Datasets:
wanglab
/
variant_effect_coding

Dataset card Data Studio Files
xet
Community
ID
stringlengths
13
17
question
stringlengths
88
1.13k
answer
stringlengths
6
156
reference_sequence
stringlengths
4.1k
4.1k
variant_sequence
stringlengths
4.1k
4.1k
Task1_train_28400
Located on Chromosome 21, this mutation impacts CBS (cystathionine beta-synthase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Homocystinuria
TGGCCTGTTCCCAGCCTCAGAGGCAGGATGAGAAACCCAAGAACCCAGGCTCCAAGTATTAAAGCGGTAATGACCTAAATGTTCAGTGCAGGGCGCTCAGAAGTAAAGGCAGGTGCCTGGGAGGAACTGACCTCCCCGGGGTGCTTCTCGGAGCGGGGCCCCCAGGACAGTCCAGACAGACCACCCTGCGGCGGAGCAGCAGAGCCTTTGGGGACAAAGGGCATTGCTGGGCAGTGACGTCTTTTTCAAGGGCAAGCAACAGGGAGAGAACGCCCTTGTCTCATCAGCGGGACCTTTCTAGGCACCCGTCCTCAGACCTGCTCTTAACCCCGAGTCCAGGAACCCTCTCCCAACTCCCACAAGCCCCAGTTGAGGGGCAGACTCAGGACCAGAGGACTTAGAGCTCCTGGCTGATCCTCAGAGGCCCCCAGTTGGAACTCCGACCCCCCACTCAGCGCAGGAAGGTTCTCCAAGACACTGGCCGGTGAGCGAGCACCCAGCCCCAGCTCCTTCGGGTCACGAGCTGCTGGTCCCTTATGTGTCAAGCACCCTTGTCTTCCCAAACACCTCCCAGGCAGCGCAGAAATACCGCGGGAGACAGCGTGCTGAGCAGACCGTGAGGAATGACAGCTTTCAGCTCAGAAGCCGGGGCCACTCCGCACTGCCCCTCTCCGGCCCGGCCACACCACTCACCCTGCATCCAGGACACTTCTCCTTCAGCTTCCTGGCAATGCCCGTGATGGTGCCGCCCGTGCCCACTGAAGCCACCAGCATGTCCAGCTTCCCTGGTGGACGGATAACATTCTTGGGTCCCTGCCTGGCCAGCCCATCACTCATAGTAATAATCATTGAAAACACACTCAGCCCAAACCACGGTGGGTAACCAAAAAGTTCAAAAGAAAAACTTCTTCTCCAGTTGGAGCAGCCCTCGTTGCTGCCCTTGGTCTGTGAAAGCCTCAGAAACAGGCAGCCTGGGGCACCCCAGCCCAGTCTTTGCTCAGTGACACTCGACCCCTAAAACCCCCATTTGGCTGGATGCAGAAAGACAGGACCCTGTCCGGGGGGTGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATTCCCAATAGGAAGCCAGGGCGCCAACCTCTTGGCAACTTATCTCTAAAGGGATCTCTTGGGAAAACCTCAGTACCAACCCCCACAGGCCTTGGCACCGAGTCCCTGGAAAAGGGCCCAAGGAGCCGGCCTCATGCTTGTAACAGAGAGTGAGCTCATCGCAGATGTCACCAGCTCTGTTCTGCAGATGAATTTGATGCCGAGTCAGGGCATGATCCCAAATGAAGTCCAAGCTGTGAGCCCAGCACCAGCCTGGGCCCTGAACAGACTCGCTGTCTGCATTATCTGCAGGAGGAGCCCCTGCAGACCTGCAGAGATTGCTGGGTAAACAAATACAGCCATGCCCTGTGTTTGCTATTACAGGTAAACCACAGGCGGAGGCCAAGAGGGCACAACGGAGGGAGGAAATTGTTCTAGAGAAATGCTCTAGAAAAGCATTTCACAGAGGGAACATTTGAGCTGGGTTCTGAAGGGTGAATAGGAGTTCACCAAGGAGAGGGCAAGAGATGTGTACACTCCCAGGCAGCCAGGGATAAATGCAATCAAGATGGACAGAGGGACGCACCATCACACTGCTGCAGGATCTCATCAGCGGTGGTGTCGTAGTGAGCCAGGGGGTTGCTGGCGTTGCGGTACTGCATAGAAAGAGAGCAGAGCCCGTGAGCTGACCCCTGACACCTCAGTCACCCCCACATCCCTGACCGAGACCCTCCTAGGGAATGCCTGTCTCCAGGCCCCAGGTGCCTCACCTGGTCTAGGATGTGAGAATTGGGGATTTCGTTCTTCAGCCGCCAGGCCACCCCCACGTGTGACTCCGGGGAGTCGAACCTGGCATTGGTGGGCGTCCTCACAATCTCAGCCCCCAGTGCCCGCAGCACGTCCACCTGCAGGAGGGAAAGCGGTGGCCTGCACCTTCCGCCTGGCCCAGGCACCCTCATCCCCTGCCCTATGACCCCGCCCCTGGCCACGCCCACCCACCTTCTCGGAGCTCATCTTCTCTGGCATCACGATGATGCAGCGATAGCCCCTCACTGCCGCAGCCAGGGCCAGCCCGATCCCTGAGGGCACACAGAGGGTGAGAGGGGCCCAGTGACCCCCCAAGCCCTGCCCCGCCCCTGCCTGGGACACAGGGGCACACCCCGATGCCGGTTCCCTTAGGGCCCAGGGAAGAGGGTTCTGTGGGATTCCAAAATTGCCCAACATGGCTGCTTCTGCCTTCAAGTGCAGGGGGAGAGAGGCTGCCAGAGGCAGAAATAAAAGGTACACGTCAAGGAGGAGGAGGCAGCGGCGCAGGACAGGAGATCTGGTTCCTCCAGGCCCAGCCGGGTACACAGGCACAGGAAGAGCAGACTCCGGGTGCTCGTCTTGTGTGCCAGGCACTGCCAGGTGCCATCGCCCCGAGAGCATCGGCACTGGCCCCGAATGCTGGTCAAAGGAAGCTAGGTTGGGACACAGGCCGGCAGCGGGTGCAAGATGCCAGGGAGCAGGCGGCCAGGCGGGCCAGCACATGCGGCTGCAGCTCAGCCATCCCCCCCGGGTCCCGGCAGGCTCGGCATGGGTAGGGGACAGCCAGCCCTGGCCACCCCCTCTGGGCCTGGCACCCACCGGTGTTCCCGGATGTCGGCTCGATAATCGTGTCCCCGGGCTTCAGCGTCCCGTCGCGCTCAGCATCCTCAATCATCCGCAGGCTGATGCGGTCCTTCACGCTCCCGCCCGCGTTGAAGAACTCACACTTGGCCACTGGGAGGCAGAGATGAATCACAGAGGGGACCCCCTGACCACCCCCCCATTGATTCCTGCTCACCCCCCCATTACCTGATACACCCCAGGGTGGGGGACGGGCTTGGGGGTCTGTGGGTTCTGAAAAATTGCCACCTCTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCTGGTGGCCTCCGGCAAGCCACGTGACCAACCTGACCCTCGGTGTGTCTGT
TGGCCTGTTCCCAGCCTCAGAGGCAGGATGAGAAACCCAAGAACCCAGGCTCCAAGTATTAAAGCGGTAATGACCTAAATGTTCAGTGCAGGGCGCTCAGAAGTAAAGGCAGGTGCCTGGGAGGAACTGACCTCCCCGGGGTGCTTCTCGGAGCGGGGCCCCCAGGACAGTCCAGACAGACCACCCTGCGGCGGAGCAGCAGAGCCTTTGGGGACAAAGGGCATTGCTGGGCAGTGACGTCTTTTTCAAGGGCAAGCAACAGGGAGAGAACGCCCTTGTCTCATCAGCGGGACCTTTCTAGGCACCCGTCCTCAGACCTGCTCTTAACCCCGAGTCCAGGAACCCTCTCCCAACTCCCACAAGCCCCAGTTGAGGGGCAGACTCAGGACCAGAGGACTTAGAGCTCCTGGCTGATCCTCAGAGGCCCCCAGTTGGAACTCCGACCCCCCACTCAGCGCAGGAAGGTTCTCCAAGACACTGGCCGGTGAGCGAGCACCCAGCCCCAGCTCCTTCGGGTCACGAGCTGCTGGTCCCTTATGTGTCAAGCACCCTTGTCTTCCCAAACACCTCCCAGGCAGCGCAGAAATACCGCGGGAGACAGCGTGCTGAGCAGACCGTGAGGAATGACAGCTTTCAGCTCAGAAGCCGGGGCCACTCCGCACTGCCCCTCTCCGGCCCGGCCACACCACTCACCCTGCATCCAGGACACTTCTCCTTCAGCTTCCTGGCAATGCCCGTGATGGTGCCGCCCGTGCCCACTGAAGCCACCAGCATGTCCAGCTTCCCTGGTGGACGGATAACATTCTTGGGTCCCTGCCTGGCCAGCCCATCACTCATAGTAATAATCATTGAAAACACACTCAGCCCAAACCACGGTGGGTAACCAAAAAGTTCAAAAGAAAAACTTCTTCTCCAGTTGGAGCAGCCCTCGTTGCTGCCCTTGGTCTGTGAAAGCCTCAGAAACAGGCAGCCTGGGGCACCCCAGCCCAGTCTTTGCTCAGTGACACTCGACCCCTAAAACCCCCATTTGGCTGGATGCAGAAAGACAGGACCCTGTCCGGGGGGTGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATTCCCAATAGGAAGCCAGGGCGCCAACCTCTTGGCAACTTATCTCTAAAGGGATCTCTTGGGAAAACCTCAGTACCAACCCCCACAGGCCTTGGCACCGAGTCCCTGGAAAAGGGCCCAAGGAGCCGGCCTCATGCTTGTAACAGAGAGTGAGCTCATCGCAGATGTCACCAGCTCTGTTCTGCAGATGAATTTGATGCCGAGTCAGGGCATGATCCCAAATGAAGTCCAAGCTGTGAGCCCAGCACCAGCCTGGGCCCTGAACAGACTCGCTGTCTGCATTATCTGCAGGAGGAGCCCCTGCAGACCTGCAGAGATTGCTGGGTAAACAAATACAGCCATGCCCTGTGTTTGCTATTACAGGTAAACCACAGGCGGAGGCCAAGAGGGCACAACGGAGGGAGGAAATTGTTCTAGAGAAATGCTCTAGAAAAGCATTTCACAGAGGGAACATTTGAGCTGGGTTCTGAAGGGTGAATAGGAGTTCACCAAGGAGAGGGCAAGAGATGTGTACACTCCCAGGCAGCCAGGGATAAATGCAATCAAGATGGACAGAGGGACGCACCATCACACTGCTGCAGGATCTCATCAGCGGTGGTGTCGTAGTGAGCCAGGGGCTTGCTGGCGTTGCGGTACTGCATAGAAAGAGAGCAGAGCCCGTGAGCTGACCCCTGACACCTCAGTCACCCCCACATCCCTGACCGAGACCCTCCTAGGGAATGCCTGTCTCCAGGCCCCAGGTGCCTCACCTGGTCTAGGATGTGAGAATTGGGGATTTCGTTCTTCAGCCGCCAGGCCACCCCCACGTGTGACTCCGGGGAGTCGAACCTGGCATTGGTGGGCGTCCTCACAATCTCAGCCCCCAGTGCCCGCAGCACGTCCACCTGCAGGAGGGAAAGCGGTGGCCTGCACCTTCCGCCTGGCCCAGGCACCCTCATCCCCTGCCCTATGACCCCGCCCCTGGCCACGCCCACCCACCTTCTCGGAGCTCATCTTCTCTGGCATCACGATGATGCAGCGATAGCCCCTCACTGCCGCAGCCAGGGCCAGCCCGATCCCTGAGGGCACACAGAGGGTGAGAGGGGCCCAGTGACCCCCCAAGCCCTGCCCCGCCCCTGCCTGGGACACAGGGGCACACCCCGATGCCGGTTCCCTTAGGGCCCAGGGAAGAGGGTTCTGTGGGATTCCAAAATTGCCCAACATGGCTGCTTCTGCCTTCAAGTGCAGGGGGAGAGAGGCTGCCAGAGGCAGAAATAAAAGGTACACGTCAAGGAGGAGGAGGCAGCGGCGCAGGACAGGAGATCTGGTTCCTCCAGGCCCAGCCGGGTACACAGGCACAGGAAGAGCAGACTCCGGGTGCTCGTCTTGTGTGCCAGGCACTGCCAGGTGCCATCGCCCCGAGAGCATCGGCACTGGCCCCGAATGCTGGTCAAAGGAAGCTAGGTTGGGACACAGGCCGGCAGCGGGTGCAAGATGCCAGGGAGCAGGCGGCCAGGCGGGCCAGCACATGCGGCTGCAGCTCAGCCATCCCCCCCGGGTCCCGGCAGGCTCGGCATGGGTAGGGGACAGCCAGCCCTGGCCACCCCCTCTGGGCCTGGCACCCACCGGTGTTCCCGGATGTCGGCTCGATAATCGTGTCCCCGGGCTTCAGCGTCCCGTCGCGCTCAGCATCCTCAATCATCCGCAGGCTGATGCGGTCCTTCACGCTCCCGCCCGCGTTGAAGAACTCACACTTGGCCACTGGGAGGCAGAGATGAATCACAGAGGGGACCCCCTGACCACCCCCCCATTGATTCCTGCTCACCCCCCCATTACCTGATACACCCCAGGGTGGGGGACGGGCTTGGGGGTCTGTGGGTTCTGAAAAATTGCCACCTCTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCTGGTGGCCTCCGGCAAGCCACGTGACCAACCTGACCCTCGGTGTGTCTGT
Task1_train_28401
Mutation context: Chromosome 21, Gene CBS (cystathionine beta-synthase). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Classic homocystinuria
TGGCCTGTTCCCAGCCTCAGAGGCAGGATGAGAAACCCAAGAACCCAGGCTCCAAGTATTAAAGCGGTAATGACCTAAATGTTCAGTGCAGGGCGCTCAGAAGTAAAGGCAGGTGCCTGGGAGGAACTGACCTCCCCGGGGTGCTTCTCGGAGCGGGGCCCCCAGGACAGTCCAGACAGACCACCCTGCGGCGGAGCAGCAGAGCCTTTGGGGACAAAGGGCATTGCTGGGCAGTGACGTCTTTTTCAAGGGCAAGCAACAGGGAGAGAACGCCCTTGTCTCATCAGCGGGACCTTTCTAGGCACCCGTCCTCAGACCTGCTCTTAACCCCGAGTCCAGGAACCCTCTCCCAACTCCCACAAGCCCCAGTTGAGGGGCAGACTCAGGACCAGAGGACTTAGAGCTCCTGGCTGATCCTCAGAGGCCCCCAGTTGGAACTCCGACCCCCCACTCAGCGCAGGAAGGTTCTCCAAGACACTGGCCGGTGAGCGAGCACCCAGCCCCAGCTCCTTCGGGTCACGAGCTGCTGGTCCCTTATGTGTCAAGCACCCTTGTCTTCCCAAACACCTCCCAGGCAGCGCAGAAATACCGCGGGAGACAGCGTGCTGAGCAGACCGTGAGGAATGACAGCTTTCAGCTCAGAAGCCGGGGCCACTCCGCACTGCCCCTCTCCGGCCCGGCCACACCACTCACCCTGCATCCAGGACACTTCTCCTTCAGCTTCCTGGCAATGCCCGTGATGGTGCCGCCCGTGCCCACTGAAGCCACCAGCATGTCCAGCTTCCCTGGTGGACGGATAACATTCTTGGGTCCCTGCCTGGCCAGCCCATCACTCATAGTAATAATCATTGAAAACACACTCAGCCCAAACCACGGTGGGTAACCAAAAAGTTCAAAAGAAAAACTTCTTCTCCAGTTGGAGCAGCCCTCGTTGCTGCCCTTGGTCTGTGAAAGCCTCAGAAACAGGCAGCCTGGGGCACCCCAGCCCAGTCTTTGCTCAGTGACACTCGACCCCTAAAACCCCCATTTGGCTGGATGCAGAAAGACAGGACCCTGTCCGGGGGGTGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATTCCCAATAGGAAGCCAGGGCGCCAACCTCTTGGCAACTTATCTCTAAAGGGATCTCTTGGGAAAACCTCAGTACCAACCCCCACAGGCCTTGGCACCGAGTCCCTGGAAAAGGGCCCAAGGAGCCGGCCTCATGCTTGTAACAGAGAGTGAGCTCATCGCAGATGTCACCAGCTCTGTTCTGCAGATGAATTTGATGCCGAGTCAGGGCATGATCCCAAATGAAGTCCAAGCTGTGAGCCCAGCACCAGCCTGGGCCCTGAACAGACTCGCTGTCTGCATTATCTGCAGGAGGAGCCCCTGCAGACCTGCAGAGATTGCTGGGTAAACAAATACAGCCATGCCCTGTGTTTGCTATTACAGGTAAACCACAGGCGGAGGCCAAGAGGGCACAACGGAGGGAGGAAATTGTTCTAGAGAAATGCTCTAGAAAAGCATTTCACAGAGGGAACATTTGAGCTGGGTTCTGAAGGGTGAATAGGAGTTCACCAAGGAGAGGGCAAGAGATGTGTACACTCCCAGGCAGCCAGGGATAAATGCAATCAAGATGGACAGAGGGACGCACCATCACACTGCTGCAGGATCTCATCAGCGGTGGTGTCGTAGTGAGCCAGGGGGTTGCTGGCGTTGCGGTACTGCATAGAAAGAGAGCAGAGCCCGTGAGCTGACCCCTGACACCTCAGTCACCCCCACATCCCTGACCGAGACCCTCCTAGGGAATGCCTGTCTCCAGGCCCCAGGTGCCTCACCTGGTCTAGGATGTGAGAATTGGGGATTTCGTTCTTCAGCCGCCAGGCCACCCCCACGTGTGACTCCGGGGAGTCGAACCTGGCATTGGTGGGCGTCCTCACAATCTCAGCCCCCAGTGCCCGCAGCACGTCCACCTGCAGGAGGGAAAGCGGTGGCCTGCACCTTCCGCCTGGCCCAGGCACCCTCATCCCCTGCCCTATGACCCCGCCCCTGGCCACGCCCACCCACCTTCTCGGAGCTCATCTTCTCTGGCATCACGATGATGCAGCGATAGCCCCTCACTGCCGCAGCCAGGGCCAGCCCGATCCCTGAGGGCACACAGAGGGTGAGAGGGGCCCAGTGACCCCCCAAGCCCTGCCCCGCCCCTGCCTGGGACACAGGGGCACACCCCGATGCCGGTTCCCTTAGGGCCCAGGGAAGAGGGTTCTGTGGGATTCCAAAATTGCCCAACATGGCTGCTTCTGCCTTCAAGTGCAGGGGGAGAGAGGCTGCCAGAGGCAGAAATAAAAGGTACACGTCAAGGAGGAGGAGGCAGCGGCGCAGGACAGGAGATCTGGTTCCTCCAGGCCCAGCCGGGTACACAGGCACAGGAAGAGCAGACTCCGGGTGCTCGTCTTGTGTGCCAGGCACTGCCAGGTGCCATCGCCCCGAGAGCATCGGCACTGGCCCCGAATGCTGGTCAAAGGAAGCTAGGTTGGGACACAGGCCGGCAGCGGGTGCAAGATGCCAGGGAGCAGGCGGCCAGGCGGGCCAGCACATGCGGCTGCAGCTCAGCCATCCCCCCCGGGTCCCGGCAGGCTCGGCATGGGTAGGGGACAGCCAGCCCTGGCCACCCCCTCTGGGCCTGGCACCCACCGGTGTTCCCGGATGTCGGCTCGATAATCGTGTCCCCGGGCTTCAGCGTCCCGTCGCGCTCAGCATCCTCAATCATCCGCAGGCTGATGCGGTCCTTCACGCTCCCGCCCGCGTTGAAGAACTCACACTTGGCCACTGGGAGGCAGAGATGAATCACAGAGGGGACCCCCTGACCACCCCCCCATTGATTCCTGCTCACCCCCCCATTACCTGATACACCCCAGGGTGGGGGACGGGCTTGGGGGTCTGTGGGTTCTGAAAAATTGCCACCTCTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCTGGTGGCCTCCGGCAAGCCACGTGACCAACCTGACCCTCGGTGTGTCTGT
TGGCCTGTTCCCAGCCTCAGAGGCAGGATGAGAAACCCAAGAACCCAGGCTCCAAGTATTAAAGCGGTAATGACCTAAATGTTCAGTGCAGGGCGCTCAGAAGTAAAGGCAGGTGCCTGGGAGGAACTGACCTCCCCGGGGTGCTTCTCGGAGCGGGGCCCCCAGGACAGTCCAGACAGACCACCCTGCGGCGGAGCAGCAGAGCCTTTGGGGACAAAGGGCATTGCTGGGCAGTGACGTCTTTTTCAAGGGCAAGCAACAGGGAGAGAACGCCCTTGTCTCATCAGCGGGACCTTTCTAGGCACCCGTCCTCAGACCTGCTCTTAACCCCGAGTCCAGGAACCCTCTCCCAACTCCCACAAGCCCCAGTTGAGGGGCAGACTCAGGACCAGAGGACTTAGAGCTCCTGGCTGATCCTCAGAGGCCCCCAGTTGGAACTCCGACCCCCCACTCAGCGCAGGAAGGTTCTCCAAGACACTGGCCGGTGAGCGAGCACCCAGCCCCAGCTCCTTCGGGTCACGAGCTGCTGGTCCCTTATGTGTCAAGCACCCTTGTCTTCCCAAACACCTCCCAGGCAGCGCAGAAATACCGCGGGAGACAGCGTGCTGAGCAGACCGTGAGGAATGACAGCTTTCAGCTCAGAAGCCGGGGCCACTCCGCACTGCCCCTCTCCGGCCCGGCCACACCACTCACCCTGCATCCAGGACACTTCTCCTTCAGCTTCCTGGCAATGCCCGTGATGGTGCCGCCCGTGCCCACTGAAGCCACCAGCATGTCCAGCTTCCCTGGTGGACGGATAACATTCTTGGGTCCCTGCCTGGCCAGCCCATCACTCATAGTAATAATCATTGAAAACACACTCAGCCCAAACCACGGTGGGTAACCAAAAAGTTCAAAAGAAAAACTTCTTCTCCAGTTGGAGCAGCCCTCGTTGCTGCCCTTGGTCTGTGAAAGCCTCAGAAACAGGCAGCCTGGGGCACCCCAGCCCAGTCTTTGCTCAGTGACACTCGACCCCTAAAACCCCCATTTGGCTGGATGCAGAAAGACAGGACCCTGTCCGGGGGGTGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATTCCCAATAGGAAGCCAGGGCGCCAACCTCTTGGCAACTTATCTCTAAAGGGATCTCTTGGGAAAACCTCAGTACCAACCCCCACAGGCCTTGGCACCGAGTCCCTGGAAAAGGGCCCAAGGAGCCGGCCTCATGCTTGTAACAGAGAGTGAGCTCATCGCAGATGTCACCAGCTCTGTTCTGCAGATGAATTTGATGCCGAGTCAGGGCATGATCCCAAATGAAGTCCAAGCTGTGAGCCCAGCACCAGCCTGGGCCCTGAACAGACTCGCTGTCTGCATTATCTGCAGGAGGAGCCCCTGCAGACCTGCAGAGATTGCTGGGTAAACAAATACAGCCATGCCCTGTGTTTGCTATTACAGGTAAACCACAGGCGGAGGCCAAGAGGGCACAACGGAGGGAGGAAATTGTTCTAGAGAAATGCTCTAGAAAAGCATTTCACAGAGGGAACATTTGAGCTGGGTTCTGAAGGGTGAATAGGAGTTCACCAAGGAGAGGGCAAGAGATGTGTACACTCCCAGGCAGCCAGGGATAAATGCAATCAAGATGGACAGAGGGACGCACCATCACACTGCTGCAGGATCTCATCAGCGGTGGTGTCGTAGTGAGCCAGGGGTTTGCTGGCGTTGCGGTACTGCATAGAAAGAGAGCAGAGCCCGTGAGCTGACCCCTGACACCTCAGTCACCCCCACATCCCTGACCGAGACCCTCCTAGGGAATGCCTGTCTCCAGGCCCCAGGTGCCTCACCTGGTCTAGGATGTGAGAATTGGGGATTTCGTTCTTCAGCCGCCAGGCCACCCCCACGTGTGACTCCGGGGAGTCGAACCTGGCATTGGTGGGCGTCCTCACAATCTCAGCCCCCAGTGCCCGCAGCACGTCCACCTGCAGGAGGGAAAGCGGTGGCCTGCACCTTCCGCCTGGCCCAGGCACCCTCATCCCCTGCCCTATGACCCCGCCCCTGGCCACGCCCACCCACCTTCTCGGAGCTCATCTTCTCTGGCATCACGATGATGCAGCGATAGCCCCTCACTGCCGCAGCCAGGGCCAGCCCGATCCCTGAGGGCACACAGAGGGTGAGAGGGGCCCAGTGACCCCCCAAGCCCTGCCCCGCCCCTGCCTGGGACACAGGGGCACACCCCGATGCCGGTTCCCTTAGGGCCCAGGGAAGAGGGTTCTGTGGGATTCCAAAATTGCCCAACATGGCTGCTTCTGCCTTCAAGTGCAGGGGGAGAGAGGCTGCCAGAGGCAGAAATAAAAGGTACACGTCAAGGAGGAGGAGGCAGCGGCGCAGGACAGGAGATCTGGTTCCTCCAGGCCCAGCCGGGTACACAGGCACAGGAAGAGCAGACTCCGGGTGCTCGTCTTGTGTGCCAGGCACTGCCAGGTGCCATCGCCCCGAGAGCATCGGCACTGGCCCCGAATGCTGGTCAAAGGAAGCTAGGTTGGGACACAGGCCGGCAGCGGGTGCAAGATGCCAGGGAGCAGGCGGCCAGGCGGGCCAGCACATGCGGCTGCAGCTCAGCCATCCCCCCCGGGTCCCGGCAGGCTCGGCATGGGTAGGGGACAGCCAGCCCTGGCCACCCCCTCTGGGCCTGGCACCCACCGGTGTTCCCGGATGTCGGCTCGATAATCGTGTCCCCGGGCTTCAGCGTCCCGTCGCGCTCAGCATCCTCAATCATCCGCAGGCTGATGCGGTCCTTCACGCTCCCGCCCGCGTTGAAGAACTCACACTTGGCCACTGGGAGGCAGAGATGAATCACAGAGGGGACCCCCTGACCACCCCCCCATTGATTCCTGCTCACCCCCCCATTACCTGATACACCCCAGGGTGGGGGACGGGCTTGGGGGTCTGTGGGTTCTGAAAAATTGCCACCTCTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCTGGTGGCCTCCGGCAAGCCACGTGACCAACCTGACCCTCGGTGTGTCTGT
Task1_train_28402
Here is a genetic alteration in CBS (cystathionine beta-synthase) on Chromosome 21. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
TGGCCTGTTCCCAGCCTCAGAGGCAGGATGAGAAACCCAAGAACCCAGGCTCCAAGTATTAAAGCGGTAATGACCTAAATGTTCAGTGCAGGGCGCTCAGAAGTAAAGGCAGGTGCCTGGGAGGAACTGACCTCCCCGGGGTGCTTCTCGGAGCGGGGCCCCCAGGACAGTCCAGACAGACCACCCTGCGGCGGAGCAGCAGAGCCTTTGGGGACAAAGGGCATTGCTGGGCAGTGACGTCTTTTTCAAGGGCAAGCAACAGGGAGAGAACGCCCTTGTCTCATCAGCGGGACCTTTCTAGGCACCCGTCCTCAGACCTGCTCTTAACCCCGAGTCCAGGAACCCTCTCCCAACTCCCACAAGCCCCAGTTGAGGGGCAGACTCAGGACCAGAGGACTTAGAGCTCCTGGCTGATCCTCAGAGGCCCCCAGTTGGAACTCCGACCCCCCACTCAGCGCAGGAAGGTTCTCCAAGACACTGGCCGGTGAGCGAGCACCCAGCCCCAGCTCCTTCGGGTCACGAGCTGCTGGTCCCTTATGTGTCAAGCACCCTTGTCTTCCCAAACACCTCCCAGGCAGCGCAGAAATACCGCGGGAGACAGCGTGCTGAGCAGACCGTGAGGAATGACAGCTTTCAGCTCAGAAGCCGGGGCCACTCCGCACTGCCCCTCTCCGGCCCGGCCACACCACTCACCCTGCATCCAGGACACTTCTCCTTCAGCTTCCTGGCAATGCCCGTGATGGTGCCGCCCGTGCCCACTGAAGCCACCAGCATGTCCAGCTTCCCTGGTGGACGGATAACATTCTTGGGTCCCTGCCTGGCCAGCCCATCACTCATAGTAATAATCATTGAAAACACACTCAGCCCAAACCACGGTGGGTAACCAAAAAGTTCAAAAGAAAAACTTCTTCTCCAGTTGGAGCAGCCCTCGTTGCTGCCCTTGGTCTGTGAAAGCCTCAGAAACAGGCAGCCTGGGGCACCCCAGCCCAGTCTTTGCTCAGTGACACTCGACCCCTAAAACCCCCATTTGGCTGGATGCAGAAAGACAGGACCCTGTCCGGGGGGTGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATTCCCAATAGGAAGCCAGGGCGCCAACCTCTTGGCAACTTATCTCTAAAGGGATCTCTTGGGAAAACCTCAGTACCAACCCCCACAGGCCTTGGCACCGAGTCCCTGGAAAAGGGCCCAAGGAGCCGGCCTCATGCTTGTAACAGAGAGTGAGCTCATCGCAGATGTCACCAGCTCTGTTCTGCAGATGAATTTGATGCCGAGTCAGGGCATGATCCCAAATGAAGTCCAAGCTGTGAGCCCAGCACCAGCCTGGGCCCTGAACAGACTCGCTGTCTGCATTATCTGCAGGAGGAGCCCCTGCAGACCTGCAGAGATTGCTGGGTAAACAAATACAGCCATGCCCTGTGTTTGCTATTACAGGTAAACCACAGGCGGAGGCCAAGAGGGCACAACGGAGGGAGGAAATTGTTCTAGAGAAATGCTCTAGAAAAGCATTTCACAGAGGGAACATTTGAGCTGGGTTCTGAAGGGTGAATAGGAGTTCACCAAGGAGAGGGCAAGAGATGTGTACACTCCCAGGCAGCCAGGGATAAATGCAATCAAGATGGACAGAGGGACGCACCATCACACTGCTGCAGGATCTCATCAGCGGTGGTGTCGTAGTGAGCCAGGGGGTTGCTGGCGTTGCGGTACTGCATAGAAAGAGAGCAGAGCCCGTGAGCTGACCCCTGACACCTCAGTCACCCCCACATCCCTGACCGAGACCCTCCTAGGGAATGCCTGTCTCCAGGCCCCAGGTGCCTCACCTGGTCTAGGATGTGAGAATTGGGGATTTCGTTCTTCAGCCGCCAGGCCACCCCCACGTGTGACTCCGGGGAGTCGAACCTGGCATTGGTGGGCGTCCTCACAATCTCAGCCCCCAGTGCCCGCAGCACGTCCACCTGCAGGAGGGAAAGCGGTGGCCTGCACCTTCCGCCTGGCCCAGGCACCCTCATCCCCTGCCCTATGACCCCGCCCCTGGCCACGCCCACCCACCTTCTCGGAGCTCATCTTCTCTGGCATCACGATGATGCAGCGATAGCCCCTCACTGCCGCAGCCAGGGCCAGCCCGATCCCTGAGGGCACACAGAGGGTGAGAGGGGCCCAGTGACCCCCCAAGCCCTGCCCCGCCCCTGCCTGGGACACAGGGGCACACCCCGATGCCGGTTCCCTTAGGGCCCAGGGAAGAGGGTTCTGTGGGATTCCAAAATTGCCCAACATGGCTGCTTCTGCCTTCAAGTGCAGGGGGAGAGAGGCTGCCAGAGGCAGAAATAAAAGGTACACGTCAAGGAGGAGGAGGCAGCGGCGCAGGACAGGAGATCTGGTTCCTCCAGGCCCAGCCGGGTACACAGGCACAGGAAGAGCAGACTCCGGGTGCTCGTCTTGTGTGCCAGGCACTGCCAGGTGCCATCGCCCCGAGAGCATCGGCACTGGCCCCGAATGCTGGTCAAAGGAAGCTAGGTTGGGACACAGGCCGGCAGCGGGTGCAAGATGCCAGGGAGCAGGCGGCCAGGCGGGCCAGCACATGCGGCTGCAGCTCAGCCATCCCCCCCGGGTCCCGGCAGGCTCGGCATGGGTAGGGGACAGCCAGCCCTGGCCACCCCCTCTGGGCCTGGCACCCACCGGTGTTCCCGGATGTCGGCTCGATAATCGTGTCCCCGGGCTTCAGCGTCCCGTCGCGCTCAGCATCCTCAATCATCCGCAGGCTGATGCGGTCCTTCACGCTCCCGCCCGCGTTGAAGAACTCACACTTGGCCACTGGGAGGCAGAGATGAATCACAGAGGGGACCCCCTGACCACCCCCCCATTGATTCCTGCTCACCCCCCCATTACCTGATACACCCCAGGGTGGGGGACGGGCTTGGGGGTCTGTGGGTTCTGAAAAATTGCCACCTCTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCTGGTGGCCTCCGGCAAGCCACGTGACCAACCTGACCCTCGGTGTGTCTGT
TGGCCTGTTCCCAGCCTCAGAGGCAGGATGAGAAACCCAAGAACCCAGGCTCCAAGTATTAAAGCGGTAATGACCTAAATGTTCAGTGCAGGGCGCTCAGAAGTAAAGGCAGGTGCCTGGGAGGAACTGACCTCCCCGGGGTGCTTCTCGGAGCGGGGCCCCCAGGACAGTCCAGACAGACCACCCTGCGGCGGAGCAGCAGAGCCTTTGGGGACAAAGGGCATTGCTGGGCAGTGACGTCTTTTTCAAGGGCAAGCAACAGGGAGAGAACGCCCTTGTCTCATCAGCGGGACCTTTCTAGGCACCCGTCCTCAGACCTGCTCTTAACCCCGAGTCCAGGAACCCTCTCCCAACTCCCACAAGCCCCAGTTGAGGGGCAGACTCAGGACCAGAGGACTTAGAGCTCCTGGCTGATCCTCAGAGGCCCCCAGTTGGAACTCCGACCCCCCACTCAGCGCAGGAAGGTTCTCCAAGACACTGGCCGGTGAGCGAGCACCCAGCCCCAGCTCCTTCGGGTCACGAGCTGCTGGTCCCTTATGTGTCAAGCACCCTTGTCTTCCCAAACACCTCCCAGGCAGCGCAGAAATACCGCGGGAGACAGCGTGCTGAGCAGACCGTGAGGAATGACAGCTTTCAGCTCAGAAGCCGGGGCCACTCCGCACTGCCCCTCTCCGGCCCGGCCACACCACTCACCCTGCATCCAGGACACTTCTCCTTCAGCTTCCTGGCAATGCCCGTGATGGTGCCGCCCGTGCCCACTGAAGCCACCAGCATGTCCAGCTTCCCTGGTGGACGGATAACATTCTTGGGTCCCTGCCTGGCCAGCCCATCACTCATAGTAATAATCATTGAAAACACACTCAGCCCAAACCACGGTGGGTAACCAAAAAGTTCAAAAGAAAAACTTCTTCTCCAGTTGGAGCAGCCCTCGTTGCTGCCCTTGGTCTGTGAAAGCCTCAGAAACAGGCAGCCTGGGGCACCCCAGCCCAGTCTTTGCTCAGTGACACTCGACCCCTAAAACCCCCATTTGGCTGGATGCAGAAAGACAGGACCCTGTCCGGGGGGTGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATTCCCAATAGGAAGCCAGGGCGCCAACCTCTTGGCAACTTATCTCTAAAGGGATCTCTTGGGAAAACCTCAGTACCAACCCCCACAGGCCTTGGCACCGAGTCCCTGGAAAAGGGCCCAAGGAGCCGGCCTCATGCTTGTAACAGAGAGTGAGCTCATCGCAGATGTCACCAGCTCTGTTCTGCAGATGAATTTGATGCCGAGTCAGGGCATGATCCCAAATGAAGTCCAAGCTGTGAGCCCAGCACCAGCCTGGGCCCTGAACAGACTCGCTGTCTGCATTATCTGCAGGAGGAGCCCCTGCAGACCTGCAGAGATTGCTGGGTAAACAAATACAGCCATGCCCTGTGTTTGCTATTACAGGTAAACCACAGGCGGAGGCCAAGAGGGCACAACGGAGGGAGGAAATTGTTCTAGAGAAATGCTCTAGAAAAGCATTTCACAGAGGGAACATTTGAGCTGGGTTCTGAAGGGTGAATAGGAGTTCACCAAGGAGAGGGCAAGAGATGTGTACACTCCCAGGCAGCCAGGGATAAATGCAATCAAGATGGACAGAGGGACGCACCATCACACTGCTGCAGGATCTCATCAGCGGTGGTGTCGTAGTGAGCCAGGGGTTTGCTGGCGTTGCGGTACTGCATAGAAAGAGAGCAGAGCCCGTGAGCTGACCCCTGACACCTCAGTCACCCCCACATCCCTGACCGAGACCCTCCTAGGGAATGCCTGTCTCCAGGCCCCAGGTGCCTCACCTGGTCTAGGATGTGAGAATTGGGGATTTCGTTCTTCAGCCGCCAGGCCACCCCCACGTGTGACTCCGGGGAGTCGAACCTGGCATTGGTGGGCGTCCTCACAATCTCAGCCCCCAGTGCCCGCAGCACGTCCACCTGCAGGAGGGAAAGCGGTGGCCTGCACCTTCCGCCTGGCCCAGGCACCCTCATCCCCTGCCCTATGACCCCGCCCCTGGCCACGCCCACCCACCTTCTCGGAGCTCATCTTCTCTGGCATCACGATGATGCAGCGATAGCCCCTCACTGCCGCAGCCAGGGCCAGCCCGATCCCTGAGGGCACACAGAGGGTGAGAGGGGCCCAGTGACCCCCCAAGCCCTGCCCCGCCCCTGCCTGGGACACAGGGGCACACCCCGATGCCGGTTCCCTTAGGGCCCAGGGAAGAGGGTTCTGTGGGATTCCAAAATTGCCCAACATGGCTGCTTCTGCCTTCAAGTGCAGGGGGAGAGAGGCTGCCAGAGGCAGAAATAAAAGGTACACGTCAAGGAGGAGGAGGCAGCGGCGCAGGACAGGAGATCTGGTTCCTCCAGGCCCAGCCGGGTACACAGGCACAGGAAGAGCAGACTCCGGGTGCTCGTCTTGTGTGCCAGGCACTGCCAGGTGCCATCGCCCCGAGAGCATCGGCACTGGCCCCGAATGCTGGTCAAAGGAAGCTAGGTTGGGACACAGGCCGGCAGCGGGTGCAAGATGCCAGGGAGCAGGCGGCCAGGCGGGCCAGCACATGCGGCTGCAGCTCAGCCATCCCCCCCGGGTCCCGGCAGGCTCGGCATGGGTAGGGGACAGCCAGCCCTGGCCACCCCCTCTGGGCCTGGCACCCACCGGTGTTCCCGGATGTCGGCTCGATAATCGTGTCCCCGGGCTTCAGCGTCCCGTCGCGCTCAGCATCCTCAATCATCCGCAGGCTGATGCGGTCCTTCACGCTCCCGCCCGCGTTGAAGAACTCACACTTGGCCACTGGGAGGCAGAGATGAATCACAGAGGGGACCCCCTGACCACCCCCCCATTGATTCCTGCTCACCCCCCCATTACCTGATACACCCCAGGGTGGGGGACGGGCTTGGGGGTCTGTGGGTTCTGAAAAATTGCCACCTCTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCTGGTGGCCTCCGGCAAGCCACGTGACCAACCTGACCCTCGGTGTGTCTGT
Task1_train_28403
This variant affects gene CBS (cystathionine beta-synthase) located on Chromosome 21. Evaluate its biological effect and specify any disease association.
Pathogenic; Homocystinuria
TGGCCTGTTCCCAGCCTCAGAGGCAGGATGAGAAACCCAAGAACCCAGGCTCCAAGTATTAAAGCGGTAATGACCTAAATGTTCAGTGCAGGGCGCTCAGAAGTAAAGGCAGGTGCCTGGGAGGAACTGACCTCCCCGGGGTGCTTCTCGGAGCGGGGCCCCCAGGACAGTCCAGACAGACCACCCTGCGGCGGAGCAGCAGAGCCTTTGGGGACAAAGGGCATTGCTGGGCAGTGACGTCTTTTTCAAGGGCAAGCAACAGGGAGAGAACGCCCTTGTCTCATCAGCGGGACCTTTCTAGGCACCCGTCCTCAGACCTGCTCTTAACCCCGAGTCCAGGAACCCTCTCCCAACTCCCACAAGCCCCAGTTGAGGGGCAGACTCAGGACCAGAGGACTTAGAGCTCCTGGCTGATCCTCAGAGGCCCCCAGTTGGAACTCCGACCCCCCACTCAGCGCAGGAAGGTTCTCCAAGACACTGGCCGGTGAGCGAGCACCCAGCCCCAGCTCCTTCGGGTCACGAGCTGCTGGTCCCTTATGTGTCAAGCACCCTTGTCTTCCCAAACACCTCCCAGGCAGCGCAGAAATACCGCGGGAGACAGCGTGCTGAGCAGACCGTGAGGAATGACAGCTTTCAGCTCAGAAGCCGGGGCCACTCCGCACTGCCCCTCTCCGGCCCGGCCACACCACTCACCCTGCATCCAGGACACTTCTCCTTCAGCTTCCTGGCAATGCCCGTGATGGTGCCGCCCGTGCCCACTGAAGCCACCAGCATGTCCAGCTTCCCTGGTGGACGGATAACATTCTTGGGTCCCTGCCTGGCCAGCCCATCACTCATAGTAATAATCATTGAAAACACACTCAGCCCAAACCACGGTGGGTAACCAAAAAGTTCAAAAGAAAAACTTCTTCTCCAGTTGGAGCAGCCCTCGTTGCTGCCCTTGGTCTGTGAAAGCCTCAGAAACAGGCAGCCTGGGGCACCCCAGCCCAGTCTTTGCTCAGTGACACTCGACCCCTAAAACCCCCATTTGGCTGGATGCAGAAAGACAGGACCCTGTCCGGGGGGTGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATTCCCAATAGGAAGCCAGGGCGCCAACCTCTTGGCAACTTATCTCTAAAGGGATCTCTTGGGAAAACCTCAGTACCAACCCCCACAGGCCTTGGCACCGAGTCCCTGGAAAAGGGCCCAAGGAGCCGGCCTCATGCTTGTAACAGAGAGTGAGCTCATCGCAGATGTCACCAGCTCTGTTCTGCAGATGAATTTGATGCCGAGTCAGGGCATGATCCCAAATGAAGTCCAAGCTGTGAGCCCAGCACCAGCCTGGGCCCTGAACAGACTCGCTGTCTGCATTATCTGCAGGAGGAGCCCCTGCAGACCTGCAGAGATTGCTGGGTAAACAAATACAGCCATGCCCTGTGTTTGCTATTACAGGTAAACCACAGGCGGAGGCCAAGAGGGCACAACGGAGGGAGGAAATTGTTCTAGAGAAATGCTCTAGAAAAGCATTTCACAGAGGGAACATTTGAGCTGGGTTCTGAAGGGTGAATAGGAGTTCACCAAGGAGAGGGCAAGAGATGTGTACACTCCCAGGCAGCCAGGGATAAATGCAATCAAGATGGACAGAGGGACGCACCATCACACTGCTGCAGGATCTCATCAGCGGTGGTGTCGTAGTGAGCCAGGGGGTTGCTGGCGTTGCGGTACTGCATAGAAAGAGAGCAGAGCCCGTGAGCTGACCCCTGACACCTCAGTCACCCCCACATCCCTGACCGAGACCCTCCTAGGGAATGCCTGTCTCCAGGCCCCAGGTGCCTCACCTGGTCTAGGATGTGAGAATTGGGGATTTCGTTCTTCAGCCGCCAGGCCACCCCCACGTGTGACTCCGGGGAGTCGAACCTGGCATTGGTGGGCGTCCTCACAATCTCAGCCCCCAGTGCCCGCAGCACGTCCACCTGCAGGAGGGAAAGCGGTGGCCTGCACCTTCCGCCTGGCCCAGGCACCCTCATCCCCTGCCCTATGACCCCGCCCCTGGCCACGCCCACCCACCTTCTCGGAGCTCATCTTCTCTGGCATCACGATGATGCAGCGATAGCCCCTCACTGCCGCAGCCAGGGCCAGCCCGATCCCTGAGGGCACACAGAGGGTGAGAGGGGCCCAGTGACCCCCCAAGCCCTGCCCCGCCCCTGCCTGGGACACAGGGGCACACCCCGATGCCGGTTCCCTTAGGGCCCAGGGAAGAGGGTTCTGTGGGATTCCAAAATTGCCCAACATGGCTGCTTCTGCCTTCAAGTGCAGGGGGAGAGAGGCTGCCAGAGGCAGAAATAAAAGGTACACGTCAAGGAGGAGGAGGCAGCGGCGCAGGACAGGAGATCTGGTTCCTCCAGGCCCAGCCGGGTACACAGGCACAGGAAGAGCAGACTCCGGGTGCTCGTCTTGTGTGCCAGGCACTGCCAGGTGCCATCGCCCCGAGAGCATCGGCACTGGCCCCGAATGCTGGTCAAAGGAAGCTAGGTTGGGACACAGGCCGGCAGCGGGTGCAAGATGCCAGGGAGCAGGCGGCCAGGCGGGCCAGCACATGCGGCTGCAGCTCAGCCATCCCCCCCGGGTCCCGGCAGGCTCGGCATGGGTAGGGGACAGCCAGCCCTGGCCACCCCCTCTGGGCCTGGCACCCACCGGTGTTCCCGGATGTCGGCTCGATAATCGTGTCCCCGGGCTTCAGCGTCCCGTCGCGCTCAGCATCCTCAATCATCCGCAGGCTGATGCGGTCCTTCACGCTCCCGCCCGCGTTGAAGAACTCACACTTGGCCACTGGGAGGCAGAGATGAATCACAGAGGGGACCCCCTGACCACCCCCCCATTGATTCCTGCTCACCCCCCCATTACCTGATACACCCCAGGGTGGGGGACGGGCTTGGGGGTCTGTGGGTTCTGAAAAATTGCCACCTCTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCTGGTGGCCTCCGGCAAGCCACGTGACCAACCTGACCCTCGGTGTGTCTGT
TGGCCTGTTCCCAGCCTCAGAGGCAGGATGAGAAACCCAAGAACCCAGGCTCCAAGTATTAAAGCGGTAATGACCTAAATGTTCAGTGCAGGGCGCTCAGAAGTAAAGGCAGGTGCCTGGGAGGAACTGACCTCCCCGGGGTGCTTCTCGGAGCGGGGCCCCCAGGACAGTCCAGACAGACCACCCTGCGGCGGAGCAGCAGAGCCTTTGGGGACAAAGGGCATTGCTGGGCAGTGACGTCTTTTTCAAGGGCAAGCAACAGGGAGAGAACGCCCTTGTCTCATCAGCGGGACCTTTCTAGGCACCCGTCCTCAGACCTGCTCTTAACCCCGAGTCCAGGAACCCTCTCCCAACTCCCACAAGCCCCAGTTGAGGGGCAGACTCAGGACCAGAGGACTTAGAGCTCCTGGCTGATCCTCAGAGGCCCCCAGTTGGAACTCCGACCCCCCACTCAGCGCAGGAAGGTTCTCCAAGACACTGGCCGGTGAGCGAGCACCCAGCCCCAGCTCCTTCGGGTCACGAGCTGCTGGTCCCTTATGTGTCAAGCACCCTTGTCTTCCCAAACACCTCCCAGGCAGCGCAGAAATACCGCGGGAGACAGCGTGCTGAGCAGACCGTGAGGAATGACAGCTTTCAGCTCAGAAGCCGGGGCCACTCCGCACTGCCCCTCTCCGGCCCGGCCACACCACTCACCCTGCATCCAGGACACTTCTCCTTCAGCTTCCTGGCAATGCCCGTGATGGTGCCGCCCGTGCCCACTGAAGCCACCAGCATGTCCAGCTTCCCTGGTGGACGGATAACATTCTTGGGTCCCTGCCTGGCCAGCCCATCACTCATAGTAATAATCATTGAAAACACACTCAGCCCAAACCACGGTGGGTAACCAAAAAGTTCAAAAGAAAAACTTCTTCTCCAGTTGGAGCAGCCCTCGTTGCTGCCCTTGGTCTGTGAAAGCCTCAGAAACAGGCAGCCTGGGGCACCCCAGCCCAGTCTTTGCTCAGTGACACTCGACCCCTAAAACCCCCATTTGGCTGGATGCAGAAAGACAGGACCCTGTCCGGGGGGTGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATTCCCAATAGGAAGCCAGGGCGCCAACCTCTTGGCAACTTATCTCTAAAGGGATCTCTTGGGAAAACCTCAGTACCAACCCCCACAGGCCTTGGCACCGAGTCCCTGGAAAAGGGCCCAAGGAGCCGGCCTCATGCTTGTAACAGAGAGTGAGCTCATCGCAGATGTCACCAGCTCTGTTCTGCAGATGAATTTGATGCCGAGTCAGGGCATGATCCCAAATGAAGTCCAAGCTGTGAGCCCAGCACCAGCCTGGGCCCTGAACAGACTCGCTGTCTGCATTATCTGCAGGAGGAGCCCCTGCAGACCTGCAGAGATTGCTGGGTAAACAAATACAGCCATGCCCTGTGTTTGCTATTACAGGTAAACCACAGGCGGAGGCCAAGAGGGCACAACGGAGGGAGGAAATTGTTCTAGAGAAATGCTCTAGAAAAGCATTTCACAGAGGGAACATTTGAGCTGGGTTCTGAAGGGTGAATAGGAGTTCACCAAGGAGAGGGCAAGAGATGTGTACACTCCCAGGCAGCCAGGGATAAATGCAATCAAGATGGACAGAGGGACGCACCATCACACTGCTGCAGGATCTCATCAGCGGTGGTGTCGTAGTGAGCCAGGGGTTTGCTGGCGTTGCGGTACTGCATAGAAAGAGAGCAGAGCCCGTGAGCTGACCCCTGACACCTCAGTCACCCCCACATCCCTGACCGAGACCCTCCTAGGGAATGCCTGTCTCCAGGCCCCAGGTGCCTCACCTGGTCTAGGATGTGAGAATTGGGGATTTCGTTCTTCAGCCGCCAGGCCACCCCCACGTGTGACTCCGGGGAGTCGAACCTGGCATTGGTGGGCGTCCTCACAATCTCAGCCCCCAGTGCCCGCAGCACGTCCACCTGCAGGAGGGAAAGCGGTGGCCTGCACCTTCCGCCTGGCCCAGGCACCCTCATCCCCTGCCCTATGACCCCGCCCCTGGCCACGCCCACCCACCTTCTCGGAGCTCATCTTCTCTGGCATCACGATGATGCAGCGATAGCCCCTCACTGCCGCAGCCAGGGCCAGCCCGATCCCTGAGGGCACACAGAGGGTGAGAGGGGCCCAGTGACCCCCCAAGCCCTGCCCCGCCCCTGCCTGGGACACAGGGGCACACCCCGATGCCGGTTCCCTTAGGGCCCAGGGAAGAGGGTTCTGTGGGATTCCAAAATTGCCCAACATGGCTGCTTCTGCCTTCAAGTGCAGGGGGAGAGAGGCTGCCAGAGGCAGAAATAAAAGGTACACGTCAAGGAGGAGGAGGCAGCGGCGCAGGACAGGAGATCTGGTTCCTCCAGGCCCAGCCGGGTACACAGGCACAGGAAGAGCAGACTCCGGGTGCTCGTCTTGTGTGCCAGGCACTGCCAGGTGCCATCGCCCCGAGAGCATCGGCACTGGCCCCGAATGCTGGTCAAAGGAAGCTAGGTTGGGACACAGGCCGGCAGCGGGTGCAAGATGCCAGGGAGCAGGCGGCCAGGCGGGCCAGCACATGCGGCTGCAGCTCAGCCATCCCCCCCGGGTCCCGGCAGGCTCGGCATGGGTAGGGGACAGCCAGCCCTGGCCACCCCCTCTGGGCCTGGCACCCACCGGTGTTCCCGGATGTCGGCTCGATAATCGTGTCCCCGGGCTTCAGCGTCCCGTCGCGCTCAGCATCCTCAATCATCCGCAGGCTGATGCGGTCCTTCACGCTCCCGCCCGCGTTGAAGAACTCACACTTGGCCACTGGGAGGCAGAGATGAATCACAGAGGGGACCCCCTGACCACCCCCCCATTGATTCCTGCTCACCCCCCCATTACCTGATACACCCCAGGGTGGGGGACGGGCTTGGGGGTCTGTGGGTTCTGAAAAATTGCCACCTCTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCTGGTGGCCTCCGGCAAGCCACGTGACCAACCTGACCCTCGGTGTGTCTGT
Task1_train_28404
Assess the clinical impact of this variant on gene CBS (cystathionine beta-synthase), found on Chromosome 21. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CAGTTGAGGGGCAGACTCAGGACCAGAGGACTTAGAGCTCCTGGCTGATCCTCAGAGGCCCCCAGTTGGAACTCCGACCCCCCACTCAGCGCAGGAAGGTTCTCCAAGACACTGGCCGGTGAGCGAGCACCCAGCCCCAGCTCCTTCGGGTCACGAGCTGCTGGTCCCTTATGTGTCAAGCACCCTTGTCTTCCCAAACACCTCCCAGGCAGCGCAGAAATACCGCGGGAGACAGCGTGCTGAGCAGACCGTGAGGAATGACAGCTTTCAGCTCAGAAGCCGGGGCCACTCCGCACTGCCCCTCTCCGGCCCGGCCACACCACTCACCCTGCATCCAGGACACTTCTCCTTCAGCTTCCTGGCAATGCCCGTGATGGTGCCGCCCGTGCCCACTGAAGCCACCAGCATGTCCAGCTTCCCTGGTGGACGGATAACATTCTTGGGTCCCTGCCTGGCCAGCCCATCACTCATAGTAATAATCATTGAAAACACACTCAGCCCAAACCACGGTGGGTAACCAAAAAGTTCAAAAGAAAAACTTCTTCTCCAGTTGGAGCAGCCCTCGTTGCTGCCCTTGGTCTGTGAAAGCCTCAGAAACAGGCAGCCTGGGGCACCCCAGCCCAGTCTTTGCTCAGTGACACTCGACCCCTAAAACCCCCATTTGGCTGGATGCAGAAAGACAGGACCCTGTCCGGGGGGTGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATTCCCAATAGGAAGCCAGGGCGCCAACCTCTTGGCAACTTATCTCTAAAGGGATCTCTTGGGAAAACCTCAGTACCAACCCCCACAGGCCTTGGCACCGAGTCCCTGGAAAAGGGCCCAAGGAGCCGGCCTCATGCTTGTAACAGAGAGTGAGCTCATCGCAGATGTCACCAGCTCTGTTCTGCAGATGAATTTGATGCCGAGTCAGGGCATGATCCCAAATGAAGTCCAAGCTGTGAGCCCAGCACCAGCCTGGGCCCTGAACAGACTCGCTGTCTGCATTATCTGCAGGAGGAGCCCCTGCAGACCTGCAGAGATTGCTGGGTAAACAAATACAGCCATGCCCTGTGTTTGCTATTACAGGTAAACCACAGGCGGAGGCCAAGAGGGCACAACGGAGGGAGGAAATTGTTCTAGAGAAATGCTCTAGAAAAGCATTTCACAGAGGGAACATTTGAGCTGGGTTCTGAAGGGTGAATAGGAGTTCACCAAGGAGAGGGCAAGAGATGTGTACACTCCCAGGCAGCCAGGGATAAATGCAATCAAGATGGACAGAGGGACGCACCATCACACTGCTGCAGGATCTCATCAGCGGTGGTGTCGTAGTGAGCCAGGGGGTTGCTGGCGTTGCGGTACTGCATAGAAAGAGAGCAGAGCCCGTGAGCTGACCCCTGACACCTCAGTCACCCCCACATCCCTGACCGAGACCCTCCTAGGGAATGCCTGTCTCCAGGCCCCAGGTGCCTCACCTGGTCTAGGATGTGAGAATTGGGGATTTCGTTCTTCAGCCGCCAGGCCACCCCCACGTGTGACTCCGGGGAGTCGAACCTGGCATTGGTGGGCGTCCTCACAATCTCAGCCCCCAGTGCCCGCAGCACGTCCACCTGCAGGAGGGAAAGCGGTGGCCTGCACCTTCCGCCTGGCCCAGGCACCCTCATCCCCTGCCCTATGACCCCGCCCCTGGCCACGCCCACCCACCTTCTCGGAGCTCATCTTCTCTGGCATCACGATGATGCAGCGATAGCCCCTCACTGCCGCAGCCAGGGCCAGCCCGATCCCTGAGGGCACACAGAGGGTGAGAGGGGCCCAGTGACCCCCCAAGCCCTGCCCCGCCCCTGCCTGGGACACAGGGGCACACCCCGATGCCGGTTCCCTTAGGGCCCAGGGAAGAGGGTTCTGTGGGATTCCAAAATTGCCCAACATGGCTGCTTCTGCCTTCAAGTGCAGGGGGAGAGAGGCTGCCAGAGGCAGAAATAAAAGGTACACGTCAAGGAGGAGGAGGCAGCGGCGCAGGACAGGAGATCTGGTTCCTCCAGGCCCAGCCGGGTACACAGGCACAGGAAGAGCAGACTCCGGGTGCTCGTCTTGTGTGCCAGGCACTGCCAGGTGCCATCGCCCCGAGAGCATCGGCACTGGCCCCGAATGCTGGTCAAAGGAAGCTAGGTTGGGACACAGGCCGGCAGCGGGTGCAAGATGCCAGGGAGCAGGCGGCCAGGCGGGCCAGCACATGCGGCTGCAGCTCAGCCATCCCCCCCGGGTCCCGGCAGGCTCGGCATGGGTAGGGGACAGCCAGCCCTGGCCACCCCCTCTGGGCCTGGCACCCACCGGTGTTCCCGGATGTCGGCTCGATAATCGTGTCCCCGGGCTTCAGCGTCCCGTCGCGCTCAGCATCCTCAATCATCCGCAGGCTGATGCGGTCCTTCACGCTCCCGCCCGCGTTGAAGAACTCACACTTGGCCACTGGGAGGCAGAGATGAATCACAGAGGGGACCCCCTGACCACCCCCCCATTGATTCCTGCTCACCCCCCCATTACCTGATACACCCCAGGGTGGGGGACGGGCTTGGGGGTCTGTGGGTTCTGAAAAATTGCCACCTCTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCTGGTGGCCTCCGGCAAGCCACGTGACCAACCTGACCCTCGGTGTGTCTGTCTGTAAAACGGGCATTCCAAAACCTACTTCAAGGGCAACCACCAAGTTTAGACGTCATCCTGTACGGAGCACAGTGAGCCAGCCACGCGTGCTGCGTACGAGTTAAGGGTCCCTATTGTCTGACAAATGAGCACAGAGCCGGCCCTGCTGCCTTGGGGGTCTCTGTGAAGGGGGCTGCTCTGCTGCAGCTCCGAGATCTCCTTCCCTAGAGGGGGGCAGAGGAGGGCCAGGCTCCCACGAGGCCCCTCCTGTGAATCGGCGATCGGTTCCCAACGCACCGACCCCTGACTTCCTTCCCCCAGCGCCTGCCCCAGCTCTCACAGGTCCCCCGGCTGGGACATTAGAGCATCTCAGGATGAAAAAGTC
CAGTTGAGGGGCAGACTCAGGACCAGAGGACTTAGAGCTCCTGGCTGATCCTCAGAGGCCCCCAGTTGGAACTCCGACCCCCCACTCAGCGCAGGAAGGTTCTCCAAGACACTGGCCGGTGAGCGAGCACCCAGCCCCAGCTCCTTCGGGTCACGAGCTGCTGGTCCCTTATGTGTCAAGCACCCTTGTCTTCCCAAACACCTCCCAGGCAGCGCAGAAATACCGCGGGAGACAGCGTGCTGAGCAGACCGTGAGGAATGACAGCTTTCAGCTCAGAAGCCGGGGCCACTCCGCACTGCCCCTCTCCGGCCCGGCCACACCACTCACCCTGCATCCAGGACACTTCTCCTTCAGCTTCCTGGCAATGCCCGTGATGGTGCCGCCCGTGCCCACTGAAGCCACCAGCATGTCCAGCTTCCCTGGTGGACGGATAACATTCTTGGGTCCCTGCCTGGCCAGCCCATCACTCATAGTAATAATCATTGAAAACACACTCAGCCCAAACCACGGTGGGTAACCAAAAAGTTCAAAAGAAAAACTTCTTCTCCAGTTGGAGCAGCCCTCGTTGCTGCCCTTGGTCTGTGAAAGCCTCAGAAACAGGCAGCCTGGGGCACCCCAGCCCAGTCTTTGCTCAGTGACACTCGACCCCTAAAACCCCCATTTGGCTGGATGCAGAAAGACAGGACCCTGTCCGGGGGGTGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATTCCCAATAGGAAGCCAGGGCGCCAACCTCTTGGCAACTTATCTCTAAAGGGATCTCTTGGGAAAACCTCAGTACCAACCCCCACAGGCCTTGGCACCGAGTCCCTGGAAAAGGGCCCAAGGAGCCGGCCTCATGCTTGTAACAGAGAGTGAGCTCATCGCAGATGTCACCAGCTCTGTTCTGCAGATGAATTTGATGCCGAGTCAGGGCATGATCCCAAATGAAGTCCAAGCTGTGAGCCCAGCACCAGCCTGGGCCCTGAACAGACTCGCTGTCTGCATTATCTGCAGGAGGAGCCCCTGCAGACCTGCAGAGATTGCTGGGTAAACAAATACAGCCATGCCCTGTGTTTGCTATTACAGGTAAACCACAGGCGGAGGCCAAGAGGGCACAACGGAGGGAGGAAATTGTTCTAGAGAAATGCTCTAGAAAAGCATTTCACAGAGGGAACATTTGAGCTGGGTTCTGAAGGGTGAATAGGAGTTCACCAAGGAGAGGGCAAGAGATGTGTACACTCCCAGGCAGCCAGGGATAAATGCAATCAAGATGGACAGAGGGACGCACCATCACACTGCTGCAGGATCTCATCAGCGGTGGTGTCGTAGTGAGCCAGGGGGTTGCTGGCGTTGCGGTACTGCATAGAAAGAGAGCAGAGCCCGTGAGCTGACCCCTGACACCTCAGTCACCCCCACATCCCTGACCGAGACCCTCCTAGGGAATGCCTGTCTCCAGGCCCCAGGTGCCTCACCTGGTCTAGGATGTGAGAATTGGGGATTTCGTTCTTCAGCCGCCAGGCCACCCCCACGTGTGACTCCGGGGAGTCGAACCTGGCATTGGTGGGCGTCCTCACAATCTCAGCCCCCAGTGCCCGCAGCACGTCCACCTGCAGGAGGGAAAGCGGTGGCCTGCACCTTCCGCCTGGCCCAGGCACCCTCATCCCCTGCCCTATGACCCCGCCCCTGGCCACGCCCACCCACCTTCTTGGAGCTCATCTTCTCTGGCATCACGATGATGCAGCGATAGCCCCTCACTGCCGCAGCCAGGGCCAGCCCGATCCCTGAGGGCACACAGAGGGTGAGAGGGGCCCAGTGACCCCCCAAGCCCTGCCCCGCCCCTGCCTGGGACACAGGGGCACACCCCGATGCCGGTTCCCTTAGGGCCCAGGGAAGAGGGTTCTGTGGGATTCCAAAATTGCCCAACATGGCTGCTTCTGCCTTCAAGTGCAGGGGGAGAGAGGCTGCCAGAGGCAGAAATAAAAGGTACACGTCAAGGAGGAGGAGGCAGCGGCGCAGGACAGGAGATCTGGTTCCTCCAGGCCCAGCCGGGTACACAGGCACAGGAAGAGCAGACTCCGGGTGCTCGTCTTGTGTGCCAGGCACTGCCAGGTGCCATCGCCCCGAGAGCATCGGCACTGGCCCCGAATGCTGGTCAAAGGAAGCTAGGTTGGGACACAGGCCGGCAGCGGGTGCAAGATGCCAGGGAGCAGGCGGCCAGGCGGGCCAGCACATGCGGCTGCAGCTCAGCCATCCCCCCCGGGTCCCGGCAGGCTCGGCATGGGTAGGGGACAGCCAGCCCTGGCCACCCCCTCTGGGCCTGGCACCCACCGGTGTTCCCGGATGTCGGCTCGATAATCGTGTCCCCGGGCTTCAGCGTCCCGTCGCGCTCAGCATCCTCAATCATCCGCAGGCTGATGCGGTCCTTCACGCTCCCGCCCGCGTTGAAGAACTCACACTTGGCCACTGGGAGGCAGAGATGAATCACAGAGGGGACCCCCTGACCACCCCCCCATTGATTCCTGCTCACCCCCCCATTACCTGATACACCCCAGGGTGGGGGACGGGCTTGGGGGTCTGTGGGTTCTGAAAAATTGCCACCTCTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCTGGTGGCCTCCGGCAAGCCACGTGACCAACCTGACCCTCGGTGTGTCTGTCTGTAAAACGGGCATTCCAAAACCTACTTCAAGGGCAACCACCAAGTTTAGACGTCATCCTGTACGGAGCACAGTGAGCCAGCCACGCGTGCTGCGTACGAGTTAAGGGTCCCTATTGTCTGACAAATGAGCACAGAGCCGGCCCTGCTGCCTTGGGGGTCTCTGTGAAGGGGGCTGCTCTGCTGCAGCTCCGAGATCTCCTTCCCTAGAGGGGGGCAGAGGAGGGCCAGGCTCCCACGAGGCCCCTCCTGTGAATCGGCGATCGGTTCCCAACGCACCGACCCCTGACTTCCTTCCCCCAGCGCCTGCCCCAGCTCTCACAGGTCCCCCGGCTGGGACATTAGAGCATCTCAGGATGAAAAAGTC
Task1_train_28405
This sequence variant lies in CBS (cystathionine beta-synthase) on Chromosome 21. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Homocystinuria
CAGTTGAGGGGCAGACTCAGGACCAGAGGACTTAGAGCTCCTGGCTGATCCTCAGAGGCCCCCAGTTGGAACTCCGACCCCCCACTCAGCGCAGGAAGGTTCTCCAAGACACTGGCCGGTGAGCGAGCACCCAGCCCCAGCTCCTTCGGGTCACGAGCTGCTGGTCCCTTATGTGTCAAGCACCCTTGTCTTCCCAAACACCTCCCAGGCAGCGCAGAAATACCGCGGGAGACAGCGTGCTGAGCAGACCGTGAGGAATGACAGCTTTCAGCTCAGAAGCCGGGGCCACTCCGCACTGCCCCTCTCCGGCCCGGCCACACCACTCACCCTGCATCCAGGACACTTCTCCTTCAGCTTCCTGGCAATGCCCGTGATGGTGCCGCCCGTGCCCACTGAAGCCACCAGCATGTCCAGCTTCCCTGGTGGACGGATAACATTCTTGGGTCCCTGCCTGGCCAGCCCATCACTCATAGTAATAATCATTGAAAACACACTCAGCCCAAACCACGGTGGGTAACCAAAAAGTTCAAAAGAAAAACTTCTTCTCCAGTTGGAGCAGCCCTCGTTGCTGCCCTTGGTCTGTGAAAGCCTCAGAAACAGGCAGCCTGGGGCACCCCAGCCCAGTCTTTGCTCAGTGACACTCGACCCCTAAAACCCCCATTTGGCTGGATGCAGAAAGACAGGACCCTGTCCGGGGGGTGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATTCCCAATAGGAAGCCAGGGCGCCAACCTCTTGGCAACTTATCTCTAAAGGGATCTCTTGGGAAAACCTCAGTACCAACCCCCACAGGCCTTGGCACCGAGTCCCTGGAAAAGGGCCCAAGGAGCCGGCCTCATGCTTGTAACAGAGAGTGAGCTCATCGCAGATGTCACCAGCTCTGTTCTGCAGATGAATTTGATGCCGAGTCAGGGCATGATCCCAAATGAAGTCCAAGCTGTGAGCCCAGCACCAGCCTGGGCCCTGAACAGACTCGCTGTCTGCATTATCTGCAGGAGGAGCCCCTGCAGACCTGCAGAGATTGCTGGGTAAACAAATACAGCCATGCCCTGTGTTTGCTATTACAGGTAAACCACAGGCGGAGGCCAAGAGGGCACAACGGAGGGAGGAAATTGTTCTAGAGAAATGCTCTAGAAAAGCATTTCACAGAGGGAACATTTGAGCTGGGTTCTGAAGGGTGAATAGGAGTTCACCAAGGAGAGGGCAAGAGATGTGTACACTCCCAGGCAGCCAGGGATAAATGCAATCAAGATGGACAGAGGGACGCACCATCACACTGCTGCAGGATCTCATCAGCGGTGGTGTCGTAGTGAGCCAGGGGGTTGCTGGCGTTGCGGTACTGCATAGAAAGAGAGCAGAGCCCGTGAGCTGACCCCTGACACCTCAGTCACCCCCACATCCCTGACCGAGACCCTCCTAGGGAATGCCTGTCTCCAGGCCCCAGGTGCCTCACCTGGTCTAGGATGTGAGAATTGGGGATTTCGTTCTTCAGCCGCCAGGCCACCCCCACGTGTGACTCCGGGGAGTCGAACCTGGCATTGGTGGGCGTCCTCACAATCTCAGCCCCCAGTGCCCGCAGCACGTCCACCTGCAGGAGGGAAAGCGGTGGCCTGCACCTTCCGCCTGGCCCAGGCACCCTCATCCCCTGCCCTATGACCCCGCCCCTGGCCACGCCCACCCACCTTCTCGGAGCTCATCTTCTCTGGCATCACGATGATGCAGCGATAGCCCCTCACTGCCGCAGCCAGGGCCAGCCCGATCCCTGAGGGCACACAGAGGGTGAGAGGGGCCCAGTGACCCCCCAAGCCCTGCCCCGCCCCTGCCTGGGACACAGGGGCACACCCCGATGCCGGTTCCCTTAGGGCCCAGGGAAGAGGGTTCTGTGGGATTCCAAAATTGCCCAACATGGCTGCTTCTGCCTTCAAGTGCAGGGGGAGAGAGGCTGCCAGAGGCAGAAATAAAAGGTACACGTCAAGGAGGAGGAGGCAGCGGCGCAGGACAGGAGATCTGGTTCCTCCAGGCCCAGCCGGGTACACAGGCACAGGAAGAGCAGACTCCGGGTGCTCGTCTTGTGTGCCAGGCACTGCCAGGTGCCATCGCCCCGAGAGCATCGGCACTGGCCCCGAATGCTGGTCAAAGGAAGCTAGGTTGGGACACAGGCCGGCAGCGGGTGCAAGATGCCAGGGAGCAGGCGGCCAGGCGGGCCAGCACATGCGGCTGCAGCTCAGCCATCCCCCCCGGGTCCCGGCAGGCTCGGCATGGGTAGGGGACAGCCAGCCCTGGCCACCCCCTCTGGGCCTGGCACCCACCGGTGTTCCCGGATGTCGGCTCGATAATCGTGTCCCCGGGCTTCAGCGTCCCGTCGCGCTCAGCATCCTCAATCATCCGCAGGCTGATGCGGTCCTTCACGCTCCCGCCCGCGTTGAAGAACTCACACTTGGCCACTGGGAGGCAGAGATGAATCACAGAGGGGACCCCCTGACCACCCCCCCATTGATTCCTGCTCACCCCCCCATTACCTGATACACCCCAGGGTGGGGGACGGGCTTGGGGGTCTGTGGGTTCTGAAAAATTGCCACCTCTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCTGGTGGCCTCCGGCAAGCCACGTGACCAACCTGACCCTCGGTGTGTCTGTCTGTAAAACGGGCATTCCAAAACCTACTTCAAGGGCAACCACCAAGTTTAGACGTCATCCTGTACGGAGCACAGTGAGCCAGCCACGCGTGCTGCGTACGAGTTAAGGGTCCCTATTGTCTGACAAATGAGCACAGAGCCGGCCCTGCTGCCTTGGGGGTCTCTGTGAAGGGGGCTGCTCTGCTGCAGCTCCGAGATCTCCTTCCCTAGAGGGGGGCAGAGGAGGGCCAGGCTCCCACGAGGCCCCTCCTGTGAATCGGCGATCGGTTCCCAACGCACCGACCCCTGACTTCCTTCCCCCAGCGCCTGCCCCAGCTCTCACAGGTCCCCCGGCTGGGACATTAGAGCATCTCAGGATGAAAAAGTC
CAGTTGAGGGGCAGACTCAGGACCAGAGGACTTAGAGCTCCTGGCTGATCCTCAGAGGCCCCCAGTTGGAACTCCGACCCCCCACTCAGCGCAGGAAGGTTCTCCAAGACACTGGCCGGTGAGCGAGCACCCAGCCCCAGCTCCTTCGGGTCACGAGCTGCTGGTCCCTTATGTGTCAAGCACCCTTGTCTTCCCAAACACCTCCCAGGCAGCGCAGAAATACCGCGGGAGACAGCGTGCTGAGCAGACCGTGAGGAATGACAGCTTTCAGCTCAGAAGCCGGGGCCACTCCGCACTGCCCCTCTCCGGCCCGGCCACACCACTCACCCTGCATCCAGGACACTTCTCCTTCAGCTTCCTGGCAATGCCCGTGATGGTGCCGCCCGTGCCCACTGAAGCCACCAGCATGTCCAGCTTCCCTGGTGGACGGATAACATTCTTGGGTCCCTGCCTGGCCAGCCCATCACTCATAGTAATAATCATTGAAAACACACTCAGCCCAAACCACGGTGGGTAACCAAAAAGTTCAAAAGAAAAACTTCTTCTCCAGTTGGAGCAGCCCTCGTTGCTGCCCTTGGTCTGTGAAAGCCTCAGAAACAGGCAGCCTGGGGCACCCCAGCCCAGTCTTTGCTCAGTGACACTCGACCCCTAAAACCCCCATTTGGCTGGATGCAGAAAGACAGGACCCTGTCCGGGGGGTGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATTCCCAATAGGAAGCCAGGGCGCCAACCTCTTGGCAACTTATCTCTAAAGGGATCTCTTGGGAAAACCTCAGTACCAACCCCCACAGGCCTTGGCACCGAGTCCCTGGAAAAGGGCCCAAGGAGCCGGCCTCATGCTTGTAACAGAGAGTGAGCTCATCGCAGATGTCACCAGCTCTGTTCTGCAGATGAATTTGATGCCGAGTCAGGGCATGATCCCAAATGAAGTCCAAGCTGTGAGCCCAGCACCAGCCTGGGCCCTGAACAGACTCGCTGTCTGCATTATCTGCAGGAGGAGCCCCTGCAGACCTGCAGAGATTGCTGGGTAAACAAATACAGCCATGCCCTGTGTTTGCTATTACAGGTAAACCACAGGCGGAGGCCAAGAGGGCACAACGGAGGGAGGAAATTGTTCTAGAGAAATGCTCTAGAAAAGCATTTCACAGAGGGAACATTTGAGCTGGGTTCTGAAGGGTGAATAGGAGTTCACCAAGGAGAGGGCAAGAGATGTGTACACTCCCAGGCAGCCAGGGATAAATGCAATCAAGATGGACAGAGGGACGCACCATCACACTGCTGCAGGATCTCATCAGCGGTGGTGTCGTAGTGAGCCAGGGGGTTGCTGGCGTTGCGGTACTGCATAGAAAGAGAGCAGAGCCCGTGAGCTGACCCCTGACACCTCAGTCACCCCCACATCCCTGACCGAGACCCTCCTAGGGAATGCCTGTCTCCAGGCCCCAGGTGCCTCACCTGGTCTAGGATGTGAGAATTGGGGATTTCGTTCTTCAGCCGCCAGGCCACCCCCACGTGTGACTCCGGGGAGTCGAACCTGGCATTGGTGGGCGTCCTCACAATCTCAGCCCCCAGTGCCCGCAGCACGTCCACCTGCAGGAGGGAAAGCGGTGGCCTGCACCTTCCGCCTGGCCCAGGCACCCTCATCCCCTGCCCTATGACCCCGCCCCTGGCCACGCCCACCCACCTTCTTGGAGCTCATCTTCTCTGGCATCACGATGATGCAGCGATAGCCCCTCACTGCCGCAGCCAGGGCCAGCCCGATCCCTGAGGGCACACAGAGGGTGAGAGGGGCCCAGTGACCCCCCAAGCCCTGCCCCGCCCCTGCCTGGGACACAGGGGCACACCCCGATGCCGGTTCCCTTAGGGCCCAGGGAAGAGGGTTCTGTGGGATTCCAAAATTGCCCAACATGGCTGCTTCTGCCTTCAAGTGCAGGGGGAGAGAGGCTGCCAGAGGCAGAAATAAAAGGTACACGTCAAGGAGGAGGAGGCAGCGGCGCAGGACAGGAGATCTGGTTCCTCCAGGCCCAGCCGGGTACACAGGCACAGGAAGAGCAGACTCCGGGTGCTCGTCTTGTGTGCCAGGCACTGCCAGGTGCCATCGCCCCGAGAGCATCGGCACTGGCCCCGAATGCTGGTCAAAGGAAGCTAGGTTGGGACACAGGCCGGCAGCGGGTGCAAGATGCCAGGGAGCAGGCGGCCAGGCGGGCCAGCACATGCGGCTGCAGCTCAGCCATCCCCCCCGGGTCCCGGCAGGCTCGGCATGGGTAGGGGACAGCCAGCCCTGGCCACCCCCTCTGGGCCTGGCACCCACCGGTGTTCCCGGATGTCGGCTCGATAATCGTGTCCCCGGGCTTCAGCGTCCCGTCGCGCTCAGCATCCTCAATCATCCGCAGGCTGATGCGGTCCTTCACGCTCCCGCCCGCGTTGAAGAACTCACACTTGGCCACTGGGAGGCAGAGATGAATCACAGAGGGGACCCCCTGACCACCCCCCCATTGATTCCTGCTCACCCCCCCATTACCTGATACACCCCAGGGTGGGGGACGGGCTTGGGGGTCTGTGGGTTCTGAAAAATTGCCACCTCTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCTGGTGGCCTCCGGCAAGCCACGTGACCAACCTGACCCTCGGTGTGTCTGTCTGTAAAACGGGCATTCCAAAACCTACTTCAAGGGCAACCACCAAGTTTAGACGTCATCCTGTACGGAGCACAGTGAGCCAGCCACGCGTGCTGCGTACGAGTTAAGGGTCCCTATTGTCTGACAAATGAGCACAGAGCCGGCCCTGCTGCCTTGGGGGTCTCTGTGAAGGGGGCTGCTCTGCTGCAGCTCCGAGATCTCCTTCCCTAGAGGGGGGCAGAGGAGGGCCAGGCTCCCACGAGGCCCCTCCTGTGAATCGGCGATCGGTTCCCAACGCACCGACCCCTGACTTCCTTCCCCCAGCGCCTGCCCCAGCTCTCACAGGTCCCCCGGCTGGGACATTAGAGCATCTCAGGATGAAAAAGTC
Task1_train_28406
This variant impacts the gene CBS (cystathionine beta-synthase) on Chromosome 21. Is the change likely to result in a pathogenic outcome?
Pathogenic; Familial thoracic aortic aneurysm and aortic dissection
TAGAGCTCCTGGCTGATCCTCAGAGGCCCCCAGTTGGAACTCCGACCCCCCACTCAGCGCAGGAAGGTTCTCCAAGACACTGGCCGGTGAGCGAGCACCCAGCCCCAGCTCCTTCGGGTCACGAGCTGCTGGTCCCTTATGTGTCAAGCACCCTTGTCTTCCCAAACACCTCCCAGGCAGCGCAGAAATACCGCGGGAGACAGCGTGCTGAGCAGACCGTGAGGAATGACAGCTTTCAGCTCAGAAGCCGGGGCCACTCCGCACTGCCCCTCTCCGGCCCGGCCACACCACTCACCCTGCATCCAGGACACTTCTCCTTCAGCTTCCTGGCAATGCCCGTGATGGTGCCGCCCGTGCCCACTGAAGCCACCAGCATGTCCAGCTTCCCTGGTGGACGGATAACATTCTTGGGTCCCTGCCTGGCCAGCCCATCACTCATAGTAATAATCATTGAAAACACACTCAGCCCAAACCACGGTGGGTAACCAAAAAGTTCAAAAGAAAAACTTCTTCTCCAGTTGGAGCAGCCCTCGTTGCTGCCCTTGGTCTGTGAAAGCCTCAGAAACAGGCAGCCTGGGGCACCCCAGCCCAGTCTTTGCTCAGTGACACTCGACCCCTAAAACCCCCATTTGGCTGGATGCAGAAAGACAGGACCCTGTCCGGGGGGTGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATTCCCAATAGGAAGCCAGGGCGCCAACCTCTTGGCAACTTATCTCTAAAGGGATCTCTTGGGAAAACCTCAGTACCAACCCCCACAGGCCTTGGCACCGAGTCCCTGGAAAAGGGCCCAAGGAGCCGGCCTCATGCTTGTAACAGAGAGTGAGCTCATCGCAGATGTCACCAGCTCTGTTCTGCAGATGAATTTGATGCCGAGTCAGGGCATGATCCCAAATGAAGTCCAAGCTGTGAGCCCAGCACCAGCCTGGGCCCTGAACAGACTCGCTGTCTGCATTATCTGCAGGAGGAGCCCCTGCAGACCTGCAGAGATTGCTGGGTAAACAAATACAGCCATGCCCTGTGTTTGCTATTACAGGTAAACCACAGGCGGAGGCCAAGAGGGCACAACGGAGGGAGGAAATTGTTCTAGAGAAATGCTCTAGAAAAGCATTTCACAGAGGGAACATTTGAGCTGGGTTCTGAAGGGTGAATAGGAGTTCACCAAGGAGAGGGCAAGAGATGTGTACACTCCCAGGCAGCCAGGGATAAATGCAATCAAGATGGACAGAGGGACGCACCATCACACTGCTGCAGGATCTCATCAGCGGTGGTGTCGTAGTGAGCCAGGGGGTTGCTGGCGTTGCGGTACTGCATAGAAAGAGAGCAGAGCCCGTGAGCTGACCCCTGACACCTCAGTCACCCCCACATCCCTGACCGAGACCCTCCTAGGGAATGCCTGTCTCCAGGCCCCAGGTGCCTCACCTGGTCTAGGATGTGAGAATTGGGGATTTCGTTCTTCAGCCGCCAGGCCACCCCCACGTGTGACTCCGGGGAGTCGAACCTGGCATTGGTGGGCGTCCTCACAATCTCAGCCCCCAGTGCCCGCAGCACGTCCACCTGCAGGAGGGAAAGCGGTGGCCTGCACCTTCCGCCTGGCCCAGGCACCCTCATCCCCTGCCCTATGACCCCGCCCCTGGCCACGCCCACCCACCTTCTCGGAGCTCATCTTCTCTGGCATCACGATGATGCAGCGATAGCCCCTCACTGCCGCAGCCAGGGCCAGCCCGATCCCTGAGGGCACACAGAGGGTGAGAGGGGCCCAGTGACCCCCCAAGCCCTGCCCCGCCCCTGCCTGGGACACAGGGGCACACCCCGATGCCGGTTCCCTTAGGGCCCAGGGAAGAGGGTTCTGTGGGATTCCAAAATTGCCCAACATGGCTGCTTCTGCCTTCAAGTGCAGGGGGAGAGAGGCTGCCAGAGGCAGAAATAAAAGGTACACGTCAAGGAGGAGGAGGCAGCGGCGCAGGACAGGAGATCTGGTTCCTCCAGGCCCAGCCGGGTACACAGGCACAGGAAGAGCAGACTCCGGGTGCTCGTCTTGTGTGCCAGGCACTGCCAGGTGCCATCGCCCCGAGAGCATCGGCACTGGCCCCGAATGCTGGTCAAAGGAAGCTAGGTTGGGACACAGGCCGGCAGCGGGTGCAAGATGCCAGGGAGCAGGCGGCCAGGCGGGCCAGCACATGCGGCTGCAGCTCAGCCATCCCCCCCGGGTCCCGGCAGGCTCGGCATGGGTAGGGGACAGCCAGCCCTGGCCACCCCCTCTGGGCCTGGCACCCACCGGTGTTCCCGGATGTCGGCTCGATAATCGTGTCCCCGGGCTTCAGCGTCCCGTCGCGCTCAGCATCCTCAATCATCCGCAGGCTGATGCGGTCCTTCACGCTCCCGCCCGCGTTGAAGAACTCACACTTGGCCACTGGGAGGCAGAGATGAATCACAGAGGGGACCCCCTGACCACCCCCCCATTGATTCCTGCTCACCCCCCCATTACCTGATACACCCCAGGGTGGGGGACGGGCTTGGGGGTCTGTGGGTTCTGAAAAATTGCCACCTCTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCTGGTGGCCTCCGGCAAGCCACGTGACCAACCTGACCCTCGGTGTGTCTGTCTGTAAAACGGGCATTCCAAAACCTACTTCAAGGGCAACCACCAAGTTTAGACGTCATCCTGTACGGAGCACAGTGAGCCAGCCACGCGTGCTGCGTACGAGTTAAGGGTCCCTATTGTCTGACAAATGAGCACAGAGCCGGCCCTGCTGCCTTGGGGGTCTCTGTGAAGGGGGCTGCTCTGCTGCAGCTCCGAGATCTCCTTCCCTAGAGGGGGGCAGAGGAGGGCCAGGCTCCCACGAGGCCCCTCCTGTGAATCGGCGATCGGTTCCCAACGCACCGACCCCTGACTTCCTTCCCCCAGCGCCTGCCCCAGCTCTCACAGGTCCCCCGGCTGGGACATTAGAGCATCTCAGGATGAAAAAGTCCCAAGCCATGTTACTGGTTCCCTCTCCTTCCC
TAGAGCTCCTGGCTGATCCTCAGAGGCCCCCAGTTGGAACTCCGACCCCCCACTCAGCGCAGGAAGGTTCTCCAAGACACTGGCCGGTGAGCGAGCACCCAGCCCCAGCTCCTTCGGGTCACGAGCTGCTGGTCCCTTATGTGTCAAGCACCCTTGTCTTCCCAAACACCTCCCAGGCAGCGCAGAAATACCGCGGGAGACAGCGTGCTGAGCAGACCGTGAGGAATGACAGCTTTCAGCTCAGAAGCCGGGGCCACTCCGCACTGCCCCTCTCCGGCCCGGCCACACCACTCACCCTGCATCCAGGACACTTCTCCTTCAGCTTCCTGGCAATGCCCGTGATGGTGCCGCCCGTGCCCACTGAAGCCACCAGCATGTCCAGCTTCCCTGGTGGACGGATAACATTCTTGGGTCCCTGCCTGGCCAGCCCATCACTCATAGTAATAATCATTGAAAACACACTCAGCCCAAACCACGGTGGGTAACCAAAAAGTTCAAAAGAAAAACTTCTTCTCCAGTTGGAGCAGCCCTCGTTGCTGCCCTTGGTCTGTGAAAGCCTCAGAAACAGGCAGCCTGGGGCACCCCAGCCCAGTCTTTGCTCAGTGACACTCGACCCCTAAAACCCCCATTTGGCTGGATGCAGAAAGACAGGACCCTGTCCGGGGGGTGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATTCCCAATAGGAAGCCAGGGCGCCAACCTCTTGGCAACTTATCTCTAAAGGGATCTCTTGGGAAAACCTCAGTACCAACCCCCACAGGCCTTGGCACCGAGTCCCTGGAAAAGGGCCCAAGGAGCCGGCCTCATGCTTGTAACAGAGAGTGAGCTCATCGCAGATGTCACCAGCTCTGTTCTGCAGATGAATTTGATGCCGAGTCAGGGCATGATCCCAAATGAAGTCCAAGCTGTGAGCCCAGCACCAGCCTGGGCCCTGAACAGACTCGCTGTCTGCATTATCTGCAGGAGGAGCCCCTGCAGACCTGCAGAGATTGCTGGGTAAACAAATACAGCCATGCCCTGTGTTTGCTATTACAGGTAAACCACAGGCGGAGGCCAAGAGGGCACAACGGAGGGAGGAAATTGTTCTAGAGAAATGCTCTAGAAAAGCATTTCACAGAGGGAACATTTGAGCTGGGTTCTGAAGGGTGAATAGGAGTTCACCAAGGAGAGGGCAAGAGATGTGTACACTCCCAGGCAGCCAGGGATAAATGCAATCAAGATGGACAGAGGGACGCACCATCACACTGCTGCAGGATCTCATCAGCGGTGGTGTCGTAGTGAGCCAGGGGGTTGCTGGCGTTGCGGTACTGCATAGAAAGAGAGCAGAGCCCGTGAGCTGACCCCTGACACCTCAGTCACCCCCACATCCCTGACCGAGACCCTCCTAGGGAATGCCTGTCTCCAGGCCCCAGGTGCCTCACCTGGTCTAGGATGTGAGAATTGGGGATTTCGTTCTTCAGCCGCCAGGCCACCCCCACGTGTGACTCCGGGGAGTCGAACCTGGCATTGGTGGGCGTCCTCACAATCTCAGCCCCCAGTGCCCGCAGCACGTCCACCTGCAGGAGGGAAAGCGGTGGCCTGCACCTTCCGCCTGGCCCAGGCACCCTCATCCCCTGCCCTATGACCCCGCCCCTGGCCACGCCCACCCACCTTCTCGGAGCTCATCTTCTCTGGCATCACGATGATGTAGCGATAGCCCCTCACTGCCGCAGCCAGGGCCAGCCCGATCCCTGAGGGCACACAGAGGGTGAGAGGGGCCCAGTGACCCCCCAAGCCCTGCCCCGCCCCTGCCTGGGACACAGGGGCACACCCCGATGCCGGTTCCCTTAGGGCCCAGGGAAGAGGGTTCTGTGGGATTCCAAAATTGCCCAACATGGCTGCTTCTGCCTTCAAGTGCAGGGGGAGAGAGGCTGCCAGAGGCAGAAATAAAAGGTACACGTCAAGGAGGAGGAGGCAGCGGCGCAGGACAGGAGATCTGGTTCCTCCAGGCCCAGCCGGGTACACAGGCACAGGAAGAGCAGACTCCGGGTGCTCGTCTTGTGTGCCAGGCACTGCCAGGTGCCATCGCCCCGAGAGCATCGGCACTGGCCCCGAATGCTGGTCAAAGGAAGCTAGGTTGGGACACAGGCCGGCAGCGGGTGCAAGATGCCAGGGAGCAGGCGGCCAGGCGGGCCAGCACATGCGGCTGCAGCTCAGCCATCCCCCCCGGGTCCCGGCAGGCTCGGCATGGGTAGGGGACAGCCAGCCCTGGCCACCCCCTCTGGGCCTGGCACCCACCGGTGTTCCCGGATGTCGGCTCGATAATCGTGTCCCCGGGCTTCAGCGTCCCGTCGCGCTCAGCATCCTCAATCATCCGCAGGCTGATGCGGTCCTTCACGCTCCCGCCCGCGTTGAAGAACTCACACTTGGCCACTGGGAGGCAGAGATGAATCACAGAGGGGACCCCCTGACCACCCCCCCATTGATTCCTGCTCACCCCCCCATTACCTGATACACCCCAGGGTGGGGGACGGGCTTGGGGGTCTGTGGGTTCTGAAAAATTGCCACCTCTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCTGGTGGCCTCCGGCAAGCCACGTGACCAACCTGACCCTCGGTGTGTCTGTCTGTAAAACGGGCATTCCAAAACCTACTTCAAGGGCAACCACCAAGTTTAGACGTCATCCTGTACGGAGCACAGTGAGCCAGCCACGCGTGCTGCGTACGAGTTAAGGGTCCCTATTGTCTGACAAATGAGCACAGAGCCGGCCCTGCTGCCTTGGGGGTCTCTGTGAAGGGGGCTGCTCTGCTGCAGCTCCGAGATCTCCTTCCCTAGAGGGGGGCAGAGGAGGGCCAGGCTCCCACGAGGCCCCTCCTGTGAATCGGCGATCGGTTCCCAACGCACCGACCCCTGACTTCCTTCCCCCAGCGCCTGCCCCAGCTCTCACAGGTCCCCCGGCTGGGACATTAGAGCATCTCAGGATGAAAAAGTCCCAAGCCATGTTACTGGTTCCCTCTCCTTCCC
Task1_train_28407
A mutation on Chromosome 21 affecting CBS (cystathionine beta-synthase) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Classic homocystinuria
TAGAGCTCCTGGCTGATCCTCAGAGGCCCCCAGTTGGAACTCCGACCCCCCACTCAGCGCAGGAAGGTTCTCCAAGACACTGGCCGGTGAGCGAGCACCCAGCCCCAGCTCCTTCGGGTCACGAGCTGCTGGTCCCTTATGTGTCAAGCACCCTTGTCTTCCCAAACACCTCCCAGGCAGCGCAGAAATACCGCGGGAGACAGCGTGCTGAGCAGACCGTGAGGAATGACAGCTTTCAGCTCAGAAGCCGGGGCCACTCCGCACTGCCCCTCTCCGGCCCGGCCACACCACTCACCCTGCATCCAGGACACTTCTCCTTCAGCTTCCTGGCAATGCCCGTGATGGTGCCGCCCGTGCCCACTGAAGCCACCAGCATGTCCAGCTTCCCTGGTGGACGGATAACATTCTTGGGTCCCTGCCTGGCCAGCCCATCACTCATAGTAATAATCATTGAAAACACACTCAGCCCAAACCACGGTGGGTAACCAAAAAGTTCAAAAGAAAAACTTCTTCTCCAGTTGGAGCAGCCCTCGTTGCTGCCCTTGGTCTGTGAAAGCCTCAGAAACAGGCAGCCTGGGGCACCCCAGCCCAGTCTTTGCTCAGTGACACTCGACCCCTAAAACCCCCATTTGGCTGGATGCAGAAAGACAGGACCCTGTCCGGGGGGTGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATTCCCAATAGGAAGCCAGGGCGCCAACCTCTTGGCAACTTATCTCTAAAGGGATCTCTTGGGAAAACCTCAGTACCAACCCCCACAGGCCTTGGCACCGAGTCCCTGGAAAAGGGCCCAAGGAGCCGGCCTCATGCTTGTAACAGAGAGTGAGCTCATCGCAGATGTCACCAGCTCTGTTCTGCAGATGAATTTGATGCCGAGTCAGGGCATGATCCCAAATGAAGTCCAAGCTGTGAGCCCAGCACCAGCCTGGGCCCTGAACAGACTCGCTGTCTGCATTATCTGCAGGAGGAGCCCCTGCAGACCTGCAGAGATTGCTGGGTAAACAAATACAGCCATGCCCTGTGTTTGCTATTACAGGTAAACCACAGGCGGAGGCCAAGAGGGCACAACGGAGGGAGGAAATTGTTCTAGAGAAATGCTCTAGAAAAGCATTTCACAGAGGGAACATTTGAGCTGGGTTCTGAAGGGTGAATAGGAGTTCACCAAGGAGAGGGCAAGAGATGTGTACACTCCCAGGCAGCCAGGGATAAATGCAATCAAGATGGACAGAGGGACGCACCATCACACTGCTGCAGGATCTCATCAGCGGTGGTGTCGTAGTGAGCCAGGGGGTTGCTGGCGTTGCGGTACTGCATAGAAAGAGAGCAGAGCCCGTGAGCTGACCCCTGACACCTCAGTCACCCCCACATCCCTGACCGAGACCCTCCTAGGGAATGCCTGTCTCCAGGCCCCAGGTGCCTCACCTGGTCTAGGATGTGAGAATTGGGGATTTCGTTCTTCAGCCGCCAGGCCACCCCCACGTGTGACTCCGGGGAGTCGAACCTGGCATTGGTGGGCGTCCTCACAATCTCAGCCCCCAGTGCCCGCAGCACGTCCACCTGCAGGAGGGAAAGCGGTGGCCTGCACCTTCCGCCTGGCCCAGGCACCCTCATCCCCTGCCCTATGACCCCGCCCCTGGCCACGCCCACCCACCTTCTCGGAGCTCATCTTCTCTGGCATCACGATGATGCAGCGATAGCCCCTCACTGCCGCAGCCAGGGCCAGCCCGATCCCTGAGGGCACACAGAGGGTGAGAGGGGCCCAGTGACCCCCCAAGCCCTGCCCCGCCCCTGCCTGGGACACAGGGGCACACCCCGATGCCGGTTCCCTTAGGGCCCAGGGAAGAGGGTTCTGTGGGATTCCAAAATTGCCCAACATGGCTGCTTCTGCCTTCAAGTGCAGGGGGAGAGAGGCTGCCAGAGGCAGAAATAAAAGGTACACGTCAAGGAGGAGGAGGCAGCGGCGCAGGACAGGAGATCTGGTTCCTCCAGGCCCAGCCGGGTACACAGGCACAGGAAGAGCAGACTCCGGGTGCTCGTCTTGTGTGCCAGGCACTGCCAGGTGCCATCGCCCCGAGAGCATCGGCACTGGCCCCGAATGCTGGTCAAAGGAAGCTAGGTTGGGACACAGGCCGGCAGCGGGTGCAAGATGCCAGGGAGCAGGCGGCCAGGCGGGCCAGCACATGCGGCTGCAGCTCAGCCATCCCCCCCGGGTCCCGGCAGGCTCGGCATGGGTAGGGGACAGCCAGCCCTGGCCACCCCCTCTGGGCCTGGCACCCACCGGTGTTCCCGGATGTCGGCTCGATAATCGTGTCCCCGGGCTTCAGCGTCCCGTCGCGCTCAGCATCCTCAATCATCCGCAGGCTGATGCGGTCCTTCACGCTCCCGCCCGCGTTGAAGAACTCACACTTGGCCACTGGGAGGCAGAGATGAATCACAGAGGGGACCCCCTGACCACCCCCCCATTGATTCCTGCTCACCCCCCCATTACCTGATACACCCCAGGGTGGGGGACGGGCTTGGGGGTCTGTGGGTTCTGAAAAATTGCCACCTCTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCTGGTGGCCTCCGGCAAGCCACGTGACCAACCTGACCCTCGGTGTGTCTGTCTGTAAAACGGGCATTCCAAAACCTACTTCAAGGGCAACCACCAAGTTTAGACGTCATCCTGTACGGAGCACAGTGAGCCAGCCACGCGTGCTGCGTACGAGTTAAGGGTCCCTATTGTCTGACAAATGAGCACAGAGCCGGCCCTGCTGCCTTGGGGGTCTCTGTGAAGGGGGCTGCTCTGCTGCAGCTCCGAGATCTCCTTCCCTAGAGGGGGGCAGAGGAGGGCCAGGCTCCCACGAGGCCCCTCCTGTGAATCGGCGATCGGTTCCCAACGCACCGACCCCTGACTTCCTTCCCCCAGCGCCTGCCCCAGCTCTCACAGGTCCCCCGGCTGGGACATTAGAGCATCTCAGGATGAAAAAGTCCCAAGCCATGTTACTGGTTCCCTCTCCTTCCC
TAGAGCTCCTGGCTGATCCTCAGAGGCCCCCAGTTGGAACTCCGACCCCCCACTCAGCGCAGGAAGGTTCTCCAAGACACTGGCCGGTGAGCGAGCACCCAGCCCCAGCTCCTTCGGGTCACGAGCTGCTGGTCCCTTATGTGTCAAGCACCCTTGTCTTCCCAAACACCTCCCAGGCAGCGCAGAAATACCGCGGGAGACAGCGTGCTGAGCAGACCGTGAGGAATGACAGCTTTCAGCTCAGAAGCCGGGGCCACTCCGCACTGCCCCTCTCCGGCCCGGCCACACCACTCACCCTGCATCCAGGACACTTCTCCTTCAGCTTCCTGGCAATGCCCGTGATGGTGCCGCCCGTGCCCACTGAAGCCACCAGCATGTCCAGCTTCCCTGGTGGACGGATAACATTCTTGGGTCCCTGCCTGGCCAGCCCATCACTCATAGTAATAATCATTGAAAACACACTCAGCCCAAACCACGGTGGGTAACCAAAAAGTTCAAAAGAAAAACTTCTTCTCCAGTTGGAGCAGCCCTCGTTGCTGCCCTTGGTCTGTGAAAGCCTCAGAAACAGGCAGCCTGGGGCACCCCAGCCCAGTCTTTGCTCAGTGACACTCGACCCCTAAAACCCCCATTTGGCTGGATGCAGAAAGACAGGACCCTGTCCGGGGGGTGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATTCCCAATAGGAAGCCAGGGCGCCAACCTCTTGGCAACTTATCTCTAAAGGGATCTCTTGGGAAAACCTCAGTACCAACCCCCACAGGCCTTGGCACCGAGTCCCTGGAAAAGGGCCCAAGGAGCCGGCCTCATGCTTGTAACAGAGAGTGAGCTCATCGCAGATGTCACCAGCTCTGTTCTGCAGATGAATTTGATGCCGAGTCAGGGCATGATCCCAAATGAAGTCCAAGCTGTGAGCCCAGCACCAGCCTGGGCCCTGAACAGACTCGCTGTCTGCATTATCTGCAGGAGGAGCCCCTGCAGACCTGCAGAGATTGCTGGGTAAACAAATACAGCCATGCCCTGTGTTTGCTATTACAGGTAAACCACAGGCGGAGGCCAAGAGGGCACAACGGAGGGAGGAAATTGTTCTAGAGAAATGCTCTAGAAAAGCATTTCACAGAGGGAACATTTGAGCTGGGTTCTGAAGGGTGAATAGGAGTTCACCAAGGAGAGGGCAAGAGATGTGTACACTCCCAGGCAGCCAGGGATAAATGCAATCAAGATGGACAGAGGGACGCACCATCACACTGCTGCAGGATCTCATCAGCGGTGGTGTCGTAGTGAGCCAGGGGGTTGCTGGCGTTGCGGTACTGCATAGAAAGAGAGCAGAGCCCGTGAGCTGACCCCTGACACCTCAGTCACCCCCACATCCCTGACCGAGACCCTCCTAGGGAATGCCTGTCTCCAGGCCCCAGGTGCCTCACCTGGTCTAGGATGTGAGAATTGGGGATTTCGTTCTTCAGCCGCCAGGCCACCCCCACGTGTGACTCCGGGGAGTCGAACCTGGCATTGGTGGGCGTCCTCACAATCTCAGCCCCCAGTGCCCGCAGCACGTCCACCTGCAGGAGGGAAAGCGGTGGCCTGCACCTTCCGCCTGGCCCAGGCACCCTCATCCCCTGCCCTATGACCCCGCCCCTGGCCACGCCCACCCACCTTCTCGGAGCTCATCTTCTCTGGCATCACGATGATGTAGCGATAGCCCCTCACTGCCGCAGCCAGGGCCAGCCCGATCCCTGAGGGCACACAGAGGGTGAGAGGGGCCCAGTGACCCCCCAAGCCCTGCCCCGCCCCTGCCTGGGACACAGGGGCACACCCCGATGCCGGTTCCCTTAGGGCCCAGGGAAGAGGGTTCTGTGGGATTCCAAAATTGCCCAACATGGCTGCTTCTGCCTTCAAGTGCAGGGGGAGAGAGGCTGCCAGAGGCAGAAATAAAAGGTACACGTCAAGGAGGAGGAGGCAGCGGCGCAGGACAGGAGATCTGGTTCCTCCAGGCCCAGCCGGGTACACAGGCACAGGAAGAGCAGACTCCGGGTGCTCGTCTTGTGTGCCAGGCACTGCCAGGTGCCATCGCCCCGAGAGCATCGGCACTGGCCCCGAATGCTGGTCAAAGGAAGCTAGGTTGGGACACAGGCCGGCAGCGGGTGCAAGATGCCAGGGAGCAGGCGGCCAGGCGGGCCAGCACATGCGGCTGCAGCTCAGCCATCCCCCCCGGGTCCCGGCAGGCTCGGCATGGGTAGGGGACAGCCAGCCCTGGCCACCCCCTCTGGGCCTGGCACCCACCGGTGTTCCCGGATGTCGGCTCGATAATCGTGTCCCCGGGCTTCAGCGTCCCGTCGCGCTCAGCATCCTCAATCATCCGCAGGCTGATGCGGTCCTTCACGCTCCCGCCCGCGTTGAAGAACTCACACTTGGCCACTGGGAGGCAGAGATGAATCACAGAGGGGACCCCCTGACCACCCCCCCATTGATTCCTGCTCACCCCCCCATTACCTGATACACCCCAGGGTGGGGGACGGGCTTGGGGGTCTGTGGGTTCTGAAAAATTGCCACCTCTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCTGGTGGCCTCCGGCAAGCCACGTGACCAACCTGACCCTCGGTGTGTCTGTCTGTAAAACGGGCATTCCAAAACCTACTTCAAGGGCAACCACCAAGTTTAGACGTCATCCTGTACGGAGCACAGTGAGCCAGCCACGCGTGCTGCGTACGAGTTAAGGGTCCCTATTGTCTGACAAATGAGCACAGAGCCGGCCCTGCTGCCTTGGGGGTCTCTGTGAAGGGGGCTGCTCTGCTGCAGCTCCGAGATCTCCTTCCCTAGAGGGGGGCAGAGGAGGGCCAGGCTCCCACGAGGCCCCTCCTGTGAATCGGCGATCGGTTCCCAACGCACCGACCCCTGACTTCCTTCCCCCAGCGCCTGCCCCAGCTCTCACAGGTCCCCCGGCTGGGACATTAGAGCATCTCAGGATGAAAAAGTCCCAAGCCATGTTACTGGTTCCCTCTCCTTCCC
Task1_train_28408
A variant was discovered in gene CBS (cystathionine beta-synthase), Chromosome 21. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Homocystinuria
TAGAGCTCCTGGCTGATCCTCAGAGGCCCCCAGTTGGAACTCCGACCCCCCACTCAGCGCAGGAAGGTTCTCCAAGACACTGGCCGGTGAGCGAGCACCCAGCCCCAGCTCCTTCGGGTCACGAGCTGCTGGTCCCTTATGTGTCAAGCACCCTTGTCTTCCCAAACACCTCCCAGGCAGCGCAGAAATACCGCGGGAGACAGCGTGCTGAGCAGACCGTGAGGAATGACAGCTTTCAGCTCAGAAGCCGGGGCCACTCCGCACTGCCCCTCTCCGGCCCGGCCACACCACTCACCCTGCATCCAGGACACTTCTCCTTCAGCTTCCTGGCAATGCCCGTGATGGTGCCGCCCGTGCCCACTGAAGCCACCAGCATGTCCAGCTTCCCTGGTGGACGGATAACATTCTTGGGTCCCTGCCTGGCCAGCCCATCACTCATAGTAATAATCATTGAAAACACACTCAGCCCAAACCACGGTGGGTAACCAAAAAGTTCAAAAGAAAAACTTCTTCTCCAGTTGGAGCAGCCCTCGTTGCTGCCCTTGGTCTGTGAAAGCCTCAGAAACAGGCAGCCTGGGGCACCCCAGCCCAGTCTTTGCTCAGTGACACTCGACCCCTAAAACCCCCATTTGGCTGGATGCAGAAAGACAGGACCCTGTCCGGGGGGTGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATTCCCAATAGGAAGCCAGGGCGCCAACCTCTTGGCAACTTATCTCTAAAGGGATCTCTTGGGAAAACCTCAGTACCAACCCCCACAGGCCTTGGCACCGAGTCCCTGGAAAAGGGCCCAAGGAGCCGGCCTCATGCTTGTAACAGAGAGTGAGCTCATCGCAGATGTCACCAGCTCTGTTCTGCAGATGAATTTGATGCCGAGTCAGGGCATGATCCCAAATGAAGTCCAAGCTGTGAGCCCAGCACCAGCCTGGGCCCTGAACAGACTCGCTGTCTGCATTATCTGCAGGAGGAGCCCCTGCAGACCTGCAGAGATTGCTGGGTAAACAAATACAGCCATGCCCTGTGTTTGCTATTACAGGTAAACCACAGGCGGAGGCCAAGAGGGCACAACGGAGGGAGGAAATTGTTCTAGAGAAATGCTCTAGAAAAGCATTTCACAGAGGGAACATTTGAGCTGGGTTCTGAAGGGTGAATAGGAGTTCACCAAGGAGAGGGCAAGAGATGTGTACACTCCCAGGCAGCCAGGGATAAATGCAATCAAGATGGACAGAGGGACGCACCATCACACTGCTGCAGGATCTCATCAGCGGTGGTGTCGTAGTGAGCCAGGGGGTTGCTGGCGTTGCGGTACTGCATAGAAAGAGAGCAGAGCCCGTGAGCTGACCCCTGACACCTCAGTCACCCCCACATCCCTGACCGAGACCCTCCTAGGGAATGCCTGTCTCCAGGCCCCAGGTGCCTCACCTGGTCTAGGATGTGAGAATTGGGGATTTCGTTCTTCAGCCGCCAGGCCACCCCCACGTGTGACTCCGGGGAGTCGAACCTGGCATTGGTGGGCGTCCTCACAATCTCAGCCCCCAGTGCCCGCAGCACGTCCACCTGCAGGAGGGAAAGCGGTGGCCTGCACCTTCCGCCTGGCCCAGGCACCCTCATCCCCTGCCCTATGACCCCGCCCCTGGCCACGCCCACCCACCTTCTCGGAGCTCATCTTCTCTGGCATCACGATGATGCAGCGATAGCCCCTCACTGCCGCAGCCAGGGCCAGCCCGATCCCTGAGGGCACACAGAGGGTGAGAGGGGCCCAGTGACCCCCCAAGCCCTGCCCCGCCCCTGCCTGGGACACAGGGGCACACCCCGATGCCGGTTCCCTTAGGGCCCAGGGAAGAGGGTTCTGTGGGATTCCAAAATTGCCCAACATGGCTGCTTCTGCCTTCAAGTGCAGGGGGAGAGAGGCTGCCAGAGGCAGAAATAAAAGGTACACGTCAAGGAGGAGGAGGCAGCGGCGCAGGACAGGAGATCTGGTTCCTCCAGGCCCAGCCGGGTACACAGGCACAGGAAGAGCAGACTCCGGGTGCTCGTCTTGTGTGCCAGGCACTGCCAGGTGCCATCGCCCCGAGAGCATCGGCACTGGCCCCGAATGCTGGTCAAAGGAAGCTAGGTTGGGACACAGGCCGGCAGCGGGTGCAAGATGCCAGGGAGCAGGCGGCCAGGCGGGCCAGCACATGCGGCTGCAGCTCAGCCATCCCCCCCGGGTCCCGGCAGGCTCGGCATGGGTAGGGGACAGCCAGCCCTGGCCACCCCCTCTGGGCCTGGCACCCACCGGTGTTCCCGGATGTCGGCTCGATAATCGTGTCCCCGGGCTTCAGCGTCCCGTCGCGCTCAGCATCCTCAATCATCCGCAGGCTGATGCGGTCCTTCACGCTCCCGCCCGCGTTGAAGAACTCACACTTGGCCACTGGGAGGCAGAGATGAATCACAGAGGGGACCCCCTGACCACCCCCCCATTGATTCCTGCTCACCCCCCCATTACCTGATACACCCCAGGGTGGGGGACGGGCTTGGGGGTCTGTGGGTTCTGAAAAATTGCCACCTCTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCTGGTGGCCTCCGGCAAGCCACGTGACCAACCTGACCCTCGGTGTGTCTGTCTGTAAAACGGGCATTCCAAAACCTACTTCAAGGGCAACCACCAAGTTTAGACGTCATCCTGTACGGAGCACAGTGAGCCAGCCACGCGTGCTGCGTACGAGTTAAGGGTCCCTATTGTCTGACAAATGAGCACAGAGCCGGCCCTGCTGCCTTGGGGGTCTCTGTGAAGGGGGCTGCTCTGCTGCAGCTCCGAGATCTCCTTCCCTAGAGGGGGGCAGAGGAGGGCCAGGCTCCCACGAGGCCCCTCCTGTGAATCGGCGATCGGTTCCCAACGCACCGACCCCTGACTTCCTTCCCCCAGCGCCTGCCCCAGCTCTCACAGGTCCCCCGGCTGGGACATTAGAGCATCTCAGGATGAAAAAGTCCCAAGCCATGTTACTGGTTCCCTCTCCTTCCC
TAGAGCTCCTGGCTGATCCTCAGAGGCCCCCAGTTGGAACTCCGACCCCCCACTCAGCGCAGGAAGGTTCTCCAAGACACTGGCCGGTGAGCGAGCACCCAGCCCCAGCTCCTTCGGGTCACGAGCTGCTGGTCCCTTATGTGTCAAGCACCCTTGTCTTCCCAAACACCTCCCAGGCAGCGCAGAAATACCGCGGGAGACAGCGTGCTGAGCAGACCGTGAGGAATGACAGCTTTCAGCTCAGAAGCCGGGGCCACTCCGCACTGCCCCTCTCCGGCCCGGCCACACCACTCACCCTGCATCCAGGACACTTCTCCTTCAGCTTCCTGGCAATGCCCGTGATGGTGCCGCCCGTGCCCACTGAAGCCACCAGCATGTCCAGCTTCCCTGGTGGACGGATAACATTCTTGGGTCCCTGCCTGGCCAGCCCATCACTCATAGTAATAATCATTGAAAACACACTCAGCCCAAACCACGGTGGGTAACCAAAAAGTTCAAAAGAAAAACTTCTTCTCCAGTTGGAGCAGCCCTCGTTGCTGCCCTTGGTCTGTGAAAGCCTCAGAAACAGGCAGCCTGGGGCACCCCAGCCCAGTCTTTGCTCAGTGACACTCGACCCCTAAAACCCCCATTTGGCTGGATGCAGAAAGACAGGACCCTGTCCGGGGGGTGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATTCCCAATAGGAAGCCAGGGCGCCAACCTCTTGGCAACTTATCTCTAAAGGGATCTCTTGGGAAAACCTCAGTACCAACCCCCACAGGCCTTGGCACCGAGTCCCTGGAAAAGGGCCCAAGGAGCCGGCCTCATGCTTGTAACAGAGAGTGAGCTCATCGCAGATGTCACCAGCTCTGTTCTGCAGATGAATTTGATGCCGAGTCAGGGCATGATCCCAAATGAAGTCCAAGCTGTGAGCCCAGCACCAGCCTGGGCCCTGAACAGACTCGCTGTCTGCATTATCTGCAGGAGGAGCCCCTGCAGACCTGCAGAGATTGCTGGGTAAACAAATACAGCCATGCCCTGTGTTTGCTATTACAGGTAAACCACAGGCGGAGGCCAAGAGGGCACAACGGAGGGAGGAAATTGTTCTAGAGAAATGCTCTAGAAAAGCATTTCACAGAGGGAACATTTGAGCTGGGTTCTGAAGGGTGAATAGGAGTTCACCAAGGAGAGGGCAAGAGATGTGTACACTCCCAGGCAGCCAGGGATAAATGCAATCAAGATGGACAGAGGGACGCACCATCACACTGCTGCAGGATCTCATCAGCGGTGGTGTCGTAGTGAGCCAGGGGGTTGCTGGCGTTGCGGTACTGCATAGAAAGAGAGCAGAGCCCGTGAGCTGACCCCTGACACCTCAGTCACCCCCACATCCCTGACCGAGACCCTCCTAGGGAATGCCTGTCTCCAGGCCCCAGGTGCCTCACCTGGTCTAGGATGTGAGAATTGGGGATTTCGTTCTTCAGCCGCCAGGCCACCCCCACGTGTGACTCCGGGGAGTCGAACCTGGCATTGGTGGGCGTCCTCACAATCTCAGCCCCCAGTGCCCGCAGCACGTCCACCTGCAGGAGGGAAAGCGGTGGCCTGCACCTTCCGCCTGGCCCAGGCACCCTCATCCCCTGCCCTATGACCCCGCCCCTGGCCACGCCCACCCACCTTCTCGGAGCTCATCTTCTCTGGCATCACGATGATGTAGCGATAGCCCCTCACTGCCGCAGCCAGGGCCAGCCCGATCCCTGAGGGCACACAGAGGGTGAGAGGGGCCCAGTGACCCCCCAAGCCCTGCCCCGCCCCTGCCTGGGACACAGGGGCACACCCCGATGCCGGTTCCCTTAGGGCCCAGGGAAGAGGGTTCTGTGGGATTCCAAAATTGCCCAACATGGCTGCTTCTGCCTTCAAGTGCAGGGGGAGAGAGGCTGCCAGAGGCAGAAATAAAAGGTACACGTCAAGGAGGAGGAGGCAGCGGCGCAGGACAGGAGATCTGGTTCCTCCAGGCCCAGCCGGGTACACAGGCACAGGAAGAGCAGACTCCGGGTGCTCGTCTTGTGTGCCAGGCACTGCCAGGTGCCATCGCCCCGAGAGCATCGGCACTGGCCCCGAATGCTGGTCAAAGGAAGCTAGGTTGGGACACAGGCCGGCAGCGGGTGCAAGATGCCAGGGAGCAGGCGGCCAGGCGGGCCAGCACATGCGGCTGCAGCTCAGCCATCCCCCCCGGGTCCCGGCAGGCTCGGCATGGGTAGGGGACAGCCAGCCCTGGCCACCCCCTCTGGGCCTGGCACCCACCGGTGTTCCCGGATGTCGGCTCGATAATCGTGTCCCCGGGCTTCAGCGTCCCGTCGCGCTCAGCATCCTCAATCATCCGCAGGCTGATGCGGTCCTTCACGCTCCCGCCCGCGTTGAAGAACTCACACTTGGCCACTGGGAGGCAGAGATGAATCACAGAGGGGACCCCCTGACCACCCCCCCATTGATTCCTGCTCACCCCCCCATTACCTGATACACCCCAGGGTGGGGGACGGGCTTGGGGGTCTGTGGGTTCTGAAAAATTGCCACCTCTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCTGGTGGCCTCCGGCAAGCCACGTGACCAACCTGACCCTCGGTGTGTCTGTCTGTAAAACGGGCATTCCAAAACCTACTTCAAGGGCAACCACCAAGTTTAGACGTCATCCTGTACGGAGCACAGTGAGCCAGCCACGCGTGCTGCGTACGAGTTAAGGGTCCCTATTGTCTGACAAATGAGCACAGAGCCGGCCCTGCTGCCTTGGGGGTCTCTGTGAAGGGGGCTGCTCTGCTGCAGCTCCGAGATCTCCTTCCCTAGAGGGGGGCAGAGGAGGGCCAGGCTCCCACGAGGCCCCTCCTGTGAATCGGCGATCGGTTCCCAACGCACCGACCCCTGACTTCCTTCCCCCAGCGCCTGCCCCAGCTCTCACAGGTCCCCCGGCTGGGACATTAGAGCATCTCAGGATGAAAAAGTCCCAAGCCATGTTACTGGTTCCCTCTCCTTCCC
Task1_train_28409
The gene CBS (cystathionine beta-synthase) is located on Chromosome 21, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
TAGAGCTCCTGGCTGATCCTCAGAGGCCCCCAGTTGGAACTCCGACCCCCCACTCAGCGCAGGAAGGTTCTCCAAGACACTGGCCGGTGAGCGAGCACCCAGCCCCAGCTCCTTCGGGTCACGAGCTGCTGGTCCCTTATGTGTCAAGCACCCTTGTCTTCCCAAACACCTCCCAGGCAGCGCAGAAATACCGCGGGAGACAGCGTGCTGAGCAGACCGTGAGGAATGACAGCTTTCAGCTCAGAAGCCGGGGCCACTCCGCACTGCCCCTCTCCGGCCCGGCCACACCACTCACCCTGCATCCAGGACACTTCTCCTTCAGCTTCCTGGCAATGCCCGTGATGGTGCCGCCCGTGCCCACTGAAGCCACCAGCATGTCCAGCTTCCCTGGTGGACGGATAACATTCTTGGGTCCCTGCCTGGCCAGCCCATCACTCATAGTAATAATCATTGAAAACACACTCAGCCCAAACCACGGTGGGTAACCAAAAAGTTCAAAAGAAAAACTTCTTCTCCAGTTGGAGCAGCCCTCGTTGCTGCCCTTGGTCTGTGAAAGCCTCAGAAACAGGCAGCCTGGGGCACCCCAGCCCAGTCTTTGCTCAGTGACACTCGACCCCTAAAACCCCCATTTGGCTGGATGCAGAAAGACAGGACCCTGTCCGGGGGGTGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATTCCCAATAGGAAGCCAGGGCGCCAACCTCTTGGCAACTTATCTCTAAAGGGATCTCTTGGGAAAACCTCAGTACCAACCCCCACAGGCCTTGGCACCGAGTCCCTGGAAAAGGGCCCAAGGAGCCGGCCTCATGCTTGTAACAGAGAGTGAGCTCATCGCAGATGTCACCAGCTCTGTTCTGCAGATGAATTTGATGCCGAGTCAGGGCATGATCCCAAATGAAGTCCAAGCTGTGAGCCCAGCACCAGCCTGGGCCCTGAACAGACTCGCTGTCTGCATTATCTGCAGGAGGAGCCCCTGCAGACCTGCAGAGATTGCTGGGTAAACAAATACAGCCATGCCCTGTGTTTGCTATTACAGGTAAACCACAGGCGGAGGCCAAGAGGGCACAACGGAGGGAGGAAATTGTTCTAGAGAAATGCTCTAGAAAAGCATTTCACAGAGGGAACATTTGAGCTGGGTTCTGAAGGGTGAATAGGAGTTCACCAAGGAGAGGGCAAGAGATGTGTACACTCCCAGGCAGCCAGGGATAAATGCAATCAAGATGGACAGAGGGACGCACCATCACACTGCTGCAGGATCTCATCAGCGGTGGTGTCGTAGTGAGCCAGGGGGTTGCTGGCGTTGCGGTACTGCATAGAAAGAGAGCAGAGCCCGTGAGCTGACCCCTGACACCTCAGTCACCCCCACATCCCTGACCGAGACCCTCCTAGGGAATGCCTGTCTCCAGGCCCCAGGTGCCTCACCTGGTCTAGGATGTGAGAATTGGGGATTTCGTTCTTCAGCCGCCAGGCCACCCCCACGTGTGACTCCGGGGAGTCGAACCTGGCATTGGTGGGCGTCCTCACAATCTCAGCCCCCAGTGCCCGCAGCACGTCCACCTGCAGGAGGGAAAGCGGTGGCCTGCACCTTCCGCCTGGCCCAGGCACCCTCATCCCCTGCCCTATGACCCCGCCCCTGGCCACGCCCACCCACCTTCTCGGAGCTCATCTTCTCTGGCATCACGATGATGCAGCGATAGCCCCTCACTGCCGCAGCCAGGGCCAGCCCGATCCCTGAGGGCACACAGAGGGTGAGAGGGGCCCAGTGACCCCCCAAGCCCTGCCCCGCCCCTGCCTGGGACACAGGGGCACACCCCGATGCCGGTTCCCTTAGGGCCCAGGGAAGAGGGTTCTGTGGGATTCCAAAATTGCCCAACATGGCTGCTTCTGCCTTCAAGTGCAGGGGGAGAGAGGCTGCCAGAGGCAGAAATAAAAGGTACACGTCAAGGAGGAGGAGGCAGCGGCGCAGGACAGGAGATCTGGTTCCTCCAGGCCCAGCCGGGTACACAGGCACAGGAAGAGCAGACTCCGGGTGCTCGTCTTGTGTGCCAGGCACTGCCAGGTGCCATCGCCCCGAGAGCATCGGCACTGGCCCCGAATGCTGGTCAAAGGAAGCTAGGTTGGGACACAGGCCGGCAGCGGGTGCAAGATGCCAGGGAGCAGGCGGCCAGGCGGGCCAGCACATGCGGCTGCAGCTCAGCCATCCCCCCCGGGTCCCGGCAGGCTCGGCATGGGTAGGGGACAGCCAGCCCTGGCCACCCCCTCTGGGCCTGGCACCCACCGGTGTTCCCGGATGTCGGCTCGATAATCGTGTCCCCGGGCTTCAGCGTCCCGTCGCGCTCAGCATCCTCAATCATCCGCAGGCTGATGCGGTCCTTCACGCTCCCGCCCGCGTTGAAGAACTCACACTTGGCCACTGGGAGGCAGAGATGAATCACAGAGGGGACCCCCTGACCACCCCCCCATTGATTCCTGCTCACCCCCCCATTACCTGATACACCCCAGGGTGGGGGACGGGCTTGGGGGTCTGTGGGTTCTGAAAAATTGCCACCTCTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCTGGTGGCCTCCGGCAAGCCACGTGACCAACCTGACCCTCGGTGTGTCTGTCTGTAAAACGGGCATTCCAAAACCTACTTCAAGGGCAACCACCAAGTTTAGACGTCATCCTGTACGGAGCACAGTGAGCCAGCCACGCGTGCTGCGTACGAGTTAAGGGTCCCTATTGTCTGACAAATGAGCACAGAGCCGGCCCTGCTGCCTTGGGGGTCTCTGTGAAGGGGGCTGCTCTGCTGCAGCTCCGAGATCTCCTTCCCTAGAGGGGGGCAGAGGAGGGCCAGGCTCCCACGAGGCCCCTCCTGTGAATCGGCGATCGGTTCCCAACGCACCGACCCCTGACTTCCTTCCCCCAGCGCCTGCCCCAGCTCTCACAGGTCCCCCGGCTGGGACATTAGAGCATCTCAGGATGAAAAAGTCCCAAGCCATGTTACTGGTTCCCTCTCCTTCCC
TAGAGCTCCTGGCTGATCCTCAGAGGCCCCCAGTTGGAACTCCGACCCCCCACTCAGCGCAGGAAGGTTCTCCAAGACACTGGCCGGTGAGCGAGCACCCAGCCCCAGCTCCTTCGGGTCACGAGCTGCTGGTCCCTTATGTGTCAAGCACCCTTGTCTTCCCAAACACCTCCCAGGCAGCGCAGAAATACCGCGGGAGACAGCGTGCTGAGCAGACCGTGAGGAATGACAGCTTTCAGCTCAGAAGCCGGGGCCACTCCGCACTGCCCCTCTCCGGCCCGGCCACACCACTCACCCTGCATCCAGGACACTTCTCCTTCAGCTTCCTGGCAATGCCCGTGATGGTGCCGCCCGTGCCCACTGAAGCCACCAGCATGTCCAGCTTCCCTGGTGGACGGATAACATTCTTGGGTCCCTGCCTGGCCAGCCCATCACTCATAGTAATAATCATTGAAAACACACTCAGCCCAAACCACGGTGGGTAACCAAAAAGTTCAAAAGAAAAACTTCTTCTCCAGTTGGAGCAGCCCTCGTTGCTGCCCTTGGTCTGTGAAAGCCTCAGAAACAGGCAGCCTGGGGCACCCCAGCCCAGTCTTTGCTCAGTGACACTCGACCCCTAAAACCCCCATTTGGCTGGATGCAGAAAGACAGGACCCTGTCCGGGGGGTGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATTCCCAATAGGAAGCCAGGGCGCCAACCTCTTGGCAACTTATCTCTAAAGGGATCTCTTGGGAAAACCTCAGTACCAACCCCCACAGGCCTTGGCACCGAGTCCCTGGAAAAGGGCCCAAGGAGCCGGCCTCATGCTTGTAACAGAGAGTGAGCTCATCGCAGATGTCACCAGCTCTGTTCTGCAGATGAATTTGATGCCGAGTCAGGGCATGATCCCAAATGAAGTCCAAGCTGTGAGCCCAGCACCAGCCTGGGCCCTGAACAGACTCGCTGTCTGCATTATCTGCAGGAGGAGCCCCTGCAGACCTGCAGAGATTGCTGGGTAAACAAATACAGCCATGCCCTGTGTTTGCTATTACAGGTAAACCACAGGCGGAGGCCAAGAGGGCACAACGGAGGGAGGAAATTGTTCTAGAGAAATGCTCTAGAAAAGCATTTCACAGAGGGAACATTTGAGCTGGGTTCTGAAGGGTGAATAGGAGTTCACCAAGGAGAGGGCAAGAGATGTGTACACTCCCAGGCAGCCAGGGATAAATGCAATCAAGATGGACAGAGGGACGCACCATCACACTGCTGCAGGATCTCATCAGCGGTGGTGTCGTAGTGAGCCAGGGGGTTGCTGGCGTTGCGGTACTGCATAGAAAGAGAGCAGAGCCCGTGAGCTGACCCCTGACACCTCAGTCACCCCCACATCCCTGACCGAGACCCTCCTAGGGAATGCCTGTCTCCAGGCCCCAGGTGCCTCACCTGGTCTAGGATGTGAGAATTGGGGATTTCGTTCTTCAGCCGCCAGGCCACCCCCACGTGTGACTCCGGGGAGTCGAACCTGGCATTGGTGGGCGTCCTCACAATCTCAGCCCCCAGTGCCCGCAGCACGTCCACCTGCAGGAGGGAAAGCGGTGGCCTGCACCTTCCGCCTGGCCCAGGCACCCTCATCCCCTGCCCTATGACCCCGCCCCTGGCCACGCCCACCCACCTTCTCGGAGCTCATCTTCTCTGGCATCACGATGATGTAGCGATAGCCCCTCACTGCCGCAGCCAGGGCCAGCCCGATCCCTGAGGGCACACAGAGGGTGAGAGGGGCCCAGTGACCCCCCAAGCCCTGCCCCGCCCCTGCCTGGGACACAGGGGCACACCCCGATGCCGGTTCCCTTAGGGCCCAGGGAAGAGGGTTCTGTGGGATTCCAAAATTGCCCAACATGGCTGCTTCTGCCTTCAAGTGCAGGGGGAGAGAGGCTGCCAGAGGCAGAAATAAAAGGTACACGTCAAGGAGGAGGAGGCAGCGGCGCAGGACAGGAGATCTGGTTCCTCCAGGCCCAGCCGGGTACACAGGCACAGGAAGAGCAGACTCCGGGTGCTCGTCTTGTGTGCCAGGCACTGCCAGGTGCCATCGCCCCGAGAGCATCGGCACTGGCCCCGAATGCTGGTCAAAGGAAGCTAGGTTGGGACACAGGCCGGCAGCGGGTGCAAGATGCCAGGGAGCAGGCGGCCAGGCGGGCCAGCACATGCGGCTGCAGCTCAGCCATCCCCCCCGGGTCCCGGCAGGCTCGGCATGGGTAGGGGACAGCCAGCCCTGGCCACCCCCTCTGGGCCTGGCACCCACCGGTGTTCCCGGATGTCGGCTCGATAATCGTGTCCCCGGGCTTCAGCGTCCCGTCGCGCTCAGCATCCTCAATCATCCGCAGGCTGATGCGGTCCTTCACGCTCCCGCCCGCGTTGAAGAACTCACACTTGGCCACTGGGAGGCAGAGATGAATCACAGAGGGGACCCCCTGACCACCCCCCCATTGATTCCTGCTCACCCCCCCATTACCTGATACACCCCAGGGTGGGGGACGGGCTTGGGGGTCTGTGGGTTCTGAAAAATTGCCACCTCTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCTGGTGGCCTCCGGCAAGCCACGTGACCAACCTGACCCTCGGTGTGTCTGTCTGTAAAACGGGCATTCCAAAACCTACTTCAAGGGCAACCACCAAGTTTAGACGTCATCCTGTACGGAGCACAGTGAGCCAGCCACGCGTGCTGCGTACGAGTTAAGGGTCCCTATTGTCTGACAAATGAGCACAGAGCCGGCCCTGCTGCCTTGGGGGTCTCTGTGAAGGGGGCTGCTCTGCTGCAGCTCCGAGATCTCCTTCCCTAGAGGGGGGCAGAGGAGGGCCAGGCTCCCACGAGGCCCCTCCTGTGAATCGGCGATCGGTTCCCAACGCACCGACCCCTGACTTCCTTCCCCCAGCGCCTGCCCCAGCTCTCACAGGTCCCCCGGCTGGGACATTAGAGCATCTCAGGATGAAAAAGTCCCAAGCCATGTTACTGGTTCCCTCTCCTTCCC
Task1_train_28410
A mutation on Chromosome 21 affecting CBS (cystathionine beta-synthase) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; See cases
TAGAGCTCCTGGCTGATCCTCAGAGGCCCCCAGTTGGAACTCCGACCCCCCACTCAGCGCAGGAAGGTTCTCCAAGACACTGGCCGGTGAGCGAGCACCCAGCCCCAGCTCCTTCGGGTCACGAGCTGCTGGTCCCTTATGTGTCAAGCACCCTTGTCTTCCCAAACACCTCCCAGGCAGCGCAGAAATACCGCGGGAGACAGCGTGCTGAGCAGACCGTGAGGAATGACAGCTTTCAGCTCAGAAGCCGGGGCCACTCCGCACTGCCCCTCTCCGGCCCGGCCACACCACTCACCCTGCATCCAGGACACTTCTCCTTCAGCTTCCTGGCAATGCCCGTGATGGTGCCGCCCGTGCCCACTGAAGCCACCAGCATGTCCAGCTTCCCTGGTGGACGGATAACATTCTTGGGTCCCTGCCTGGCCAGCCCATCACTCATAGTAATAATCATTGAAAACACACTCAGCCCAAACCACGGTGGGTAACCAAAAAGTTCAAAAGAAAAACTTCTTCTCCAGTTGGAGCAGCCCTCGTTGCTGCCCTTGGTCTGTGAAAGCCTCAGAAACAGGCAGCCTGGGGCACCCCAGCCCAGTCTTTGCTCAGTGACACTCGACCCCTAAAACCCCCATTTGGCTGGATGCAGAAAGACAGGACCCTGTCCGGGGGGTGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATTCCCAATAGGAAGCCAGGGCGCCAACCTCTTGGCAACTTATCTCTAAAGGGATCTCTTGGGAAAACCTCAGTACCAACCCCCACAGGCCTTGGCACCGAGTCCCTGGAAAAGGGCCCAAGGAGCCGGCCTCATGCTTGTAACAGAGAGTGAGCTCATCGCAGATGTCACCAGCTCTGTTCTGCAGATGAATTTGATGCCGAGTCAGGGCATGATCCCAAATGAAGTCCAAGCTGTGAGCCCAGCACCAGCCTGGGCCCTGAACAGACTCGCTGTCTGCATTATCTGCAGGAGGAGCCCCTGCAGACCTGCAGAGATTGCTGGGTAAACAAATACAGCCATGCCCTGTGTTTGCTATTACAGGTAAACCACAGGCGGAGGCCAAGAGGGCACAACGGAGGGAGGAAATTGTTCTAGAGAAATGCTCTAGAAAAGCATTTCACAGAGGGAACATTTGAGCTGGGTTCTGAAGGGTGAATAGGAGTTCACCAAGGAGAGGGCAAGAGATGTGTACACTCCCAGGCAGCCAGGGATAAATGCAATCAAGATGGACAGAGGGACGCACCATCACACTGCTGCAGGATCTCATCAGCGGTGGTGTCGTAGTGAGCCAGGGGGTTGCTGGCGTTGCGGTACTGCATAGAAAGAGAGCAGAGCCCGTGAGCTGACCCCTGACACCTCAGTCACCCCCACATCCCTGACCGAGACCCTCCTAGGGAATGCCTGTCTCCAGGCCCCAGGTGCCTCACCTGGTCTAGGATGTGAGAATTGGGGATTTCGTTCTTCAGCCGCCAGGCCACCCCCACGTGTGACTCCGGGGAGTCGAACCTGGCATTGGTGGGCGTCCTCACAATCTCAGCCCCCAGTGCCCGCAGCACGTCCACCTGCAGGAGGGAAAGCGGTGGCCTGCACCTTCCGCCTGGCCCAGGCACCCTCATCCCCTGCCCTATGACCCCGCCCCTGGCCACGCCCACCCACCTTCTCGGAGCTCATCTTCTCTGGCATCACGATGATGCAGCGATAGCCCCTCACTGCCGCAGCCAGGGCCAGCCCGATCCCTGAGGGCACACAGAGGGTGAGAGGGGCCCAGTGACCCCCCAAGCCCTGCCCCGCCCCTGCCTGGGACACAGGGGCACACCCCGATGCCGGTTCCCTTAGGGCCCAGGGAAGAGGGTTCTGTGGGATTCCAAAATTGCCCAACATGGCTGCTTCTGCCTTCAAGTGCAGGGGGAGAGAGGCTGCCAGAGGCAGAAATAAAAGGTACACGTCAAGGAGGAGGAGGCAGCGGCGCAGGACAGGAGATCTGGTTCCTCCAGGCCCAGCCGGGTACACAGGCACAGGAAGAGCAGACTCCGGGTGCTCGTCTTGTGTGCCAGGCACTGCCAGGTGCCATCGCCCCGAGAGCATCGGCACTGGCCCCGAATGCTGGTCAAAGGAAGCTAGGTTGGGACACAGGCCGGCAGCGGGTGCAAGATGCCAGGGAGCAGGCGGCCAGGCGGGCCAGCACATGCGGCTGCAGCTCAGCCATCCCCCCCGGGTCCCGGCAGGCTCGGCATGGGTAGGGGACAGCCAGCCCTGGCCACCCCCTCTGGGCCTGGCACCCACCGGTGTTCCCGGATGTCGGCTCGATAATCGTGTCCCCGGGCTTCAGCGTCCCGTCGCGCTCAGCATCCTCAATCATCCGCAGGCTGATGCGGTCCTTCACGCTCCCGCCCGCGTTGAAGAACTCACACTTGGCCACTGGGAGGCAGAGATGAATCACAGAGGGGACCCCCTGACCACCCCCCCATTGATTCCTGCTCACCCCCCCATTACCTGATACACCCCAGGGTGGGGGACGGGCTTGGGGGTCTGTGGGTTCTGAAAAATTGCCACCTCTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCTGGTGGCCTCCGGCAAGCCACGTGACCAACCTGACCCTCGGTGTGTCTGTCTGTAAAACGGGCATTCCAAAACCTACTTCAAGGGCAACCACCAAGTTTAGACGTCATCCTGTACGGAGCACAGTGAGCCAGCCACGCGTGCTGCGTACGAGTTAAGGGTCCCTATTGTCTGACAAATGAGCACAGAGCCGGCCCTGCTGCCTTGGGGGTCTCTGTGAAGGGGGCTGCTCTGCTGCAGCTCCGAGATCTCCTTCCCTAGAGGGGGGCAGAGGAGGGCCAGGCTCCCACGAGGCCCCTCCTGTGAATCGGCGATCGGTTCCCAACGCACCGACCCCTGACTTCCTTCCCCCAGCGCCTGCCCCAGCTCTCACAGGTCCCCCGGCTGGGACATTAGAGCATCTCAGGATGAAAAAGTCCCAAGCCATGTTACTGGTTCCCTCTCCTTCCC
TAGAGCTCCTGGCTGATCCTCAGAGGCCCCCAGTTGGAACTCCGACCCCCCACTCAGCGCAGGAAGGTTCTCCAAGACACTGGCCGGTGAGCGAGCACCCAGCCCCAGCTCCTTCGGGTCACGAGCTGCTGGTCCCTTATGTGTCAAGCACCCTTGTCTTCCCAAACACCTCCCAGGCAGCGCAGAAATACCGCGGGAGACAGCGTGCTGAGCAGACCGTGAGGAATGACAGCTTTCAGCTCAGAAGCCGGGGCCACTCCGCACTGCCCCTCTCCGGCCCGGCCACACCACTCACCCTGCATCCAGGACACTTCTCCTTCAGCTTCCTGGCAATGCCCGTGATGGTGCCGCCCGTGCCCACTGAAGCCACCAGCATGTCCAGCTTCCCTGGTGGACGGATAACATTCTTGGGTCCCTGCCTGGCCAGCCCATCACTCATAGTAATAATCATTGAAAACACACTCAGCCCAAACCACGGTGGGTAACCAAAAAGTTCAAAAGAAAAACTTCTTCTCCAGTTGGAGCAGCCCTCGTTGCTGCCCTTGGTCTGTGAAAGCCTCAGAAACAGGCAGCCTGGGGCACCCCAGCCCAGTCTTTGCTCAGTGACACTCGACCCCTAAAACCCCCATTTGGCTGGATGCAGAAAGACAGGACCCTGTCCGGGGGGTGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATTCCCAATAGGAAGCCAGGGCGCCAACCTCTTGGCAACTTATCTCTAAAGGGATCTCTTGGGAAAACCTCAGTACCAACCCCCACAGGCCTTGGCACCGAGTCCCTGGAAAAGGGCCCAAGGAGCCGGCCTCATGCTTGTAACAGAGAGTGAGCTCATCGCAGATGTCACCAGCTCTGTTCTGCAGATGAATTTGATGCCGAGTCAGGGCATGATCCCAAATGAAGTCCAAGCTGTGAGCCCAGCACCAGCCTGGGCCCTGAACAGACTCGCTGTCTGCATTATCTGCAGGAGGAGCCCCTGCAGACCTGCAGAGATTGCTGGGTAAACAAATACAGCCATGCCCTGTGTTTGCTATTACAGGTAAACCACAGGCGGAGGCCAAGAGGGCACAACGGAGGGAGGAAATTGTTCTAGAGAAATGCTCTAGAAAAGCATTTCACAGAGGGAACATTTGAGCTGGGTTCTGAAGGGTGAATAGGAGTTCACCAAGGAGAGGGCAAGAGATGTGTACACTCCCAGGCAGCCAGGGATAAATGCAATCAAGATGGACAGAGGGACGCACCATCACACTGCTGCAGGATCTCATCAGCGGTGGTGTCGTAGTGAGCCAGGGGGTTGCTGGCGTTGCGGTACTGCATAGAAAGAGAGCAGAGCCCGTGAGCTGACCCCTGACACCTCAGTCACCCCCACATCCCTGACCGAGACCCTCCTAGGGAATGCCTGTCTCCAGGCCCCAGGTGCCTCACCTGGTCTAGGATGTGAGAATTGGGGATTTCGTTCTTCAGCCGCCAGGCCACCCCCACGTGTGACTCCGGGGAGTCGAACCTGGCATTGGTGGGCGTCCTCACAATCTCAGCCCCCAGTGCCCGCAGCACGTCCACCTGCAGGAGGGAAAGCGGTGGCCTGCACCTTCCGCCTGGCCCAGGCACCCTCATCCCCTGCCCTATGACCCCGCCCCTGGCCACGCCCACCCACCTTCTCGGAGCTCATCTTCTCTGGCATCACGATGATGTAGCGATAGCCCCTCACTGCCGCAGCCAGGGCCAGCCCGATCCCTGAGGGCACACAGAGGGTGAGAGGGGCCCAGTGACCCCCCAAGCCCTGCCCCGCCCCTGCCTGGGACACAGGGGCACACCCCGATGCCGGTTCCCTTAGGGCCCAGGGAAGAGGGTTCTGTGGGATTCCAAAATTGCCCAACATGGCTGCTTCTGCCTTCAAGTGCAGGGGGAGAGAGGCTGCCAGAGGCAGAAATAAAAGGTACACGTCAAGGAGGAGGAGGCAGCGGCGCAGGACAGGAGATCTGGTTCCTCCAGGCCCAGCCGGGTACACAGGCACAGGAAGAGCAGACTCCGGGTGCTCGTCTTGTGTGCCAGGCACTGCCAGGTGCCATCGCCCCGAGAGCATCGGCACTGGCCCCGAATGCTGGTCAAAGGAAGCTAGGTTGGGACACAGGCCGGCAGCGGGTGCAAGATGCCAGGGAGCAGGCGGCCAGGCGGGCCAGCACATGCGGCTGCAGCTCAGCCATCCCCCCCGGGTCCCGGCAGGCTCGGCATGGGTAGGGGACAGCCAGCCCTGGCCACCCCCTCTGGGCCTGGCACCCACCGGTGTTCCCGGATGTCGGCTCGATAATCGTGTCCCCGGGCTTCAGCGTCCCGTCGCGCTCAGCATCCTCAATCATCCGCAGGCTGATGCGGTCCTTCACGCTCCCGCCCGCGTTGAAGAACTCACACTTGGCCACTGGGAGGCAGAGATGAATCACAGAGGGGACCCCCTGACCACCCCCCCATTGATTCCTGCTCACCCCCCCATTACCTGATACACCCCAGGGTGGGGGACGGGCTTGGGGGTCTGTGGGTTCTGAAAAATTGCCACCTCTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCTGGTGGCCTCCGGCAAGCCACGTGACCAACCTGACCCTCGGTGTGTCTGTCTGTAAAACGGGCATTCCAAAACCTACTTCAAGGGCAACCACCAAGTTTAGACGTCATCCTGTACGGAGCACAGTGAGCCAGCCACGCGTGCTGCGTACGAGTTAAGGGTCCCTATTGTCTGACAAATGAGCACAGAGCCGGCCCTGCTGCCTTGGGGGTCTCTGTGAAGGGGGCTGCTCTGCTGCAGCTCCGAGATCTCCTTCCCTAGAGGGGGGCAGAGGAGGGCCAGGCTCCCACGAGGCCCCTCCTGTGAATCGGCGATCGGTTCCCAACGCACCGACCCCTGACTTCCTTCCCCCAGCGCCTGCCCCAGCTCTCACAGGTCCCCCGGCTGGGACATTAGAGCATCTCAGGATGAAAAAGTCCCAAGCCATGTTACTGGTTCCCTCTCCTTCCC
Task1_train_28411
A mutation in CBS (cystathionine beta-synthase), located on Chromosome 21, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
AGAGCTCCTGGCTGATCCTCAGAGGCCCCCAGTTGGAACTCCGACCCCCCACTCAGCGCAGGAAGGTTCTCCAAGACACTGGCCGGTGAGCGAGCACCCAGCCCCAGCTCCTTCGGGTCACGAGCTGCTGGTCCCTTATGTGTCAAGCACCCTTGTCTTCCCAAACACCTCCCAGGCAGCGCAGAAATACCGCGGGAGACAGCGTGCTGAGCAGACCGTGAGGAATGACAGCTTTCAGCTCAGAAGCCGGGGCCACTCCGCACTGCCCCTCTCCGGCCCGGCCACACCACTCACCCTGCATCCAGGACACTTCTCCTTCAGCTTCCTGGCAATGCCCGTGATGGTGCCGCCCGTGCCCACTGAAGCCACCAGCATGTCCAGCTTCCCTGGTGGACGGATAACATTCTTGGGTCCCTGCCTGGCCAGCCCATCACTCATAGTAATAATCATTGAAAACACACTCAGCCCAAACCACGGTGGGTAACCAAAAAGTTCAAAAGAAAAACTTCTTCTCCAGTTGGAGCAGCCCTCGTTGCTGCCCTTGGTCTGTGAAAGCCTCAGAAACAGGCAGCCTGGGGCACCCCAGCCCAGTCTTTGCTCAGTGACACTCGACCCCTAAAACCCCCATTTGGCTGGATGCAGAAAGACAGGACCCTGTCCGGGGGGTGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATTCCCAATAGGAAGCCAGGGCGCCAACCTCTTGGCAACTTATCTCTAAAGGGATCTCTTGGGAAAACCTCAGTACCAACCCCCACAGGCCTTGGCACCGAGTCCCTGGAAAAGGGCCCAAGGAGCCGGCCTCATGCTTGTAACAGAGAGTGAGCTCATCGCAGATGTCACCAGCTCTGTTCTGCAGATGAATTTGATGCCGAGTCAGGGCATGATCCCAAATGAAGTCCAAGCTGTGAGCCCAGCACCAGCCTGGGCCCTGAACAGACTCGCTGTCTGCATTATCTGCAGGAGGAGCCCCTGCAGACCTGCAGAGATTGCTGGGTAAACAAATACAGCCATGCCCTGTGTTTGCTATTACAGGTAAACCACAGGCGGAGGCCAAGAGGGCACAACGGAGGGAGGAAATTGTTCTAGAGAAATGCTCTAGAAAAGCATTTCACAGAGGGAACATTTGAGCTGGGTTCTGAAGGGTGAATAGGAGTTCACCAAGGAGAGGGCAAGAGATGTGTACACTCCCAGGCAGCCAGGGATAAATGCAATCAAGATGGACAGAGGGACGCACCATCACACTGCTGCAGGATCTCATCAGCGGTGGTGTCGTAGTGAGCCAGGGGGTTGCTGGCGTTGCGGTACTGCATAGAAAGAGAGCAGAGCCCGTGAGCTGACCCCTGACACCTCAGTCACCCCCACATCCCTGACCGAGACCCTCCTAGGGAATGCCTGTCTCCAGGCCCCAGGTGCCTCACCTGGTCTAGGATGTGAGAATTGGGGATTTCGTTCTTCAGCCGCCAGGCCACCCCCACGTGTGACTCCGGGGAGTCGAACCTGGCATTGGTGGGCGTCCTCACAATCTCAGCCCCCAGTGCCCGCAGCACGTCCACCTGCAGGAGGGAAAGCGGTGGCCTGCACCTTCCGCCTGGCCCAGGCACCCTCATCCCCTGCCCTATGACCCCGCCCCTGGCCACGCCCACCCACCTTCTCGGAGCTCATCTTCTCTGGCATCACGATGATGCAGCGATAGCCCCTCACTGCCGCAGCCAGGGCCAGCCCGATCCCTGAGGGCACACAGAGGGTGAGAGGGGCCCAGTGACCCCCCAAGCCCTGCCCCGCCCCTGCCTGGGACACAGGGGCACACCCCGATGCCGGTTCCCTTAGGGCCCAGGGAAGAGGGTTCTGTGGGATTCCAAAATTGCCCAACATGGCTGCTTCTGCCTTCAAGTGCAGGGGGAGAGAGGCTGCCAGAGGCAGAAATAAAAGGTACACGTCAAGGAGGAGGAGGCAGCGGCGCAGGACAGGAGATCTGGTTCCTCCAGGCCCAGCCGGGTACACAGGCACAGGAAGAGCAGACTCCGGGTGCTCGTCTTGTGTGCCAGGCACTGCCAGGTGCCATCGCCCCGAGAGCATCGGCACTGGCCCCGAATGCTGGTCAAAGGAAGCTAGGTTGGGACACAGGCCGGCAGCGGGTGCAAGATGCCAGGGAGCAGGCGGCCAGGCGGGCCAGCACATGCGGCTGCAGCTCAGCCATCCCCCCCGGGTCCCGGCAGGCTCGGCATGGGTAGGGGACAGCCAGCCCTGGCCACCCCCTCTGGGCCTGGCACCCACCGGTGTTCCCGGATGTCGGCTCGATAATCGTGTCCCCGGGCTTCAGCGTCCCGTCGCGCTCAGCATCCTCAATCATCCGCAGGCTGATGCGGTCCTTCACGCTCCCGCCCGCGTTGAAGAACTCACACTTGGCCACTGGGAGGCAGAGATGAATCACAGAGGGGACCCCCTGACCACCCCCCCATTGATTCCTGCTCACCCCCCCATTACCTGATACACCCCAGGGTGGGGGACGGGCTTGGGGGTCTGTGGGTTCTGAAAAATTGCCACCTCTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCTGGTGGCCTCCGGCAAGCCACGTGACCAACCTGACCCTCGGTGTGTCTGTCTGTAAAACGGGCATTCCAAAACCTACTTCAAGGGCAACCACCAAGTTTAGACGTCATCCTGTACGGAGCACAGTGAGCCAGCCACGCGTGCTGCGTACGAGTTAAGGGTCCCTATTGTCTGACAAATGAGCACAGAGCCGGCCCTGCTGCCTTGGGGGTCTCTGTGAAGGGGGCTGCTCTGCTGCAGCTCCGAGATCTCCTTCCCTAGAGGGGGGCAGAGGAGGGCCAGGCTCCCACGAGGCCCCTCCTGTGAATCGGCGATCGGTTCCCAACGCACCGACCCCTGACTTCCTTCCCCCAGCGCCTGCCCCAGCTCTCACAGGTCCCCCGGCTGGGACATTAGAGCATCTCAGGATGAAAAAGTCCCAAGCCATGTTACTGGTTCCCTCTCCTTCCCA
AGAGCTCCTGGCTGATCCTCAGAGGCCCCCAGTTGGAACTCCGACCCCCCACTCAGCGCAGGAAGGTTCTCCAAGACACTGGCCGGTGAGCGAGCACCCAGCCCCAGCTCCTTCGGGTCACGAGCTGCTGGTCCCTTATGTGTCAAGCACCCTTGTCTTCCCAAACACCTCCCAGGCAGCGCAGAAATACCGCGGGAGACAGCGTGCTGAGCAGACCGTGAGGAATGACAGCTTTCAGCTCAGAAGCCGGGGCCACTCCGCACTGCCCCTCTCCGGCCCGGCCACACCACTCACCCTGCATCCAGGACACTTCTCCTTCAGCTTCCTGGCAATGCCCGTGATGGTGCCGCCCGTGCCCACTGAAGCCACCAGCATGTCCAGCTTCCCTGGTGGACGGATAACATTCTTGGGTCCCTGCCTGGCCAGCCCATCACTCATAGTAATAATCATTGAAAACACACTCAGCCCAAACCACGGTGGGTAACCAAAAAGTTCAAAAGAAAAACTTCTTCTCCAGTTGGAGCAGCCCTCGTTGCTGCCCTTGGTCTGTGAAAGCCTCAGAAACAGGCAGCCTGGGGCACCCCAGCCCAGTCTTTGCTCAGTGACACTCGACCCCTAAAACCCCCATTTGGCTGGATGCAGAAAGACAGGACCCTGTCCGGGGGGTGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATTCCCAATAGGAAGCCAGGGCGCCAACCTCTTGGCAACTTATCTCTAAAGGGATCTCTTGGGAAAACCTCAGTACCAACCCCCACAGGCCTTGGCACCGAGTCCCTGGAAAAGGGCCCAAGGAGCCGGCCTCATGCTTGTAACAGAGAGTGAGCTCATCGCAGATGTCACCAGCTCTGTTCTGCAGATGAATTTGATGCCGAGTCAGGGCATGATCCCAAATGAAGTCCAAGCTGTGAGCCCAGCACCAGCCTGGGCCCTGAACAGACTCGCTGTCTGCATTATCTGCAGGAGGAGCCCCTGCAGACCTGCAGAGATTGCTGGGTAAACAAATACAGCCATGCCCTGTGTTTGCTATTACAGGTAAACCACAGGCGGAGGCCAAGAGGGCACAACGGAGGGAGGAAATTGTTCTAGAGAAATGCTCTAGAAAAGCATTTCACAGAGGGAACATTTGAGCTGGGTTCTGAAGGGTGAATAGGAGTTCACCAAGGAGAGGGCAAGAGATGTGTACACTCCCAGGCAGCCAGGGATAAATGCAATCAAGATGGACAGAGGGACGCACCATCACACTGCTGCAGGATCTCATCAGCGGTGGTGTCGTAGTGAGCCAGGGGGTTGCTGGCGTTGCGGTACTGCATAGAAAGAGAGCAGAGCCCGTGAGCTGACCCCTGACACCTCAGTCACCCCCACATCCCTGACCGAGACCCTCCTAGGGAATGCCTGTCTCCAGGCCCCAGGTGCCTCACCTGGTCTAGGATGTGAGAATTGGGGATTTCGTTCTTCAGCCGCCAGGCCACCCCCACGTGTGACTCCGGGGAGTCGAACCTGGCATTGGTGGGCGTCCTCACAATCTCAGCCCCCAGTGCCCGCAGCACGTCCACCTGCAGGAGGGAAAGCGGTGGCCTGCACCTTCCGCCTGGCCCAGGCACCCTCATCCCCTGCCCTATGACCCCGCCCCTGGCCACGCCCACCCACCTTCTCGGAGCTCATCTTCTCTGGCATCACGATGATGCCGCGATAGCCCCTCACTGCCGCAGCCAGGGCCAGCCCGATCCCTGAGGGCACACAGAGGGTGAGAGGGGCCCAGTGACCCCCCAAGCCCTGCCCCGCCCCTGCCTGGGACACAGGGGCACACCCCGATGCCGGTTCCCTTAGGGCCCAGGGAAGAGGGTTCTGTGGGATTCCAAAATTGCCCAACATGGCTGCTTCTGCCTTCAAGTGCAGGGGGAGAGAGGCTGCCAGAGGCAGAAATAAAAGGTACACGTCAAGGAGGAGGAGGCAGCGGCGCAGGACAGGAGATCTGGTTCCTCCAGGCCCAGCCGGGTACACAGGCACAGGAAGAGCAGACTCCGGGTGCTCGTCTTGTGTGCCAGGCACTGCCAGGTGCCATCGCCCCGAGAGCATCGGCACTGGCCCCGAATGCTGGTCAAAGGAAGCTAGGTTGGGACACAGGCCGGCAGCGGGTGCAAGATGCCAGGGAGCAGGCGGCCAGGCGGGCCAGCACATGCGGCTGCAGCTCAGCCATCCCCCCCGGGTCCCGGCAGGCTCGGCATGGGTAGGGGACAGCCAGCCCTGGCCACCCCCTCTGGGCCTGGCACCCACCGGTGTTCCCGGATGTCGGCTCGATAATCGTGTCCCCGGGCTTCAGCGTCCCGTCGCGCTCAGCATCCTCAATCATCCGCAGGCTGATGCGGTCCTTCACGCTCCCGCCCGCGTTGAAGAACTCACACTTGGCCACTGGGAGGCAGAGATGAATCACAGAGGGGACCCCCTGACCACCCCCCCATTGATTCCTGCTCACCCCCCCATTACCTGATACACCCCAGGGTGGGGGACGGGCTTGGGGGTCTGTGGGTTCTGAAAAATTGCCACCTCTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCTGGTGGCCTCCGGCAAGCCACGTGACCAACCTGACCCTCGGTGTGTCTGTCTGTAAAACGGGCATTCCAAAACCTACTTCAAGGGCAACCACCAAGTTTAGACGTCATCCTGTACGGAGCACAGTGAGCCAGCCACGCGTGCTGCGTACGAGTTAAGGGTCCCTATTGTCTGACAAATGAGCACAGAGCCGGCCCTGCTGCCTTGGGGGTCTCTGTGAAGGGGGCTGCTCTGCTGCAGCTCCGAGATCTCCTTCCCTAGAGGGGGGCAGAGGAGGGCCAGGCTCCCACGAGGCCCCTCCTGTGAATCGGCGATCGGTTCCCAACGCACCGACCCCTGACTTCCTTCCCCCAGCGCCTGCCCCAGCTCTCACAGGTCCCCCGGCTGGGACATTAGAGCATCTCAGGATGAAAAAGTCCCAAGCCATGTTACTGGTTCCCTCTCCTTCCCA
Task1_train_28412
A variant on Chromosome 21 in gene CBS (cystathionine beta-synthase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Familial thoracic aortic aneurysm and aortic dissection
AGTCTTTGCTCAGTGACACTCGACCCCTAAAACCCCCATTTGGCTGGATGCAGAAAGACAGGACCCTGTCCGGGGGGTGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATTCCCAATAGGAAGCCAGGGCGCCAACCTCTTGGCAACTTATCTCTAAAGGGATCTCTTGGGAAAACCTCAGTACCAACCCCCACAGGCCTTGGCACCGAGTCCCTGGAAAAGGGCCCAAGGAGCCGGCCTCATGCTTGTAACAGAGAGTGAGCTCATCGCAGATGTCACCAGCTCTGTTCTGCAGATGAATTTGATGCCGAGTCAGGGCATGATCCCAAATGAAGTCCAAGCTGTGAGCCCAGCACCAGCCTGGGCCCTGAACAGACTCGCTGTCTGCATTATCTGCAGGAGGAGCCCCTGCAGACCTGCAGAGATTGCTGGGTAAACAAATACAGCCATGCCCTGTGTTTGCTATTACAGGTAAACCACAGGCGGAGGCCAAGAGGGCACAACGGAGGGAGGAAATTGTTCTAGAGAAATGCTCTAGAAAAGCATTTCACAGAGGGAACATTTGAGCTGGGTTCTGAAGGGTGAATAGGAGTTCACCAAGGAGAGGGCAAGAGATGTGTACACTCCCAGGCAGCCAGGGATAAATGCAATCAAGATGGACAGAGGGACGCACCATCACACTGCTGCAGGATCTCATCAGCGGTGGTGTCGTAGTGAGCCAGGGGGTTGCTGGCGTTGCGGTACTGCATAGAAAGAGAGCAGAGCCCGTGAGCTGACCCCTGACACCTCAGTCACCCCCACATCCCTGACCGAGACCCTCCTAGGGAATGCCTGTCTCCAGGCCCCAGGTGCCTCACCTGGTCTAGGATGTGAGAATTGGGGATTTCGTTCTTCAGCCGCCAGGCCACCCCCACGTGTGACTCCGGGGAGTCGAACCTGGCATTGGTGGGCGTCCTCACAATCTCAGCCCCCAGTGCCCGCAGCACGTCCACCTGCAGGAGGGAAAGCGGTGGCCTGCACCTTCCGCCTGGCCCAGGCACCCTCATCCCCTGCCCTATGACCCCGCCCCTGGCCACGCCCACCCACCTTCTCGGAGCTCATCTTCTCTGGCATCACGATGATGCAGCGATAGCCCCTCACTGCCGCAGCCAGGGCCAGCCCGATCCCTGAGGGCACACAGAGGGTGAGAGGGGCCCAGTGACCCCCCAAGCCCTGCCCCGCCCCTGCCTGGGACACAGGGGCACACCCCGATGCCGGTTCCCTTAGGGCCCAGGGAAGAGGGTTCTGTGGGATTCCAAAATTGCCCAACATGGCTGCTTCTGCCTTCAAGTGCAGGGGGAGAGAGGCTGCCAGAGGCAGAAATAAAAGGTACACGTCAAGGAGGAGGAGGCAGCGGCGCAGGACAGGAGATCTGGTTCCTCCAGGCCCAGCCGGGTACACAGGCACAGGAAGAGCAGACTCCGGGTGCTCGTCTTGTGTGCCAGGCACTGCCAGGTGCCATCGCCCCGAGAGCATCGGCACTGGCCCCGAATGCTGGTCAAAGGAAGCTAGGTTGGGACACAGGCCGGCAGCGGGTGCAAGATGCCAGGGAGCAGGCGGCCAGGCGGGCCAGCACATGCGGCTGCAGCTCAGCCATCCCCCCCGGGTCCCGGCAGGCTCGGCATGGGTAGGGGACAGCCAGCCCTGGCCACCCCCTCTGGGCCTGGCACCCACCGGTGTTCCCGGATGTCGGCTCGATAATCGTGTCCCCGGGCTTCAGCGTCCCGTCGCGCTCAGCATCCTCAATCATCCGCAGGCTGATGCGGTCCTTCACGCTCCCGCCCGCGTTGAAGAACTCACACTTGGCCACTGGGAGGCAGAGATGAATCACAGAGGGGACCCCCTGACCACCCCCCCATTGATTCCTGCTCACCCCCCCATTACCTGATACACCCCAGGGTGGGGGACGGGCTTGGGGGTCTGTGGGTTCTGAAAAATTGCCACCTCTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCTGGTGGCCTCCGGCAAGCCACGTGACCAACCTGACCCTCGGTGTGTCTGTCTGTAAAACGGGCATTCCAAAACCTACTTCAAGGGCAACCACCAAGTTTAGACGTCATCCTGTACGGAGCACAGTGAGCCAGCCACGCGTGCTGCGTACGAGTTAAGGGTCCCTATTGTCTGACAAATGAGCACAGAGCCGGCCCTGCTGCCTTGGGGGTCTCTGTGAAGGGGGCTGCTCTGCTGCAGCTCCGAGATCTCCTTCCCTAGAGGGGGGCAGAGGAGGGCCAGGCTCCCACGAGGCCCCTCCTGTGAATCGGCGATCGGTTCCCAACGCACCGACCCCTGACTTCCTTCCCCCAGCGCCTGCCCCAGCTCTCACAGGTCCCCCGGCTGGGACATTAGAGCATCTCAGGATGAAAAAGTCCCAAGCCATGTTACTGGTTCCCTCTCCTTCCCACTCGAACTCCACCCCCTCCATCTGGCCCTGTCGCGGGGTTCTCCGCGGCACCCTTCCTGCCTCCCTCCGAACTCACTTGGCCTTGGTCATCTGAAATACGAAATTCCGTCCCCGCCTTGTCCCCAAGGCCTCTGCACCCACAGCTTTCTCTGTGACGATGCTGAGGTCTACCAGGGCTCTGCGCTCTTGGTGAAGAGCGACCCTTAGGAATTCCCTCCACGTTCTTGAGCCTGGAAACTGCGTCCTGCAAAGAAATGCCCTTCCCCGGAGGCCTCAGACCACACCTCAGGTGACCCCCTGCGCACCCAGGACGAGGCCAGCCACAGACCCTCCAAATTCCCATTCTCTGTCTCATAAATGATGAGCTGAACTATCTGTCCCCACGAAGCTGGCAAGACAGAGGTAACCGCTCCCTGGACAGCGGGTGGCTCACAGCACGTGCTAGGACCCGTCCACTGCTCCTTAGCAGGCATGACGCTAACCCTCCCCACCTGCTTGCTTCTGCCTTTGACCCTCACCCGGCCCTTCACACCCTCGCTGCTTCCACTCCGGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCA
AGTCTTTGCTCAGTGACACTCGACCCCTAAAACCCCCATTTGGCTGGATGCAGAAAGACAGGACCCTGTCCGGGGGGTGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATTCCCAATAGGAAGCCAGGGCGCCAACCTCTTGGCAACTTATCTCTAAAGGGATCTCTTGGGAAAACCTCAGTACCAACCCCCACAGGCCTTGGCACCGAGTCCCTGGAAAAGGGCCCAAGGAGCCGGCCTCATGCTTGTAACAGAGAGTGAGCTCATCGCAGATGTCACCAGCTCTGTTCTGCAGATGAATTTGATGCCGAGTCAGGGCATGATCCCAAATGAAGTCCAAGCTGTGAGCCCAGCACCAGCCTGGGCCCTGAACAGACTCGCTGTCTGCATTATCTGCAGGAGGAGCCCCTGCAGACCTGCAGAGATTGCTGGGTAAACAAATACAGCCATGCCCTGTGTTTGCTATTACAGGTAAACCACAGGCGGAGGCCAAGAGGGCACAACGGAGGGAGGAAATTGTTCTAGAGAAATGCTCTAGAAAAGCATTTCACAGAGGGAACATTTGAGCTGGGTTCTGAAGGGTGAATAGGAGTTCACCAAGGAGAGGGCAAGAGATGTGTACACTCCCAGGCAGCCAGGGATAAATGCAATCAAGATGGACAGAGGGACGCACCATCACACTGCTGCAGGATCTCATCAGCGGTGGTGTCGTAGTGAGCCAGGGGGTTGCTGGCGTTGCGGTACTGCATAGAAAGAGAGCAGAGCCCGTGAGCTGACCCCTGACACCTCAGTCACCCCCACATCCCTGACCGAGACCCTCCTAGGGAATGCCTGTCTCCAGGCCCCAGGTGCCTCACCTGGTCTAGGATGTGAGAATTGGGGATTTCGTTCTTCAGCCGCCAGGCCACCCCCACGTGTGACTCCGGGGAGTCGAACCTGGCATTGGTGGGCGTCCTCACAATCTCAGCCCCCAGTGCCCGCAGCACGTCCACCTGCAGGAGGGAAAGCGGTGGCCTGCACCTTCCGCCTGGCCCAGGCACCCTCATCCCCTGCCCTATGACCCCGCCCCTGGCCACGCCCACCCACCTTCTCGGAGCTCATCTTCTCTGGCATCACGATGATGCAGCGATAGCCCCTCACTGCCGCAGCCAGGGCCAGCCCGATCCCTGAGGGCACACAGAGGGTGAGAGGGGCCCAGTGACCCCCCAAGCCCTGCCCCGCCCCTGCCTGGGACACAGGGGCACACCCCGATGCCGGTTCCCTTAGGGCCCAGGGAAGAGGGTTCTGTGGGATTCCAAAATTGCCCAACATGGCTGCTTCTGCCTTCAAGTGCAGGGGGAGAGAGGCTGCCAGAGGCAGAAATAAAAGGTACACGTCAAGGAGGAGGAGGCAGCGGCGCAGGACAGGAGATCTGGTTCCTCCAGGCCCAGCCGGGTACACAGGCACAGGAAGAGCAGACTCCGGGTGCTCGTCTTGTGTGCCAGGCACTGCCAGGTGCCATCGCCCCGAGAGCATCGGCACTGGCCCCGAATGCTGGTCAAAGGAAGCTAGGTTGGGACACAGGCCGGCAGCGGGTGCAAGATGCCAGGGAGCAGGCGGCCAGGCGGGCCAGCACATGCGGCTGCAGCTCAGCCATCCCCCCCGGGTCCCGGCAGGCTCGGCATGGGTAGGGGACAGCCAGCCCTGGCCACCCCCTCTGGGCCTGGCACCCACTGGTGTTCCCGGATGTCGGCTCGATAATCGTGTCCCCGGGCTTCAGCGTCCCGTCGCGCTCAGCATCCTCAATCATCCGCAGGCTGATGCGGTCCTTCACGCTCCCGCCCGCGTTGAAGAACTCACACTTGGCCACTGGGAGGCAGAGATGAATCACAGAGGGGACCCCCTGACCACCCCCCCATTGATTCCTGCTCACCCCCCCATTACCTGATACACCCCAGGGTGGGGGACGGGCTTGGGGGTCTGTGGGTTCTGAAAAATTGCCACCTCTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCTGGTGGCCTCCGGCAAGCCACGTGACCAACCTGACCCTCGGTGTGTCTGTCTGTAAAACGGGCATTCCAAAACCTACTTCAAGGGCAACCACCAAGTTTAGACGTCATCCTGTACGGAGCACAGTGAGCCAGCCACGCGTGCTGCGTACGAGTTAAGGGTCCCTATTGTCTGACAAATGAGCACAGAGCCGGCCCTGCTGCCTTGGGGGTCTCTGTGAAGGGGGCTGCTCTGCTGCAGCTCCGAGATCTCCTTCCCTAGAGGGGGGCAGAGGAGGGCCAGGCTCCCACGAGGCCCCTCCTGTGAATCGGCGATCGGTTCCCAACGCACCGACCCCTGACTTCCTTCCCCCAGCGCCTGCCCCAGCTCTCACAGGTCCCCCGGCTGGGACATTAGAGCATCTCAGGATGAAAAAGTCCCAAGCCATGTTACTGGTTCCCTCTCCTTCCCACTCGAACTCCACCCCCTCCATCTGGCCCTGTCGCGGGGTTCTCCGCGGCACCCTTCCTGCCTCCCTCCGAACTCACTTGGCCTTGGTCATCTGAAATACGAAATTCCGTCCCCGCCTTGTCCCCAAGGCCTCTGCACCCACAGCTTTCTCTGTGACGATGCTGAGGTCTACCAGGGCTCTGCGCTCTTGGTGAAGAGCGACCCTTAGGAATTCCCTCCACGTTCTTGAGCCTGGAAACTGCGTCCTGCAAAGAAATGCCCTTCCCCGGAGGCCTCAGACCACACCTCAGGTGACCCCCTGCGCACCCAGGACGAGGCCAGCCACAGACCCTCCAAATTCCCATTCTCTGTCTCATAAATGATGAGCTGAACTATCTGTCCCCACGAAGCTGGCAAGACAGAGGTAACCGCTCCCTGGACAGCGGGTGGCTCACAGCACGTGCTAGGACCCGTCCACTGCTCCTTAGCAGGCATGACGCTAACCCTCCCCACCTGCTTGCTTCTGCCTTTGACCCTCACCCGGCCCTTCACACCCTCGCTGCTTCCACTCCGGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCA
Task1_train_28413
The gene CBS (cystathionine beta-synthase), on Chromosome 21, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Homocystinuria
AGTCTTTGCTCAGTGACACTCGACCCCTAAAACCCCCATTTGGCTGGATGCAGAAAGACAGGACCCTGTCCGGGGGGTGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATTCCCAATAGGAAGCCAGGGCGCCAACCTCTTGGCAACTTATCTCTAAAGGGATCTCTTGGGAAAACCTCAGTACCAACCCCCACAGGCCTTGGCACCGAGTCCCTGGAAAAGGGCCCAAGGAGCCGGCCTCATGCTTGTAACAGAGAGTGAGCTCATCGCAGATGTCACCAGCTCTGTTCTGCAGATGAATTTGATGCCGAGTCAGGGCATGATCCCAAATGAAGTCCAAGCTGTGAGCCCAGCACCAGCCTGGGCCCTGAACAGACTCGCTGTCTGCATTATCTGCAGGAGGAGCCCCTGCAGACCTGCAGAGATTGCTGGGTAAACAAATACAGCCATGCCCTGTGTTTGCTATTACAGGTAAACCACAGGCGGAGGCCAAGAGGGCACAACGGAGGGAGGAAATTGTTCTAGAGAAATGCTCTAGAAAAGCATTTCACAGAGGGAACATTTGAGCTGGGTTCTGAAGGGTGAATAGGAGTTCACCAAGGAGAGGGCAAGAGATGTGTACACTCCCAGGCAGCCAGGGATAAATGCAATCAAGATGGACAGAGGGACGCACCATCACACTGCTGCAGGATCTCATCAGCGGTGGTGTCGTAGTGAGCCAGGGGGTTGCTGGCGTTGCGGTACTGCATAGAAAGAGAGCAGAGCCCGTGAGCTGACCCCTGACACCTCAGTCACCCCCACATCCCTGACCGAGACCCTCCTAGGGAATGCCTGTCTCCAGGCCCCAGGTGCCTCACCTGGTCTAGGATGTGAGAATTGGGGATTTCGTTCTTCAGCCGCCAGGCCACCCCCACGTGTGACTCCGGGGAGTCGAACCTGGCATTGGTGGGCGTCCTCACAATCTCAGCCCCCAGTGCCCGCAGCACGTCCACCTGCAGGAGGGAAAGCGGTGGCCTGCACCTTCCGCCTGGCCCAGGCACCCTCATCCCCTGCCCTATGACCCCGCCCCTGGCCACGCCCACCCACCTTCTCGGAGCTCATCTTCTCTGGCATCACGATGATGCAGCGATAGCCCCTCACTGCCGCAGCCAGGGCCAGCCCGATCCCTGAGGGCACACAGAGGGTGAGAGGGGCCCAGTGACCCCCCAAGCCCTGCCCCGCCCCTGCCTGGGACACAGGGGCACACCCCGATGCCGGTTCCCTTAGGGCCCAGGGAAGAGGGTTCTGTGGGATTCCAAAATTGCCCAACATGGCTGCTTCTGCCTTCAAGTGCAGGGGGAGAGAGGCTGCCAGAGGCAGAAATAAAAGGTACACGTCAAGGAGGAGGAGGCAGCGGCGCAGGACAGGAGATCTGGTTCCTCCAGGCCCAGCCGGGTACACAGGCACAGGAAGAGCAGACTCCGGGTGCTCGTCTTGTGTGCCAGGCACTGCCAGGTGCCATCGCCCCGAGAGCATCGGCACTGGCCCCGAATGCTGGTCAAAGGAAGCTAGGTTGGGACACAGGCCGGCAGCGGGTGCAAGATGCCAGGGAGCAGGCGGCCAGGCGGGCCAGCACATGCGGCTGCAGCTCAGCCATCCCCCCCGGGTCCCGGCAGGCTCGGCATGGGTAGGGGACAGCCAGCCCTGGCCACCCCCTCTGGGCCTGGCACCCACCGGTGTTCCCGGATGTCGGCTCGATAATCGTGTCCCCGGGCTTCAGCGTCCCGTCGCGCTCAGCATCCTCAATCATCCGCAGGCTGATGCGGTCCTTCACGCTCCCGCCCGCGTTGAAGAACTCACACTTGGCCACTGGGAGGCAGAGATGAATCACAGAGGGGACCCCCTGACCACCCCCCCATTGATTCCTGCTCACCCCCCCATTACCTGATACACCCCAGGGTGGGGGACGGGCTTGGGGGTCTGTGGGTTCTGAAAAATTGCCACCTCTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCTGGTGGCCTCCGGCAAGCCACGTGACCAACCTGACCCTCGGTGTGTCTGTCTGTAAAACGGGCATTCCAAAACCTACTTCAAGGGCAACCACCAAGTTTAGACGTCATCCTGTACGGAGCACAGTGAGCCAGCCACGCGTGCTGCGTACGAGTTAAGGGTCCCTATTGTCTGACAAATGAGCACAGAGCCGGCCCTGCTGCCTTGGGGGTCTCTGTGAAGGGGGCTGCTCTGCTGCAGCTCCGAGATCTCCTTCCCTAGAGGGGGGCAGAGGAGGGCCAGGCTCCCACGAGGCCCCTCCTGTGAATCGGCGATCGGTTCCCAACGCACCGACCCCTGACTTCCTTCCCCCAGCGCCTGCCCCAGCTCTCACAGGTCCCCCGGCTGGGACATTAGAGCATCTCAGGATGAAAAAGTCCCAAGCCATGTTACTGGTTCCCTCTCCTTCCCACTCGAACTCCACCCCCTCCATCTGGCCCTGTCGCGGGGTTCTCCGCGGCACCCTTCCTGCCTCCCTCCGAACTCACTTGGCCTTGGTCATCTGAAATACGAAATTCCGTCCCCGCCTTGTCCCCAAGGCCTCTGCACCCACAGCTTTCTCTGTGACGATGCTGAGGTCTACCAGGGCTCTGCGCTCTTGGTGAAGAGCGACCCTTAGGAATTCCCTCCACGTTCTTGAGCCTGGAAACTGCGTCCTGCAAAGAAATGCCCTTCCCCGGAGGCCTCAGACCACACCTCAGGTGACCCCCTGCGCACCCAGGACGAGGCCAGCCACAGACCCTCCAAATTCCCATTCTCTGTCTCATAAATGATGAGCTGAACTATCTGTCCCCACGAAGCTGGCAAGACAGAGGTAACCGCTCCCTGGACAGCGGGTGGCTCACAGCACGTGCTAGGACCCGTCCACTGCTCCTTAGCAGGCATGACGCTAACCCTCCCCACCTGCTTGCTTCTGCCTTTGACCCTCACCCGGCCCTTCACACCCTCGCTGCTTCCACTCCGGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCA
AGTCTTTGCTCAGTGACACTCGACCCCTAAAACCCCCATTTGGCTGGATGCAGAAAGACAGGACCCTGTCCGGGGGGTGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATTCCCAATAGGAAGCCAGGGCGCCAACCTCTTGGCAACTTATCTCTAAAGGGATCTCTTGGGAAAACCTCAGTACCAACCCCCACAGGCCTTGGCACCGAGTCCCTGGAAAAGGGCCCAAGGAGCCGGCCTCATGCTTGTAACAGAGAGTGAGCTCATCGCAGATGTCACCAGCTCTGTTCTGCAGATGAATTTGATGCCGAGTCAGGGCATGATCCCAAATGAAGTCCAAGCTGTGAGCCCAGCACCAGCCTGGGCCCTGAACAGACTCGCTGTCTGCATTATCTGCAGGAGGAGCCCCTGCAGACCTGCAGAGATTGCTGGGTAAACAAATACAGCCATGCCCTGTGTTTGCTATTACAGGTAAACCACAGGCGGAGGCCAAGAGGGCACAACGGAGGGAGGAAATTGTTCTAGAGAAATGCTCTAGAAAAGCATTTCACAGAGGGAACATTTGAGCTGGGTTCTGAAGGGTGAATAGGAGTTCACCAAGGAGAGGGCAAGAGATGTGTACACTCCCAGGCAGCCAGGGATAAATGCAATCAAGATGGACAGAGGGACGCACCATCACACTGCTGCAGGATCTCATCAGCGGTGGTGTCGTAGTGAGCCAGGGGGTTGCTGGCGTTGCGGTACTGCATAGAAAGAGAGCAGAGCCCGTGAGCTGACCCCTGACACCTCAGTCACCCCCACATCCCTGACCGAGACCCTCCTAGGGAATGCCTGTCTCCAGGCCCCAGGTGCCTCACCTGGTCTAGGATGTGAGAATTGGGGATTTCGTTCTTCAGCCGCCAGGCCACCCCCACGTGTGACTCCGGGGAGTCGAACCTGGCATTGGTGGGCGTCCTCACAATCTCAGCCCCCAGTGCCCGCAGCACGTCCACCTGCAGGAGGGAAAGCGGTGGCCTGCACCTTCCGCCTGGCCCAGGCACCCTCATCCCCTGCCCTATGACCCCGCCCCTGGCCACGCCCACCCACCTTCTCGGAGCTCATCTTCTCTGGCATCACGATGATGCAGCGATAGCCCCTCACTGCCGCAGCCAGGGCCAGCCCGATCCCTGAGGGCACACAGAGGGTGAGAGGGGCCCAGTGACCCCCCAAGCCCTGCCCCGCCCCTGCCTGGGACACAGGGGCACACCCCGATGCCGGTTCCCTTAGGGCCCAGGGAAGAGGGTTCTGTGGGATTCCAAAATTGCCCAACATGGCTGCTTCTGCCTTCAAGTGCAGGGGGAGAGAGGCTGCCAGAGGCAGAAATAAAAGGTACACGTCAAGGAGGAGGAGGCAGCGGCGCAGGACAGGAGATCTGGTTCCTCCAGGCCCAGCCGGGTACACAGGCACAGGAAGAGCAGACTCCGGGTGCTCGTCTTGTGTGCCAGGCACTGCCAGGTGCCATCGCCCCGAGAGCATCGGCACTGGCCCCGAATGCTGGTCAAAGGAAGCTAGGTTGGGACACAGGCCGGCAGCGGGTGCAAGATGCCAGGGAGCAGGCGGCCAGGCGGGCCAGCACATGCGGCTGCAGCTCAGCCATCCCCCCCGGGTCCCGGCAGGCTCGGCATGGGTAGGGGACAGCCAGCCCTGGCCACCCCCTCTGGGCCTGGCACCCACTGGTGTTCCCGGATGTCGGCTCGATAATCGTGTCCCCGGGCTTCAGCGTCCCGTCGCGCTCAGCATCCTCAATCATCCGCAGGCTGATGCGGTCCTTCACGCTCCCGCCCGCGTTGAAGAACTCACACTTGGCCACTGGGAGGCAGAGATGAATCACAGAGGGGACCCCCTGACCACCCCCCCATTGATTCCTGCTCACCCCCCCATTACCTGATACACCCCAGGGTGGGGGACGGGCTTGGGGGTCTGTGGGTTCTGAAAAATTGCCACCTCTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCTGGTGGCCTCCGGCAAGCCACGTGACCAACCTGACCCTCGGTGTGTCTGTCTGTAAAACGGGCATTCCAAAACCTACTTCAAGGGCAACCACCAAGTTTAGACGTCATCCTGTACGGAGCACAGTGAGCCAGCCACGCGTGCTGCGTACGAGTTAAGGGTCCCTATTGTCTGACAAATGAGCACAGAGCCGGCCCTGCTGCCTTGGGGGTCTCTGTGAAGGGGGCTGCTCTGCTGCAGCTCCGAGATCTCCTTCCCTAGAGGGGGGCAGAGGAGGGCCAGGCTCCCACGAGGCCCCTCCTGTGAATCGGCGATCGGTTCCCAACGCACCGACCCCTGACTTCCTTCCCCCAGCGCCTGCCCCAGCTCTCACAGGTCCCCCGGCTGGGACATTAGAGCATCTCAGGATGAAAAAGTCCCAAGCCATGTTACTGGTTCCCTCTCCTTCCCACTCGAACTCCACCCCCTCCATCTGGCCCTGTCGCGGGGTTCTCCGCGGCACCCTTCCTGCCTCCCTCCGAACTCACTTGGCCTTGGTCATCTGAAATACGAAATTCCGTCCCCGCCTTGTCCCCAAGGCCTCTGCACCCACAGCTTTCTCTGTGACGATGCTGAGGTCTACCAGGGCTCTGCGCTCTTGGTGAAGAGCGACCCTTAGGAATTCCCTCCACGTTCTTGAGCCTGGAAACTGCGTCCTGCAAAGAAATGCCCTTCCCCGGAGGCCTCAGACCACACCTCAGGTGACCCCCTGCGCACCCAGGACGAGGCCAGCCACAGACCCTCCAAATTCCCATTCTCTGTCTCATAAATGATGAGCTGAACTATCTGTCCCCACGAAGCTGGCAAGACAGAGGTAACCGCTCCCTGGACAGCGGGTGGCTCACAGCACGTGCTAGGACCCGTCCACTGCTCCTTAGCAGGCATGACGCTAACCCTCCCCACCTGCTTGCTTCTGCCTTTGACCCTCACCCGGCCCTTCACACCCTCGCTGCTTCCACTCCGGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCA
Task1_train_28414
The gene CBS (cystathionine beta-synthase) is located on Chromosome 21, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Classic homocystinuria
AGTCTTTGCTCAGTGACACTCGACCCCTAAAACCCCCATTTGGCTGGATGCAGAAAGACAGGACCCTGTCCGGGGGGTGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATTCCCAATAGGAAGCCAGGGCGCCAACCTCTTGGCAACTTATCTCTAAAGGGATCTCTTGGGAAAACCTCAGTACCAACCCCCACAGGCCTTGGCACCGAGTCCCTGGAAAAGGGCCCAAGGAGCCGGCCTCATGCTTGTAACAGAGAGTGAGCTCATCGCAGATGTCACCAGCTCTGTTCTGCAGATGAATTTGATGCCGAGTCAGGGCATGATCCCAAATGAAGTCCAAGCTGTGAGCCCAGCACCAGCCTGGGCCCTGAACAGACTCGCTGTCTGCATTATCTGCAGGAGGAGCCCCTGCAGACCTGCAGAGATTGCTGGGTAAACAAATACAGCCATGCCCTGTGTTTGCTATTACAGGTAAACCACAGGCGGAGGCCAAGAGGGCACAACGGAGGGAGGAAATTGTTCTAGAGAAATGCTCTAGAAAAGCATTTCACAGAGGGAACATTTGAGCTGGGTTCTGAAGGGTGAATAGGAGTTCACCAAGGAGAGGGCAAGAGATGTGTACACTCCCAGGCAGCCAGGGATAAATGCAATCAAGATGGACAGAGGGACGCACCATCACACTGCTGCAGGATCTCATCAGCGGTGGTGTCGTAGTGAGCCAGGGGGTTGCTGGCGTTGCGGTACTGCATAGAAAGAGAGCAGAGCCCGTGAGCTGACCCCTGACACCTCAGTCACCCCCACATCCCTGACCGAGACCCTCCTAGGGAATGCCTGTCTCCAGGCCCCAGGTGCCTCACCTGGTCTAGGATGTGAGAATTGGGGATTTCGTTCTTCAGCCGCCAGGCCACCCCCACGTGTGACTCCGGGGAGTCGAACCTGGCATTGGTGGGCGTCCTCACAATCTCAGCCCCCAGTGCCCGCAGCACGTCCACCTGCAGGAGGGAAAGCGGTGGCCTGCACCTTCCGCCTGGCCCAGGCACCCTCATCCCCTGCCCTATGACCCCGCCCCTGGCCACGCCCACCCACCTTCTCGGAGCTCATCTTCTCTGGCATCACGATGATGCAGCGATAGCCCCTCACTGCCGCAGCCAGGGCCAGCCCGATCCCTGAGGGCACACAGAGGGTGAGAGGGGCCCAGTGACCCCCCAAGCCCTGCCCCGCCCCTGCCTGGGACACAGGGGCACACCCCGATGCCGGTTCCCTTAGGGCCCAGGGAAGAGGGTTCTGTGGGATTCCAAAATTGCCCAACATGGCTGCTTCTGCCTTCAAGTGCAGGGGGAGAGAGGCTGCCAGAGGCAGAAATAAAAGGTACACGTCAAGGAGGAGGAGGCAGCGGCGCAGGACAGGAGATCTGGTTCCTCCAGGCCCAGCCGGGTACACAGGCACAGGAAGAGCAGACTCCGGGTGCTCGTCTTGTGTGCCAGGCACTGCCAGGTGCCATCGCCCCGAGAGCATCGGCACTGGCCCCGAATGCTGGTCAAAGGAAGCTAGGTTGGGACACAGGCCGGCAGCGGGTGCAAGATGCCAGGGAGCAGGCGGCCAGGCGGGCCAGCACATGCGGCTGCAGCTCAGCCATCCCCCCCGGGTCCCGGCAGGCTCGGCATGGGTAGGGGACAGCCAGCCCTGGCCACCCCCTCTGGGCCTGGCACCCACCGGTGTTCCCGGATGTCGGCTCGATAATCGTGTCCCCGGGCTTCAGCGTCCCGTCGCGCTCAGCATCCTCAATCATCCGCAGGCTGATGCGGTCCTTCACGCTCCCGCCCGCGTTGAAGAACTCACACTTGGCCACTGGGAGGCAGAGATGAATCACAGAGGGGACCCCCTGACCACCCCCCCATTGATTCCTGCTCACCCCCCCATTACCTGATACACCCCAGGGTGGGGGACGGGCTTGGGGGTCTGTGGGTTCTGAAAAATTGCCACCTCTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCTGGTGGCCTCCGGCAAGCCACGTGACCAACCTGACCCTCGGTGTGTCTGTCTGTAAAACGGGCATTCCAAAACCTACTTCAAGGGCAACCACCAAGTTTAGACGTCATCCTGTACGGAGCACAGTGAGCCAGCCACGCGTGCTGCGTACGAGTTAAGGGTCCCTATTGTCTGACAAATGAGCACAGAGCCGGCCCTGCTGCCTTGGGGGTCTCTGTGAAGGGGGCTGCTCTGCTGCAGCTCCGAGATCTCCTTCCCTAGAGGGGGGCAGAGGAGGGCCAGGCTCCCACGAGGCCCCTCCTGTGAATCGGCGATCGGTTCCCAACGCACCGACCCCTGACTTCCTTCCCCCAGCGCCTGCCCCAGCTCTCACAGGTCCCCCGGCTGGGACATTAGAGCATCTCAGGATGAAAAAGTCCCAAGCCATGTTACTGGTTCCCTCTCCTTCCCACTCGAACTCCACCCCCTCCATCTGGCCCTGTCGCGGGGTTCTCCGCGGCACCCTTCCTGCCTCCCTCCGAACTCACTTGGCCTTGGTCATCTGAAATACGAAATTCCGTCCCCGCCTTGTCCCCAAGGCCTCTGCACCCACAGCTTTCTCTGTGACGATGCTGAGGTCTACCAGGGCTCTGCGCTCTTGGTGAAGAGCGACCCTTAGGAATTCCCTCCACGTTCTTGAGCCTGGAAACTGCGTCCTGCAAAGAAATGCCCTTCCCCGGAGGCCTCAGACCACACCTCAGGTGACCCCCTGCGCACCCAGGACGAGGCCAGCCACAGACCCTCCAAATTCCCATTCTCTGTCTCATAAATGATGAGCTGAACTATCTGTCCCCACGAAGCTGGCAAGACAGAGGTAACCGCTCCCTGGACAGCGGGTGGCTCACAGCACGTGCTAGGACCCGTCCACTGCTCCTTAGCAGGCATGACGCTAACCCTCCCCACCTGCTTGCTTCTGCCTTTGACCCTCACCCGGCCCTTCACACCCTCGCTGCTTCCACTCCGGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCA
AGTCTTTGCTCAGTGACACTCGACCCCTAAAACCCCCATTTGGCTGGATGCAGAAAGACAGGACCCTGTCCGGGGGGTGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATTCCCAATAGGAAGCCAGGGCGCCAACCTCTTGGCAACTTATCTCTAAAGGGATCTCTTGGGAAAACCTCAGTACCAACCCCCACAGGCCTTGGCACCGAGTCCCTGGAAAAGGGCCCAAGGAGCCGGCCTCATGCTTGTAACAGAGAGTGAGCTCATCGCAGATGTCACCAGCTCTGTTCTGCAGATGAATTTGATGCCGAGTCAGGGCATGATCCCAAATGAAGTCCAAGCTGTGAGCCCAGCACCAGCCTGGGCCCTGAACAGACTCGCTGTCTGCATTATCTGCAGGAGGAGCCCCTGCAGACCTGCAGAGATTGCTGGGTAAACAAATACAGCCATGCCCTGTGTTTGCTATTACAGGTAAACCACAGGCGGAGGCCAAGAGGGCACAACGGAGGGAGGAAATTGTTCTAGAGAAATGCTCTAGAAAAGCATTTCACAGAGGGAACATTTGAGCTGGGTTCTGAAGGGTGAATAGGAGTTCACCAAGGAGAGGGCAAGAGATGTGTACACTCCCAGGCAGCCAGGGATAAATGCAATCAAGATGGACAGAGGGACGCACCATCACACTGCTGCAGGATCTCATCAGCGGTGGTGTCGTAGTGAGCCAGGGGGTTGCTGGCGTTGCGGTACTGCATAGAAAGAGAGCAGAGCCCGTGAGCTGACCCCTGACACCTCAGTCACCCCCACATCCCTGACCGAGACCCTCCTAGGGAATGCCTGTCTCCAGGCCCCAGGTGCCTCACCTGGTCTAGGATGTGAGAATTGGGGATTTCGTTCTTCAGCCGCCAGGCCACCCCCACGTGTGACTCCGGGGAGTCGAACCTGGCATTGGTGGGCGTCCTCACAATCTCAGCCCCCAGTGCCCGCAGCACGTCCACCTGCAGGAGGGAAAGCGGTGGCCTGCACCTTCCGCCTGGCCCAGGCACCCTCATCCCCTGCCCTATGACCCCGCCCCTGGCCACGCCCACCCACCTTCTCGGAGCTCATCTTCTCTGGCATCACGATGATGCAGCGATAGCCCCTCACTGCCGCAGCCAGGGCCAGCCCGATCCCTGAGGGCACACAGAGGGTGAGAGGGGCCCAGTGACCCCCCAAGCCCTGCCCCGCCCCTGCCTGGGACACAGGGGCACACCCCGATGCCGGTTCCCTTAGGGCCCAGGGAAGAGGGTTCTGTGGGATTCCAAAATTGCCCAACATGGCTGCTTCTGCCTTCAAGTGCAGGGGGAGAGAGGCTGCCAGAGGCAGAAATAAAAGGTACACGTCAAGGAGGAGGAGGCAGCGGCGCAGGACAGGAGATCTGGTTCCTCCAGGCCCAGCCGGGTACACAGGCACAGGAAGAGCAGACTCCGGGTGCTCGTCTTGTGTGCCAGGCACTGCCAGGTGCCATCGCCCCGAGAGCATCGGCACTGGCCCCGAATGCTGGTCAAAGGAAGCTAGGTTGGGACACAGGCCGGCAGCGGGTGCAAGATGCCAGGGAGCAGGCGGCCAGGCGGGCCAGCACATGCGGCTGCAGCTCAGCCATCCCCCCCGGGTCCCGGCAGGCTCGGCATGGGTAGGGGACAGCCAGCCCTGGCCACCCCCTCTGGGCCTGGCACCCACTGGTGTTCCCGGATGTCGGCTCGATAATCGTGTCCCCGGGCTTCAGCGTCCCGTCGCGCTCAGCATCCTCAATCATCCGCAGGCTGATGCGGTCCTTCACGCTCCCGCCCGCGTTGAAGAACTCACACTTGGCCACTGGGAGGCAGAGATGAATCACAGAGGGGACCCCCTGACCACCCCCCCATTGATTCCTGCTCACCCCCCCATTACCTGATACACCCCAGGGTGGGGGACGGGCTTGGGGGTCTGTGGGTTCTGAAAAATTGCCACCTCTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCTGGTGGCCTCCGGCAAGCCACGTGACCAACCTGACCCTCGGTGTGTCTGTCTGTAAAACGGGCATTCCAAAACCTACTTCAAGGGCAACCACCAAGTTTAGACGTCATCCTGTACGGAGCACAGTGAGCCAGCCACGCGTGCTGCGTACGAGTTAAGGGTCCCTATTGTCTGACAAATGAGCACAGAGCCGGCCCTGCTGCCTTGGGGGTCTCTGTGAAGGGGGCTGCTCTGCTGCAGCTCCGAGATCTCCTTCCCTAGAGGGGGGCAGAGGAGGGCCAGGCTCCCACGAGGCCCCTCCTGTGAATCGGCGATCGGTTCCCAACGCACCGACCCCTGACTTCCTTCCCCCAGCGCCTGCCCCAGCTCTCACAGGTCCCCCGGCTGGGACATTAGAGCATCTCAGGATGAAAAAGTCCCAAGCCATGTTACTGGTTCCCTCTCCTTCCCACTCGAACTCCACCCCCTCCATCTGGCCCTGTCGCGGGGTTCTCCGCGGCACCCTTCCTGCCTCCCTCCGAACTCACTTGGCCTTGGTCATCTGAAATACGAAATTCCGTCCCCGCCTTGTCCCCAAGGCCTCTGCACCCACAGCTTTCTCTGTGACGATGCTGAGGTCTACCAGGGCTCTGCGCTCTTGGTGAAGAGCGACCCTTAGGAATTCCCTCCACGTTCTTGAGCCTGGAAACTGCGTCCTGCAAAGAAATGCCCTTCCCCGGAGGCCTCAGACCACACCTCAGGTGACCCCCTGCGCACCCAGGACGAGGCCAGCCACAGACCCTCCAAATTCCCATTCTCTGTCTCATAAATGATGAGCTGAACTATCTGTCCCCACGAAGCTGGCAAGACAGAGGTAACCGCTCCCTGGACAGCGGGTGGCTCACAGCACGTGCTAGGACCCGTCCACTGCTCCTTAGCAGGCATGACGCTAACCCTCCCCACCTGCTTGCTTCTGCCTTTGACCCTCACCCGGCCCTTCACACCCTCGCTGCTTCCACTCCGGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCA
Task1_train_28415
A variant was discovered on Chromosome 21, affecting CBS (cystathionine beta-synthase). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
AGTCTTTGCTCAGTGACACTCGACCCCTAAAACCCCCATTTGGCTGGATGCAGAAAGACAGGACCCTGTCCGGGGGGTGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATTCCCAATAGGAAGCCAGGGCGCCAACCTCTTGGCAACTTATCTCTAAAGGGATCTCTTGGGAAAACCTCAGTACCAACCCCCACAGGCCTTGGCACCGAGTCCCTGGAAAAGGGCCCAAGGAGCCGGCCTCATGCTTGTAACAGAGAGTGAGCTCATCGCAGATGTCACCAGCTCTGTTCTGCAGATGAATTTGATGCCGAGTCAGGGCATGATCCCAAATGAAGTCCAAGCTGTGAGCCCAGCACCAGCCTGGGCCCTGAACAGACTCGCTGTCTGCATTATCTGCAGGAGGAGCCCCTGCAGACCTGCAGAGATTGCTGGGTAAACAAATACAGCCATGCCCTGTGTTTGCTATTACAGGTAAACCACAGGCGGAGGCCAAGAGGGCACAACGGAGGGAGGAAATTGTTCTAGAGAAATGCTCTAGAAAAGCATTTCACAGAGGGAACATTTGAGCTGGGTTCTGAAGGGTGAATAGGAGTTCACCAAGGAGAGGGCAAGAGATGTGTACACTCCCAGGCAGCCAGGGATAAATGCAATCAAGATGGACAGAGGGACGCACCATCACACTGCTGCAGGATCTCATCAGCGGTGGTGTCGTAGTGAGCCAGGGGGTTGCTGGCGTTGCGGTACTGCATAGAAAGAGAGCAGAGCCCGTGAGCTGACCCCTGACACCTCAGTCACCCCCACATCCCTGACCGAGACCCTCCTAGGGAATGCCTGTCTCCAGGCCCCAGGTGCCTCACCTGGTCTAGGATGTGAGAATTGGGGATTTCGTTCTTCAGCCGCCAGGCCACCCCCACGTGTGACTCCGGGGAGTCGAACCTGGCATTGGTGGGCGTCCTCACAATCTCAGCCCCCAGTGCCCGCAGCACGTCCACCTGCAGGAGGGAAAGCGGTGGCCTGCACCTTCCGCCTGGCCCAGGCACCCTCATCCCCTGCCCTATGACCCCGCCCCTGGCCACGCCCACCCACCTTCTCGGAGCTCATCTTCTCTGGCATCACGATGATGCAGCGATAGCCCCTCACTGCCGCAGCCAGGGCCAGCCCGATCCCTGAGGGCACACAGAGGGTGAGAGGGGCCCAGTGACCCCCCAAGCCCTGCCCCGCCCCTGCCTGGGACACAGGGGCACACCCCGATGCCGGTTCCCTTAGGGCCCAGGGAAGAGGGTTCTGTGGGATTCCAAAATTGCCCAACATGGCTGCTTCTGCCTTCAAGTGCAGGGGGAGAGAGGCTGCCAGAGGCAGAAATAAAAGGTACACGTCAAGGAGGAGGAGGCAGCGGCGCAGGACAGGAGATCTGGTTCCTCCAGGCCCAGCCGGGTACACAGGCACAGGAAGAGCAGACTCCGGGTGCTCGTCTTGTGTGCCAGGCACTGCCAGGTGCCATCGCCCCGAGAGCATCGGCACTGGCCCCGAATGCTGGTCAAAGGAAGCTAGGTTGGGACACAGGCCGGCAGCGGGTGCAAGATGCCAGGGAGCAGGCGGCCAGGCGGGCCAGCACATGCGGCTGCAGCTCAGCCATCCCCCCCGGGTCCCGGCAGGCTCGGCATGGGTAGGGGACAGCCAGCCCTGGCCACCCCCTCTGGGCCTGGCACCCACCGGTGTTCCCGGATGTCGGCTCGATAATCGTGTCCCCGGGCTTCAGCGTCCCGTCGCGCTCAGCATCCTCAATCATCCGCAGGCTGATGCGGTCCTTCACGCTCCCGCCCGCGTTGAAGAACTCACACTTGGCCACTGGGAGGCAGAGATGAATCACAGAGGGGACCCCCTGACCACCCCCCCATTGATTCCTGCTCACCCCCCCATTACCTGATACACCCCAGGGTGGGGGACGGGCTTGGGGGTCTGTGGGTTCTGAAAAATTGCCACCTCTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCTGGTGGCCTCCGGCAAGCCACGTGACCAACCTGACCCTCGGTGTGTCTGTCTGTAAAACGGGCATTCCAAAACCTACTTCAAGGGCAACCACCAAGTTTAGACGTCATCCTGTACGGAGCACAGTGAGCCAGCCACGCGTGCTGCGTACGAGTTAAGGGTCCCTATTGTCTGACAAATGAGCACAGAGCCGGCCCTGCTGCCTTGGGGGTCTCTGTGAAGGGGGCTGCTCTGCTGCAGCTCCGAGATCTCCTTCCCTAGAGGGGGGCAGAGGAGGGCCAGGCTCCCACGAGGCCCCTCCTGTGAATCGGCGATCGGTTCCCAACGCACCGACCCCTGACTTCCTTCCCCCAGCGCCTGCCCCAGCTCTCACAGGTCCCCCGGCTGGGACATTAGAGCATCTCAGGATGAAAAAGTCCCAAGCCATGTTACTGGTTCCCTCTCCTTCCCACTCGAACTCCACCCCCTCCATCTGGCCCTGTCGCGGGGTTCTCCGCGGCACCCTTCCTGCCTCCCTCCGAACTCACTTGGCCTTGGTCATCTGAAATACGAAATTCCGTCCCCGCCTTGTCCCCAAGGCCTCTGCACCCACAGCTTTCTCTGTGACGATGCTGAGGTCTACCAGGGCTCTGCGCTCTTGGTGAAGAGCGACCCTTAGGAATTCCCTCCACGTTCTTGAGCCTGGAAACTGCGTCCTGCAAAGAAATGCCCTTCCCCGGAGGCCTCAGACCACACCTCAGGTGACCCCCTGCGCACCCAGGACGAGGCCAGCCACAGACCCTCCAAATTCCCATTCTCTGTCTCATAAATGATGAGCTGAACTATCTGTCCCCACGAAGCTGGCAAGACAGAGGTAACCGCTCCCTGGACAGCGGGTGGCTCACAGCACGTGCTAGGACCCGTCCACTGCTCCTTAGCAGGCATGACGCTAACCCTCCCCACCTGCTTGCTTCTGCCTTTGACCCTCACCCGGCCCTTCACACCCTCGCTGCTTCCACTCCGGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCA
AGTCTTTGCTCAGTGACACTCGACCCCTAAAACCCCCATTTGGCTGGATGCAGAAAGACAGGACCCTGTCCGGGGGGTGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATTCCCAATAGGAAGCCAGGGCGCCAACCTCTTGGCAACTTATCTCTAAAGGGATCTCTTGGGAAAACCTCAGTACCAACCCCCACAGGCCTTGGCACCGAGTCCCTGGAAAAGGGCCCAAGGAGCCGGCCTCATGCTTGTAACAGAGAGTGAGCTCATCGCAGATGTCACCAGCTCTGTTCTGCAGATGAATTTGATGCCGAGTCAGGGCATGATCCCAAATGAAGTCCAAGCTGTGAGCCCAGCACCAGCCTGGGCCCTGAACAGACTCGCTGTCTGCATTATCTGCAGGAGGAGCCCCTGCAGACCTGCAGAGATTGCTGGGTAAACAAATACAGCCATGCCCTGTGTTTGCTATTACAGGTAAACCACAGGCGGAGGCCAAGAGGGCACAACGGAGGGAGGAAATTGTTCTAGAGAAATGCTCTAGAAAAGCATTTCACAGAGGGAACATTTGAGCTGGGTTCTGAAGGGTGAATAGGAGTTCACCAAGGAGAGGGCAAGAGATGTGTACACTCCCAGGCAGCCAGGGATAAATGCAATCAAGATGGACAGAGGGACGCACCATCACACTGCTGCAGGATCTCATCAGCGGTGGTGTCGTAGTGAGCCAGGGGGTTGCTGGCGTTGCGGTACTGCATAGAAAGAGAGCAGAGCCCGTGAGCTGACCCCTGACACCTCAGTCACCCCCACATCCCTGACCGAGACCCTCCTAGGGAATGCCTGTCTCCAGGCCCCAGGTGCCTCACCTGGTCTAGGATGTGAGAATTGGGGATTTCGTTCTTCAGCCGCCAGGCCACCCCCACGTGTGACTCCGGGGAGTCGAACCTGGCATTGGTGGGCGTCCTCACAATCTCAGCCCCCAGTGCCCGCAGCACGTCCACCTGCAGGAGGGAAAGCGGTGGCCTGCACCTTCCGCCTGGCCCAGGCACCCTCATCCCCTGCCCTATGACCCCGCCCCTGGCCACGCCCACCCACCTTCTCGGAGCTCATCTTCTCTGGCATCACGATGATGCAGCGATAGCCCCTCACTGCCGCAGCCAGGGCCAGCCCGATCCCTGAGGGCACACAGAGGGTGAGAGGGGCCCAGTGACCCCCCAAGCCCTGCCCCGCCCCTGCCTGGGACACAGGGGCACACCCCGATGCCGGTTCCCTTAGGGCCCAGGGAAGAGGGTTCTGTGGGATTCCAAAATTGCCCAACATGGCTGCTTCTGCCTTCAAGTGCAGGGGGAGAGAGGCTGCCAGAGGCAGAAATAAAAGGTACACGTCAAGGAGGAGGAGGCAGCGGCGCAGGACAGGAGATCTGGTTCCTCCAGGCCCAGCCGGGTACACAGGCACAGGAAGAGCAGACTCCGGGTGCTCGTCTTGTGTGCCAGGCACTGCCAGGTGCCATCGCCCCGAGAGCATCGGCACTGGCCCCGAATGCTGGTCAAAGGAAGCTAGGTTGGGACACAGGCCGGCAGCGGGTGCAAGATGCCAGGGAGCAGGCGGCCAGGCGGGCCAGCACATGCGGCTGCAGCTCAGCCATCCCCCCCGGGTCCCGGCAGGCTCGGCATGGGTAGGGGACAGCCAGCCCTGGCCACCCCCTCTGGGCCTGGCACCCACTGGTGTTCCCGGATGTCGGCTCGATAATCGTGTCCCCGGGCTTCAGCGTCCCGTCGCGCTCAGCATCCTCAATCATCCGCAGGCTGATGCGGTCCTTCACGCTCCCGCCCGCGTTGAAGAACTCACACTTGGCCACTGGGAGGCAGAGATGAATCACAGAGGGGACCCCCTGACCACCCCCCCATTGATTCCTGCTCACCCCCCCATTACCTGATACACCCCAGGGTGGGGGACGGGCTTGGGGGTCTGTGGGTTCTGAAAAATTGCCACCTCTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCTGGTGGCCTCCGGCAAGCCACGTGACCAACCTGACCCTCGGTGTGTCTGTCTGTAAAACGGGCATTCCAAAACCTACTTCAAGGGCAACCACCAAGTTTAGACGTCATCCTGTACGGAGCACAGTGAGCCAGCCACGCGTGCTGCGTACGAGTTAAGGGTCCCTATTGTCTGACAAATGAGCACAGAGCCGGCCCTGCTGCCTTGGGGGTCTCTGTGAAGGGGGCTGCTCTGCTGCAGCTCCGAGATCTCCTTCCCTAGAGGGGGGCAGAGGAGGGCCAGGCTCCCACGAGGCCCCTCCTGTGAATCGGCGATCGGTTCCCAACGCACCGACCCCTGACTTCCTTCCCCCAGCGCCTGCCCCAGCTCTCACAGGTCCCCCGGCTGGGACATTAGAGCATCTCAGGATGAAAAAGTCCCAAGCCATGTTACTGGTTCCCTCTCCTTCCCACTCGAACTCCACCCCCTCCATCTGGCCCTGTCGCGGGGTTCTCCGCGGCACCCTTCCTGCCTCCCTCCGAACTCACTTGGCCTTGGTCATCTGAAATACGAAATTCCGTCCCCGCCTTGTCCCCAAGGCCTCTGCACCCACAGCTTTCTCTGTGACGATGCTGAGGTCTACCAGGGCTCTGCGCTCTTGGTGAAGAGCGACCCTTAGGAATTCCCTCCACGTTCTTGAGCCTGGAAACTGCGTCCTGCAAAGAAATGCCCTTCCCCGGAGGCCTCAGACCACACCTCAGGTGACCCCCTGCGCACCCAGGACGAGGCCAGCCACAGACCCTCCAAATTCCCATTCTCTGTCTCATAAATGATGAGCTGAACTATCTGTCCCCACGAAGCTGGCAAGACAGAGGTAACCGCTCCCTGGACAGCGGGTGGCTCACAGCACGTGCTAGGACCCGTCCACTGCTCCTTAGCAGGCATGACGCTAACCCTCCCCACCTGCTTGCTTCTGCCTTTGACCCTCACCCGGCCCTTCACACCCTCGCTGCTTCCACTCCGGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCA
Task1_train_28416
Assess the clinical impact of this variant on gene CBS (cystathionine beta-synthase), found on Chromosome 21. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Classic homocystinuria
TGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATTCCCAATAGGAAGCCAGGGCGCCAACCTCTTGGCAACTTATCTCTAAAGGGATCTCTTGGGAAAACCTCAGTACCAACCCCCACAGGCCTTGGCACCGAGTCCCTGGAAAAGGGCCCAAGGAGCCGGCCTCATGCTTGTAACAGAGAGTGAGCTCATCGCAGATGTCACCAGCTCTGTTCTGCAGATGAATTTGATGCCGAGTCAGGGCATGATCCCAAATGAAGTCCAAGCTGTGAGCCCAGCACCAGCCTGGGCCCTGAACAGACTCGCTGTCTGCATTATCTGCAGGAGGAGCCCCTGCAGACCTGCAGAGATTGCTGGGTAAACAAATACAGCCATGCCCTGTGTTTGCTATTACAGGTAAACCACAGGCGGAGGCCAAGAGGGCACAACGGAGGGAGGAAATTGTTCTAGAGAAATGCTCTAGAAAAGCATTTCACAGAGGGAACATTTGAGCTGGGTTCTGAAGGGTGAATAGGAGTTCACCAAGGAGAGGGCAAGAGATGTGTACACTCCCAGGCAGCCAGGGATAAATGCAATCAAGATGGACAGAGGGACGCACCATCACACTGCTGCAGGATCTCATCAGCGGTGGTGTCGTAGTGAGCCAGGGGGTTGCTGGCGTTGCGGTACTGCATAGAAAGAGAGCAGAGCCCGTGAGCTGACCCCTGACACCTCAGTCACCCCCACATCCCTGACCGAGACCCTCCTAGGGAATGCCTGTCTCCAGGCCCCAGGTGCCTCACCTGGTCTAGGATGTGAGAATTGGGGATTTCGTTCTTCAGCCGCCAGGCCACCCCCACGTGTGACTCCGGGGAGTCGAACCTGGCATTGGTGGGCGTCCTCACAATCTCAGCCCCCAGTGCCCGCAGCACGTCCACCTGCAGGAGGGAAAGCGGTGGCCTGCACCTTCCGCCTGGCCCAGGCACCCTCATCCCCTGCCCTATGACCCCGCCCCTGGCCACGCCCACCCACCTTCTCGGAGCTCATCTTCTCTGGCATCACGATGATGCAGCGATAGCCCCTCACTGCCGCAGCCAGGGCCAGCCCGATCCCTGAGGGCACACAGAGGGTGAGAGGGGCCCAGTGACCCCCCAAGCCCTGCCCCGCCCCTGCCTGGGACACAGGGGCACACCCCGATGCCGGTTCCCTTAGGGCCCAGGGAAGAGGGTTCTGTGGGATTCCAAAATTGCCCAACATGGCTGCTTCTGCCTTCAAGTGCAGGGGGAGAGAGGCTGCCAGAGGCAGAAATAAAAGGTACACGTCAAGGAGGAGGAGGCAGCGGCGCAGGACAGGAGATCTGGTTCCTCCAGGCCCAGCCGGGTACACAGGCACAGGAAGAGCAGACTCCGGGTGCTCGTCTTGTGTGCCAGGCACTGCCAGGTGCCATCGCCCCGAGAGCATCGGCACTGGCCCCGAATGCTGGTCAAAGGAAGCTAGGTTGGGACACAGGCCGGCAGCGGGTGCAAGATGCCAGGGAGCAGGCGGCCAGGCGGGCCAGCACATGCGGCTGCAGCTCAGCCATCCCCCCCGGGTCCCGGCAGGCTCGGCATGGGTAGGGGACAGCCAGCCCTGGCCACCCCCTCTGGGCCTGGCACCCACCGGTGTTCCCGGATGTCGGCTCGATAATCGTGTCCCCGGGCTTCAGCGTCCCGTCGCGCTCAGCATCCTCAATCATCCGCAGGCTGATGCGGTCCTTCACGCTCCCGCCCGCGTTGAAGAACTCACACTTGGCCACTGGGAGGCAGAGATGAATCACAGAGGGGACCCCCTGACCACCCCCCCATTGATTCCTGCTCACCCCCCCATTACCTGATACACCCCAGGGTGGGGGACGGGCTTGGGGGTCTGTGGGTTCTGAAAAATTGCCACCTCTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCTGGTGGCCTCCGGCAAGCCACGTGACCAACCTGACCCTCGGTGTGTCTGTCTGTAAAACGGGCATTCCAAAACCTACTTCAAGGGCAACCACCAAGTTTAGACGTCATCCTGTACGGAGCACAGTGAGCCAGCCACGCGTGCTGCGTACGAGTTAAGGGTCCCTATTGTCTGACAAATGAGCACAGAGCCGGCCCTGCTGCCTTGGGGGTCTCTGTGAAGGGGGCTGCTCTGCTGCAGCTCCGAGATCTCCTTCCCTAGAGGGGGGCAGAGGAGGGCCAGGCTCCCACGAGGCCCCTCCTGTGAATCGGCGATCGGTTCCCAACGCACCGACCCCTGACTTCCTTCCCCCAGCGCCTGCCCCAGCTCTCACAGGTCCCCCGGCTGGGACATTAGAGCATCTCAGGATGAAAAAGTCCCAAGCCATGTTACTGGTTCCCTCTCCTTCCCACTCGAACTCCACCCCCTCCATCTGGCCCTGTCGCGGGGTTCTCCGCGGCACCCTTCCTGCCTCCCTCCGAACTCACTTGGCCTTGGTCATCTGAAATACGAAATTCCGTCCCCGCCTTGTCCCCAAGGCCTCTGCACCCACAGCTTTCTCTGTGACGATGCTGAGGTCTACCAGGGCTCTGCGCTCTTGGTGAAGAGCGACCCTTAGGAATTCCCTCCACGTTCTTGAGCCTGGAAACTGCGTCCTGCAAAGAAATGCCCTTCCCCGGAGGCCTCAGACCACACCTCAGGTGACCCCCTGCGCACCCAGGACGAGGCCAGCCACAGACCCTCCAAATTCCCATTCTCTGTCTCATAAATGATGAGCTGAACTATCTGTCCCCACGAAGCTGGCAAGACAGAGGTAACCGCTCCCTGGACAGCGGGTGGCTCACAGCACGTGCTAGGACCCGTCCACTGCTCCTTAGCAGGCATGACGCTAACCCTCCCCACCTGCTTGCTTCTGCCTTTGACCCTCACCCGGCCCTTCACACCCTCGCTGCTTCCACTCCGGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCATCTGCTGGGGAGTCACTTTGGTCACCCTCTGACACAATGCCCTGTTGTGTGTTTTTCCCAAACTTAAGCTGATATGT
TGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATTCCCAATAGGAAGCCAGGGCGCCAACCTCTTGGCAACTTATCTCTAAAGGGATCTCTTGGGAAAACCTCAGTACCAACCCCCACAGGCCTTGGCACCGAGTCCCTGGAAAAGGGCCCAAGGAGCCGGCCTCATGCTTGTAACAGAGAGTGAGCTCATCGCAGATGTCACCAGCTCTGTTCTGCAGATGAATTTGATGCCGAGTCAGGGCATGATCCCAAATGAAGTCCAAGCTGTGAGCCCAGCACCAGCCTGGGCCCTGAACAGACTCGCTGTCTGCATTATCTGCAGGAGGAGCCCCTGCAGACCTGCAGAGATTGCTGGGTAAACAAATACAGCCATGCCCTGTGTTTGCTATTACAGGTAAACCACAGGCGGAGGCCAAGAGGGCACAACGGAGGGAGGAAATTGTTCTAGAGAAATGCTCTAGAAAAGCATTTCACAGAGGGAACATTTGAGCTGGGTTCTGAAGGGTGAATAGGAGTTCACCAAGGAGAGGGCAAGAGATGTGTACACTCCCAGGCAGCCAGGGATAAATGCAATCAAGATGGACAGAGGGACGCACCATCACACTGCTGCAGGATCTCATCAGCGGTGGTGTCGTAGTGAGCCAGGGGGTTGCTGGCGTTGCGGTACTGCATAGAAAGAGAGCAGAGCCCGTGAGCTGACCCCTGACACCTCAGTCACCCCCACATCCCTGACCGAGACCCTCCTAGGGAATGCCTGTCTCCAGGCCCCAGGTGCCTCACCTGGTCTAGGATGTGAGAATTGGGGATTTCGTTCTTCAGCCGCCAGGCCACCCCCACGTGTGACTCCGGGGAGTCGAACCTGGCATTGGTGGGCGTCCTCACAATCTCAGCCCCCAGTGCCCGCAGCACGTCCACCTGCAGGAGGGAAAGCGGTGGCCTGCACCTTCCGCCTGGCCCAGGCACCCTCATCCCCTGCCCTATGACCCCGCCCCTGGCCACGCCCACCCACCTTCTCGGAGCTCATCTTCTCTGGCATCACGATGATGCAGCGATAGCCCCTCACTGCCGCAGCCAGGGCCAGCCCGATCCCTGAGGGCACACAGAGGGTGAGAGGGGCCCAGTGACCCCCCAAGCCCTGCCCCGCCCCTGCCTGGGACACAGGGGCACACCCCGATGCCGGTTCCCTTAGGGCCCAGGGAAGAGGGTTCTGTGGGATTCCAAAATTGCCCAACATGGCTGCTTCTGCCTTCAAGTGCAGGGGGAGAGAGGCTGCCAGAGGCAGAAATAAAAGGTACACGTCAAGGAGGAGGAGGCAGCGGCGCAGGACAGGAGATCTGGTTCCTCCAGGCCCAGCCGGGTACACAGGCACAGGAAGAGCAGACTCCGGGTGCTCGTCTTGTGTGCCAGGCACTGCCAGGTGCCATCGCCCCGAGAGCATCGGCACTGGCCCCGAATGCTGGTCAAAGGAAGCTAGGTTGGGACACAGGCCGGCAGCGGGTGCAAGATGCCAGGGAGCAGGCGGCCAGGCGGGCCAGCACATGCGGCTGCAGCTCAGCCATCCCCCCCGGGTCCCGGCAGGCTCGGCATGGGTAGGGGACAGCCAGCCCTGGCCACCCCCTCTGGGCCTGGCACCCACCGGTGTTCCCGGATGTCGGCTCGATAATCGTGTCCCCGGGCTTCAGCGTCCCGTCGCGCTCAGCATCCTCAATCATCTGCAGGCTGATGCGGTCCTTCACGCTCCCGCCCGCGTTGAAGAACTCACACTTGGCCACTGGGAGGCAGAGATGAATCACAGAGGGGACCCCCTGACCACCCCCCCATTGATTCCTGCTCACCCCCCCATTACCTGATACACCCCAGGGTGGGGGACGGGCTTGGGGGTCTGTGGGTTCTGAAAAATTGCCACCTCTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCTGGTGGCCTCCGGCAAGCCACGTGACCAACCTGACCCTCGGTGTGTCTGTCTGTAAAACGGGCATTCCAAAACCTACTTCAAGGGCAACCACCAAGTTTAGACGTCATCCTGTACGGAGCACAGTGAGCCAGCCACGCGTGCTGCGTACGAGTTAAGGGTCCCTATTGTCTGACAAATGAGCACAGAGCCGGCCCTGCTGCCTTGGGGGTCTCTGTGAAGGGGGCTGCTCTGCTGCAGCTCCGAGATCTCCTTCCCTAGAGGGGGGCAGAGGAGGGCCAGGCTCCCACGAGGCCCCTCCTGTGAATCGGCGATCGGTTCCCAACGCACCGACCCCTGACTTCCTTCCCCCAGCGCCTGCCCCAGCTCTCACAGGTCCCCCGGCTGGGACATTAGAGCATCTCAGGATGAAAAAGTCCCAAGCCATGTTACTGGTTCCCTCTCCTTCCCACTCGAACTCCACCCCCTCCATCTGGCCCTGTCGCGGGGTTCTCCGCGGCACCCTTCCTGCCTCCCTCCGAACTCACTTGGCCTTGGTCATCTGAAATACGAAATTCCGTCCCCGCCTTGTCCCCAAGGCCTCTGCACCCACAGCTTTCTCTGTGACGATGCTGAGGTCTACCAGGGCTCTGCGCTCTTGGTGAAGAGCGACCCTTAGGAATTCCCTCCACGTTCTTGAGCCTGGAAACTGCGTCCTGCAAAGAAATGCCCTTCCCCGGAGGCCTCAGACCACACCTCAGGTGACCCCCTGCGCACCCAGGACGAGGCCAGCCACAGACCCTCCAAATTCCCATTCTCTGTCTCATAAATGATGAGCTGAACTATCTGTCCCCACGAAGCTGGCAAGACAGAGGTAACCGCTCCCTGGACAGCGGGTGGCTCACAGCACGTGCTAGGACCCGTCCACTGCTCCTTAGCAGGCATGACGCTAACCCTCCCCACCTGCTTGCTTCTGCCTTTGACCCTCACCCGGCCCTTCACACCCTCGCTGCTTCCACTCCGGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCATCTGCTGGGGAGTCACTTTGGTCACCCTCTGACACAATGCCCTGTTGTGTGTTTTTCCCAAACTTAAGCTGATATGT
Task1_train_28417
This mutation is located in gene CBS (cystathionine beta-synthase) on Chromosome 21. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Familial thoracic aortic aneurysm and aortic dissection
TGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATTCCCAATAGGAAGCCAGGGCGCCAACCTCTTGGCAACTTATCTCTAAAGGGATCTCTTGGGAAAACCTCAGTACCAACCCCCACAGGCCTTGGCACCGAGTCCCTGGAAAAGGGCCCAAGGAGCCGGCCTCATGCTTGTAACAGAGAGTGAGCTCATCGCAGATGTCACCAGCTCTGTTCTGCAGATGAATTTGATGCCGAGTCAGGGCATGATCCCAAATGAAGTCCAAGCTGTGAGCCCAGCACCAGCCTGGGCCCTGAACAGACTCGCTGTCTGCATTATCTGCAGGAGGAGCCCCTGCAGACCTGCAGAGATTGCTGGGTAAACAAATACAGCCATGCCCTGTGTTTGCTATTACAGGTAAACCACAGGCGGAGGCCAAGAGGGCACAACGGAGGGAGGAAATTGTTCTAGAGAAATGCTCTAGAAAAGCATTTCACAGAGGGAACATTTGAGCTGGGTTCTGAAGGGTGAATAGGAGTTCACCAAGGAGAGGGCAAGAGATGTGTACACTCCCAGGCAGCCAGGGATAAATGCAATCAAGATGGACAGAGGGACGCACCATCACACTGCTGCAGGATCTCATCAGCGGTGGTGTCGTAGTGAGCCAGGGGGTTGCTGGCGTTGCGGTACTGCATAGAAAGAGAGCAGAGCCCGTGAGCTGACCCCTGACACCTCAGTCACCCCCACATCCCTGACCGAGACCCTCCTAGGGAATGCCTGTCTCCAGGCCCCAGGTGCCTCACCTGGTCTAGGATGTGAGAATTGGGGATTTCGTTCTTCAGCCGCCAGGCCACCCCCACGTGTGACTCCGGGGAGTCGAACCTGGCATTGGTGGGCGTCCTCACAATCTCAGCCCCCAGTGCCCGCAGCACGTCCACCTGCAGGAGGGAAAGCGGTGGCCTGCACCTTCCGCCTGGCCCAGGCACCCTCATCCCCTGCCCTATGACCCCGCCCCTGGCCACGCCCACCCACCTTCTCGGAGCTCATCTTCTCTGGCATCACGATGATGCAGCGATAGCCCCTCACTGCCGCAGCCAGGGCCAGCCCGATCCCTGAGGGCACACAGAGGGTGAGAGGGGCCCAGTGACCCCCCAAGCCCTGCCCCGCCCCTGCCTGGGACACAGGGGCACACCCCGATGCCGGTTCCCTTAGGGCCCAGGGAAGAGGGTTCTGTGGGATTCCAAAATTGCCCAACATGGCTGCTTCTGCCTTCAAGTGCAGGGGGAGAGAGGCTGCCAGAGGCAGAAATAAAAGGTACACGTCAAGGAGGAGGAGGCAGCGGCGCAGGACAGGAGATCTGGTTCCTCCAGGCCCAGCCGGGTACACAGGCACAGGAAGAGCAGACTCCGGGTGCTCGTCTTGTGTGCCAGGCACTGCCAGGTGCCATCGCCCCGAGAGCATCGGCACTGGCCCCGAATGCTGGTCAAAGGAAGCTAGGTTGGGACACAGGCCGGCAGCGGGTGCAAGATGCCAGGGAGCAGGCGGCCAGGCGGGCCAGCACATGCGGCTGCAGCTCAGCCATCCCCCCCGGGTCCCGGCAGGCTCGGCATGGGTAGGGGACAGCCAGCCCTGGCCACCCCCTCTGGGCCTGGCACCCACCGGTGTTCCCGGATGTCGGCTCGATAATCGTGTCCCCGGGCTTCAGCGTCCCGTCGCGCTCAGCATCCTCAATCATCCGCAGGCTGATGCGGTCCTTCACGCTCCCGCCCGCGTTGAAGAACTCACACTTGGCCACTGGGAGGCAGAGATGAATCACAGAGGGGACCCCCTGACCACCCCCCCATTGATTCCTGCTCACCCCCCCATTACCTGATACACCCCAGGGTGGGGGACGGGCTTGGGGGTCTGTGGGTTCTGAAAAATTGCCACCTCTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCTGGTGGCCTCCGGCAAGCCACGTGACCAACCTGACCCTCGGTGTGTCTGTCTGTAAAACGGGCATTCCAAAACCTACTTCAAGGGCAACCACCAAGTTTAGACGTCATCCTGTACGGAGCACAGTGAGCCAGCCACGCGTGCTGCGTACGAGTTAAGGGTCCCTATTGTCTGACAAATGAGCACAGAGCCGGCCCTGCTGCCTTGGGGGTCTCTGTGAAGGGGGCTGCTCTGCTGCAGCTCCGAGATCTCCTTCCCTAGAGGGGGGCAGAGGAGGGCCAGGCTCCCACGAGGCCCCTCCTGTGAATCGGCGATCGGTTCCCAACGCACCGACCCCTGACTTCCTTCCCCCAGCGCCTGCCCCAGCTCTCACAGGTCCCCCGGCTGGGACATTAGAGCATCTCAGGATGAAAAAGTCCCAAGCCATGTTACTGGTTCCCTCTCCTTCCCACTCGAACTCCACCCCCTCCATCTGGCCCTGTCGCGGGGTTCTCCGCGGCACCCTTCCTGCCTCCCTCCGAACTCACTTGGCCTTGGTCATCTGAAATACGAAATTCCGTCCCCGCCTTGTCCCCAAGGCCTCTGCACCCACAGCTTTCTCTGTGACGATGCTGAGGTCTACCAGGGCTCTGCGCTCTTGGTGAAGAGCGACCCTTAGGAATTCCCTCCACGTTCTTGAGCCTGGAAACTGCGTCCTGCAAAGAAATGCCCTTCCCCGGAGGCCTCAGACCACACCTCAGGTGACCCCCTGCGCACCCAGGACGAGGCCAGCCACAGACCCTCCAAATTCCCATTCTCTGTCTCATAAATGATGAGCTGAACTATCTGTCCCCACGAAGCTGGCAAGACAGAGGTAACCGCTCCCTGGACAGCGGGTGGCTCACAGCACGTGCTAGGACCCGTCCACTGCTCCTTAGCAGGCATGACGCTAACCCTCCCCACCTGCTTGCTTCTGCCTTTGACCCTCACCCGGCCCTTCACACCCTCGCTGCTTCCACTCCGGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCATCTGCTGGGGAGTCACTTTGGTCACCCTCTGACACAATGCCCTGTTGTGTGTTTTTCCCAAACTTAAGCTGATATGT
TGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATTCCCAATAGGAAGCCAGGGCGCCAACCTCTTGGCAACTTATCTCTAAAGGGATCTCTTGGGAAAACCTCAGTACCAACCCCCACAGGCCTTGGCACCGAGTCCCTGGAAAAGGGCCCAAGGAGCCGGCCTCATGCTTGTAACAGAGAGTGAGCTCATCGCAGATGTCACCAGCTCTGTTCTGCAGATGAATTTGATGCCGAGTCAGGGCATGATCCCAAATGAAGTCCAAGCTGTGAGCCCAGCACCAGCCTGGGCCCTGAACAGACTCGCTGTCTGCATTATCTGCAGGAGGAGCCCCTGCAGACCTGCAGAGATTGCTGGGTAAACAAATACAGCCATGCCCTGTGTTTGCTATTACAGGTAAACCACAGGCGGAGGCCAAGAGGGCACAACGGAGGGAGGAAATTGTTCTAGAGAAATGCTCTAGAAAAGCATTTCACAGAGGGAACATTTGAGCTGGGTTCTGAAGGGTGAATAGGAGTTCACCAAGGAGAGGGCAAGAGATGTGTACACTCCCAGGCAGCCAGGGATAAATGCAATCAAGATGGACAGAGGGACGCACCATCACACTGCTGCAGGATCTCATCAGCGGTGGTGTCGTAGTGAGCCAGGGGGTTGCTGGCGTTGCGGTACTGCATAGAAAGAGAGCAGAGCCCGTGAGCTGACCCCTGACACCTCAGTCACCCCCACATCCCTGACCGAGACCCTCCTAGGGAATGCCTGTCTCCAGGCCCCAGGTGCCTCACCTGGTCTAGGATGTGAGAATTGGGGATTTCGTTCTTCAGCCGCCAGGCCACCCCCACGTGTGACTCCGGGGAGTCGAACCTGGCATTGGTGGGCGTCCTCACAATCTCAGCCCCCAGTGCCCGCAGCACGTCCACCTGCAGGAGGGAAAGCGGTGGCCTGCACCTTCCGCCTGGCCCAGGCACCCTCATCCCCTGCCCTATGACCCCGCCCCTGGCCACGCCCACCCACCTTCTCGGAGCTCATCTTCTCTGGCATCACGATGATGCAGCGATAGCCCCTCACTGCCGCAGCCAGGGCCAGCCCGATCCCTGAGGGCACACAGAGGGTGAGAGGGGCCCAGTGACCCCCCAAGCCCTGCCCCGCCCCTGCCTGGGACACAGGGGCACACCCCGATGCCGGTTCCCTTAGGGCCCAGGGAAGAGGGTTCTGTGGGATTCCAAAATTGCCCAACATGGCTGCTTCTGCCTTCAAGTGCAGGGGGAGAGAGGCTGCCAGAGGCAGAAATAAAAGGTACACGTCAAGGAGGAGGAGGCAGCGGCGCAGGACAGGAGATCTGGTTCCTCCAGGCCCAGCCGGGTACACAGGCACAGGAAGAGCAGACTCCGGGTGCTCGTCTTGTGTGCCAGGCACTGCCAGGTGCCATCGCCCCGAGAGCATCGGCACTGGCCCCGAATGCTGGTCAAAGGAAGCTAGGTTGGGACACAGGCCGGCAGCGGGTGCAAGATGCCAGGGAGCAGGCGGCCAGGCGGGCCAGCACATGCGGCTGCAGCTCAGCCATCCCCCCCGGGTCCCGGCAGGCTCGGCATGGGTAGGGGACAGCCAGCCCTGGCCACCCCCTCTGGGCCTGGCACCCACCGGTGTTCCCGGATGTCGGCTCGATAATCGTGTCCCCGGGCTTCAGCGTCCCGTCGCGCTCAGCATCCTCAATCATCTGCAGGCTGATGCGGTCCTTCACGCTCCCGCCCGCGTTGAAGAACTCACACTTGGCCACTGGGAGGCAGAGATGAATCACAGAGGGGACCCCCTGACCACCCCCCCATTGATTCCTGCTCACCCCCCCATTACCTGATACACCCCAGGGTGGGGGACGGGCTTGGGGGTCTGTGGGTTCTGAAAAATTGCCACCTCTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCTGGTGGCCTCCGGCAAGCCACGTGACCAACCTGACCCTCGGTGTGTCTGTCTGTAAAACGGGCATTCCAAAACCTACTTCAAGGGCAACCACCAAGTTTAGACGTCATCCTGTACGGAGCACAGTGAGCCAGCCACGCGTGCTGCGTACGAGTTAAGGGTCCCTATTGTCTGACAAATGAGCACAGAGCCGGCCCTGCTGCCTTGGGGGTCTCTGTGAAGGGGGCTGCTCTGCTGCAGCTCCGAGATCTCCTTCCCTAGAGGGGGGCAGAGGAGGGCCAGGCTCCCACGAGGCCCCTCCTGTGAATCGGCGATCGGTTCCCAACGCACCGACCCCTGACTTCCTTCCCCCAGCGCCTGCCCCAGCTCTCACAGGTCCCCCGGCTGGGACATTAGAGCATCTCAGGATGAAAAAGTCCCAAGCCATGTTACTGGTTCCCTCTCCTTCCCACTCGAACTCCACCCCCTCCATCTGGCCCTGTCGCGGGGTTCTCCGCGGCACCCTTCCTGCCTCCCTCCGAACTCACTTGGCCTTGGTCATCTGAAATACGAAATTCCGTCCCCGCCTTGTCCCCAAGGCCTCTGCACCCACAGCTTTCTCTGTGACGATGCTGAGGTCTACCAGGGCTCTGCGCTCTTGGTGAAGAGCGACCCTTAGGAATTCCCTCCACGTTCTTGAGCCTGGAAACTGCGTCCTGCAAAGAAATGCCCTTCCCCGGAGGCCTCAGACCACACCTCAGGTGACCCCCTGCGCACCCAGGACGAGGCCAGCCACAGACCCTCCAAATTCCCATTCTCTGTCTCATAAATGATGAGCTGAACTATCTGTCCCCACGAAGCTGGCAAGACAGAGGTAACCGCTCCCTGGACAGCGGGTGGCTCACAGCACGTGCTAGGACCCGTCCACTGCTCCTTAGCAGGCATGACGCTAACCCTCCCCACCTGCTTGCTTCTGCCTTTGACCCTCACCCGGCCCTTCACACCCTCGCTGCTTCCACTCCGGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCATCTGCTGGGGAGTCACTTTGGTCACCCTCTGACACAATGCCCTGTTGTGTGTTTTTCCCAAACTTAAGCTGATATGT
Task1_train_28418
The gene CBS (cystathionine beta-synthase) is located on Chromosome 21, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
TGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATTCCCAATAGGAAGCCAGGGCGCCAACCTCTTGGCAACTTATCTCTAAAGGGATCTCTTGGGAAAACCTCAGTACCAACCCCCACAGGCCTTGGCACCGAGTCCCTGGAAAAGGGCCCAAGGAGCCGGCCTCATGCTTGTAACAGAGAGTGAGCTCATCGCAGATGTCACCAGCTCTGTTCTGCAGATGAATTTGATGCCGAGTCAGGGCATGATCCCAAATGAAGTCCAAGCTGTGAGCCCAGCACCAGCCTGGGCCCTGAACAGACTCGCTGTCTGCATTATCTGCAGGAGGAGCCCCTGCAGACCTGCAGAGATTGCTGGGTAAACAAATACAGCCATGCCCTGTGTTTGCTATTACAGGTAAACCACAGGCGGAGGCCAAGAGGGCACAACGGAGGGAGGAAATTGTTCTAGAGAAATGCTCTAGAAAAGCATTTCACAGAGGGAACATTTGAGCTGGGTTCTGAAGGGTGAATAGGAGTTCACCAAGGAGAGGGCAAGAGATGTGTACACTCCCAGGCAGCCAGGGATAAATGCAATCAAGATGGACAGAGGGACGCACCATCACACTGCTGCAGGATCTCATCAGCGGTGGTGTCGTAGTGAGCCAGGGGGTTGCTGGCGTTGCGGTACTGCATAGAAAGAGAGCAGAGCCCGTGAGCTGACCCCTGACACCTCAGTCACCCCCACATCCCTGACCGAGACCCTCCTAGGGAATGCCTGTCTCCAGGCCCCAGGTGCCTCACCTGGTCTAGGATGTGAGAATTGGGGATTTCGTTCTTCAGCCGCCAGGCCACCCCCACGTGTGACTCCGGGGAGTCGAACCTGGCATTGGTGGGCGTCCTCACAATCTCAGCCCCCAGTGCCCGCAGCACGTCCACCTGCAGGAGGGAAAGCGGTGGCCTGCACCTTCCGCCTGGCCCAGGCACCCTCATCCCCTGCCCTATGACCCCGCCCCTGGCCACGCCCACCCACCTTCTCGGAGCTCATCTTCTCTGGCATCACGATGATGCAGCGATAGCCCCTCACTGCCGCAGCCAGGGCCAGCCCGATCCCTGAGGGCACACAGAGGGTGAGAGGGGCCCAGTGACCCCCCAAGCCCTGCCCCGCCCCTGCCTGGGACACAGGGGCACACCCCGATGCCGGTTCCCTTAGGGCCCAGGGAAGAGGGTTCTGTGGGATTCCAAAATTGCCCAACATGGCTGCTTCTGCCTTCAAGTGCAGGGGGAGAGAGGCTGCCAGAGGCAGAAATAAAAGGTACACGTCAAGGAGGAGGAGGCAGCGGCGCAGGACAGGAGATCTGGTTCCTCCAGGCCCAGCCGGGTACACAGGCACAGGAAGAGCAGACTCCGGGTGCTCGTCTTGTGTGCCAGGCACTGCCAGGTGCCATCGCCCCGAGAGCATCGGCACTGGCCCCGAATGCTGGTCAAAGGAAGCTAGGTTGGGACACAGGCCGGCAGCGGGTGCAAGATGCCAGGGAGCAGGCGGCCAGGCGGGCCAGCACATGCGGCTGCAGCTCAGCCATCCCCCCCGGGTCCCGGCAGGCTCGGCATGGGTAGGGGACAGCCAGCCCTGGCCACCCCCTCTGGGCCTGGCACCCACCGGTGTTCCCGGATGTCGGCTCGATAATCGTGTCCCCGGGCTTCAGCGTCCCGTCGCGCTCAGCATCCTCAATCATCCGCAGGCTGATGCGGTCCTTCACGCTCCCGCCCGCGTTGAAGAACTCACACTTGGCCACTGGGAGGCAGAGATGAATCACAGAGGGGACCCCCTGACCACCCCCCCATTGATTCCTGCTCACCCCCCCATTACCTGATACACCCCAGGGTGGGGGACGGGCTTGGGGGTCTGTGGGTTCTGAAAAATTGCCACCTCTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCTGGTGGCCTCCGGCAAGCCACGTGACCAACCTGACCCTCGGTGTGTCTGTCTGTAAAACGGGCATTCCAAAACCTACTTCAAGGGCAACCACCAAGTTTAGACGTCATCCTGTACGGAGCACAGTGAGCCAGCCACGCGTGCTGCGTACGAGTTAAGGGTCCCTATTGTCTGACAAATGAGCACAGAGCCGGCCCTGCTGCCTTGGGGGTCTCTGTGAAGGGGGCTGCTCTGCTGCAGCTCCGAGATCTCCTTCCCTAGAGGGGGGCAGAGGAGGGCCAGGCTCCCACGAGGCCCCTCCTGTGAATCGGCGATCGGTTCCCAACGCACCGACCCCTGACTTCCTTCCCCCAGCGCCTGCCCCAGCTCTCACAGGTCCCCCGGCTGGGACATTAGAGCATCTCAGGATGAAAAAGTCCCAAGCCATGTTACTGGTTCCCTCTCCTTCCCACTCGAACTCCACCCCCTCCATCTGGCCCTGTCGCGGGGTTCTCCGCGGCACCCTTCCTGCCTCCCTCCGAACTCACTTGGCCTTGGTCATCTGAAATACGAAATTCCGTCCCCGCCTTGTCCCCAAGGCCTCTGCACCCACAGCTTTCTCTGTGACGATGCTGAGGTCTACCAGGGCTCTGCGCTCTTGGTGAAGAGCGACCCTTAGGAATTCCCTCCACGTTCTTGAGCCTGGAAACTGCGTCCTGCAAAGAAATGCCCTTCCCCGGAGGCCTCAGACCACACCTCAGGTGACCCCCTGCGCACCCAGGACGAGGCCAGCCACAGACCCTCCAAATTCCCATTCTCTGTCTCATAAATGATGAGCTGAACTATCTGTCCCCACGAAGCTGGCAAGACAGAGGTAACCGCTCCCTGGACAGCGGGTGGCTCACAGCACGTGCTAGGACCCGTCCACTGCTCCTTAGCAGGCATGACGCTAACCCTCCCCACCTGCTTGCTTCTGCCTTTGACCCTCACCCGGCCCTTCACACCCTCGCTGCTTCCACTCCGGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCATCTGCTGGGGAGTCACTTTGGTCACCCTCTGACACAATGCCCTGTTGTGTGTTTTTCCCAAACTTAAGCTGATATGT
TGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATTCCCAATAGGAAGCCAGGGCGCCAACCTCTTGGCAACTTATCTCTAAAGGGATCTCTTGGGAAAACCTCAGTACCAACCCCCACAGGCCTTGGCACCGAGTCCCTGGAAAAGGGCCCAAGGAGCCGGCCTCATGCTTGTAACAGAGAGTGAGCTCATCGCAGATGTCACCAGCTCTGTTCTGCAGATGAATTTGATGCCGAGTCAGGGCATGATCCCAAATGAAGTCCAAGCTGTGAGCCCAGCACCAGCCTGGGCCCTGAACAGACTCGCTGTCTGCATTATCTGCAGGAGGAGCCCCTGCAGACCTGCAGAGATTGCTGGGTAAACAAATACAGCCATGCCCTGTGTTTGCTATTACAGGTAAACCACAGGCGGAGGCCAAGAGGGCACAACGGAGGGAGGAAATTGTTCTAGAGAAATGCTCTAGAAAAGCATTTCACAGAGGGAACATTTGAGCTGGGTTCTGAAGGGTGAATAGGAGTTCACCAAGGAGAGGGCAAGAGATGTGTACACTCCCAGGCAGCCAGGGATAAATGCAATCAAGATGGACAGAGGGACGCACCATCACACTGCTGCAGGATCTCATCAGCGGTGGTGTCGTAGTGAGCCAGGGGGTTGCTGGCGTTGCGGTACTGCATAGAAAGAGAGCAGAGCCCGTGAGCTGACCCCTGACACCTCAGTCACCCCCACATCCCTGACCGAGACCCTCCTAGGGAATGCCTGTCTCCAGGCCCCAGGTGCCTCACCTGGTCTAGGATGTGAGAATTGGGGATTTCGTTCTTCAGCCGCCAGGCCACCCCCACGTGTGACTCCGGGGAGTCGAACCTGGCATTGGTGGGCGTCCTCACAATCTCAGCCCCCAGTGCCCGCAGCACGTCCACCTGCAGGAGGGAAAGCGGTGGCCTGCACCTTCCGCCTGGCCCAGGCACCCTCATCCCCTGCCCTATGACCCCGCCCCTGGCCACGCCCACCCACCTTCTCGGAGCTCATCTTCTCTGGCATCACGATGATGCAGCGATAGCCCCTCACTGCCGCAGCCAGGGCCAGCCCGATCCCTGAGGGCACACAGAGGGTGAGAGGGGCCCAGTGACCCCCCAAGCCCTGCCCCGCCCCTGCCTGGGACACAGGGGCACACCCCGATGCCGGTTCCCTTAGGGCCCAGGGAAGAGGGTTCTGTGGGATTCCAAAATTGCCCAACATGGCTGCTTCTGCCTTCAAGTGCAGGGGGAGAGAGGCTGCCAGAGGCAGAAATAAAAGGTACACGTCAAGGAGGAGGAGGCAGCGGCGCAGGACAGGAGATCTGGTTCCTCCAGGCCCAGCCGGGTACACAGGCACAGGAAGAGCAGACTCCGGGTGCTCGTCTTGTGTGCCAGGCACTGCCAGGTGCCATCGCCCCGAGAGCATCGGCACTGGCCCCGAATGCTGGTCAAAGGAAGCTAGGTTGGGACACAGGCCGGCAGCGGGTGCAAGATGCCAGGGAGCAGGCGGCCAGGCGGGCCAGCACATGCGGCTGCAGCTCAGCCATCCCCCCCGGGTCCCGGCAGGCTCGGCATGGGTAGGGGACAGCCAGCCCTGGCCACCCCCTCTGGGCCTGGCACCCACCGGTGTTCCCGGATGTCGGCTCGATAATCGTGTCCCCGGGCTTCAGCGTCCCGTCGCGCTCAGCATCCTCAATCATCTGCAGGCTGATGCGGTCCTTCACGCTCCCGCCCGCGTTGAAGAACTCACACTTGGCCACTGGGAGGCAGAGATGAATCACAGAGGGGACCCCCTGACCACCCCCCCATTGATTCCTGCTCACCCCCCCATTACCTGATACACCCCAGGGTGGGGGACGGGCTTGGGGGTCTGTGGGTTCTGAAAAATTGCCACCTCTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCTGGTGGCCTCCGGCAAGCCACGTGACCAACCTGACCCTCGGTGTGTCTGTCTGTAAAACGGGCATTCCAAAACCTACTTCAAGGGCAACCACCAAGTTTAGACGTCATCCTGTACGGAGCACAGTGAGCCAGCCACGCGTGCTGCGTACGAGTTAAGGGTCCCTATTGTCTGACAAATGAGCACAGAGCCGGCCCTGCTGCCTTGGGGGTCTCTGTGAAGGGGGCTGCTCTGCTGCAGCTCCGAGATCTCCTTCCCTAGAGGGGGGCAGAGGAGGGCCAGGCTCCCACGAGGCCCCTCCTGTGAATCGGCGATCGGTTCCCAACGCACCGACCCCTGACTTCCTTCCCCCAGCGCCTGCCCCAGCTCTCACAGGTCCCCCGGCTGGGACATTAGAGCATCTCAGGATGAAAAAGTCCCAAGCCATGTTACTGGTTCCCTCTCCTTCCCACTCGAACTCCACCCCCTCCATCTGGCCCTGTCGCGGGGTTCTCCGCGGCACCCTTCCTGCCTCCCTCCGAACTCACTTGGCCTTGGTCATCTGAAATACGAAATTCCGTCCCCGCCTTGTCCCCAAGGCCTCTGCACCCACAGCTTTCTCTGTGACGATGCTGAGGTCTACCAGGGCTCTGCGCTCTTGGTGAAGAGCGACCCTTAGGAATTCCCTCCACGTTCTTGAGCCTGGAAACTGCGTCCTGCAAAGAAATGCCCTTCCCCGGAGGCCTCAGACCACACCTCAGGTGACCCCCTGCGCACCCAGGACGAGGCCAGCCACAGACCCTCCAAATTCCCATTCTCTGTCTCATAAATGATGAGCTGAACTATCTGTCCCCACGAAGCTGGCAAGACAGAGGTAACCGCTCCCTGGACAGCGGGTGGCTCACAGCACGTGCTAGGACCCGTCCACTGCTCCTTAGCAGGCATGACGCTAACCCTCCCCACCTGCTTGCTTCTGCCTTTGACCCTCACCCGGCCCTTCACACCCTCGCTGCTTCCACTCCGGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCATCTGCTGGGGAGTCACTTTGGTCACCCTCTGACACAATGCCCTGTTGTGTGTTTTTCCCAAACTTAAGCTGATATGT
Task1_train_28419
A genomic change on Chromosome 21 affects CBS (cystathionine beta-synthase). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Homocystinuria
TGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATTCCCAATAGGAAGCCAGGGCGCCAACCTCTTGGCAACTTATCTCTAAAGGGATCTCTTGGGAAAACCTCAGTACCAACCCCCACAGGCCTTGGCACCGAGTCCCTGGAAAAGGGCCCAAGGAGCCGGCCTCATGCTTGTAACAGAGAGTGAGCTCATCGCAGATGTCACCAGCTCTGTTCTGCAGATGAATTTGATGCCGAGTCAGGGCATGATCCCAAATGAAGTCCAAGCTGTGAGCCCAGCACCAGCCTGGGCCCTGAACAGACTCGCTGTCTGCATTATCTGCAGGAGGAGCCCCTGCAGACCTGCAGAGATTGCTGGGTAAACAAATACAGCCATGCCCTGTGTTTGCTATTACAGGTAAACCACAGGCGGAGGCCAAGAGGGCACAACGGAGGGAGGAAATTGTTCTAGAGAAATGCTCTAGAAAAGCATTTCACAGAGGGAACATTTGAGCTGGGTTCTGAAGGGTGAATAGGAGTTCACCAAGGAGAGGGCAAGAGATGTGTACACTCCCAGGCAGCCAGGGATAAATGCAATCAAGATGGACAGAGGGACGCACCATCACACTGCTGCAGGATCTCATCAGCGGTGGTGTCGTAGTGAGCCAGGGGGTTGCTGGCGTTGCGGTACTGCATAGAAAGAGAGCAGAGCCCGTGAGCTGACCCCTGACACCTCAGTCACCCCCACATCCCTGACCGAGACCCTCCTAGGGAATGCCTGTCTCCAGGCCCCAGGTGCCTCACCTGGTCTAGGATGTGAGAATTGGGGATTTCGTTCTTCAGCCGCCAGGCCACCCCCACGTGTGACTCCGGGGAGTCGAACCTGGCATTGGTGGGCGTCCTCACAATCTCAGCCCCCAGTGCCCGCAGCACGTCCACCTGCAGGAGGGAAAGCGGTGGCCTGCACCTTCCGCCTGGCCCAGGCACCCTCATCCCCTGCCCTATGACCCCGCCCCTGGCCACGCCCACCCACCTTCTCGGAGCTCATCTTCTCTGGCATCACGATGATGCAGCGATAGCCCCTCACTGCCGCAGCCAGGGCCAGCCCGATCCCTGAGGGCACACAGAGGGTGAGAGGGGCCCAGTGACCCCCCAAGCCCTGCCCCGCCCCTGCCTGGGACACAGGGGCACACCCCGATGCCGGTTCCCTTAGGGCCCAGGGAAGAGGGTTCTGTGGGATTCCAAAATTGCCCAACATGGCTGCTTCTGCCTTCAAGTGCAGGGGGAGAGAGGCTGCCAGAGGCAGAAATAAAAGGTACACGTCAAGGAGGAGGAGGCAGCGGCGCAGGACAGGAGATCTGGTTCCTCCAGGCCCAGCCGGGTACACAGGCACAGGAAGAGCAGACTCCGGGTGCTCGTCTTGTGTGCCAGGCACTGCCAGGTGCCATCGCCCCGAGAGCATCGGCACTGGCCCCGAATGCTGGTCAAAGGAAGCTAGGTTGGGACACAGGCCGGCAGCGGGTGCAAGATGCCAGGGAGCAGGCGGCCAGGCGGGCCAGCACATGCGGCTGCAGCTCAGCCATCCCCCCCGGGTCCCGGCAGGCTCGGCATGGGTAGGGGACAGCCAGCCCTGGCCACCCCCTCTGGGCCTGGCACCCACCGGTGTTCCCGGATGTCGGCTCGATAATCGTGTCCCCGGGCTTCAGCGTCCCGTCGCGCTCAGCATCCTCAATCATCCGCAGGCTGATGCGGTCCTTCACGCTCCCGCCCGCGTTGAAGAACTCACACTTGGCCACTGGGAGGCAGAGATGAATCACAGAGGGGACCCCCTGACCACCCCCCCATTGATTCCTGCTCACCCCCCCATTACCTGATACACCCCAGGGTGGGGGACGGGCTTGGGGGTCTGTGGGTTCTGAAAAATTGCCACCTCTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCTGGTGGCCTCCGGCAAGCCACGTGACCAACCTGACCCTCGGTGTGTCTGTCTGTAAAACGGGCATTCCAAAACCTACTTCAAGGGCAACCACCAAGTTTAGACGTCATCCTGTACGGAGCACAGTGAGCCAGCCACGCGTGCTGCGTACGAGTTAAGGGTCCCTATTGTCTGACAAATGAGCACAGAGCCGGCCCTGCTGCCTTGGGGGTCTCTGTGAAGGGGGCTGCTCTGCTGCAGCTCCGAGATCTCCTTCCCTAGAGGGGGGCAGAGGAGGGCCAGGCTCCCACGAGGCCCCTCCTGTGAATCGGCGATCGGTTCCCAACGCACCGACCCCTGACTTCCTTCCCCCAGCGCCTGCCCCAGCTCTCACAGGTCCCCCGGCTGGGACATTAGAGCATCTCAGGATGAAAAAGTCCCAAGCCATGTTACTGGTTCCCTCTCCTTCCCACTCGAACTCCACCCCCTCCATCTGGCCCTGTCGCGGGGTTCTCCGCGGCACCCTTCCTGCCTCCCTCCGAACTCACTTGGCCTTGGTCATCTGAAATACGAAATTCCGTCCCCGCCTTGTCCCCAAGGCCTCTGCACCCACAGCTTTCTCTGTGACGATGCTGAGGTCTACCAGGGCTCTGCGCTCTTGGTGAAGAGCGACCCTTAGGAATTCCCTCCACGTTCTTGAGCCTGGAAACTGCGTCCTGCAAAGAAATGCCCTTCCCCGGAGGCCTCAGACCACACCTCAGGTGACCCCCTGCGCACCCAGGACGAGGCCAGCCACAGACCCTCCAAATTCCCATTCTCTGTCTCATAAATGATGAGCTGAACTATCTGTCCCCACGAAGCTGGCAAGACAGAGGTAACCGCTCCCTGGACAGCGGGTGGCTCACAGCACGTGCTAGGACCCGTCCACTGCTCCTTAGCAGGCATGACGCTAACCCTCCCCACCTGCTTGCTTCTGCCTTTGACCCTCACCCGGCCCTTCACACCCTCGCTGCTTCCACTCCGGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCATCTGCTGGGGAGTCACTTTGGTCACCCTCTGACACAATGCCCTGTTGTGTGTTTTTCCCAAACTTAAGCTGATATGT
TGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATTCCCAATAGGAAGCCAGGGCGCCAACCTCTTGGCAACTTATCTCTAAAGGGATCTCTTGGGAAAACCTCAGTACCAACCCCCACAGGCCTTGGCACCGAGTCCCTGGAAAAGGGCCCAAGGAGCCGGCCTCATGCTTGTAACAGAGAGTGAGCTCATCGCAGATGTCACCAGCTCTGTTCTGCAGATGAATTTGATGCCGAGTCAGGGCATGATCCCAAATGAAGTCCAAGCTGTGAGCCCAGCACCAGCCTGGGCCCTGAACAGACTCGCTGTCTGCATTATCTGCAGGAGGAGCCCCTGCAGACCTGCAGAGATTGCTGGGTAAACAAATACAGCCATGCCCTGTGTTTGCTATTACAGGTAAACCACAGGCGGAGGCCAAGAGGGCACAACGGAGGGAGGAAATTGTTCTAGAGAAATGCTCTAGAAAAGCATTTCACAGAGGGAACATTTGAGCTGGGTTCTGAAGGGTGAATAGGAGTTCACCAAGGAGAGGGCAAGAGATGTGTACACTCCCAGGCAGCCAGGGATAAATGCAATCAAGATGGACAGAGGGACGCACCATCACACTGCTGCAGGATCTCATCAGCGGTGGTGTCGTAGTGAGCCAGGGGGTTGCTGGCGTTGCGGTACTGCATAGAAAGAGAGCAGAGCCCGTGAGCTGACCCCTGACACCTCAGTCACCCCCACATCCCTGACCGAGACCCTCCTAGGGAATGCCTGTCTCCAGGCCCCAGGTGCCTCACCTGGTCTAGGATGTGAGAATTGGGGATTTCGTTCTTCAGCCGCCAGGCCACCCCCACGTGTGACTCCGGGGAGTCGAACCTGGCATTGGTGGGCGTCCTCACAATCTCAGCCCCCAGTGCCCGCAGCACGTCCACCTGCAGGAGGGAAAGCGGTGGCCTGCACCTTCCGCCTGGCCCAGGCACCCTCATCCCCTGCCCTATGACCCCGCCCCTGGCCACGCCCACCCACCTTCTCGGAGCTCATCTTCTCTGGCATCACGATGATGCAGCGATAGCCCCTCACTGCCGCAGCCAGGGCCAGCCCGATCCCTGAGGGCACACAGAGGGTGAGAGGGGCCCAGTGACCCCCCAAGCCCTGCCCCGCCCCTGCCTGGGACACAGGGGCACACCCCGATGCCGGTTCCCTTAGGGCCCAGGGAAGAGGGTTCTGTGGGATTCCAAAATTGCCCAACATGGCTGCTTCTGCCTTCAAGTGCAGGGGGAGAGAGGCTGCCAGAGGCAGAAATAAAAGGTACACGTCAAGGAGGAGGAGGCAGCGGCGCAGGACAGGAGATCTGGTTCCTCCAGGCCCAGCCGGGTACACAGGCACAGGAAGAGCAGACTCCGGGTGCTCGTCTTGTGTGCCAGGCACTGCCAGGTGCCATCGCCCCGAGAGCATCGGCACTGGCCCCGAATGCTGGTCAAAGGAAGCTAGGTTGGGACACAGGCCGGCAGCGGGTGCAAGATGCCAGGGAGCAGGCGGCCAGGCGGGCCAGCACATGCGGCTGCAGCTCAGCCATCCCCCCCGGGTCCCGGCAGGCTCGGCATGGGTAGGGGACAGCCAGCCCTGGCCACCCCCTCTGGGCCTGGCACCCACCGGTGTTCCCGGATGTCGGCTCGATAATCGTGTCCCCGGGCTTCAGCGTCCCGTCGCGCTCAGCATCCTCAATCATCTGCAGGCTGATGCGGTCCTTCACGCTCCCGCCCGCGTTGAAGAACTCACACTTGGCCACTGGGAGGCAGAGATGAATCACAGAGGGGACCCCCTGACCACCCCCCCATTGATTCCTGCTCACCCCCCCATTACCTGATACACCCCAGGGTGGGGGACGGGCTTGGGGGTCTGTGGGTTCTGAAAAATTGCCACCTCTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCTGGTGGCCTCCGGCAAGCCACGTGACCAACCTGACCCTCGGTGTGTCTGTCTGTAAAACGGGCATTCCAAAACCTACTTCAAGGGCAACCACCAAGTTTAGACGTCATCCTGTACGGAGCACAGTGAGCCAGCCACGCGTGCTGCGTACGAGTTAAGGGTCCCTATTGTCTGACAAATGAGCACAGAGCCGGCCCTGCTGCCTTGGGGGTCTCTGTGAAGGGGGCTGCTCTGCTGCAGCTCCGAGATCTCCTTCCCTAGAGGGGGGCAGAGGAGGGCCAGGCTCCCACGAGGCCCCTCCTGTGAATCGGCGATCGGTTCCCAACGCACCGACCCCTGACTTCCTTCCCCCAGCGCCTGCCCCAGCTCTCACAGGTCCCCCGGCTGGGACATTAGAGCATCTCAGGATGAAAAAGTCCCAAGCCATGTTACTGGTTCCCTCTCCTTCCCACTCGAACTCCACCCCCTCCATCTGGCCCTGTCGCGGGGTTCTCCGCGGCACCCTTCCTGCCTCCCTCCGAACTCACTTGGCCTTGGTCATCTGAAATACGAAATTCCGTCCCCGCCTTGTCCCCAAGGCCTCTGCACCCACAGCTTTCTCTGTGACGATGCTGAGGTCTACCAGGGCTCTGCGCTCTTGGTGAAGAGCGACCCTTAGGAATTCCCTCCACGTTCTTGAGCCTGGAAACTGCGTCCTGCAAAGAAATGCCCTTCCCCGGAGGCCTCAGACCACACCTCAGGTGACCCCCTGCGCACCCAGGACGAGGCCAGCCACAGACCCTCCAAATTCCCATTCTCTGTCTCATAAATGATGAGCTGAACTATCTGTCCCCACGAAGCTGGCAAGACAGAGGTAACCGCTCCCTGGACAGCGGGTGGCTCACAGCACGTGCTAGGACCCGTCCACTGCTCCTTAGCAGGCATGACGCTAACCCTCCCCACCTGCTTGCTTCTGCCTTTGACCCTCACCCGGCCCTTCACACCCTCGCTGCTTCCACTCCGGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCATCTGCTGGGGAGTCACTTTGGTCACCCTCTGACACAATGCCCTGTTGTGTGTTTTTCCCAAACTTAAGCTGATATGT
Task1_train_28420
Mutation context: Chromosome 21, Gene CBS (cystathionine beta-synthase). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Classic homocystinuria
TGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATTCCCAATAGGAAGCCAGGGCGCCAACCTCTTGGCAACTTATCTCTAAAGGGATCTCTTGGGAAAACCTCAGTACCAACCCCCACAGGCCTTGGCACCGAGTCCCTGGAAAAGGGCCCAAGGAGCCGGCCTCATGCTTGTAACAGAGAGTGAGCTCATCGCAGATGTCACCAGCTCTGTTCTGCAGATGAATTTGATGCCGAGTCAGGGCATGATCCCAAATGAAGTCCAAGCTGTGAGCCCAGCACCAGCCTGGGCCCTGAACAGACTCGCTGTCTGCATTATCTGCAGGAGGAGCCCCTGCAGACCTGCAGAGATTGCTGGGTAAACAAATACAGCCATGCCCTGTGTTTGCTATTACAGGTAAACCACAGGCGGAGGCCAAGAGGGCACAACGGAGGGAGGAAATTGTTCTAGAGAAATGCTCTAGAAAAGCATTTCACAGAGGGAACATTTGAGCTGGGTTCTGAAGGGTGAATAGGAGTTCACCAAGGAGAGGGCAAGAGATGTGTACACTCCCAGGCAGCCAGGGATAAATGCAATCAAGATGGACAGAGGGACGCACCATCACACTGCTGCAGGATCTCATCAGCGGTGGTGTCGTAGTGAGCCAGGGGGTTGCTGGCGTTGCGGTACTGCATAGAAAGAGAGCAGAGCCCGTGAGCTGACCCCTGACACCTCAGTCACCCCCACATCCCTGACCGAGACCCTCCTAGGGAATGCCTGTCTCCAGGCCCCAGGTGCCTCACCTGGTCTAGGATGTGAGAATTGGGGATTTCGTTCTTCAGCCGCCAGGCCACCCCCACGTGTGACTCCGGGGAGTCGAACCTGGCATTGGTGGGCGTCCTCACAATCTCAGCCCCCAGTGCCCGCAGCACGTCCACCTGCAGGAGGGAAAGCGGTGGCCTGCACCTTCCGCCTGGCCCAGGCACCCTCATCCCCTGCCCTATGACCCCGCCCCTGGCCACGCCCACCCACCTTCTCGGAGCTCATCTTCTCTGGCATCACGATGATGCAGCGATAGCCCCTCACTGCCGCAGCCAGGGCCAGCCCGATCCCTGAGGGCACACAGAGGGTGAGAGGGGCCCAGTGACCCCCCAAGCCCTGCCCCGCCCCTGCCTGGGACACAGGGGCACACCCCGATGCCGGTTCCCTTAGGGCCCAGGGAAGAGGGTTCTGTGGGATTCCAAAATTGCCCAACATGGCTGCTTCTGCCTTCAAGTGCAGGGGGAGAGAGGCTGCCAGAGGCAGAAATAAAAGGTACACGTCAAGGAGGAGGAGGCAGCGGCGCAGGACAGGAGATCTGGTTCCTCCAGGCCCAGCCGGGTACACAGGCACAGGAAGAGCAGACTCCGGGTGCTCGTCTTGTGTGCCAGGCACTGCCAGGTGCCATCGCCCCGAGAGCATCGGCACTGGCCCCGAATGCTGGTCAAAGGAAGCTAGGTTGGGACACAGGCCGGCAGCGGGTGCAAGATGCCAGGGAGCAGGCGGCCAGGCGGGCCAGCACATGCGGCTGCAGCTCAGCCATCCCCCCCGGGTCCCGGCAGGCTCGGCATGGGTAGGGGACAGCCAGCCCTGGCCACCCCCTCTGGGCCTGGCACCCACCGGTGTTCCCGGATGTCGGCTCGATAATCGTGTCCCCGGGCTTCAGCGTCCCGTCGCGCTCAGCATCCTCAATCATCCGCAGGCTGATGCGGTCCTTCACGCTCCCGCCCGCGTTGAAGAACTCACACTTGGCCACTGGGAGGCAGAGATGAATCACAGAGGGGACCCCCTGACCACCCCCCCATTGATTCCTGCTCACCCCCCCATTACCTGATACACCCCAGGGTGGGGGACGGGCTTGGGGGTCTGTGGGTTCTGAAAAATTGCCACCTCTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCTGGTGGCCTCCGGCAAGCCACGTGACCAACCTGACCCTCGGTGTGTCTGTCTGTAAAACGGGCATTCCAAAACCTACTTCAAGGGCAACCACCAAGTTTAGACGTCATCCTGTACGGAGCACAGTGAGCCAGCCACGCGTGCTGCGTACGAGTTAAGGGTCCCTATTGTCTGACAAATGAGCACAGAGCCGGCCCTGCTGCCTTGGGGGTCTCTGTGAAGGGGGCTGCTCTGCTGCAGCTCCGAGATCTCCTTCCCTAGAGGGGGGCAGAGGAGGGCCAGGCTCCCACGAGGCCCCTCCTGTGAATCGGCGATCGGTTCCCAACGCACCGACCCCTGACTTCCTTCCCCCAGCGCCTGCCCCAGCTCTCACAGGTCCCCCGGCTGGGACATTAGAGCATCTCAGGATGAAAAAGTCCCAAGCCATGTTACTGGTTCCCTCTCCTTCCCACTCGAACTCCACCCCCTCCATCTGGCCCTGTCGCGGGGTTCTCCGCGGCACCCTTCCTGCCTCCCTCCGAACTCACTTGGCCTTGGTCATCTGAAATACGAAATTCCGTCCCCGCCTTGTCCCCAAGGCCTCTGCACCCACAGCTTTCTCTGTGACGATGCTGAGGTCTACCAGGGCTCTGCGCTCTTGGTGAAGAGCGACCCTTAGGAATTCCCTCCACGTTCTTGAGCCTGGAAACTGCGTCCTGCAAAGAAATGCCCTTCCCCGGAGGCCTCAGACCACACCTCAGGTGACCCCCTGCGCACCCAGGACGAGGCCAGCCACAGACCCTCCAAATTCCCATTCTCTGTCTCATAAATGATGAGCTGAACTATCTGTCCCCACGAAGCTGGCAAGACAGAGGTAACCGCTCCCTGGACAGCGGGTGGCTCACAGCACGTGCTAGGACCCGTCCACTGCTCCTTAGCAGGCATGACGCTAACCCTCCCCACCTGCTTGCTTCTGCCTTTGACCCTCACCCGGCCCTTCACACCCTCGCTGCTTCCACTCCGGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCATCTGCTGGGGAGTCACTTTGGTCACCCTCTGACACAATGCCCTGTTGTGTGTTTTTCCCAAACTTAAGCTGATATGTTCTTGGCCACTCATTAACCAGCGAGTTTTCTGATCCCAGGGCCTTGCCT
TGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATTCCCAATAGGAAGCCAGGGCGCCAACCTCTTGGCAACTTATCTCTAAAGGGATCTCTTGGGAAAACCTCAGTACCAACCCCCACAGGCCTTGGCACCGAGTCCCTGGAAAAGGGCCCAAGGAGCCGGCCTCATGCTTGTAACAGAGAGTGAGCTCATCGCAGATGTCACCAGCTCTGTTCTGCAGATGAATTTGATGCCGAGTCAGGGCATGATCCCAAATGAAGTCCAAGCTGTGAGCCCAGCACCAGCCTGGGCCCTGAACAGACTCGCTGTCTGCATTATCTGCAGGAGGAGCCCCTGCAGACCTGCAGAGATTGCTGGGTAAACAAATACAGCCATGCCCTGTGTTTGCTATTACAGGTAAACCACAGGCGGAGGCCAAGAGGGCACAACGGAGGGAGGAAATTGTTCTAGAGAAATGCTCTAGAAAAGCATTTCACAGAGGGAACATTTGAGCTGGGTTCTGAAGGGTGAATAGGAGTTCACCAAGGAGAGGGCAAGAGATGTGTACACTCCCAGGCAGCCAGGGATAAATGCAATCAAGATGGACAGAGGGACGCACCATCACACTGCTGCAGGATCTCATCAGCGGTGGTGTCGTAGTGAGCCAGGGGGTTGCTGGCGTTGCGGTACTGCATAGAAAGAGAGCAGAGCCCGTGAGCTGACCCCTGACACCTCAGTCACCCCCACATCCCTGACCGAGACCCTCCTAGGGAATGCCTGTCTCCAGGCCCCAGGTGCCTCACCTGGTCTAGGATGTGAGAATTGGGGATTTCGTTCTTCAGCCGCCAGGCCACCCCCACGTGTGACTCCGGGGAGTCGAACCTGGCATTGGTGGGCGTCCTCACAATCTCAGCCCCCAGTGCCCGCAGCACGTCCACCTGCAGGAGGGAAAGCGGTGGCCTGCACCTTCCGCCTGGCCCAGGCACCCTCATCCCCTGCCCTATGACCCCGCCCCTGGCCACGCCCACCCACCTTCTCGGAGCTCATCTTCTCTGGCATCACGATGATGCAGCGATAGCCCCTCACTGCCGCAGCCAGGGCCAGCCCGATCCCTGAGGGCACACAGAGGGTGAGAGGGGCCCAGTGACCCCCCAAGCCCTGCCCCGCCCCTGCCTGGGACACAGGGGCACACCCCGATGCCGGTTCCCTTAGGGCCCAGGGAAGAGGGTTCTGTGGGATTCCAAAATTGCCCAACATGGCTGCTTCTGCCTTCAAGTGCAGGGGGAGAGAGGCTGCCAGAGGCAGAAATAAAAGGTACACGTCAAGGAGGAGGAGGCAGCGGCGCAGGACAGGAGATCTGGTTCCTCCAGGCCCAGCCGGGTACACAGGCACAGGAAGAGCAGACTCCGGGTGCTCGTCTTGTGTGCCAGGCACTGCCAGGTGCCATCGCCCCGAGAGCATCGGCACTGGCCCCGAATGCTGGTCAAAGGAAGCTAGGTTGGGACACAGGCCGGCAGCGGGTGCAAGATGCCAGGGAGCAGGCGGCCAGGCGGGCCAGCACATGCGGCTGCAGCTCAGCCATCCCCCCCGGGTCCCGGCAGGCTCGGCATGGGTAGGGGACAGCCAGCCCTGGCCACCCCCTCTGGGCCTGGCACCCACCGGTGTTCCCGGATGTCGGCTCGATAATCGTGTCCCCGGGCTTCAGCGTCCCGTCGCGCTCAGCATCCTCAATCATCCGCAGGCTGATGCGGTCCTTCACGCTCCCGCCCGCGTTGAAGAACTCACGCTTGGCCACTGGGAGGCAGAGATGAATCACAGAGGGGACCCCCTGACCACCCCCCCATTGATTCCTGCTCACCCCCCCATTACCTGATACACCCCAGGGTGGGGGACGGGCTTGGGGGTCTGTGGGTTCTGAAAAATTGCCACCTCTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCTGGTGGCCTCCGGCAAGCCACGTGACCAACCTGACCCTCGGTGTGTCTGTCTGTAAAACGGGCATTCCAAAACCTACTTCAAGGGCAACCACCAAGTTTAGACGTCATCCTGTACGGAGCACAGTGAGCCAGCCACGCGTGCTGCGTACGAGTTAAGGGTCCCTATTGTCTGACAAATGAGCACAGAGCCGGCCCTGCTGCCTTGGGGGTCTCTGTGAAGGGGGCTGCTCTGCTGCAGCTCCGAGATCTCCTTCCCTAGAGGGGGGCAGAGGAGGGCCAGGCTCCCACGAGGCCCCTCCTGTGAATCGGCGATCGGTTCCCAACGCACCGACCCCTGACTTCCTTCCCCCAGCGCCTGCCCCAGCTCTCACAGGTCCCCCGGCTGGGACATTAGAGCATCTCAGGATGAAAAAGTCCCAAGCCATGTTACTGGTTCCCTCTCCTTCCCACTCGAACTCCACCCCCTCCATCTGGCCCTGTCGCGGGGTTCTCCGCGGCACCCTTCCTGCCTCCCTCCGAACTCACTTGGCCTTGGTCATCTGAAATACGAAATTCCGTCCCCGCCTTGTCCCCAAGGCCTCTGCACCCACAGCTTTCTCTGTGACGATGCTGAGGTCTACCAGGGCTCTGCGCTCTTGGTGAAGAGCGACCCTTAGGAATTCCCTCCACGTTCTTGAGCCTGGAAACTGCGTCCTGCAAAGAAATGCCCTTCCCCGGAGGCCTCAGACCACACCTCAGGTGACCCCCTGCGCACCCAGGACGAGGCCAGCCACAGACCCTCCAAATTCCCATTCTCTGTCTCATAAATGATGAGCTGAACTATCTGTCCCCACGAAGCTGGCAAGACAGAGGTAACCGCTCCCTGGACAGCGGGTGGCTCACAGCACGTGCTAGGACCCGTCCACTGCTCCTTAGCAGGCATGACGCTAACCCTCCCCACCTGCTTGCTTCTGCCTTTGACCCTCACCCGGCCCTTCACACCCTCGCTGCTTCCACTCCGGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCATCTGCTGGGGAGTCACTTTGGTCACCCTCTGACACAATGCCCTGTTGTGTGTTTTTCCCAAACTTAAGCTGATATGTTCTTGGCCACTCATTAACCAGCGAGTTTTCTGATCCCAGGGCCTTGCCT
Task1_train_28421
A genetic alteration is present in CBS (cystathionine beta-synthase) on Chromosome 21. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Homocystinuria
TGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATTCCCAATAGGAAGCCAGGGCGCCAACCTCTTGGCAACTTATCTCTAAAGGGATCTCTTGGGAAAACCTCAGTACCAACCCCCACAGGCCTTGGCACCGAGTCCCTGGAAAAGGGCCCAAGGAGCCGGCCTCATGCTTGTAACAGAGAGTGAGCTCATCGCAGATGTCACCAGCTCTGTTCTGCAGATGAATTTGATGCCGAGTCAGGGCATGATCCCAAATGAAGTCCAAGCTGTGAGCCCAGCACCAGCCTGGGCCCTGAACAGACTCGCTGTCTGCATTATCTGCAGGAGGAGCCCCTGCAGACCTGCAGAGATTGCTGGGTAAACAAATACAGCCATGCCCTGTGTTTGCTATTACAGGTAAACCACAGGCGGAGGCCAAGAGGGCACAACGGAGGGAGGAAATTGTTCTAGAGAAATGCTCTAGAAAAGCATTTCACAGAGGGAACATTTGAGCTGGGTTCTGAAGGGTGAATAGGAGTTCACCAAGGAGAGGGCAAGAGATGTGTACACTCCCAGGCAGCCAGGGATAAATGCAATCAAGATGGACAGAGGGACGCACCATCACACTGCTGCAGGATCTCATCAGCGGTGGTGTCGTAGTGAGCCAGGGGGTTGCTGGCGTTGCGGTACTGCATAGAAAGAGAGCAGAGCCCGTGAGCTGACCCCTGACACCTCAGTCACCCCCACATCCCTGACCGAGACCCTCCTAGGGAATGCCTGTCTCCAGGCCCCAGGTGCCTCACCTGGTCTAGGATGTGAGAATTGGGGATTTCGTTCTTCAGCCGCCAGGCCACCCCCACGTGTGACTCCGGGGAGTCGAACCTGGCATTGGTGGGCGTCCTCACAATCTCAGCCCCCAGTGCCCGCAGCACGTCCACCTGCAGGAGGGAAAGCGGTGGCCTGCACCTTCCGCCTGGCCCAGGCACCCTCATCCCCTGCCCTATGACCCCGCCCCTGGCCACGCCCACCCACCTTCTCGGAGCTCATCTTCTCTGGCATCACGATGATGCAGCGATAGCCCCTCACTGCCGCAGCCAGGGCCAGCCCGATCCCTGAGGGCACACAGAGGGTGAGAGGGGCCCAGTGACCCCCCAAGCCCTGCCCCGCCCCTGCCTGGGACACAGGGGCACACCCCGATGCCGGTTCCCTTAGGGCCCAGGGAAGAGGGTTCTGTGGGATTCCAAAATTGCCCAACATGGCTGCTTCTGCCTTCAAGTGCAGGGGGAGAGAGGCTGCCAGAGGCAGAAATAAAAGGTACACGTCAAGGAGGAGGAGGCAGCGGCGCAGGACAGGAGATCTGGTTCCTCCAGGCCCAGCCGGGTACACAGGCACAGGAAGAGCAGACTCCGGGTGCTCGTCTTGTGTGCCAGGCACTGCCAGGTGCCATCGCCCCGAGAGCATCGGCACTGGCCCCGAATGCTGGTCAAAGGAAGCTAGGTTGGGACACAGGCCGGCAGCGGGTGCAAGATGCCAGGGAGCAGGCGGCCAGGCGGGCCAGCACATGCGGCTGCAGCTCAGCCATCCCCCCCGGGTCCCGGCAGGCTCGGCATGGGTAGGGGACAGCCAGCCCTGGCCACCCCCTCTGGGCCTGGCACCCACCGGTGTTCCCGGATGTCGGCTCGATAATCGTGTCCCCGGGCTTCAGCGTCCCGTCGCGCTCAGCATCCTCAATCATCCGCAGGCTGATGCGGTCCTTCACGCTCCCGCCCGCGTTGAAGAACTCACACTTGGCCACTGGGAGGCAGAGATGAATCACAGAGGGGACCCCCTGACCACCCCCCCATTGATTCCTGCTCACCCCCCCATTACCTGATACACCCCAGGGTGGGGGACGGGCTTGGGGGTCTGTGGGTTCTGAAAAATTGCCACCTCTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCTGGTGGCCTCCGGCAAGCCACGTGACCAACCTGACCCTCGGTGTGTCTGTCTGTAAAACGGGCATTCCAAAACCTACTTCAAGGGCAACCACCAAGTTTAGACGTCATCCTGTACGGAGCACAGTGAGCCAGCCACGCGTGCTGCGTACGAGTTAAGGGTCCCTATTGTCTGACAAATGAGCACAGAGCCGGCCCTGCTGCCTTGGGGGTCTCTGTGAAGGGGGCTGCTCTGCTGCAGCTCCGAGATCTCCTTCCCTAGAGGGGGGCAGAGGAGGGCCAGGCTCCCACGAGGCCCCTCCTGTGAATCGGCGATCGGTTCCCAACGCACCGACCCCTGACTTCCTTCCCCCAGCGCCTGCCCCAGCTCTCACAGGTCCCCCGGCTGGGACATTAGAGCATCTCAGGATGAAAAAGTCCCAAGCCATGTTACTGGTTCCCTCTCCTTCCCACTCGAACTCCACCCCCTCCATCTGGCCCTGTCGCGGGGTTCTCCGCGGCACCCTTCCTGCCTCCCTCCGAACTCACTTGGCCTTGGTCATCTGAAATACGAAATTCCGTCCCCGCCTTGTCCCCAAGGCCTCTGCACCCACAGCTTTCTCTGTGACGATGCTGAGGTCTACCAGGGCTCTGCGCTCTTGGTGAAGAGCGACCCTTAGGAATTCCCTCCACGTTCTTGAGCCTGGAAACTGCGTCCTGCAAAGAAATGCCCTTCCCCGGAGGCCTCAGACCACACCTCAGGTGACCCCCTGCGCACCCAGGACGAGGCCAGCCACAGACCCTCCAAATTCCCATTCTCTGTCTCATAAATGATGAGCTGAACTATCTGTCCCCACGAAGCTGGCAAGACAGAGGTAACCGCTCCCTGGACAGCGGGTGGCTCACAGCACGTGCTAGGACCCGTCCACTGCTCCTTAGCAGGCATGACGCTAACCCTCCCCACCTGCTTGCTTCTGCCTTTGACCCTCACCCGGCCCTTCACACCCTCGCTGCTTCCACTCCGGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCATCTGCTGGGGAGTCACTTTGGTCACCCTCTGACACAATGCCCTGTTGTGTGTTTTTCCCAAACTTAAGCTGATATGTTCTTGGCCACTCATTAACCAGCGAGTTTTCTGATCCCAGGGCCTTGCCT
TGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATTCCCAATAGGAAGCCAGGGCGCCAACCTCTTGGCAACTTATCTCTAAAGGGATCTCTTGGGAAAACCTCAGTACCAACCCCCACAGGCCTTGGCACCGAGTCCCTGGAAAAGGGCCCAAGGAGCCGGCCTCATGCTTGTAACAGAGAGTGAGCTCATCGCAGATGTCACCAGCTCTGTTCTGCAGATGAATTTGATGCCGAGTCAGGGCATGATCCCAAATGAAGTCCAAGCTGTGAGCCCAGCACCAGCCTGGGCCCTGAACAGACTCGCTGTCTGCATTATCTGCAGGAGGAGCCCCTGCAGACCTGCAGAGATTGCTGGGTAAACAAATACAGCCATGCCCTGTGTTTGCTATTACAGGTAAACCACAGGCGGAGGCCAAGAGGGCACAACGGAGGGAGGAAATTGTTCTAGAGAAATGCTCTAGAAAAGCATTTCACAGAGGGAACATTTGAGCTGGGTTCTGAAGGGTGAATAGGAGTTCACCAAGGAGAGGGCAAGAGATGTGTACACTCCCAGGCAGCCAGGGATAAATGCAATCAAGATGGACAGAGGGACGCACCATCACACTGCTGCAGGATCTCATCAGCGGTGGTGTCGTAGTGAGCCAGGGGGTTGCTGGCGTTGCGGTACTGCATAGAAAGAGAGCAGAGCCCGTGAGCTGACCCCTGACACCTCAGTCACCCCCACATCCCTGACCGAGACCCTCCTAGGGAATGCCTGTCTCCAGGCCCCAGGTGCCTCACCTGGTCTAGGATGTGAGAATTGGGGATTTCGTTCTTCAGCCGCCAGGCCACCCCCACGTGTGACTCCGGGGAGTCGAACCTGGCATTGGTGGGCGTCCTCACAATCTCAGCCCCCAGTGCCCGCAGCACGTCCACCTGCAGGAGGGAAAGCGGTGGCCTGCACCTTCCGCCTGGCCCAGGCACCCTCATCCCCTGCCCTATGACCCCGCCCCTGGCCACGCCCACCCACCTTCTCGGAGCTCATCTTCTCTGGCATCACGATGATGCAGCGATAGCCCCTCACTGCCGCAGCCAGGGCCAGCCCGATCCCTGAGGGCACACAGAGGGTGAGAGGGGCCCAGTGACCCCCCAAGCCCTGCCCCGCCCCTGCCTGGGACACAGGGGCACACCCCGATGCCGGTTCCCTTAGGGCCCAGGGAAGAGGGTTCTGTGGGATTCCAAAATTGCCCAACATGGCTGCTTCTGCCTTCAAGTGCAGGGGGAGAGAGGCTGCCAGAGGCAGAAATAAAAGGTACACGTCAAGGAGGAGGAGGCAGCGGCGCAGGACAGGAGATCTGGTTCCTCCAGGCCCAGCCGGGTACACAGGCACAGGAAGAGCAGACTCCGGGTGCTCGTCTTGTGTGCCAGGCACTGCCAGGTGCCATCGCCCCGAGAGCATCGGCACTGGCCCCGAATGCTGGTCAAAGGAAGCTAGGTTGGGACACAGGCCGGCAGCGGGTGCAAGATGCCAGGGAGCAGGCGGCCAGGCGGGCCAGCACATGCGGCTGCAGCTCAGCCATCCCCCCCGGGTCCCGGCAGGCTCGGCATGGGTAGGGGACAGCCAGCCCTGGCCACCCCCTCTGGGCCTGGCACCCACCGGTGTTCCCGGATGTCGGCTCGATAATCGTGTCCCCGGGCTTCAGCGTCCCGTCGCGCTCAGCATCCTCAATCATCCGCAGGCTGATGCGGTCCTTCACGCTCCCGCCCGCGTTGAAGAACTCACGCTTGGCCACTGGGAGGCAGAGATGAATCACAGAGGGGACCCCCTGACCACCCCCCCATTGATTCCTGCTCACCCCCCCATTACCTGATACACCCCAGGGTGGGGGACGGGCTTGGGGGTCTGTGGGTTCTGAAAAATTGCCACCTCTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCTGGTGGCCTCCGGCAAGCCACGTGACCAACCTGACCCTCGGTGTGTCTGTCTGTAAAACGGGCATTCCAAAACCTACTTCAAGGGCAACCACCAAGTTTAGACGTCATCCTGTACGGAGCACAGTGAGCCAGCCACGCGTGCTGCGTACGAGTTAAGGGTCCCTATTGTCTGACAAATGAGCACAGAGCCGGCCCTGCTGCCTTGGGGGTCTCTGTGAAGGGGGCTGCTCTGCTGCAGCTCCGAGATCTCCTTCCCTAGAGGGGGGCAGAGGAGGGCCAGGCTCCCACGAGGCCCCTCCTGTGAATCGGCGATCGGTTCCCAACGCACCGACCCCTGACTTCCTTCCCCCAGCGCCTGCCCCAGCTCTCACAGGTCCCCCGGCTGGGACATTAGAGCATCTCAGGATGAAAAAGTCCCAAGCCATGTTACTGGTTCCCTCTCCTTCCCACTCGAACTCCACCCCCTCCATCTGGCCCTGTCGCGGGGTTCTCCGCGGCACCCTTCCTGCCTCCCTCCGAACTCACTTGGCCTTGGTCATCTGAAATACGAAATTCCGTCCCCGCCTTGTCCCCAAGGCCTCTGCACCCACAGCTTTCTCTGTGACGATGCTGAGGTCTACCAGGGCTCTGCGCTCTTGGTGAAGAGCGACCCTTAGGAATTCCCTCCACGTTCTTGAGCCTGGAAACTGCGTCCTGCAAAGAAATGCCCTTCCCCGGAGGCCTCAGACCACACCTCAGGTGACCCCCTGCGCACCCAGGACGAGGCCAGCCACAGACCCTCCAAATTCCCATTCTCTGTCTCATAAATGATGAGCTGAACTATCTGTCCCCACGAAGCTGGCAAGACAGAGGTAACCGCTCCCTGGACAGCGGGTGGCTCACAGCACGTGCTAGGACCCGTCCACTGCTCCTTAGCAGGCATGACGCTAACCCTCCCCACCTGCTTGCTTCTGCCTTTGACCCTCACCCGGCCCTTCACACCCTCGCTGCTTCCACTCCGGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCATCTGCTGGGGAGTCACTTTGGTCACCCTCTGACACAATGCCCTGTTGTGTGTTTTTCCCAAACTTAAGCTGATATGTTCTTGGCCACTCATTAACCAGCGAGTTTTCTGATCCCAGGGCCTTGCCT
Task1_train_28422
Located on Chromosome 21, this mutation impacts CBS (cystathionine beta-synthase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
TGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATTCCCAATAGGAAGCCAGGGCGCCAACCTCTTGGCAACTTATCTCTAAAGGGATCTCTTGGGAAAACCTCAGTACCAACCCCCACAGGCCTTGGCACCGAGTCCCTGGAAAAGGGCCCAAGGAGCCGGCCTCATGCTTGTAACAGAGAGTGAGCTCATCGCAGATGTCACCAGCTCTGTTCTGCAGATGAATTTGATGCCGAGTCAGGGCATGATCCCAAATGAAGTCCAAGCTGTGAGCCCAGCACCAGCCTGGGCCCTGAACAGACTCGCTGTCTGCATTATCTGCAGGAGGAGCCCCTGCAGACCTGCAGAGATTGCTGGGTAAACAAATACAGCCATGCCCTGTGTTTGCTATTACAGGTAAACCACAGGCGGAGGCCAAGAGGGCACAACGGAGGGAGGAAATTGTTCTAGAGAAATGCTCTAGAAAAGCATTTCACAGAGGGAACATTTGAGCTGGGTTCTGAAGGGTGAATAGGAGTTCACCAAGGAGAGGGCAAGAGATGTGTACACTCCCAGGCAGCCAGGGATAAATGCAATCAAGATGGACAGAGGGACGCACCATCACACTGCTGCAGGATCTCATCAGCGGTGGTGTCGTAGTGAGCCAGGGGGTTGCTGGCGTTGCGGTACTGCATAGAAAGAGAGCAGAGCCCGTGAGCTGACCCCTGACACCTCAGTCACCCCCACATCCCTGACCGAGACCCTCCTAGGGAATGCCTGTCTCCAGGCCCCAGGTGCCTCACCTGGTCTAGGATGTGAGAATTGGGGATTTCGTTCTTCAGCCGCCAGGCCACCCCCACGTGTGACTCCGGGGAGTCGAACCTGGCATTGGTGGGCGTCCTCACAATCTCAGCCCCCAGTGCCCGCAGCACGTCCACCTGCAGGAGGGAAAGCGGTGGCCTGCACCTTCCGCCTGGCCCAGGCACCCTCATCCCCTGCCCTATGACCCCGCCCCTGGCCACGCCCACCCACCTTCTCGGAGCTCATCTTCTCTGGCATCACGATGATGCAGCGATAGCCCCTCACTGCCGCAGCCAGGGCCAGCCCGATCCCTGAGGGCACACAGAGGGTGAGAGGGGCCCAGTGACCCCCCAAGCCCTGCCCCGCCCCTGCCTGGGACACAGGGGCACACCCCGATGCCGGTTCCCTTAGGGCCCAGGGAAGAGGGTTCTGTGGGATTCCAAAATTGCCCAACATGGCTGCTTCTGCCTTCAAGTGCAGGGGGAGAGAGGCTGCCAGAGGCAGAAATAAAAGGTACACGTCAAGGAGGAGGAGGCAGCGGCGCAGGACAGGAGATCTGGTTCCTCCAGGCCCAGCCGGGTACACAGGCACAGGAAGAGCAGACTCCGGGTGCTCGTCTTGTGTGCCAGGCACTGCCAGGTGCCATCGCCCCGAGAGCATCGGCACTGGCCCCGAATGCTGGTCAAAGGAAGCTAGGTTGGGACACAGGCCGGCAGCGGGTGCAAGATGCCAGGGAGCAGGCGGCCAGGCGGGCCAGCACATGCGGCTGCAGCTCAGCCATCCCCCCCGGGTCCCGGCAGGCTCGGCATGGGTAGGGGACAGCCAGCCCTGGCCACCCCCTCTGGGCCTGGCACCCACCGGTGTTCCCGGATGTCGGCTCGATAATCGTGTCCCCGGGCTTCAGCGTCCCGTCGCGCTCAGCATCCTCAATCATCCGCAGGCTGATGCGGTCCTTCACGCTCCCGCCCGCGTTGAAGAACTCACACTTGGCCACTGGGAGGCAGAGATGAATCACAGAGGGGACCCCCTGACCACCCCCCCATTGATTCCTGCTCACCCCCCCATTACCTGATACACCCCAGGGTGGGGGACGGGCTTGGGGGTCTGTGGGTTCTGAAAAATTGCCACCTCTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCTGGTGGCCTCCGGCAAGCCACGTGACCAACCTGACCCTCGGTGTGTCTGTCTGTAAAACGGGCATTCCAAAACCTACTTCAAGGGCAACCACCAAGTTTAGACGTCATCCTGTACGGAGCACAGTGAGCCAGCCACGCGTGCTGCGTACGAGTTAAGGGTCCCTATTGTCTGACAAATGAGCACAGAGCCGGCCCTGCTGCCTTGGGGGTCTCTGTGAAGGGGGCTGCTCTGCTGCAGCTCCGAGATCTCCTTCCCTAGAGGGGGGCAGAGGAGGGCCAGGCTCCCACGAGGCCCCTCCTGTGAATCGGCGATCGGTTCCCAACGCACCGACCCCTGACTTCCTTCCCCCAGCGCCTGCCCCAGCTCTCACAGGTCCCCCGGCTGGGACATTAGAGCATCTCAGGATGAAAAAGTCCCAAGCCATGTTACTGGTTCCCTCTCCTTCCCACTCGAACTCCACCCCCTCCATCTGGCCCTGTCGCGGGGTTCTCCGCGGCACCCTTCCTGCCTCCCTCCGAACTCACTTGGCCTTGGTCATCTGAAATACGAAATTCCGTCCCCGCCTTGTCCCCAAGGCCTCTGCACCCACAGCTTTCTCTGTGACGATGCTGAGGTCTACCAGGGCTCTGCGCTCTTGGTGAAGAGCGACCCTTAGGAATTCCCTCCACGTTCTTGAGCCTGGAAACTGCGTCCTGCAAAGAAATGCCCTTCCCCGGAGGCCTCAGACCACACCTCAGGTGACCCCCTGCGCACCCAGGACGAGGCCAGCCACAGACCCTCCAAATTCCCATTCTCTGTCTCATAAATGATGAGCTGAACTATCTGTCCCCACGAAGCTGGCAAGACAGAGGTAACCGCTCCCTGGACAGCGGGTGGCTCACAGCACGTGCTAGGACCCGTCCACTGCTCCTTAGCAGGCATGACGCTAACCCTCCCCACCTGCTTGCTTCTGCCTTTGACCCTCACCCGGCCCTTCACACCCTCGCTGCTTCCACTCCGGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCATCTGCTGGGGAGTCACTTTGGTCACCCTCTGACACAATGCCCTGTTGTGTGTTTTTCCCAAACTTAAGCTGATATGTTCTTGGCCACTCATTAACCAGCGAGTTTTCTGATCCCAGGGCCTTGCCT
TGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATTCCCAATAGGAAGCCAGGGCGCCAACCTCTTGGCAACTTATCTCTAAAGGGATCTCTTGGGAAAACCTCAGTACCAACCCCCACAGGCCTTGGCACCGAGTCCCTGGAAAAGGGCCCAAGGAGCCGGCCTCATGCTTGTAACAGAGAGTGAGCTCATCGCAGATGTCACCAGCTCTGTTCTGCAGATGAATTTGATGCCGAGTCAGGGCATGATCCCAAATGAAGTCCAAGCTGTGAGCCCAGCACCAGCCTGGGCCCTGAACAGACTCGCTGTCTGCATTATCTGCAGGAGGAGCCCCTGCAGACCTGCAGAGATTGCTGGGTAAACAAATACAGCCATGCCCTGTGTTTGCTATTACAGGTAAACCACAGGCGGAGGCCAAGAGGGCACAACGGAGGGAGGAAATTGTTCTAGAGAAATGCTCTAGAAAAGCATTTCACAGAGGGAACATTTGAGCTGGGTTCTGAAGGGTGAATAGGAGTTCACCAAGGAGAGGGCAAGAGATGTGTACACTCCCAGGCAGCCAGGGATAAATGCAATCAAGATGGACAGAGGGACGCACCATCACACTGCTGCAGGATCTCATCAGCGGTGGTGTCGTAGTGAGCCAGGGGGTTGCTGGCGTTGCGGTACTGCATAGAAAGAGAGCAGAGCCCGTGAGCTGACCCCTGACACCTCAGTCACCCCCACATCCCTGACCGAGACCCTCCTAGGGAATGCCTGTCTCCAGGCCCCAGGTGCCTCACCTGGTCTAGGATGTGAGAATTGGGGATTTCGTTCTTCAGCCGCCAGGCCACCCCCACGTGTGACTCCGGGGAGTCGAACCTGGCATTGGTGGGCGTCCTCACAATCTCAGCCCCCAGTGCCCGCAGCACGTCCACCTGCAGGAGGGAAAGCGGTGGCCTGCACCTTCCGCCTGGCCCAGGCACCCTCATCCCCTGCCCTATGACCCCGCCCCTGGCCACGCCCACCCACCTTCTCGGAGCTCATCTTCTCTGGCATCACGATGATGCAGCGATAGCCCCTCACTGCCGCAGCCAGGGCCAGCCCGATCCCTGAGGGCACACAGAGGGTGAGAGGGGCCCAGTGACCCCCCAAGCCCTGCCCCGCCCCTGCCTGGGACACAGGGGCACACCCCGATGCCGGTTCCCTTAGGGCCCAGGGAAGAGGGTTCTGTGGGATTCCAAAATTGCCCAACATGGCTGCTTCTGCCTTCAAGTGCAGGGGGAGAGAGGCTGCCAGAGGCAGAAATAAAAGGTACACGTCAAGGAGGAGGAGGCAGCGGCGCAGGACAGGAGATCTGGTTCCTCCAGGCCCAGCCGGGTACACAGGCACAGGAAGAGCAGACTCCGGGTGCTCGTCTTGTGTGCCAGGCACTGCCAGGTGCCATCGCCCCGAGAGCATCGGCACTGGCCCCGAATGCTGGTCAAAGGAAGCTAGGTTGGGACACAGGCCGGCAGCGGGTGCAAGATGCCAGGGAGCAGGCGGCCAGGCGGGCCAGCACATGCGGCTGCAGCTCAGCCATCCCCCCCGGGTCCCGGCAGGCTCGGCATGGGTAGGGGACAGCCAGCCCTGGCCACCCCCTCTGGGCCTGGCACCCACCGGTGTTCCCGGATGTCGGCTCGATAATCGTGTCCCCGGGCTTCAGCGTCCCGTCGCGCTCAGCATCCTCAATCATCCGCAGGCTGATGCGGTCCTTCACGCTCCCGCCCGCGTTGAAGAACTCACGCTTGGCCACTGGGAGGCAGAGATGAATCACAGAGGGGACCCCCTGACCACCCCCCCATTGATTCCTGCTCACCCCCCCATTACCTGATACACCCCAGGGTGGGGGACGGGCTTGGGGGTCTGTGGGTTCTGAAAAATTGCCACCTCTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCTGGTGGCCTCCGGCAAGCCACGTGACCAACCTGACCCTCGGTGTGTCTGTCTGTAAAACGGGCATTCCAAAACCTACTTCAAGGGCAACCACCAAGTTTAGACGTCATCCTGTACGGAGCACAGTGAGCCAGCCACGCGTGCTGCGTACGAGTTAAGGGTCCCTATTGTCTGACAAATGAGCACAGAGCCGGCCCTGCTGCCTTGGGGGTCTCTGTGAAGGGGGCTGCTCTGCTGCAGCTCCGAGATCTCCTTCCCTAGAGGGGGGCAGAGGAGGGCCAGGCTCCCACGAGGCCCCTCCTGTGAATCGGCGATCGGTTCCCAACGCACCGACCCCTGACTTCCTTCCCCCAGCGCCTGCCCCAGCTCTCACAGGTCCCCCGGCTGGGACATTAGAGCATCTCAGGATGAAAAAGTCCCAAGCCATGTTACTGGTTCCCTCTCCTTCCCACTCGAACTCCACCCCCTCCATCTGGCCCTGTCGCGGGGTTCTCCGCGGCACCCTTCCTGCCTCCCTCCGAACTCACTTGGCCTTGGTCATCTGAAATACGAAATTCCGTCCCCGCCTTGTCCCCAAGGCCTCTGCACCCACAGCTTTCTCTGTGACGATGCTGAGGTCTACCAGGGCTCTGCGCTCTTGGTGAAGAGCGACCCTTAGGAATTCCCTCCACGTTCTTGAGCCTGGAAACTGCGTCCTGCAAAGAAATGCCCTTCCCCGGAGGCCTCAGACCACACCTCAGGTGACCCCCTGCGCACCCAGGACGAGGCCAGCCACAGACCCTCCAAATTCCCATTCTCTGTCTCATAAATGATGAGCTGAACTATCTGTCCCCACGAAGCTGGCAAGACAGAGGTAACCGCTCCCTGGACAGCGGGTGGCTCACAGCACGTGCTAGGACCCGTCCACTGCTCCTTAGCAGGCATGACGCTAACCCTCCCCACCTGCTTGCTTCTGCCTTTGACCCTCACCCGGCCCTTCACACCCTCGCTGCTTCCACTCCGGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCATCTGCTGGGGAGTCACTTTGGTCACCCTCTGACACAATGCCCTGTTGTGTGTTTTTCCCAAACTTAAGCTGATATGTTCTTGGCCACTCATTAACCAGCGAGTTTTCTGATCCCAGGGCCTTGCCT
Task1_train_28423
This gene mutation involves CBS (cystathionine beta-synthase) on Chromosome 21. Is it associated with any clinical condition, or is it benign?
Pathogenic; Cardiovascular phenotype
TGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATTCCCAATAGGAAGCCAGGGCGCCAACCTCTTGGCAACTTATCTCTAAAGGGATCTCTTGGGAAAACCTCAGTACCAACCCCCACAGGCCTTGGCACCGAGTCCCTGGAAAAGGGCCCAAGGAGCCGGCCTCATGCTTGTAACAGAGAGTGAGCTCATCGCAGATGTCACCAGCTCTGTTCTGCAGATGAATTTGATGCCGAGTCAGGGCATGATCCCAAATGAAGTCCAAGCTGTGAGCCCAGCACCAGCCTGGGCCCTGAACAGACTCGCTGTCTGCATTATCTGCAGGAGGAGCCCCTGCAGACCTGCAGAGATTGCTGGGTAAACAAATACAGCCATGCCCTGTGTTTGCTATTACAGGTAAACCACAGGCGGAGGCCAAGAGGGCACAACGGAGGGAGGAAATTGTTCTAGAGAAATGCTCTAGAAAAGCATTTCACAGAGGGAACATTTGAGCTGGGTTCTGAAGGGTGAATAGGAGTTCACCAAGGAGAGGGCAAGAGATGTGTACACTCCCAGGCAGCCAGGGATAAATGCAATCAAGATGGACAGAGGGACGCACCATCACACTGCTGCAGGATCTCATCAGCGGTGGTGTCGTAGTGAGCCAGGGGGTTGCTGGCGTTGCGGTACTGCATAGAAAGAGAGCAGAGCCCGTGAGCTGACCCCTGACACCTCAGTCACCCCCACATCCCTGACCGAGACCCTCCTAGGGAATGCCTGTCTCCAGGCCCCAGGTGCCTCACCTGGTCTAGGATGTGAGAATTGGGGATTTCGTTCTTCAGCCGCCAGGCCACCCCCACGTGTGACTCCGGGGAGTCGAACCTGGCATTGGTGGGCGTCCTCACAATCTCAGCCCCCAGTGCCCGCAGCACGTCCACCTGCAGGAGGGAAAGCGGTGGCCTGCACCTTCCGCCTGGCCCAGGCACCCTCATCCCCTGCCCTATGACCCCGCCCCTGGCCACGCCCACCCACCTTCTCGGAGCTCATCTTCTCTGGCATCACGATGATGCAGCGATAGCCCCTCACTGCCGCAGCCAGGGCCAGCCCGATCCCTGAGGGCACACAGAGGGTGAGAGGGGCCCAGTGACCCCCCAAGCCCTGCCCCGCCCCTGCCTGGGACACAGGGGCACACCCCGATGCCGGTTCCCTTAGGGCCCAGGGAAGAGGGTTCTGTGGGATTCCAAAATTGCCCAACATGGCTGCTTCTGCCTTCAAGTGCAGGGGGAGAGAGGCTGCCAGAGGCAGAAATAAAAGGTACACGTCAAGGAGGAGGAGGCAGCGGCGCAGGACAGGAGATCTGGTTCCTCCAGGCCCAGCCGGGTACACAGGCACAGGAAGAGCAGACTCCGGGTGCTCGTCTTGTGTGCCAGGCACTGCCAGGTGCCATCGCCCCGAGAGCATCGGCACTGGCCCCGAATGCTGGTCAAAGGAAGCTAGGTTGGGACACAGGCCGGCAGCGGGTGCAAGATGCCAGGGAGCAGGCGGCCAGGCGGGCCAGCACATGCGGCTGCAGCTCAGCCATCCCCCCCGGGTCCCGGCAGGCTCGGCATGGGTAGGGGACAGCCAGCCCTGGCCACCCCCTCTGGGCCTGGCACCCACCGGTGTTCCCGGATGTCGGCTCGATAATCGTGTCCCCGGGCTTCAGCGTCCCGTCGCGCTCAGCATCCTCAATCATCCGCAGGCTGATGCGGTCCTTCACGCTCCCGCCCGCGTTGAAGAACTCACACTTGGCCACTGGGAGGCAGAGATGAATCACAGAGGGGACCCCCTGACCACCCCCCCATTGATTCCTGCTCACCCCCCCATTACCTGATACACCCCAGGGTGGGGGACGGGCTTGGGGGTCTGTGGGTTCTGAAAAATTGCCACCTCTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCTGGTGGCCTCCGGCAAGCCACGTGACCAACCTGACCCTCGGTGTGTCTGTCTGTAAAACGGGCATTCCAAAACCTACTTCAAGGGCAACCACCAAGTTTAGACGTCATCCTGTACGGAGCACAGTGAGCCAGCCACGCGTGCTGCGTACGAGTTAAGGGTCCCTATTGTCTGACAAATGAGCACAGAGCCGGCCCTGCTGCCTTGGGGGTCTCTGTGAAGGGGGCTGCTCTGCTGCAGCTCCGAGATCTCCTTCCCTAGAGGGGGGCAGAGGAGGGCCAGGCTCCCACGAGGCCCCTCCTGTGAATCGGCGATCGGTTCCCAACGCACCGACCCCTGACTTCCTTCCCCCAGCGCCTGCCCCAGCTCTCACAGGTCCCCCGGCTGGGACATTAGAGCATCTCAGGATGAAAAAGTCCCAAGCCATGTTACTGGTTCCCTCTCCTTCCCACTCGAACTCCACCCCCTCCATCTGGCCCTGTCGCGGGGTTCTCCGCGGCACCCTTCCTGCCTCCCTCCGAACTCACTTGGCCTTGGTCATCTGAAATACGAAATTCCGTCCCCGCCTTGTCCCCAAGGCCTCTGCACCCACAGCTTTCTCTGTGACGATGCTGAGGTCTACCAGGGCTCTGCGCTCTTGGTGAAGAGCGACCCTTAGGAATTCCCTCCACGTTCTTGAGCCTGGAAACTGCGTCCTGCAAAGAAATGCCCTTCCCCGGAGGCCTCAGACCACACCTCAGGTGACCCCCTGCGCACCCAGGACGAGGCCAGCCACAGACCCTCCAAATTCCCATTCTCTGTCTCATAAATGATGAGCTGAACTATCTGTCCCCACGAAGCTGGCAAGACAGAGGTAACCGCTCCCTGGACAGCGGGTGGCTCACAGCACGTGCTAGGACCCGTCCACTGCTCCTTAGCAGGCATGACGCTAACCCTCCCCACCTGCTTGCTTCTGCCTTTGACCCTCACCCGGCCCTTCACACCCTCGCTGCTTCCACTCCGGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCATCTGCTGGGGAGTCACTTTGGTCACCCTCTGACACAATGCCCTGTTGTGTGTTTTTCCCAAACTTAAGCTGATATGTTCTTGGCCACTCATTAACCAGCGAGTTTTCTGATCCCAGGGCCTTGCCT
TGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATTCCCAATAGGAAGCCAGGGCGCCAACCTCTTGGCAACTTATCTCTAAAGGGATCTCTTGGGAAAACCTCAGTACCAACCCCCACAGGCCTTGGCACCGAGTCCCTGGAAAAGGGCCCAAGGAGCCGGCCTCATGCTTGTAACAGAGAGTGAGCTCATCGCAGATGTCACCAGCTCTGTTCTGCAGATGAATTTGATGCCGAGTCAGGGCATGATCCCAAATGAAGTCCAAGCTGTGAGCCCAGCACCAGCCTGGGCCCTGAACAGACTCGCTGTCTGCATTATCTGCAGGAGGAGCCCCTGCAGACCTGCAGAGATTGCTGGGTAAACAAATACAGCCATGCCCTGTGTTTGCTATTACAGGTAAACCACAGGCGGAGGCCAAGAGGGCACAACGGAGGGAGGAAATTGTTCTAGAGAAATGCTCTAGAAAAGCATTTCACAGAGGGAACATTTGAGCTGGGTTCTGAAGGGTGAATAGGAGTTCACCAAGGAGAGGGCAAGAGATGTGTACACTCCCAGGCAGCCAGGGATAAATGCAATCAAGATGGACAGAGGGACGCACCATCACACTGCTGCAGGATCTCATCAGCGGTGGTGTCGTAGTGAGCCAGGGGGTTGCTGGCGTTGCGGTACTGCATAGAAAGAGAGCAGAGCCCGTGAGCTGACCCCTGACACCTCAGTCACCCCCACATCCCTGACCGAGACCCTCCTAGGGAATGCCTGTCTCCAGGCCCCAGGTGCCTCACCTGGTCTAGGATGTGAGAATTGGGGATTTCGTTCTTCAGCCGCCAGGCCACCCCCACGTGTGACTCCGGGGAGTCGAACCTGGCATTGGTGGGCGTCCTCACAATCTCAGCCCCCAGTGCCCGCAGCACGTCCACCTGCAGGAGGGAAAGCGGTGGCCTGCACCTTCCGCCTGGCCCAGGCACCCTCATCCCCTGCCCTATGACCCCGCCCCTGGCCACGCCCACCCACCTTCTCGGAGCTCATCTTCTCTGGCATCACGATGATGCAGCGATAGCCCCTCACTGCCGCAGCCAGGGCCAGCCCGATCCCTGAGGGCACACAGAGGGTGAGAGGGGCCCAGTGACCCCCCAAGCCCTGCCCCGCCCCTGCCTGGGACACAGGGGCACACCCCGATGCCGGTTCCCTTAGGGCCCAGGGAAGAGGGTTCTGTGGGATTCCAAAATTGCCCAACATGGCTGCTTCTGCCTTCAAGTGCAGGGGGAGAGAGGCTGCCAGAGGCAGAAATAAAAGGTACACGTCAAGGAGGAGGAGGCAGCGGCGCAGGACAGGAGATCTGGTTCCTCCAGGCCCAGCCGGGTACACAGGCACAGGAAGAGCAGACTCCGGGTGCTCGTCTTGTGTGCCAGGCACTGCCAGGTGCCATCGCCCCGAGAGCATCGGCACTGGCCCCGAATGCTGGTCAAAGGAAGCTAGGTTGGGACACAGGCCGGCAGCGGGTGCAAGATGCCAGGGAGCAGGCGGCCAGGCGGGCCAGCACATGCGGCTGCAGCTCAGCCATCCCCCCCGGGTCCCGGCAGGCTCGGCATGGGTAGGGGACAGCCAGCCCTGGCCACCCCCTCTGGGCCTGGCACCCACCGGTGTTCCCGGATGTCGGCTCGATAATCGTGTCCCCGGGCTTCAGCGTCCCGTCGCGCTCAGCATCCTCAATCATCCGCAGGCTGATGCGGTCCTTCACGCTCCCGCCCGCGTTGAAGAACTCACGCTTGGCCACTGGGAGGCAGAGATGAATCACAGAGGGGACCCCCTGACCACCCCCCCATTGATTCCTGCTCACCCCCCCATTACCTGATACACCCCAGGGTGGGGGACGGGCTTGGGGGTCTGTGGGTTCTGAAAAATTGCCACCTCTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCTGGTGGCCTCCGGCAAGCCACGTGACCAACCTGACCCTCGGTGTGTCTGTCTGTAAAACGGGCATTCCAAAACCTACTTCAAGGGCAACCACCAAGTTTAGACGTCATCCTGTACGGAGCACAGTGAGCCAGCCACGCGTGCTGCGTACGAGTTAAGGGTCCCTATTGTCTGACAAATGAGCACAGAGCCGGCCCTGCTGCCTTGGGGGTCTCTGTGAAGGGGGCTGCTCTGCTGCAGCTCCGAGATCTCCTTCCCTAGAGGGGGGCAGAGGAGGGCCAGGCTCCCACGAGGCCCCTCCTGTGAATCGGCGATCGGTTCCCAACGCACCGACCCCTGACTTCCTTCCCCCAGCGCCTGCCCCAGCTCTCACAGGTCCCCCGGCTGGGACATTAGAGCATCTCAGGATGAAAAAGTCCCAAGCCATGTTACTGGTTCCCTCTCCTTCCCACTCGAACTCCACCCCCTCCATCTGGCCCTGTCGCGGGGTTCTCCGCGGCACCCTTCCTGCCTCCCTCCGAACTCACTTGGCCTTGGTCATCTGAAATACGAAATTCCGTCCCCGCCTTGTCCCCAAGGCCTCTGCACCCACAGCTTTCTCTGTGACGATGCTGAGGTCTACCAGGGCTCTGCGCTCTTGGTGAAGAGCGACCCTTAGGAATTCCCTCCACGTTCTTGAGCCTGGAAACTGCGTCCTGCAAAGAAATGCCCTTCCCCGGAGGCCTCAGACCACACCTCAGGTGACCCCCTGCGCACCCAGGACGAGGCCAGCCACAGACCCTCCAAATTCCCATTCTCTGTCTCATAAATGATGAGCTGAACTATCTGTCCCCACGAAGCTGGCAAGACAGAGGTAACCGCTCCCTGGACAGCGGGTGGCTCACAGCACGTGCTAGGACCCGTCCACTGCTCCTTAGCAGGCATGACGCTAACCCTCCCCACCTGCTTGCTTCTGCCTTTGACCCTCACCCGGCCCTTCACACCCTCGCTGCTTCCACTCCGGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCATCTGCTGGGGAGTCACTTTGGTCACCCTCTGACACAATGCCCTGTTGTGTGTTTTTCCCAAACTTAAGCTGATATGTTCTTGGCCACTCATTAACCAGCGAGTTTTCTGATCCCAGGGCCTTGCCT
Task1_train_28424
Here is a genetic alteration in CBS (cystathionine beta-synthase) on Chromosome 21. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCTGGTGGCCTCCGGCAAGCCACGTGACCAACCTGACCCTCGGTGTGTCTGTCTGTAAAACGGGCATTCCAAAACCTACTTCAAGGGCAACCACCAAGTTTAGACGTCATCCTGTACGGAGCACAGTGAGCCAGCCACGCGTGCTGCGTACGAGTTAAGGGTCCCTATTGTCTGACAAATGAGCACAGAGCCGGCCCTGCTGCCTTGGGGGTCTCTGTGAAGGGGGCTGCTCTGCTGCAGCTCCGAGATCTCCTTCCCTAGAGGGGGGCAGAGGAGGGCCAGGCTCCCACGAGGCCCCTCCTGTGAATCGGCGATCGGTTCCCAACGCACCGACCCCTGACTTCCTTCCCCCAGCGCCTGCCCCAGCTCTCACAGGTCCCCCGGCTGGGACATTAGAGCATCTCAGGATGAAAAAGTCCCAAGCCATGTTACTGGTTCCCTCTCCTTCCCACTCGAACTCCACCCCCTCCATCTGGCCCTGTCGCGGGGTTCTCCGCGGCACCCTTCCTGCCTCCCTCCGAACTCACTTGGCCTTGGTCATCTGAAATACGAAATTCCGTCCCCGCCTTGTCCCCAAGGCCTCTGCACCCACAGCTTTCTCTGTGACGATGCTGAGGTCTACCAGGGCTCTGCGCTCTTGGTGAAGAGCGACCCTTAGGAATTCCCTCCACGTTCTTGAGCCTGGAAACTGCGTCCTGCAAAGAAATGCCCTTCCCCGGAGGCCTCAGACCACACCTCAGGTGACCCCCTGCGCACCCAGGACGAGGCCAGCCACAGACCCTCCAAATTCCCATTCTCTGTCTCATAAATGATGAGCTGAACTATCTGTCCCCACGAAGCTGGCAAGACAGAGGTAACCGCTCCCTGGACAGCGGGTGGCTCACAGCACGTGCTAGGACCCGTCCACTGCTCCTTAGCAGGCATGACGCTAACCCTCCCCACCTGCTTGCTTCTGCCTTTGACCCTCACCCGGCCCTTCACACCCTCGCTGCTTCCACTCCGGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCATCTGCTGGGGAGTCACTTTGGTCACCCTCTGACACAATGCCCTGTTGTGTGTTTTTCCCAAACTTAAGCTGATATGTTCTTGGCCACTCATTAACCAGCGAGTTTTCTGATCCCAGGGCCTTGCCTAAGGGATCCATCCCAGGACCCCCCAGGACCCCCCAGGCCCACGGAGCCCAGTGTAGATGGAGGAAGCCCCTCTCCAAAGCCAGGGCACTCACAGAGCTCACACTTCAGGCCGAACTTCTTCCCAATCTTGTTGATTCTGACCATAGGGGTGTCCCCGATTTTCTTCAGAATATCTGGCAAGATTTTTGGAGATTTTGCCCTGAAACAGAGGAGTCCACAATTATTCAGGAAAAAAAAAAAAAATAGTACCAGCCCTGGCAGACATTGTCTTACACAAATCAACACTCGAAGAACTGGAAAAAAAAAAAAAAAAAAAAAAAAAGAACTGGCTTTATCTGGGTGGTGGTTACACAAATCTGTACACAGATACACCTAACACACATCCCACACACACGCCTGAAACACACATACACACACATGCTTAGACATACAAATCTATAAAAAGCAAATCATGCCTGTGGTTTATTTGCACCAATGCCAGCTTCCCAGGTTTGAAAATGAACCTACAGTCGTGGCAGATGTTGTTAGTGGGAAGCTGGGAGAAGGGTACAAAGGATCTATTATTTTTGCCACTTATTGTGAGTAGTAAATTATTTCCAAATAAAAAAGTTAAAATAAGCAAATACTGACTCCAAAACAAAGGTTTAGGTCCACCTTTTCAGAAAGGCTTTACTGGAGATGACATTTCCTTTCATCTCTCAGCATGTGACCATAGGAAGCAAAAAAGTGTCAGGGCAGAGACTCCTTAGACCAGGGACAATGGCTGCAAAGCGCAGGCGGGATGTCTAGCCCTGCACAGAAAATGTCAGGCACGTGGCAGACTCAGAGCCCCGGCAGAGGCGCTGTCGGCCAGGCTCGTGATGCCCTGCCCTGCAGCATCTGGCTGTGTAAACCCTCAAACCCTGGTCCAGGTGGTTTCCTAAATGGCCCTCATGCCCCTGCCATCCTCCCCCAGGGAGATGCTGATGACACCCCCTATCTATCTGCACCAAGCTCACCACATACTCATCTGGGAACACGCATGGCTTACAGCGGTCTCCAGACCCGCAACCCCTCCCTGGGCCTTGCAGCTCCGATGACACCCCGTGGCTAACCCTGGGCCCCCTCTTCAGCACAGTCACCTGCTGAACAGCCAGGGTCCTTGGGTCCTGCCCCCCAGGAGGCGACCCTTAGACCTGGGGTGAACCCAGCTCCCAGAGGTCCTGTGCCATGGAGGGAGTGCCACATTTGCAGGGAGAGCTACCCTGAAGGCCAAAACAGGCGCCAACAAGAGCAGCTGGAATCCAATCGCACCCTTCCCGGGGAGCAGAAGGCAGTCCTGCCAGGTCCCCAAACTGTACAGGGGCCAGGGAGGTTCCCTCAGAAGCAGTTCTCGGCAGAAGGGAACCAGGCTTGGCAGGTGTAGAGAGCCAGGGCCAGGTGGAAAGCCAAGCCCCAGGGTGACAGCGCCGGGGATTAGTTCATTAATTCAGTTCGGGCATCTGGCCAGCCAGGCGGGAAGAGTCCCGCCTCCCTGCAGCAGGTGTGCTGACTCAGCACTGGGCCTCGGTGGCTGTGAAGTTACCTGAGAAGTTTGCAGAGGTGATCAGGGCCAGGCCCAGAGCGCTTAGCAAGAAAAAGGATGTGACTTGCAGGGATAGCCCTGGAGCCCCTTATCTCAAGGACTCCCACTTCCACAGCCCAAGAGGCTCCTGGGAGGACACGCCACTGTCCTAGAATGAACCTCCAACTCCTGACCCACCTCTGCAGCACCTCCCCGCAACGCCACTATTCTCAGGGGCCCTCCGACTGGAGACAAGCGGCGTCGGCTCTGCGTCTCAGGATGGGGGTGTCTTCGGAGGATGAATGAGGCCAGTATGTGAGGTGCAGGTGCAACGCCATTTACAACCTGGAGGGCATCGTCTCCTTCTCATGCCCTAGAGTTAGGAGCTCACGGAGCCCTCAGGAATCGGGCCTGTCTTCCCTGCCCACTCCACCCTCCAGCAGCCACTCCCGACCTCACCGGGCCTCTCACCCACTGCTCTCTTGGGTTTGTCTTGGCAGCAAGAGCCCATCCTCCTGGCTGCCCACACATCTGCTTGGCCTCCTGAGCTCCCAGCACTGAGTATGTTTGACACTCAGACCTTCTGGGTTTGTCCACTGTCACTTCTTTCTTTCTATTGCTGCACTGAGAGTACACCCAGCCACCCCCACC
CTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCTGGTGGCCTCCGGCAAGCCACGTGACCAACCTGACCCTCGGTGTGTCTGTCTGTAAAACGGGCATTCCAAAACCTACTTCAAGGGCAACCACCAAGTTTAGACGTCATCCTGTACGGAGCACAGTGAGCCAGCCACGCGTGCTGCGTACGAGTTAAGGGTCCCTATTGTCTGACAAATGAGCACAGAGCCGGCCCTGCTGCCTTGGGGGTCTCTGTGAAGGGGGCTGCTCTGCTGCAGCTCCGAGATCTCCTTCCCTAGAGGGGGGCAGAGGAGGGCCAGGCTCCCACGAGGCCCCTCCTGTGAATCGGCGATCGGTTCCCAACGCACCGACCCCTGACTTCCTTCCCCCAGCGCCTGCCCCAGCTCTCACAGGTCCCCCGGCTGGGACATTAGAGCATCTCAGGATGAAAAAGTCCCAAGCCATGTTACTGGTTCCCTCTCCTTCCCACTCGAACTCCACCCCCTCCATCTGGCCCTGTCGCGGGGTTCTCCGCGGCACCCTTCCTGCCTCCCTCCGAACTCACTTGGCCTTGGTCATCTGAAATACGAAATTCCGTCCCCGCCTTGTCCCCAAGGCCTCTGCACCCACAGCTTTCTCTGTGACGATGCTGAGGTCTACCAGGGCTCTGCGCTCTTGGTGAAGAGCGACCCTTAGGAATTCCCTCCACGTTCTTGAGCCTGGAAACTGCGTCCTGCAAAGAAATGCCCTTCCCCGGAGGCCTCAGACCACACCTCAGGTGACCCCCTGCGCACCCAGGACGAGGCCAGCCACAGACCCTCCAAATTCCCATTCTCTGTCTCATAAATGATGAGCTGAACTATCTGTCCCCACGAAGCTGGCAAGACAGAGGTAACCGCTCCCTGGACAGCGGGTGGCTCACAGCACGTGCTAGGACCCGTCCACTGCTCCTTAGCAGGCATGACGCTAACCCTCCCCACCTGCTTGCTTCTGCCTTTGACCCTCACCCGGCCCTTCACACCCTCGCTGCTTCCACTCCGGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCATCTGCTGGGGAGTCACTTTGGTCACCCTCTGACACAATGCCCTGTTGTGTGTTTTTCCCAAACTTAAGCTGATATGTTCTTGGCCACTCATTAACCAGCGAGTTTTCTGATCCCAGGGCCTTGCCTAAGGGATCCATCCCAGGACCCCCCAGGACCCCCCAGGCCCACGGAGCCCAGTGTAGATGGAGGAAGCCCCTCTCCAAAGCCAGGGCACTCACAGAGCTCACACTTCAGGCCGAACTTCTTCCCAATCTTGTTGATTCTGACCATAGAGGTGTCCCCGATTTTCTTCAGAATATCTGGCAAGATTTTTGGAGATTTTGCCCTGAAACAGAGGAGTCCACAATTATTCAGGAAAAAAAAAAAAAATAGTACCAGCCCTGGCAGACATTGTCTTACACAAATCAACACTCGAAGAACTGGAAAAAAAAAAAAAAAAAAAAAAAAAGAACTGGCTTTATCTGGGTGGTGGTTACACAAATCTGTACACAGATACACCTAACACACATCCCACACACACGCCTGAAACACACATACACACACATGCTTAGACATACAAATCTATAAAAAGCAAATCATGCCTGTGGTTTATTTGCACCAATGCCAGCTTCCCAGGTTTGAAAATGAACCTACAGTCGTGGCAGATGTTGTTAGTGGGAAGCTGGGAGAAGGGTACAAAGGATCTATTATTTTTGCCACTTATTGTGAGTAGTAAATTATTTCCAAATAAAAAAGTTAAAATAAGCAAATACTGACTCCAAAACAAAGGTTTAGGTCCACCTTTTCAGAAAGGCTTTACTGGAGATGACATTTCCTTTCATCTCTCAGCATGTGACCATAGGAAGCAAAAAAGTGTCAGGGCAGAGACTCCTTAGACCAGGGACAATGGCTGCAAAGCGCAGGCGGGATGTCTAGCCCTGCACAGAAAATGTCAGGCACGTGGCAGACTCAGAGCCCCGGCAGAGGCGCTGTCGGCCAGGCTCGTGATGCCCTGCCCTGCAGCATCTGGCTGTGTAAACCCTCAAACCCTGGTCCAGGTGGTTTCCTAAATGGCCCTCATGCCCCTGCCATCCTCCCCCAGGGAGATGCTGATGACACCCCCTATCTATCTGCACCAAGCTCACCACATACTCATCTGGGAACACGCATGGCTTACAGCGGTCTCCAGACCCGCAACCCCTCCCTGGGCCTTGCAGCTCCGATGACACCCCGTGGCTAACCCTGGGCCCCCTCTTCAGCACAGTCACCTGCTGAACAGCCAGGGTCCTTGGGTCCTGCCCCCCAGGAGGCGACCCTTAGACCTGGGGTGAACCCAGCTCCCAGAGGTCCTGTGCCATGGAGGGAGTGCCACATTTGCAGGGAGAGCTACCCTGAAGGCCAAAACAGGCGCCAACAAGAGCAGCTGGAATCCAATCGCACCCTTCCCGGGGAGCAGAAGGCAGTCCTGCCAGGTCCCCAAACTGTACAGGGGCCAGGGAGGTTCCCTCAGAAGCAGTTCTCGGCAGAAGGGAACCAGGCTTGGCAGGTGTAGAGAGCCAGGGCCAGGTGGAAAGCCAAGCCCCAGGGTGACAGCGCCGGGGATTAGTTCATTAATTCAGTTCGGGCATCTGGCCAGCCAGGCGGGAAGAGTCCCGCCTCCCTGCAGCAGGTGTGCTGACTCAGCACTGGGCCTCGGTGGCTGTGAAGTTACCTGAGAAGTTTGCAGAGGTGATCAGGGCCAGGCCCAGAGCGCTTAGCAAGAAAAAGGATGTGACTTGCAGGGATAGCCCTGGAGCCCCTTATCTCAAGGACTCCCACTTCCACAGCCCAAGAGGCTCCTGGGAGGACACGCCACTGTCCTAGAATGAACCTCCAACTCCTGACCCACCTCTGCAGCACCTCCCCGCAACGCCACTATTCTCAGGGGCCCTCCGACTGGAGACAAGCGGCGTCGGCTCTGCGTCTCAGGATGGGGGTGTCTTCGGAGGATGAATGAGGCCAGTATGTGAGGTGCAGGTGCAACGCCATTTACAACCTGGAGGGCATCGTCTCCTTCTCATGCCCTAGAGTTAGGAGCTCACGGAGCCCTCAGGAATCGGGCCTGTCTTCCCTGCCCACTCCACCCTCCAGCAGCCACTCCCGACCTCACCGGGCCTCTCACCCACTGCTCTCTTGGGTTTGTCTTGGCAGCAAGAGCCCATCCTCCTGGCTGCCCACACATCTGCTTGGCCTCCTGAGCTCCCAGCACTGAGTATGTTTGACACTCAGACCTTCTGGGTTTGTCCACTGTCACTTCTTTCTTTCTATTGCTGCACTGAGAGTACACCCAGCCACCCCCACC
Task1_train_28425
A sequence alteration has been identified in CBS (cystathionine beta-synthase) on Chromosome 21. Is it disease-inducing or harmless?
Pathogenic; Classic homocystinuria
CTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCTGGTGGCCTCCGGCAAGCCACGTGACCAACCTGACCCTCGGTGTGTCTGTCTGTAAAACGGGCATTCCAAAACCTACTTCAAGGGCAACCACCAAGTTTAGACGTCATCCTGTACGGAGCACAGTGAGCCAGCCACGCGTGCTGCGTACGAGTTAAGGGTCCCTATTGTCTGACAAATGAGCACAGAGCCGGCCCTGCTGCCTTGGGGGTCTCTGTGAAGGGGGCTGCTCTGCTGCAGCTCCGAGATCTCCTTCCCTAGAGGGGGGCAGAGGAGGGCCAGGCTCCCACGAGGCCCCTCCTGTGAATCGGCGATCGGTTCCCAACGCACCGACCCCTGACTTCCTTCCCCCAGCGCCTGCCCCAGCTCTCACAGGTCCCCCGGCTGGGACATTAGAGCATCTCAGGATGAAAAAGTCCCAAGCCATGTTACTGGTTCCCTCTCCTTCCCACTCGAACTCCACCCCCTCCATCTGGCCCTGTCGCGGGGTTCTCCGCGGCACCCTTCCTGCCTCCCTCCGAACTCACTTGGCCTTGGTCATCTGAAATACGAAATTCCGTCCCCGCCTTGTCCCCAAGGCCTCTGCACCCACAGCTTTCTCTGTGACGATGCTGAGGTCTACCAGGGCTCTGCGCTCTTGGTGAAGAGCGACCCTTAGGAATTCCCTCCACGTTCTTGAGCCTGGAAACTGCGTCCTGCAAAGAAATGCCCTTCCCCGGAGGCCTCAGACCACACCTCAGGTGACCCCCTGCGCACCCAGGACGAGGCCAGCCACAGACCCTCCAAATTCCCATTCTCTGTCTCATAAATGATGAGCTGAACTATCTGTCCCCACGAAGCTGGCAAGACAGAGGTAACCGCTCCCTGGACAGCGGGTGGCTCACAGCACGTGCTAGGACCCGTCCACTGCTCCTTAGCAGGCATGACGCTAACCCTCCCCACCTGCTTGCTTCTGCCTTTGACCCTCACCCGGCCCTTCACACCCTCGCTGCTTCCACTCCGGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCATCTGCTGGGGAGTCACTTTGGTCACCCTCTGACACAATGCCCTGTTGTGTGTTTTTCCCAAACTTAAGCTGATATGTTCTTGGCCACTCATTAACCAGCGAGTTTTCTGATCCCAGGGCCTTGCCTAAGGGATCCATCCCAGGACCCCCCAGGACCCCCCAGGCCCACGGAGCCCAGTGTAGATGGAGGAAGCCCCTCTCCAAAGCCAGGGCACTCACAGAGCTCACACTTCAGGCCGAACTTCTTCCCAATCTTGTTGATTCTGACCATAGGGGTGTCCCCGATTTTCTTCAGAATATCTGGCAAGATTTTTGGAGATTTTGCCCTGAAACAGAGGAGTCCACAATTATTCAGGAAAAAAAAAAAAAATAGTACCAGCCCTGGCAGACATTGTCTTACACAAATCAACACTCGAAGAACTGGAAAAAAAAAAAAAAAAAAAAAAAAAGAACTGGCTTTATCTGGGTGGTGGTTACACAAATCTGTACACAGATACACCTAACACACATCCCACACACACGCCTGAAACACACATACACACACATGCTTAGACATACAAATCTATAAAAAGCAAATCATGCCTGTGGTTTATTTGCACCAATGCCAGCTTCCCAGGTTTGAAAATGAACCTACAGTCGTGGCAGATGTTGTTAGTGGGAAGCTGGGAGAAGGGTACAAAGGATCTATTATTTTTGCCACTTATTGTGAGTAGTAAATTATTTCCAAATAAAAAAGTTAAAATAAGCAAATACTGACTCCAAAACAAAGGTTTAGGTCCACCTTTTCAGAAAGGCTTTACTGGAGATGACATTTCCTTTCATCTCTCAGCATGTGACCATAGGAAGCAAAAAAGTGTCAGGGCAGAGACTCCTTAGACCAGGGACAATGGCTGCAAAGCGCAGGCGGGATGTCTAGCCCTGCACAGAAAATGTCAGGCACGTGGCAGACTCAGAGCCCCGGCAGAGGCGCTGTCGGCCAGGCTCGTGATGCCCTGCCCTGCAGCATCTGGCTGTGTAAACCCTCAAACCCTGGTCCAGGTGGTTTCCTAAATGGCCCTCATGCCCCTGCCATCCTCCCCCAGGGAGATGCTGATGACACCCCCTATCTATCTGCACCAAGCTCACCACATACTCATCTGGGAACACGCATGGCTTACAGCGGTCTCCAGACCCGCAACCCCTCCCTGGGCCTTGCAGCTCCGATGACACCCCGTGGCTAACCCTGGGCCCCCTCTTCAGCACAGTCACCTGCTGAACAGCCAGGGTCCTTGGGTCCTGCCCCCCAGGAGGCGACCCTTAGACCTGGGGTGAACCCAGCTCCCAGAGGTCCTGTGCCATGGAGGGAGTGCCACATTTGCAGGGAGAGCTACCCTGAAGGCCAAAACAGGCGCCAACAAGAGCAGCTGGAATCCAATCGCACCCTTCCCGGGGAGCAGAAGGCAGTCCTGCCAGGTCCCCAAACTGTACAGGGGCCAGGGAGGTTCCCTCAGAAGCAGTTCTCGGCAGAAGGGAACCAGGCTTGGCAGGTGTAGAGAGCCAGGGCCAGGTGGAAAGCCAAGCCCCAGGGTGACAGCGCCGGGGATTAGTTCATTAATTCAGTTCGGGCATCTGGCCAGCCAGGCGGGAAGAGTCCCGCCTCCCTGCAGCAGGTGTGCTGACTCAGCACTGGGCCTCGGTGGCTGTGAAGTTACCTGAGAAGTTTGCAGAGGTGATCAGGGCCAGGCCCAGAGCGCTTAGCAAGAAAAAGGATGTGACTTGCAGGGATAGCCCTGGAGCCCCTTATCTCAAGGACTCCCACTTCCACAGCCCAAGAGGCTCCTGGGAGGACACGCCACTGTCCTAGAATGAACCTCCAACTCCTGACCCACCTCTGCAGCACCTCCCCGCAACGCCACTATTCTCAGGGGCCCTCCGACTGGAGACAAGCGGCGTCGGCTCTGCGTCTCAGGATGGGGGTGTCTTCGGAGGATGAATGAGGCCAGTATGTGAGGTGCAGGTGCAACGCCATTTACAACCTGGAGGGCATCGTCTCCTTCTCATGCCCTAGAGTTAGGAGCTCACGGAGCCCTCAGGAATCGGGCCTGTCTTCCCTGCCCACTCCACCCTCCAGCAGCCACTCCCGACCTCACCGGGCCTCTCACCCACTGCTCTCTTGGGTTTGTCTTGGCAGCAAGAGCCCATCCTCCTGGCTGCCCACACATCTGCTTGGCCTCCTGAGCTCCCAGCACTGAGTATGTTTGACACTCAGACCTTCTGGGTTTGTCCACTGTCACTTCTTTCTTTCTATTGCTGCACTGAGAGTACACCCAGCCACCCCCACC
CTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCTGGTGGCCTCCGGCAAGCCACGTGACCAACCTGACCCTCGGTGTGTCTGTCTGTAAAACGGGCATTCCAAAACCTACTTCAAGGGCAACCACCAAGTTTAGACGTCATCCTGTACGGAGCACAGTGAGCCAGCCACGCGTGCTGCGTACGAGTTAAGGGTCCCTATTGTCTGACAAATGAGCACAGAGCCGGCCCTGCTGCCTTGGGGGTCTCTGTGAAGGGGGCTGCTCTGCTGCAGCTCCGAGATCTCCTTCCCTAGAGGGGGGCAGAGGAGGGCCAGGCTCCCACGAGGCCCCTCCTGTGAATCGGCGATCGGTTCCCAACGCACCGACCCCTGACTTCCTTCCCCCAGCGCCTGCCCCAGCTCTCACAGGTCCCCCGGCTGGGACATTAGAGCATCTCAGGATGAAAAAGTCCCAAGCCATGTTACTGGTTCCCTCTCCTTCCCACTCGAACTCCACCCCCTCCATCTGGCCCTGTCGCGGGGTTCTCCGCGGCACCCTTCCTGCCTCCCTCCGAACTCACTTGGCCTTGGTCATCTGAAATACGAAATTCCGTCCCCGCCTTGTCCCCAAGGCCTCTGCACCCACAGCTTTCTCTGTGACGATGCTGAGGTCTACCAGGGCTCTGCGCTCTTGGTGAAGAGCGACCCTTAGGAATTCCCTCCACGTTCTTGAGCCTGGAAACTGCGTCCTGCAAAGAAATGCCCTTCCCCGGAGGCCTCAGACCACACCTCAGGTGACCCCCTGCGCACCCAGGACGAGGCCAGCCACAGACCCTCCAAATTCCCATTCTCTGTCTCATAAATGATGAGCTGAACTATCTGTCCCCACGAAGCTGGCAAGACAGAGGTAACCGCTCCCTGGACAGCGGGTGGCTCACAGCACGTGCTAGGACCCGTCCACTGCTCCTTAGCAGGCATGACGCTAACCCTCCCCACCTGCTTGCTTCTGCCTTTGACCCTCACCCGGCCCTTCACACCCTCGCTGCTTCCACTCCGGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCATCTGCTGGGGAGTCACTTTGGTCACCCTCTGACACAATGCCCTGTTGTGTGTTTTTCCCAAACTTAAGCTGATATGTTCTTGGCCACTCATTAACCAGCGAGTTTTCTGATCCCAGGGCCTTGCCTAAGGGATCCATCCCAGGACCCCCCAGGACCCCCCAGGCCCACGGAGCCCAGTGTAGATGGAGGAAGCCCCTCTCCAAAGCCAGGGCACTCACAGAGCTCACACTTCAGGCCGAACTTCTTCCCAATCTTGTTGATTCTGACCATAGAGGTGTCCCCGATTTTCTTCAGAATATCTGGCAAGATTTTTGGAGATTTTGCCCTGAAACAGAGGAGTCCACAATTATTCAGGAAAAAAAAAAAAAATAGTACCAGCCCTGGCAGACATTGTCTTACACAAATCAACACTCGAAGAACTGGAAAAAAAAAAAAAAAAAAAAAAAAAGAACTGGCTTTATCTGGGTGGTGGTTACACAAATCTGTACACAGATACACCTAACACACATCCCACACACACGCCTGAAACACACATACACACACATGCTTAGACATACAAATCTATAAAAAGCAAATCATGCCTGTGGTTTATTTGCACCAATGCCAGCTTCCCAGGTTTGAAAATGAACCTACAGTCGTGGCAGATGTTGTTAGTGGGAAGCTGGGAGAAGGGTACAAAGGATCTATTATTTTTGCCACTTATTGTGAGTAGTAAATTATTTCCAAATAAAAAAGTTAAAATAAGCAAATACTGACTCCAAAACAAAGGTTTAGGTCCACCTTTTCAGAAAGGCTTTACTGGAGATGACATTTCCTTTCATCTCTCAGCATGTGACCATAGGAAGCAAAAAAGTGTCAGGGCAGAGACTCCTTAGACCAGGGACAATGGCTGCAAAGCGCAGGCGGGATGTCTAGCCCTGCACAGAAAATGTCAGGCACGTGGCAGACTCAGAGCCCCGGCAGAGGCGCTGTCGGCCAGGCTCGTGATGCCCTGCCCTGCAGCATCTGGCTGTGTAAACCCTCAAACCCTGGTCCAGGTGGTTTCCTAAATGGCCCTCATGCCCCTGCCATCCTCCCCCAGGGAGATGCTGATGACACCCCCTATCTATCTGCACCAAGCTCACCACATACTCATCTGGGAACACGCATGGCTTACAGCGGTCTCCAGACCCGCAACCCCTCCCTGGGCCTTGCAGCTCCGATGACACCCCGTGGCTAACCCTGGGCCCCCTCTTCAGCACAGTCACCTGCTGAACAGCCAGGGTCCTTGGGTCCTGCCCCCCAGGAGGCGACCCTTAGACCTGGGGTGAACCCAGCTCCCAGAGGTCCTGTGCCATGGAGGGAGTGCCACATTTGCAGGGAGAGCTACCCTGAAGGCCAAAACAGGCGCCAACAAGAGCAGCTGGAATCCAATCGCACCCTTCCCGGGGAGCAGAAGGCAGTCCTGCCAGGTCCCCAAACTGTACAGGGGCCAGGGAGGTTCCCTCAGAAGCAGTTCTCGGCAGAAGGGAACCAGGCTTGGCAGGTGTAGAGAGCCAGGGCCAGGTGGAAAGCCAAGCCCCAGGGTGACAGCGCCGGGGATTAGTTCATTAATTCAGTTCGGGCATCTGGCCAGCCAGGCGGGAAGAGTCCCGCCTCCCTGCAGCAGGTGTGCTGACTCAGCACTGGGCCTCGGTGGCTGTGAAGTTACCTGAGAAGTTTGCAGAGGTGATCAGGGCCAGGCCCAGAGCGCTTAGCAAGAAAAAGGATGTGACTTGCAGGGATAGCCCTGGAGCCCCTTATCTCAAGGACTCCCACTTCCACAGCCCAAGAGGCTCCTGGGAGGACACGCCACTGTCCTAGAATGAACCTCCAACTCCTGACCCACCTCTGCAGCACCTCCCCGCAACGCCACTATTCTCAGGGGCCCTCCGACTGGAGACAAGCGGCGTCGGCTCTGCGTCTCAGGATGGGGGTGTCTTCGGAGGATGAATGAGGCCAGTATGTGAGGTGCAGGTGCAACGCCATTTACAACCTGGAGGGCATCGTCTCCTTCTCATGCCCTAGAGTTAGGAGCTCACGGAGCCCTCAGGAATCGGGCCTGTCTTCCCTGCCCACTCCACCCTCCAGCAGCCACTCCCGACCTCACCGGGCCTCTCACCCACTGCTCTCTTGGGTTTGTCTTGGCAGCAAGAGCCCATCCTCCTGGCTGCCCACACATCTGCTTGGCCTCCTGAGCTCCCAGCACTGAGTATGTTTGACACTCAGACCTTCTGGGTTTGTCCACTGTCACTTCTTTCTTTCTATTGCTGCACTGAGAGTACACCCAGCCACCCCCACC
Task1_train_28426
Given this context: Chromosome 21, gene CBS (cystathionine beta-synthase) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Classic homocystinuria
CCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCTGGTGGCCTCCGGCAAGCCACGTGACCAACCTGACCCTCGGTGTGTCTGTCTGTAAAACGGGCATTCCAAAACCTACTTCAAGGGCAACCACCAAGTTTAGACGTCATCCTGTACGGAGCACAGTGAGCCAGCCACGCGTGCTGCGTACGAGTTAAGGGTCCCTATTGTCTGACAAATGAGCACAGAGCCGGCCCTGCTGCCTTGGGGGTCTCTGTGAAGGGGGCTGCTCTGCTGCAGCTCCGAGATCTCCTTCCCTAGAGGGGGGCAGAGGAGGGCCAGGCTCCCACGAGGCCCCTCCTGTGAATCGGCGATCGGTTCCCAACGCACCGACCCCTGACTTCCTTCCCCCAGCGCCTGCCCCAGCTCTCACAGGTCCCCCGGCTGGGACATTAGAGCATCTCAGGATGAAAAAGTCCCAAGCCATGTTACTGGTTCCCTCTCCTTCCCACTCGAACTCCACCCCCTCCATCTGGCCCTGTCGCGGGGTTCTCCGCGGCACCCTTCCTGCCTCCCTCCGAACTCACTTGGCCTTGGTCATCTGAAATACGAAATTCCGTCCCCGCCTTGTCCCCAAGGCCTCTGCACCCACAGCTTTCTCTGTGACGATGCTGAGGTCTACCAGGGCTCTGCGCTCTTGGTGAAGAGCGACCCTTAGGAATTCCCTCCACGTTCTTGAGCCTGGAAACTGCGTCCTGCAAAGAAATGCCCTTCCCCGGAGGCCTCAGACCACACCTCAGGTGACCCCCTGCGCACCCAGGACGAGGCCAGCCACAGACCCTCCAAATTCCCATTCTCTGTCTCATAAATGATGAGCTGAACTATCTGTCCCCACGAAGCTGGCAAGACAGAGGTAACCGCTCCCTGGACAGCGGGTGGCTCACAGCACGTGCTAGGACCCGTCCACTGCTCCTTAGCAGGCATGACGCTAACCCTCCCCACCTGCTTGCTTCTGCCTTTGACCCTCACCCGGCCCTTCACACCCTCGCTGCTTCCACTCCGGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCATCTGCTGGGGAGTCACTTTGGTCACCCTCTGACACAATGCCCTGTTGTGTGTTTTTCCCAAACTTAAGCTGATATGTTCTTGGCCACTCATTAACCAGCGAGTTTTCTGATCCCAGGGCCTTGCCTAAGGGATCCATCCCAGGACCCCCCAGGACCCCCCAGGCCCACGGAGCCCAGTGTAGATGGAGGAAGCCCCTCTCCAAAGCCAGGGCACTCACAGAGCTCACACTTCAGGCCGAACTTCTTCCCAATCTTGTTGATTCTGACCATAGGGGTGTCCCCGATTTTCTTCAGAATATCTGGCAAGATTTTTGGAGATTTTGCCCTGAAACAGAGGAGTCCACAATTATTCAGGAAAAAAAAAAAAAATAGTACCAGCCCTGGCAGACATTGTCTTACACAAATCAACACTCGAAGAACTGGAAAAAAAAAAAAAAAAAAAAAAAAAGAACTGGCTTTATCTGGGTGGTGGTTACACAAATCTGTACACAGATACACCTAACACACATCCCACACACACGCCTGAAACACACATACACACACATGCTTAGACATACAAATCTATAAAAAGCAAATCATGCCTGTGGTTTATTTGCACCAATGCCAGCTTCCCAGGTTTGAAAATGAACCTACAGTCGTGGCAGATGTTGTTAGTGGGAAGCTGGGAGAAGGGTACAAAGGATCTATTATTTTTGCCACTTATTGTGAGTAGTAAATTATTTCCAAATAAAAAAGTTAAAATAAGCAAATACTGACTCCAAAACAAAGGTTTAGGTCCACCTTTTCAGAAAGGCTTTACTGGAGATGACATTTCCTTTCATCTCTCAGCATGTGACCATAGGAAGCAAAAAAGTGTCAGGGCAGAGACTCCTTAGACCAGGGACAATGGCTGCAAAGCGCAGGCGGGATGTCTAGCCCTGCACAGAAAATGTCAGGCACGTGGCAGACTCAGAGCCCCGGCAGAGGCGCTGTCGGCCAGGCTCGTGATGCCCTGCCCTGCAGCATCTGGCTGTGTAAACCCTCAAACCCTGGTCCAGGTGGTTTCCTAAATGGCCCTCATGCCCCTGCCATCCTCCCCCAGGGAGATGCTGATGACACCCCCTATCTATCTGCACCAAGCTCACCACATACTCATCTGGGAACACGCATGGCTTACAGCGGTCTCCAGACCCGCAACCCCTCCCTGGGCCTTGCAGCTCCGATGACACCCCGTGGCTAACCCTGGGCCCCCTCTTCAGCACAGTCACCTGCTGAACAGCCAGGGTCCTTGGGTCCTGCCCCCCAGGAGGCGACCCTTAGACCTGGGGTGAACCCAGCTCCCAGAGGTCCTGTGCCATGGAGGGAGTGCCACATTTGCAGGGAGAGCTACCCTGAAGGCCAAAACAGGCGCCAACAAGAGCAGCTGGAATCCAATCGCACCCTTCCCGGGGAGCAGAAGGCAGTCCTGCCAGGTCCCCAAACTGTACAGGGGCCAGGGAGGTTCCCTCAGAAGCAGTTCTCGGCAGAAGGGAACCAGGCTTGGCAGGTGTAGAGAGCCAGGGCCAGGTGGAAAGCCAAGCCCCAGGGTGACAGCGCCGGGGATTAGTTCATTAATTCAGTTCGGGCATCTGGCCAGCCAGGCGGGAAGAGTCCCGCCTCCCTGCAGCAGGTGTGCTGACTCAGCACTGGGCCTCGGTGGCTGTGAAGTTACCTGAGAAGTTTGCAGAGGTGATCAGGGCCAGGCCCAGAGCGCTTAGCAAGAAAAAGGATGTGACTTGCAGGGATAGCCCTGGAGCCCCTTATCTCAAGGACTCCCACTTCCACAGCCCAAGAGGCTCCTGGGAGGACACGCCACTGTCCTAGAATGAACCTCCAACTCCTGACCCACCTCTGCAGCACCTCCCCGCAACGCCACTATTCTCAGGGGCCCTCCGACTGGAGACAAGCGGCGTCGGCTCTGCGTCTCAGGATGGGGGTGTCTTCGGAGGATGAATGAGGCCAGTATGTGAGGTGCAGGTGCAACGCCATTTACAACCTGGAGGGCATCGTCTCCTTCTCATGCCCTAGAGTTAGGAGCTCACGGAGCCCTCAGGAATCGGGCCTGTCTTCCCTGCCCACTCCACCCTCCAGCAGCCACTCCCGACCTCACCGGGCCTCTCACCCACTGCTCTCTTGGGTTTGTCTTGGCAGCAAGAGCCCATCCTCCTGGCTGCCCACACATCTGCTTGGCCTCCTGAGCTCCCAGCACTGAGTATGTTTGACACTCAGACCTTCTGGGTTTGTCCACTGTCACTTCTTTCTTTCTATTGCTGCACTGAGAGTACACCCAGCCACCCCCACCCATTCTGAA
CCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCTGGTGGCCTCCGGCAAGCCACGTGACCAACCTGACCCTCGGTGTGTCTGTCTGTAAAACGGGCATTCCAAAACCTACTTCAAGGGCAACCACCAAGTTTAGACGTCATCCTGTACGGAGCACAGTGAGCCAGCCACGCGTGCTGCGTACGAGTTAAGGGTCCCTATTGTCTGACAAATGAGCACAGAGCCGGCCCTGCTGCCTTGGGGGTCTCTGTGAAGGGGGCTGCTCTGCTGCAGCTCCGAGATCTCCTTCCCTAGAGGGGGGCAGAGGAGGGCCAGGCTCCCACGAGGCCCCTCCTGTGAATCGGCGATCGGTTCCCAACGCACCGACCCCTGACTTCCTTCCCCCAGCGCCTGCCCCAGCTCTCACAGGTCCCCCGGCTGGGACATTAGAGCATCTCAGGATGAAAAAGTCCCAAGCCATGTTACTGGTTCCCTCTCCTTCCCACTCGAACTCCACCCCCTCCATCTGGCCCTGTCGCGGGGTTCTCCGCGGCACCCTTCCTGCCTCCCTCCGAACTCACTTGGCCTTGGTCATCTGAAATACGAAATTCCGTCCCCGCCTTGTCCCCAAGGCCTCTGCACCCACAGCTTTCTCTGTGACGATGCTGAGGTCTACCAGGGCTCTGCGCTCTTGGTGAAGAGCGACCCTTAGGAATTCCCTCCACGTTCTTGAGCCTGGAAACTGCGTCCTGCAAAGAAATGCCCTTCCCCGGAGGCCTCAGACCACACCTCAGGTGACCCCCTGCGCACCCAGGACGAGGCCAGCCACAGACCCTCCAAATTCCCATTCTCTGTCTCATAAATGATGAGCTGAACTATCTGTCCCCACGAAGCTGGCAAGACAGAGGTAACCGCTCCCTGGACAGCGGGTGGCTCACAGCACGTGCTAGGACCCGTCCACTGCTCCTTAGCAGGCATGACGCTAACCCTCCCCACCTGCTTGCTTCTGCCTTTGACCCTCACCCGGCCCTTCACACCCTCGCTGCTTCCACTCCGGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCATCTGCTGGGGAGTCACTTTGGTCACCCTCTGACACAATGCCCTGTTGTGTGTTTTTCCCAAACTTAAGCTGATATGTTCTTGGCCACTCATTAACCAGCGAGTTTTCTGATCCCAGGGCCTTGCCTAAGGGATCCATCCCAGGACCCCCCAGGACCCCCCAGGCCCACGGAGCCCAGTGTAGATGGAGGAAGCCCCTCTCCAAAGCCAGGGCACTCACAGAGCTCACACTTCAGGCCGAACTTCTTCCCAATCTTGTTGATTCTGACCATAGGGGTGTCCCTGATTTTCTTCAGAATATCTGGCAAGATTTTTGGAGATTTTGCCCTGAAACAGAGGAGTCCACAATTATTCAGGAAAAAAAAAAAAAATAGTACCAGCCCTGGCAGACATTGTCTTACACAAATCAACACTCGAAGAACTGGAAAAAAAAAAAAAAAAAAAAAAAAAGAACTGGCTTTATCTGGGTGGTGGTTACACAAATCTGTACACAGATACACCTAACACACATCCCACACACACGCCTGAAACACACATACACACACATGCTTAGACATACAAATCTATAAAAAGCAAATCATGCCTGTGGTTTATTTGCACCAATGCCAGCTTCCCAGGTTTGAAAATGAACCTACAGTCGTGGCAGATGTTGTTAGTGGGAAGCTGGGAGAAGGGTACAAAGGATCTATTATTTTTGCCACTTATTGTGAGTAGTAAATTATTTCCAAATAAAAAAGTTAAAATAAGCAAATACTGACTCCAAAACAAAGGTTTAGGTCCACCTTTTCAGAAAGGCTTTACTGGAGATGACATTTCCTTTCATCTCTCAGCATGTGACCATAGGAAGCAAAAAAGTGTCAGGGCAGAGACTCCTTAGACCAGGGACAATGGCTGCAAAGCGCAGGCGGGATGTCTAGCCCTGCACAGAAAATGTCAGGCACGTGGCAGACTCAGAGCCCCGGCAGAGGCGCTGTCGGCCAGGCTCGTGATGCCCTGCCCTGCAGCATCTGGCTGTGTAAACCCTCAAACCCTGGTCCAGGTGGTTTCCTAAATGGCCCTCATGCCCCTGCCATCCTCCCCCAGGGAGATGCTGATGACACCCCCTATCTATCTGCACCAAGCTCACCACATACTCATCTGGGAACACGCATGGCTTACAGCGGTCTCCAGACCCGCAACCCCTCCCTGGGCCTTGCAGCTCCGATGACACCCCGTGGCTAACCCTGGGCCCCCTCTTCAGCACAGTCACCTGCTGAACAGCCAGGGTCCTTGGGTCCTGCCCCCCAGGAGGCGACCCTTAGACCTGGGGTGAACCCAGCTCCCAGAGGTCCTGTGCCATGGAGGGAGTGCCACATTTGCAGGGAGAGCTACCCTGAAGGCCAAAACAGGCGCCAACAAGAGCAGCTGGAATCCAATCGCACCCTTCCCGGGGAGCAGAAGGCAGTCCTGCCAGGTCCCCAAACTGTACAGGGGCCAGGGAGGTTCCCTCAGAAGCAGTTCTCGGCAGAAGGGAACCAGGCTTGGCAGGTGTAGAGAGCCAGGGCCAGGTGGAAAGCCAAGCCCCAGGGTGACAGCGCCGGGGATTAGTTCATTAATTCAGTTCGGGCATCTGGCCAGCCAGGCGGGAAGAGTCCCGCCTCCCTGCAGCAGGTGTGCTGACTCAGCACTGGGCCTCGGTGGCTGTGAAGTTACCTGAGAAGTTTGCAGAGGTGATCAGGGCCAGGCCCAGAGCGCTTAGCAAGAAAAAGGATGTGACTTGCAGGGATAGCCCTGGAGCCCCTTATCTCAAGGACTCCCACTTCCACAGCCCAAGAGGCTCCTGGGAGGACACGCCACTGTCCTAGAATGAACCTCCAACTCCTGACCCACCTCTGCAGCACCTCCCCGCAACGCCACTATTCTCAGGGGCCCTCCGACTGGAGACAAGCGGCGTCGGCTCTGCGTCTCAGGATGGGGGTGTCTTCGGAGGATGAATGAGGCCAGTATGTGAGGTGCAGGTGCAACGCCATTTACAACCTGGAGGGCATCGTCTCCTTCTCATGCCCTAGAGTTAGGAGCTCACGGAGCCCTCAGGAATCGGGCCTGTCTTCCCTGCCCACTCCACCCTCCAGCAGCCACTCCCGACCTCACCGGGCCTCTCACCCACTGCTCTCTTGGGTTTGTCTTGGCAGCAAGAGCCCATCCTCCTGGCTGCCCACACATCTGCTTGGCCTCCTGAGCTCCCAGCACTGAGTATGTTTGACACTCAGACCTTCTGGGTTTGTCCACTGTCACTTCTTTCTTTCTATTGCTGCACTGAGAGTACACCCAGCCACCCCCACCCATTCTGAA
Task1_train_28427
Given this context: Chromosome 21, gene CBS (cystathionine beta-synthase) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCTGGTGGCCTCCGGCAAGCCACGTGACCAACCTGACCCTCGGTGTGTCTGTCTGTAAAACGGGCATTCCAAAACCTACTTCAAGGGCAACCACCAAGTTTAGACGTCATCCTGTACGGAGCACAGTGAGCCAGCCACGCGTGCTGCGTACGAGTTAAGGGTCCCTATTGTCTGACAAATGAGCACAGAGCCGGCCCTGCTGCCTTGGGGGTCTCTGTGAAGGGGGCTGCTCTGCTGCAGCTCCGAGATCTCCTTCCCTAGAGGGGGGCAGAGGAGGGCCAGGCTCCCACGAGGCCCCTCCTGTGAATCGGCGATCGGTTCCCAACGCACCGACCCCTGACTTCCTTCCCCCAGCGCCTGCCCCAGCTCTCACAGGTCCCCCGGCTGGGACATTAGAGCATCTCAGGATGAAAAAGTCCCAAGCCATGTTACTGGTTCCCTCTCCTTCCCACTCGAACTCCACCCCCTCCATCTGGCCCTGTCGCGGGGTTCTCCGCGGCACCCTTCCTGCCTCCCTCCGAACTCACTTGGCCTTGGTCATCTGAAATACGAAATTCCGTCCCCGCCTTGTCCCCAAGGCCTCTGCACCCACAGCTTTCTCTGTGACGATGCTGAGGTCTACCAGGGCTCTGCGCTCTTGGTGAAGAGCGACCCTTAGGAATTCCCTCCACGTTCTTGAGCCTGGAAACTGCGTCCTGCAAAGAAATGCCCTTCCCCGGAGGCCTCAGACCACACCTCAGGTGACCCCCTGCGCACCCAGGACGAGGCCAGCCACAGACCCTCCAAATTCCCATTCTCTGTCTCATAAATGATGAGCTGAACTATCTGTCCCCACGAAGCTGGCAAGACAGAGGTAACCGCTCCCTGGACAGCGGGTGGCTCACAGCACGTGCTAGGACCCGTCCACTGCTCCTTAGCAGGCATGACGCTAACCCTCCCCACCTGCTTGCTTCTGCCTTTGACCCTCACCCGGCCCTTCACACCCTCGCTGCTTCCACTCCGGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCATCTGCTGGGGAGTCACTTTGGTCACCCTCTGACACAATGCCCTGTTGTGTGTTTTTCCCAAACTTAAGCTGATATGTTCTTGGCCACTCATTAACCAGCGAGTTTTCTGATCCCAGGGCCTTGCCTAAGGGATCCATCCCAGGACCCCCCAGGACCCCCCAGGCCCACGGAGCCCAGTGTAGATGGAGGAAGCCCCTCTCCAAAGCCAGGGCACTCACAGAGCTCACACTTCAGGCCGAACTTCTTCCCAATCTTGTTGATTCTGACCATAGGGGTGTCCCCGATTTTCTTCAGAATATCTGGCAAGATTTTTGGAGATTTTGCCCTGAAACAGAGGAGTCCACAATTATTCAGGAAAAAAAAAAAAAATAGTACCAGCCCTGGCAGACATTGTCTTACACAAATCAACACTCGAAGAACTGGAAAAAAAAAAAAAAAAAAAAAAAAAGAACTGGCTTTATCTGGGTGGTGGTTACACAAATCTGTACACAGATACACCTAACACACATCCCACACACACGCCTGAAACACACATACACACACATGCTTAGACATACAAATCTATAAAAAGCAAATCATGCCTGTGGTTTATTTGCACCAATGCCAGCTTCCCAGGTTTGAAAATGAACCTACAGTCGTGGCAGATGTTGTTAGTGGGAAGCTGGGAGAAGGGTACAAAGGATCTATTATTTTTGCCACTTATTGTGAGTAGTAAATTATTTCCAAATAAAAAAGTTAAAATAAGCAAATACTGACTCCAAAACAAAGGTTTAGGTCCACCTTTTCAGAAAGGCTTTACTGGAGATGACATTTCCTTTCATCTCTCAGCATGTGACCATAGGAAGCAAAAAAGTGTCAGGGCAGAGACTCCTTAGACCAGGGACAATGGCTGCAAAGCGCAGGCGGGATGTCTAGCCCTGCACAGAAAATGTCAGGCACGTGGCAGACTCAGAGCCCCGGCAGAGGCGCTGTCGGCCAGGCTCGTGATGCCCTGCCCTGCAGCATCTGGCTGTGTAAACCCTCAAACCCTGGTCCAGGTGGTTTCCTAAATGGCCCTCATGCCCCTGCCATCCTCCCCCAGGGAGATGCTGATGACACCCCCTATCTATCTGCACCAAGCTCACCACATACTCATCTGGGAACACGCATGGCTTACAGCGGTCTCCAGACCCGCAACCCCTCCCTGGGCCTTGCAGCTCCGATGACACCCCGTGGCTAACCCTGGGCCCCCTCTTCAGCACAGTCACCTGCTGAACAGCCAGGGTCCTTGGGTCCTGCCCCCCAGGAGGCGACCCTTAGACCTGGGGTGAACCCAGCTCCCAGAGGTCCTGTGCCATGGAGGGAGTGCCACATTTGCAGGGAGAGCTACCCTGAAGGCCAAAACAGGCGCCAACAAGAGCAGCTGGAATCCAATCGCACCCTTCCCGGGGAGCAGAAGGCAGTCCTGCCAGGTCCCCAAACTGTACAGGGGCCAGGGAGGTTCCCTCAGAAGCAGTTCTCGGCAGAAGGGAACCAGGCTTGGCAGGTGTAGAGAGCCAGGGCCAGGTGGAAAGCCAAGCCCCAGGGTGACAGCGCCGGGGATTAGTTCATTAATTCAGTTCGGGCATCTGGCCAGCCAGGCGGGAAGAGTCCCGCCTCCCTGCAGCAGGTGTGCTGACTCAGCACTGGGCCTCGGTGGCTGTGAAGTTACCTGAGAAGTTTGCAGAGGTGATCAGGGCCAGGCCCAGAGCGCTTAGCAAGAAAAAGGATGTGACTTGCAGGGATAGCCCTGGAGCCCCTTATCTCAAGGACTCCCACTTCCACAGCCCAAGAGGCTCCTGGGAGGACACGCCACTGTCCTAGAATGAACCTCCAACTCCTGACCCACCTCTGCAGCACCTCCCCGCAACGCCACTATTCTCAGGGGCCCTCCGACTGGAGACAAGCGGCGTCGGCTCTGCGTCTCAGGATGGGGGTGTCTTCGGAGGATGAATGAGGCCAGTATGTGAGGTGCAGGTGCAACGCCATTTACAACCTGGAGGGCATCGTCTCCTTCTCATGCCCTAGAGTTAGGAGCTCACGGAGCCCTCAGGAATCGGGCCTGTCTTCCCTGCCCACTCCACCCTCCAGCAGCCACTCCCGACCTCACCGGGCCTCTCACCCACTGCTCTCTTGGGTTTGTCTTGGCAGCAAGAGCCCATCCTCCTGGCTGCCCACACATCTGCTTGGCCTCCTGAGCTCCCAGCACTGAGTATGTTTGACACTCAGACCTTCTGGGTTTGTCCACTGTCACTTCTTTCTTTCTATTGCTGCACTGAGAGTACACCCAGCCACCCCCACCCATTCTGAA
CCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCTGGTGGCCTCCGGCAAGCCACGTGACCAACCTGACCCTCGGTGTGTCTGTCTGTAAAACGGGCATTCCAAAACCTACTTCAAGGGCAACCACCAAGTTTAGACGTCATCCTGTACGGAGCACAGTGAGCCAGCCACGCGTGCTGCGTACGAGTTAAGGGTCCCTATTGTCTGACAAATGAGCACAGAGCCGGCCCTGCTGCCTTGGGGGTCTCTGTGAAGGGGGCTGCTCTGCTGCAGCTCCGAGATCTCCTTCCCTAGAGGGGGGCAGAGGAGGGCCAGGCTCCCACGAGGCCCCTCCTGTGAATCGGCGATCGGTTCCCAACGCACCGACCCCTGACTTCCTTCCCCCAGCGCCTGCCCCAGCTCTCACAGGTCCCCCGGCTGGGACATTAGAGCATCTCAGGATGAAAAAGTCCCAAGCCATGTTACTGGTTCCCTCTCCTTCCCACTCGAACTCCACCCCCTCCATCTGGCCCTGTCGCGGGGTTCTCCGCGGCACCCTTCCTGCCTCCCTCCGAACTCACTTGGCCTTGGTCATCTGAAATACGAAATTCCGTCCCCGCCTTGTCCCCAAGGCCTCTGCACCCACAGCTTTCTCTGTGACGATGCTGAGGTCTACCAGGGCTCTGCGCTCTTGGTGAAGAGCGACCCTTAGGAATTCCCTCCACGTTCTTGAGCCTGGAAACTGCGTCCTGCAAAGAAATGCCCTTCCCCGGAGGCCTCAGACCACACCTCAGGTGACCCCCTGCGCACCCAGGACGAGGCCAGCCACAGACCCTCCAAATTCCCATTCTCTGTCTCATAAATGATGAGCTGAACTATCTGTCCCCACGAAGCTGGCAAGACAGAGGTAACCGCTCCCTGGACAGCGGGTGGCTCACAGCACGTGCTAGGACCCGTCCACTGCTCCTTAGCAGGCATGACGCTAACCCTCCCCACCTGCTTGCTTCTGCCTTTGACCCTCACCCGGCCCTTCACACCCTCGCTGCTTCCACTCCGGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCATCTGCTGGGGAGTCACTTTGGTCACCCTCTGACACAATGCCCTGTTGTGTGTTTTTCCCAAACTTAAGCTGATATGTTCTTGGCCACTCATTAACCAGCGAGTTTTCTGATCCCAGGGCCTTGCCTAAGGGATCCATCCCAGGACCCCCCAGGACCCCCCAGGCCCACGGAGCCCAGTGTAGATGGAGGAAGCCCCTCTCCAAAGCCAGGGCACTCACAGAGCTCACACTTCAGGCCGAACTTCTTCCCAATCTTGTTGATTCTGACCATAGGGGTGTCCCTGATTTTCTTCAGAATATCTGGCAAGATTTTTGGAGATTTTGCCCTGAAACAGAGGAGTCCACAATTATTCAGGAAAAAAAAAAAAAATAGTACCAGCCCTGGCAGACATTGTCTTACACAAATCAACACTCGAAGAACTGGAAAAAAAAAAAAAAAAAAAAAAAAAGAACTGGCTTTATCTGGGTGGTGGTTACACAAATCTGTACACAGATACACCTAACACACATCCCACACACACGCCTGAAACACACATACACACACATGCTTAGACATACAAATCTATAAAAAGCAAATCATGCCTGTGGTTTATTTGCACCAATGCCAGCTTCCCAGGTTTGAAAATGAACCTACAGTCGTGGCAGATGTTGTTAGTGGGAAGCTGGGAGAAGGGTACAAAGGATCTATTATTTTTGCCACTTATTGTGAGTAGTAAATTATTTCCAAATAAAAAAGTTAAAATAAGCAAATACTGACTCCAAAACAAAGGTTTAGGTCCACCTTTTCAGAAAGGCTTTACTGGAGATGACATTTCCTTTCATCTCTCAGCATGTGACCATAGGAAGCAAAAAAGTGTCAGGGCAGAGACTCCTTAGACCAGGGACAATGGCTGCAAAGCGCAGGCGGGATGTCTAGCCCTGCACAGAAAATGTCAGGCACGTGGCAGACTCAGAGCCCCGGCAGAGGCGCTGTCGGCCAGGCTCGTGATGCCCTGCCCTGCAGCATCTGGCTGTGTAAACCCTCAAACCCTGGTCCAGGTGGTTTCCTAAATGGCCCTCATGCCCCTGCCATCCTCCCCCAGGGAGATGCTGATGACACCCCCTATCTATCTGCACCAAGCTCACCACATACTCATCTGGGAACACGCATGGCTTACAGCGGTCTCCAGACCCGCAACCCCTCCCTGGGCCTTGCAGCTCCGATGACACCCCGTGGCTAACCCTGGGCCCCCTCTTCAGCACAGTCACCTGCTGAACAGCCAGGGTCCTTGGGTCCTGCCCCCCAGGAGGCGACCCTTAGACCTGGGGTGAACCCAGCTCCCAGAGGTCCTGTGCCATGGAGGGAGTGCCACATTTGCAGGGAGAGCTACCCTGAAGGCCAAAACAGGCGCCAACAAGAGCAGCTGGAATCCAATCGCACCCTTCCCGGGGAGCAGAAGGCAGTCCTGCCAGGTCCCCAAACTGTACAGGGGCCAGGGAGGTTCCCTCAGAAGCAGTTCTCGGCAGAAGGGAACCAGGCTTGGCAGGTGTAGAGAGCCAGGGCCAGGTGGAAAGCCAAGCCCCAGGGTGACAGCGCCGGGGATTAGTTCATTAATTCAGTTCGGGCATCTGGCCAGCCAGGCGGGAAGAGTCCCGCCTCCCTGCAGCAGGTGTGCTGACTCAGCACTGGGCCTCGGTGGCTGTGAAGTTACCTGAGAAGTTTGCAGAGGTGATCAGGGCCAGGCCCAGAGCGCTTAGCAAGAAAAAGGATGTGACTTGCAGGGATAGCCCTGGAGCCCCTTATCTCAAGGACTCCCACTTCCACAGCCCAAGAGGCTCCTGGGAGGACACGCCACTGTCCTAGAATGAACCTCCAACTCCTGACCCACCTCTGCAGCACCTCCCCGCAACGCCACTATTCTCAGGGGCCCTCCGACTGGAGACAAGCGGCGTCGGCTCTGCGTCTCAGGATGGGGGTGTCTTCGGAGGATGAATGAGGCCAGTATGTGAGGTGCAGGTGCAACGCCATTTACAACCTGGAGGGCATCGTCTCCTTCTCATGCCCTAGAGTTAGGAGCTCACGGAGCCCTCAGGAATCGGGCCTGTCTTCCCTGCCCACTCCACCCTCCAGCAGCCACTCCCGACCTCACCGGGCCTCTCACCCACTGCTCTCTTGGGTTTGTCTTGGCAGCAAGAGCCCATCCTCCTGGCTGCCCACACATCTGCTTGGCCTCCTGAGCTCCCAGCACTGAGTATGTTTGACACTCAGACCTTCTGGGTTTGTCCACTGTCACTTCTTTCTTTCTATTGCTGCACTGAGAGTACACCCAGCCACCCCCACCCATTCTGAA
Task1_train_28428
The following genetic variant occurs in CRYAA (crystallin alpha A) on Chromosome 21. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Cataract 9 multiple types
TTTCGGGGGAAGCACCCATCACTCTCCCAGCGTTTCCTATCTGCACCTTAATTTGGCACCCCAGGGAATCGCTCCTCTGGAATTGTAACCTTGCAGGGCAAAAGCTATCATTTCAAGATTTTTTGGGATCCTGTGTCCCCGGACAGTGCTGTAAATGTAGGAGGAAGGGTGCTGCTCATGGGTGCTGCTCATGATGGAGGTGCCCCGTGGAGCACGCCTCGGAGCCCCCCCTTTCATCCCTGATCCCATCTGGGATGTGTCAGGTCTGATCCGCATACACTGGGGCATCTGACATTTCATGGCCTTCTGAGCCCATGGGCTGGAGATGAATTTGCAAAGCCCGGGAGTGTCCTGGGTGTGTGTTCACTCCACACGCACGAATCTGTTAGAGGCTGAGTAGGAACTAGGAGGCCAAAGAGAACCAGGCAACTTCCCACAGCCTGGACCGTACACTAGAAAAGCTAGCCTGGGAGAGGGGGCATGGCCTCTTCCCAGGCTGGCAGGGGGGATGTGGGGGAGGACCATGCTCCCCAGGGCCAGTTTACCAAAATATCAAAATACCAAAATATCAAAAGACTTAAAACTAGGAGTGAGCCAGGTGCAGTGGCTCACGCCTGTAATCCTACACTTTGAGAGGCCAAGGCAGGTGGGTCACCTGAGGTCAAGAGTTTGAGACCAGCCTGGCCAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAATAATAATAATAATAATAATAATAATAATTAGCCAGGTGTGGTGGCAGGCACCTGCAGTCTCAGCTACTCAGGAGGCTGAGGTGGGAGAATTGTTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTATATGATCTGGGCGCCACTCTGGGTGACACAGCAAGACTCCATCTCAAAAACAAACAAACAAAACCGGGAGTGCCTGGACACTTAGTGAGAACTGGACAGGGGCCATGGGTCGAGGAGCAAAATAATCACCAGGACTTGTGGATAACAGGATCATGTGGGTGGTGGGTCCGCATGGGTGACAGGGACGTGGGGACATGTCGCCACCCTGACAGGAGCAGCCCAACTCAACAGCCACGGCAGGTCATGCCACGGAGGCTCGAGGCGTTACGTGGGGATGTTACATCAAGGCATTACATCATTACGAGATGTAACGCTCGAGGCGTTACATCGAGGGGACGATGGCCATGGGGCTGGGCGTCCAGGGTGGGCCGCAGAGGGAAGCTCACCACGTGGTGCTCTCATCTGCCCACAGCCCAGCCCGTCTTCCTGTTGGAGGCATGTGACCCCTGGAGGACAAGCATGAAACGCCATAGGGCTCCCCCAGGTGCTGGAATTATGGCACCTTGCAGCTTCTTCTCCACGAGTTTTAACAAGCATGCGTACTTTTGTAAGTGGTGAGTGTAACGGAGGTTCACAGATGCACTCCGCTTTGGAAACCAGTGCACTCTTGCCCAGGCCCGGTGAGACTCTGAGGACGATGTGTCTAACCTCTGTGTCTAACGGGGGTGTGTGCTCTCCCTCCTCTGGCGACCATGAGGACCACCCCGGCAGGACAAGGTGTGCAGAGAACTAGCATGGTCCCTGGCACGTAGCCCCTGCCCAGTGACTGGCAGATGAGAAGCTCCATTGTCGCCCCAGGCGAGTATGGGGCACAGGCGCCTCCTTGGGTTGTCTGCCCTCCCGGGAGCCCCAGGGTGCCCAGGCGGGCCTCAGCTGAGTCCAGGCCTCGGGGACAGTCCGTGCAGCCCCTCCTGGGGCTGGGGGCGGGCACTTGTCCCAGCCACGTTTCTGCTGACTGAGCAGCCTTCTTCATGAGCTCACGCCTTTCCAGAGAAATCCCTTAATGCCTCCATTCTGCTGGTGGCATATATAGGGAGGGCTCGGCCTTGGCTCCACACTGCGCTGCCCAGAGGCCCCGCTGACTCCTGCCAGCCTCCAGGTCCCCGTGGTACCAAAGCTGAACATGGACGTGACCATCCAGCACCCCTGGTTCAAGCGCACCCTGGGGCCCTTCTACCCCAGCCGGCTGTTCGACCAGTTTTTCGGCGAGGGCCTTTTTGAGTATGACCTGCTGCCCTTCCTGTCGTCCACCATCAGCCCCTACTACCGCCAGTCCCTCTTCCGCACCGTGCTGGACTCCGGCATCTCTGAGGTAAGACGTGGCCCGTGGTGCTGGCCTCTCCTCGCTGCTCAGAGGGTGGTGGCCTCGGTGGGTGGAGAGCGATGGACTCTGGTCTTGCTCCGTCAGGCAGGTGGCCTCGTCCCACTTCATCCCCTTGCAGAGGCTGGGCGAGAGCCTGTGTCCCCACTGCAGCCACGTGGCAGAGCTTCCCCTGGCACTGGGGAGAGGGTGGACAAGGGAGCAGCCTGAATCCACCTTTGCTTTCCTCCATCAGCTCATGACCCATGTGTGCTTTGTAAGGCACCAGCCACATACTGGAAACCCCAAGAGCAGCCCATCCAGGCATGCGTGGTGGCGAATGCCAGCTCCCGGGTTCCTCTGGTCTCCTGAGTCCCGGAGACCTGGGAGCAGGTGGGGGTCATAGTCCTGAAAGCCAGAGAGCAGGGCGTTCCTAGCACCTCCTCCAATGAGCTCGGCCTGCCCACGGCTAGCAAAGCTCTTGGCAAGTTTACTTAGGTGCCCTGCCAAGGCTAAAAGGACAGGCAATGGACGCCCCCCCCCCCACCCAACCACAGGCCTCCTCTCTGAGCCACGGGTGAGCGGTGCAGGTTCTGCTGTTCTGGAGGGCCTGAGTCCCACCCAGCACCTCATAAACAGGGTCCTCCCCAGGGCTGCTGCAGTAGGCATCAACGCCAGGGTGCAAAATGCCTCAGGGAGCCAAGGCTGAGCCAGGGGAGTGAGAAGGAGCATGTGGAAGTGCGTTTTGGAGAGGCAGCTGCGCAGGCTGTCAGCAGGCTCCGGCCGCTTCTATAGACAGCATGACACCAAGGGCAGTGACCTCATTCCACAGGCTGAGTCCAGCCAGCCAGCCAAGCATCACCAGCCAGACGATTGACCCTAACGGACCAACCAACCCGTAACGACCCCTCCTACCATAACCAGTAGCCAGCCAGCCCATAACCAGCCAACTTATCTATAACCAGCCACCTGACCATAGCCAAACAACCAGCCGGCCCACCAGTAGCATTCAGCCCCTCAGCTGGCCCTGAGGGTTTGGAGACAGGTCGAGGGTCATGCCTGTCTGTCCAGGAGACAGTCACAGGCCCCCGAAAGCTCTGCCCCACTTGGTGTGTGGGAGAAGAGGCCGGCAGGTGACCGAAGCATCTCTGTTCTGATAACCGGGACCCGCCCTGTCTCTGCCAACCCCAGCAGGGACGGCACCCTCTGGGCAGCTCCACATGGCACGTTTGGATTTCAGGTTCGATCCGACCGGGACAAGTTCGTCATCTTCCTCGATGTGAAGCACTTCTCCCCGGAGGACCTCACCGTGAAGGTGCAGGACGACTTTGTGGAGATCCACGGAAAGCACAACGAGCGCCAGGTGAGCCCAGGCACTGAGAGGTGGGAGAGGGGGGCGAGTTGGGCGCGAGGACAAGGGGGTCACGGCGGGCACGACCGGGCCTGCACACCTGCACCATGCCTTCAACCCTGGGAGAGGGACGCTCTCCAGGGGACCCCGAATCAGGCCTGGCTTTTCCCCAAGGGAGGGGCCGTGCCCACCTGAGCACAGCCAGCCCCTCCCGGTGACAGAGGTCACCATTCCCGAGCTAATGTGGCTCAGGGATCCAGGTTAGGGTCCCTTCCCGGGCTGCACCCAGCCGTCGCCAGCTCCATCCCTGTCACCTGGATGCCAGGGTGGTCTTAGAAAGAACCCCAGGAAGTGGGAGTGCCCCGGGTGGCCGCCTCCTAGCCAGTGTACATCTTCACATGAACCCTACCTGAGGAAGCCAGTCCCCGACGGCATAGCTGCATCCGCTTGGAATGCTTTACAGGCATTGACACCTTCGCCTCACAGCAGCACTTTGGAACCAGTGTCCTCATTATTCCAGGGCACGGCTGGGGAACAAGGGGGTCCTCAGCCTGCTGGGTCCCACAGCTAGTACCGGGCAG
TTTCGGGGGAAGCACCCATCACTCTCCCAGCGTTTCCTATCTGCACCTTAATTTGGCACCCCAGGGAATCGCTCCTCTGGAATTGTAACCTTGCAGGGCAAAAGCTATCATTTCAAGATTTTTTGGGATCCTGTGTCCCCGGACAGTGCTGTAAATGTAGGAGGAAGGGTGCTGCTCATGGGTGCTGCTCATGATGGAGGTGCCCCGTGGAGCACGCCTCGGAGCCCCCCCTTTCATCCCTGATCCCATCTGGGATGTGTCAGGTCTGATCCGCATACACTGGGGCATCTGACATTTCATGGCCTTCTGAGCCCATGGGCTGGAGATGAATTTGCAAAGCCCGGGAGTGTCCTGGGTGTGTGTTCACTCCACACGCACGAATCTGTTAGAGGCTGAGTAGGAACTAGGAGGCCAAAGAGAACCAGGCAACTTCCCACAGCCTGGACCGTACACTAGAAAAGCTAGCCTGGGAGAGGGGGCATGGCCTCTTCCCAGGCTGGCAGGGGGGATGTGGGGGAGGACCATGCTCCCCAGGGCCAGTTTACCAAAATATCAAAATACCAAAATATCAAAAGACTTAAAACTAGGAGTGAGCCAGGTGCAGTGGCTCACGCCTGTAATCCTACACTTTGAGAGGCCAAGGCAGGTGGGTCACCTGAGGTCAAGAGTTTGAGACCAGCCTGGCCAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAATAATAATAATAATAATAATAATAATAATTAGCCAGGTGTGGTGGCAGGCACCTGCAGTCTCAGCTACTCAGGAGGCTGAGGTGGGAGAATTGTTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTATATGATCTGGGCGCCACTCTGGGTGACACAGCAAGACTCCATCTCAAAAACAAACAAACAAAACCGGGAGTGCCTGGACACTTAGTGAGAACTGGACAGGGGCCATGGGTCGAGGAGCAAAATAATCACCAGGACTTGTGGATAACAGGATCATGTGGGTGGTGGGTCCGCATGGGTGACAGGGACGTGGGGACATGTCGCCACCCTGACAGGAGCAGCCCAACTCAACAGCCACGGCAGGTCATGCCACGGAGGCTCGAGGCGTTACGTGGGGATGTTACATCAAGGCATTACATCATTACGAGATGTAACGCTCGAGGCGTTACATCGAGGGGACGATGGCCATGGGGCTGGGCGTCCAGGGTGGGCCGCAGAGGGAAGCTCACCACGTGGTGCTCTCATCTGCCCACAGCCCAGCCCGTCTTCCTGTTGGAGGCATGTGACCCCTGGAGGACAAGCATGAAACGCCATAGGGCTCCCCCAGGTGCTGGAATTATGGCACCTTGCAGCTTCTTCTCCACGAGTTTTAACAAGCATGCGTACTTTTGTAAGTGGTGAGTGTAACGGAGGTTCACAGATGCACTCCGCTTTGGAAACCAGTGCACTCTTGCCCAGGCCCGGTGAGACTCTGAGGACGATGTGTCTAACCTCTGTGTCTAACGGGGGTGTGTGCTCTCCCTCCTCTGGCGACCATGAGGACCACCCCGGCAGGACAAGGTGTGCAGAGAACTAGCATGGTCCCTGGCACGTAGCCCCTGCCCAGTGACTGGCAGATGAGAAGCTCCATTGTCGCCCCAGGCGAGTATGGGGCACAGGCGCCTCCTTGGGTTGTCTGCCCTCCCGGGAGCCCCAGGGTGCCCAGGCGGGCCTCAGCTGAGTCCAGGCCTCGGGGACAGTCCGTGCAGCCCCTCCTGGGGCTGGGGGCGGGCACTTGTCCCAGCCACGTTTCTGCTGACTGAGCAGCCTTCTTCATGAGCTCACGCCTTTCCAGAGAAATCCCTTAATGCCTCCATTCTGCTGGTGGCATATATAGGGAGGGCTCGGCCTTGGCTCCACACTGCGCTGCCCAGAGGCCCCGCTGACTCCTGCCAGCCTCCAGGTCCCCGTGGTACCAAAGCTGAACATGGACGTGACCATCCAGCACCCCTGGTTCAAGCGCACCCTGGGGCCCTTCTACCCCAGCCAGCTGTTCGACCAGTTTTTCGGCGAGGGCCTTTTTGAGTATGACCTGCTGCCCTTCCTGTCGTCCACCATCAGCCCCTACTACCGCCAGTCCCTCTTCCGCACCGTGCTGGACTCCGGCATCTCTGAGGTAAGACGTGGCCCGTGGTGCTGGCCTCTCCTCGCTGCTCAGAGGGTGGTGGCCTCGGTGGGTGGAGAGCGATGGACTCTGGTCTTGCTCCGTCAGGCAGGTGGCCTCGTCCCACTTCATCCCCTTGCAGAGGCTGGGCGAGAGCCTGTGTCCCCACTGCAGCCACGTGGCAGAGCTTCCCCTGGCACTGGGGAGAGGGTGGACAAGGGAGCAGCCTGAATCCACCTTTGCTTTCCTCCATCAGCTCATGACCCATGTGTGCTTTGTAAGGCACCAGCCACATACTGGAAACCCCAAGAGCAGCCCATCCAGGCATGCGTGGTGGCGAATGCCAGCTCCCGGGTTCCTCTGGTCTCCTGAGTCCCGGAGACCTGGGAGCAGGTGGGGGTCATAGTCCTGAAAGCCAGAGAGCAGGGCGTTCCTAGCACCTCCTCCAATGAGCTCGGCCTGCCCACGGCTAGCAAAGCTCTTGGCAAGTTTACTTAGGTGCCCTGCCAAGGCTAAAAGGACAGGCAATGGACGCCCCCCCCCCCACCCAACCACAGGCCTCCTCTCTGAGCCACGGGTGAGCGGTGCAGGTTCTGCTGTTCTGGAGGGCCTGAGTCCCACCCAGCACCTCATAAACAGGGTCCTCCCCAGGGCTGCTGCAGTAGGCATCAACGCCAGGGTGCAAAATGCCTCAGGGAGCCAAGGCTGAGCCAGGGGAGTGAGAAGGAGCATGTGGAAGTGCGTTTTGGAGAGGCAGCTGCGCAGGCTGTCAGCAGGCTCCGGCCGCTTCTATAGACAGCATGACACCAAGGGCAGTGACCTCATTCCACAGGCTGAGTCCAGCCAGCCAGCCAAGCATCACCAGCCAGACGATTGACCCTAACGGACCAACCAACCCGTAACGACCCCTCCTACCATAACCAGTAGCCAGCCAGCCCATAACCAGCCAACTTATCTATAACCAGCCACCTGACCATAGCCAAACAACCAGCCGGCCCACCAGTAGCATTCAGCCCCTCAGCTGGCCCTGAGGGTTTGGAGACAGGTCGAGGGTCATGCCTGTCTGTCCAGGAGACAGTCACAGGCCCCCGAAAGCTCTGCCCCACTTGGTGTGTGGGAGAAGAGGCCGGCAGGTGACCGAAGCATCTCTGTTCTGATAACCGGGACCCGCCCTGTCTCTGCCAACCCCAGCAGGGACGGCACCCTCTGGGCAGCTCCACATGGCACGTTTGGATTTCAGGTTCGATCCGACCGGGACAAGTTCGTCATCTTCCTCGATGTGAAGCACTTCTCCCCGGAGGACCTCACCGTGAAGGTGCAGGACGACTTTGTGGAGATCCACGGAAAGCACAACGAGCGCCAGGTGAGCCCAGGCACTGAGAGGTGGGAGAGGGGGGCGAGTTGGGCGCGAGGACAAGGGGGTCACGGCGGGCACGACCGGGCCTGCACACCTGCACCATGCCTTCAACCCTGGGAGAGGGACGCTCTCCAGGGGACCCCGAATCAGGCCTGGCTTTTCCCCAAGGGAGGGGCCGTGCCCACCTGAGCACAGCCAGCCCCTCCCGGTGACAGAGGTCACCATTCCCGAGCTAATGTGGCTCAGGGATCCAGGTTAGGGTCCCTTCCCGGGCTGCACCCAGCCGTCGCCAGCTCCATCCCTGTCACCTGGATGCCAGGGTGGTCTTAGAAAGAACCCCAGGAAGTGGGAGTGCCCCGGGTGGCCGCCTCCTAGCCAGTGTACATCTTCACATGAACCCTACCTGAGGAAGCCAGTCCCCGACGGCATAGCTGCATCCGCTTGGAATGCTTTACAGGCATTGACACCTTCGCCTCACAGCAGCACTTTGGAACCAGTGTCCTCATTATTCCAGGGCACGGCTGGGGAACAAGGGGGTCCTCAGCCTGCTGGGTCCCACAGCTAGTACCGGGCAG
Task1_train_28429
Located on Chromosome 21, this mutation impacts CRYAA (crystallin alpha A). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Cataract 9 multiple types
TGTAACCTTGCAGGGCAAAAGCTATCATTTCAAGATTTTTTGGGATCCTGTGTCCCCGGACAGTGCTGTAAATGTAGGAGGAAGGGTGCTGCTCATGGGTGCTGCTCATGATGGAGGTGCCCCGTGGAGCACGCCTCGGAGCCCCCCCTTTCATCCCTGATCCCATCTGGGATGTGTCAGGTCTGATCCGCATACACTGGGGCATCTGACATTTCATGGCCTTCTGAGCCCATGGGCTGGAGATGAATTTGCAAAGCCCGGGAGTGTCCTGGGTGTGTGTTCACTCCACACGCACGAATCTGTTAGAGGCTGAGTAGGAACTAGGAGGCCAAAGAGAACCAGGCAACTTCCCACAGCCTGGACCGTACACTAGAAAAGCTAGCCTGGGAGAGGGGGCATGGCCTCTTCCCAGGCTGGCAGGGGGGATGTGGGGGAGGACCATGCTCCCCAGGGCCAGTTTACCAAAATATCAAAATACCAAAATATCAAAAGACTTAAAACTAGGAGTGAGCCAGGTGCAGTGGCTCACGCCTGTAATCCTACACTTTGAGAGGCCAAGGCAGGTGGGTCACCTGAGGTCAAGAGTTTGAGACCAGCCTGGCCAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAATAATAATAATAATAATAATAATAATAATTAGCCAGGTGTGGTGGCAGGCACCTGCAGTCTCAGCTACTCAGGAGGCTGAGGTGGGAGAATTGTTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTATATGATCTGGGCGCCACTCTGGGTGACACAGCAAGACTCCATCTCAAAAACAAACAAACAAAACCGGGAGTGCCTGGACACTTAGTGAGAACTGGACAGGGGCCATGGGTCGAGGAGCAAAATAATCACCAGGACTTGTGGATAACAGGATCATGTGGGTGGTGGGTCCGCATGGGTGACAGGGACGTGGGGACATGTCGCCACCCTGACAGGAGCAGCCCAACTCAACAGCCACGGCAGGTCATGCCACGGAGGCTCGAGGCGTTACGTGGGGATGTTACATCAAGGCATTACATCATTACGAGATGTAACGCTCGAGGCGTTACATCGAGGGGACGATGGCCATGGGGCTGGGCGTCCAGGGTGGGCCGCAGAGGGAAGCTCACCACGTGGTGCTCTCATCTGCCCACAGCCCAGCCCGTCTTCCTGTTGGAGGCATGTGACCCCTGGAGGACAAGCATGAAACGCCATAGGGCTCCCCCAGGTGCTGGAATTATGGCACCTTGCAGCTTCTTCTCCACGAGTTTTAACAAGCATGCGTACTTTTGTAAGTGGTGAGTGTAACGGAGGTTCACAGATGCACTCCGCTTTGGAAACCAGTGCACTCTTGCCCAGGCCCGGTGAGACTCTGAGGACGATGTGTCTAACCTCTGTGTCTAACGGGGGTGTGTGCTCTCCCTCCTCTGGCGACCATGAGGACCACCCCGGCAGGACAAGGTGTGCAGAGAACTAGCATGGTCCCTGGCACGTAGCCCCTGCCCAGTGACTGGCAGATGAGAAGCTCCATTGTCGCCCCAGGCGAGTATGGGGCACAGGCGCCTCCTTGGGTTGTCTGCCCTCCCGGGAGCCCCAGGGTGCCCAGGCGGGCCTCAGCTGAGTCCAGGCCTCGGGGACAGTCCGTGCAGCCCCTCCTGGGGCTGGGGGCGGGCACTTGTCCCAGCCACGTTTCTGCTGACTGAGCAGCCTTCTTCATGAGCTCACGCCTTTCCAGAGAAATCCCTTAATGCCTCCATTCTGCTGGTGGCATATATAGGGAGGGCTCGGCCTTGGCTCCACACTGCGCTGCCCAGAGGCCCCGCTGACTCCTGCCAGCCTCCAGGTCCCCGTGGTACCAAAGCTGAACATGGACGTGACCATCCAGCACCCCTGGTTCAAGCGCACCCTGGGGCCCTTCTACCCCAGCCGGCTGTTCGACCAGTTTTTCGGCGAGGGCCTTTTTGAGTATGACCTGCTGCCCTTCCTGTCGTCCACCATCAGCCCCTACTACCGCCAGTCCCTCTTCCGCACCGTGCTGGACTCCGGCATCTCTGAGGTAAGACGTGGCCCGTGGTGCTGGCCTCTCCTCGCTGCTCAGAGGGTGGTGGCCTCGGTGGGTGGAGAGCGATGGACTCTGGTCTTGCTCCGTCAGGCAGGTGGCCTCGTCCCACTTCATCCCCTTGCAGAGGCTGGGCGAGAGCCTGTGTCCCCACTGCAGCCACGTGGCAGAGCTTCCCCTGGCACTGGGGAGAGGGTGGACAAGGGAGCAGCCTGAATCCACCTTTGCTTTCCTCCATCAGCTCATGACCCATGTGTGCTTTGTAAGGCACCAGCCACATACTGGAAACCCCAAGAGCAGCCCATCCAGGCATGCGTGGTGGCGAATGCCAGCTCCCGGGTTCCTCTGGTCTCCTGAGTCCCGGAGACCTGGGAGCAGGTGGGGGTCATAGTCCTGAAAGCCAGAGAGCAGGGCGTTCCTAGCACCTCCTCCAATGAGCTCGGCCTGCCCACGGCTAGCAAAGCTCTTGGCAAGTTTACTTAGGTGCCCTGCCAAGGCTAAAAGGACAGGCAATGGACGCCCCCCCCCCCACCCAACCACAGGCCTCCTCTCTGAGCCACGGGTGAGCGGTGCAGGTTCTGCTGTTCTGGAGGGCCTGAGTCCCACCCAGCACCTCATAAACAGGGTCCTCCCCAGGGCTGCTGCAGTAGGCATCAACGCCAGGGTGCAAAATGCCTCAGGGAGCCAAGGCTGAGCCAGGGGAGTGAGAAGGAGCATGTGGAAGTGCGTTTTGGAGAGGCAGCTGCGCAGGCTGTCAGCAGGCTCCGGCCGCTTCTATAGACAGCATGACACCAAGGGCAGTGACCTCATTCCACAGGCTGAGTCCAGCCAGCCAGCCAAGCATCACCAGCCAGACGATTGACCCTAACGGACCAACCAACCCGTAACGACCCCTCCTACCATAACCAGTAGCCAGCCAGCCCATAACCAGCCAACTTATCTATAACCAGCCACCTGACCATAGCCAAACAACCAGCCGGCCCACCAGTAGCATTCAGCCCCTCAGCTGGCCCTGAGGGTTTGGAGACAGGTCGAGGGTCATGCCTGTCTGTCCAGGAGACAGTCACAGGCCCCCGAAAGCTCTGCCCCACTTGGTGTGTGGGAGAAGAGGCCGGCAGGTGACCGAAGCATCTCTGTTCTGATAACCGGGACCCGCCCTGTCTCTGCCAACCCCAGCAGGGACGGCACCCTCTGGGCAGCTCCACATGGCACGTTTGGATTTCAGGTTCGATCCGACCGGGACAAGTTCGTCATCTTCCTCGATGTGAAGCACTTCTCCCCGGAGGACCTCACCGTGAAGGTGCAGGACGACTTTGTGGAGATCCACGGAAAGCACAACGAGCGCCAGGTGAGCCCAGGCACTGAGAGGTGGGAGAGGGGGGCGAGTTGGGCGCGAGGACAAGGGGGTCACGGCGGGCACGACCGGGCCTGCACACCTGCACCATGCCTTCAACCCTGGGAGAGGGACGCTCTCCAGGGGACCCCGAATCAGGCCTGGCTTTTCCCCAAGGGAGGGGCCGTGCCCACCTGAGCACAGCCAGCCCCTCCCGGTGACAGAGGTCACCATTCCCGAGCTAATGTGGCTCAGGGATCCAGGTTAGGGTCCCTTCCCGGGCTGCACCCAGCCGTCGCCAGCTCCATCCCTGTCACCTGGATGCCAGGGTGGTCTTAGAAAGAACCCCAGGAAGTGGGAGTGCCCCGGGTGGCCGCCTCCTAGCCAGTGTACATCTTCACATGAACCCTACCTGAGGAAGCCAGTCCCCGACGGCATAGCTGCATCCGCTTGGAATGCTTTACAGGCATTGACACCTTCGCCTCACAGCAGCACTTTGGAACCAGTGTCCTCATTATTCCAGGGCACGGCTGGGGAACAAGGGGGTCCTCAGCCTGCTGGGTCCCACAGCTAGTACCGGGCAGGTGGACGGGAGCTTCTCCCCACAGTCACCCTGATGCCCCGCTCTTGCTCGGCTGGAGGCCTCGGATCTCCGTGGTGTTGAGGG
TGTAACCTTGCAGGGCAAAAGCTATCATTTCAAGATTTTTTGGGATCCTGTGTCCCCGGACAGTGCTGTAAATGTAGGAGGAAGGGTGCTGCTCATGGGTGCTGCTCATGATGGAGGTGCCCCGTGGAGCACGCCTCGGAGCCCCCCCTTTCATCCCTGATCCCATCTGGGATGTGTCAGGTCTGATCCGCATACACTGGGGCATCTGACATTTCATGGCCTTCTGAGCCCATGGGCTGGAGATGAATTTGCAAAGCCCGGGAGTGTCCTGGGTGTGTGTTCACTCCACACGCACGAATCTGTTAGAGGCTGAGTAGGAACTAGGAGGCCAAAGAGAACCAGGCAACTTCCCACAGCCTGGACCGTACACTAGAAAAGCTAGCCTGGGAGAGGGGGCATGGCCTCTTCCCAGGCTGGCAGGGGGGATGTGGGGGAGGACCATGCTCCCCAGGGCCAGTTTACCAAAATATCAAAATACCAAAATATCAAAAGACTTAAAACTAGGAGTGAGCCAGGTGCAGTGGCTCACGCCTGTAATCCTACACTTTGAGAGGCCAAGGCAGGTGGGTCACCTGAGGTCAAGAGTTTGAGACCAGCCTGGCCAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAATAATAATAATAATAATAATAATAATAATTAGCCAGGTGTGGTGGCAGGCACCTGCAGTCTCAGCTACTCAGGAGGCTGAGGTGGGAGAATTGTTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTATATGATCTGGGCGCCACTCTGGGTGACACAGCAAGACTCCATCTCAAAAACAAACAAACAAAACCGGGAGTGCCTGGACACTTAGTGAGAACTGGACAGGGGCCATGGGTCGAGGAGCAAAATAATCACCAGGACTTGTGGATAACAGGATCATGTGGGTGGTGGGTCCGCATGGGTGACAGGGACGTGGGGACATGTCGCCACCCTGACAGGAGCAGCCCAACTCAACAGCCACGGCAGGTCATGCCACGGAGGCTCGAGGCGTTACGTGGGGATGTTACATCAAGGCATTACATCATTACGAGATGTAACGCTCGAGGCGTTACATCGAGGGGACGATGGCCATGGGGCTGGGCGTCCAGGGTGGGCCGCAGAGGGAAGCTCACCACGTGGTGCTCTCATCTGCCCACAGCCCAGCCCGTCTTCCTGTTGGAGGCATGTGACCCCTGGAGGACAAGCATGAAACGCCATAGGGCTCCCCCAGGTGCTGGAATTATGGCACCTTGCAGCTTCTTCTCCACGAGTTTTAACAAGCATGCGTACTTTTGTAAGTGGTGAGTGTAACGGAGGTTCACAGATGCACTCCGCTTTGGAAACCAGTGCACTCTTGCCCAGGCCCGGTGAGACTCTGAGGACGATGTGTCTAACCTCTGTGTCTAACGGGGGTGTGTGCTCTCCCTCCTCTGGCGACCATGAGGACCACCCCGGCAGGACAAGGTGTGCAGAGAACTAGCATGGTCCCTGGCACGTAGCCCCTGCCCAGTGACTGGCAGATGAGAAGCTCCATTGTCGCCCCAGGCGAGTATGGGGCACAGGCGCCTCCTTGGGTTGTCTGCCCTCCCGGGAGCCCCAGGGTGCCCAGGCGGGCCTCAGCTGAGTCCAGGCCTCGGGGACAGTCCGTGCAGCCCCTCCTGGGGCTGGGGGCGGGCACTTGTCCCAGCCACGTTTCTGCTGACTGAGCAGCCTTCTTCATGAGCTCACGCCTTTCCAGAGAAATCCCTTAATGCCTCCATTCTGCTGGTGGCATATATAGGGAGGGCTCGGCCTTGGCTCCACACTGCGCTGCCCAGAGGCCCCGCTGACTCCTGCCAGCCTCCAGGTCCCCGTGGTACCAAAGCTGAACATGGACGTGACCATCCAGCACCCCTGGTTCAAGCGCACCCTGGGGCCCTTCTACCCCAGCCGGCTGTTCGACCAGTTTTTCGGCGAGGGCCTTTTTGAGTATGACCTGCTGCCCTTCCTGTCGTCCACCATCAGCCCCTACTACTGCCAGTCCCTCTTCCGCACCGTGCTGGACTCCGGCATCTCTGAGGTAAGACGTGGCCCGTGGTGCTGGCCTCTCCTCGCTGCTCAGAGGGTGGTGGCCTCGGTGGGTGGAGAGCGATGGACTCTGGTCTTGCTCCGTCAGGCAGGTGGCCTCGTCCCACTTCATCCCCTTGCAGAGGCTGGGCGAGAGCCTGTGTCCCCACTGCAGCCACGTGGCAGAGCTTCCCCTGGCACTGGGGAGAGGGTGGACAAGGGAGCAGCCTGAATCCACCTTTGCTTTCCTCCATCAGCTCATGACCCATGTGTGCTTTGTAAGGCACCAGCCACATACTGGAAACCCCAAGAGCAGCCCATCCAGGCATGCGTGGTGGCGAATGCCAGCTCCCGGGTTCCTCTGGTCTCCTGAGTCCCGGAGACCTGGGAGCAGGTGGGGGTCATAGTCCTGAAAGCCAGAGAGCAGGGCGTTCCTAGCACCTCCTCCAATGAGCTCGGCCTGCCCACGGCTAGCAAAGCTCTTGGCAAGTTTACTTAGGTGCCCTGCCAAGGCTAAAAGGACAGGCAATGGACGCCCCCCCCCCCACCCAACCACAGGCCTCCTCTCTGAGCCACGGGTGAGCGGTGCAGGTTCTGCTGTTCTGGAGGGCCTGAGTCCCACCCAGCACCTCATAAACAGGGTCCTCCCCAGGGCTGCTGCAGTAGGCATCAACGCCAGGGTGCAAAATGCCTCAGGGAGCCAAGGCTGAGCCAGGGGAGTGAGAAGGAGCATGTGGAAGTGCGTTTTGGAGAGGCAGCTGCGCAGGCTGTCAGCAGGCTCCGGCCGCTTCTATAGACAGCATGACACCAAGGGCAGTGACCTCATTCCACAGGCTGAGTCCAGCCAGCCAGCCAAGCATCACCAGCCAGACGATTGACCCTAACGGACCAACCAACCCGTAACGACCCCTCCTACCATAACCAGTAGCCAGCCAGCCCATAACCAGCCAACTTATCTATAACCAGCCACCTGACCATAGCCAAACAACCAGCCGGCCCACCAGTAGCATTCAGCCCCTCAGCTGGCCCTGAGGGTTTGGAGACAGGTCGAGGGTCATGCCTGTCTGTCCAGGAGACAGTCACAGGCCCCCGAAAGCTCTGCCCCACTTGGTGTGTGGGAGAAGAGGCCGGCAGGTGACCGAAGCATCTCTGTTCTGATAACCGGGACCCGCCCTGTCTCTGCCAACCCCAGCAGGGACGGCACCCTCTGGGCAGCTCCACATGGCACGTTTGGATTTCAGGTTCGATCCGACCGGGACAAGTTCGTCATCTTCCTCGATGTGAAGCACTTCTCCCCGGAGGACCTCACCGTGAAGGTGCAGGACGACTTTGTGGAGATCCACGGAAAGCACAACGAGCGCCAGGTGAGCCCAGGCACTGAGAGGTGGGAGAGGGGGGCGAGTTGGGCGCGAGGACAAGGGGGTCACGGCGGGCACGACCGGGCCTGCACACCTGCACCATGCCTTCAACCCTGGGAGAGGGACGCTCTCCAGGGGACCCCGAATCAGGCCTGGCTTTTCCCCAAGGGAGGGGCCGTGCCCACCTGAGCACAGCCAGCCCCTCCCGGTGACAGAGGTCACCATTCCCGAGCTAATGTGGCTCAGGGATCCAGGTTAGGGTCCCTTCCCGGGCTGCACCCAGCCGTCGCCAGCTCCATCCCTGTCACCTGGATGCCAGGGTGGTCTTAGAAAGAACCCCAGGAAGTGGGAGTGCCCCGGGTGGCCGCCTCCTAGCCAGTGTACATCTTCACATGAACCCTACCTGAGGAAGCCAGTCCCCGACGGCATAGCTGCATCCGCTTGGAATGCTTTACAGGCATTGACACCTTCGCCTCACAGCAGCACTTTGGAACCAGTGTCCTCATTATTCCAGGGCACGGCTGGGGAACAAGGGGGTCCTCAGCCTGCTGGGTCCCACAGCTAGTACCGGGCAGGTGGACGGGAGCTTCTCCCCACAGTCACCCTGATGCCCCGCTCTTGCTCGGCTGGAGGCCTCGGATCTCCGTGGTGTTGAGGG
Task1_train_28430
The following genetic variant occurs in CRYAA (crystallin alpha A) on Chromosome 21. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Cataract 9 multiple types
CAAAAGCTATCATTTCAAGATTTTTTGGGATCCTGTGTCCCCGGACAGTGCTGTAAATGTAGGAGGAAGGGTGCTGCTCATGGGTGCTGCTCATGATGGAGGTGCCCCGTGGAGCACGCCTCGGAGCCCCCCCTTTCATCCCTGATCCCATCTGGGATGTGTCAGGTCTGATCCGCATACACTGGGGCATCTGACATTTCATGGCCTTCTGAGCCCATGGGCTGGAGATGAATTTGCAAAGCCCGGGAGTGTCCTGGGTGTGTGTTCACTCCACACGCACGAATCTGTTAGAGGCTGAGTAGGAACTAGGAGGCCAAAGAGAACCAGGCAACTTCCCACAGCCTGGACCGTACACTAGAAAAGCTAGCCTGGGAGAGGGGGCATGGCCTCTTCCCAGGCTGGCAGGGGGGATGTGGGGGAGGACCATGCTCCCCAGGGCCAGTTTACCAAAATATCAAAATACCAAAATATCAAAAGACTTAAAACTAGGAGTGAGCCAGGTGCAGTGGCTCACGCCTGTAATCCTACACTTTGAGAGGCCAAGGCAGGTGGGTCACCTGAGGTCAAGAGTTTGAGACCAGCCTGGCCAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAATAATAATAATAATAATAATAATAATAATTAGCCAGGTGTGGTGGCAGGCACCTGCAGTCTCAGCTACTCAGGAGGCTGAGGTGGGAGAATTGTTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTATATGATCTGGGCGCCACTCTGGGTGACACAGCAAGACTCCATCTCAAAAACAAACAAACAAAACCGGGAGTGCCTGGACACTTAGTGAGAACTGGACAGGGGCCATGGGTCGAGGAGCAAAATAATCACCAGGACTTGTGGATAACAGGATCATGTGGGTGGTGGGTCCGCATGGGTGACAGGGACGTGGGGACATGTCGCCACCCTGACAGGAGCAGCCCAACTCAACAGCCACGGCAGGTCATGCCACGGAGGCTCGAGGCGTTACGTGGGGATGTTACATCAAGGCATTACATCATTACGAGATGTAACGCTCGAGGCGTTACATCGAGGGGACGATGGCCATGGGGCTGGGCGTCCAGGGTGGGCCGCAGAGGGAAGCTCACCACGTGGTGCTCTCATCTGCCCACAGCCCAGCCCGTCTTCCTGTTGGAGGCATGTGACCCCTGGAGGACAAGCATGAAACGCCATAGGGCTCCCCCAGGTGCTGGAATTATGGCACCTTGCAGCTTCTTCTCCACGAGTTTTAACAAGCATGCGTACTTTTGTAAGTGGTGAGTGTAACGGAGGTTCACAGATGCACTCCGCTTTGGAAACCAGTGCACTCTTGCCCAGGCCCGGTGAGACTCTGAGGACGATGTGTCTAACCTCTGTGTCTAACGGGGGTGTGTGCTCTCCCTCCTCTGGCGACCATGAGGACCACCCCGGCAGGACAAGGTGTGCAGAGAACTAGCATGGTCCCTGGCACGTAGCCCCTGCCCAGTGACTGGCAGATGAGAAGCTCCATTGTCGCCCCAGGCGAGTATGGGGCACAGGCGCCTCCTTGGGTTGTCTGCCCTCCCGGGAGCCCCAGGGTGCCCAGGCGGGCCTCAGCTGAGTCCAGGCCTCGGGGACAGTCCGTGCAGCCCCTCCTGGGGCTGGGGGCGGGCACTTGTCCCAGCCACGTTTCTGCTGACTGAGCAGCCTTCTTCATGAGCTCACGCCTTTCCAGAGAAATCCCTTAATGCCTCCATTCTGCTGGTGGCATATATAGGGAGGGCTCGGCCTTGGCTCCACACTGCGCTGCCCAGAGGCCCCGCTGACTCCTGCCAGCCTCCAGGTCCCCGTGGTACCAAAGCTGAACATGGACGTGACCATCCAGCACCCCTGGTTCAAGCGCACCCTGGGGCCCTTCTACCCCAGCCGGCTGTTCGACCAGTTTTTCGGCGAGGGCCTTTTTGAGTATGACCTGCTGCCCTTCCTGTCGTCCACCATCAGCCCCTACTACCGCCAGTCCCTCTTCCGCACCGTGCTGGACTCCGGCATCTCTGAGGTAAGACGTGGCCCGTGGTGCTGGCCTCTCCTCGCTGCTCAGAGGGTGGTGGCCTCGGTGGGTGGAGAGCGATGGACTCTGGTCTTGCTCCGTCAGGCAGGTGGCCTCGTCCCACTTCATCCCCTTGCAGAGGCTGGGCGAGAGCCTGTGTCCCCACTGCAGCCACGTGGCAGAGCTTCCCCTGGCACTGGGGAGAGGGTGGACAAGGGAGCAGCCTGAATCCACCTTTGCTTTCCTCCATCAGCTCATGACCCATGTGTGCTTTGTAAGGCACCAGCCACATACTGGAAACCCCAAGAGCAGCCCATCCAGGCATGCGTGGTGGCGAATGCCAGCTCCCGGGTTCCTCTGGTCTCCTGAGTCCCGGAGACCTGGGAGCAGGTGGGGGTCATAGTCCTGAAAGCCAGAGAGCAGGGCGTTCCTAGCACCTCCTCCAATGAGCTCGGCCTGCCCACGGCTAGCAAAGCTCTTGGCAAGTTTACTTAGGTGCCCTGCCAAGGCTAAAAGGACAGGCAATGGACGCCCCCCCCCCCACCCAACCACAGGCCTCCTCTCTGAGCCACGGGTGAGCGGTGCAGGTTCTGCTGTTCTGGAGGGCCTGAGTCCCACCCAGCACCTCATAAACAGGGTCCTCCCCAGGGCTGCTGCAGTAGGCATCAACGCCAGGGTGCAAAATGCCTCAGGGAGCCAAGGCTGAGCCAGGGGAGTGAGAAGGAGCATGTGGAAGTGCGTTTTGGAGAGGCAGCTGCGCAGGCTGTCAGCAGGCTCCGGCCGCTTCTATAGACAGCATGACACCAAGGGCAGTGACCTCATTCCACAGGCTGAGTCCAGCCAGCCAGCCAAGCATCACCAGCCAGACGATTGACCCTAACGGACCAACCAACCCGTAACGACCCCTCCTACCATAACCAGTAGCCAGCCAGCCCATAACCAGCCAACTTATCTATAACCAGCCACCTGACCATAGCCAAACAACCAGCCGGCCCACCAGTAGCATTCAGCCCCTCAGCTGGCCCTGAGGGTTTGGAGACAGGTCGAGGGTCATGCCTGTCTGTCCAGGAGACAGTCACAGGCCCCCGAAAGCTCTGCCCCACTTGGTGTGTGGGAGAAGAGGCCGGCAGGTGACCGAAGCATCTCTGTTCTGATAACCGGGACCCGCCCTGTCTCTGCCAACCCCAGCAGGGACGGCACCCTCTGGGCAGCTCCACATGGCACGTTTGGATTTCAGGTTCGATCCGACCGGGACAAGTTCGTCATCTTCCTCGATGTGAAGCACTTCTCCCCGGAGGACCTCACCGTGAAGGTGCAGGACGACTTTGTGGAGATCCACGGAAAGCACAACGAGCGCCAGGTGAGCCCAGGCACTGAGAGGTGGGAGAGGGGGGCGAGTTGGGCGCGAGGACAAGGGGGTCACGGCGGGCACGACCGGGCCTGCACACCTGCACCATGCCTTCAACCCTGGGAGAGGGACGCTCTCCAGGGGACCCCGAATCAGGCCTGGCTTTTCCCCAAGGGAGGGGCCGTGCCCACCTGAGCACAGCCAGCCCCTCCCGGTGACAGAGGTCACCATTCCCGAGCTAATGTGGCTCAGGGATCCAGGTTAGGGTCCCTTCCCGGGCTGCACCCAGCCGTCGCCAGCTCCATCCCTGTCACCTGGATGCCAGGGTGGTCTTAGAAAGAACCCCAGGAAGTGGGAGTGCCCCGGGTGGCCGCCTCCTAGCCAGTGTACATCTTCACATGAACCCTACCTGAGGAAGCCAGTCCCCGACGGCATAGCTGCATCCGCTTGGAATGCTTTACAGGCATTGACACCTTCGCCTCACAGCAGCACTTTGGAACCAGTGTCCTCATTATTCCAGGGCACGGCTGGGGAACAAGGGGGTCCTCAGCCTGCTGGGTCCCACAGCTAGTACCGGGCAGGTGGACGGGAGCTTCTCCCCACAGTCACCCTGATGCCCCGCTCTTGCTCGGCTGGAGGCCTCGGATCTCCGTGGTGTTGAGGGAGCCGGGGCACTGGA
CAAAAGCTATCATTTCAAGATTTTTTGGGATCCTGTGTCCCCGGACAGTGCTGTAAATGTAGGAGGAAGGGTGCTGCTCATGGGTGCTGCTCATGATGGAGGTGCCCCGTGGAGCACGCCTCGGAGCCCCCCCTTTCATCCCTGATCCCATCTGGGATGTGTCAGGTCTGATCCGCATACACTGGGGCATCTGACATTTCATGGCCTTCTGAGCCCATGGGCTGGAGATGAATTTGCAAAGCCCGGGAGTGTCCTGGGTGTGTGTTCACTCCACACGCACGAATCTGTTAGAGGCTGAGTAGGAACTAGGAGGCCAAAGAGAACCAGGCAACTTCCCACAGCCTGGACCGTACACTAGAAAAGCTAGCCTGGGAGAGGGGGCATGGCCTCTTCCCAGGCTGGCAGGGGGGATGTGGGGGAGGACCATGCTCCCCAGGGCCAGTTTACCAAAATATCAAAATACCAAAATATCAAAAGACTTAAAACTAGGAGTGAGCCAGGTGCAGTGGCTCACGCCTGTAATCCTACACTTTGAGAGGCCAAGGCAGGTGGGTCACCTGAGGTCAAGAGTTTGAGACCAGCCTGGCCAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAATAATAATAATAATAATAATAATAATAATTAGCCAGGTGTGGTGGCAGGCACCTGCAGTCTCAGCTACTCAGGAGGCTGAGGTGGGAGAATTGTTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTATATGATCTGGGCGCCACTCTGGGTGACACAGCAAGACTCCATCTCAAAAACAAACAAACAAAACCGGGAGTGCCTGGACACTTAGTGAGAACTGGACAGGGGCCATGGGTCGAGGAGCAAAATAATCACCAGGACTTGTGGATAACAGGATCATGTGGGTGGTGGGTCCGCATGGGTGACAGGGACGTGGGGACATGTCGCCACCCTGACAGGAGCAGCCCAACTCAACAGCCACGGCAGGTCATGCCACGGAGGCTCGAGGCGTTACGTGGGGATGTTACATCAAGGCATTACATCATTACGAGATGTAACGCTCGAGGCGTTACATCGAGGGGACGATGGCCATGGGGCTGGGCGTCCAGGGTGGGCCGCAGAGGGAAGCTCACCACGTGGTGCTCTCATCTGCCCACAGCCCAGCCCGTCTTCCTGTTGGAGGCATGTGACCCCTGGAGGACAAGCATGAAACGCCATAGGGCTCCCCCAGGTGCTGGAATTATGGCACCTTGCAGCTTCTTCTCCACGAGTTTTAACAAGCATGCGTACTTTTGTAAGTGGTGAGTGTAACGGAGGTTCACAGATGCACTCCGCTTTGGAAACCAGTGCACTCTTGCCCAGGCCCGGTGAGACTCTGAGGACGATGTGTCTAACCTCTGTGTCTAACGGGGGTGTGTGCTCTCCCTCCTCTGGCGACCATGAGGACCACCCCGGCAGGACAAGGTGTGCAGAGAACTAGCATGGTCCCTGGCACGTAGCCCCTGCCCAGTGACTGGCAGATGAGAAGCTCCATTGTCGCCCCAGGCGAGTATGGGGCACAGGCGCCTCCTTGGGTTGTCTGCCCTCCCGGGAGCCCCAGGGTGCCCAGGCGGGCCTCAGCTGAGTCCAGGCCTCGGGGACAGTCCGTGCAGCCCCTCCTGGGGCTGGGGGCGGGCACTTGTCCCAGCCACGTTTCTGCTGACTGAGCAGCCTTCTTCATGAGCTCACGCCTTTCCAGAGAAATCCCTTAATGCCTCCATTCTGCTGGTGGCATATATAGGGAGGGCTCGGCCTTGGCTCCACACTGCGCTGCCCAGAGGCCCCGCTGACTCCTGCCAGCCTCCAGGTCCCCGTGGTACCAAAGCTGAACATGGACGTGACCATCCAGCACCCCTGGTTCAAGCGCACCCTGGGGCCCTTCTACCCCAGCCGGCTGTTCGACCAGTTTTTCGGCGAGGGCCTTTTTGAGTATGACCTGCTGCCCTTCCTGTCGTCCACCATCAGCCCCTACTACCGCCAGTCCCTCTTCTGCACCGTGCTGGACTCCGGCATCTCTGAGGTAAGACGTGGCCCGTGGTGCTGGCCTCTCCTCGCTGCTCAGAGGGTGGTGGCCTCGGTGGGTGGAGAGCGATGGACTCTGGTCTTGCTCCGTCAGGCAGGTGGCCTCGTCCCACTTCATCCCCTTGCAGAGGCTGGGCGAGAGCCTGTGTCCCCACTGCAGCCACGTGGCAGAGCTTCCCCTGGCACTGGGGAGAGGGTGGACAAGGGAGCAGCCTGAATCCACCTTTGCTTTCCTCCATCAGCTCATGACCCATGTGTGCTTTGTAAGGCACCAGCCACATACTGGAAACCCCAAGAGCAGCCCATCCAGGCATGCGTGGTGGCGAATGCCAGCTCCCGGGTTCCTCTGGTCTCCTGAGTCCCGGAGACCTGGGAGCAGGTGGGGGTCATAGTCCTGAAAGCCAGAGAGCAGGGCGTTCCTAGCACCTCCTCCAATGAGCTCGGCCTGCCCACGGCTAGCAAAGCTCTTGGCAAGTTTACTTAGGTGCCCTGCCAAGGCTAAAAGGACAGGCAATGGACGCCCCCCCCCCCACCCAACCACAGGCCTCCTCTCTGAGCCACGGGTGAGCGGTGCAGGTTCTGCTGTTCTGGAGGGCCTGAGTCCCACCCAGCACCTCATAAACAGGGTCCTCCCCAGGGCTGCTGCAGTAGGCATCAACGCCAGGGTGCAAAATGCCTCAGGGAGCCAAGGCTGAGCCAGGGGAGTGAGAAGGAGCATGTGGAAGTGCGTTTTGGAGAGGCAGCTGCGCAGGCTGTCAGCAGGCTCCGGCCGCTTCTATAGACAGCATGACACCAAGGGCAGTGACCTCATTCCACAGGCTGAGTCCAGCCAGCCAGCCAAGCATCACCAGCCAGACGATTGACCCTAACGGACCAACCAACCCGTAACGACCCCTCCTACCATAACCAGTAGCCAGCCAGCCCATAACCAGCCAACTTATCTATAACCAGCCACCTGACCATAGCCAAACAACCAGCCGGCCCACCAGTAGCATTCAGCCCCTCAGCTGGCCCTGAGGGTTTGGAGACAGGTCGAGGGTCATGCCTGTCTGTCCAGGAGACAGTCACAGGCCCCCGAAAGCTCTGCCCCACTTGGTGTGTGGGAGAAGAGGCCGGCAGGTGACCGAAGCATCTCTGTTCTGATAACCGGGACCCGCCCTGTCTCTGCCAACCCCAGCAGGGACGGCACCCTCTGGGCAGCTCCACATGGCACGTTTGGATTTCAGGTTCGATCCGACCGGGACAAGTTCGTCATCTTCCTCGATGTGAAGCACTTCTCCCCGGAGGACCTCACCGTGAAGGTGCAGGACGACTTTGTGGAGATCCACGGAAAGCACAACGAGCGCCAGGTGAGCCCAGGCACTGAGAGGTGGGAGAGGGGGGCGAGTTGGGCGCGAGGACAAGGGGGTCACGGCGGGCACGACCGGGCCTGCACACCTGCACCATGCCTTCAACCCTGGGAGAGGGACGCTCTCCAGGGGACCCCGAATCAGGCCTGGCTTTTCCCCAAGGGAGGGGCCGTGCCCACCTGAGCACAGCCAGCCCCTCCCGGTGACAGAGGTCACCATTCCCGAGCTAATGTGGCTCAGGGATCCAGGTTAGGGTCCCTTCCCGGGCTGCACCCAGCCGTCGCCAGCTCCATCCCTGTCACCTGGATGCCAGGGTGGTCTTAGAAAGAACCCCAGGAAGTGGGAGTGCCCCGGGTGGCCGCCTCCTAGCCAGTGTACATCTTCACATGAACCCTACCTGAGGAAGCCAGTCCCCGACGGCATAGCTGCATCCGCTTGGAATGCTTTACAGGCATTGACACCTTCGCCTCACAGCAGCACTTTGGAACCAGTGTCCTCATTATTCCAGGGCACGGCTGGGGAACAAGGGGGTCCTCAGCCTGCTGGGTCCCACAGCTAGTACCGGGCAGGTGGACGGGAGCTTCTCCCCACAGTCACCCTGATGCCCCGCTCTTGCTCGGCTGGAGGCCTCGGATCTCCGTGGTGTTGAGGGAGCCGGGGCACTGGA
Task1_train_28431
Assess the clinical impact of this variant on gene CRYAA (crystallin alpha A), found on Chromosome 21. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Cataract 9 multiple types
AACCAGTGCACTCTTGCCCAGGCCCGGTGAGACTCTGAGGACGATGTGTCTAACCTCTGTGTCTAACGGGGGTGTGTGCTCTCCCTCCTCTGGCGACCATGAGGACCACCCCGGCAGGACAAGGTGTGCAGAGAACTAGCATGGTCCCTGGCACGTAGCCCCTGCCCAGTGACTGGCAGATGAGAAGCTCCATTGTCGCCCCAGGCGAGTATGGGGCACAGGCGCCTCCTTGGGTTGTCTGCCCTCCCGGGAGCCCCAGGGTGCCCAGGCGGGCCTCAGCTGAGTCCAGGCCTCGGGGACAGTCCGTGCAGCCCCTCCTGGGGCTGGGGGCGGGCACTTGTCCCAGCCACGTTTCTGCTGACTGAGCAGCCTTCTTCATGAGCTCACGCCTTTCCAGAGAAATCCCTTAATGCCTCCATTCTGCTGGTGGCATATATAGGGAGGGCTCGGCCTTGGCTCCACACTGCGCTGCCCAGAGGCCCCGCTGACTCCTGCCAGCCTCCAGGTCCCCGTGGTACCAAAGCTGAACATGGACGTGACCATCCAGCACCCCTGGTTCAAGCGCACCCTGGGGCCCTTCTACCCCAGCCGGCTGTTCGACCAGTTTTTCGGCGAGGGCCTTTTTGAGTATGACCTGCTGCCCTTCCTGTCGTCCACCATCAGCCCCTACTACCGCCAGTCCCTCTTCCGCACCGTGCTGGACTCCGGCATCTCTGAGGTAAGACGTGGCCCGTGGTGCTGGCCTCTCCTCGCTGCTCAGAGGGTGGTGGCCTCGGTGGGTGGAGAGCGATGGACTCTGGTCTTGCTCCGTCAGGCAGGTGGCCTCGTCCCACTTCATCCCCTTGCAGAGGCTGGGCGAGAGCCTGTGTCCCCACTGCAGCCACGTGGCAGAGCTTCCCCTGGCACTGGGGAGAGGGTGGACAAGGGAGCAGCCTGAATCCACCTTTGCTTTCCTCCATCAGCTCATGACCCATGTGTGCTTTGTAAGGCACCAGCCACATACTGGAAACCCCAAGAGCAGCCCATCCAGGCATGCGTGGTGGCGAATGCCAGCTCCCGGGTTCCTCTGGTCTCCTGAGTCCCGGAGACCTGGGAGCAGGTGGGGGTCATAGTCCTGAAAGCCAGAGAGCAGGGCGTTCCTAGCACCTCCTCCAATGAGCTCGGCCTGCCCACGGCTAGCAAAGCTCTTGGCAAGTTTACTTAGGTGCCCTGCCAAGGCTAAAAGGACAGGCAATGGACGCCCCCCCCCCCACCCAACCACAGGCCTCCTCTCTGAGCCACGGGTGAGCGGTGCAGGTTCTGCTGTTCTGGAGGGCCTGAGTCCCACCCAGCACCTCATAAACAGGGTCCTCCCCAGGGCTGCTGCAGTAGGCATCAACGCCAGGGTGCAAAATGCCTCAGGGAGCCAAGGCTGAGCCAGGGGAGTGAGAAGGAGCATGTGGAAGTGCGTTTTGGAGAGGCAGCTGCGCAGGCTGTCAGCAGGCTCCGGCCGCTTCTATAGACAGCATGACACCAAGGGCAGTGACCTCATTCCACAGGCTGAGTCCAGCCAGCCAGCCAAGCATCACCAGCCAGACGATTGACCCTAACGGACCAACCAACCCGTAACGACCCCTCCTACCATAACCAGTAGCCAGCCAGCCCATAACCAGCCAACTTATCTATAACCAGCCACCTGACCATAGCCAAACAACCAGCCGGCCCACCAGTAGCATTCAGCCCCTCAGCTGGCCCTGAGGGTTTGGAGACAGGTCGAGGGTCATGCCTGTCTGTCCAGGAGACAGTCACAGGCCCCCGAAAGCTCTGCCCCACTTGGTGTGTGGGAGAAGAGGCCGGCAGGTGACCGAAGCATCTCTGTTCTGATAACCGGGACCCGCCCTGTCTCTGCCAACCCCAGCAGGGACGGCACCCTCTGGGCAGCTCCACATGGCACGTTTGGATTTCAGGTTCGATCCGACCGGGACAAGTTCGTCATCTTCCTCGATGTGAAGCACTTCTCCCCGGAGGACCTCACCGTGAAGGTGCAGGACGACTTTGTGGAGATCCACGGAAAGCACAACGAGCGCCAGGTGAGCCCAGGCACTGAGAGGTGGGAGAGGGGGGCGAGTTGGGCGCGAGGACAAGGGGGTCACGGCGGGCACGACCGGGCCTGCACACCTGCACCATGCCTTCAACCCTGGGAGAGGGACGCTCTCCAGGGGACCCCGAATCAGGCCTGGCTTTTCCCCAAGGGAGGGGCCGTGCCCACCTGAGCACAGCCAGCCCCTCCCGGTGACAGAGGTCACCATTCCCGAGCTAATGTGGCTCAGGGATCCAGGTTAGGGTCCCTTCCCGGGCTGCACCCAGCCGTCGCCAGCTCCATCCCTGTCACCTGGATGCCAGGGTGGTCTTAGAAAGAACCCCAGGAAGTGGGAGTGCCCCGGGTGGCCGCCTCCTAGCCAGTGTACATCTTCACATGAACCCTACCTGAGGAAGCCAGTCCCCGACGGCATAGCTGCATCCGCTTGGAATGCTTTACAGGCATTGACACCTTCGCCTCACAGCAGCACTTTGGAACCAGTGTCCTCATTATTCCAGGGCACGGCTGGGGAACAAGGGGGTCCTCAGCCTGCTGGGTCCCACAGCTAGTACCGGGCAGGTGGACGGGAGCTTCTCCCCACAGTCACCCTGATGCCCCGCTCTTGCTCGGCTGGAGGCCTCGGATCTCCGTGGTGTTGAGGGAGCCGGGGCACTGGAGCCCTGGTGACCTGCATCTCCTGGCGGAGCCGGGAAGAGCTCATGGACTGTCACAGATGGACAGTGCCCCGCGGGGGCTGGAGAGCAGAGTGGGGCTGGAAGGTGGAACTCTTAGCCAAAGTCTTGGTTTCTTTTGGCCAGGGTCCTCTTTCAATGGCTGGAGAAGGTGGTGCTGGGGGGTGAACGCTGACCTCCTCATGTGCTGCCCCTCCCTCGCCTGGGCCCGGTAAAGCCCCCACGTAGCCCCAGCCAGCCTGGAACATGCTTCCTGAGCTCCCAGCTCTTGGTCTTTGCACCCAGTGGAGGAGGAGGTCAGCCCAGGGAGCTGAGTCTGCGGTTTAGGGCGTCCAGGGGACGTGGAAGCATGTGGGTCGTCTGGCCACATTAGGTAGGGCTGCAGAGACCTGGGCTAGAGCAGTCCTGCGGGGTCTGGAAGGGGAAGACTGGCTGAGGTGCGGGGCCTGGTCTGGAATGATCCTGCGATTTTGGAGTGAAGCCATGGAGCGGGAAGAGACAACCCCCCGCGGGGAATAGCCCGGCAAGTGGCCACGAGGCCAGGCTGAGGTCCAGAGAAGCAGGGGCATGAATCCATAAATCCCAGGGGGCCTGGCCATGGGATGTGCTGGCTGCACCCGGCCCCTGTGAGAGCCCCCGCAGGCTGGCCCCCTTCTGCAGTCAGTGGGGCTGGGGCAGCTTCTCTGGCATGGGGCGAGGCAGCCGCCTGCACAGTGGCCCCCCTGACTGTGCGCCCCCACCCTCTCCAGGACGACCACGGCTACATTTCCCGTGAGTTCCACCGCCGCTACCGCCTGCCGTCCAACGTGGACCAGTCGGCCCTCTCTTGCTCCCTGTCTGCCGATGGCATGCTGACCTTCTGTGGCCCCAAGATCCAGACTGGCCTGGATGCCACCCACGCCGAGCGAGCCATCCCCGTGTCGCGGGAGGAGAAGCCCACCTCGGCTCCCTCGTCCTAAGCAGGCATTGCCTCGGCTGGCTCCCCTGCAGCCCTGGCCCATCATGGGGGGAGCACCCTGAGGGCGGGGTGTCTGTCTTCCTTTGCTTCCCTTTTTTCCTTTCCACCTTCTCACATGGAATGAGGGTTTGAGAGAGCAGCCAGGAGAGCTTAGGGTCTCAGGGTGTCCCAGACCCCGACACCGGCCAGTGGCGGAAGTGACCGCACCTCACACTCCTTTAGATAGCAGCCTGGCTCCCCTGGGGTGCAGGCGCCTCAACTCTGCTGAGGGTCCAGAAGGAGGGGGTGACCTCCGGCCAGGTGCCTCCTGACACACCTGCAGCCTCCCTCCGCGGCGGGCCCTGCCCACACCTCCTGGGGCGCGTGAGGCCCGTGGGGCCGGGGCTT
AACCAGTGCACTCTTGCCCAGGCCCGGTGAGACTCTGAGGACGATGTGTCTAACCTCTGTGTCTAACGGGGGTGTGTGCTCTCCCTCCTCTGGCGACCATGAGGACCACCCCGGCAGGACAAGGTGTGCAGAGAACTAGCATGGTCCCTGGCACGTAGCCCCTGCCCAGTGACTGGCAGATGAGAAGCTCCATTGTCGCCCCAGGCGAGTATGGGGCACAGGCGCCTCCTTGGGTTGTCTGCCCTCCCGGGAGCCCCAGGGTGCCCAGGCGGGCCTCAGCTGAGTCCAGGCCTCGGGGACAGTCCGTGCAGCCCCTCCTGGGGCTGGGGGCGGGCACTTGTCCCAGCCACGTTTCTGCTGACTGAGCAGCCTTCTTCATGAGCTCACGCCTTTCCAGAGAAATCCCTTAATGCCTCCATTCTGCTGGTGGCATATATAGGGAGGGCTCGGCCTTGGCTCCACACTGCGCTGCCCAGAGGCCCCGCTGACTCCTGCCAGCCTCCAGGTCCCCGTGGTACCAAAGCTGAACATGGACGTGACCATCCAGCACCCCTGGTTCAAGCGCACCCTGGGGCCCTTCTACCCCAGCCGGCTGTTCGACCAGTTTTTCGGCGAGGGCCTTTTTGAGTATGACCTGCTGCCCTTCCTGTCGTCCACCATCAGCCCCTACTACCGCCAGTCCCTCTTCCGCACCGTGCTGGACTCCGGCATCTCTGAGGTAAGACGTGGCCCGTGGTGCTGGCCTCTCCTCGCTGCTCAGAGGGTGGTGGCCTCGGTGGGTGGAGAGCGATGGACTCTGGTCTTGCTCCGTCAGGCAGGTGGCCTCGTCCCACTTCATCCCCTTGCAGAGGCTGGGCGAGAGCCTGTGTCCCCACTGCAGCCACGTGGCAGAGCTTCCCCTGGCACTGGGGAGAGGGTGGACAAGGGAGCAGCCTGAATCCACCTTTGCTTTCCTCCATCAGCTCATGACCCATGTGTGCTTTGTAAGGCACCAGCCACATACTGGAAACCCCAAGAGCAGCCCATCCAGGCATGCGTGGTGGCGAATGCCAGCTCCCGGGTTCCTCTGGTCTCCTGAGTCCCGGAGACCTGGGAGCAGGTGGGGGTCATAGTCCTGAAAGCCAGAGAGCAGGGCGTTCCTAGCACCTCCTCCAATGAGCTCGGCCTGCCCACGGCTAGCAAAGCTCTTGGCAAGTTTACTTAGGTGCCCTGCCAAGGCTAAAAGGACAGGCAATGGACGCCCCCCCCCCCACCCAACCACAGGCCTCCTCTCTGAGCCACGGGTGAGCGGTGCAGGTTCTGCTGTTCTGGAGGGCCTGAGTCCCACCCAGCACCTCATAAACAGGGTCCTCCCCAGGGCTGCTGCAGTAGGCATCAACGCCAGGGTGCAAAATGCCTCAGGGAGCCAAGGCTGAGCCAGGGGAGTGAGAAGGAGCATGTGGAAGTGCGTTTTGGAGAGGCAGCTGCGCAGGCTGTCAGCAGGCTCCGGCCGCTTCTATAGACAGCATGACACCAAGGGCAGTGACCTCATTCCACAGGCTGAGTCCAGCCAGCCAGCCAAGCATCACCAGCCAGACGATTGACCCTAACGGACCAACCAACCCGTAACGACCCCTCCTACCATAACCAGTAGCCAGCCAGCCCATAACCAGCCAACTTATCTATAACCAGCCACCTGACCATAGCCAAACAACCAGCCGGCCCACCAGTAGCATTCAGCCCCTCAGCTGGCCCTGAGGGTTTGGAGACAGGTCGAGGGTCATGCCTGTCTGTCCAGGAGACAGTCACAGGCCCCCGAAAGCTCTGCCCCACTTGGTGTGTGGGAGAAGAGGCCGGCAGGTGACCGAAGCATCTCTGTTCTGATAACCGGGACCCGCCCTGTCTCTGCCAACCCCAGCAGGGACGGCACCCTCTGGGCAGCTCCACATGGCACGTTTGGATTTCAGGTTCGATCCGACCGGGACAAGTTCGTCATCTTCCTCGATGTGAAGCACTTCTCCCCGGAGGACCTCACCGTGAAGGTGCAGGACGACTTTGTGGAGATCCACAGAAAGCACAACGAGCGCCAGGTGAGCCCAGGCACTGAGAGGTGGGAGAGGGGGGCGAGTTGGGCGCGAGGACAAGGGGGTCACGGCGGGCACGACCGGGCCTGCACACCTGCACCATGCCTTCAACCCTGGGAGAGGGACGCTCTCCAGGGGACCCCGAATCAGGCCTGGCTTTTCCCCAAGGGAGGGGCCGTGCCCACCTGAGCACAGCCAGCCCCTCCCGGTGACAGAGGTCACCATTCCCGAGCTAATGTGGCTCAGGGATCCAGGTTAGGGTCCCTTCCCGGGCTGCACCCAGCCGTCGCCAGCTCCATCCCTGTCACCTGGATGCCAGGGTGGTCTTAGAAAGAACCCCAGGAAGTGGGAGTGCCCCGGGTGGCCGCCTCCTAGCCAGTGTACATCTTCACATGAACCCTACCTGAGGAAGCCAGTCCCCGACGGCATAGCTGCATCCGCTTGGAATGCTTTACAGGCATTGACACCTTCGCCTCACAGCAGCACTTTGGAACCAGTGTCCTCATTATTCCAGGGCACGGCTGGGGAACAAGGGGGTCCTCAGCCTGCTGGGTCCCACAGCTAGTACCGGGCAGGTGGACGGGAGCTTCTCCCCACAGTCACCCTGATGCCCCGCTCTTGCTCGGCTGGAGGCCTCGGATCTCCGTGGTGTTGAGGGAGCCGGGGCACTGGAGCCCTGGTGACCTGCATCTCCTGGCGGAGCCGGGAAGAGCTCATGGACTGTCACAGATGGACAGTGCCCCGCGGGGGCTGGAGAGCAGAGTGGGGCTGGAAGGTGGAACTCTTAGCCAAAGTCTTGGTTTCTTTTGGCCAGGGTCCTCTTTCAATGGCTGGAGAAGGTGGTGCTGGGGGGTGAACGCTGACCTCCTCATGTGCTGCCCCTCCCTCGCCTGGGCCCGGTAAAGCCCCCACGTAGCCCCAGCCAGCCTGGAACATGCTTCCTGAGCTCCCAGCTCTTGGTCTTTGCACCCAGTGGAGGAGGAGGTCAGCCCAGGGAGCTGAGTCTGCGGTTTAGGGCGTCCAGGGGACGTGGAAGCATGTGGGTCGTCTGGCCACATTAGGTAGGGCTGCAGAGACCTGGGCTAGAGCAGTCCTGCGGGGTCTGGAAGGGGAAGACTGGCTGAGGTGCGGGGCCTGGTCTGGAATGATCCTGCGATTTTGGAGTGAAGCCATGGAGCGGGAAGAGACAACCCCCCGCGGGGAATAGCCCGGCAAGTGGCCACGAGGCCAGGCTGAGGTCCAGAGAAGCAGGGGCATGAATCCATAAATCCCAGGGGGCCTGGCCATGGGATGTGCTGGCTGCACCCGGCCCCTGTGAGAGCCCCCGCAGGCTGGCCCCCTTCTGCAGTCAGTGGGGCTGGGGCAGCTTCTCTGGCATGGGGCGAGGCAGCCGCCTGCACAGTGGCCCCCCTGACTGTGCGCCCCCACCCTCTCCAGGACGACCACGGCTACATTTCCCGTGAGTTCCACCGCCGCTACCGCCTGCCGTCCAACGTGGACCAGTCGGCCCTCTCTTGCTCCCTGTCTGCCGATGGCATGCTGACCTTCTGTGGCCCCAAGATCCAGACTGGCCTGGATGCCACCCACGCCGAGCGAGCCATCCCCGTGTCGCGGGAGGAGAAGCCCACCTCGGCTCCCTCGTCCTAAGCAGGCATTGCCTCGGCTGGCTCCCCTGCAGCCCTGGCCCATCATGGGGGGAGCACCCTGAGGGCGGGGTGTCTGTCTTCCTTTGCTTCCCTTTTTTCCTTTCCACCTTCTCACATGGAATGAGGGTTTGAGAGAGCAGCCAGGAGAGCTTAGGGTCTCAGGGTGTCCCAGACCCCGACACCGGCCAGTGGCGGAAGTGACCGCACCTCACACTCCTTTAGATAGCAGCCTGGCTCCCCTGGGGTGCAGGCGCCTCAACTCTGCTGAGGGTCCAGAAGGAGGGGGTGACCTCCGGCCAGGTGCCTCCTGACACACCTGCAGCCTCCCTCCGCGGCGGGCCCTGCCCACACCTCCTGGGGCGCGTGAGGCCCGTGGGGCCGGGGCTT
Task1_train_28432
The gene CRYAA (crystallin alpha A) on Chromosome 21 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Inborn genetic diseases
CCGGCCGCTTCTATAGACAGCATGACACCAAGGGCAGTGACCTCATTCCACAGGCTGAGTCCAGCCAGCCAGCCAAGCATCACCAGCCAGACGATTGACCCTAACGGACCAACCAACCCGTAACGACCCCTCCTACCATAACCAGTAGCCAGCCAGCCCATAACCAGCCAACTTATCTATAACCAGCCACCTGACCATAGCCAAACAACCAGCCGGCCCACCAGTAGCATTCAGCCCCTCAGCTGGCCCTGAGGGTTTGGAGACAGGTCGAGGGTCATGCCTGTCTGTCCAGGAGACAGTCACAGGCCCCCGAAAGCTCTGCCCCACTTGGTGTGTGGGAGAAGAGGCCGGCAGGTGACCGAAGCATCTCTGTTCTGATAACCGGGACCCGCCCTGTCTCTGCCAACCCCAGCAGGGACGGCACCCTCTGGGCAGCTCCACATGGCACGTTTGGATTTCAGGTTCGATCCGACCGGGACAAGTTCGTCATCTTCCTCGATGTGAAGCACTTCTCCCCGGAGGACCTCACCGTGAAGGTGCAGGACGACTTTGTGGAGATCCACGGAAAGCACAACGAGCGCCAGGTGAGCCCAGGCACTGAGAGGTGGGAGAGGGGGGCGAGTTGGGCGCGAGGACAAGGGGGTCACGGCGGGCACGACCGGGCCTGCACACCTGCACCATGCCTTCAACCCTGGGAGAGGGACGCTCTCCAGGGGACCCCGAATCAGGCCTGGCTTTTCCCCAAGGGAGGGGCCGTGCCCACCTGAGCACAGCCAGCCCCTCCCGGTGACAGAGGTCACCATTCCCGAGCTAATGTGGCTCAGGGATCCAGGTTAGGGTCCCTTCCCGGGCTGCACCCAGCCGTCGCCAGCTCCATCCCTGTCACCTGGATGCCAGGGTGGTCTTAGAAAGAACCCCAGGAAGTGGGAGTGCCCCGGGTGGCCGCCTCCTAGCCAGTGTACATCTTCACATGAACCCTACCTGAGGAAGCCAGTCCCCGACGGCATAGCTGCATCCGCTTGGAATGCTTTACAGGCATTGACACCTTCGCCTCACAGCAGCACTTTGGAACCAGTGTCCTCATTATTCCAGGGCACGGCTGGGGAACAAGGGGGTCCTCAGCCTGCTGGGTCCCACAGCTAGTACCGGGCAGGTGGACGGGAGCTTCTCCCCACAGTCACCCTGATGCCCCGCTCTTGCTCGGCTGGAGGCCTCGGATCTCCGTGGTGTTGAGGGAGCCGGGGCACTGGAGCCCTGGTGACCTGCATCTCCTGGCGGAGCCGGGAAGAGCTCATGGACTGTCACAGATGGACAGTGCCCCGCGGGGGCTGGAGAGCAGAGTGGGGCTGGAAGGTGGAACTCTTAGCCAAAGTCTTGGTTTCTTTTGGCCAGGGTCCTCTTTCAATGGCTGGAGAAGGTGGTGCTGGGGGGTGAACGCTGACCTCCTCATGTGCTGCCCCTCCCTCGCCTGGGCCCGGTAAAGCCCCCACGTAGCCCCAGCCAGCCTGGAACATGCTTCCTGAGCTCCCAGCTCTTGGTCTTTGCACCCAGTGGAGGAGGAGGTCAGCCCAGGGAGCTGAGTCTGCGGTTTAGGGCGTCCAGGGGACGTGGAAGCATGTGGGTCGTCTGGCCACATTAGGTAGGGCTGCAGAGACCTGGGCTAGAGCAGTCCTGCGGGGTCTGGAAGGGGAAGACTGGCTGAGGTGCGGGGCCTGGTCTGGAATGATCCTGCGATTTTGGAGTGAAGCCATGGAGCGGGAAGAGACAACCCCCCGCGGGGAATAGCCCGGCAAGTGGCCACGAGGCCAGGCTGAGGTCCAGAGAAGCAGGGGCATGAATCCATAAATCCCAGGGGGCCTGGCCATGGGATGTGCTGGCTGCACCCGGCCCCTGTGAGAGCCCCCGCAGGCTGGCCCCCTTCTGCAGTCAGTGGGGCTGGGGCAGCTTCTCTGGCATGGGGCGAGGCAGCCGCCTGCACAGTGGCCCCCCTGACTGTGCGCCCCCACCCTCTCCAGGACGACCACGGCTACATTTCCCGTGAGTTCCACCGCCGCTACCGCCTGCCGTCCAACGTGGACCAGTCGGCCCTCTCTTGCTCCCTGTCTGCCGATGGCATGCTGACCTTCTGTGGCCCCAAGATCCAGACTGGCCTGGATGCCACCCACGCCGAGCGAGCCATCCCCGTGTCGCGGGAGGAGAAGCCCACCTCGGCTCCCTCGTCCTAAGCAGGCATTGCCTCGGCTGGCTCCCCTGCAGCCCTGGCCCATCATGGGGGGAGCACCCTGAGGGCGGGGTGTCTGTCTTCCTTTGCTTCCCTTTTTTCCTTTCCACCTTCTCACATGGAATGAGGGTTTGAGAGAGCAGCCAGGAGAGCTTAGGGTCTCAGGGTGTCCCAGACCCCGACACCGGCCAGTGGCGGAAGTGACCGCACCTCACACTCCTTTAGATAGCAGCCTGGCTCCCCTGGGGTGCAGGCGCCTCAACTCTGCTGAGGGTCCAGAAGGAGGGGGTGACCTCCGGCCAGGTGCCTCCTGACACACCTGCAGCCTCCCTCCGCGGCGGGCCCTGCCCACACCTCCTGGGGCGCGTGAGGCCCGTGGGGCCGGGGCTTCTGTGCACCTGGGCTCTCGCGGCCTCTTCTCTCAGACCGTCTTCCTCCAACCCCTCTATGTAGTGCCGCTCTTGGGGACATGGGTCGCCCATGAGAGCGCAGCCCGCGGCAATCAATAAACAGCAGGTGATACAAGCAACCCGCCGTCTGCTGGTGCTGTCTCCATCAGGGGCGCGAGGGGCAGGAGGGCGGCGCCGGGAGGGAGGACAGCGGGGTCTCCTGCTCGCGTTGGACCCGGTGGCCTCGGAACGATGGGGTCGCCTGCGTCCCTTCCTTCTCCTGAGCTCAAGCGCCTCCCTCCACACTGGGCTGGAAGGAGAGGTTTTGGGGGCAGAGCCTCTGATGGGAAAGGGACTGGGGAGCACTTCCGAGAGCTGGGGGCGGGGAGGGACCTGGAAGGGGCTGCAGGGAATGGAGGGAGGCCGGGCTCCTTTCTCTGTCCGCGCCGGCACCGGGGCGGGACGCCAGCCCTGGCCTCCTTCTGCGGGGCCGTCCGGTTCTCTCGGGGTCTGCTGGGTCGTCCTGTTCTCTCGGGGGTCCTGCTGCCTTCGGGGCTGGGCTTTAAGGGCACTCGTGCTTTTGAGGAGGTGGAACTCGGCAGCTTCCCCTGGGCAACCCATCATGGCCCCGAGCTGGAGGCGGAAGCTCGCTCTGTCCCCTCCCGGGACCAGACACTGGGCGGCCATGCCAGACCCCGCCACGGGGAGGGAGACTCGGCCTGGGGGGCCCTGGCTGCCTGCTGCGCTCACCGAGGGGCATCCGGGGGGCCAGAGGGCACCCAAGGGGAAGCAGACGCCACGGCGGGTGGGCCCTGCCAGCGCCCTCAGCCAAGTAAAGCGCCCTCGACCCCGGAGGCCGAAGGCACCGGGACCCTGAGGCACTGGGACCCCCATGGCACCAGCAGGACGACCACAGGGGCGCAGCCTCCACCCGGGAGAACACAGACACTGACACCAACGGGTTTTCAAAAAGTCAGCAACAGGCATTAGCGTGGGCGGCCATAGTGACGCCCAGTGACATCACGTGCCACGGACACTGAACAGCACACACACCACACACTCCACACACACACACCACACACTCCACACACAACACACTCCACACACACCACAGACACACACACACCCCTCAACACACCATGCCCTTTGTCTCTCTTTGTATTCCTCTGGCCAGGCCGTGGTGTGACGGGTTCTGAGTCCTGGGAGTGGCTCCCCTAGACTCCCCCCCTCCTCCTCCCTCCAGCAGGACCTGCCCGGCTGTTGTGCCATCGAGTCCCCATTTGTACAGAAGGGGGTGCCCTGTGGTTGGCAACAACATGACCCACTGTGCTTTGGGGCTGCGGCTGGATGTTTTTGAAAATCGGGGTGTCTGGGGCTCCCTGCTCCTCCTGGGTCTGTCCCGGACCAGCTGAGCGGACACCTTTGCTCTGCACAGCCTGGCAGCCATTGCAGGGAGGCGGGCCCACCCCAACATCTGGTAGCTCCG
CCGGCCGCTTCTATAGACAGCATGACACCAAGGGCAGTGACCTCATTCCACAGGCTGAGTCCAGCCAGCCAGCCAAGCATCACCAGCCAGACGATTGACCCTAACGGACCAACCAACCCGTAACGACCCCTCCTACCATAACCAGTAGCCAGCCAGCCCATAACCAGCCAACTTATCTATAACCAGCCACCTGACCATAGCCAAACAACCAGCCGGCCCACCAGTAGCATTCAGCCCCTCAGCTGGCCCTGAGGGTTTGGAGACAGGTCGAGGGTCATGCCTGTCTGTCCAGGAGACAGTCACAGGCCCCCGAAAGCTCTGCCCCACTTGGTGTGTGGGAGAAGAGGCCGGCAGGTGACCGAAGCATCTCTGTTCTGATAACCGGGACCCGCCCTGTCTCTGCCAACCCCAGCAGGGACGGCACCCTCTGGGCAGCTCCACATGGCACGTTTGGATTTCAGGTTCGATCCGACCGGGACAAGTTCGTCATCTTCCTCGATGTGAAGCACTTCTCCCCGGAGGACCTCACCGTGAAGGTGCAGGACGACTTTGTGGAGATCCACGGAAAGCACAACGAGCGCCAGGTGAGCCCAGGCACTGAGAGGTGGGAGAGGGGGGCGAGTTGGGCGCGAGGACAAGGGGGTCACGGCGGGCACGACCGGGCCTGCACACCTGCACCATGCCTTCAACCCTGGGAGAGGGACGCTCTCCAGGGGACCCCGAATCAGGCCTGGCTTTTCCCCAAGGGAGGGGCCGTGCCCACCTGAGCACAGCCAGCCCCTCCCGGTGACAGAGGTCACCATTCCCGAGCTAATGTGGCTCAGGGATCCAGGTTAGGGTCCCTTCCCGGGCTGCACCCAGCCGTCGCCAGCTCCATCCCTGTCACCTGGATGCCAGGGTGGTCTTAGAAAGAACCCCAGGAAGTGGGAGTGCCCCGGGTGGCCGCCTCCTAGCCAGTGTACATCTTCACATGAACCCTACCTGAGGAAGCCAGTCCCCGACGGCATAGCTGCATCCGCTTGGAATGCTTTACAGGCATTGACACCTTCGCCTCACAGCAGCACTTTGGAACCAGTGTCCTCATTATTCCAGGGCACGGCTGGGGAACAAGGGGGTCCTCAGCCTGCTGGGTCCCACAGCTAGTACCGGGCAGGTGGACGGGAGCTTCTCCCCACAGTCACCCTGATGCCCCGCTCTTGCTCGGCTGGAGGCCTCGGATCTCCGTGGTGTTGAGGGAGCCGGGGCACTGGAGCCCTGGTGACCTGCATCTCCTGGCGGAGCCGGGAAGAGCTCATGGACTGTCACAGATGGACAGTGCCCCGCGGGGGCTGGAGAGCAGAGTGGGGCTGGAAGGTGGAACTCTTAGCCAAAGTCTTGGTTTCTTTTGGCCAGGGTCCTCTTTCAATGGCTGGAGAAGGTGGTGCTGGGGGGTGAACGCTGACCTCCTCATGTGCTGCCCCTCCCTCGCCTGGGCCCGGTAAAGCCCCCACGTAGCCCCAGCCAGCCTGGAACATGCTTCCTGAGCTCCCAGCTCTTGGTCTTTGCACCCAGTGGAGGAGGAGGTCAGCCCAGGGAGCTGAGTCTGCGGTTTAGGGCGTCCAGGGGACGTGGAAGCATGTGGGTCGTCTGGCCACATTAGGTAGGGCTGCAGAGACCTGGGCTAGAGCAGTCCTGCGGGGTCTGGAAGGGGAAGACTGGCTGAGGTGCGGGGCCTGGTCTGGAATGATCCTGCGATTTTGGAGTGAAGCCATGGAGCGGGAAGAGACAACCCCCCGCGGGGAATAGCCCGGCAAGTGGCCACGAGGCCAGGCTGAGGTCCAGAGAAGCAGGGGCATGAATCCATAAATCCCAGGGGGCCTGGCCATGGGATGTGCTGGCTGCACCCGGCCCCTGTGAGAGCCCCCGCAGGCTGGCCCCCTTCTGCAGTCAGTGGGGCTGGGGCAGCTTCTCTGGCATGGGGCGAGGCAGCCGCCTGCACAGTGGCCCCCCTGACTGTGCGCCCCCACCCTCTCCAGGACGACCACGGCTACATTTCCCGTGAGTTCCACAGCCGCTACCGCCTGCCGTCCAACGTGGACCAGTCGGCCCTCTCTTGCTCCCTGTCTGCCGATGGCATGCTGACCTTCTGTGGCCCCAAGATCCAGACTGGCCTGGATGCCACCCACGCCGAGCGAGCCATCCCCGTGTCGCGGGAGGAGAAGCCCACCTCGGCTCCCTCGTCCTAAGCAGGCATTGCCTCGGCTGGCTCCCCTGCAGCCCTGGCCCATCATGGGGGGAGCACCCTGAGGGCGGGGTGTCTGTCTTCCTTTGCTTCCCTTTTTTCCTTTCCACCTTCTCACATGGAATGAGGGTTTGAGAGAGCAGCCAGGAGAGCTTAGGGTCTCAGGGTGTCCCAGACCCCGACACCGGCCAGTGGCGGAAGTGACCGCACCTCACACTCCTTTAGATAGCAGCCTGGCTCCCCTGGGGTGCAGGCGCCTCAACTCTGCTGAGGGTCCAGAAGGAGGGGGTGACCTCCGGCCAGGTGCCTCCTGACACACCTGCAGCCTCCCTCCGCGGCGGGCCCTGCCCACACCTCCTGGGGCGCGTGAGGCCCGTGGGGCCGGGGCTTCTGTGCACCTGGGCTCTCGCGGCCTCTTCTCTCAGACCGTCTTCCTCCAACCCCTCTATGTAGTGCCGCTCTTGGGGACATGGGTCGCCCATGAGAGCGCAGCCCGCGGCAATCAATAAACAGCAGGTGATACAAGCAACCCGCCGTCTGCTGGTGCTGTCTCCATCAGGGGCGCGAGGGGCAGGAGGGCGGCGCCGGGAGGGAGGACAGCGGGGTCTCCTGCTCGCGTTGGACCCGGTGGCCTCGGAACGATGGGGTCGCCTGCGTCCCTTCCTTCTCCTGAGCTCAAGCGCCTCCCTCCACACTGGGCTGGAAGGAGAGGTTTTGGGGGCAGAGCCTCTGATGGGAAAGGGACTGGGGAGCACTTCCGAGAGCTGGGGGCGGGGAGGGACCTGGAAGGGGCTGCAGGGAATGGAGGGAGGCCGGGCTCCTTTCTCTGTCCGCGCCGGCACCGGGGCGGGACGCCAGCCCTGGCCTCCTTCTGCGGGGCCGTCCGGTTCTCTCGGGGTCTGCTGGGTCGTCCTGTTCTCTCGGGGGTCCTGCTGCCTTCGGGGCTGGGCTTTAAGGGCACTCGTGCTTTTGAGGAGGTGGAACTCGGCAGCTTCCCCTGGGCAACCCATCATGGCCCCGAGCTGGAGGCGGAAGCTCGCTCTGTCCCCTCCCGGGACCAGACACTGGGCGGCCATGCCAGACCCCGCCACGGGGAGGGAGACTCGGCCTGGGGGGCCCTGGCTGCCTGCTGCGCTCACCGAGGGGCATCCGGGGGGCCAGAGGGCACCCAAGGGGAAGCAGACGCCACGGCGGGTGGGCCCTGCCAGCGCCCTCAGCCAAGTAAAGCGCCCTCGACCCCGGAGGCCGAAGGCACCGGGACCCTGAGGCACTGGGACCCCCATGGCACCAGCAGGACGACCACAGGGGCGCAGCCTCCACCCGGGAGAACACAGACACTGACACCAACGGGTTTTCAAAAAGTCAGCAACAGGCATTAGCGTGGGCGGCCATAGTGACGCCCAGTGACATCACGTGCCACGGACACTGAACAGCACACACACCACACACTCCACACACACACACCACACACTCCACACACAACACACTCCACACACACCACAGACACACACACACCCCTCAACACACCATGCCCTTTGTCTCTCTTTGTATTCCTCTGGCCAGGCCGTGGTGTGACGGGTTCTGAGTCCTGGGAGTGGCTCCCCTAGACTCCCCCCCTCCTCCTCCCTCCAGCAGGACCTGCCCGGCTGTTGTGCCATCGAGTCCCCATTTGTACAGAAGGGGGTGCCCTGTGGTTGGCAACAACATGACCCACTGTGCTTTGGGGCTGCGGCTGGATGTTTTTGAAAATCGGGGTGTCTGGGGCTCCCTGCTCCTCCTGGGTCTGTCCCGGACCAGCTGAGCGGACACCTTTGCTCTGCACAGCCTGGCAGCCATTGCAGGGAGGCGGGCCCACCCCAACATCTGGTAGCTCCG
Task1_train_28433
This variant affects gene CRYAA (crystallin alpha A) located on Chromosome 21. Evaluate its biological effect and specify any disease association.
Pathogenic; Cataract 9 multiple types
CCGGCCGCTTCTATAGACAGCATGACACCAAGGGCAGTGACCTCATTCCACAGGCTGAGTCCAGCCAGCCAGCCAAGCATCACCAGCCAGACGATTGACCCTAACGGACCAACCAACCCGTAACGACCCCTCCTACCATAACCAGTAGCCAGCCAGCCCATAACCAGCCAACTTATCTATAACCAGCCACCTGACCATAGCCAAACAACCAGCCGGCCCACCAGTAGCATTCAGCCCCTCAGCTGGCCCTGAGGGTTTGGAGACAGGTCGAGGGTCATGCCTGTCTGTCCAGGAGACAGTCACAGGCCCCCGAAAGCTCTGCCCCACTTGGTGTGTGGGAGAAGAGGCCGGCAGGTGACCGAAGCATCTCTGTTCTGATAACCGGGACCCGCCCTGTCTCTGCCAACCCCAGCAGGGACGGCACCCTCTGGGCAGCTCCACATGGCACGTTTGGATTTCAGGTTCGATCCGACCGGGACAAGTTCGTCATCTTCCTCGATGTGAAGCACTTCTCCCCGGAGGACCTCACCGTGAAGGTGCAGGACGACTTTGTGGAGATCCACGGAAAGCACAACGAGCGCCAGGTGAGCCCAGGCACTGAGAGGTGGGAGAGGGGGGCGAGTTGGGCGCGAGGACAAGGGGGTCACGGCGGGCACGACCGGGCCTGCACACCTGCACCATGCCTTCAACCCTGGGAGAGGGACGCTCTCCAGGGGACCCCGAATCAGGCCTGGCTTTTCCCCAAGGGAGGGGCCGTGCCCACCTGAGCACAGCCAGCCCCTCCCGGTGACAGAGGTCACCATTCCCGAGCTAATGTGGCTCAGGGATCCAGGTTAGGGTCCCTTCCCGGGCTGCACCCAGCCGTCGCCAGCTCCATCCCTGTCACCTGGATGCCAGGGTGGTCTTAGAAAGAACCCCAGGAAGTGGGAGTGCCCCGGGTGGCCGCCTCCTAGCCAGTGTACATCTTCACATGAACCCTACCTGAGGAAGCCAGTCCCCGACGGCATAGCTGCATCCGCTTGGAATGCTTTACAGGCATTGACACCTTCGCCTCACAGCAGCACTTTGGAACCAGTGTCCTCATTATTCCAGGGCACGGCTGGGGAACAAGGGGGTCCTCAGCCTGCTGGGTCCCACAGCTAGTACCGGGCAGGTGGACGGGAGCTTCTCCCCACAGTCACCCTGATGCCCCGCTCTTGCTCGGCTGGAGGCCTCGGATCTCCGTGGTGTTGAGGGAGCCGGGGCACTGGAGCCCTGGTGACCTGCATCTCCTGGCGGAGCCGGGAAGAGCTCATGGACTGTCACAGATGGACAGTGCCCCGCGGGGGCTGGAGAGCAGAGTGGGGCTGGAAGGTGGAACTCTTAGCCAAAGTCTTGGTTTCTTTTGGCCAGGGTCCTCTTTCAATGGCTGGAGAAGGTGGTGCTGGGGGGTGAACGCTGACCTCCTCATGTGCTGCCCCTCCCTCGCCTGGGCCCGGTAAAGCCCCCACGTAGCCCCAGCCAGCCTGGAACATGCTTCCTGAGCTCCCAGCTCTTGGTCTTTGCACCCAGTGGAGGAGGAGGTCAGCCCAGGGAGCTGAGTCTGCGGTTTAGGGCGTCCAGGGGACGTGGAAGCATGTGGGTCGTCTGGCCACATTAGGTAGGGCTGCAGAGACCTGGGCTAGAGCAGTCCTGCGGGGTCTGGAAGGGGAAGACTGGCTGAGGTGCGGGGCCTGGTCTGGAATGATCCTGCGATTTTGGAGTGAAGCCATGGAGCGGGAAGAGACAACCCCCCGCGGGGAATAGCCCGGCAAGTGGCCACGAGGCCAGGCTGAGGTCCAGAGAAGCAGGGGCATGAATCCATAAATCCCAGGGGGCCTGGCCATGGGATGTGCTGGCTGCACCCGGCCCCTGTGAGAGCCCCCGCAGGCTGGCCCCCTTCTGCAGTCAGTGGGGCTGGGGCAGCTTCTCTGGCATGGGGCGAGGCAGCCGCCTGCACAGTGGCCCCCCTGACTGTGCGCCCCCACCCTCTCCAGGACGACCACGGCTACATTTCCCGTGAGTTCCACCGCCGCTACCGCCTGCCGTCCAACGTGGACCAGTCGGCCCTCTCTTGCTCCCTGTCTGCCGATGGCATGCTGACCTTCTGTGGCCCCAAGATCCAGACTGGCCTGGATGCCACCCACGCCGAGCGAGCCATCCCCGTGTCGCGGGAGGAGAAGCCCACCTCGGCTCCCTCGTCCTAAGCAGGCATTGCCTCGGCTGGCTCCCCTGCAGCCCTGGCCCATCATGGGGGGAGCACCCTGAGGGCGGGGTGTCTGTCTTCCTTTGCTTCCCTTTTTTCCTTTCCACCTTCTCACATGGAATGAGGGTTTGAGAGAGCAGCCAGGAGAGCTTAGGGTCTCAGGGTGTCCCAGACCCCGACACCGGCCAGTGGCGGAAGTGACCGCACCTCACACTCCTTTAGATAGCAGCCTGGCTCCCCTGGGGTGCAGGCGCCTCAACTCTGCTGAGGGTCCAGAAGGAGGGGGTGACCTCCGGCCAGGTGCCTCCTGACACACCTGCAGCCTCCCTCCGCGGCGGGCCCTGCCCACACCTCCTGGGGCGCGTGAGGCCCGTGGGGCCGGGGCTTCTGTGCACCTGGGCTCTCGCGGCCTCTTCTCTCAGACCGTCTTCCTCCAACCCCTCTATGTAGTGCCGCTCTTGGGGACATGGGTCGCCCATGAGAGCGCAGCCCGCGGCAATCAATAAACAGCAGGTGATACAAGCAACCCGCCGTCTGCTGGTGCTGTCTCCATCAGGGGCGCGAGGGGCAGGAGGGCGGCGCCGGGAGGGAGGACAGCGGGGTCTCCTGCTCGCGTTGGACCCGGTGGCCTCGGAACGATGGGGTCGCCTGCGTCCCTTCCTTCTCCTGAGCTCAAGCGCCTCCCTCCACACTGGGCTGGAAGGAGAGGTTTTGGGGGCAGAGCCTCTGATGGGAAAGGGACTGGGGAGCACTTCCGAGAGCTGGGGGCGGGGAGGGACCTGGAAGGGGCTGCAGGGAATGGAGGGAGGCCGGGCTCCTTTCTCTGTCCGCGCCGGCACCGGGGCGGGACGCCAGCCCTGGCCTCCTTCTGCGGGGCCGTCCGGTTCTCTCGGGGTCTGCTGGGTCGTCCTGTTCTCTCGGGGGTCCTGCTGCCTTCGGGGCTGGGCTTTAAGGGCACTCGTGCTTTTGAGGAGGTGGAACTCGGCAGCTTCCCCTGGGCAACCCATCATGGCCCCGAGCTGGAGGCGGAAGCTCGCTCTGTCCCCTCCCGGGACCAGACACTGGGCGGCCATGCCAGACCCCGCCACGGGGAGGGAGACTCGGCCTGGGGGGCCCTGGCTGCCTGCTGCGCTCACCGAGGGGCATCCGGGGGGCCAGAGGGCACCCAAGGGGAAGCAGACGCCACGGCGGGTGGGCCCTGCCAGCGCCCTCAGCCAAGTAAAGCGCCCTCGACCCCGGAGGCCGAAGGCACCGGGACCCTGAGGCACTGGGACCCCCATGGCACCAGCAGGACGACCACAGGGGCGCAGCCTCCACCCGGGAGAACACAGACACTGACACCAACGGGTTTTCAAAAAGTCAGCAACAGGCATTAGCGTGGGCGGCCATAGTGACGCCCAGTGACATCACGTGCCACGGACACTGAACAGCACACACACCACACACTCCACACACACACACCACACACTCCACACACAACACACTCCACACACACCACAGACACACACACACCCCTCAACACACCATGCCCTTTGTCTCTCTTTGTATTCCTCTGGCCAGGCCGTGGTGTGACGGGTTCTGAGTCCTGGGAGTGGCTCCCCTAGACTCCCCCCCTCCTCCTCCCTCCAGCAGGACCTGCCCGGCTGTTGTGCCATCGAGTCCCCATTTGTACAGAAGGGGGTGCCCTGTGGTTGGCAACAACATGACCCACTGTGCTTTGGGGCTGCGGCTGGATGTTTTTGAAAATCGGGGTGTCTGGGGCTCCCTGCTCCTCCTGGGTCTGTCCCGGACCAGCTGAGCGGACACCTTTGCTCTGCACAGCCTGGCAGCCATTGCAGGGAGGCGGGCCCACCCCAACATCTGGTAGCTCCG
CCGGCCGCTTCTATAGACAGCATGACACCAAGGGCAGTGACCTCATTCCACAGGCTGAGTCCAGCCAGCCAGCCAAGCATCACCAGCCAGACGATTGACCCTAACGGACCAACCAACCCGTAACGACCCCTCCTACCATAACCAGTAGCCAGCCAGCCCATAACCAGCCAACTTATCTATAACCAGCCACCTGACCATAGCCAAACAACCAGCCGGCCCACCAGTAGCATTCAGCCCCTCAGCTGGCCCTGAGGGTTTGGAGACAGGTCGAGGGTCATGCCTGTCTGTCCAGGAGACAGTCACAGGCCCCCGAAAGCTCTGCCCCACTTGGTGTGTGGGAGAAGAGGCCGGCAGGTGACCGAAGCATCTCTGTTCTGATAACCGGGACCCGCCCTGTCTCTGCCAACCCCAGCAGGGACGGCACCCTCTGGGCAGCTCCACATGGCACGTTTGGATTTCAGGTTCGATCCGACCGGGACAAGTTCGTCATCTTCCTCGATGTGAAGCACTTCTCCCCGGAGGACCTCACCGTGAAGGTGCAGGACGACTTTGTGGAGATCCACGGAAAGCACAACGAGCGCCAGGTGAGCCCAGGCACTGAGAGGTGGGAGAGGGGGGCGAGTTGGGCGCGAGGACAAGGGGGTCACGGCGGGCACGACCGGGCCTGCACACCTGCACCATGCCTTCAACCCTGGGAGAGGGACGCTCTCCAGGGGACCCCGAATCAGGCCTGGCTTTTCCCCAAGGGAGGGGCCGTGCCCACCTGAGCACAGCCAGCCCCTCCCGGTGACAGAGGTCACCATTCCCGAGCTAATGTGGCTCAGGGATCCAGGTTAGGGTCCCTTCCCGGGCTGCACCCAGCCGTCGCCAGCTCCATCCCTGTCACCTGGATGCCAGGGTGGTCTTAGAAAGAACCCCAGGAAGTGGGAGTGCCCCGGGTGGCCGCCTCCTAGCCAGTGTACATCTTCACATGAACCCTACCTGAGGAAGCCAGTCCCCGACGGCATAGCTGCATCCGCTTGGAATGCTTTACAGGCATTGACACCTTCGCCTCACAGCAGCACTTTGGAACCAGTGTCCTCATTATTCCAGGGCACGGCTGGGGAACAAGGGGGTCCTCAGCCTGCTGGGTCCCACAGCTAGTACCGGGCAGGTGGACGGGAGCTTCTCCCCACAGTCACCCTGATGCCCCGCTCTTGCTCGGCTGGAGGCCTCGGATCTCCGTGGTGTTGAGGGAGCCGGGGCACTGGAGCCCTGGTGACCTGCATCTCCTGGCGGAGCCGGGAAGAGCTCATGGACTGTCACAGATGGACAGTGCCCCGCGGGGGCTGGAGAGCAGAGTGGGGCTGGAAGGTGGAACTCTTAGCCAAAGTCTTGGTTTCTTTTGGCCAGGGTCCTCTTTCAATGGCTGGAGAAGGTGGTGCTGGGGGGTGAACGCTGACCTCCTCATGTGCTGCCCCTCCCTCGCCTGGGCCCGGTAAAGCCCCCACGTAGCCCCAGCCAGCCTGGAACATGCTTCCTGAGCTCCCAGCTCTTGGTCTTTGCACCCAGTGGAGGAGGAGGTCAGCCCAGGGAGCTGAGTCTGCGGTTTAGGGCGTCCAGGGGACGTGGAAGCATGTGGGTCGTCTGGCCACATTAGGTAGGGCTGCAGAGACCTGGGCTAGAGCAGTCCTGCGGGGTCTGGAAGGGGAAGACTGGCTGAGGTGCGGGGCCTGGTCTGGAATGATCCTGCGATTTTGGAGTGAAGCCATGGAGCGGGAAGAGACAACCCCCCGCGGGGAATAGCCCGGCAAGTGGCCACGAGGCCAGGCTGAGGTCCAGAGAAGCAGGGGCATGAATCCATAAATCCCAGGGGGCCTGGCCATGGGATGTGCTGGCTGCACCCGGCCCCTGTGAGAGCCCCCGCAGGCTGGCCCCCTTCTGCAGTCAGTGGGGCTGGGGCAGCTTCTCTGGCATGGGGCGAGGCAGCCGCCTGCACAGTGGCCCCCCTGACTGTGCGCCCCCACCCTCTCCAGGACGACCACGGCTACATTTCCCGTGAGTTCCACTGCCGCTACCGCCTGCCGTCCAACGTGGACCAGTCGGCCCTCTCTTGCTCCCTGTCTGCCGATGGCATGCTGACCTTCTGTGGCCCCAAGATCCAGACTGGCCTGGATGCCACCCACGCCGAGCGAGCCATCCCCGTGTCGCGGGAGGAGAAGCCCACCTCGGCTCCCTCGTCCTAAGCAGGCATTGCCTCGGCTGGCTCCCCTGCAGCCCTGGCCCATCATGGGGGGAGCACCCTGAGGGCGGGGTGTCTGTCTTCCTTTGCTTCCCTTTTTTCCTTTCCACCTTCTCACATGGAATGAGGGTTTGAGAGAGCAGCCAGGAGAGCTTAGGGTCTCAGGGTGTCCCAGACCCCGACACCGGCCAGTGGCGGAAGTGACCGCACCTCACACTCCTTTAGATAGCAGCCTGGCTCCCCTGGGGTGCAGGCGCCTCAACTCTGCTGAGGGTCCAGAAGGAGGGGGTGACCTCCGGCCAGGTGCCTCCTGACACACCTGCAGCCTCCCTCCGCGGCGGGCCCTGCCCACACCTCCTGGGGCGCGTGAGGCCCGTGGGGCCGGGGCTTCTGTGCACCTGGGCTCTCGCGGCCTCTTCTCTCAGACCGTCTTCCTCCAACCCCTCTATGTAGTGCCGCTCTTGGGGACATGGGTCGCCCATGAGAGCGCAGCCCGCGGCAATCAATAAACAGCAGGTGATACAAGCAACCCGCCGTCTGCTGGTGCTGTCTCCATCAGGGGCGCGAGGGGCAGGAGGGCGGCGCCGGGAGGGAGGACAGCGGGGTCTCCTGCTCGCGTTGGACCCGGTGGCCTCGGAACGATGGGGTCGCCTGCGTCCCTTCCTTCTCCTGAGCTCAAGCGCCTCCCTCCACACTGGGCTGGAAGGAGAGGTTTTGGGGGCAGAGCCTCTGATGGGAAAGGGACTGGGGAGCACTTCCGAGAGCTGGGGGCGGGGAGGGACCTGGAAGGGGCTGCAGGGAATGGAGGGAGGCCGGGCTCCTTTCTCTGTCCGCGCCGGCACCGGGGCGGGACGCCAGCCCTGGCCTCCTTCTGCGGGGCCGTCCGGTTCTCTCGGGGTCTGCTGGGTCGTCCTGTTCTCTCGGGGGTCCTGCTGCCTTCGGGGCTGGGCTTTAAGGGCACTCGTGCTTTTGAGGAGGTGGAACTCGGCAGCTTCCCCTGGGCAACCCATCATGGCCCCGAGCTGGAGGCGGAAGCTCGCTCTGTCCCCTCCCGGGACCAGACACTGGGCGGCCATGCCAGACCCCGCCACGGGGAGGGAGACTCGGCCTGGGGGGCCCTGGCTGCCTGCTGCGCTCACCGAGGGGCATCCGGGGGGCCAGAGGGCACCCAAGGGGAAGCAGACGCCACGGCGGGTGGGCCCTGCCAGCGCCCTCAGCCAAGTAAAGCGCCCTCGACCCCGGAGGCCGAAGGCACCGGGACCCTGAGGCACTGGGACCCCCATGGCACCAGCAGGACGACCACAGGGGCGCAGCCTCCACCCGGGAGAACACAGACACTGACACCAACGGGTTTTCAAAAAGTCAGCAACAGGCATTAGCGTGGGCGGCCATAGTGACGCCCAGTGACATCACGTGCCACGGACACTGAACAGCACACACACCACACACTCCACACACACACACCACACACTCCACACACAACACACTCCACACACACCACAGACACACACACACCCCTCAACACACCATGCCCTTTGTCTCTCTTTGTATTCCTCTGGCCAGGCCGTGGTGTGACGGGTTCTGAGTCCTGGGAGTGGCTCCCCTAGACTCCCCCCCTCCTCCTCCCTCCAGCAGGACCTGCCCGGCTGTTGTGCCATCGAGTCCCCATTTGTACAGAAGGGGGTGCCCTGTGGTTGGCAACAACATGACCCACTGTGCTTTGGGGCTGCGGCTGGATGTTTTTGAAAATCGGGGTGTCTGGGGCTCCCTGCTCCTCCTGGGTCTGTCCCGGACCAGCTGAGCGGACACCTTTGCTCTGCACAGCCTGGCAGCCATTGCAGGGAGGCGGGCCCACCCCAACATCTGGTAGCTCCG
Task1_train_28434
A variant was discovered on Chromosome 21, affecting CRYAA (crystallin alpha A). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Cataract 9 multiple types
CGGCCGCTTCTATAGACAGCATGACACCAAGGGCAGTGACCTCATTCCACAGGCTGAGTCCAGCCAGCCAGCCAAGCATCACCAGCCAGACGATTGACCCTAACGGACCAACCAACCCGTAACGACCCCTCCTACCATAACCAGTAGCCAGCCAGCCCATAACCAGCCAACTTATCTATAACCAGCCACCTGACCATAGCCAAACAACCAGCCGGCCCACCAGTAGCATTCAGCCCCTCAGCTGGCCCTGAGGGTTTGGAGACAGGTCGAGGGTCATGCCTGTCTGTCCAGGAGACAGTCACAGGCCCCCGAAAGCTCTGCCCCACTTGGTGTGTGGGAGAAGAGGCCGGCAGGTGACCGAAGCATCTCTGTTCTGATAACCGGGACCCGCCCTGTCTCTGCCAACCCCAGCAGGGACGGCACCCTCTGGGCAGCTCCACATGGCACGTTTGGATTTCAGGTTCGATCCGACCGGGACAAGTTCGTCATCTTCCTCGATGTGAAGCACTTCTCCCCGGAGGACCTCACCGTGAAGGTGCAGGACGACTTTGTGGAGATCCACGGAAAGCACAACGAGCGCCAGGTGAGCCCAGGCACTGAGAGGTGGGAGAGGGGGGCGAGTTGGGCGCGAGGACAAGGGGGTCACGGCGGGCACGACCGGGCCTGCACACCTGCACCATGCCTTCAACCCTGGGAGAGGGACGCTCTCCAGGGGACCCCGAATCAGGCCTGGCTTTTCCCCAAGGGAGGGGCCGTGCCCACCTGAGCACAGCCAGCCCCTCCCGGTGACAGAGGTCACCATTCCCGAGCTAATGTGGCTCAGGGATCCAGGTTAGGGTCCCTTCCCGGGCTGCACCCAGCCGTCGCCAGCTCCATCCCTGTCACCTGGATGCCAGGGTGGTCTTAGAAAGAACCCCAGGAAGTGGGAGTGCCCCGGGTGGCCGCCTCCTAGCCAGTGTACATCTTCACATGAACCCTACCTGAGGAAGCCAGTCCCCGACGGCATAGCTGCATCCGCTTGGAATGCTTTACAGGCATTGACACCTTCGCCTCACAGCAGCACTTTGGAACCAGTGTCCTCATTATTCCAGGGCACGGCTGGGGAACAAGGGGGTCCTCAGCCTGCTGGGTCCCACAGCTAGTACCGGGCAGGTGGACGGGAGCTTCTCCCCACAGTCACCCTGATGCCCCGCTCTTGCTCGGCTGGAGGCCTCGGATCTCCGTGGTGTTGAGGGAGCCGGGGCACTGGAGCCCTGGTGACCTGCATCTCCTGGCGGAGCCGGGAAGAGCTCATGGACTGTCACAGATGGACAGTGCCCCGCGGGGGCTGGAGAGCAGAGTGGGGCTGGAAGGTGGAACTCTTAGCCAAAGTCTTGGTTTCTTTTGGCCAGGGTCCTCTTTCAATGGCTGGAGAAGGTGGTGCTGGGGGGTGAACGCTGACCTCCTCATGTGCTGCCCCTCCCTCGCCTGGGCCCGGTAAAGCCCCCACGTAGCCCCAGCCAGCCTGGAACATGCTTCCTGAGCTCCCAGCTCTTGGTCTTTGCACCCAGTGGAGGAGGAGGTCAGCCCAGGGAGCTGAGTCTGCGGTTTAGGGCGTCCAGGGGACGTGGAAGCATGTGGGTCGTCTGGCCACATTAGGTAGGGCTGCAGAGACCTGGGCTAGAGCAGTCCTGCGGGGTCTGGAAGGGGAAGACTGGCTGAGGTGCGGGGCCTGGTCTGGAATGATCCTGCGATTTTGGAGTGAAGCCATGGAGCGGGAAGAGACAACCCCCCGCGGGGAATAGCCCGGCAAGTGGCCACGAGGCCAGGCTGAGGTCCAGAGAAGCAGGGGCATGAATCCATAAATCCCAGGGGGCCTGGCCATGGGATGTGCTGGCTGCACCCGGCCCCTGTGAGAGCCCCCGCAGGCTGGCCCCCTTCTGCAGTCAGTGGGGCTGGGGCAGCTTCTCTGGCATGGGGCGAGGCAGCCGCCTGCACAGTGGCCCCCCTGACTGTGCGCCCCCACCCTCTCCAGGACGACCACGGCTACATTTCCCGTGAGTTCCACCGCCGCTACCGCCTGCCGTCCAACGTGGACCAGTCGGCCCTCTCTTGCTCCCTGTCTGCCGATGGCATGCTGACCTTCTGTGGCCCCAAGATCCAGACTGGCCTGGATGCCACCCACGCCGAGCGAGCCATCCCCGTGTCGCGGGAGGAGAAGCCCACCTCGGCTCCCTCGTCCTAAGCAGGCATTGCCTCGGCTGGCTCCCCTGCAGCCCTGGCCCATCATGGGGGGAGCACCCTGAGGGCGGGGTGTCTGTCTTCCTTTGCTTCCCTTTTTTCCTTTCCACCTTCTCACATGGAATGAGGGTTTGAGAGAGCAGCCAGGAGAGCTTAGGGTCTCAGGGTGTCCCAGACCCCGACACCGGCCAGTGGCGGAAGTGACCGCACCTCACACTCCTTTAGATAGCAGCCTGGCTCCCCTGGGGTGCAGGCGCCTCAACTCTGCTGAGGGTCCAGAAGGAGGGGGTGACCTCCGGCCAGGTGCCTCCTGACACACCTGCAGCCTCCCTCCGCGGCGGGCCCTGCCCACACCTCCTGGGGCGCGTGAGGCCCGTGGGGCCGGGGCTTCTGTGCACCTGGGCTCTCGCGGCCTCTTCTCTCAGACCGTCTTCCTCCAACCCCTCTATGTAGTGCCGCTCTTGGGGACATGGGTCGCCCATGAGAGCGCAGCCCGCGGCAATCAATAAACAGCAGGTGATACAAGCAACCCGCCGTCTGCTGGTGCTGTCTCCATCAGGGGCGCGAGGGGCAGGAGGGCGGCGCCGGGAGGGAGGACAGCGGGGTCTCCTGCTCGCGTTGGACCCGGTGGCCTCGGAACGATGGGGTCGCCTGCGTCCCTTCCTTCTCCTGAGCTCAAGCGCCTCCCTCCACACTGGGCTGGAAGGAGAGGTTTTGGGGGCAGAGCCTCTGATGGGAAAGGGACTGGGGAGCACTTCCGAGAGCTGGGGGCGGGGAGGGACCTGGAAGGGGCTGCAGGGAATGGAGGGAGGCCGGGCTCCTTTCTCTGTCCGCGCCGGCACCGGGGCGGGACGCCAGCCCTGGCCTCCTTCTGCGGGGCCGTCCGGTTCTCTCGGGGTCTGCTGGGTCGTCCTGTTCTCTCGGGGGTCCTGCTGCCTTCGGGGCTGGGCTTTAAGGGCACTCGTGCTTTTGAGGAGGTGGAACTCGGCAGCTTCCCCTGGGCAACCCATCATGGCCCCGAGCTGGAGGCGGAAGCTCGCTCTGTCCCCTCCCGGGACCAGACACTGGGCGGCCATGCCAGACCCCGCCACGGGGAGGGAGACTCGGCCTGGGGGGCCCTGGCTGCCTGCTGCGCTCACCGAGGGGCATCCGGGGGGCCAGAGGGCACCCAAGGGGAAGCAGACGCCACGGCGGGTGGGCCCTGCCAGCGCCCTCAGCCAAGTAAAGCGCCCTCGACCCCGGAGGCCGAAGGCACCGGGACCCTGAGGCACTGGGACCCCCATGGCACCAGCAGGACGACCACAGGGGCGCAGCCTCCACCCGGGAGAACACAGACACTGACACCAACGGGTTTTCAAAAAGTCAGCAACAGGCATTAGCGTGGGCGGCCATAGTGACGCCCAGTGACATCACGTGCCACGGACACTGAACAGCACACACACCACACACTCCACACACACACACCACACACTCCACACACAACACACTCCACACACACCACAGACACACACACACCCCTCAACACACCATGCCCTTTGTCTCTCTTTGTATTCCTCTGGCCAGGCCGTGGTGTGACGGGTTCTGAGTCCTGGGAGTGGCTCCCCTAGACTCCCCCCCTCCTCCTCCCTCCAGCAGGACCTGCCCGGCTGTTGTGCCATCGAGTCCCCATTTGTACAGAAGGGGGTGCCCTGTGGTTGGCAACAACATGACCCACTGTGCTTTGGGGCTGCGGCTGGATGTTTTTGAAAATCGGGGTGTCTGGGGCTCCCTGCTCCTCCTGGGTCTGTCCCGGACCAGCTGAGCGGACACCTTTGCTCTGCACAGCCTGGCAGCCATTGCAGGGAGGCGGGCCCACCCCAACATCTGGTAGCTCCGG
CGGCCGCTTCTATAGACAGCATGACACCAAGGGCAGTGACCTCATTCCACAGGCTGAGTCCAGCCAGCCAGCCAAGCATCACCAGCCAGACGATTGACCCTAACGGACCAACCAACCCGTAACGACCCCTCCTACCATAACCAGTAGCCAGCCAGCCCATAACCAGCCAACTTATCTATAACCAGCCACCTGACCATAGCCAAACAACCAGCCGGCCCACCAGTAGCATTCAGCCCCTCAGCTGGCCCTGAGGGTTTGGAGACAGGTCGAGGGTCATGCCTGTCTGTCCAGGAGACAGTCACAGGCCCCCGAAAGCTCTGCCCCACTTGGTGTGTGGGAGAAGAGGCCGGCAGGTGACCGAAGCATCTCTGTTCTGATAACCGGGACCCGCCCTGTCTCTGCCAACCCCAGCAGGGACGGCACCCTCTGGGCAGCTCCACATGGCACGTTTGGATTTCAGGTTCGATCCGACCGGGACAAGTTCGTCATCTTCCTCGATGTGAAGCACTTCTCCCCGGAGGACCTCACCGTGAAGGTGCAGGACGACTTTGTGGAGATCCACGGAAAGCACAACGAGCGCCAGGTGAGCCCAGGCACTGAGAGGTGGGAGAGGGGGGCGAGTTGGGCGCGAGGACAAGGGGGTCACGGCGGGCACGACCGGGCCTGCACACCTGCACCATGCCTTCAACCCTGGGAGAGGGACGCTCTCCAGGGGACCCCGAATCAGGCCTGGCTTTTCCCCAAGGGAGGGGCCGTGCCCACCTGAGCACAGCCAGCCCCTCCCGGTGACAGAGGTCACCATTCCCGAGCTAATGTGGCTCAGGGATCCAGGTTAGGGTCCCTTCCCGGGCTGCACCCAGCCGTCGCCAGCTCCATCCCTGTCACCTGGATGCCAGGGTGGTCTTAGAAAGAACCCCAGGAAGTGGGAGTGCCCCGGGTGGCCGCCTCCTAGCCAGTGTACATCTTCACATGAACCCTACCTGAGGAAGCCAGTCCCCGACGGCATAGCTGCATCCGCTTGGAATGCTTTACAGGCATTGACACCTTCGCCTCACAGCAGCACTTTGGAACCAGTGTCCTCATTATTCCAGGGCACGGCTGGGGAACAAGGGGGTCCTCAGCCTGCTGGGTCCCACAGCTAGTACCGGGCAGGTGGACGGGAGCTTCTCCCCACAGTCACCCTGATGCCCCGCTCTTGCTCGGCTGGAGGCCTCGGATCTCCGTGGTGTTGAGGGAGCCGGGGCACTGGAGCCCTGGTGACCTGCATCTCCTGGCGGAGCCGGGAAGAGCTCATGGACTGTCACAGATGGACAGTGCCCCGCGGGGGCTGGAGAGCAGAGTGGGGCTGGAAGGTGGAACTCTTAGCCAAAGTCTTGGTTTCTTTTGGCCAGGGTCCTCTTTCAATGGCTGGAGAAGGTGGTGCTGGGGGGTGAACGCTGACCTCCTCATGTGCTGCCCCTCCCTCGCCTGGGCCCGGTAAAGCCCCCACGTAGCCCCAGCCAGCCTGGAACATGCTTCCTGAGCTCCCAGCTCTTGGTCTTTGCACCCAGTGGAGGAGGAGGTCAGCCCAGGGAGCTGAGTCTGCGGTTTAGGGCGTCCAGGGGACGTGGAAGCATGTGGGTCGTCTGGCCACATTAGGTAGGGCTGCAGAGACCTGGGCTAGAGCAGTCCTGCGGGGTCTGGAAGGGGAAGACTGGCTGAGGTGCGGGGCCTGGTCTGGAATGATCCTGCGATTTTGGAGTGAAGCCATGGAGCGGGAAGAGACAACCCCCCGCGGGGAATAGCCCGGCAAGTGGCCACGAGGCCAGGCTGAGGTCCAGAGAAGCAGGGGCATGAATCCATAAATCCCAGGGGGCCTGGCCATGGGATGTGCTGGCTGCACCCGGCCCCTGTGAGAGCCCCCGCAGGCTGGCCCCCTTCTGCAGTCAGTGGGGCTGGGGCAGCTTCTCTGGCATGGGGCGAGGCAGCCGCCTGCACAGTGGCCCCCCTGACTGTGCGCCCCCACCCTCTCCAGGACGACCACGGCTACATTTCCCGTGAGTTCCACCACCGCTACCGCCTGCCGTCCAACGTGGACCAGTCGGCCCTCTCTTGCTCCCTGTCTGCCGATGGCATGCTGACCTTCTGTGGCCCCAAGATCCAGACTGGCCTGGATGCCACCCACGCCGAGCGAGCCATCCCCGTGTCGCGGGAGGAGAAGCCCACCTCGGCTCCCTCGTCCTAAGCAGGCATTGCCTCGGCTGGCTCCCCTGCAGCCCTGGCCCATCATGGGGGGAGCACCCTGAGGGCGGGGTGTCTGTCTTCCTTTGCTTCCCTTTTTTCCTTTCCACCTTCTCACATGGAATGAGGGTTTGAGAGAGCAGCCAGGAGAGCTTAGGGTCTCAGGGTGTCCCAGACCCCGACACCGGCCAGTGGCGGAAGTGACCGCACCTCACACTCCTTTAGATAGCAGCCTGGCTCCCCTGGGGTGCAGGCGCCTCAACTCTGCTGAGGGTCCAGAAGGAGGGGGTGACCTCCGGCCAGGTGCCTCCTGACACACCTGCAGCCTCCCTCCGCGGCGGGCCCTGCCCACACCTCCTGGGGCGCGTGAGGCCCGTGGGGCCGGGGCTTCTGTGCACCTGGGCTCTCGCGGCCTCTTCTCTCAGACCGTCTTCCTCCAACCCCTCTATGTAGTGCCGCTCTTGGGGACATGGGTCGCCCATGAGAGCGCAGCCCGCGGCAATCAATAAACAGCAGGTGATACAAGCAACCCGCCGTCTGCTGGTGCTGTCTCCATCAGGGGCGCGAGGGGCAGGAGGGCGGCGCCGGGAGGGAGGACAGCGGGGTCTCCTGCTCGCGTTGGACCCGGTGGCCTCGGAACGATGGGGTCGCCTGCGTCCCTTCCTTCTCCTGAGCTCAAGCGCCTCCCTCCACACTGGGCTGGAAGGAGAGGTTTTGGGGGCAGAGCCTCTGATGGGAAAGGGACTGGGGAGCACTTCCGAGAGCTGGGGGCGGGGAGGGACCTGGAAGGGGCTGCAGGGAATGGAGGGAGGCCGGGCTCCTTTCTCTGTCCGCGCCGGCACCGGGGCGGGACGCCAGCCCTGGCCTCCTTCTGCGGGGCCGTCCGGTTCTCTCGGGGTCTGCTGGGTCGTCCTGTTCTCTCGGGGGTCCTGCTGCCTTCGGGGCTGGGCTTTAAGGGCACTCGTGCTTTTGAGGAGGTGGAACTCGGCAGCTTCCCCTGGGCAACCCATCATGGCCCCGAGCTGGAGGCGGAAGCTCGCTCTGTCCCCTCCCGGGACCAGACACTGGGCGGCCATGCCAGACCCCGCCACGGGGAGGGAGACTCGGCCTGGGGGGCCCTGGCTGCCTGCTGCGCTCACCGAGGGGCATCCGGGGGGCCAGAGGGCACCCAAGGGGAAGCAGACGCCACGGCGGGTGGGCCCTGCCAGCGCCCTCAGCCAAGTAAAGCGCCCTCGACCCCGGAGGCCGAAGGCACCGGGACCCTGAGGCACTGGGACCCCCATGGCACCAGCAGGACGACCACAGGGGCGCAGCCTCCACCCGGGAGAACACAGACACTGACACCAACGGGTTTTCAAAAAGTCAGCAACAGGCATTAGCGTGGGCGGCCATAGTGACGCCCAGTGACATCACGTGCCACGGACACTGAACAGCACACACACCACACACTCCACACACACACACCACACACTCCACACACAACACACTCCACACACACCACAGACACACACACACCCCTCAACACACCATGCCCTTTGTCTCTCTTTGTATTCCTCTGGCCAGGCCGTGGTGTGACGGGTTCTGAGTCCTGGGAGTGGCTCCCCTAGACTCCCCCCCTCCTCCTCCCTCCAGCAGGACCTGCCCGGCTGTTGTGCCATCGAGTCCCCATTTGTACAGAAGGGGGTGCCCTGTGGTTGGCAACAACATGACCCACTGTGCTTTGGGGCTGCGGCTGGATGTTTTTGAAAATCGGGGTGTCTGGGGCTCCCTGCTCCTCCTGGGTCTGTCCCGGACCAGCTGAGCGGACACCTTTGCTCTGCACAGCCTGGCAGCCATTGCAGGGAGGCGGGCCCACCCCAACATCTGGTAGCTCCGG
Task1_train_28435
Gene SIK1 (salt inducible kinase 1) on Chromosome 21 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Developmental and epileptic encephalopathy, 30
GTGCTGACAGGGACGCTTCTTAACAACAGGAGCGAGGGAAGCTGAAACCTGGAACACAAACGTATAGTACAAAATGTAACAAATAAGTAGTGTCTACCTGTCTCCCATGTAGATACATATACAGGATTTGCTTTAAAAAAAAAACAAAAACTTAAAAACACTGACCTAAACCTCTCACTTTACCTTCCTTGAACAAAACCCAAAAAGCCTAGGTGGGGGGTGGGGAGGGGGGTCCCGGCCCAGGGCAGGCACCGCCCTGAGCCATGAGCCATGAGCCATGAGCCTGTCTCCCAGCTGCCCAGCCCTACAGTCAGCCTCCAATATTGCACAACTTCACCCAAGTCAGGTGTTCTTGTTGGACCCCATCATGAAATGCATAAACGTCAGCAGCAGCGGAAACGGGAGGTGCAGCAGGAAGAAGCTTCTGGGCTTCCGCAAGGGCACGCAGGGGCTCAGGGCCAAGTGACCCTCAGGACGGAGTCCCCAGCACTTTGAAGTCACCTCTGCCCTCTCTGAGGTTCTTCCTGCCGTTCCTCCGCAGAGTCCTGGAAAACTAATCCTTGAGCAGTTTATGAAACTTCTCAACTAAAATAAGAAAAAAAAGTCTTCCAGGTTTTGATTTCAGGGGAGAGAATTCCTAGAATCTGTAGATGATCTTTGCCTGGGCTGCTTTAAAACTGATACATGAAGCAGAAAGTTCACAGTTTTCCTTAAAGCAGAAATCAGGAAGTGGAGAGCGTTGACTAAAGAAATGGATAGTAATCAATGCACGCGCACACACACACACACACACACACACACAAGCGGACAACAATGCGCCCGCTCGTTTCCGTAGACGTCCGAGGTAATCATCTCAACCACGACGAACCCAGAGAGAGGGGCCGAGATCCCCACACCACGGCACTGCACGTGTTCCCTCCACCCCGCTCCCCTCCTGCCCCCGCCCCCAGACACGCCCCTCAATTATCTTTCTTCCTAAAGTTTCCAGTCCCTACTCAAAGTTGAGGTCACTCAGTGCAAGAAAAAAATAAAACAAAAATAAACTAAAAAGCCAAAACACCTAACGTATTGCTTATTTCGCTTCTAGAAAGTTCTTGGCTTTGAGGCCAGATGTCTTCACCTCCTCTGAAGTTATTGCTGTAAGAGTCAGTGTCCGTGCCAGGATGCAGGGCTGCCCTCACTGCACCAGGACAAACGTGCCTAGGGAGCAGGGCATCAGGTCCTCCATCTCACAGTCCCCCTGCAGCAGCCCCAGGGGCTCACAACCTGGGGCCAGCCTGGCCAGGCGTGGTGGGGGCACAGCGGGGAGGGCGGTGGGGCCGGTGCCAATGTGCAGGTGTGTGTCCAGGAGCTGCGCCGCTGAGGCCACCGGGGACGCGCCGGTCTGCAGGAGTGGGGGCGGCAGCAGCGGGAGCCCCGACGTGAGGAGGGTGCTGGGGAGCGGGGCAGCCCCAGGGCCATCACAGGGGGCGATCACAAACGGGGCAGGGGCCGGCTGGGGGGCCTGGGAGCAGCCGGGTGCAGCGGCCGGGTGGTGCTGTAACTGGAGCAGCCTGTGGGAACAGAGGACAGGTGGTCACTGCGCCGGCTCGCAGGGTTCTCGGGTTTCCGAGTGCCCGTGTGGCAGGGCCCGCCCGAGGAGCTGCCAGCCGCGGCTGCCGAGGGCAGGTGCGTGGCTGATCCCTGACCGCGCCCCACCTTTCATTCTCCACCCGGTTTCTCAGCAGCTCAGAGATGCGGCCACAAGGCGCCCTCGCTCCCCGCCACCCTCACCCACCCAGGGACTTTAAAGGACACGCCCGCCTGCTGCACCCCCATGGCTCAGCACCTAGGACCTACGCCCCACACATCTCCCTGGCTGGGAGCGGGGGTGTGCACTGGGCTACAGAGAGGAGGGAACCACTTAGCAGATGAGGTTCCTCGAGGAGATAACCTGCCGTGTGCCCACCCGGGGTCCCAGGGCGGGGGCAGGCCCTACCTCTGCTGCTCTAGCACCTCCTCCAGCAGGCTCCAGCCCTCCCGGCTGCCGGCTGCGCCGCCGTGCAGGCCTGGGCTCTGTGCAGGGGCGTGGAAGGGGCTCAGGCCGCCCCTGCTGGCCCGGCTGGCGGGGGCCTGGCACACCTGGCGAGCCAGCCCCTTGATTTTGTTCAGTCCCAGAAACCCTTTGGTCCGCGTGGTCTTCCTCAGCTGCTGCCGAAAGGCCTTCAGCCCTGCAGGGAGAATGAATCAGGAGGTCAACGGCCACCCGGCTCTCAGCCCAGCATCCACGGCCCTTGGCTTAAGGGGTTTCCAAGCCTCAGGTTGGGGGTAAGGAAAGGACGGGTGACACAAGCACGTCTGGACAGGAGTCTGGCACCTAAGCCCCAGGATGGCGTGGAGGCAGCCGGCAGCCAGGGGCCCTCCCTCCTCCAAGTCGGGAGGTGCTGCCCAGCACAGAGTCGTCTCCTGTGCTTTCAGAACCAGCCATGGAGGCCGCGTGCTCAGGGACCCATGTGTGTCTATCCCAGCAGGCCGTGACGCCCCGAGCCACCAGAGCACTGAGCACCCCAGCCTGCCCAGAGCACTGAGGGTCCCACCCAGGCCCGGTGGAGAACAGGGGGTGCCATCTGCCATCACGGACAAAGTCACGTACTGCCAGAGACACACATGGTCCCCTGGGGAAGGTGGAGGTAAGTGTGGGAGGAGCGTGGCTCACCTTGAGTCAGTGAGGTGTCCGACGCCCGCCGTCCCTCCTGGAAGCTGACAGGGAGCAGAACAGCTCCTCCCAAGCCCCCCTGAGCCTGCAGCACTGGGGTGGCGGACTGCGACCCCAGGAAGGGCGAGGCCAGCCTGACCGGGGAGCAGGCGCCCAGCAGCCCCTGAGTGGCCGGGGTGCCACTGAGCCCCGCGGGGCTTTTGCTCGCAGAGAAGGTCAGACAACTGTCAGAGCTGGTTCCCTCTGCAGGACTTGCCGTGGTGGAGGGGGAGACGACTATACCTGTGGGGGGAGGACAGCGCTTTTGATGCTGCAGTGCAAAGGAATAGGCTCCCCCGGCCACTGCTGGGCACACATGGCTGCGCTGGCCTCCCCATCCCCACCATCAACCTGGTGGGAAGAGGGCTCGAGGCCACCAGAGCCCAGGGAGCCACAAAGGCAAGCCACCATCACGGTGCAGCTGCAGGGGGCAGGTCATAGTGGGCCTCAGGCCAAGGGGCTGCCCTCCCGGCACCCAGGGGCGGCCTGGGGAGGACCCTGCTGGAGGCCAGACCCCATGCTGTATCCTCCACTGGAACGACCACATGCAGGGCAGGCTCTAAACATCAACTGTGTGGTCTCAGGGATTAAAACAAATGGCAAATCCTGAGAAGTCCAACCTGAGAGGCTGCCGGGCAAAACGTCCATTCTAAATTAGCCCACCCTCACGTCGACCGTAAGCCTATCCACCGGTGTCCTCCTGGGCCCCCGGGGACACTTACATGGCGCGGTGAGTGGGGAGAGGCGGGTGGAGACCTCGGCCAGGGTGTGCCTCCGGCCCGTGCTGCTGGGCAGGGACTCCTGCGTGTCCTGCTCCTCCTCTAGGCCCGGCCCCTGCCTGGCCTCCTCACTGATGGCTGTGTCCAGCAGGCTGCTTGGGGACACGGGCCGGGGCCGGAACACTCCGCTGCAGCTGGCATCCACCGGGAAGAACAAGGGCTGCGTTGGAGAGACACAAGCCAGTGACTTCTCGGACTCCAGGTGACCCGGGCACACCGGGGGCACCAGGGCTGGGCTGAGGCGAGCCCTCTGCACACCCGCTGTGGGCACTCACCCACTGCAGCGAGCTCTGGAGCTCACAGTCCATCTCGGCCTGGAGGACGGACTGCACCAAGGTCTGCGGCTGCGGGCACAGCAAGGCAGGTCGGAAAGGGTCGGTGGAAAGACCTTCCTGAGGCACCTGGGGCCGGCAGACGGGAAAGACGCTGTCAGGGGAGCGACTCCGGACCACCAGCGCCATCAAGAGAAGAAACAAGCTGGCTTCTGTCTGGAGTGCAAGCTGCCTCGCTGGTGGGCATGACAGCTGACGGAGGGACACTGGCTGGCCAGGCTGGGCTCAGGACCAGGTGCTGGTGCTGCGCT
GTGCTGACAGGGACGCTTCTTAACAACAGGAGCGAGGGAAGCTGAAACCTGGAACACAAACGTATAGTACAAAATGTAACAAATAAGTAGTGTCTACCTGTCTCCCATGTAGATACATATACAGGATTTGCTTTAAAAAAAAAACAAAAACTTAAAAACACTGACCTAAACCTCTCACTTTACCTTCCTTGAACAAAACCCAAAAAGCCTAGGTGGGGGGTGGGGAGGGGGGTCCCGGCCCAGGGCAGGCACCGCCCTGAGCCATGAGCCATGAGCCATGAGCCTGTCTCCCAGCTGCCCAGCCCTACAGTCAGCCTCCAATATTGCACAACTTCACCCAAGTCAGGTGTTCTTGTTGGACCCCATCATGAAATGCATAAACGTCAGCAGCAGCGGAAACGGGAGGTGCAGCAGGAAGAAGCTTCTGGGCTTCCGCAAGGGCACGCAGGGGCTCAGGGCCAAGTGACCCTCAGGACGGAGTCCCCAGCACTTTGAAGTCACCTCTGCCCTCTCTGAGGTTCTTCCTGCCGTTCCTCCGCAGAGTCCTGGAAAACTAATCCTTGAGCAGTTTATGAAACTTCTCAACTAAAATAAGAAAAAAAAGTCTTCCAGGTTTTGATTTCAGGGGAGAGAATTCCTAGAATCTGTAGATGATCTTTGCCTGGGCTGCTTTAAAACTGATACATGAAGCAGAAAGTTCACAGTTTTCCTTAAAGCAGAAATCAGGAAGTGGAGAGCGTTGACTAAAGAAATGGATAGTAATCAATGCACGCGCACACACACACACACACACACACACACAAGCGGACAACAATGCGCCCGCTCGTTTCCGTAGACGTCCGAGGTAATCATCTCAACCACGACGAACCCAGAGAGAGGGGCCGAGATCCCCACACCACGGCACTGCACGTGTTCCCTCCACCCCGCTCCCCTCCTGCCCCCGCCCCCAGACACGCCCCTCAATTATCTTTCTTCCTAAAGTTTCCAGTCCCTACTCAAAGTTGAGGTCACTCAGTGCAAGAAAAAAATAAAACAAAAATAAACTAAAAAGCCAAAACACCTAACGTATTGCTTATTTCGCTTCTAGAAAGTTCTTGGCTTTGAGGCCAGATGTCTTCACCTCCTCTGAAGTTATTGCTGTAAGAGTCAGTGTCCGTGCCAGGATGCAGGGCTGCCCTCACTGCACCAGGACAAACGTGCCTAGGGAGCAGGGCATCAGGTCCTCCATCTCACAGTCCCCCTGCAGCAGCCCCAGGGGCTCACAACCTGGGGCCAGCCTGGCCAGGCGTGGTGGGGGCACAGCGGGGAGGGCGGTGGGGCCGGTGCCAATGTGCAGGTGTGTGTCCAGGAGCTGCGCCGCTGAGGCCACCGGGGACGCGCCGGTCTGCAGGAGTGGGGGCGGCAGCAGCGGGAGCCCCGACGTGAGGAGGGTGCTGGGGAGCGGGGCAGCCCCAGGGCCATCACAGGGGGCGATCACAAACGGGGCAGGGGCCGGCTGGGGGGCCTGGGAGCAGCCGGGTGCAGCGGCCGGGTGGTGCTGTAACTGGAGCAGCCTGTGGGAACAGAGGACAGGTGGTCACTGCGCCGGCTCGCAGGGTTCTCGGGTTTCCGAGTGCCCGTGTGGCAGGGCCCGCCCGAGGAGCTGCCAGCCGCGGCTGCCGAGGGCAGGTGCGTGGCTGATCCCTGACCGCGCCCCACCTTTCATTCTCCACCCGGTTTCTCAGCAGCTCAGAGATGCGGCCACAAGGCGCCCTCGCTCCCCGCCACCCTCACCCACCCAGGGACTTTAAAGGACACGCCCGCCTGCTGCACCCCCATGGCTCAGCACCTAGGACCTACGCCCCACACATCTCCCTGGCTGGGAGCGGGGGTGTGCACTGGGCTACAGAGAGGAGGGAACCACTTAGCAGATGAGGTTCCTCGAGGAGATAACCTGCCGTGTGCCCACCCGGGGTCCCAGGGCGGGGGCAGGCCCTACCTCTGCTGCTCTAGCACCTCCTCCAGCAGGCTCCAGCCCTCCCGGCTGCCGGCTGCGCCGCCGTGCAGGCTTGGGCTCTGTGCAGGGGCGTGGAAGGGGCTCAGGCCGCCCCTGCTGGCCCGGCTGGCGGGGGCCTGGCACACCTGGCGAGCCAGCCCCTTGATTTTGTTCAGTCCCAGAAACCCTTTGGTCCGCGTGGTCTTCCTCAGCTGCTGCCGAAAGGCCTTCAGCCCTGCAGGGAGAATGAATCAGGAGGTCAACGGCCACCCGGCTCTCAGCCCAGCATCCACGGCCCTTGGCTTAAGGGGTTTCCAAGCCTCAGGTTGGGGGTAAGGAAAGGACGGGTGACACAAGCACGTCTGGACAGGAGTCTGGCACCTAAGCCCCAGGATGGCGTGGAGGCAGCCGGCAGCCAGGGGCCCTCCCTCCTCCAAGTCGGGAGGTGCTGCCCAGCACAGAGTCGTCTCCTGTGCTTTCAGAACCAGCCATGGAGGCCGCGTGCTCAGGGACCCATGTGTGTCTATCCCAGCAGGCCGTGACGCCCCGAGCCACCAGAGCACTGAGCACCCCAGCCTGCCCAGAGCACTGAGGGTCCCACCCAGGCCCGGTGGAGAACAGGGGGTGCCATCTGCCATCACGGACAAAGTCACGTACTGCCAGAGACACACATGGTCCCCTGGGGAAGGTGGAGGTAAGTGTGGGAGGAGCGTGGCTCACCTTGAGTCAGTGAGGTGTCCGACGCCCGCCGTCCCTCCTGGAAGCTGACAGGGAGCAGAACAGCTCCTCCCAAGCCCCCCTGAGCCTGCAGCACTGGGGTGGCGGACTGCGACCCCAGGAAGGGCGAGGCCAGCCTGACCGGGGAGCAGGCGCCCAGCAGCCCCTGAGTGGCCGGGGTGCCACTGAGCCCCGCGGGGCTTTTGCTCGCAGAGAAGGTCAGACAACTGTCAGAGCTGGTTCCCTCTGCAGGACTTGCCGTGGTGGAGGGGGAGACGACTATACCTGTGGGGGGAGGACAGCGCTTTTGATGCTGCAGTGCAAAGGAATAGGCTCCCCCGGCCACTGCTGGGCACACATGGCTGCGCTGGCCTCCCCATCCCCACCATCAACCTGGTGGGAAGAGGGCTCGAGGCCACCAGAGCCCAGGGAGCCACAAAGGCAAGCCACCATCACGGTGCAGCTGCAGGGGGCAGGTCATAGTGGGCCTCAGGCCAAGGGGCTGCCCTCCCGGCACCCAGGGGCGGCCTGGGGAGGACCCTGCTGGAGGCCAGACCCCATGCTGTATCCTCCACTGGAACGACCACATGCAGGGCAGGCTCTAAACATCAACTGTGTGGTCTCAGGGATTAAAACAAATGGCAAATCCTGAGAAGTCCAACCTGAGAGGCTGCCGGGCAAAACGTCCATTCTAAATTAGCCCACCCTCACGTCGACCGTAAGCCTATCCACCGGTGTCCTCCTGGGCCCCCGGGGACACTTACATGGCGCGGTGAGTGGGGAGAGGCGGGTGGAGACCTCGGCCAGGGTGTGCCTCCGGCCCGTGCTGCTGGGCAGGGACTCCTGCGTGTCCTGCTCCTCCTCTAGGCCCGGCCCCTGCCTGGCCTCCTCACTGATGGCTGTGTCCAGCAGGCTGCTTGGGGACACGGGCCGGGGCCGGAACACTCCGCTGCAGCTGGCATCCACCGGGAAGAACAAGGGCTGCGTTGGAGAGACACAAGCCAGTGACTTCTCGGACTCCAGGTGACCCGGGCACACCGGGGGCACCAGGGCTGGGCTGAGGCGAGCCCTCTGCACACCCGCTGTGGGCACTCACCCACTGCAGCGAGCTCTGGAGCTCACAGTCCATCTCGGCCTGGAGGACGGACTGCACCAAGGTCTGCGGCTGCGGGCACAGCAAGGCAGGTCGGAAAGGGTCGGTGGAAAGACCTTCCTGAGGCACCTGGGGCCGGCAGACGGGAAAGACGCTGTCAGGGGAGCGACTCCGGACCACCAGCGCCATCAAGAGAAGAAACAAGCTGGCTTCTGTCTGGAGTGCAAGCTGCCTCGCTGGTGGGCATGACAGCTGACGGAGGGACACTGGCTGGCCAGGCTGGGCTCAGGACCAGGTGCTGGTGCTGCGCT
Task1_train_28436
This variant affects the gene SIK1 (salt inducible kinase 1) found on Chromosome 21. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Developmental and epileptic encephalopathy, 30
GGAAGCTGACAGGGAGCAGAACAGCTCCTCCCAAGCCCCCCTGAGCCTGCAGCACTGGGGTGGCGGACTGCGACCCCAGGAAGGGCGAGGCCAGCCTGACCGGGGAGCAGGCGCCCAGCAGCCCCTGAGTGGCCGGGGTGCCACTGAGCCCCGCGGGGCTTTTGCTCGCAGAGAAGGTCAGACAACTGTCAGAGCTGGTTCCCTCTGCAGGACTTGCCGTGGTGGAGGGGGAGACGACTATACCTGTGGGGGGAGGACAGCGCTTTTGATGCTGCAGTGCAAAGGAATAGGCTCCCCCGGCCACTGCTGGGCACACATGGCTGCGCTGGCCTCCCCATCCCCACCATCAACCTGGTGGGAAGAGGGCTCGAGGCCACCAGAGCCCAGGGAGCCACAAAGGCAAGCCACCATCACGGTGCAGCTGCAGGGGGCAGGTCATAGTGGGCCTCAGGCCAAGGGGCTGCCCTCCCGGCACCCAGGGGCGGCCTGGGGAGGACCCTGCTGGAGGCCAGACCCCATGCTGTATCCTCCACTGGAACGACCACATGCAGGGCAGGCTCTAAACATCAACTGTGTGGTCTCAGGGATTAAAACAAATGGCAAATCCTGAGAAGTCCAACCTGAGAGGCTGCCGGGCAAAACGTCCATTCTAAATTAGCCCACCCTCACGTCGACCGTAAGCCTATCCACCGGTGTCCTCCTGGGCCCCCGGGGACACTTACATGGCGCGGTGAGTGGGGAGAGGCGGGTGGAGACCTCGGCCAGGGTGTGCCTCCGGCCCGTGCTGCTGGGCAGGGACTCCTGCGTGTCCTGCTCCTCCTCTAGGCCCGGCCCCTGCCTGGCCTCCTCACTGATGGCTGTGTCCAGCAGGCTGCTTGGGGACACGGGCCGGGGCCGGAACACTCCGCTGCAGCTGGCATCCACCGGGAAGAACAAGGGCTGCGTTGGAGAGACACAAGCCAGTGACTTCTCGGACTCCAGGTGACCCGGGCACACCGGGGGCACCAGGGCTGGGCTGAGGCGAGCCCTCTGCACACCCGCTGTGGGCACTCACCCACTGCAGCGAGCTCTGGAGCTCACAGTCCATCTCGGCCTGGAGGACGGACTGCACCAAGGTCTGCGGCTGCGGGCACAGCAAGGCAGGTCGGAAAGGGTCGGTGGAAAGACCTTCCTGAGGCACCTGGGGCCGGCAGACGGGAAAGACGCTGTCAGGGGAGCGACTCCGGACCACCAGCGCCATCAAGAGAAGAAACAAGCTGGCTTCTGTCTGGAGTGCAAGCTGCCTCGCTGGTGGGCATGACAGCTGACGGAGGGACACTGGCTGGCCAGGCTGGGCTCAGGACCAGGTGCTGGTGCTGCGCTGCCAGAAGGTGGCGTGACAGGCCGGCCCCAGGGATGAGTCAGGGACAAGTGGCCTCTGGGCAGAGTCCAGCCCCCAGCAGCTGGCACCCCCTTCCCCACGAGGCCTGGGACCCACTGCCCACGCAAGGAACCGCCCTCCAAGCCGGTGCCTGACAGGGGAGGGAGCCTGGGGCCTGGGAGGAGACTCCTCCCCCTCACCTCCAAACCACTGAGGTCCGAGCTCCGAGGCCGCGGCTGCCTGGCAGGCCCGGGGCGGGCGCACTGGGCATTCCGATACTCCTTGAGCCGCTCAAGGAGGAGGTAATAAATGGCAGCAAAGTGGTTATAGCTGCTGTTTTGCAGTGACTGGGAACAAGAGGAGCAGAGATCAGCATGGGGATGGCGGGGAGCCCCAGGGCCCACCCGATCCCAGGTTATTCTTGGGTGACTGAGAATATCCTTTAGTGGGGTGGACAAGCCGGCCCCTAAATTAGCCTGTGCTCCCGTTTTAACTCAGCTGGTGAGTGCCTGCTTCCCCTGAGACAGCTGCCTAGCCCCTGCGGGTGAGGCCAGGGCAAGTGTGGCCAGGCTCACCTCCACCGTCCTCTGCCGGTCCACGCCCAGGGTCTGCATGATACCCAGCGCCTGCTCATCGTAGTCGCCCAGGTTGGAGGTGTAGCTGTGTGCGGAGAAGGCGGGGCAGGCGGGTCCCGGCAAGCAGGGCTCAGCCCGCATCCACCGGTGCTGCCGGATCTGGGCGATGGTGATGCGCCTGGCGGGGTCCACCACCAGCATGCGGCGGATCAGGCTCTCACAGTCTGTGGAGGGGCCAGGAGGCTGAGCCAGGGCGGCCGGGACCTCGGCTGCGCTCCCACCCACCGCCCCACGTGGTTTGACACGCCAGGGCCCAGGAGCAGGGGCCGGGCCATCGGCTCAGTCCTGCCACCCAAGGGGAGCCATCAGCCAGGGATCCAGACCCTGGGGGCTGCCACACTTTGTGTCCACCACACAGAGAACCACTTAGGTTCACCCTTCTGCCGTGCCCCACACCTGAGCACCAGGTGGACAGGCATCTTTATGACACAGAAAAGCCGGGTGAGCCACAGCCAGTGGGTTGGACTCAGGGATGATGCCAGCACCCTGGGTGCGGGTACTGGGCGGGGACGGCAGGCGCAAGGCACAAGCCTGTGCAGCAAGGGCACCCGTCCACCCTCGAAATAGGGCACTGAGAAGGCATCCATGGGCTGGGTTTCTCCCGCAGCCCACAGTAACCTGGGCCTGATTCCCAGACTCAACAAGGACTCAGAAGCCAGCCACGAAGGGGCTGCAGGAGACACAGGCCCCTGCCCAGGCGAGACCACACGACTCACCTTGAGACATGAAGAAGGGGATGCGGAAGCGGCCCTCCAGCACCCGCTGTCTCAGCGTCGGCAGGTTAGGCCCATCGAAGGGGAGAGAACCGCAGACCAGGACGTACAGCACCACGCCCAGGCTCTGTTGAGGACCACAGAGCCACATCAGCGCCAGGGCGGTGCCCCCGGGAACACGGCGCCCTCGGGGAACGCGGCCTCGGGAAGGGGGTCTGCGCGCACAGGGCTCCTACCCAGATGTCCAGCTGGGGGCCTTCATACTCCTTCCCCTCAAAGACTTCCGGGGCGGCATACGGGGGGCTCCCACACCACGTGGACAGAGGCTCTCCTGACTTGTAGAAATTCCCAAATCCAAAATCTGAGCGGCAAAGAAACAGATGGATGAGGTTAAACGGCAAATGGCAAGGGGCTGCGGTTTCGGCACAGGGGCTGTGGTTTCGGCACATGCCGGGAAGCTGGGGCTGCTTGCGGGCACACTCCCACCCCGGGGCCTCCGTGCCTGCCAGCTTGATGTCCCTGCTCCCACCCCGGACCCTCCGTGCCTGCCAGCTTGATGTCCCTGCTCCCACCCCAGACCCTCCGTGCCTGCCAGCTTGATGTCCCTGCTCCCACCCCGGACCCTCCGTGCCTGCCAGCTTGATGTCCATGTTGCCATCCAGCAGGAGGTTCTCGGTCTTGAGGTCCCGGTGGACGATGTGATGGTCGTGACAGTACTCCACGGCCGACAGGATTTGCCAGAACTTCTTCCGCGCCTCGTTCTCACTCAGGTGCCCGTTGGAAGTCAAATAATCTGAGGAGCCACAAAACAAAGCTACAGCCCCCAGGGCAAAGCCTGCCCACCACCCATGGAGCCCTGGGGAACACCGCGGGGTCCTGGGATGTGTGGCCCAGACACTGGCCGCGCAAATCCAGACGCGTTCGTGCCATTGGTTTTCAACAGATACTGAAAACGAGTGTGGCTTACCAAACATTTCTCCATTTTTAGCAAATTCAGTGACGATGTAAAGCATGTCCTTTGTTTCCATAACCTAAAGAAGAAAGACCTGACATTTAACCGCACAAAAAAGGCACAAGGCAGCGCTACAAACCATCCACCAGAACCCCAGGAAATTTCTAACTTCTCTAGGACAAAGGCATTCATCATTTAAAAATGCAAAGAAAAAGAAAAATTTCTCAAATAAAAAAAAAATAGGAGATTCCTACTCACAAAGACAGCTTTGAAAAATCAGAGGTGAATTCCTCACTGACTTGCCTATCCTGATACACCTTTGCTCTCACAAAAGGTCTAAATATATTAGAATTCCCCTCTGTGGTCATATTTAATTCAAGACACCTCACATACAATTTGAGAATGCTTAGGCCGGGGCATGGTGGCTCACGCCCTG
GGAAGCTGACAGGGAGCAGAACAGCTCCTCCCAAGCCCCCCTGAGCCTGCAGCACTGGGGTGGCGGACTGCGACCCCAGGAAGGGCGAGGCCAGCCTGACCGGGGAGCAGGCGCCCAGCAGCCCCTGAGTGGCCGGGGTGCCACTGAGCCCCGCGGGGCTTTTGCTCGCAGAGAAGGTCAGACAACTGTCAGAGCTGGTTCCCTCTGCAGGACTTGCCGTGGTGGAGGGGGAGACGACTATACCTGTGGGGGGAGGACAGCGCTTTTGATGCTGCAGTGCAAAGGAATAGGCTCCCCCGGCCACTGCTGGGCACACATGGCTGCGCTGGCCTCCCCATCCCCACCATCAACCTGGTGGGAAGAGGGCTCGAGGCCACCAGAGCCCAGGGAGCCACAAAGGCAAGCCACCATCACGGTGCAGCTGCAGGGGGCAGGTCATAGTGGGCCTCAGGCCAAGGGGCTGCCCTCCCGGCACCCAGGGGCGGCCTGGGGAGGACCCTGCTGGAGGCCAGACCCCATGCTGTATCCTCCACTGGAACGACCACATGCAGGGCAGGCTCTAAACATCAACTGTGTGGTCTCAGGGATTAAAACAAATGGCAAATCCTGAGAAGTCCAACCTGAGAGGCTGCCGGGCAAAACGTCCATTCTAAATTAGCCCACCCTCACGTCGACCGTAAGCCTATCCACCGGTGTCCTCCTGGGCCCCCGGGGACACTTACATGGCGCGGTGAGTGGGGAGAGGCGGGTGGAGACCTCGGCCAGGGTGTGCCTCCGGCCCGTGCTGCTGGGCAGGGACTCCTGCGTGTCCTGCTCCTCCTCTAGGCCCGGCCCCTGCCTGGCCTCCTCACTGATGGCTGTGTCCAGCAGGCTGCTTGGGGACACGGGCCGGGGCCGGAACACTCCGCTGCAGCTGGCATCCACCGGGAAGAACAAGGGCTGCGTTGGAGAGACACAAGCCAGTGACTTCTCGGACTCCAGGTGACCCGGGCACACCGGGGGCACCAGGGCTGGGCTGAGGCGAGCCCTCTGCACACCCGCTGTGGGCACTCACCCACTGCAGCGAGCTCTGGAGCTCACAGTCCATCTCGGCCTGGAGGACGGACTGCACCAAGGTCTGCGGCTGCGGGCACAGCAAGGCAGGTCGGAAAGGGTCGGTGGAAAGACCTTCCTGAGGCACCTGGGGCCGGCAGACGGGAAAGACGCTGTCAGGGGAGCGACTCCGGACCACCAGCGCCATCAAGAGAAGAAACAAGCTGGCTTCTGTCTGGAGTGCAAGCTGCCTCGCTGGTGGGCATGACAGCTGACGGAGGGACACTGGCTGGCCAGGCTGGGCTCAGGACCAGGTGCTGGTGCTGCGCTGCCAGAAGGTGGCGTGACAGGCCGGCCCCAGGGATGAGTCAGGGACAAGTGGCCTCTGGGCAGAGTCCAGCCCCCAGCAGCTGGCACCCCCTTCCCCACGAGGCCTGGGACCCACTGCCCACGCAAGGAACCGCCCTCCAAGCCGGTGCCTGACAGGGGAGGGAGCCTGGGGCCTGGGAGGAGACTCCTCCCCCTCACCTCCAAACCACTGAGGTCCGAGCTCCGAGGCCGCGGCTGCCTGGCAGGCCCGGGGCGGGCGCACTGGGCATTCCGATACTCCTTGAGCCGCTCAAGGAGGAGGTAATAAATGGCAGCAAAGTGGTTATAGCTGCTGTTTTGCAGTGACTGGGAACAAGAGGAGCAGAGATCAGCATGGGGATGGCGGGGAGCCCCAGGGCCCACCCGATCCCAGGTTATTCTTGGGTGACTGAGAATATCCTTTAGTGGGGTGGACAAGCCGGCCCCTAAATTAGCCTGTGCTCCCGTTTTAACTCAGCTGGTGAGTGCCTGCTTCCCCTGAGACAGCTGCCTAGCCCCTGCGGGTGAGGCCAGGGCAAGTGTGGCCAGGCTCACCTCCACCGTCCTCTGCCGGTCCACGCCCAGGGTCTGCATGATACCCAGCGCCTGCTCATCGTAGTCGCCCAGGTTGGAGGTGTAGCTGTGTGCGGAGAAGGCGGGGCAGGCGGTTCCCGGCAAGCAGGGCTCAGCCCGCATCCACCGGTGCTGCCGGATCTGGGCGATGGTGATGCGCCTGGCGGGGTCCACCACCAGCATGCGGCGGATCAGGCTCTCACAGTCTGTGGAGGGGCCAGGAGGCTGAGCCAGGGCGGCCGGGACCTCGGCTGCGCTCCCACCCACCGCCCCACGTGGTTTGACACGCCAGGGCCCAGGAGCAGGGGCCGGGCCATCGGCTCAGTCCTGCCACCCAAGGGGAGCCATCAGCCAGGGATCCAGACCCTGGGGGCTGCCACACTTTGTGTCCACCACACAGAGAACCACTTAGGTTCACCCTTCTGCCGTGCCCCACACCTGAGCACCAGGTGGACAGGCATCTTTATGACACAGAAAAGCCGGGTGAGCCACAGCCAGTGGGTTGGACTCAGGGATGATGCCAGCACCCTGGGTGCGGGTACTGGGCGGGGACGGCAGGCGCAAGGCACAAGCCTGTGCAGCAAGGGCACCCGTCCACCCTCGAAATAGGGCACTGAGAAGGCATCCATGGGCTGGGTTTCTCCCGCAGCCCACAGTAACCTGGGCCTGATTCCCAGACTCAACAAGGACTCAGAAGCCAGCCACGAAGGGGCTGCAGGAGACACAGGCCCCTGCCCAGGCGAGACCACACGACTCACCTTGAGACATGAAGAAGGGGATGCGGAAGCGGCCCTCCAGCACCCGCTGTCTCAGCGTCGGCAGGTTAGGCCCATCGAAGGGGAGAGAACCGCAGACCAGGACGTACAGCACCACGCCCAGGCTCTGTTGAGGACCACAGAGCCACATCAGCGCCAGGGCGGTGCCCCCGGGAACACGGCGCCCTCGGGGAACGCGGCCTCGGGAAGGGGGTCTGCGCGCACAGGGCTCCTACCCAGATGTCCAGCTGGGGGCCTTCATACTCCTTCCCCTCAAAGACTTCCGGGGCGGCATACGGGGGGCTCCCACACCACGTGGACAGAGGCTCTCCTGACTTGTAGAAATTCCCAAATCCAAAATCTGAGCGGCAAAGAAACAGATGGATGAGGTTAAACGGCAAATGGCAAGGGGCTGCGGTTTCGGCACAGGGGCTGTGGTTTCGGCACATGCCGGGAAGCTGGGGCTGCTTGCGGGCACACTCCCACCCCGGGGCCTCCGTGCCTGCCAGCTTGATGTCCCTGCTCCCACCCCGGACCCTCCGTGCCTGCCAGCTTGATGTCCCTGCTCCCACCCCAGACCCTCCGTGCCTGCCAGCTTGATGTCCCTGCTCCCACCCCGGACCCTCCGTGCCTGCCAGCTTGATGTCCATGTTGCCATCCAGCAGGAGGTTCTCGGTCTTGAGGTCCCGGTGGACGATGTGATGGTCGTGACAGTACTCCACGGCCGACAGGATTTGCCAGAACTTCTTCCGCGCCTCGTTCTCACTCAGGTGCCCGTTGGAAGTCAAATAATCTGAGGAGCCACAAAACAAAGCTACAGCCCCCAGGGCAAAGCCTGCCCACCACCCATGGAGCCCTGGGGAACACCGCGGGGTCCTGGGATGTGTGGCCCAGACACTGGCCGCGCAAATCCAGACGCGTTCGTGCCATTGGTTTTCAACAGATACTGAAAACGAGTGTGGCTTACCAAACATTTCTCCATTTTTAGCAAATTCAGTGACGATGTAAAGCATGTCCTTTGTTTCCATAACCTAAAGAAGAAAGACCTGACATTTAACCGCACAAAAAAGGCACAAGGCAGCGCTACAAACCATCCACCAGAACCCCAGGAAATTTCTAACTTCTCTAGGACAAAGGCATTCATCATTTAAAAATGCAAAGAAAAAGAAAAATTTCTCAAATAAAAAAAAAATAGGAGATTCCTACTCACAAAGACAGCTTTGAAAAATCAGAGGTGAATTCCTCACTGACTTGCCTATCCTGATACACCTTTGCTCTCACAAAAGGTCTAAATATATTAGAATTCCCCTCTGTGGTCATATTTAATTCAAGACACCTCACATACAATTTGAGAATGCTTAGGCCGGGGCATGGTGGCTCACGCCCTG
Task1_train_28437
This mutation occurs in HSF2BP (heat shock transcription factor 2 binding protein) on Chromosome 21. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Premature ovarian failure 19
CCTTATTGCTGATATGGAGAAAGCCCAAGTATTCTAGACAGAAGATCAAAAATCATCAAAAATCCCTTAAGCCAAAGCCTAATTCAGAGAAAAGCCCCAATGCTCTTCAATTCTGTGAAGGCTGACAGGGGTAAGGAAGCTGCAGAAGAAAAGCTGGAAGCTAGTACAGGTTGCTTCATGAGGTTTAAGGAAAGAAGTTGTCTCCATAACATAAAAACAACGTGCAGCAGCAAGTGCTGATGGAGAAGCTGCAGCAAGTTATCCAGAAGATCTAGCTAAGATCACTGCCGAGGGTGGTTACACTAAACAAGAGATTTTCAATGTAGACAAAGTCGCTTTCTATTGGAAGAAGACGCCATCTAGGACTTTCACCGCTAGAGAAAAGTCAATGCCTGGCTTCAAAGCATCAAAAGACAGGCTGACTCTCTTGTTAGGGGCCAATGGTGCGGGTGACTTTAATTGAAGCCAATGCTCATTTAACCATTCTGAAAATCCTAGAGCCCTTAAGAATTATGCTAAATCTACTCTTGCCTATGCTCTAGAAATAGAAAAACAAAGCCTGGATGACAGCACACCTGTTTCCAGCATGGTTTACTGAATATTTTCAGCCCACTGTTGAGACCTACTGCTCAGAAAAAAAGATTTCTTTCAAAACACTACTGTTCATTGACAATGCACCTGGTCAATCAAGAGCCATGATGGAGAGGTACAAGGAAAGTAATGTTGACTCCATGCCTGCTAATACAATACCTATTCTTCAGCTCATATATCAAAAAGAAATTTCAACTTTCAAGTCCTATTTTTTTTAAGAACTACATTTCATAACGCTACAGCTGCCATAGACAGTGATTCCTCTGATGGATCTGGGTGAAGTAAACTGAAAACCTTCTAAAAAGGATTCACCATTCTAGATGCCATTAAGAATATTCATGATTCAGCCAAGCGCAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTAAATACAGGATGTGGAGGCTGCAGTGAGCCGAGATCACGCCGTTGCACTCCAGCCTGGGCAACAAGAGAATATTCATGATTCATGGGAGGAGGTCAAAATAACAACATTAACAGGAGTTCGGAAGAAGTTGATTTCAATCCTCATGGATGACTTTGAAGGGTTCATGACTTCAGTGGAGTAAGTAACTACAGACGTGGTGGCAGAAAAAAAGGATAAGTTGCTTCTTATGGAAGAACAAAGAAAGTGGTTTCTTGAGATGGAATCTACTCTTGGTGAAGATGCTAAGACATTGTTGAAATAAGAACAAGAGATTCAGAATATTACATAAACTTAGTTGACAAAGCAGCAGTAAGGTTTGAGAGGGCTGACTCCAATTTTGAAAGATGTTCTACTGTGGAAAAAATGCTATCAAACAGCATCACATGCTACTGAGAAATCTTACATGAAAGGAAGAATTAATCAATGTGGCAAACTTCATTGTTCCTTATTTTAAGAAATTGGCACAGCCACCCCAACCTTCAGTAACTACCACCCTGATCAGTTAGCAGTCATCAATATCACGGCAAGACCCTCTACCAGCAAAAAATTGTAACTTGCTGAAGGCTCAGATGATCATTAGCATTTTTAGCAATAATGAATTTTCTAATTAAAGTTTGTACATTTTTTAGACATAATGCTATTGTACATACAACAGACTACAGTATAGTGTAAACATAATTTGTATATGCACTGGGAAACCAAAAACATTCATGTGACTCATGTATTATTGCAGTATTTGCTTTACTGCAGTGGTCTGGAAGCAAACAGGCAACATCTCTCAGGTGCGCCTGCACTTACTCGTGACAATTCCAGCCAGAGCGAAAACAAACTGACTTTCATCCGAATCCAGCTCCTGGACATCACCGTCTAACGACTTCACAAAACTCTCCATTGTTTGACCAGTGATGCTGAAAAACTTCAAAGCTTTATCCTGAAAGTTTGAAAATCAGAGTGTCATATCTTTTTACAGACACTAGTGTGAAAACATTTTAAAAGTGCAGGATACAGAAGATTCTAGTTTTAATTGTAGAATATTGTAAAATCTATTCCCTCATTAAAAGTTCCCATTAAAAGAACAGAGAAAGCAGCTTGAGGCATGCAGGAGCAACAAAAACTACCCTGAAGATTGGTGGACTCTTCACACGCATAAATATGATATAGGACAAATGTACATGATGATGAAAGTAAATGGGAAGAATTCACTCAAAATGTAATAAAAATATACTAGAAAAACATGCTGCCTATTTGCTCTGGGCATTAAACCAGAGGTGTTCAAACCTTTAGCATAACTTTTTTCAAAAAAAAAAATCTTAATGAAAACATGTAAAAGAGGTAAAGACTGGCTCCTCTGGTAGTTTAAATCTTCATCACTTGGCAAAAAGCATTTCCAAGTTTGAACCTTTGAGTTACTTCCTTTGGGGTGCTAGAGTTCTGAAGAAGAATTTTAAAACCAATGTACATTTTAACCCAGTTAAAAAATTGGAAATATTTGCATTTACAAATGATATAAGAAAACTTCATGGATGATCAAATAATCTAAAACTGGGTTGTGGTGATGGTTAATGCAACTCTAAAAATTTGCTAAAAACCACTAAATTGTACATTTACAATCTTACAGTATGTAAATTAAACCTAATAAAGCTCAACAAACTTTTAAAAACACATTTAGTCTTTCCACCTAAAGTCAAACACAACTGTTATTTCTATTAGCAGTAACTAATTTCTCACTGGTTTCCTGCCACACGTCCCCCTCTTCACCTTCATTTCCAGTCATGATCACGCCATGCTCCCAGAGTCAAACACCGATCTTTTTTGGCTCCTCTTGTCCCCTCCAGGTGCCCACTCTGCCCGGCCATCGCATCTGCCTCAACTGCCACAGCTCTCATACATGTTCCTTCTTTCCCATCTCCCCTGCAGAGGGCCGAGCTCACTCCAGCCAGACCAGCTAGAATGACCACCTCATCAGTCATCCTGTGTAGACGCGATGTGCCACAACTCCACCTCCTAATCCATCCTCACCCACTGTCAGGTGAATCTTTCTAAAATTCTGCTCTTATCCTATCACTTTTATTGAAAAACCCTTAGGGAAAATCCAGTCTTCCCACCTACAGAATGAATCACCAACCTGGTATTCAAGGTCCCAAAGTCACATCCCAACCTACGTTTAAGCTTTACCTCCCCACTACTCTATGACATTAACTCTCCACTGTGTCAACTGACCTACTCACTGTCCTAAAACAAACCCACCCATTTTCTGCCATTTCTACCTATTCATCAAGGCCCATTTCAAATTTATCCCCTTCTGTGAAGTTCCCTGACAAATGCCTGCACGCATGCATACATGTGCGTGTGCACGCTCCCACACACACACATGCTCCCACACACCCACACGCTCCCACACACACGATCCCACATACACAGGCTCACAGGCACACACACTCCCCCCCCACACACGCTCCCCACACACACACTCCCACACACACAGGCTCCCACATACACACACATGCTCCCACACACACACACGCTCCCCCCCCACACACGCTCCCACATACACACGCTCCCACACACACACACGCTCTCCCCACACACACGCTCCCCCAAACACACACACGCTCCCACACACACACTCACACAGTCTCACACACACACGCTCCCCCACACACACACATGCTCCCCCACACAAACACACATACGATCCCACATACACAGGCTCACACACACACACACACACTCCCCCACACACACGCTCCCCCCACACACACACACAGGCTCCCACATACACACACACGCTCCCACACACACACTCCCCCACACACACATGCTCCCATACACACACGCTCCCACACACACACGCTCCCCCCCCACACACACACACTCCCCCACACACACATGCTCCCACACACACACACAGTCACACACA
CCTTATTGCTGATATGGAGAAAGCCCAAGTATTCTAGACAGAAGATCAAAAATCATCAAAAATCCCTTAAGCCAAAGCCTAATTCAGAGAAAAGCCCCAATGCTCTTCAATTCTGTGAAGGCTGACAGGGGTAAGGAAGCTGCAGAAGAAAAGCTGGAAGCTAGTACAGGTTGCTTCATGAGGTTTAAGGAAAGAAGTTGTCTCCATAACATAAAAACAACGTGCAGCAGCAAGTGCTGATGGAGAAGCTGCAGCAAGTTATCCAGAAGATCTAGCTAAGATCACTGCCGAGGGTGGTTACACTAAACAAGAGATTTTCAATGTAGACAAAGTCGCTTTCTATTGGAAGAAGACGCCATCTAGGACTTTCACCGCTAGAGAAAAGTCAATGCCTGGCTTCAAAGCATCAAAAGACAGGCTGACTCTCTTGTTAGGGGCCAATGGTGCGGGTGACTTTAATTGAAGCCAATGCTCATTTAACCATTCTGAAAATCCTAGAGCCCTTAAGAATTATGCTAAATCTACTCTTGCCTATGCTCTAGAAATAGAAAAACAAAGCCTGGATGACAGCACACCTGTTTCCAGCATGGTTTACTGAATATTTTCAGCCCACTGTTGAGACCTACTGCTCAGAAAAAAAGATTTCTTTCAAAACACTACTGTTCATTGACAATGCACCTGGTCAATCAAGAGCCATGATGGAGAGGTACAAGGAAAGTAATGTTGACTCCATGCCTGCTAATACAATACCTATTCTTCAGCTCATATATCAAAAAGAAATTTCAACTTTCAAGTCCTATTTTTTTTAAGAACTACATTTCATAACGCTACAGCTGCCATAGACAGTGATTCCTCTGATGGATCTGGGTGAAGTAAACTGAAAACCTTCTAAAAAGGATTCACCATTCTAGATGCCATTAAGAATATTCATGATTCAGCCAAGCGCAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTAAATACAGGATGTGGAGGCTGCAGTGAGCCGAGATCACGCCGTTGCACTCCAGCCTGGGCAACAAGAGAATATTCATGATTCATGGGAGGAGGTCAAAATAACAACATTAACAGGAGTTCGGAAGAAGTTGATTTCAATCCTCATGGATGACTTTGAAGGGTTCATGACTTCAGTGGAGTAAGTAACTACAGACGTGGTGGCAGAAAAAAAGGATAAGTTGCTTCTTATGGAAGAACAAAGAAAGTGGTTTCTTGAGATGGAATCTACTCTTGGTGAAGATGCTAAGACATTGTTGAAATAAGAACAAGAGATTCAGAATATTACATAAACTTAGTTGACAAAGCAGCAGTAAGGTTTGAGAGGGCTGACTCCAATTTTGAAAGATGTTCTACTGTGGAAAAAATGCTATCAAACAGCATCACATGCTACTGAGAAATCTTACATGAAAGGAAGAATTAATCAATGTGGCAAACTTCATTGTTCCTTATTTTAAGAAATTGGCACAGCCACCCCAACCTTCAGTAACTACCACCCTGATCAGTTAGCAGTCATCAATATCACGGCAAGACCCTCTACCAGCAAAAAATTGTAACTTGCTGAAGGCTCAGATGATCATTAGCATTTTTAGCAATAATGAATTTTCTAATTAAAGTTTGTACATTTTTTAGACATAATGCTATTGTACATACAACAGACTACAGTATAGTGTAAACATAATTTGTATATGCACTGGGAAACCAAAAACATTCATGTGACTCATGTATTATTGCAGTATTTGCTTTACTGCAGTGGTCTGGAAGCAAACAGGCAACATCTCTCAGGTGCGCCTGCACTTACTCGTGACAATTCCAGCCAGAGCGAAAACAAACTGACTTTCATCCGAATCCAGCTCCTGGACATCACCGTCTAACAACTTCACAAAACTCTCCATTGTTTGACCAGTGATGCTGAAAAACTTCAAAGCTTTATCCTGAAAGTTTGAAAATCAGAGTGTCATATCTTTTTACAGACACTAGTGTGAAAACATTTTAAAAGTGCAGGATACAGAAGATTCTAGTTTTAATTGTAGAATATTGTAAAATCTATTCCCTCATTAAAAGTTCCCATTAAAAGAACAGAGAAAGCAGCTTGAGGCATGCAGGAGCAACAAAAACTACCCTGAAGATTGGTGGACTCTTCACACGCATAAATATGATATAGGACAAATGTACATGATGATGAAAGTAAATGGGAAGAATTCACTCAAAATGTAATAAAAATATACTAGAAAAACATGCTGCCTATTTGCTCTGGGCATTAAACCAGAGGTGTTCAAACCTTTAGCATAACTTTTTTCAAAAAAAAAAATCTTAATGAAAACATGTAAAAGAGGTAAAGACTGGCTCCTCTGGTAGTTTAAATCTTCATCACTTGGCAAAAAGCATTTCCAAGTTTGAACCTTTGAGTTACTTCCTTTGGGGTGCTAGAGTTCTGAAGAAGAATTTTAAAACCAATGTACATTTTAACCCAGTTAAAAAATTGGAAATATTTGCATTTACAAATGATATAAGAAAACTTCATGGATGATCAAATAATCTAAAACTGGGTTGTGGTGATGGTTAATGCAACTCTAAAAATTTGCTAAAAACCACTAAATTGTACATTTACAATCTTACAGTATGTAAATTAAACCTAATAAAGCTCAACAAACTTTTAAAAACACATTTAGTCTTTCCACCTAAAGTCAAACACAACTGTTATTTCTATTAGCAGTAACTAATTTCTCACTGGTTTCCTGCCACACGTCCCCCTCTTCACCTTCATTTCCAGTCATGATCACGCCATGCTCCCAGAGTCAAACACCGATCTTTTTTGGCTCCTCTTGTCCCCTCCAGGTGCCCACTCTGCCCGGCCATCGCATCTGCCTCAACTGCCACAGCTCTCATACATGTTCCTTCTTTCCCATCTCCCCTGCAGAGGGCCGAGCTCACTCCAGCCAGACCAGCTAGAATGACCACCTCATCAGTCATCCTGTGTAGACGCGATGTGCCACAACTCCACCTCCTAATCCATCCTCACCCACTGTCAGGTGAATCTTTCTAAAATTCTGCTCTTATCCTATCACTTTTATTGAAAAACCCTTAGGGAAAATCCAGTCTTCCCACCTACAGAATGAATCACCAACCTGGTATTCAAGGTCCCAAAGTCACATCCCAACCTACGTTTAAGCTTTACCTCCCCACTACTCTATGACATTAACTCTCCACTGTGTCAACTGACCTACTCACTGTCCTAAAACAAACCCACCCATTTTCTGCCATTTCTACCTATTCATCAAGGCCCATTTCAAATTTATCCCCTTCTGTGAAGTTCCCTGACAAATGCCTGCACGCATGCATACATGTGCGTGTGCACGCTCCCACACACACACATGCTCCCACACACCCACACGCTCCCACACACACGATCCCACATACACAGGCTCACAGGCACACACACTCCCCCCCCACACACGCTCCCCACACACACACTCCCACACACACAGGCTCCCACATACACACACATGCTCCCACACACACACACGCTCCCCCCCCACACACGCTCCCACATACACACGCTCCCACACACACACACGCTCTCCCCACACACACGCTCCCCCAAACACACACACGCTCCCACACACACACTCACACAGTCTCACACACACACGCTCCCCCACACACACACATGCTCCCCCACACAAACACACATACGATCCCACATACACAGGCTCACACACACACACACACACTCCCCCACACACACGCTCCCCCCACACACACACACAGGCTCCCACATACACACACACGCTCCCACACACACACTCCCCCACACACACATGCTCCCATACACACACGCTCCCACACACACACGCTCCCCCCCCACACACACACACTCCCCCACACACACATGCTCCCACACACACACACAGTCACACACA
Task1_train_28438
The variant affects gene PDXK (pyridoxal kinase), which is on Chromosome 21. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy
AAACAAAACAGAACTTTGTTCCCCACAGTTCTGGAGGCTGGGAAGTCCAAGGTCAAGGCACTGGCAGGCTCAGGGTCTGGCGGGGGCTACTTTGCTACCCGGACTGCACCTTGTTGCTGCATCCTCATGTGTGGATGGCAGGGGGCTCGAGGGGCCCATGCTGCTCCCTCCAGCCCTCATCAGGCACAGAGAAAGGGGAGCCCTCATGACTTAATCATGCCCCAGAGGACCCCTTCTGAATATTGCCACATGGGTGCCATGTTTCAACATGCATTTTAGAGCAGACACTGTCAGACTGCAGCAGGAGTCCATGTGCTTTGGGCTGCGTTCCCAAGCAGCCTGGCGCTGCCCTGAATTTTGTCTTCACAACCCAGGAGCCTGGTCCTGAGAATGGGCCACTGCAGCAGCCACTCCTCCCACTCGGAGGCCTTTCGCTGACCTGGTATTGGGTCCTGGGACTGCAGAGTCAGCTGACCCTGGAGCAGGGTCCAGATTCTGCTATGGACACGTGCTGGGTGGCGATGCAGCACATGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGTGCTGCCCGATCTGAGGCAACCGTGCGGTGGAGACAGTTTCTACGAGAGTTACAGAAAAGCCAACGTACAGAGGGGCCAGCTCCTCCTCGCTGCAGGACAGGCACCCATCTGTCCACCCCCCAAGGGGGAGGCCCTCGCCAGTCACCTGTGGGGAGCCACACGGTTTGGGCTGACAGTTTGTGGGGGGATGGTGGCTGACCAGGTGGCTGTCTTCCCTCCGGGAGTGCCGCCATTGGGAACGGGCTCTGGGGGAGTGGGGTGTGACCGGCCGTGGCTGATGCTCCCCGTGCCACTGCCAGGTGATGGATCGGGGAGTGGGGTGTGACCAGCCGTGGCTGACATGTGACCGGCCGTGGCTGACGCTCCCTGTGCCACTGCTAGGTGATGGACATGCTGCACTCTATGGGCCCCGACACCGTGGTCATCACCAGCTCCGACCTGCCCTCCCCGCAGGGCAGCAACTACCTGATTGTGCTGGGGAGTCAGAGGAGGAGTAAGTGCCCCCATCGTGCACCGTGGCCGCCTCTGCTCTTCCCAGAGGAAGGTGTTCTTTGGGGCTGCAAGAATGTTTTGGGTTCAATAGCATGAAATTTAAGCCTTATCCAGCACCGGGATGACACCCCCATTTTACAGACTCTCAGGGATCAGGTGGGATTCCCAAGACCTCACAGGTCACGATGAATGGCCTGGCTGGAACTGGCTTCCACGGACCCAGCATCATAGGCCTCCCTCAGAGCCAGGCGGGGTCCCTGAGTTCACTGGGAGGACGCGTCCACCCGGCTGTGCTGATTGTTTACACAGACACCACCTGGTTGATTTTCTCTGAACAGTGTGAAAATGACGCAGAAGGCTGGGGCCATGCACTAAGCTAGTGGCCGCGGGTTCATACCCATGGGCCCAAAAGAACAGCTGTGACCTCCTTGCCGCTCTATGTTTGGACATGGGAGCCTTGCAGGCACACACATAGGCACAAATGCACATACACTTGGGCACAAATGCACATACGGGCACACACGTGGACATGGGCACACATAGGCATACATGCACACATACACACGGGCACACACAGGCATACATGCACACGGACACATGCATACACACGGACACACATGCATACACGTGGGCACACGCACACACATGCACACACACTCGGATGCGTCCAGGTACATCCTAGTTCTTCACGCCGTCGTTACTCTCGGGAGTTTCACAGCGACCCCCGAGGCGGCCTGACCGTGTGGCCCTCTGAGGGTGCAGTCTTTCCCTTTCCCTTGCTGCGGTGATGGGGACCCCATGCATGCCCTGAGCCCCCACGTCCTGAGCAAGGCCACCTTGTGCTCTGCCCCTGTGACCCTCCCTGCCGCCGTGCCCAGGAGGATCAGGGATGGGAGGCTGGCCCTGGCAGAGGAGCGGCAGATCTCAGTGACCTTGCCCATCTTCTCCCCCTAGGGAATCCCGCTGGCTCCGTGGTGATGGAACGCATCCGGATGGACATTCGCAAAGTGGACGCCGTCTTTGTGGGCACTGGGGACCTGTTTGCTGCCATGCTCCTGGCGTGGACACACAAGCACCCCAATAACCTCAAGGTCAGCCACACGCACCGCTCCCCTCCTCGCCCACTCCCACGGCACCTCATGGGGAGCAGGATATGAGAGTCCTGGTGGGGGGTCCCTGCTGAGCTGACAGGGCATGGCCCTGAGTGCTGGCCCCAGTTGTGGGGGAGGGCAGTGGCCAGGCCATGACAGGAGTTGCGCCTGTCACTCTCACATCGCCTCCCATCTCCCCTTATTTGGGACCTAGGGATGATCAGAGTCTGTGAGGGCTTGGGTGACAGATGTTTCAGAACAGACCCATGGGGGTCCCACCAGGATTCAGATGCCACCCGCTTGGCGTTGGCGCAGGGCTGTGGGATGCATGGAGCTGTTGTGTCCTTGGTGACTTGGGGGCTGCTGCAGAGGAGTGGCACCCTGCAGCATTTCCCACAGTGTGACCACGGCAGTGACCTGAGGGACGGAAAGGCCGGAGCCGCCCTTCGGGGACAGTAGGTGGGAGGCTGAGGACAGGGGTCCAGGCAGGTGTGGAGAGCCGTCTTTCTGGGCGTTTTGTCTGGATGTCTGCCTGCTTTTCAAGTTTGTAGAGATCGGGTGGCTTTGCTTAGACAGTGGGGGGAGTGGGACTGTTGGGCAACTGACATGGCAGGTTGGGATGTGGGGTCTCGTGAGCCTTTCTCGTGTGTCCCATGGGTAAGCACACAGCTCAGCGGGGACAGAGGAGTTTTGTTGCAACTGTGGCGCTCAGATCCGTGACCTCCCGTGCTGCATGCAGCAGAGTTGCTTGTGGCCTCGGCAGGTGGTTTTGTCAGCTGAGTCCGAGGACGCCTGGAGTGTGTCTTCTTACAACACCGTCCAGAGCCGTGCTGTGCTCTGAGGTGGTCCCCAGCCCCTGGGCTCAGCCCCCAAAACTCCCCTGGGTACTTCCCACTGCGTCCGCAGTGGGTTCAGGTGGGAGGGAGGGGCCTGCCATCCCTTTGGAATGTGGGGCAGGGCAGGGGTGCCATGGGAGTGACAGGAGGAAGACAGGACACCTCTGTCACTATTGGGTGCGCTGGGGAAGGAAGAGTTCAGAGGTCAGGACCTGCAGGTGGCTCTCCCTGTGCTGTCTTTGCCGGGCCGCTTAAGGGGCCACGTGTCCCCCGGGGTACACCTCCTCCCCAACAAGTCAGTTTCAGCTGAGTGTCCTGGTGTGTAAAATGGAAGAGGTGGACTGAGGCCCTTTGCCTCCCATGGGACTAGCCCTCTGCACACCCTGAGCTGGAATGCACAGCCCCCTCATTCCATCCCTTCTGGCCCCTCAAGGGCAATTAAACAGGGCCATTAAGTAAGCCTGCCGTGTTTAATTGGTGGTGCAGGGCAGTGGAAAAGTGCCAGCTGGCACCCCGAGGAGGCCTCACTGCCAGGCCGCCCAAGGTCACATTCTGGGTTTGGCCAGCCCAGGGTTGTGGAGTCGGGGAGCGAGTTCCCCGTGCTTCCCCAGCACCTTTGACTCTGAGGCATCACTGAGTGATGATTGGCTGACTCTGAGGCATCACTGAGTGATGATTGGCTGACTCTGAGGCATCACTGAGTGATGATTGGCTGACTCTGAGGCATCACTGAGTGATGATTGGCTGACTCTGAGGCATCACTGAGTGATGATTGGCTGGGCTTTCGGCAGGAGCACTTCCCCTTGTAGACTCGTTATAAGGAGTTAATTCTGGGAACTCCTACCAAGCTCCTGCTGCCTGCCAAGTTCTATGCAGGTCACGAGGCTGTCCCTTCTGTGAGCCATCTCTTGTCCAGAGCAGGTAGCTGGGACCGGGCATCTGCTCAGCCCTCCGGGCTCTCCGTGGTGGGCAGTCCGCAGCCTGTCCTCCAGGGTTCAGCACGTGCATTGGCGGAGCCGGCTCCCCGGTGGCTCGGAGAGCAGGACGGCCCTTGTGTTCCCTGGAAATCCCCTCCTGGCAGCAGTGGGCACGTCGGGTGTTGTGAGTGGGC
AAACAAAACAGAACTTTGTTCCCCACAGTTCTGGAGGCTGGGAAGTCCAAGGTCAAGGCACTGGCAGGCTCAGGGTCTGGCGGGGGCTACTTTGCTACCCGGACTGCACCTTGTTGCTGCATCCTCATGTGTGGATGGCAGGGGGCTCGAGGGGCCCATGCTGCTCCCTCCAGCCCTCATCAGGCACAGAGAAAGGGGAGCCCTCATGACTTAATCATGCCCCAGAGGACCCCTTCTGAATATTGCCACATGGGTGCCATGTTTCAACATGCATTTTAGAGCAGACACTGTCAGACTGCAGCAGGAGTCCATGTGCTTTGGGCTGCGTTCCCAAGCAGCCTGGCGCTGCCCTGAATTTTGTCTTCACAACCCAGGAGCCTGGTCCTGAGAATGGGCCACTGCAGCAGCCACTCCTCCCACTCGGAGGCCTTTCGCTGACCTGGTATTGGGTCCTGGGACTGCAGAGTCAGCTGACCCTGGAGCAGGGTCCAGATTCTGCTATGGACACGTGCTGGGTGGCGATGCAGCACATGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGTGCTGCCCGATCTGAGGCAACCGTGCGGTGGAGACAGTTTCTACGAGAGTTACAGAAAAGCCAACGTACAGAGGGGCCAGCTCCTCCTCGCTGCAGGACAGGCACCCATCTGTCCACCCCCCAAGGGGGAGGCCCTCGCCAGTCACCTGTGGGGAGCCACACGGTTTGGGCTGACAGTTTGTGGGGGGATGGTGGCTGACCAGGTGGCTGTCTTCCCTCCGGGAGTGCCGCCATTGGGAACGGGCTCTGGGGGAGTGGGGTGTGACCGGCCGTGGCTGATGCTCCCCGTGCCACTGCCAGGTGATGGATCGGGGAGTGGGGTGTGACCAGCCGTGGCTGACATGTGACCGGCCGTGGCTGACGCTCCCTGTGCCACTGCTAGGTGATGGACATGCTGCACTCTATGGGCCCCGACACCGTGGTCATCACCAGCTCCGACCTGCCCTCCCCGCAGGGCAGCAACTACCTGATTGTGCTGGGGAGTCAGAGGAGGAGTAAGTGCCCCCATCGTGCACCGTGGCCGCCTCTGCTCTTCCCAGAGGAAGGTGTTCTTTGGGGCTGCAAGAATGTTTTGGGTTCAATAGCATGAAATTTAAGCCTTATCCAGCACCGGGATGACACCCCCATTTTACAGACTCTCAGGGATCAGGTGGGATTCCCAAGACCTCACAGGTCACGATGAATGGCCTGGCTGGAACTGGCTTCCACGGACCCAGCATCATAGGCCTCCCTCAGAGCCAGGCGGGGTCCCTGAGTTCACTGGGAGGACGCGTCCACCCGGCTGTGCTGATTGTTTACACAGACACCACCTGGTTGATTTTCTCTGAACAGTGTGAAAATGACGCAGAAGGCTGGGGCCATGCACTAAGCTAGTGGCCGCGGGTTCATACCCATGGGCCCAAAAGAACAGCTGTGACCTCCTTGCCGCTCTATGTTTGGACATGGGAGCCTTGCAGGCACACACATAGGCACAAATGCACATACACTTGGGCACAAATGCACATACGGGCACACACGTGGACATGGGCACACATAGGCATACATGCACACATACACACGGGCACACACAGGCATACATGCACACGGACACATGCATACACACGGACACACATGCATACACGTGGGCACACGCACACACATGCACACACACTCGGATGCGTCCAGGTACATCCTAGTTCTTCACGCCGTCGTTACTCTCGGGAGTTTCACAGCGACCCCCGAGGCGGCCTGACCGTGTGGCCCTCTGAGGGTGCAGTCTTTCCCTTTCCCTTGCTGCGGTGATGGGGACCCCATGCATGCCCTGAGCCCCCACGTCCTGAGCAAGGCCACCTTGTGCTCTGCCCCTGTGACCCTCCCTGCCGCCGTGCCCAGGAGGATCAGGGATGGGAGGCTGGCCCTGGCAGAGGAGCGGCAGATCTCAGTGACCTTGCCCATCTTCTCCCCCTAGGGAATCCCGCTGGCTCCGTGGTGATGGAACGCATCCAGATGGACATTCGCAAAGTGGACGCCGTCTTTGTGGGCACTGGGGACCTGTTTGCTGCCATGCTCCTGGCGTGGACACACAAGCACCCCAATAACCTCAAGGTCAGCCACACGCACCGCTCCCCTCCTCGCCCACTCCCACGGCACCTCATGGGGAGCAGGATATGAGAGTCCTGGTGGGGGGTCCCTGCTGAGCTGACAGGGCATGGCCCTGAGTGCTGGCCCCAGTTGTGGGGGAGGGCAGTGGCCAGGCCATGACAGGAGTTGCGCCTGTCACTCTCACATCGCCTCCCATCTCCCCTTATTTGGGACCTAGGGATGATCAGAGTCTGTGAGGGCTTGGGTGACAGATGTTTCAGAACAGACCCATGGGGGTCCCACCAGGATTCAGATGCCACCCGCTTGGCGTTGGCGCAGGGCTGTGGGATGCATGGAGCTGTTGTGTCCTTGGTGACTTGGGGGCTGCTGCAGAGGAGTGGCACCCTGCAGCATTTCCCACAGTGTGACCACGGCAGTGACCTGAGGGACGGAAAGGCCGGAGCCGCCCTTCGGGGACAGTAGGTGGGAGGCTGAGGACAGGGGTCCAGGCAGGTGTGGAGAGCCGTCTTTCTGGGCGTTTTGTCTGGATGTCTGCCTGCTTTTCAAGTTTGTAGAGATCGGGTGGCTTTGCTTAGACAGTGGGGGGAGTGGGACTGTTGGGCAACTGACATGGCAGGTTGGGATGTGGGGTCTCGTGAGCCTTTCTCGTGTGTCCCATGGGTAAGCACACAGCTCAGCGGGGACAGAGGAGTTTTGTTGCAACTGTGGCGCTCAGATCCGTGACCTCCCGTGCTGCATGCAGCAGAGTTGCTTGTGGCCTCGGCAGGTGGTTTTGTCAGCTGAGTCCGAGGACGCCTGGAGTGTGTCTTCTTACAACACCGTCCAGAGCCGTGCTGTGCTCTGAGGTGGTCCCCAGCCCCTGGGCTCAGCCCCCAAAACTCCCCTGGGTACTTCCCACTGCGTCCGCAGTGGGTTCAGGTGGGAGGGAGGGGCCTGCCATCCCTTTGGAATGTGGGGCAGGGCAGGGGTGCCATGGGAGTGACAGGAGGAAGACAGGACACCTCTGTCACTATTGGGTGCGCTGGGGAAGGAAGAGTTCAGAGGTCAGGACCTGCAGGTGGCTCTCCCTGTGCTGTCTTTGCCGGGCCGCTTAAGGGGCCACGTGTCCCCCGGGGTACACCTCCTCCCCAACAAGTCAGTTTCAGCTGAGTGTCCTGGTGTGTAAAATGGAAGAGGTGGACTGAGGCCCTTTGCCTCCCATGGGACTAGCCCTCTGCACACCCTGAGCTGGAATGCACAGCCCCCTCATTCCATCCCTTCTGGCCCCTCAAGGGCAATTAAACAGGGCCATTAAGTAAGCCTGCCGTGTTTAATTGGTGGTGCAGGGCAGTGGAAAAGTGCCAGCTGGCACCCCGAGGAGGCCTCACTGCCAGGCCGCCCAAGGTCACATTCTGGGTTTGGCCAGCCCAGGGTTGTGGAGTCGGGGAGCGAGTTCCCCGTGCTTCCCCAGCACCTTTGACTCTGAGGCATCACTGAGTGATGATTGGCTGACTCTGAGGCATCACTGAGTGATGATTGGCTGACTCTGAGGCATCACTGAGTGATGATTGGCTGACTCTGAGGCATCACTGAGTGATGATTGGCTGACTCTGAGGCATCACTGAGTGATGATTGGCTGGGCTTTCGGCAGGAGCACTTCCCCTTGTAGACTCGTTATAAGGAGTTAATTCTGGGAACTCCTACCAAGCTCCTGCTGCCTGCCAAGTTCTATGCAGGTCACGAGGCTGTCCCTTCTGTGAGCCATCTCTTGTCCAGAGCAGGTAGCTGGGACCGGGCATCTGCTCAGCCCTCCGGGCTCTCCGTGGTGGGCAGTCCGCAGCCTGTCCTCCAGGGTTCAGCACGTGCATTGGCGGAGCCGGCTCCCCGGTGGCTCGGAGAGCAGGACGGCCCTTGTGTTCCCTGGAAATCCCCTCCTGGCAGCAGTGGGCACGTCGGGTGTTGTGAGTGGGC
Task1_train_28439
This gene mutation involves PDXK (pyridoxal kinase) on Chromosome 21. Is it associated with any clinical condition, or is it benign?
Pathogenic; PDXK-related disorder
CACAGTTCTGGAGGCTGGGAAGTCCAAGGTCAAGGCACTGGCAGGCTCAGGGTCTGGCGGGGGCTACTTTGCTACCCGGACTGCACCTTGTTGCTGCATCCTCATGTGTGGATGGCAGGGGGCTCGAGGGGCCCATGCTGCTCCCTCCAGCCCTCATCAGGCACAGAGAAAGGGGAGCCCTCATGACTTAATCATGCCCCAGAGGACCCCTTCTGAATATTGCCACATGGGTGCCATGTTTCAACATGCATTTTAGAGCAGACACTGTCAGACTGCAGCAGGAGTCCATGTGCTTTGGGCTGCGTTCCCAAGCAGCCTGGCGCTGCCCTGAATTTTGTCTTCACAACCCAGGAGCCTGGTCCTGAGAATGGGCCACTGCAGCAGCCACTCCTCCCACTCGGAGGCCTTTCGCTGACCTGGTATTGGGTCCTGGGACTGCAGAGTCAGCTGACCCTGGAGCAGGGTCCAGATTCTGCTATGGACACGTGCTGGGTGGCGATGCAGCACATGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGTGCTGCCCGATCTGAGGCAACCGTGCGGTGGAGACAGTTTCTACGAGAGTTACAGAAAAGCCAACGTACAGAGGGGCCAGCTCCTCCTCGCTGCAGGACAGGCACCCATCTGTCCACCCCCCAAGGGGGAGGCCCTCGCCAGTCACCTGTGGGGAGCCACACGGTTTGGGCTGACAGTTTGTGGGGGGATGGTGGCTGACCAGGTGGCTGTCTTCCCTCCGGGAGTGCCGCCATTGGGAACGGGCTCTGGGGGAGTGGGGTGTGACCGGCCGTGGCTGATGCTCCCCGTGCCACTGCCAGGTGATGGATCGGGGAGTGGGGTGTGACCAGCCGTGGCTGACATGTGACCGGCCGTGGCTGACGCTCCCTGTGCCACTGCTAGGTGATGGACATGCTGCACTCTATGGGCCCCGACACCGTGGTCATCACCAGCTCCGACCTGCCCTCCCCGCAGGGCAGCAACTACCTGATTGTGCTGGGGAGTCAGAGGAGGAGTAAGTGCCCCCATCGTGCACCGTGGCCGCCTCTGCTCTTCCCAGAGGAAGGTGTTCTTTGGGGCTGCAAGAATGTTTTGGGTTCAATAGCATGAAATTTAAGCCTTATCCAGCACCGGGATGACACCCCCATTTTACAGACTCTCAGGGATCAGGTGGGATTCCCAAGACCTCACAGGTCACGATGAATGGCCTGGCTGGAACTGGCTTCCACGGACCCAGCATCATAGGCCTCCCTCAGAGCCAGGCGGGGTCCCTGAGTTCACTGGGAGGACGCGTCCACCCGGCTGTGCTGATTGTTTACACAGACACCACCTGGTTGATTTTCTCTGAACAGTGTGAAAATGACGCAGAAGGCTGGGGCCATGCACTAAGCTAGTGGCCGCGGGTTCATACCCATGGGCCCAAAAGAACAGCTGTGACCTCCTTGCCGCTCTATGTTTGGACATGGGAGCCTTGCAGGCACACACATAGGCACAAATGCACATACACTTGGGCACAAATGCACATACGGGCACACACGTGGACATGGGCACACATAGGCATACATGCACACATACACACGGGCACACACAGGCATACATGCACACGGACACATGCATACACACGGACACACATGCATACACGTGGGCACACGCACACACATGCACACACACTCGGATGCGTCCAGGTACATCCTAGTTCTTCACGCCGTCGTTACTCTCGGGAGTTTCACAGCGACCCCCGAGGCGGCCTGACCGTGTGGCCCTCTGAGGGTGCAGTCTTTCCCTTTCCCTTGCTGCGGTGATGGGGACCCCATGCATGCCCTGAGCCCCCACGTCCTGAGCAAGGCCACCTTGTGCTCTGCCCCTGTGACCCTCCCTGCCGCCGTGCCCAGGAGGATCAGGGATGGGAGGCTGGCCCTGGCAGAGGAGCGGCAGATCTCAGTGACCTTGCCCATCTTCTCCCCCTAGGGAATCCCGCTGGCTCCGTGGTGATGGAACGCATCCGGATGGACATTCGCAAAGTGGACGCCGTCTTTGTGGGCACTGGGGACCTGTTTGCTGCCATGCTCCTGGCGTGGACACACAAGCACCCCAATAACCTCAAGGTCAGCCACACGCACCGCTCCCCTCCTCGCCCACTCCCACGGCACCTCATGGGGAGCAGGATATGAGAGTCCTGGTGGGGGGTCCCTGCTGAGCTGACAGGGCATGGCCCTGAGTGCTGGCCCCAGTTGTGGGGGAGGGCAGTGGCCAGGCCATGACAGGAGTTGCGCCTGTCACTCTCACATCGCCTCCCATCTCCCCTTATTTGGGACCTAGGGATGATCAGAGTCTGTGAGGGCTTGGGTGACAGATGTTTCAGAACAGACCCATGGGGGTCCCACCAGGATTCAGATGCCACCCGCTTGGCGTTGGCGCAGGGCTGTGGGATGCATGGAGCTGTTGTGTCCTTGGTGACTTGGGGGCTGCTGCAGAGGAGTGGCACCCTGCAGCATTTCCCACAGTGTGACCACGGCAGTGACCTGAGGGACGGAAAGGCCGGAGCCGCCCTTCGGGGACAGTAGGTGGGAGGCTGAGGACAGGGGTCCAGGCAGGTGTGGAGAGCCGTCTTTCTGGGCGTTTTGTCTGGATGTCTGCCTGCTTTTCAAGTTTGTAGAGATCGGGTGGCTTTGCTTAGACAGTGGGGGGAGTGGGACTGTTGGGCAACTGACATGGCAGGTTGGGATGTGGGGTCTCGTGAGCCTTTCTCGTGTGTCCCATGGGTAAGCACACAGCTCAGCGGGGACAGAGGAGTTTTGTTGCAACTGTGGCGCTCAGATCCGTGACCTCCCGTGCTGCATGCAGCAGAGTTGCTTGTGGCCTCGGCAGGTGGTTTTGTCAGCTGAGTCCGAGGACGCCTGGAGTGTGTCTTCTTACAACACCGTCCAGAGCCGTGCTGTGCTCTGAGGTGGTCCCCAGCCCCTGGGCTCAGCCCCCAAAACTCCCCTGGGTACTTCCCACTGCGTCCGCAGTGGGTTCAGGTGGGAGGGAGGGGCCTGCCATCCCTTTGGAATGTGGGGCAGGGCAGGGGTGCCATGGGAGTGACAGGAGGAAGACAGGACACCTCTGTCACTATTGGGTGCGCTGGGGAAGGAAGAGTTCAGAGGTCAGGACCTGCAGGTGGCTCTCCCTGTGCTGTCTTTGCCGGGCCGCTTAAGGGGCCACGTGTCCCCCGGGGTACACCTCCTCCCCAACAAGTCAGTTTCAGCTGAGTGTCCTGGTGTGTAAAATGGAAGAGGTGGACTGAGGCCCTTTGCCTCCCATGGGACTAGCCCTCTGCACACCCTGAGCTGGAATGCACAGCCCCCTCATTCCATCCCTTCTGGCCCCTCAAGGGCAATTAAACAGGGCCATTAAGTAAGCCTGCCGTGTTTAATTGGTGGTGCAGGGCAGTGGAAAAGTGCCAGCTGGCACCCCGAGGAGGCCTCACTGCCAGGCCGCCCAAGGTCACATTCTGGGTTTGGCCAGCCCAGGGTTGTGGAGTCGGGGAGCGAGTTCCCCGTGCTTCCCCAGCACCTTTGACTCTGAGGCATCACTGAGTGATGATTGGCTGACTCTGAGGCATCACTGAGTGATGATTGGCTGACTCTGAGGCATCACTGAGTGATGATTGGCTGACTCTGAGGCATCACTGAGTGATGATTGGCTGACTCTGAGGCATCACTGAGTGATGATTGGCTGGGCTTTCGGCAGGAGCACTTCCCCTTGTAGACTCGTTATAAGGAGTTAATTCTGGGAACTCCTACCAAGCTCCTGCTGCCTGCCAAGTTCTATGCAGGTCACGAGGCTGTCCCTTCTGTGAGCCATCTCTTGTCCAGAGCAGGTAGCTGGGACCGGGCATCTGCTCAGCCCTCCGGGCTCTCCGTGGTGGGCAGTCCGCAGCCTGTCCTCCAGGGTTCAGCACGTGCATTGGCGGAGCCGGCTCCCCGGTGGCTCGGAGAGCAGGACGGCCCTTGTGTTCCCTGGAAATCCCCTCCTGGCAGCAGTGGGCACGTCGGGTGTTGTGAGTGGGCCAGGGGCACAGCAAGTCTGTCCT
CACAGTTCTGGAGGCTGGGAAGTCCAAGGTCAAGGCACTGGCAGGCTCAGGGTCTGGCGGGGGCTACTTTGCTACCCGGACTGCACCTTGTTGCTGCATCCTCATGTGTGGATGGCAGGGGGCTCGAGGGGCCCATGCTGCTCCCTCCAGCCCTCATCAGGCACAGAGAAAGGGGAGCCCTCATGACTTAATCATGCCCCAGAGGACCCCTTCTGAATATTGCCACATGGGTGCCATGTTTCAACATGCATTTTAGAGCAGACACTGTCAGACTGCAGCAGGAGTCCATGTGCTTTGGGCTGCGTTCCCAAGCAGCCTGGCGCTGCCCTGAATTTTGTCTTCACAACCCAGGAGCCTGGTCCTGAGAATGGGCCACTGCAGCAGCCACTCCTCCCACTCGGAGGCCTTTCGCTGACCTGGTATTGGGTCCTGGGACTGCAGAGTCAGCTGACCCTGGAGCAGGGTCCAGATTCTGCTATGGACACGTGCTGGGTGGCGATGCAGCACATGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGTGCTGCCCGATCTGAGGCAACCGTGCGGTGGAGACAGTTTCTACGAGAGTTACAGAAAAGCCAACGTACAGAGGGGCCAGCTCCTCCTCGCTGCAGGACAGGCACCCATCTGTCCACCCCCCAAGGGGGAGGCCCTCGCCAGTCACCTGTGGGGAGCCACACGGTTTGGGCTGACAGTTTGTGGGGGGATGGTGGCTGACCAGGTGGCTGTCTTCCCTCCGGGAGTGCCGCCATTGGGAACGGGCTCTGGGGGAGTGGGGTGTGACCGGCCGTGGCTGATGCTCCCCGTGCCACTGCCAGGTGATGGATCGGGGAGTGGGGTGTGACCAGCCGTGGCTGACATGTGACCGGCCGTGGCTGACGCTCCCTGTGCCACTGCTAGGTGATGGACATGCTGCACTCTATGGGCCCCGACACCGTGGTCATCACCAGCTCCGACCTGCCCTCCCCGCAGGGCAGCAACTACCTGATTGTGCTGGGGAGTCAGAGGAGGAGTAAGTGCCCCCATCGTGCACCGTGGCCGCCTCTGCTCTTCCCAGAGGAAGGTGTTCTTTGGGGCTGCAAGAATGTTTTGGGTTCAATAGCATGAAATTTAAGCCTTATCCAGCACCGGGATGACACCCCCATTTTACAGACTCTCAGGGATCAGGTGGGATTCCCAAGACCTCACAGGTCACGATGAATGGCCTGGCTGGAACTGGCTTCCACGGACCCAGCATCATAGGCCTCCCTCAGAGCCAGGCGGGGTCCCTGAGTTCACTGGGAGGACGCGTCCACCCGGCTGTGCTGATTGTTTACACAGACACCACCTGGTTGATTTTCTCTGAACAGTGTGAAAATGACGCAGAAGGCTGGGGCCATGCACTAAGCTAGTGGCCGCGGGTTCATACCCATGGGCCCAAAAGAACAGCTGTGACCTCCTTGCCGCTCTATGTTTGGACATGGGAGCCTTGCAGGCACACACATAGGCACAAATGCACATACACTTGGGCACAAATGCACATACGGGCACACACGTGGACATGGGCACACATAGGCATACATGCACACATACACACGGGCACACACAGGCATACATGCACACGGACACATGCATACACACGGACACACATGCATACACGTGGGCACACGCACACACATGCACACACACTCGGATGCGTCCAGGTACATCCTAGTTCTTCACGCCGTCGTTACTCTCGGGAGTTTCACAGCGACCCCCGAGGCGGCCTGACCGTGTGGCCCTCTGAGGGTGCAGTCTTTCCCTTTCCCTTGCTGCGGTGATGGGGACCCCATGCATGCCCTGAGCCCCCACGTCCTGAGCAAGGCCACCTTGTGCTCTGCCCCTGTGACCCTCCCTGCCGCCGTGCCCAGGAGGATCAGGGATGGGAGGCTGGCCCTGGCAGAGGAGCGGCAGATCTCAGTGACCTTGCCCATCTTCTCCCCCTAGGGAATCCCGCTGGCTCCGTGGTGATGGAACGCATCCGGATGGACATTCGCAAAGTGGACACCGTCTTTGTGGGCACTGGGGACCTGTTTGCTGCCATGCTCCTGGCGTGGACACACAAGCACCCCAATAACCTCAAGGTCAGCCACACGCACCGCTCCCCTCCTCGCCCACTCCCACGGCACCTCATGGGGAGCAGGATATGAGAGTCCTGGTGGGGGGTCCCTGCTGAGCTGACAGGGCATGGCCCTGAGTGCTGGCCCCAGTTGTGGGGGAGGGCAGTGGCCAGGCCATGACAGGAGTTGCGCCTGTCACTCTCACATCGCCTCCCATCTCCCCTTATTTGGGACCTAGGGATGATCAGAGTCTGTGAGGGCTTGGGTGACAGATGTTTCAGAACAGACCCATGGGGGTCCCACCAGGATTCAGATGCCACCCGCTTGGCGTTGGCGCAGGGCTGTGGGATGCATGGAGCTGTTGTGTCCTTGGTGACTTGGGGGCTGCTGCAGAGGAGTGGCACCCTGCAGCATTTCCCACAGTGTGACCACGGCAGTGACCTGAGGGACGGAAAGGCCGGAGCCGCCCTTCGGGGACAGTAGGTGGGAGGCTGAGGACAGGGGTCCAGGCAGGTGTGGAGAGCCGTCTTTCTGGGCGTTTTGTCTGGATGTCTGCCTGCTTTTCAAGTTTGTAGAGATCGGGTGGCTTTGCTTAGACAGTGGGGGGAGTGGGACTGTTGGGCAACTGACATGGCAGGTTGGGATGTGGGGTCTCGTGAGCCTTTCTCGTGTGTCCCATGGGTAAGCACACAGCTCAGCGGGGACAGAGGAGTTTTGTTGCAACTGTGGCGCTCAGATCCGTGACCTCCCGTGCTGCATGCAGCAGAGTTGCTTGTGGCCTCGGCAGGTGGTTTTGTCAGCTGAGTCCGAGGACGCCTGGAGTGTGTCTTCTTACAACACCGTCCAGAGCCGTGCTGTGCTCTGAGGTGGTCCCCAGCCCCTGGGCTCAGCCCCCAAAACTCCCCTGGGTACTTCCCACTGCGTCCGCAGTGGGTTCAGGTGGGAGGGAGGGGCCTGCCATCCCTTTGGAATGTGGGGCAGGGCAGGGGTGCCATGGGAGTGACAGGAGGAAGACAGGACACCTCTGTCACTATTGGGTGCGCTGGGGAAGGAAGAGTTCAGAGGTCAGGACCTGCAGGTGGCTCTCCCTGTGCTGTCTTTGCCGGGCCGCTTAAGGGGCCACGTGTCCCCCGGGGTACACCTCCTCCCCAACAAGTCAGTTTCAGCTGAGTGTCCTGGTGTGTAAAATGGAAGAGGTGGACTGAGGCCCTTTGCCTCCCATGGGACTAGCCCTCTGCACACCCTGAGCTGGAATGCACAGCCCCCTCATTCCATCCCTTCTGGCCCCTCAAGGGCAATTAAACAGGGCCATTAAGTAAGCCTGCCGTGTTTAATTGGTGGTGCAGGGCAGTGGAAAAGTGCCAGCTGGCACCCCGAGGAGGCCTCACTGCCAGGCCGCCCAAGGTCACATTCTGGGTTTGGCCAGCCCAGGGTTGTGGAGTCGGGGAGCGAGTTCCCCGTGCTTCCCCAGCACCTTTGACTCTGAGGCATCACTGAGTGATGATTGGCTGACTCTGAGGCATCACTGAGTGATGATTGGCTGACTCTGAGGCATCACTGAGTGATGATTGGCTGACTCTGAGGCATCACTGAGTGATGATTGGCTGACTCTGAGGCATCACTGAGTGATGATTGGCTGGGCTTTCGGCAGGAGCACTTCCCCTTGTAGACTCGTTATAAGGAGTTAATTCTGGGAACTCCTACCAAGCTCCTGCTGCCTGCCAAGTTCTATGCAGGTCACGAGGCTGTCCCTTCTGTGAGCCATCTCTTGTCCAGAGCAGGTAGCTGGGACCGGGCATCTGCTCAGCCCTCCGGGCTCTCCGTGGTGGGCAGTCCGCAGCCTGTCCTCCAGGGTTCAGCACGTGCATTGGCGGAGCCGGCTCCCCGGTGGCTCGGAGAGCAGGACGGCCCTTGTGTTCCCTGGAAATCCCCTCCTGGCAGCAGTGGGCACGTCGGGTGTTGTGAGTGGGCCAGGGGCACAGCAAGTCTGTCCT
Task1_train_28440
Gene CSTB (cystatin B), found on Chromosome 21, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Unverricht-Lundborg syndrome
TCACTGCAACCTCCTCTGCCTCCTGGGTTCAAGCTATTCTCTTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCTGGCTAGTTTTTTGTATTTTATTTTATTTTTTTCAGTAGGGATGGGGTTTCACCATGTTGGTCAGGCTGGTCCCGGAACTCCTGACCTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCTGTAATTTTGATCCCTTTGTCAACTTGTATTTAAACCAGACCACAGCATTAATTACATATTTTATTTTCTGTTTTACACTGATATTTCCTGTTTACACACAAGCTTCTAACCCTAAATCCAGCTTCCCCCAACCCAGGTGCCCCATAGGAGTTCCTGGTCACTGCTCCTGCAGACAACCGCTCCCTTCCTGTTGGGGATGGCTCTCCCGCTGCGTGGTCCCCTAAACAGCCCCTCCCCCACCTGCCTTCCGCTGGAAATTCTCAAGTGGGAAATACAACGGGTTTTCCTTTCAATGCAAAACTGCTTGATTCTGTTTTGCATGTTATAAAAGCTTAGTCTCAGAGTTCATGTTAAGAGTGTAGAATACACACAGTCCATGATTCAGTTTTCTTTTTGGTTTTTTTTTGAGATAGGATCTCACTCTGTCACCCACCCAGGCTGGAGTGCAGAGGTACGATCTCGGCTCACTGCACCCACCACCTCCCGAGTCCAAGTGATCCTCCCGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGCCACAACGCCCAGCTAATTTTTTTATTATTAGTAGAGACAGGGTTTCACCATGTGGGTCAGGCTGGCCTAGAACTCCTGACCTCAGAGTGATCCACCCACCTTGGCCTCCCAAAGTGTTGGGATTCTAGGTGTGAGCCACCGCGCCCGGCCTGATTCAGAATTTCCTAACATCACTTTCAAAGCTCTGTGGACTCACTGGTAGATCCCTCCTTAGTCTTCACAGATCCCCCACGATCTGGACAGCCTGAACCCTGCAGCTGCAGTTCTGGCATACGCTGCCGGACGCCTCGGAGGCAAAGCGCAGCTCAGGACACCCTCAGGAACACGTTCACATCATGACCCCGGTGCACAGAGACTTTCACCCCCAGTCTTAGCTCTTATCATGTATGATGCTCCCTCTTCTGTCCTATTTAACATAGAATCACAGTTGGGAAGGCACCGGACCAATTCCATGAATGGGAAGTAATCCCTGTTGAAAACTAGAAGGTGTTTTTAAAAACAGCCACGCTCTCCTAAGATACCTCCCTTTAGAAGCCCACGTGGCTCCATGGGAAGCCTCCCGCACCACAGGGCACTCAGTGAGGCTGCAGGCTATTCTGCACGTGCACGACACTGTGTGGCTGCCTCTCCGTACCAGAGCATAAAGTGCGTGAATGTATCTGAGATCTGGAGCCAGTTATGCTCTGGAATTGGATTTACTCACACTCTTTTATTTTATGGGAGAAACTGAAGCTTGGGGCCAGGACCTAAGAGTCAAAGCACCAACATGTAAAGAGTGGTGGTTAGGAACGCGGGCCGGAGTGGGCAGGTGTGAATCCTGGGTCCACCACCTGCTTGCTGTGTGAGCCAGGCAGTCTCTCCGCCCTCCATGCCCCCGAGGGGAAGGACCTGCCCGGGGTGGTTCAGACGAAGAAAAAAGTCTAAAACAAAGGAGGCAATCTGTAAGGATTTTAAAAATATATCTATTTTGAAAATATTCTGAAAGTAATTAAGATCACCTATTGGGAAGGAAAGAAATCAACACAATGAAATTTAGGAAGAGAAATGCAAAAGCAGCTGCAGAATCCTGCCCCTTCCACCCCAAGGGGCACAGCCCGGAGATGAAGCTTATTTTAGGATCACAAGTGCACGCTCTGGTAGACGGAGGATGACTTTGTCAGTCTTCTGGCTGAAGGGCCTTGTCCAAAGTCAGGATCAGAAATAGGTCAGCTCATCATGCTTGGCTTTGTTGGTCTGGTAGTTAGATAAGGTCAAGGGCTTGTTTTCATGAGGGAGAGATTGGAACACTCGCAGGTGTACGAAGTCCTCGTCGCCGACGTGCACCTGGGAAGAGAGCGGAGTGAGCGAAGCCTCTGATCCCAAGTCACCTTGCTGCGCCCCTCCAGGTCATTAGCAGCCAGCTGAAGACAATCTTGTCTTCTCCTGCATGTGCAGGGGATGCCTCACATCCCACACTTGTTTCCTTGGGGTTCTTAGCTCCCCAGAAGCCCTAGTCCTCCTGAAAGGCCGATGGACACACACAGTAGGATGCTTATCTCAGGGGGCAGCCACAGGGCGCCCCAGCACCTAAGACCACACAGCCCGGGCCTGCACAGGCGGTTTCCTACCAGCACCCGTTCGGGGCAGGCCCTCCTGAGGCCCACACTCTACCTTGATGAAGTAGTTTGTCCCCGCGACCACCTGGCTCTTGAATGACACGGCCTTAAACACAGGGAACTTCTTGTTTTCTTTCTCTTCAAGCTGGGACCTCACCTAGACAGAAGGGACAGAATGAGGATGTCTCAGTGGCTTCTTGGATTCCCTCCTGCTAGAGTAACTTGCACGCATGTGAGCACACACACGATTCTGACACTGGCTCTTCACACAATTGTCTCTTACAACTGAAGGGACATTTAAACTGTCAGCCTAATAATAAAGTAGAAAAAAACAGTTCCAGCTGGGTACGGTGGCTCAAGGATGTAATCCCAGAACTTTGGGAGGCTGAGGTGGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTAGCCAAATGGCAAAACCCCGTTTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGAGCACCTGCAATCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATCCCTTGAACCTGGGAAGCGGAGGTTGCAGTGGGCCGAGATTGTGCCACTGCACTCCACCCTGGGCAAGAGTGAGACTGAGTCTCAAAAACAAAAAAAAAAAACACAGGCCTCAGCATCGCCTGGACCTGTTCTTGCTTGGGGCATCCCGTCGGTCACCAACCATGACAGCGAGGCGGGCCTGGCCTGTGCTCCACCGGAGGGGGCTTCTTGCACAGATGACCTGCTCATTTCAGCCCCTCCAGAATCTTCTGGCAGGCGCAGAGCAACAGGACGTCCATTTTACAGACGAGGAAACCGAGACACAGGGAAGGTTGCCATCTGCAACCCAGCCCGGTTTTTATCTTGTTTTTCTGTGTTTTAACTTTTTATTTAGACTTACAGTTTGAAACAGTGCTAGAATCGGAAGCATGTAAAGAAACCTGTGGACCTTTTATGCAGATACACTTAAGTTTTTAACCCATGTGCCTTATCACTGGGGACCTCTTGCACTCTCTCTCATGATTTTTTTCCCGAACTAGATGAGGATATTGACAAAGATTCTTGCTTGGCCAAACTGTAGTCGGGCTCCTGAAGCGCCTAGGCCACCTGCGCACTTCCTTGTAAAATCCACTTTTAGCAAGAAGCCTGGCTAAGTCAGTTTAGCCAGACCCTTCCCACCCGCTTGCTATCGGATCACCGTGGAGATCGGAGCCGGCTGCTCACCTGCGCCATCGCCGGCGACGCCCGATCACCCTGCCTGCCTGAAACCAGAAGCGCCTCATCCCTGGGGTTTCCTCTCAGAGACTGTCCATGCAGGGACCGCACCCTGCTCCGGGCTATCAATTCCCACTCGCCCTTGCTGTATTCAGCGGAGCCCAATGTCTCCCCAGCGGCGCCCCAGGCGCGGCCCCCCGCTGCTCACTCGCGCGCAGCGCCCGAGCGGAGGGAGGCCTCTCACGGCCACAGCCCGGGCCAGCCCAGGGGTGCGCAGCGGGGCCAAAGCGGCTTCTTTCGCTCCAGGAGCCGCGGCCGCGCCCTGAGGCTAAGGCAGGACTCCGGGCCGGCCCCGTCCCCGCGGCCCACCCACCTGGTCGGCGATGTGCTGGGTCTCGGCGGTGGCCGGCTGCGTGGCGGAGGGCGCCCCGCACATCATCTTGGCGGCGACGGAGGGAATCTGGCGAGGGGACTCGGCGAGGGGACGCGGCGGCTCCTCAGCCC
TCACTGCAACCTCCTCTGCCTCCTGGGTTCAAGCTATTCTCTTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCTGGCTAGTTTTTTGTATTTTATTTTATTTTTTTCAGTAGGGATGGGGTTTCACCATGTTGGTCAGGCTGGTCCCGGAACTCCTGACCTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCTGTAATTTTGATCCCTTTGTCAACTTGTATTTAAACCAGACCACAGCATTAATTACATATTTTATTTTCTGTTTTACACTGATATTTCCTGTTTACACACAAGCTTCTAACCCTAAATCCAGCTTCCCCCAACCCAGGTGCCCCATAGGAGTTCCTGGTCACTGCTCCTGCAGACAACCGCTCCCTTCCTGTTGGGGATGGCTCTCCCGCTGCGTGGTCCCCTAAACAGCCCCTCCCCCACCTGCCTTCCGCTGGAAATTCTCAAGTGGGAAATACAACGGGTTTTCCTTTCAATGCAAAACTGCTTGATTCTGTTTTGCATGTTATAAAAGCTTAGTCTCAGAGTTCATGTTAAGAGTGTAGAATACACACAGTCCATGATTCAGTTTTCTTTTTGGTTTTTTTTTGAGATAGGATCTCACTCTGTCACCCACCCAGGCTGGAGTGCAGAGGTACGATCTCGGCTCACTGCACCCACCACCTCCCGAGTCCAAGTGATCCTCCCGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGCCACAACGCCCAGCTAATTTTTTTATTATTAGTAGAGACAGGGTTTCACCATGTGGGTCAGGCTGGCCTAGAACTCCTGACCTCAGAGTGATCCACCCACCTTGGCCTCCCAAAGTGTTGGGATTCTAGGTGTGAGCCACCGCGCCCGGCCTGATTCAGAATTTCCTAACATCACTTTCAAAGCTCTGTGGACTCACTGGTAGATCCCTCCTTAGTCTTCACAGATCCCCCACGATCTGGACAGCCTGAACCCTGCAGCTGCAGTTCTGGCATACGCTGCCGGACGCCTCGGAGGCAAAGCGCAGCTCAGGACACCCTCAGGAACACGTTCACATCATGACCCCGGTGCACAGAGACTTTCACCCCCAGTCTTAGCTCTTATCATGTATGATGCTCCCTCTTCTGTCCTATTTAACATAGAATCACAGTTGGGAAGGCACCGGACCAATTCCATGAATGGGAAGTAATCCCTGTTGAAAACTAGAAGGTGTTTTTAAAAACAGCCACGCTCTCCTAAGATACCTCCCTTTAGAAGCCCACGTGGCTCCATGGGAAGCCTCCCGCACCACAGGGCACTCAGTGAGGCTGCAGGCTATTCTGCACGTGCACGACACTGTGTGGCTGCCTCTCCGTACCAGAGCATAAAGTGCGTGAATGTATCTGAGATCTGGAGCCAGTTATGCTCTGGAATTGGATTTACTCACACTCTTTTATTTTATGGGAGAAACTGAAGCTTGGGGCCAGGACCTAAGAGTCAAAGCACCAACATGTAAAGAGTGGTGGTTAGGAACGCGGGCCGGAGTGGGCAGGTGTGAATCCTGGGTCCACCACCTGCTTGCTGTGTGAGCCAGGCAGTCTCTCCGCCCTCCATGCCCCCGAGGGGAAGGACCTGCCCGGGGTGGTTCAGACGAAGAAAAAAGTCTAAAACAAAGGAGGCAATCTGTAAGGATTTTAAAAATATATCTATTTTGAAAATATTCTGAAAGTAATTAAGATCACCTATTGGGAAGGAAAGAAATCAACACAATGAAATTTAGGAAGAGAAATGCAAAAGCAGCTGCAGAATCCTGCCCCTTCCACCCCAAGGGGCACAGCCCGGAGATGAAGCTTATTTTAGGATCACAAGTGCACGCTCTGGTAGACGGAGGATGACTTTGTCAGTCTTCTGGCTGAAGGGCCTTGTCCAAAGTCAGGATCAGAAATAGGTCAGCTCATCATGCTTGGCTTTGTTGGTCTGGTAGTTAGATAAGGTCAAGGGCTTGTTTTCATGAGGGAGAGATGGGAACACTCGCAGGTGTACGAAGTCCTCGTCGCCGACGTGCACCTGGGAAGAGAGCGGAGTGAGCGAAGCCTCTGATCCCAAGTCACCTTGCTGCGCCCCTCCAGGTCATTAGCAGCCAGCTGAAGACAATCTTGTCTTCTCCTGCATGTGCAGGGGATGCCTCACATCCCACACTTGTTTCCTTGGGGTTCTTAGCTCCCCAGAAGCCCTAGTCCTCCTGAAAGGCCGATGGACACACACAGTAGGATGCTTATCTCAGGGGGCAGCCACAGGGCGCCCCAGCACCTAAGACCACACAGCCCGGGCCTGCACAGGCGGTTTCCTACCAGCACCCGTTCGGGGCAGGCCCTCCTGAGGCCCACACTCTACCTTGATGAAGTAGTTTGTCCCCGCGACCACCTGGCTCTTGAATGACACGGCCTTAAACACAGGGAACTTCTTGTTTTCTTTCTCTTCAAGCTGGGACCTCACCTAGACAGAAGGGACAGAATGAGGATGTCTCAGTGGCTTCTTGGATTCCCTCCTGCTAGAGTAACTTGCACGCATGTGAGCACACACACGATTCTGACACTGGCTCTTCACACAATTGTCTCTTACAACTGAAGGGACATTTAAACTGTCAGCCTAATAATAAAGTAGAAAAAAACAGTTCCAGCTGGGTACGGTGGCTCAAGGATGTAATCCCAGAACTTTGGGAGGCTGAGGTGGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTAGCCAAATGGCAAAACCCCGTTTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGAGCACCTGCAATCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATCCCTTGAACCTGGGAAGCGGAGGTTGCAGTGGGCCGAGATTGTGCCACTGCACTCCACCCTGGGCAAGAGTGAGACTGAGTCTCAAAAACAAAAAAAAAAAACACAGGCCTCAGCATCGCCTGGACCTGTTCTTGCTTGGGGCATCCCGTCGGTCACCAACCATGACAGCGAGGCGGGCCTGGCCTGTGCTCCACCGGAGGGGGCTTCTTGCACAGATGACCTGCTCATTTCAGCCCCTCCAGAATCTTCTGGCAGGCGCAGAGCAACAGGACGTCCATTTTACAGACGAGGAAACCGAGACACAGGGAAGGTTGCCATCTGCAACCCAGCCCGGTTTTTATCTTGTTTTTCTGTGTTTTAACTTTTTATTTAGACTTACAGTTTGAAACAGTGCTAGAATCGGAAGCATGTAAAGAAACCTGTGGACCTTTTATGCAGATACACTTAAGTTTTTAACCCATGTGCCTTATCACTGGGGACCTCTTGCACTCTCTCTCATGATTTTTTTCCCGAACTAGATGAGGATATTGACAAAGATTCTTGCTTGGCCAAACTGTAGTCGGGCTCCTGAAGCGCCTAGGCCACCTGCGCACTTCCTTGTAAAATCCACTTTTAGCAAGAAGCCTGGCTAAGTCAGTTTAGCCAGACCCTTCCCACCCGCTTGCTATCGGATCACCGTGGAGATCGGAGCCGGCTGCTCACCTGCGCCATCGCCGGCGACGCCCGATCACCCTGCCTGCCTGAAACCAGAAGCGCCTCATCCCTGGGGTTTCCTCTCAGAGACTGTCCATGCAGGGACCGCACCCTGCTCCGGGCTATCAATTCCCACTCGCCCTTGCTGTATTCAGCGGAGCCCAATGTCTCCCCAGCGGCGCCCCAGGCGCGGCCCCCCGCTGCTCACTCGCGCGCAGCGCCCGAGCGGAGGGAGGCCTCTCACGGCCACAGCCCGGGCCAGCCCAGGGGTGCGCAGCGGGGCCAAAGCGGCTTCTTTCGCTCCAGGAGCCGCGGCCGCGCCCTGAGGCTAAGGCAGGACTCCGGGCCGGCCCCGTCCCCGCGGCCCACCCACCTGGTCGGCGATGTGCTGGGTCTCGGCGGTGGCCGGCTGCGTGGCGGAGGGCGCCCCGCACATCATCTTGGCGGCGACGGAGGGAATCTGGCGAGGGGACTCGGCGAGGGGACGCGGCGGCTCCTCAGCCC
Task1_train_28441
The following genetic variant occurs in LOC130066788, CSTB (ATAC-STARR-seq lymphoblastoid silent region 13368| cystatin B) on Chromosome 21. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Unverricht-Lundborg syndrome
GTCAGCTCATCATGCTTGGCTTTGTTGGTCTGGTAGTTAGATAAGGTCAAGGGCTTGTTTTCATGAGGGAGAGATTGGAACACTCGCAGGTGTACGAAGTCCTCGTCGCCGACGTGCACCTGGGAAGAGAGCGGAGTGAGCGAAGCCTCTGATCCCAAGTCACCTTGCTGCGCCCCTCCAGGTCATTAGCAGCCAGCTGAAGACAATCTTGTCTTCTCCTGCATGTGCAGGGGATGCCTCACATCCCACACTTGTTTCCTTGGGGTTCTTAGCTCCCCAGAAGCCCTAGTCCTCCTGAAAGGCCGATGGACACACACAGTAGGATGCTTATCTCAGGGGGCAGCCACAGGGCGCCCCAGCACCTAAGACCACACAGCCCGGGCCTGCACAGGCGGTTTCCTACCAGCACCCGTTCGGGGCAGGCCCTCCTGAGGCCCACACTCTACCTTGATGAAGTAGTTTGTCCCCGCGACCACCTGGCTCTTGAATGACACGGCCTTAAACACAGGGAACTTCTTGTTTTCTTTCTCTTCAAGCTGGGACCTCACCTAGACAGAAGGGACAGAATGAGGATGTCTCAGTGGCTTCTTGGATTCCCTCCTGCTAGAGTAACTTGCACGCATGTGAGCACACACACGATTCTGACACTGGCTCTTCACACAATTGTCTCTTACAACTGAAGGGACATTTAAACTGTCAGCCTAATAATAAAGTAGAAAAAAACAGTTCCAGCTGGGTACGGTGGCTCAAGGATGTAATCCCAGAACTTTGGGAGGCTGAGGTGGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTAGCCAAATGGCAAAACCCCGTTTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGAGCACCTGCAATCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATCCCTTGAACCTGGGAAGCGGAGGTTGCAGTGGGCCGAGATTGTGCCACTGCACTCCACCCTGGGCAAGAGTGAGACTGAGTCTCAAAAACAAAAAAAAAAAACACAGGCCTCAGCATCGCCTGGACCTGTTCTTGCTTGGGGCATCCCGTCGGTCACCAACCATGACAGCGAGGCGGGCCTGGCCTGTGCTCCACCGGAGGGGGCTTCTTGCACAGATGACCTGCTCATTTCAGCCCCTCCAGAATCTTCTGGCAGGCGCAGAGCAACAGGACGTCCATTTTACAGACGAGGAAACCGAGACACAGGGAAGGTTGCCATCTGCAACCCAGCCCGGTTTTTATCTTGTTTTTCTGTGTTTTAACTTTTTATTTAGACTTACAGTTTGAAACAGTGCTAGAATCGGAAGCATGTAAAGAAACCTGTGGACCTTTTATGCAGATACACTTAAGTTTTTAACCCATGTGCCTTATCACTGGGGACCTCTTGCACTCTCTCTCATGATTTTTTTCCCGAACTAGATGAGGATATTGACAAAGATTCTTGCTTGGCCAAACTGTAGTCGGGCTCCTGAAGCGCCTAGGCCACCTGCGCACTTCCTTGTAAAATCCACTTTTAGCAAGAAGCCTGGCTAAGTCAGTTTAGCCAGACCCTTCCCACCCGCTTGCTATCGGATCACCGTGGAGATCGGAGCCGGCTGCTCACCTGCGCCATCGCCGGCGACGCCCGATCACCCTGCCTGCCTGAAACCAGAAGCGCCTCATCCCTGGGGTTTCCTCTCAGAGACTGTCCATGCAGGGACCGCACCCTGCTCCGGGCTATCAATTCCCACTCGCCCTTGCTGTATTCAGCGGAGCCCAATGTCTCCCCAGCGGCGCCCCAGGCGCGGCCCCCCGCTGCTCACTCGCGCGCAGCGCCCGAGCGGAGGGAGGCCTCTCACGGCCACAGCCCGGGCCAGCCCAGGGGTGCGCAGCGGGGCCAAAGCGGCTTCTTTCGCTCCAGGAGCCGCGGCCGCGCCCTGAGGCTAAGGCAGGACTCCGGGCCGGCCCCGTCCCCGCGGCCCACCCACCTGGTCGGCGATGTGCTGGGTCTCGGCGGTGGCCGGCTGCGTGGCGGAGGGCGCCCCGCACATCATCTTGGCGGCGACGGAGGGAATCTGGCGAGGGGACTCGGCGAGGGGACGCGGCGGCTCCTCAGCCCAAGTAGGCGCTGGGGTCACGTGACGCGCGGGCGGAACCAAGGGGCGGGGAGGAGGCACTTTGGCTTCGGAGTCCCCTGCGGGGTCGCGGTGGCCCCGCAAGAAGGGACGCGCGGGGCGGGGCGCGGGGCGGGGCGCGGGGCGGGGAACCTGGCCACCACTCGCCGCAGGCTGGGTCTCCGCGCCCAGCGCTGGTGTCGGGAGGGAGCGCCCCCCTCCCGGGGCTGGTATCGTCTTTCCGGGCGCCGAGTCACACGGACCGGGGCGGGGGCGCGGCCGGGTGTCGCCGGTGGGTTGGGCGCGCAGGGTGGGACGATAGGGAAGGGGCAGTCGGAGTAGGCGCAATCCTGCAGGGTGGCGGGGTCCGGGCCGCGCACGAGGGAGGGCGGGGCGCAGCGCTGCAGGGGTCAGGGGTCAGGGGTCCCGGCCCCGCGGGAGCAGGTGTGCGGGCTGCAGTGGACATCACCGCTTGTGACCGAGAACACTGAAGGCTGAAGGGGGTGGACAGAGGGGCCCAGGGAGGGGGAGACGGCGCCCACGCGCTCCAGGCTGGGTGGGGGCAGGGGGTAGATCAGAGGGATGAGAAGAAGGCAGGGTTCTCTGGTGGAATTTGCGTTTTAGGATTTCTTTTCTTTCTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTTACTGCAGGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCTTTTTTTTTTTTTTTTTGAGACGGAGTCTGGATCTGTCGCCTAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCGGGGTTCACACCATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGACTACAGGCGCGCGCCTTCATGCGCAGCTAATTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCGGGCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGTACCTGACCTCTTTTCTTTCTTTCTTTTTTTTTTTTTTGACAGAGTCTTGCTCTGTTGGCCAGGCTGGGGTGCAGTGGCCTGATCACAACTCATTGCAGCCTGGACCTCCTGGGCTCAAGCGATCTTCCCACCTCAGCTGCTATAGTAGCTGGGACCACAGGCCCACCCTACCACACACATATATAGAGACAGAGAGTTTCACCATGTTACCCAGGCTGGTCTGGAACTTCTGAGCGATCTGTCCACCTCGGCCTCCCAAAGTGCTGGGATTATTGGCATAAACCACTGCACCCCTAATTTTTTTAAAAAGTGTTTTTGTAGAGATGGAGTCTCACTATATTGCCCAGGCTGGTCTTGAACTCCTAGGCTAAAATCGATCCATCCCCCAAAGTGCTGGGATGACAGGCTTGAGCCACCACACAGTCCCTTTGGTTTAGGGTTTCTGTTAGACTGGACCACCTGCGGAAGGGAAGGGTCGCTTGCCTTATTTGGGGTGGGGGTGGGGCCTGTGCTAGGCACCTGTTGGTGTGATTGACTCCTCAAAATGACCCAGAGCCCCCACCCAAGGGCTGTCCCTCAGGGGGACTGGTCCGCTCCTGCATGCAAGGCCCCAGCTGGAGCGGCCCATGAATGGGTTGTGGGGTCCTTTCTCTTACCTGCCAGGGCACAGCCTGGTCTGTCACTTCAGGGAAGGGCCCAAAGGGGTGGGCAGTCAGGTGTGGTTGAAGCC
GTCAGCTCATCATGCTTGGCTTTGTTGGTCTGGTAGTTAGATAAGGTCAAGGGCTTGTTTTCATGAGGGAGAGATTGGAACACTCGCAGGTGTACGAAGTCCTCGTCGCCGACGTGCACCTGGGAAGAGAGCGGAGTGAGCGAAGCCTCTGATCCCAAGTCACCTTGCTGCGCCCCTCCAGGTCATTAGCAGCCAGCTGAAGACAATCTTGTCTTCTCCTGCATGTGCAGGGGATGCCTCACATCCCACACTTGTTTCCTTGGGGTTCTTAGCTCCCCAGAAGCCCTAGTCCTCCTGAAAGGCCGATGGACACACACAGTAGGATGCTTATCTCAGGGGGCAGCCACAGGGCGCCCCAGCACCTAAGACCACACAGCCCGGGCCTGCACAGGCGGTTTCCTACCAGCACCCGTTCGGGGCAGGCCCTCCTGAGGCCCACACTCTACCTTGATGAAGTAGTTTGTCCCCGCGACCACCTGGCTCTTGAATGACACGGCCTTAAACACAGGGAACTTCTTGTTTTCTTTCTCTTCAAGCTGGGACCTCACCTAGACAGAAGGGACAGAATGAGGATGTCTCAGTGGCTTCTTGGATTCCCTCCTGCTAGAGTAACTTGCACGCATGTGAGCACACACACGATTCTGACACTGGCTCTTCACACAATTGTCTCTTACAACTGAAGGGACATTTAAACTGTCAGCCTAATAATAAAGTAGAAAAAAACAGTTCCAGCTGGGTACGGTGGCTCAAGGATGTAATCCCAGAACTTTGGGAGGCTGAGGTGGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTAGCCAAATGGCAAAACCCCGTTTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGAGCACCTGCAATCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATCCCTTGAACCTGGGAAGCGGAGGTTGCAGTGGGCCGAGATTGTGCCACTGCACTCCACCCTGGGCAAGAGTGAGACTGAGTCTCAAAAACAAAAAAAAAAAACACAGGCCTCAGCATCGCCTGGACCTGTTCTTGCTTGGGGCATCCCGTCGGTCACCAACCATGACAGCGAGGCGGGCCTGGCCTGTGCTCCACCGGAGGGGGCTTCTTGCACAGATGACCTGCTCATTTCAGCCCCTCCAGAATCTTCTGGCAGGCGCAGAGCAACAGGACGTCCATTTTACAGACGAGGAAACCGAGACACAGGGAAGGTTGCCATCTGCAACCCAGCCCGGTTTTTATCTTGTTTTTCTGTGTTTTAACTTTTTATTTAGACTTACAGTTTGAAACAGTGCTAGAATCGGAAGCATGTAAAGAAACCTGTGGACCTTTTATGCAGATACACTTAAGTTTTTAACCCATGTGCCTTATCACTGGGGACCTCTTGCACTCTCTCTCATGATTTTTTTCCCGAACTAGATGAGGATATTGACAAAGATTCTTGCTTGGCCAAACTGTAGTCGGGCTCCTGAAGCGCCTAGGCCACCTGCGCACTTCCTTGTAAAATCCACTTTTAGCAAGAAGCCTGGCTAAGTCAGTTTAGCCAGACCCTTCCCACCCGCTTGCTATCGGATCACCGTGGAGATCGGAGCCGGCTGCTCACCTGCGCCATCGCCGGCGACGCCCGATCACCCTGCCTGCCTGAAACCAGAAGCGCCTCATCCCTGGGGTTTCCTCTCAGAGACTGTCCATGCAGGGACCGCACCCTGCTCCGGGCTATCAATTCCCACTCGCCCTTGCTGTATTCAGCGGAGCCCAATGTCTCCCCAGCGGCGCCCCAGGCGCGGCCCCCCGCTGCTCACTCGCGCGCAGCGCCCGAGCGGAGGGAGGCCTCTCACGGCCACAGCCCGGGCCAGCCCAGGGGTGCGCAGCGGGGCCAAAGCGGCTTCTTTCGCTCCAGGAGCCGCGGCCGCGCCCTGAGGCTAAGGCAGGACTCCGGGCCGGCCCCGTCCCCGCGGCCCACCCACCTGGTCGGCGATGTGCTGGGTCTCGGCGGTGGCCGGCTGCGTGGCGGAGGGCGCCCGGCACATCATCTTGGCGGCGACGGAGGGAATCTGGCGAGGGGACTCGGCGAGGGGACGCGGCGGCTCCTCAGCCCAAGTAGGCGCTGGGGTCACGTGACGCGCGGGCGGAACCAAGGGGCGGGGAGGAGGCACTTTGGCTTCGGAGTCCCCTGCGGGGTCGCGGTGGCCCCGCAAGAAGGGACGCGCGGGGCGGGGCGCGGGGCGGGGCGCGGGGCGGGGAACCTGGCCACCACTCGCCGCAGGCTGGGTCTCCGCGCCCAGCGCTGGTGTCGGGAGGGAGCGCCCCCCTCCCGGGGCTGGTATCGTCTTTCCGGGCGCCGAGTCACACGGACCGGGGCGGGGGCGCGGCCGGGTGTCGCCGGTGGGTTGGGCGCGCAGGGTGGGACGATAGGGAAGGGGCAGTCGGAGTAGGCGCAATCCTGCAGGGTGGCGGGGTCCGGGCCGCGCACGAGGGAGGGCGGGGCGCAGCGCTGCAGGGGTCAGGGGTCAGGGGTCCCGGCCCCGCGGGAGCAGGTGTGCGGGCTGCAGTGGACATCACCGCTTGTGACCGAGAACACTGAAGGCTGAAGGGGGTGGACAGAGGGGCCCAGGGAGGGGGAGACGGCGCCCACGCGCTCCAGGCTGGGTGGGGGCAGGGGGTAGATCAGAGGGATGAGAAGAAGGCAGGGTTCTCTGGTGGAATTTGCGTTTTAGGATTTCTTTTCTTTCTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTTACTGCAGGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCTTTTTTTTTTTTTTTTTGAGACGGAGTCTGGATCTGTCGCCTAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCGGGGTTCACACCATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGACTACAGGCGCGCGCCTTCATGCGCAGCTAATTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCGGGCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGTACCTGACCTCTTTTCTTTCTTTCTTTTTTTTTTTTTTGACAGAGTCTTGCTCTGTTGGCCAGGCTGGGGTGCAGTGGCCTGATCACAACTCATTGCAGCCTGGACCTCCTGGGCTCAAGCGATCTTCCCACCTCAGCTGCTATAGTAGCTGGGACCACAGGCCCACCCTACCACACACATATATAGAGACAGAGAGTTTCACCATGTTACCCAGGCTGGTCTGGAACTTCTGAGCGATCTGTCCACCTCGGCCTCCCAAAGTGCTGGGATTATTGGCATAAACCACTGCACCCCTAATTTTTTTAAAAAGTGTTTTTGTAGAGATGGAGTCTCACTATATTGCCCAGGCTGGTCTTGAACTCCTAGGCTAAAATCGATCCATCCCCCAAAGTGCTGGGATGACAGGCTTGAGCCACCACACAGTCCCTTTGGTTTAGGGTTTCTGTTAGACTGGACCACCTGCGGAAGGGAAGGGTCGCTTGCCTTATTTGGGGTGGGGGTGGGGCCTGTGCTAGGCACCTGTTGGTGTGATTGACTCCTCAAAATGACCCAGAGCCCCCACCCAAGGGCTGTCCCTCAGGGGGACTGGTCCGCTCCTGCATGCAAGGCCCCAGCTGGAGCGGCCCATGAATGGGTTGTGGGGTCCTTTCTCTTACCTGCCAGGGCACAGCCTGGTCTGTCACTTCAGGGAAGGGCCCAAAGGGGTGGGCAGTCAGGTGTGGTTGAAGCC
Task1_train_28442
A variant was discovered on Chromosome 21, affecting AIRE (autoimmune regulator). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Polyglandular autoimmune syndrome, type 1
GGATGAGCAAGGAGAATGGGGGTGTTTCAGGAGCAGACAGGGATCCTGTGCAAAGCTGGGCTTCTGTGCAACTTTCGCTTGCAGTTATTTAAATATTTTTGCTGTAAATACAGAACTGCAGGGGAGAGGGCAGGAAACCCAGCGAGCAGCAGCCCGGCCTGGCTGGGGACAGGATGTGTCTGTTGGAGCGGGGACCGGCAAGGCAGGCATGCAGGCAGGGGGCTTCCCTCTCGGGGTCTTCGGAAGGCGCAGTGCAGGGAGTGAGAGACGCCCAGGCCTGGGCAGCGAGAGGGCCCTGCTCCCCGCTCAAGGCTCCCAGGACATTCCACACAGGAGCCAGCCTGTTCCAACCCTGCACTGCCTGATACTCCACAGCCACCACTGAGATGGACCCCCTCCCCCTCAGCTCCCCATGACGTCCCCAGCACCTGACCCCAGGCTGACCACCTCGGCCACCACCTCTGGCCCCACCTTCCTCCCCAGGTTTGTTCCCAAACACCCCTAGAGTCTTTTCCGGAGCAATCTCAGACGTGCAGAACGCTCAGGGGGACCCTGGGCCTGAAGGCGGTAGGAGAAACCGAGACCGACCCCTGGTCTAGAGGAGAGGTGTCTGCCGCTCTCCATCCTGGACTCTGGCTGCCCAAAAGCAAACGGCACGCCTGCCCACGTGGGAATCTTGGTGGCGTCTCTCACTGCATCAGTTAGCCCCCAGCCCAGTGCTGCCTGGATTCAGGCTTCCTGGTACCTTCGTCCACCCTTCAGCCCTAATCCATGCTGGCCAGGTCATCTCGTTCTCTGGCTCAGTGGGAACACTCGTGCCCAGAGACCTCTCGTGGTTCTCTGCAGCCTGCACACAGGGCCTGCTTCCCTGGCTTGACCGCACAGACAAGGGGACTGTTACCAAGGCCTCCCACTGAGGCCACCCCCCCTCCAGGCCATGCCTGCGGGGCCACCACAGCCTCAGCATCATTGCAGGCCCCAGGCCTCTGCACCTGGTCTTGTTTTACTGGGGGCACTGTCCCCACTCACGTCCACCTGGGACCCTCGGCTCCTGTCCACTGCAGCTCCCCTCCCGGACACCTTCCCAGATGCCCCCGGAAGCTCCTGTCCAGGCCACAGCATCCCTCAGCCTCTGTCACTGGTCCTAGGAAGACCCTTTGGGAGCTCTCACTCAGGGCCACACTCAGGACCCCCGTTGTGGGGCTGGCCGCCTTCCTTCTAAAGCACCTGGAGGAAGGAAGGAGGGGGTCAATGCGAGCCTCAATCCCCAGGCGAGTGTGCCCCTTTTAAAGATGAGGGAACCGAGGCTCAGAGAAGGAAAGGACTTGCCTGGCGTCACACAGCTAGCCTAAGATGGTGAGGTCAGGAGCTCCCTGGCAACACCCAGGCTGCCGTACCGTCTCCTGCATCAGACTGAGCCTCCATCGGGCTCCTCCCACAGCCCCAGGCGGGCCCCTGAGTAGGGGCTCTCAGCTTGTGTGGAGGTCCCCCAGGAACACCACCCCGATCCAGCCTCCATGGAGGCTCTTGCCGGCCACTGGGAGGGGCCGGTGCACCCTGGGCAGCCCCTGCCAGGGCCCTGAGACCCGAGCCTCCCCGCCGAGGGCACCTGTCTCGGCTTTGCCCCATTCGAGCAGGGCCCTCGCCGAGGCAGGACAGGGCCACATTCGGAAGTGAGAGTTCTCTGAGTCCCGCACAGAGCGAGTCTCTGTCCCCAGCCCCCAAGGCAGCTGCCCTGGTGGGTGAGTCAGGCCAGGCCCGGAGACTTCCCGAGAGCGAGGGAGGGACAGCAGCGCCTCCATCACAGGGAAGTGTCCCTGCGGGAGGCCCTGGCCCTGATTGGGCGCCGGGGCGGAGCGGCCTTTGCTCTTTGCGTGGTCGCGGGGGTATAACAGCGGCGCGCGTGGCTCGCAGACCGGGGAGACGGGCGGGCGCACAGCCGGCGCGGAGGCCCCACAGCCCCGCCGGGACCCGAGGCCAAGCGAGGGGCTGCCAGTGTCCCGGGACCCACCGCGTCCGCCCCAGCCCCGGGTCCCCGCGCCCACCCCATGGCGACGGACGCGGCGCTACGCCGGCTTCTGAGGCTGCACCGCACGGAGATCGCGGTGGCCGTGGACAGCGCCTTCCCACTGCTGCACGCGCTGGCTGACCACGACGTGGTCCCCGAGGACAAGTTTCAGGTGGGCTCCCCGCCCGCCCCCCGCTGCCCCCAGGCCCTGTGAGCCAGGGATAGTCCCCGGGGAAGTTCCAGGAGGACCCCGCCCCTCCAGATCCCCAAGCCCCTCCAGCCTTCCCCAACTCCCTCCCCACAAGGAGCCAGGGGCGTCCCTGATGACAAGTTAGAAGTTGGTCCCCTTCCCCCAGCCGTCCCCACACCTCACCCCCAAGCCAAGGGAATGGCCTCCAGGTTCCCCCAGCCCCACCCTCAACACCCCTACACCACCACCTGACTCCACCACAAGCCGAGGAGATGGGCGTGGAGCTGTCCAGGTCGCCAGCGCCTCTGCCTGGGAGCTCCACCCTCTAGTCATGATGGAGATGGGCAGGCCGCAGGGTGTGGGGGACCATGGCAGGGACCCTCATGCCACCCCACTGCAGGAGACGCTTCATCTGAAGGAAAAGGAGGGCTGCCCCCAGGCCTTCCACGCCCTCCTGTCCTGGCTGCTGACCCAGGACTCCACAGCCATCCTGGACTTCTGGAGGGTGCTGTTCAAGGACTACAACCTGGAGCGCTATGGCCGGCTGCAGCCCATCCTGGACAGCTTCCCCAAAGGTGGGTCCTGGTGGACTCAGCCATGCTGGGGGCCTGGGGCAGCTGCTGTCACCTGCTCAGCCCAGCTGGACTGGAACCGGAGTGGTGTTTGAGGAGCCCGTGGGTGATGTTCCAGGACCGTCTTGGATCCTAAGAGGCAAAGGGGCCAGGCCTCACCTGTCTGGCCAAGGTGTCCAGTTCTGGGGCCCACCCTACCCCTGGAGAAAACCCTGAGGTTGGGACCCTGCTCCTGCCCCTGAGCTGCAGATGTGGACCTCAGCCAGCCCCGGAAGGGGAGGAAGCCCCCGGCCGTCCCCAAGGCTTTGGTACCGCCACCCAGACTCCCCACCAAGAGGAAGGCCTCAGAAGAGGCTCGAGCTGCCGCGCCAGCAGCCCTGACTCCAAGGGGCACCGCCAGCCCAGGTACCCTCCCTGCAGGGGAAGCCAGCCAGGGTCTCCAGTCTTCCCGGGCTTCCCCGGGAGCCCACGCCCCCTCCCCACCCGGGCTCCCACCCACTGGGTGTGGGGCCAGCCTGCCTGGGGCTGTGGGGGTCTCCTCTGGGTACTAGACCCACACACTGGACCAGCCTCTCAGCTCCCTCCTGCCTGAAGGCTGAGCTCCCCGGAGCTGGTGAAGTAGGCGGGCGGGTCTCATTTCCCTTTTACTGATGAGAAACCAGAGCCCGGCAAAGGGACTACCCAGCACTGGACCGCCCCCTCCACGCCCTCCCACCGCGGGCCCCTGCCCACCGGCACTCACCCCCACTGAGAGGGGAGGCCAGGCTGCCCCCAGCTCCCCCATTCAGGCTCTCAACTGAAGGCCAAGCCCCCCAAGAAGCCGGAGAGCAGCGCAGAGCAGCAGCGCCTTCCACTCGGGAACGGTGAGCGGGGCCCAGTGGGAGCGCCTCCCTTCTCCCTGGCCAGGGGCAAGGGGTCAGGGGTCAGAGCAGGGCCTGCCCTCTGAGACCCTGTCCTAGGGGCTGGGGACGTGCTGGCCTGGTGTGTCATTCCAAGGGCCTAAGCTGCACCACCAGACCCAGGAAGGGGACACCTTGGGTCTAAGCATGATCTTGCCAGTCGCCCCTGCCCCCACTGCACCCTGGTTCTGGGACCCCCTTCTCAGGCACCTTCTCTGCCCGTCCACTCCCTATCCTTCAGGACCAGCCTAGACATAGCTTCCTCCAGAAAATCATCCCTGGCCCCCAGCTGCATGCAGGCTGAACCCTTCCTGTCCCCTTCTCCTTCCTTCCCAGGGCACTGGACTCCAGAGACCCCCTATCTCCCTGAGGGCAGAGCCTAGGAACTCTGTGTCCCTCCCGGCACAATACAGGGCCCATGTCATGG
GGATGAGCAAGGAGAATGGGGGTGTTTCAGGAGCAGACAGGGATCCTGTGCAAAGCTGGGCTTCTGTGCAACTTTCGCTTGCAGTTATTTAAATATTTTTGCTGTAAATACAGAACTGCAGGGGAGAGGGCAGGAAACCCAGCGAGCAGCAGCCCGGCCTGGCTGGGGACAGGATGTGTCTGTTGGAGCGGGGACCGGCAAGGCAGGCATGCAGGCAGGGGGCTTCCCTCTCGGGGTCTTCGGAAGGCGCAGTGCAGGGAGTGAGAGACGCCCAGGCCTGGGCAGCGAGAGGGCCCTGCTCCCCGCTCAAGGCTCCCAGGACATTCCACACAGGAGCCAGCCTGTTCCAACCCTGCACTGCCTGATACTCCACAGCCACCACTGAGATGGACCCCCTCCCCCTCAGCTCCCCATGACGTCCCCAGCACCTGACCCCAGGCTGACCACCTCGGCCACCACCTCTGGCCCCACCTTCCTCCCCAGGTTTGTTCCCAAACACCCCTAGAGTCTTTTCCGGAGCAATCTCAGACGTGCAGAACGCTCAGGGGGACCCTGGGCCTGAAGGCGGTAGGAGAAACCGAGACCGACCCCTGGTCTAGAGGAGAGGTGTCTGCCGCTCTCCATCCTGGACTCTGGCTGCCCAAAAGCAAACGGCACGCCTGCCCACGTGGGAATCTTGGTGGCGTCTCTCACTGCATCAGTTAGCCCCCAGCCCAGTGCTGCCTGGATTCAGGCTTCCTGGTACCTTCGTCCACCCTTCAGCCCTAATCCATGCTGGCCAGGTCATCTCGTTCTCTGGCTCAGTGGGAACACTCGTGCCCAGAGACCTCTCGTGGTTCTCTGCAGCCTGCACACAGGGCCTGCTTCCCTGGCTTGACCGCACAGACAAGGGGACTGTTACCAAGGCCTCCCACTGAGGCCACCCCCCCTCCAGGCCATGCCTGCGGGGCCACCACAGCCTCAGCATCATTGCAGGCCCCAGGCCTCTGCACCTGGTCTTGTTTTACTGGGGGCACTGTCCCCACTCACGTCCACCTGGGACCCTCGGCTCCTGTCCACTGCAGCTCCCCTCCCGGACACCTTCCCAGATGCCCCCGGAAGCTCCTGTCCAGGCCACAGCATCCCTCAGCCTCTGTCACTGGTCCTAGGAAGACCCTTTGGGAGCTCTCACTCAGGGCCACACTCAGGACCCCCGTTGTGGGGCTGGCCGCCTTCCTTCTAAAGCACCTGGAGGAAGGAAGGAGGGGGTCAATGCGAGCCTCAATCCCCAGGCGAGTGTGCCCCTTTTAAAGATGAGGGAACCGAGGCTCAGAGAAGGAAAGGACTTGCCTGGCGTCACACAGCTAGCCTAAGATGGTGAGGTCAGGAGCTCCCTGGCAACACCCAGGCTGCCGTACCGTCTCCTGCATCAGACTGAGCCTCCATCGGGCTCCTCCCACAGCCCCAGGCGGGCCCCTGAGTAGGGGCTCTCAGCTTGTGTGGAGGTCCCCCAGGAACACCACCCCGATCCAGCCTCCATGGAGGCTCTTGCCGGCCACTGGGAGGGGCCGGTGCACCCTGGGCAGCCCCTGCCAGGGCCCTGAGACCCGAGCCTCCCCGCCGAGGGCACCTGTCTCGGCTTTGCCCCATTCGAGCAGGGCCCTCGCCGAGGCAGGACAGGGCCACATTCGGAAGTGAGAGTTCTCTGAGTCCCGCACAGAGCGAGTCTCTGTCCCCAGCCCCCAAGGCAGCTGCCCTGGTGGGTGAGTCAGGCCAGGCCCGGAGACTTCCCGAGAGCGAGGGAGGGACAGCAGCGCCTCCATCACAGGGAAGTGTCCCTGCGGGAGGCCCTGGCCCTGATTGGGCGCCGGGGCGGAGCGGCCTTTGCTCTTTGCGTGGTCGCGGGGGTATAACAGCGGCGCGCGTGGCTCGCAGACCGGGGAGACGGGCGGGCGCACAGCCGGCGCGGAGGCCCCACAGCCCCGCCGGGACCCGAGGCCAAGCGAGGGGCTGCCAGTGTCCCGGGACCCACCGCGTCCGCCCCAGCCCCGGGTCCCCGCGCCCACCCCTTGGCGACGGACGCGGCGCTACGCCGGCTTCTGAGGCTGCACCGCACGGAGATCGCGGTGGCCGTGGACAGCGCCTTCCCACTGCTGCACGCGCTGGCTGACCACGACGTGGTCCCCGAGGACAAGTTTCAGGTGGGCTCCCCGCCCGCCCCCCGCTGCCCCCAGGCCCTGTGAGCCAGGGATAGTCCCCGGGGAAGTTCCAGGAGGACCCCGCCCCTCCAGATCCCCAAGCCCCTCCAGCCTTCCCCAACTCCCTCCCCACAAGGAGCCAGGGGCGTCCCTGATGACAAGTTAGAAGTTGGTCCCCTTCCCCCAGCCGTCCCCACACCTCACCCCCAAGCCAAGGGAATGGCCTCCAGGTTCCCCCAGCCCCACCCTCAACACCCCTACACCACCACCTGACTCCACCACAAGCCGAGGAGATGGGCGTGGAGCTGTCCAGGTCGCCAGCGCCTCTGCCTGGGAGCTCCACCCTCTAGTCATGATGGAGATGGGCAGGCCGCAGGGTGTGGGGGACCATGGCAGGGACCCTCATGCCACCCCACTGCAGGAGACGCTTCATCTGAAGGAAAAGGAGGGCTGCCCCCAGGCCTTCCACGCCCTCCTGTCCTGGCTGCTGACCCAGGACTCCACAGCCATCCTGGACTTCTGGAGGGTGCTGTTCAAGGACTACAACCTGGAGCGCTATGGCCGGCTGCAGCCCATCCTGGACAGCTTCCCCAAAGGTGGGTCCTGGTGGACTCAGCCATGCTGGGGGCCTGGGGCAGCTGCTGTCACCTGCTCAGCCCAGCTGGACTGGAACCGGAGTGGTGTTTGAGGAGCCCGTGGGTGATGTTCCAGGACCGTCTTGGATCCTAAGAGGCAAAGGGGCCAGGCCTCACCTGTCTGGCCAAGGTGTCCAGTTCTGGGGCCCACCCTACCCCTGGAGAAAACCCTGAGGTTGGGACCCTGCTCCTGCCCCTGAGCTGCAGATGTGGACCTCAGCCAGCCCCGGAAGGGGAGGAAGCCCCCGGCCGTCCCCAAGGCTTTGGTACCGCCACCCAGACTCCCCACCAAGAGGAAGGCCTCAGAAGAGGCTCGAGCTGCCGCGCCAGCAGCCCTGACTCCAAGGGGCACCGCCAGCCCAGGTACCCTCCCTGCAGGGGAAGCCAGCCAGGGTCTCCAGTCTTCCCGGGCTTCCCCGGGAGCCCACGCCCCCTCCCCACCCGGGCTCCCACCCACTGGGTGTGGGGCCAGCCTGCCTGGGGCTGTGGGGGTCTCCTCTGGGTACTAGACCCACACACTGGACCAGCCTCTCAGCTCCCTCCTGCCTGAAGGCTGAGCTCCCCGGAGCTGGTGAAGTAGGCGGGCGGGTCTCATTTCCCTTTTACTGATGAGAAACCAGAGCCCGGCAAAGGGACTACCCAGCACTGGACCGCCCCCTCCACGCCCTCCCACCGCGGGCCCCTGCCCACCGGCACTCACCCCCACTGAGAGGGGAGGCCAGGCTGCCCCCAGCTCCCCCATTCAGGCTCTCAACTGAAGGCCAAGCCCCCCAAGAAGCCGGAGAGCAGCGCAGAGCAGCAGCGCCTTCCACTCGGGAACGGTGAGCGGGGCCCAGTGGGAGCGCCTCCCTTCTCCCTGGCCAGGGGCAAGGGGTCAGGGGTCAGAGCAGGGCCTGCCCTCTGAGACCCTGTCCTAGGGGCTGGGGACGTGCTGGCCTGGTGTGTCATTCCAAGGGCCTAAGCTGCACCACCAGACCCAGGAAGGGGACACCTTGGGTCTAAGCATGATCTTGCCAGTCGCCCCTGCCCCCACTGCACCCTGGTTCTGGGACCCCCTTCTCAGGCACCTTCTCTGCCCGTCCACTCCCTATCCTTCAGGACCAGCCTAGACATAGCTTCCTCCAGAAAATCATCCCTGGCCCCCAGCTGCATGCAGGCTGAACCCTTCCTGTCCCCTTCTCCTTCCTTCCCAGGGCACTGGACTCCAGAGACCCCCTATCTCCCTGAGGGCAGAGCCTAGGAACTCTGTGTCCCTCCCGGCACAATACAGGGCCCATGTCATGG
Task1_train_28443
This alteration in AIRE (autoimmune regulator) on Chromosome 21 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Polyglandular autoimmune syndrome, type 1
GATGAGCAAGGAGAATGGGGGTGTTTCAGGAGCAGACAGGGATCCTGTGCAAAGCTGGGCTTCTGTGCAACTTTCGCTTGCAGTTATTTAAATATTTTTGCTGTAAATACAGAACTGCAGGGGAGAGGGCAGGAAACCCAGCGAGCAGCAGCCCGGCCTGGCTGGGGACAGGATGTGTCTGTTGGAGCGGGGACCGGCAAGGCAGGCATGCAGGCAGGGGGCTTCCCTCTCGGGGTCTTCGGAAGGCGCAGTGCAGGGAGTGAGAGACGCCCAGGCCTGGGCAGCGAGAGGGCCCTGCTCCCCGCTCAAGGCTCCCAGGACATTCCACACAGGAGCCAGCCTGTTCCAACCCTGCACTGCCTGATACTCCACAGCCACCACTGAGATGGACCCCCTCCCCCTCAGCTCCCCATGACGTCCCCAGCACCTGACCCCAGGCTGACCACCTCGGCCACCACCTCTGGCCCCACCTTCCTCCCCAGGTTTGTTCCCAAACACCCCTAGAGTCTTTTCCGGAGCAATCTCAGACGTGCAGAACGCTCAGGGGGACCCTGGGCCTGAAGGCGGTAGGAGAAACCGAGACCGACCCCTGGTCTAGAGGAGAGGTGTCTGCCGCTCTCCATCCTGGACTCTGGCTGCCCAAAAGCAAACGGCACGCCTGCCCACGTGGGAATCTTGGTGGCGTCTCTCACTGCATCAGTTAGCCCCCAGCCCAGTGCTGCCTGGATTCAGGCTTCCTGGTACCTTCGTCCACCCTTCAGCCCTAATCCATGCTGGCCAGGTCATCTCGTTCTCTGGCTCAGTGGGAACACTCGTGCCCAGAGACCTCTCGTGGTTCTCTGCAGCCTGCACACAGGGCCTGCTTCCCTGGCTTGACCGCACAGACAAGGGGACTGTTACCAAGGCCTCCCACTGAGGCCACCCCCCCTCCAGGCCATGCCTGCGGGGCCACCACAGCCTCAGCATCATTGCAGGCCCCAGGCCTCTGCACCTGGTCTTGTTTTACTGGGGGCACTGTCCCCACTCACGTCCACCTGGGACCCTCGGCTCCTGTCCACTGCAGCTCCCCTCCCGGACACCTTCCCAGATGCCCCCGGAAGCTCCTGTCCAGGCCACAGCATCCCTCAGCCTCTGTCACTGGTCCTAGGAAGACCCTTTGGGAGCTCTCACTCAGGGCCACACTCAGGACCCCCGTTGTGGGGCTGGCCGCCTTCCTTCTAAAGCACCTGGAGGAAGGAAGGAGGGGGTCAATGCGAGCCTCAATCCCCAGGCGAGTGTGCCCCTTTTAAAGATGAGGGAACCGAGGCTCAGAGAAGGAAAGGACTTGCCTGGCGTCACACAGCTAGCCTAAGATGGTGAGGTCAGGAGCTCCCTGGCAACACCCAGGCTGCCGTACCGTCTCCTGCATCAGACTGAGCCTCCATCGGGCTCCTCCCACAGCCCCAGGCGGGCCCCTGAGTAGGGGCTCTCAGCTTGTGTGGAGGTCCCCCAGGAACACCACCCCGATCCAGCCTCCATGGAGGCTCTTGCCGGCCACTGGGAGGGGCCGGTGCACCCTGGGCAGCCCCTGCCAGGGCCCTGAGACCCGAGCCTCCCCGCCGAGGGCACCTGTCTCGGCTTTGCCCCATTCGAGCAGGGCCCTCGCCGAGGCAGGACAGGGCCACATTCGGAAGTGAGAGTTCTCTGAGTCCCGCACAGAGCGAGTCTCTGTCCCCAGCCCCCAAGGCAGCTGCCCTGGTGGGTGAGTCAGGCCAGGCCCGGAGACTTCCCGAGAGCGAGGGAGGGACAGCAGCGCCTCCATCACAGGGAAGTGTCCCTGCGGGAGGCCCTGGCCCTGATTGGGCGCCGGGGCGGAGCGGCCTTTGCTCTTTGCGTGGTCGCGGGGGTATAACAGCGGCGCGCGTGGCTCGCAGACCGGGGAGACGGGCGGGCGCACAGCCGGCGCGGAGGCCCCACAGCCCCGCCGGGACCCGAGGCCAAGCGAGGGGCTGCCAGTGTCCCGGGACCCACCGCGTCCGCCCCAGCCCCGGGTCCCCGCGCCCACCCCATGGCGACGGACGCGGCGCTACGCCGGCTTCTGAGGCTGCACCGCACGGAGATCGCGGTGGCCGTGGACAGCGCCTTCCCACTGCTGCACGCGCTGGCTGACCACGACGTGGTCCCCGAGGACAAGTTTCAGGTGGGCTCCCCGCCCGCCCCCCGCTGCCCCCAGGCCCTGTGAGCCAGGGATAGTCCCCGGGGAAGTTCCAGGAGGACCCCGCCCCTCCAGATCCCCAAGCCCCTCCAGCCTTCCCCAACTCCCTCCCCACAAGGAGCCAGGGGCGTCCCTGATGACAAGTTAGAAGTTGGTCCCCTTCCCCCAGCCGTCCCCACACCTCACCCCCAAGCCAAGGGAATGGCCTCCAGGTTCCCCCAGCCCCACCCTCAACACCCCTACACCACCACCTGACTCCACCACAAGCCGAGGAGATGGGCGTGGAGCTGTCCAGGTCGCCAGCGCCTCTGCCTGGGAGCTCCACCCTCTAGTCATGATGGAGATGGGCAGGCCGCAGGGTGTGGGGGACCATGGCAGGGACCCTCATGCCACCCCACTGCAGGAGACGCTTCATCTGAAGGAAAAGGAGGGCTGCCCCCAGGCCTTCCACGCCCTCCTGTCCTGGCTGCTGACCCAGGACTCCACAGCCATCCTGGACTTCTGGAGGGTGCTGTTCAAGGACTACAACCTGGAGCGCTATGGCCGGCTGCAGCCCATCCTGGACAGCTTCCCCAAAGGTGGGTCCTGGTGGACTCAGCCATGCTGGGGGCCTGGGGCAGCTGCTGTCACCTGCTCAGCCCAGCTGGACTGGAACCGGAGTGGTGTTTGAGGAGCCCGTGGGTGATGTTCCAGGACCGTCTTGGATCCTAAGAGGCAAAGGGGCCAGGCCTCACCTGTCTGGCCAAGGTGTCCAGTTCTGGGGCCCACCCTACCCCTGGAGAAAACCCTGAGGTTGGGACCCTGCTCCTGCCCCTGAGCTGCAGATGTGGACCTCAGCCAGCCCCGGAAGGGGAGGAAGCCCCCGGCCGTCCCCAAGGCTTTGGTACCGCCACCCAGACTCCCCACCAAGAGGAAGGCCTCAGAAGAGGCTCGAGCTGCCGCGCCAGCAGCCCTGACTCCAAGGGGCACCGCCAGCCCAGGTACCCTCCCTGCAGGGGAAGCCAGCCAGGGTCTCCAGTCTTCCCGGGCTTCCCCGGGAGCCCACGCCCCCTCCCCACCCGGGCTCCCACCCACTGGGTGTGGGGCCAGCCTGCCTGGGGCTGTGGGGGTCTCCTCTGGGTACTAGACCCACACACTGGACCAGCCTCTCAGCTCCCTCCTGCCTGAAGGCTGAGCTCCCCGGAGCTGGTGAAGTAGGCGGGCGGGTCTCATTTCCCTTTTACTGATGAGAAACCAGAGCCCGGCAAAGGGACTACCCAGCACTGGACCGCCCCCTCCACGCCCTCCCACCGCGGGCCCCTGCCCACCGGCACTCACCCCCACTGAGAGGGGAGGCCAGGCTGCCCCCAGCTCCCCCATTCAGGCTCTCAACTGAAGGCCAAGCCCCCCAAGAAGCCGGAGAGCAGCGCAGAGCAGCAGCGCCTTCCACTCGGGAACGGTGAGCGGGGCCCAGTGGGAGCGCCTCCCTTCTCCCTGGCCAGGGGCAAGGGGTCAGGGGTCAGAGCAGGGCCTGCCCTCTGAGACCCTGTCCTAGGGGCTGGGGACGTGCTGGCCTGGTGTGTCATTCCAAGGGCCTAAGCTGCACCACCAGACCCAGGAAGGGGACACCTTGGGTCTAAGCATGATCTTGCCAGTCGCCCCTGCCCCCACTGCACCCTGGTTCTGGGACCCCCTTCTCAGGCACCTTCTCTGCCCGTCCACTCCCTATCCTTCAGGACCAGCCTAGACATAGCTTCCTCCAGAAAATCATCCCTGGCCCCCAGCTGCATGCAGGCTGAACCCTTCCTGTCCCCTTCTCCTTCCTTCCCAGGGCACTGGACTCCAGAGACCCCCTATCTCCCTGAGGGCAGAGCCTAGGAACTCTGTGTCCCTCCCGGCACAATACAGGGCCCATGTCATGGG
GATGAGCAAGGAGAATGGGGGTGTTTCAGGAGCAGACAGGGATCCTGTGCAAAGCTGGGCTTCTGTGCAACTTTCGCTTGCAGTTATTTAAATATTTTTGCTGTAAATACAGAACTGCAGGGGAGAGGGCAGGAAACCCAGCGAGCAGCAGCCCGGCCTGGCTGGGGACAGGATGTGTCTGTTGGAGCGGGGACCGGCAAGGCAGGCATGCAGGCAGGGGGCTTCCCTCTCGGGGTCTTCGGAAGGCGCAGTGCAGGGAGTGAGAGACGCCCAGGCCTGGGCAGCGAGAGGGCCCTGCTCCCCGCTCAAGGCTCCCAGGACATTCCACACAGGAGCCAGCCTGTTCCAACCCTGCACTGCCTGATACTCCACAGCCACCACTGAGATGGACCCCCTCCCCCTCAGCTCCCCATGACGTCCCCAGCACCTGACCCCAGGCTGACCACCTCGGCCACCACCTCTGGCCCCACCTTCCTCCCCAGGTTTGTTCCCAAACACCCCTAGAGTCTTTTCCGGAGCAATCTCAGACGTGCAGAACGCTCAGGGGGACCCTGGGCCTGAAGGCGGTAGGAGAAACCGAGACCGACCCCTGGTCTAGAGGAGAGGTGTCTGCCGCTCTCCATCCTGGACTCTGGCTGCCCAAAAGCAAACGGCACGCCTGCCCACGTGGGAATCTTGGTGGCGTCTCTCACTGCATCAGTTAGCCCCCAGCCCAGTGCTGCCTGGATTCAGGCTTCCTGGTACCTTCGTCCACCCTTCAGCCCTAATCCATGCTGGCCAGGTCATCTCGTTCTCTGGCTCAGTGGGAACACTCGTGCCCAGAGACCTCTCGTGGTTCTCTGCAGCCTGCACACAGGGCCTGCTTCCCTGGCTTGACCGCACAGACAAGGGGACTGTTACCAAGGCCTCCCACTGAGGCCACCCCCCCTCCAGGCCATGCCTGCGGGGCCACCACAGCCTCAGCATCATTGCAGGCCCCAGGCCTCTGCACCTGGTCTTGTTTTACTGGGGGCACTGTCCCCACTCACGTCCACCTGGGACCCTCGGCTCCTGTCCACTGCAGCTCCCCTCCCGGACACCTTCCCAGATGCCCCCGGAAGCTCCTGTCCAGGCCACAGCATCCCTCAGCCTCTGTCACTGGTCCTAGGAAGACCCTTTGGGAGCTCTCACTCAGGGCCACACTCAGGACCCCCGTTGTGGGGCTGGCCGCCTTCCTTCTAAAGCACCTGGAGGAAGGAAGGAGGGGGTCAATGCGAGCCTCAATCCCCAGGCGAGTGTGCCCCTTTTAAAGATGAGGGAACCGAGGCTCAGAGAAGGAAAGGACTTGCCTGGCGTCACACAGCTAGCCTAAGATGGTGAGGTCAGGAGCTCCCTGGCAACACCCAGGCTGCCGTACCGTCTCCTGCATCAGACTGAGCCTCCATCGGGCTCCTCCCACAGCCCCAGGCGGGCCCCTGAGTAGGGGCTCTCAGCTTGTGTGGAGGTCCCCCAGGAACACCACCCCGATCCAGCCTCCATGGAGGCTCTTGCCGGCCACTGGGAGGGGCCGGTGCACCCTGGGCAGCCCCTGCCAGGGCCCTGAGACCCGAGCCTCCCCGCCGAGGGCACCTGTCTCGGCTTTGCCCCATTCGAGCAGGGCCCTCGCCGAGGCAGGACAGGGCCACATTCGGAAGTGAGAGTTCTCTGAGTCCCGCACAGAGCGAGTCTCTGTCCCCAGCCCCCAAGGCAGCTGCCCTGGTGGGTGAGTCAGGCCAGGCCCGGAGACTTCCCGAGAGCGAGGGAGGGACAGCAGCGCCTCCATCACAGGGAAGTGTCCCTGCGGGAGGCCCTGGCCCTGATTGGGCGCCGGGGCGGAGCGGCCTTTGCTCTTTGCGTGGTCGCGGGGGTATAACAGCGGCGCGCGTGGCTCGCAGACCGGGGAGACGGGCGGGCGCACAGCCGGCGCGGAGGCCCCACAGCCCCGCCGGGACCCGAGGCCAAGCGAGGGGCTGCCAGTGTCCCGGGACCCACCGCGTCCGCCCCAGCCCCGGGTCCCCGCGCCCACCCCAAGGCGACGGACGCGGCGCTACGCCGGCTTCTGAGGCTGCACCGCACGGAGATCGCGGTGGCCGTGGACAGCGCCTTCCCACTGCTGCACGCGCTGGCTGACCACGACGTGGTCCCCGAGGACAAGTTTCAGGTGGGCTCCCCGCCCGCCCCCCGCTGCCCCCAGGCCCTGTGAGCCAGGGATAGTCCCCGGGGAAGTTCCAGGAGGACCCCGCCCCTCCAGATCCCCAAGCCCCTCCAGCCTTCCCCAACTCCCTCCCCACAAGGAGCCAGGGGCGTCCCTGATGACAAGTTAGAAGTTGGTCCCCTTCCCCCAGCCGTCCCCACACCTCACCCCCAAGCCAAGGGAATGGCCTCCAGGTTCCCCCAGCCCCACCCTCAACACCCCTACACCACCACCTGACTCCACCACAAGCCGAGGAGATGGGCGTGGAGCTGTCCAGGTCGCCAGCGCCTCTGCCTGGGAGCTCCACCCTCTAGTCATGATGGAGATGGGCAGGCCGCAGGGTGTGGGGGACCATGGCAGGGACCCTCATGCCACCCCACTGCAGGAGACGCTTCATCTGAAGGAAAAGGAGGGCTGCCCCCAGGCCTTCCACGCCCTCCTGTCCTGGCTGCTGACCCAGGACTCCACAGCCATCCTGGACTTCTGGAGGGTGCTGTTCAAGGACTACAACCTGGAGCGCTATGGCCGGCTGCAGCCCATCCTGGACAGCTTCCCCAAAGGTGGGTCCTGGTGGACTCAGCCATGCTGGGGGCCTGGGGCAGCTGCTGTCACCTGCTCAGCCCAGCTGGACTGGAACCGGAGTGGTGTTTGAGGAGCCCGTGGGTGATGTTCCAGGACCGTCTTGGATCCTAAGAGGCAAAGGGGCCAGGCCTCACCTGTCTGGCCAAGGTGTCCAGTTCTGGGGCCCACCCTACCCCTGGAGAAAACCCTGAGGTTGGGACCCTGCTCCTGCCCCTGAGCTGCAGATGTGGACCTCAGCCAGCCCCGGAAGGGGAGGAAGCCCCCGGCCGTCCCCAAGGCTTTGGTACCGCCACCCAGACTCCCCACCAAGAGGAAGGCCTCAGAAGAGGCTCGAGCTGCCGCGCCAGCAGCCCTGACTCCAAGGGGCACCGCCAGCCCAGGTACCCTCCCTGCAGGGGAAGCCAGCCAGGGTCTCCAGTCTTCCCGGGCTTCCCCGGGAGCCCACGCCCCCTCCCCACCCGGGCTCCCACCCACTGGGTGTGGGGCCAGCCTGCCTGGGGCTGTGGGGGTCTCCTCTGGGTACTAGACCCACACACTGGACCAGCCTCTCAGCTCCCTCCTGCCTGAAGGCTGAGCTCCCCGGAGCTGGTGAAGTAGGCGGGCGGGTCTCATTTCCCTTTTACTGATGAGAAACCAGAGCCCGGCAAAGGGACTACCCAGCACTGGACCGCCCCCTCCACGCCCTCCCACCGCGGGCCCCTGCCCACCGGCACTCACCCCCACTGAGAGGGGAGGCCAGGCTGCCCCCAGCTCCCCCATTCAGGCTCTCAACTGAAGGCCAAGCCCCCCAAGAAGCCGGAGAGCAGCGCAGAGCAGCAGCGCCTTCCACTCGGGAACGGTGAGCGGGGCCCAGTGGGAGCGCCTCCCTTCTCCCTGGCCAGGGGCAAGGGGTCAGGGGTCAGAGCAGGGCCTGCCCTCTGAGACCCTGTCCTAGGGGCTGGGGACGTGCTGGCCTGGTGTGTCATTCCAAGGGCCTAAGCTGCACCACCAGACCCAGGAAGGGGACACCTTGGGTCTAAGCATGATCTTGCCAGTCGCCCCTGCCCCCACTGCACCCTGGTTCTGGGACCCCCTTCTCAGGCACCTTCTCTGCCCGTCCACTCCCTATCCTTCAGGACCAGCCTAGACATAGCTTCCTCCAGAAAATCATCCCTGGCCCCCAGCTGCATGCAGGCTGAACCCTTCCTGTCCCCTTCTCCTTCCTTCCCAGGGCACTGGACTCCAGAGACCCCCTATCTCCCTGAGGGCAGAGCCTAGGAACTCTGTGTCCCTCCCGGCACAATACAGGGCCCATGTCATGGG
Task1_train_28444
A variant affecting Chromosome 21, within the gene AIRE (autoimmune regulator), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Polyglandular autoimmune syndrome, type 1
GATGAGCAAGGAGAATGGGGGTGTTTCAGGAGCAGACAGGGATCCTGTGCAAAGCTGGGCTTCTGTGCAACTTTCGCTTGCAGTTATTTAAATATTTTTGCTGTAAATACAGAACTGCAGGGGAGAGGGCAGGAAACCCAGCGAGCAGCAGCCCGGCCTGGCTGGGGACAGGATGTGTCTGTTGGAGCGGGGACCGGCAAGGCAGGCATGCAGGCAGGGGGCTTCCCTCTCGGGGTCTTCGGAAGGCGCAGTGCAGGGAGTGAGAGACGCCCAGGCCTGGGCAGCGAGAGGGCCCTGCTCCCCGCTCAAGGCTCCCAGGACATTCCACACAGGAGCCAGCCTGTTCCAACCCTGCACTGCCTGATACTCCACAGCCACCACTGAGATGGACCCCCTCCCCCTCAGCTCCCCATGACGTCCCCAGCACCTGACCCCAGGCTGACCACCTCGGCCACCACCTCTGGCCCCACCTTCCTCCCCAGGTTTGTTCCCAAACACCCCTAGAGTCTTTTCCGGAGCAATCTCAGACGTGCAGAACGCTCAGGGGGACCCTGGGCCTGAAGGCGGTAGGAGAAACCGAGACCGACCCCTGGTCTAGAGGAGAGGTGTCTGCCGCTCTCCATCCTGGACTCTGGCTGCCCAAAAGCAAACGGCACGCCTGCCCACGTGGGAATCTTGGTGGCGTCTCTCACTGCATCAGTTAGCCCCCAGCCCAGTGCTGCCTGGATTCAGGCTTCCTGGTACCTTCGTCCACCCTTCAGCCCTAATCCATGCTGGCCAGGTCATCTCGTTCTCTGGCTCAGTGGGAACACTCGTGCCCAGAGACCTCTCGTGGTTCTCTGCAGCCTGCACACAGGGCCTGCTTCCCTGGCTTGACCGCACAGACAAGGGGACTGTTACCAAGGCCTCCCACTGAGGCCACCCCCCCTCCAGGCCATGCCTGCGGGGCCACCACAGCCTCAGCATCATTGCAGGCCCCAGGCCTCTGCACCTGGTCTTGTTTTACTGGGGGCACTGTCCCCACTCACGTCCACCTGGGACCCTCGGCTCCTGTCCACTGCAGCTCCCCTCCCGGACACCTTCCCAGATGCCCCCGGAAGCTCCTGTCCAGGCCACAGCATCCCTCAGCCTCTGTCACTGGTCCTAGGAAGACCCTTTGGGAGCTCTCACTCAGGGCCACACTCAGGACCCCCGTTGTGGGGCTGGCCGCCTTCCTTCTAAAGCACCTGGAGGAAGGAAGGAGGGGGTCAATGCGAGCCTCAATCCCCAGGCGAGTGTGCCCCTTTTAAAGATGAGGGAACCGAGGCTCAGAGAAGGAAAGGACTTGCCTGGCGTCACACAGCTAGCCTAAGATGGTGAGGTCAGGAGCTCCCTGGCAACACCCAGGCTGCCGTACCGTCTCCTGCATCAGACTGAGCCTCCATCGGGCTCCTCCCACAGCCCCAGGCGGGCCCCTGAGTAGGGGCTCTCAGCTTGTGTGGAGGTCCCCCAGGAACACCACCCCGATCCAGCCTCCATGGAGGCTCTTGCCGGCCACTGGGAGGGGCCGGTGCACCCTGGGCAGCCCCTGCCAGGGCCCTGAGACCCGAGCCTCCCCGCCGAGGGCACCTGTCTCGGCTTTGCCCCATTCGAGCAGGGCCCTCGCCGAGGCAGGACAGGGCCACATTCGGAAGTGAGAGTTCTCTGAGTCCCGCACAGAGCGAGTCTCTGTCCCCAGCCCCCAAGGCAGCTGCCCTGGTGGGTGAGTCAGGCCAGGCCCGGAGACTTCCCGAGAGCGAGGGAGGGACAGCAGCGCCTCCATCACAGGGAAGTGTCCCTGCGGGAGGCCCTGGCCCTGATTGGGCGCCGGGGCGGAGCGGCCTTTGCTCTTTGCGTGGTCGCGGGGGTATAACAGCGGCGCGCGTGGCTCGCAGACCGGGGAGACGGGCGGGCGCACAGCCGGCGCGGAGGCCCCACAGCCCCGCCGGGACCCGAGGCCAAGCGAGGGGCTGCCAGTGTCCCGGGACCCACCGCGTCCGCCCCAGCCCCGGGTCCCCGCGCCCACCCCATGGCGACGGACGCGGCGCTACGCCGGCTTCTGAGGCTGCACCGCACGGAGATCGCGGTGGCCGTGGACAGCGCCTTCCCACTGCTGCACGCGCTGGCTGACCACGACGTGGTCCCCGAGGACAAGTTTCAGGTGGGCTCCCCGCCCGCCCCCCGCTGCCCCCAGGCCCTGTGAGCCAGGGATAGTCCCCGGGGAAGTTCCAGGAGGACCCCGCCCCTCCAGATCCCCAAGCCCCTCCAGCCTTCCCCAACTCCCTCCCCACAAGGAGCCAGGGGCGTCCCTGATGACAAGTTAGAAGTTGGTCCCCTTCCCCCAGCCGTCCCCACACCTCACCCCCAAGCCAAGGGAATGGCCTCCAGGTTCCCCCAGCCCCACCCTCAACACCCCTACACCACCACCTGACTCCACCACAAGCCGAGGAGATGGGCGTGGAGCTGTCCAGGTCGCCAGCGCCTCTGCCTGGGAGCTCCACCCTCTAGTCATGATGGAGATGGGCAGGCCGCAGGGTGTGGGGGACCATGGCAGGGACCCTCATGCCACCCCACTGCAGGAGACGCTTCATCTGAAGGAAAAGGAGGGCTGCCCCCAGGCCTTCCACGCCCTCCTGTCCTGGCTGCTGACCCAGGACTCCACAGCCATCCTGGACTTCTGGAGGGTGCTGTTCAAGGACTACAACCTGGAGCGCTATGGCCGGCTGCAGCCCATCCTGGACAGCTTCCCCAAAGGTGGGTCCTGGTGGACTCAGCCATGCTGGGGGCCTGGGGCAGCTGCTGTCACCTGCTCAGCCCAGCTGGACTGGAACCGGAGTGGTGTTTGAGGAGCCCGTGGGTGATGTTCCAGGACCGTCTTGGATCCTAAGAGGCAAAGGGGCCAGGCCTCACCTGTCTGGCCAAGGTGTCCAGTTCTGGGGCCCACCCTACCCCTGGAGAAAACCCTGAGGTTGGGACCCTGCTCCTGCCCCTGAGCTGCAGATGTGGACCTCAGCCAGCCCCGGAAGGGGAGGAAGCCCCCGGCCGTCCCCAAGGCTTTGGTACCGCCACCCAGACTCCCCACCAAGAGGAAGGCCTCAGAAGAGGCTCGAGCTGCCGCGCCAGCAGCCCTGACTCCAAGGGGCACCGCCAGCCCAGGTACCCTCCCTGCAGGGGAAGCCAGCCAGGGTCTCCAGTCTTCCCGGGCTTCCCCGGGAGCCCACGCCCCCTCCCCACCCGGGCTCCCACCCACTGGGTGTGGGGCCAGCCTGCCTGGGGCTGTGGGGGTCTCCTCTGGGTACTAGACCCACACACTGGACCAGCCTCTCAGCTCCCTCCTGCCTGAAGGCTGAGCTCCCCGGAGCTGGTGAAGTAGGCGGGCGGGTCTCATTTCCCTTTTACTGATGAGAAACCAGAGCCCGGCAAAGGGACTACCCAGCACTGGACCGCCCCCTCCACGCCCTCCCACCGCGGGCCCCTGCCCACCGGCACTCACCCCCACTGAGAGGGGAGGCCAGGCTGCCCCCAGCTCCCCCATTCAGGCTCTCAACTGAAGGCCAAGCCCCCCAAGAAGCCGGAGAGCAGCGCAGAGCAGCAGCGCCTTCCACTCGGGAACGGTGAGCGGGGCCCAGTGGGAGCGCCTCCCTTCTCCCTGGCCAGGGGCAAGGGGTCAGGGGTCAGAGCAGGGCCTGCCCTCTGAGACCCTGTCCTAGGGGCTGGGGACGTGCTGGCCTGGTGTGTCATTCCAAGGGCCTAAGCTGCACCACCAGACCCAGGAAGGGGACACCTTGGGTCTAAGCATGATCTTGCCAGTCGCCCCTGCCCCCACTGCACCCTGGTTCTGGGACCCCCTTCTCAGGCACCTTCTCTGCCCGTCCACTCCCTATCCTTCAGGACCAGCCTAGACATAGCTTCCTCCAGAAAATCATCCCTGGCCCCCAGCTGCATGCAGGCTGAACCCTTCCTGTCCCCTTCTCCTTCCTTCCCAGGGCACTGGACTCCAGAGACCCCCTATCTCCCTGAGGGCAGAGCCTAGGAACTCTGTGTCCCTCCCGGCACAATACAGGGCCCATGTCATGGG
GATGAGCAAGGAGAATGGGGGTGTTTCAGGAGCAGACAGGGATCCTGTGCAAAGCTGGGCTTCTGTGCAACTTTCGCTTGCAGTTATTTAAATATTTTTGCTGTAAATACAGAACTGCAGGGGAGAGGGCAGGAAACCCAGCGAGCAGCAGCCCGGCCTGGCTGGGGACAGGATGTGTCTGTTGGAGCGGGGACCGGCAAGGCAGGCATGCAGGCAGGGGGCTTCCCTCTCGGGGTCTTCGGAAGGCGCAGTGCAGGGAGTGAGAGACGCCCAGGCCTGGGCAGCGAGAGGGCCCTGCTCCCCGCTCAAGGCTCCCAGGACATTCCACACAGGAGCCAGCCTGTTCCAACCCTGCACTGCCTGATACTCCACAGCCACCACTGAGATGGACCCCCTCCCCCTCAGCTCCCCATGACGTCCCCAGCACCTGACCCCAGGCTGACCACCTCGGCCACCACCTCTGGCCCCACCTTCCTCCCCAGGTTTGTTCCCAAACACCCCTAGAGTCTTTTCCGGAGCAATCTCAGACGTGCAGAACGCTCAGGGGGACCCTGGGCCTGAAGGCGGTAGGAGAAACCGAGACCGACCCCTGGTCTAGAGGAGAGGTGTCTGCCGCTCTCCATCCTGGACTCTGGCTGCCCAAAAGCAAACGGCACGCCTGCCCACGTGGGAATCTTGGTGGCGTCTCTCACTGCATCAGTTAGCCCCCAGCCCAGTGCTGCCTGGATTCAGGCTTCCTGGTACCTTCGTCCACCCTTCAGCCCTAATCCATGCTGGCCAGGTCATCTCGTTCTCTGGCTCAGTGGGAACACTCGTGCCCAGAGACCTCTCGTGGTTCTCTGCAGCCTGCACACAGGGCCTGCTTCCCTGGCTTGACCGCACAGACAAGGGGACTGTTACCAAGGCCTCCCACTGAGGCCACCCCCCCTCCAGGCCATGCCTGCGGGGCCACCACAGCCTCAGCATCATTGCAGGCCCCAGGCCTCTGCACCTGGTCTTGTTTTACTGGGGGCACTGTCCCCACTCACGTCCACCTGGGACCCTCGGCTCCTGTCCACTGCAGCTCCCCTCCCGGACACCTTCCCAGATGCCCCCGGAAGCTCCTGTCCAGGCCACAGCATCCCTCAGCCTCTGTCACTGGTCCTAGGAAGACCCTTTGGGAGCTCTCACTCAGGGCCACACTCAGGACCCCCGTTGTGGGGCTGGCCGCCTTCCTTCTAAAGCACCTGGAGGAAGGAAGGAGGGGGTCAATGCGAGCCTCAATCCCCAGGCGAGTGTGCCCCTTTTAAAGATGAGGGAACCGAGGCTCAGAGAAGGAAAGGACTTGCCTGGCGTCACACAGCTAGCCTAAGATGGTGAGGTCAGGAGCTCCCTGGCAACACCCAGGCTGCCGTACCGTCTCCTGCATCAGACTGAGCCTCCATCGGGCTCCTCCCACAGCCCCAGGCGGGCCCCTGAGTAGGGGCTCTCAGCTTGTGTGGAGGTCCCCCAGGAACACCACCCCGATCCAGCCTCCATGGAGGCTCTTGCCGGCCACTGGGAGGGGCCGGTGCACCCTGGGCAGCCCCTGCCAGGGCCCTGAGACCCGAGCCTCCCCGCCGAGGGCACCTGTCTCGGCTTTGCCCCATTCGAGCAGGGCCCTCGCCGAGGCAGGACAGGGCCACATTCGGAAGTGAGAGTTCTCTGAGTCCCGCACAGAGCGAGTCTCTGTCCCCAGCCCCCAAGGCAGCTGCCCTGGTGGGTGAGTCAGGCCAGGCCCGGAGACTTCCCGAGAGCGAGGGAGGGACAGCAGCGCCTCCATCACAGGGAAGTGTCCCTGCGGGAGGCCCTGGCCCTGATTGGGCGCCGGGGCGGAGCGGCCTTTGCTCTTTGCGTGGTCGCGGGGGTATAACAGCGGCGCGCGTGGCTCGCAGACCGGGGAGACGGGCGGGCGCACAGCCGGCGCGGAGGCCCCACAGCCCCGCCGGGACCCGAGGCCAAGCGAGGGGCTGCCAGTGTCCCGGGACCCACCGCGTCCGCCCCAGCCCCGGGTCCCCGCGCCCACCCCACGGCGACGGACGCGGCGCTACGCCGGCTTCTGAGGCTGCACCGCACGGAGATCGCGGTGGCCGTGGACAGCGCCTTCCCACTGCTGCACGCGCTGGCTGACCACGACGTGGTCCCCGAGGACAAGTTTCAGGTGGGCTCCCCGCCCGCCCCCCGCTGCCCCCAGGCCCTGTGAGCCAGGGATAGTCCCCGGGGAAGTTCCAGGAGGACCCCGCCCCTCCAGATCCCCAAGCCCCTCCAGCCTTCCCCAACTCCCTCCCCACAAGGAGCCAGGGGCGTCCCTGATGACAAGTTAGAAGTTGGTCCCCTTCCCCCAGCCGTCCCCACACCTCACCCCCAAGCCAAGGGAATGGCCTCCAGGTTCCCCCAGCCCCACCCTCAACACCCCTACACCACCACCTGACTCCACCACAAGCCGAGGAGATGGGCGTGGAGCTGTCCAGGTCGCCAGCGCCTCTGCCTGGGAGCTCCACCCTCTAGTCATGATGGAGATGGGCAGGCCGCAGGGTGTGGGGGACCATGGCAGGGACCCTCATGCCACCCCACTGCAGGAGACGCTTCATCTGAAGGAAAAGGAGGGCTGCCCCCAGGCCTTCCACGCCCTCCTGTCCTGGCTGCTGACCCAGGACTCCACAGCCATCCTGGACTTCTGGAGGGTGCTGTTCAAGGACTACAACCTGGAGCGCTATGGCCGGCTGCAGCCCATCCTGGACAGCTTCCCCAAAGGTGGGTCCTGGTGGACTCAGCCATGCTGGGGGCCTGGGGCAGCTGCTGTCACCTGCTCAGCCCAGCTGGACTGGAACCGGAGTGGTGTTTGAGGAGCCCGTGGGTGATGTTCCAGGACCGTCTTGGATCCTAAGAGGCAAAGGGGCCAGGCCTCACCTGTCTGGCCAAGGTGTCCAGTTCTGGGGCCCACCCTACCCCTGGAGAAAACCCTGAGGTTGGGACCCTGCTCCTGCCCCTGAGCTGCAGATGTGGACCTCAGCCAGCCCCGGAAGGGGAGGAAGCCCCCGGCCGTCCCCAAGGCTTTGGTACCGCCACCCAGACTCCCCACCAAGAGGAAGGCCTCAGAAGAGGCTCGAGCTGCCGCGCCAGCAGCCCTGACTCCAAGGGGCACCGCCAGCCCAGGTACCCTCCCTGCAGGGGAAGCCAGCCAGGGTCTCCAGTCTTCCCGGGCTTCCCCGGGAGCCCACGCCCCCTCCCCACCCGGGCTCCCACCCACTGGGTGTGGGGCCAGCCTGCCTGGGGCTGTGGGGGTCTCCTCTGGGTACTAGACCCACACACTGGACCAGCCTCTCAGCTCCCTCCTGCCTGAAGGCTGAGCTCCCCGGAGCTGGTGAAGTAGGCGGGCGGGTCTCATTTCCCTTTTACTGATGAGAAACCAGAGCCCGGCAAAGGGACTACCCAGCACTGGACCGCCCCCTCCACGCCCTCCCACCGCGGGCCCCTGCCCACCGGCACTCACCCCCACTGAGAGGGGAGGCCAGGCTGCCCCCAGCTCCCCCATTCAGGCTCTCAACTGAAGGCCAAGCCCCCCAAGAAGCCGGAGAGCAGCGCAGAGCAGCAGCGCCTTCCACTCGGGAACGGTGAGCGGGGCCCAGTGGGAGCGCCTCCCTTCTCCCTGGCCAGGGGCAAGGGGTCAGGGGTCAGAGCAGGGCCTGCCCTCTGAGACCCTGTCCTAGGGGCTGGGGACGTGCTGGCCTGGTGTGTCATTCCAAGGGCCTAAGCTGCACCACCAGACCCAGGAAGGGGACACCTTGGGTCTAAGCATGATCTTGCCAGTCGCCCCTGCCCCCACTGCACCCTGGTTCTGGGACCCCCTTCTCAGGCACCTTCTCTGCCCGTCCACTCCCTATCCTTCAGGACCAGCCTAGACATAGCTTCCTCCAGAAAATCATCCCTGGCCCCCAGCTGCATGCAGGCTGAACCCTTCCTGTCCCCTTCTCCTTCCTTCCCAGGGCACTGGACTCCAGAGACCCCCTATCTCCCTGAGGGCAGAGCCTAGGAACTCTGTGTCCCTCCCGGCACAATACAGGGCCCATGTCATGGG
Task1_train_28445
A variant found in Chromosome 21 affects AIRE (autoimmune regulator). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Polyglandular autoimmune syndrome, type 1
GATGAGCAAGGAGAATGGGGGTGTTTCAGGAGCAGACAGGGATCCTGTGCAAAGCTGGGCTTCTGTGCAACTTTCGCTTGCAGTTATTTAAATATTTTTGCTGTAAATACAGAACTGCAGGGGAGAGGGCAGGAAACCCAGCGAGCAGCAGCCCGGCCTGGCTGGGGACAGGATGTGTCTGTTGGAGCGGGGACCGGCAAGGCAGGCATGCAGGCAGGGGGCTTCCCTCTCGGGGTCTTCGGAAGGCGCAGTGCAGGGAGTGAGAGACGCCCAGGCCTGGGCAGCGAGAGGGCCCTGCTCCCCGCTCAAGGCTCCCAGGACATTCCACACAGGAGCCAGCCTGTTCCAACCCTGCACTGCCTGATACTCCACAGCCACCACTGAGATGGACCCCCTCCCCCTCAGCTCCCCATGACGTCCCCAGCACCTGACCCCAGGCTGACCACCTCGGCCACCACCTCTGGCCCCACCTTCCTCCCCAGGTTTGTTCCCAAACACCCCTAGAGTCTTTTCCGGAGCAATCTCAGACGTGCAGAACGCTCAGGGGGACCCTGGGCCTGAAGGCGGTAGGAGAAACCGAGACCGACCCCTGGTCTAGAGGAGAGGTGTCTGCCGCTCTCCATCCTGGACTCTGGCTGCCCAAAAGCAAACGGCACGCCTGCCCACGTGGGAATCTTGGTGGCGTCTCTCACTGCATCAGTTAGCCCCCAGCCCAGTGCTGCCTGGATTCAGGCTTCCTGGTACCTTCGTCCACCCTTCAGCCCTAATCCATGCTGGCCAGGTCATCTCGTTCTCTGGCTCAGTGGGAACACTCGTGCCCAGAGACCTCTCGTGGTTCTCTGCAGCCTGCACACAGGGCCTGCTTCCCTGGCTTGACCGCACAGACAAGGGGACTGTTACCAAGGCCTCCCACTGAGGCCACCCCCCCTCCAGGCCATGCCTGCGGGGCCACCACAGCCTCAGCATCATTGCAGGCCCCAGGCCTCTGCACCTGGTCTTGTTTTACTGGGGGCACTGTCCCCACTCACGTCCACCTGGGACCCTCGGCTCCTGTCCACTGCAGCTCCCCTCCCGGACACCTTCCCAGATGCCCCCGGAAGCTCCTGTCCAGGCCACAGCATCCCTCAGCCTCTGTCACTGGTCCTAGGAAGACCCTTTGGGAGCTCTCACTCAGGGCCACACTCAGGACCCCCGTTGTGGGGCTGGCCGCCTTCCTTCTAAAGCACCTGGAGGAAGGAAGGAGGGGGTCAATGCGAGCCTCAATCCCCAGGCGAGTGTGCCCCTTTTAAAGATGAGGGAACCGAGGCTCAGAGAAGGAAAGGACTTGCCTGGCGTCACACAGCTAGCCTAAGATGGTGAGGTCAGGAGCTCCCTGGCAACACCCAGGCTGCCGTACCGTCTCCTGCATCAGACTGAGCCTCCATCGGGCTCCTCCCACAGCCCCAGGCGGGCCCCTGAGTAGGGGCTCTCAGCTTGTGTGGAGGTCCCCCAGGAACACCACCCCGATCCAGCCTCCATGGAGGCTCTTGCCGGCCACTGGGAGGGGCCGGTGCACCCTGGGCAGCCCCTGCCAGGGCCCTGAGACCCGAGCCTCCCCGCCGAGGGCACCTGTCTCGGCTTTGCCCCATTCGAGCAGGGCCCTCGCCGAGGCAGGACAGGGCCACATTCGGAAGTGAGAGTTCTCTGAGTCCCGCACAGAGCGAGTCTCTGTCCCCAGCCCCCAAGGCAGCTGCCCTGGTGGGTGAGTCAGGCCAGGCCCGGAGACTTCCCGAGAGCGAGGGAGGGACAGCAGCGCCTCCATCACAGGGAAGTGTCCCTGCGGGAGGCCCTGGCCCTGATTGGGCGCCGGGGCGGAGCGGCCTTTGCTCTTTGCGTGGTCGCGGGGGTATAACAGCGGCGCGCGTGGCTCGCAGACCGGGGAGACGGGCGGGCGCACAGCCGGCGCGGAGGCCCCACAGCCCCGCCGGGACCCGAGGCCAAGCGAGGGGCTGCCAGTGTCCCGGGACCCACCGCGTCCGCCCCAGCCCCGGGTCCCCGCGCCCACCCCATGGCGACGGACGCGGCGCTACGCCGGCTTCTGAGGCTGCACCGCACGGAGATCGCGGTGGCCGTGGACAGCGCCTTCCCACTGCTGCACGCGCTGGCTGACCACGACGTGGTCCCCGAGGACAAGTTTCAGGTGGGCTCCCCGCCCGCCCCCCGCTGCCCCCAGGCCCTGTGAGCCAGGGATAGTCCCCGGGGAAGTTCCAGGAGGACCCCGCCCCTCCAGATCCCCAAGCCCCTCCAGCCTTCCCCAACTCCCTCCCCACAAGGAGCCAGGGGCGTCCCTGATGACAAGTTAGAAGTTGGTCCCCTTCCCCCAGCCGTCCCCACACCTCACCCCCAAGCCAAGGGAATGGCCTCCAGGTTCCCCCAGCCCCACCCTCAACACCCCTACACCACCACCTGACTCCACCACAAGCCGAGGAGATGGGCGTGGAGCTGTCCAGGTCGCCAGCGCCTCTGCCTGGGAGCTCCACCCTCTAGTCATGATGGAGATGGGCAGGCCGCAGGGTGTGGGGGACCATGGCAGGGACCCTCATGCCACCCCACTGCAGGAGACGCTTCATCTGAAGGAAAAGGAGGGCTGCCCCCAGGCCTTCCACGCCCTCCTGTCCTGGCTGCTGACCCAGGACTCCACAGCCATCCTGGACTTCTGGAGGGTGCTGTTCAAGGACTACAACCTGGAGCGCTATGGCCGGCTGCAGCCCATCCTGGACAGCTTCCCCAAAGGTGGGTCCTGGTGGACTCAGCCATGCTGGGGGCCTGGGGCAGCTGCTGTCACCTGCTCAGCCCAGCTGGACTGGAACCGGAGTGGTGTTTGAGGAGCCCGTGGGTGATGTTCCAGGACCGTCTTGGATCCTAAGAGGCAAAGGGGCCAGGCCTCACCTGTCTGGCCAAGGTGTCCAGTTCTGGGGCCCACCCTACCCCTGGAGAAAACCCTGAGGTTGGGACCCTGCTCCTGCCCCTGAGCTGCAGATGTGGACCTCAGCCAGCCCCGGAAGGGGAGGAAGCCCCCGGCCGTCCCCAAGGCTTTGGTACCGCCACCCAGACTCCCCACCAAGAGGAAGGCCTCAGAAGAGGCTCGAGCTGCCGCGCCAGCAGCCCTGACTCCAAGGGGCACCGCCAGCCCAGGTACCCTCCCTGCAGGGGAAGCCAGCCAGGGTCTCCAGTCTTCCCGGGCTTCCCCGGGAGCCCACGCCCCCTCCCCACCCGGGCTCCCACCCACTGGGTGTGGGGCCAGCCTGCCTGGGGCTGTGGGGGTCTCCTCTGGGTACTAGACCCACACACTGGACCAGCCTCTCAGCTCCCTCCTGCCTGAAGGCTGAGCTCCCCGGAGCTGGTGAAGTAGGCGGGCGGGTCTCATTTCCCTTTTACTGATGAGAAACCAGAGCCCGGCAAAGGGACTACCCAGCACTGGACCGCCCCCTCCACGCCCTCCCACCGCGGGCCCCTGCCCACCGGCACTCACCCCCACTGAGAGGGGAGGCCAGGCTGCCCCCAGCTCCCCCATTCAGGCTCTCAACTGAAGGCCAAGCCCCCCAAGAAGCCGGAGAGCAGCGCAGAGCAGCAGCGCCTTCCACTCGGGAACGGTGAGCGGGGCCCAGTGGGAGCGCCTCCCTTCTCCCTGGCCAGGGGCAAGGGGTCAGGGGTCAGAGCAGGGCCTGCCCTCTGAGACCCTGTCCTAGGGGCTGGGGACGTGCTGGCCTGGTGTGTCATTCCAAGGGCCTAAGCTGCACCACCAGACCCAGGAAGGGGACACCTTGGGTCTAAGCATGATCTTGCCAGTCGCCCCTGCCCCCACTGCACCCTGGTTCTGGGACCCCCTTCTCAGGCACCTTCTCTGCCCGTCCACTCCCTATCCTTCAGGACCAGCCTAGACATAGCTTCCTCCAGAAAATCATCCCTGGCCCCCAGCTGCATGCAGGCTGAACCCTTCCTGTCCCCTTCTCCTTCCTTCCCAGGGCACTGGACTCCAGAGACCCCCTATCTCCCTGAGGGCAGAGCCTAGGAACTCTGTGTCCCTCCCGGCACAATACAGGGCCCATGTCATGGG
GATGAGCAAGGAGAATGGGGGTGTTTCAGGAGCAGACAGGGATCCTGTGCAAAGCTGGGCTTCTGTGCAACTTTCGCTTGCAGTTATTTAAATATTTTTGCTGTAAATACAGAACTGCAGGGGAGAGGGCAGGAAACCCAGCGAGCAGCAGCCCGGCCTGGCTGGGGACAGGATGTGTCTGTTGGAGCGGGGACCGGCAAGGCAGGCATGCAGGCAGGGGGCTTCCCTCTCGGGGTCTTCGGAAGGCGCAGTGCAGGGAGTGAGAGACGCCCAGGCCTGGGCAGCGAGAGGGCCCTGCTCCCCGCTCAAGGCTCCCAGGACATTCCACACAGGAGCCAGCCTGTTCCAACCCTGCACTGCCTGATACTCCACAGCCACCACTGAGATGGACCCCCTCCCCCTCAGCTCCCCATGACGTCCCCAGCACCTGACCCCAGGCTGACCACCTCGGCCACCACCTCTGGCCCCACCTTCCTCCCCAGGTTTGTTCCCAAACACCCCTAGAGTCTTTTCCGGAGCAATCTCAGACGTGCAGAACGCTCAGGGGGACCCTGGGCCTGAAGGCGGTAGGAGAAACCGAGACCGACCCCTGGTCTAGAGGAGAGGTGTCTGCCGCTCTCCATCCTGGACTCTGGCTGCCCAAAAGCAAACGGCACGCCTGCCCACGTGGGAATCTTGGTGGCGTCTCTCACTGCATCAGTTAGCCCCCAGCCCAGTGCTGCCTGGATTCAGGCTTCCTGGTACCTTCGTCCACCCTTCAGCCCTAATCCATGCTGGCCAGGTCATCTCGTTCTCTGGCTCAGTGGGAACACTCGTGCCCAGAGACCTCTCGTGGTTCTCTGCAGCCTGCACACAGGGCCTGCTTCCCTGGCTTGACCGCACAGACAAGGGGACTGTTACCAAGGCCTCCCACTGAGGCCACCCCCCCTCCAGGCCATGCCTGCGGGGCCACCACAGCCTCAGCATCATTGCAGGCCCCAGGCCTCTGCACCTGGTCTTGTTTTACTGGGGGCACTGTCCCCACTCACGTCCACCTGGGACCCTCGGCTCCTGTCCACTGCAGCTCCCCTCCCGGACACCTTCCCAGATGCCCCCGGAAGCTCCTGTCCAGGCCACAGCATCCCTCAGCCTCTGTCACTGGTCCTAGGAAGACCCTTTGGGAGCTCTCACTCAGGGCCACACTCAGGACCCCCGTTGTGGGGCTGGCCGCCTTCCTTCTAAAGCACCTGGAGGAAGGAAGGAGGGGGTCAATGCGAGCCTCAATCCCCAGGCGAGTGTGCCCCTTTTAAAGATGAGGGAACCGAGGCTCAGAGAAGGAAAGGACTTGCCTGGCGTCACACAGCTAGCCTAAGATGGTGAGGTCAGGAGCTCCCTGGCAACACCCAGGCTGCCGTACCGTCTCCTGCATCAGACTGAGCCTCCATCGGGCTCCTCCCACAGCCCCAGGCGGGCCCCTGAGTAGGGGCTCTCAGCTTGTGTGGAGGTCCCCCAGGAACACCACCCCGATCCAGCCTCCATGGAGGCTCTTGCCGGCCACTGGGAGGGGCCGGTGCACCCTGGGCAGCCCCTGCCAGGGCCCTGAGACCCGAGCCTCCCCGCCGAGGGCACCTGTCTCGGCTTTGCCCCATTCGAGCAGGGCCCTCGCCGAGGCAGGACAGGGCCACATTCGGAAGTGAGAGTTCTCTGAGTCCCGCACAGAGCGAGTCTCTGTCCCCAGCCCCCAAGGCAGCTGCCCTGGTGGGTGAGTCAGGCCAGGCCCGGAGACTTCCCGAGAGCGAGGGAGGGACAGCAGCGCCTCCATCACAGGGAAGTGTCCCTGCGGGAGGCCCTGGCCCTGATTGGGCGCCGGGGCGGAGCGGCCTTTGCTCTTTGCGTGGTCGCGGGGGTATAACAGCGGCGCGCGTGGCTCGCAGACCGGGGAGACGGGCGGGCGCACAGCCGGCGCGGAGGCCCCACAGCCCCGCCGGGACCCGAGGCCAAGCGAGGGGCTGCCAGTGTCCCGGGACCCACCGCGTCCGCCCCAGCCCCGGGTCCCCGCGCCCACCCCAGGGCGACGGACGCGGCGCTACGCCGGCTTCTGAGGCTGCACCGCACGGAGATCGCGGTGGCCGTGGACAGCGCCTTCCCACTGCTGCACGCGCTGGCTGACCACGACGTGGTCCCCGAGGACAAGTTTCAGGTGGGCTCCCCGCCCGCCCCCCGCTGCCCCCAGGCCCTGTGAGCCAGGGATAGTCCCCGGGGAAGTTCCAGGAGGACCCCGCCCCTCCAGATCCCCAAGCCCCTCCAGCCTTCCCCAACTCCCTCCCCACAAGGAGCCAGGGGCGTCCCTGATGACAAGTTAGAAGTTGGTCCCCTTCCCCCAGCCGTCCCCACACCTCACCCCCAAGCCAAGGGAATGGCCTCCAGGTTCCCCCAGCCCCACCCTCAACACCCCTACACCACCACCTGACTCCACCACAAGCCGAGGAGATGGGCGTGGAGCTGTCCAGGTCGCCAGCGCCTCTGCCTGGGAGCTCCACCCTCTAGTCATGATGGAGATGGGCAGGCCGCAGGGTGTGGGGGACCATGGCAGGGACCCTCATGCCACCCCACTGCAGGAGACGCTTCATCTGAAGGAAAAGGAGGGCTGCCCCCAGGCCTTCCACGCCCTCCTGTCCTGGCTGCTGACCCAGGACTCCACAGCCATCCTGGACTTCTGGAGGGTGCTGTTCAAGGACTACAACCTGGAGCGCTATGGCCGGCTGCAGCCCATCCTGGACAGCTTCCCCAAAGGTGGGTCCTGGTGGACTCAGCCATGCTGGGGGCCTGGGGCAGCTGCTGTCACCTGCTCAGCCCAGCTGGACTGGAACCGGAGTGGTGTTTGAGGAGCCCGTGGGTGATGTTCCAGGACCGTCTTGGATCCTAAGAGGCAAAGGGGCCAGGCCTCACCTGTCTGGCCAAGGTGTCCAGTTCTGGGGCCCACCCTACCCCTGGAGAAAACCCTGAGGTTGGGACCCTGCTCCTGCCCCTGAGCTGCAGATGTGGACCTCAGCCAGCCCCGGAAGGGGAGGAAGCCCCCGGCCGTCCCCAAGGCTTTGGTACCGCCACCCAGACTCCCCACCAAGAGGAAGGCCTCAGAAGAGGCTCGAGCTGCCGCGCCAGCAGCCCTGACTCCAAGGGGCACCGCCAGCCCAGGTACCCTCCCTGCAGGGGAAGCCAGCCAGGGTCTCCAGTCTTCCCGGGCTTCCCCGGGAGCCCACGCCCCCTCCCCACCCGGGCTCCCACCCACTGGGTGTGGGGCCAGCCTGCCTGGGGCTGTGGGGGTCTCCTCTGGGTACTAGACCCACACACTGGACCAGCCTCTCAGCTCCCTCCTGCCTGAAGGCTGAGCTCCCCGGAGCTGGTGAAGTAGGCGGGCGGGTCTCATTTCCCTTTTACTGATGAGAAACCAGAGCCCGGCAAAGGGACTACCCAGCACTGGACCGCCCCCTCCACGCCCTCCCACCGCGGGCCCCTGCCCACCGGCACTCACCCCCACTGAGAGGGGAGGCCAGGCTGCCCCCAGCTCCCCCATTCAGGCTCTCAACTGAAGGCCAAGCCCCCCAAGAAGCCGGAGAGCAGCGCAGAGCAGCAGCGCCTTCCACTCGGGAACGGTGAGCGGGGCCCAGTGGGAGCGCCTCCCTTCTCCCTGGCCAGGGGCAAGGGGTCAGGGGTCAGAGCAGGGCCTGCCCTCTGAGACCCTGTCCTAGGGGCTGGGGACGTGCTGGCCTGGTGTGTCATTCCAAGGGCCTAAGCTGCACCACCAGACCCAGGAAGGGGACACCTTGGGTCTAAGCATGATCTTGCCAGTCGCCCCTGCCCCCACTGCACCCTGGTTCTGGGACCCCCTTCTCAGGCACCTTCTCTGCCCGTCCACTCCCTATCCTTCAGGACCAGCCTAGACATAGCTTCCTCCAGAAAATCATCCCTGGCCCCCAGCTGCATGCAGGCTGAACCCTTCCTGTCCCCTTCTCCTTCCTTCCCAGGGCACTGGACTCCAGAGACCCCCTATCTCCCTGAGGGCAGAGCCTAGGAACTCTGTGTCCCTCCCGGCACAATACAGGGCCCATGTCATGGG
Task1_train_28446
Here’s a variant in AIRE (autoimmune regulator) located on Chromosome 21. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Polyglandular autoimmune syndrome, type 1
TCCTGTGCAAAGCTGGGCTTCTGTGCAACTTTCGCTTGCAGTTATTTAAATATTTTTGCTGTAAATACAGAACTGCAGGGGAGAGGGCAGGAAACCCAGCGAGCAGCAGCCCGGCCTGGCTGGGGACAGGATGTGTCTGTTGGAGCGGGGACCGGCAAGGCAGGCATGCAGGCAGGGGGCTTCCCTCTCGGGGTCTTCGGAAGGCGCAGTGCAGGGAGTGAGAGACGCCCAGGCCTGGGCAGCGAGAGGGCCCTGCTCCCCGCTCAAGGCTCCCAGGACATTCCACACAGGAGCCAGCCTGTTCCAACCCTGCACTGCCTGATACTCCACAGCCACCACTGAGATGGACCCCCTCCCCCTCAGCTCCCCATGACGTCCCCAGCACCTGACCCCAGGCTGACCACCTCGGCCACCACCTCTGGCCCCACCTTCCTCCCCAGGTTTGTTCCCAAACACCCCTAGAGTCTTTTCCGGAGCAATCTCAGACGTGCAGAACGCTCAGGGGGACCCTGGGCCTGAAGGCGGTAGGAGAAACCGAGACCGACCCCTGGTCTAGAGGAGAGGTGTCTGCCGCTCTCCATCCTGGACTCTGGCTGCCCAAAAGCAAACGGCACGCCTGCCCACGTGGGAATCTTGGTGGCGTCTCTCACTGCATCAGTTAGCCCCCAGCCCAGTGCTGCCTGGATTCAGGCTTCCTGGTACCTTCGTCCACCCTTCAGCCCTAATCCATGCTGGCCAGGTCATCTCGTTCTCTGGCTCAGTGGGAACACTCGTGCCCAGAGACCTCTCGTGGTTCTCTGCAGCCTGCACACAGGGCCTGCTTCCCTGGCTTGACCGCACAGACAAGGGGACTGTTACCAAGGCCTCCCACTGAGGCCACCCCCCCTCCAGGCCATGCCTGCGGGGCCACCACAGCCTCAGCATCATTGCAGGCCCCAGGCCTCTGCACCTGGTCTTGTTTTACTGGGGGCACTGTCCCCACTCACGTCCACCTGGGACCCTCGGCTCCTGTCCACTGCAGCTCCCCTCCCGGACACCTTCCCAGATGCCCCCGGAAGCTCCTGTCCAGGCCACAGCATCCCTCAGCCTCTGTCACTGGTCCTAGGAAGACCCTTTGGGAGCTCTCACTCAGGGCCACACTCAGGACCCCCGTTGTGGGGCTGGCCGCCTTCCTTCTAAAGCACCTGGAGGAAGGAAGGAGGGGGTCAATGCGAGCCTCAATCCCCAGGCGAGTGTGCCCCTTTTAAAGATGAGGGAACCGAGGCTCAGAGAAGGAAAGGACTTGCCTGGCGTCACACAGCTAGCCTAAGATGGTGAGGTCAGGAGCTCCCTGGCAACACCCAGGCTGCCGTACCGTCTCCTGCATCAGACTGAGCCTCCATCGGGCTCCTCCCACAGCCCCAGGCGGGCCCCTGAGTAGGGGCTCTCAGCTTGTGTGGAGGTCCCCCAGGAACACCACCCCGATCCAGCCTCCATGGAGGCTCTTGCCGGCCACTGGGAGGGGCCGGTGCACCCTGGGCAGCCCCTGCCAGGGCCCTGAGACCCGAGCCTCCCCGCCGAGGGCACCTGTCTCGGCTTTGCCCCATTCGAGCAGGGCCCTCGCCGAGGCAGGACAGGGCCACATTCGGAAGTGAGAGTTCTCTGAGTCCCGCACAGAGCGAGTCTCTGTCCCCAGCCCCCAAGGCAGCTGCCCTGGTGGGTGAGTCAGGCCAGGCCCGGAGACTTCCCGAGAGCGAGGGAGGGACAGCAGCGCCTCCATCACAGGGAAGTGTCCCTGCGGGAGGCCCTGGCCCTGATTGGGCGCCGGGGCGGAGCGGCCTTTGCTCTTTGCGTGGTCGCGGGGGTATAACAGCGGCGCGCGTGGCTCGCAGACCGGGGAGACGGGCGGGCGCACAGCCGGCGCGGAGGCCCCACAGCCCCGCCGGGACCCGAGGCCAAGCGAGGGGCTGCCAGTGTCCCGGGACCCACCGCGTCCGCCCCAGCCCCGGGTCCCCGCGCCCACCCCATGGCGACGGACGCGGCGCTACGCCGGCTTCTGAGGCTGCACCGCACGGAGATCGCGGTGGCCGTGGACAGCGCCTTCCCACTGCTGCACGCGCTGGCTGACCACGACGTGGTCCCCGAGGACAAGTTTCAGGTGGGCTCCCCGCCCGCCCCCCGCTGCCCCCAGGCCCTGTGAGCCAGGGATAGTCCCCGGGGAAGTTCCAGGAGGACCCCGCCCCTCCAGATCCCCAAGCCCCTCCAGCCTTCCCCAACTCCCTCCCCACAAGGAGCCAGGGGCGTCCCTGATGACAAGTTAGAAGTTGGTCCCCTTCCCCCAGCCGTCCCCACACCTCACCCCCAAGCCAAGGGAATGGCCTCCAGGTTCCCCCAGCCCCACCCTCAACACCCCTACACCACCACCTGACTCCACCACAAGCCGAGGAGATGGGCGTGGAGCTGTCCAGGTCGCCAGCGCCTCTGCCTGGGAGCTCCACCCTCTAGTCATGATGGAGATGGGCAGGCCGCAGGGTGTGGGGGACCATGGCAGGGACCCTCATGCCACCCCACTGCAGGAGACGCTTCATCTGAAGGAAAAGGAGGGCTGCCCCCAGGCCTTCCACGCCCTCCTGTCCTGGCTGCTGACCCAGGACTCCACAGCCATCCTGGACTTCTGGAGGGTGCTGTTCAAGGACTACAACCTGGAGCGCTATGGCCGGCTGCAGCCCATCCTGGACAGCTTCCCCAAAGGTGGGTCCTGGTGGACTCAGCCATGCTGGGGGCCTGGGGCAGCTGCTGTCACCTGCTCAGCCCAGCTGGACTGGAACCGGAGTGGTGTTTGAGGAGCCCGTGGGTGATGTTCCAGGACCGTCTTGGATCCTAAGAGGCAAAGGGGCCAGGCCTCACCTGTCTGGCCAAGGTGTCCAGTTCTGGGGCCCACCCTACCCCTGGAGAAAACCCTGAGGTTGGGACCCTGCTCCTGCCCCTGAGCTGCAGATGTGGACCTCAGCCAGCCCCGGAAGGGGAGGAAGCCCCCGGCCGTCCCCAAGGCTTTGGTACCGCCACCCAGACTCCCCACCAAGAGGAAGGCCTCAGAAGAGGCTCGAGCTGCCGCGCCAGCAGCCCTGACTCCAAGGGGCACCGCCAGCCCAGGTACCCTCCCTGCAGGGGAAGCCAGCCAGGGTCTCCAGTCTTCCCGGGCTTCCCCGGGAGCCCACGCCCCCTCCCCACCCGGGCTCCCACCCACTGGGTGTGGGGCCAGCCTGCCTGGGGCTGTGGGGGTCTCCTCTGGGTACTAGACCCACACACTGGACCAGCCTCTCAGCTCCCTCCTGCCTGAAGGCTGAGCTCCCCGGAGCTGGTGAAGTAGGCGGGCGGGTCTCATTTCCCTTTTACTGATGAGAAACCAGAGCCCGGCAAAGGGACTACCCAGCACTGGACCGCCCCCTCCACGCCCTCCCACCGCGGGCCCCTGCCCACCGGCACTCACCCCCACTGAGAGGGGAGGCCAGGCTGCCCCCAGCTCCCCCATTCAGGCTCTCAACTGAAGGCCAAGCCCCCCAAGAAGCCGGAGAGCAGCGCAGAGCAGCAGCGCCTTCCACTCGGGAACGGTGAGCGGGGCCCAGTGGGAGCGCCTCCCTTCTCCCTGGCCAGGGGCAAGGGGTCAGGGGTCAGAGCAGGGCCTGCCCTCTGAGACCCTGTCCTAGGGGCTGGGGACGTGCTGGCCTGGTGTGTCATTCCAAGGGCCTAAGCTGCACCACCAGACCCAGGAAGGGGACACCTTGGGTCTAAGCATGATCTTGCCAGTCGCCCCTGCCCCCACTGCACCCTGGTTCTGGGACCCCCTTCTCAGGCACCTTCTCTGCCCGTCCACTCCCTATCCTTCAGGACCAGCCTAGACATAGCTTCCTCCAGAAAATCATCCCTGGCCCCCAGCTGCATGCAGGCTGAACCCTTCCTGTCCCCTTCTCCTTCCTTCCCAGGGCACTGGACTCCAGAGACCCCCTATCTCCCTGAGGGCAGAGCCTAGGAACTCTGTGTCCCTCCCGGCACAATACAGGGCCCATGTCATGGGGGGGTGGGTCTGGTCATTGGTCATGCCTTCCTATCCATTGTG
TCCTGTGCAAAGCTGGGCTTCTGTGCAACTTTCGCTTGCAGTTATTTAAATATTTTTGCTGTAAATACAGAACTGCAGGGGAGAGGGCAGGAAACCCAGCGAGCAGCAGCCCGGCCTGGCTGGGGACAGGATGTGTCTGTTGGAGCGGGGACCGGCAAGGCAGGCATGCAGGCAGGGGGCTTCCCTCTCGGGGTCTTCGGAAGGCGCAGTGCAGGGAGTGAGAGACGCCCAGGCCTGGGCAGCGAGAGGGCCCTGCTCCCCGCTCAAGGCTCCCAGGACATTCCACACAGGAGCCAGCCTGTTCCAACCCTGCACTGCCTGATACTCCACAGCCACCACTGAGATGGACCCCCTCCCCCTCAGCTCCCCATGACGTCCCCAGCACCTGACCCCAGGCTGACCACCTCGGCCACCACCTCTGGCCCCACCTTCCTCCCCAGGTTTGTTCCCAAACACCCCTAGAGTCTTTTCCGGAGCAATCTCAGACGTGCAGAACGCTCAGGGGGACCCTGGGCCTGAAGGCGGTAGGAGAAACCGAGACCGACCCCTGGTCTAGAGGAGAGGTGTCTGCCGCTCTCCATCCTGGACTCTGGCTGCCCAAAAGCAAACGGCACGCCTGCCCACGTGGGAATCTTGGTGGCGTCTCTCACTGCATCAGTTAGCCCCCAGCCCAGTGCTGCCTGGATTCAGGCTTCCTGGTACCTTCGTCCACCCTTCAGCCCTAATCCATGCTGGCCAGGTCATCTCGTTCTCTGGCTCAGTGGGAACACTCGTGCCCAGAGACCTCTCGTGGTTCTCTGCAGCCTGCACACAGGGCCTGCTTCCCTGGCTTGACCGCACAGACAAGGGGACTGTTACCAAGGCCTCCCACTGAGGCCACCCCCCCTCCAGGCCATGCCTGCGGGGCCACCACAGCCTCAGCATCATTGCAGGCCCCAGGCCTCTGCACCTGGTCTTGTTTTACTGGGGGCACTGTCCCCACTCACGTCCACCTGGGACCCTCGGCTCCTGTCCACTGCAGCTCCCCTCCCGGACACCTTCCCAGATGCCCCCGGAAGCTCCTGTCCAGGCCACAGCATCCCTCAGCCTCTGTCACTGGTCCTAGGAAGACCCTTTGGGAGCTCTCACTCAGGGCCACACTCAGGACCCCCGTTGTGGGGCTGGCCGCCTTCCTTCTAAAGCACCTGGAGGAAGGAAGGAGGGGGTCAATGCGAGCCTCAATCCCCAGGCGAGTGTGCCCCTTTTAAAGATGAGGGAACCGAGGCTCAGAGAAGGAAAGGACTTGCCTGGCGTCACACAGCTAGCCTAAGATGGTGAGGTCAGGAGCTCCCTGGCAACACCCAGGCTGCCGTACCGTCTCCTGCATCAGACTGAGCCTCCATCGGGCTCCTCCCACAGCCCCAGGCGGGCCCCTGAGTAGGGGCTCTCAGCTTGTGTGGAGGTCCCCCAGGAACACCACCCCGATCCAGCCTCCATGGAGGCTCTTGCCGGCCACTGGGAGGGGCCGGTGCACCCTGGGCAGCCCCTGCCAGGGCCCTGAGACCCGAGCCTCCCCGCCGAGGGCACCTGTCTCGGCTTTGCCCCATTCGAGCAGGGCCCTCGCCGAGGCAGGACAGGGCCACATTCGGAAGTGAGAGTTCTCTGAGTCCCGCACAGAGCGAGTCTCTGTCCCCAGCCCCCAAGGCAGCTGCCCTGGTGGGTGAGTCAGGCCAGGCCCGGAGACTTCCCGAGAGCGAGGGAGGGACAGCAGCGCCTCCATCACAGGGAAGTGTCCCTGCGGGAGGCCCTGGCCCTGATTGGGCGCCGGGGCGGAGCGGCCTTTGCTCTTTGCGTGGTCGCGGGGGTATAACAGCGGCGCGCGTGGCTCGCAGACCGGGGAGACGGGCGGGCGCACAGCCGGCGCGGAGGCCCCACAGCCCCGCCGGGACCCGAGGCCAAGCGAGGGGCTGCCAGTGTCCCGGGACCCACCGCGTCCGCCCCAGCCCCGGGTCCCCGCGCCCACCCCATGGCGACGGACGCGGCGCTACGCCGGCTTCTGAGGCTGCACCTCACGGAGATCGCGGTGGCCGTGGACAGCGCCTTCCCACTGCTGCACGCGCTGGCTGACCACGACGTGGTCCCCGAGGACAAGTTTCAGGTGGGCTCCCCGCCCGCCCCCCGCTGCCCCCAGGCCCTGTGAGCCAGGGATAGTCCCCGGGGAAGTTCCAGGAGGACCCCGCCCCTCCAGATCCCCAAGCCCCTCCAGCCTTCCCCAACTCCCTCCCCACAAGGAGCCAGGGGCGTCCCTGATGACAAGTTAGAAGTTGGTCCCCTTCCCCCAGCCGTCCCCACACCTCACCCCCAAGCCAAGGGAATGGCCTCCAGGTTCCCCCAGCCCCACCCTCAACACCCCTACACCACCACCTGACTCCACCACAAGCCGAGGAGATGGGCGTGGAGCTGTCCAGGTCGCCAGCGCCTCTGCCTGGGAGCTCCACCCTCTAGTCATGATGGAGATGGGCAGGCCGCAGGGTGTGGGGGACCATGGCAGGGACCCTCATGCCACCCCACTGCAGGAGACGCTTCATCTGAAGGAAAAGGAGGGCTGCCCCCAGGCCTTCCACGCCCTCCTGTCCTGGCTGCTGACCCAGGACTCCACAGCCATCCTGGACTTCTGGAGGGTGCTGTTCAAGGACTACAACCTGGAGCGCTATGGCCGGCTGCAGCCCATCCTGGACAGCTTCCCCAAAGGTGGGTCCTGGTGGACTCAGCCATGCTGGGGGCCTGGGGCAGCTGCTGTCACCTGCTCAGCCCAGCTGGACTGGAACCGGAGTGGTGTTTGAGGAGCCCGTGGGTGATGTTCCAGGACCGTCTTGGATCCTAAGAGGCAAAGGGGCCAGGCCTCACCTGTCTGGCCAAGGTGTCCAGTTCTGGGGCCCACCCTACCCCTGGAGAAAACCCTGAGGTTGGGACCCTGCTCCTGCCCCTGAGCTGCAGATGTGGACCTCAGCCAGCCCCGGAAGGGGAGGAAGCCCCCGGCCGTCCCCAAGGCTTTGGTACCGCCACCCAGACTCCCCACCAAGAGGAAGGCCTCAGAAGAGGCTCGAGCTGCCGCGCCAGCAGCCCTGACTCCAAGGGGCACCGCCAGCCCAGGTACCCTCCCTGCAGGGGAAGCCAGCCAGGGTCTCCAGTCTTCCCGGGCTTCCCCGGGAGCCCACGCCCCCTCCCCACCCGGGCTCCCACCCACTGGGTGTGGGGCCAGCCTGCCTGGGGCTGTGGGGGTCTCCTCTGGGTACTAGACCCACACACTGGACCAGCCTCTCAGCTCCCTCCTGCCTGAAGGCTGAGCTCCCCGGAGCTGGTGAAGTAGGCGGGCGGGTCTCATTTCCCTTTTACTGATGAGAAACCAGAGCCCGGCAAAGGGACTACCCAGCACTGGACCGCCCCCTCCACGCCCTCCCACCGCGGGCCCCTGCCCACCGGCACTCACCCCCACTGAGAGGGGAGGCCAGGCTGCCCCCAGCTCCCCCATTCAGGCTCTCAACTGAAGGCCAAGCCCCCCAAGAAGCCGGAGAGCAGCGCAGAGCAGCAGCGCCTTCCACTCGGGAACGGTGAGCGGGGCCCAGTGGGAGCGCCTCCCTTCTCCCTGGCCAGGGGCAAGGGGTCAGGGGTCAGAGCAGGGCCTGCCCTCTGAGACCCTGTCCTAGGGGCTGGGGACGTGCTGGCCTGGTGTGTCATTCCAAGGGCCTAAGCTGCACCACCAGACCCAGGAAGGGGACACCTTGGGTCTAAGCATGATCTTGCCAGTCGCCCCTGCCCCCACTGCACCCTGGTTCTGGGACCCCCTTCTCAGGCACCTTCTCTGCCCGTCCACTCCCTATCCTTCAGGACCAGCCTAGACATAGCTTCCTCCAGAAAATCATCCCTGGCCCCCAGCTGCATGCAGGCTGAACCCTTCCTGTCCCCTTCTCCTTCCTTCCCAGGGCACTGGACTCCAGAGACCCCCTATCTCCCTGAGGGCAGAGCCTAGGAACTCTGTGTCCCTCCCGGCACAATACAGGGCCCATGTCATGGGGGGGTGGGTCTGGTCATTGGTCATGCCTTCCTATCCATTGTG
Task1_train_28447
Here is a variant affecting AIRE (autoimmune regulator) on Chromosome 21. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Polyglandular autoimmune syndrome, type 1
TGTGCAAAGCTGGGCTTCTGTGCAACTTTCGCTTGCAGTTATTTAAATATTTTTGCTGTAAATACAGAACTGCAGGGGAGAGGGCAGGAAACCCAGCGAGCAGCAGCCCGGCCTGGCTGGGGACAGGATGTGTCTGTTGGAGCGGGGACCGGCAAGGCAGGCATGCAGGCAGGGGGCTTCCCTCTCGGGGTCTTCGGAAGGCGCAGTGCAGGGAGTGAGAGACGCCCAGGCCTGGGCAGCGAGAGGGCCCTGCTCCCCGCTCAAGGCTCCCAGGACATTCCACACAGGAGCCAGCCTGTTCCAACCCTGCACTGCCTGATACTCCACAGCCACCACTGAGATGGACCCCCTCCCCCTCAGCTCCCCATGACGTCCCCAGCACCTGACCCCAGGCTGACCACCTCGGCCACCACCTCTGGCCCCACCTTCCTCCCCAGGTTTGTTCCCAAACACCCCTAGAGTCTTTTCCGGAGCAATCTCAGACGTGCAGAACGCTCAGGGGGACCCTGGGCCTGAAGGCGGTAGGAGAAACCGAGACCGACCCCTGGTCTAGAGGAGAGGTGTCTGCCGCTCTCCATCCTGGACTCTGGCTGCCCAAAAGCAAACGGCACGCCTGCCCACGTGGGAATCTTGGTGGCGTCTCTCACTGCATCAGTTAGCCCCCAGCCCAGTGCTGCCTGGATTCAGGCTTCCTGGTACCTTCGTCCACCCTTCAGCCCTAATCCATGCTGGCCAGGTCATCTCGTTCTCTGGCTCAGTGGGAACACTCGTGCCCAGAGACCTCTCGTGGTTCTCTGCAGCCTGCACACAGGGCCTGCTTCCCTGGCTTGACCGCACAGACAAGGGGACTGTTACCAAGGCCTCCCACTGAGGCCACCCCCCCTCCAGGCCATGCCTGCGGGGCCACCACAGCCTCAGCATCATTGCAGGCCCCAGGCCTCTGCACCTGGTCTTGTTTTACTGGGGGCACTGTCCCCACTCACGTCCACCTGGGACCCTCGGCTCCTGTCCACTGCAGCTCCCCTCCCGGACACCTTCCCAGATGCCCCCGGAAGCTCCTGTCCAGGCCACAGCATCCCTCAGCCTCTGTCACTGGTCCTAGGAAGACCCTTTGGGAGCTCTCACTCAGGGCCACACTCAGGACCCCCGTTGTGGGGCTGGCCGCCTTCCTTCTAAAGCACCTGGAGGAAGGAAGGAGGGGGTCAATGCGAGCCTCAATCCCCAGGCGAGTGTGCCCCTTTTAAAGATGAGGGAACCGAGGCTCAGAGAAGGAAAGGACTTGCCTGGCGTCACACAGCTAGCCTAAGATGGTGAGGTCAGGAGCTCCCTGGCAACACCCAGGCTGCCGTACCGTCTCCTGCATCAGACTGAGCCTCCATCGGGCTCCTCCCACAGCCCCAGGCGGGCCCCTGAGTAGGGGCTCTCAGCTTGTGTGGAGGTCCCCCAGGAACACCACCCCGATCCAGCCTCCATGGAGGCTCTTGCCGGCCACTGGGAGGGGCCGGTGCACCCTGGGCAGCCCCTGCCAGGGCCCTGAGACCCGAGCCTCCCCGCCGAGGGCACCTGTCTCGGCTTTGCCCCATTCGAGCAGGGCCCTCGCCGAGGCAGGACAGGGCCACATTCGGAAGTGAGAGTTCTCTGAGTCCCGCACAGAGCGAGTCTCTGTCCCCAGCCCCCAAGGCAGCTGCCCTGGTGGGTGAGTCAGGCCAGGCCCGGAGACTTCCCGAGAGCGAGGGAGGGACAGCAGCGCCTCCATCACAGGGAAGTGTCCCTGCGGGAGGCCCTGGCCCTGATTGGGCGCCGGGGCGGAGCGGCCTTTGCTCTTTGCGTGGTCGCGGGGGTATAACAGCGGCGCGCGTGGCTCGCAGACCGGGGAGACGGGCGGGCGCACAGCCGGCGCGGAGGCCCCACAGCCCCGCCGGGACCCGAGGCCAAGCGAGGGGCTGCCAGTGTCCCGGGACCCACCGCGTCCGCCCCAGCCCCGGGTCCCCGCGCCCACCCCATGGCGACGGACGCGGCGCTACGCCGGCTTCTGAGGCTGCACCGCACGGAGATCGCGGTGGCCGTGGACAGCGCCTTCCCACTGCTGCACGCGCTGGCTGACCACGACGTGGTCCCCGAGGACAAGTTTCAGGTGGGCTCCCCGCCCGCCCCCCGCTGCCCCCAGGCCCTGTGAGCCAGGGATAGTCCCCGGGGAAGTTCCAGGAGGACCCCGCCCCTCCAGATCCCCAAGCCCCTCCAGCCTTCCCCAACTCCCTCCCCACAAGGAGCCAGGGGCGTCCCTGATGACAAGTTAGAAGTTGGTCCCCTTCCCCCAGCCGTCCCCACACCTCACCCCCAAGCCAAGGGAATGGCCTCCAGGTTCCCCCAGCCCCACCCTCAACACCCCTACACCACCACCTGACTCCACCACAAGCCGAGGAGATGGGCGTGGAGCTGTCCAGGTCGCCAGCGCCTCTGCCTGGGAGCTCCACCCTCTAGTCATGATGGAGATGGGCAGGCCGCAGGGTGTGGGGGACCATGGCAGGGACCCTCATGCCACCCCACTGCAGGAGACGCTTCATCTGAAGGAAAAGGAGGGCTGCCCCCAGGCCTTCCACGCCCTCCTGTCCTGGCTGCTGACCCAGGACTCCACAGCCATCCTGGACTTCTGGAGGGTGCTGTTCAAGGACTACAACCTGGAGCGCTATGGCCGGCTGCAGCCCATCCTGGACAGCTTCCCCAAAGGTGGGTCCTGGTGGACTCAGCCATGCTGGGGGCCTGGGGCAGCTGCTGTCACCTGCTCAGCCCAGCTGGACTGGAACCGGAGTGGTGTTTGAGGAGCCCGTGGGTGATGTTCCAGGACCGTCTTGGATCCTAAGAGGCAAAGGGGCCAGGCCTCACCTGTCTGGCCAAGGTGTCCAGTTCTGGGGCCCACCCTACCCCTGGAGAAAACCCTGAGGTTGGGACCCTGCTCCTGCCCCTGAGCTGCAGATGTGGACCTCAGCCAGCCCCGGAAGGGGAGGAAGCCCCCGGCCGTCCCCAAGGCTTTGGTACCGCCACCCAGACTCCCCACCAAGAGGAAGGCCTCAGAAGAGGCTCGAGCTGCCGCGCCAGCAGCCCTGACTCCAAGGGGCACCGCCAGCCCAGGTACCCTCCCTGCAGGGGAAGCCAGCCAGGGTCTCCAGTCTTCCCGGGCTTCCCCGGGAGCCCACGCCCCCTCCCCACCCGGGCTCCCACCCACTGGGTGTGGGGCCAGCCTGCCTGGGGCTGTGGGGGTCTCCTCTGGGTACTAGACCCACACACTGGACCAGCCTCTCAGCTCCCTCCTGCCTGAAGGCTGAGCTCCCCGGAGCTGGTGAAGTAGGCGGGCGGGTCTCATTTCCCTTTTACTGATGAGAAACCAGAGCCCGGCAAAGGGACTACCCAGCACTGGACCGCCCCCTCCACGCCCTCCCACCGCGGGCCCCTGCCCACCGGCACTCACCCCCACTGAGAGGGGAGGCCAGGCTGCCCCCAGCTCCCCCATTCAGGCTCTCAACTGAAGGCCAAGCCCCCCAAGAAGCCGGAGAGCAGCGCAGAGCAGCAGCGCCTTCCACTCGGGAACGGTGAGCGGGGCCCAGTGGGAGCGCCTCCCTTCTCCCTGGCCAGGGGCAAGGGGTCAGGGGTCAGAGCAGGGCCTGCCCTCTGAGACCCTGTCCTAGGGGCTGGGGACGTGCTGGCCTGGTGTGTCATTCCAAGGGCCTAAGCTGCACCACCAGACCCAGGAAGGGGACACCTTGGGTCTAAGCATGATCTTGCCAGTCGCCCCTGCCCCCACTGCACCCTGGTTCTGGGACCCCCTTCTCAGGCACCTTCTCTGCCCGTCCACTCCCTATCCTTCAGGACCAGCCTAGACATAGCTTCCTCCAGAAAATCATCCCTGGCCCCCAGCTGCATGCAGGCTGAACCCTTCCTGTCCCCTTCTCCTTCCTTCCCAGGGCACTGGACTCCAGAGACCCCCTATCTCCCTGAGGGCAGAGCCTAGGAACTCTGTGTCCCTCCCGGCACAATACAGGGCCCATGTCATGGGGGGGTGGGTCTGGTCATTGGTCATGCCTTCCTATCCATTGTGCCA
TGTGCAAAGCTGGGCTTCTGTGCAACTTTCGCTTGCAGTTATTTAAATATTTTTGCTGTAAATACAGAACTGCAGGGGAGAGGGCAGGAAACCCAGCGAGCAGCAGCCCGGCCTGGCTGGGGACAGGATGTGTCTGTTGGAGCGGGGACCGGCAAGGCAGGCATGCAGGCAGGGGGCTTCCCTCTCGGGGTCTTCGGAAGGCGCAGTGCAGGGAGTGAGAGACGCCCAGGCCTGGGCAGCGAGAGGGCCCTGCTCCCCGCTCAAGGCTCCCAGGACATTCCACACAGGAGCCAGCCTGTTCCAACCCTGCACTGCCTGATACTCCACAGCCACCACTGAGATGGACCCCCTCCCCCTCAGCTCCCCATGACGTCCCCAGCACCTGACCCCAGGCTGACCACCTCGGCCACCACCTCTGGCCCCACCTTCCTCCCCAGGTTTGTTCCCAAACACCCCTAGAGTCTTTTCCGGAGCAATCTCAGACGTGCAGAACGCTCAGGGGGACCCTGGGCCTGAAGGCGGTAGGAGAAACCGAGACCGACCCCTGGTCTAGAGGAGAGGTGTCTGCCGCTCTCCATCCTGGACTCTGGCTGCCCAAAAGCAAACGGCACGCCTGCCCACGTGGGAATCTTGGTGGCGTCTCTCACTGCATCAGTTAGCCCCCAGCCCAGTGCTGCCTGGATTCAGGCTTCCTGGTACCTTCGTCCACCCTTCAGCCCTAATCCATGCTGGCCAGGTCATCTCGTTCTCTGGCTCAGTGGGAACACTCGTGCCCAGAGACCTCTCGTGGTTCTCTGCAGCCTGCACACAGGGCCTGCTTCCCTGGCTTGACCGCACAGACAAGGGGACTGTTACCAAGGCCTCCCACTGAGGCCACCCCCCCTCCAGGCCATGCCTGCGGGGCCACCACAGCCTCAGCATCATTGCAGGCCCCAGGCCTCTGCACCTGGTCTTGTTTTACTGGGGGCACTGTCCCCACTCACGTCCACCTGGGACCCTCGGCTCCTGTCCACTGCAGCTCCCCTCCCGGACACCTTCCCAGATGCCCCCGGAAGCTCCTGTCCAGGCCACAGCATCCCTCAGCCTCTGTCACTGGTCCTAGGAAGACCCTTTGGGAGCTCTCACTCAGGGCCACACTCAGGACCCCCGTTGTGGGGCTGGCCGCCTTCCTTCTAAAGCACCTGGAGGAAGGAAGGAGGGGGTCAATGCGAGCCTCAATCCCCAGGCGAGTGTGCCCCTTTTAAAGATGAGGGAACCGAGGCTCAGAGAAGGAAAGGACTTGCCTGGCGTCACACAGCTAGCCTAAGATGGTGAGGTCAGGAGCTCCCTGGCAACACCCAGGCTGCCGTACCGTCTCCTGCATCAGACTGAGCCTCCATCGGGCTCCTCCCACAGCCCCAGGCGGGCCCCTGAGTAGGGGCTCTCAGCTTGTGTGGAGGTCCCCCAGGAACACCACCCCGATCCAGCCTCCATGGAGGCTCTTGCCGGCCACTGGGAGGGGCCGGTGCACCCTGGGCAGCCCCTGCCAGGGCCCTGAGACCCGAGCCTCCCCGCCGAGGGCACCTGTCTCGGCTTTGCCCCATTCGAGCAGGGCCCTCGCCGAGGCAGGACAGGGCCACATTCGGAAGTGAGAGTTCTCTGAGTCCCGCACAGAGCGAGTCTCTGTCCCCAGCCCCCAAGGCAGCTGCCCTGGTGGGTGAGTCAGGCCAGGCCCGGAGACTTCCCGAGAGCGAGGGAGGGACAGCAGCGCCTCCATCACAGGGAAGTGTCCCTGCGGGAGGCCCTGGCCCTGATTGGGCGCCGGGGCGGAGCGGCCTTTGCTCTTTGCGTGGTCGCGGGGGTATAACAGCGGCGCGCGTGGCTCGCAGACCGGGGAGACGGGCGGGCGCACAGCCGGCGCGGAGGCCCCACAGCCCCGCCGGGACCCGAGGCCAAGCGAGGGGCTGCCAGTGTCCCGGGACCCACCGCGTCCGCCCCAGCCCCGGGTCCCCGCGCCCACCCCATGGCGACGGACGCGGCGCTACGCCGGCTTCTGAGGCTGCACCGCATGGAGATCGCGGTGGCCGTGGACAGCGCCTTCCCACTGCTGCACGCGCTGGCTGACCACGACGTGGTCCCCGAGGACAAGTTTCAGGTGGGCTCCCCGCCCGCCCCCCGCTGCCCCCAGGCCCTGTGAGCCAGGGATAGTCCCCGGGGAAGTTCCAGGAGGACCCCGCCCCTCCAGATCCCCAAGCCCCTCCAGCCTTCCCCAACTCCCTCCCCACAAGGAGCCAGGGGCGTCCCTGATGACAAGTTAGAAGTTGGTCCCCTTCCCCCAGCCGTCCCCACACCTCACCCCCAAGCCAAGGGAATGGCCTCCAGGTTCCCCCAGCCCCACCCTCAACACCCCTACACCACCACCTGACTCCACCACAAGCCGAGGAGATGGGCGTGGAGCTGTCCAGGTCGCCAGCGCCTCTGCCTGGGAGCTCCACCCTCTAGTCATGATGGAGATGGGCAGGCCGCAGGGTGTGGGGGACCATGGCAGGGACCCTCATGCCACCCCACTGCAGGAGACGCTTCATCTGAAGGAAAAGGAGGGCTGCCCCCAGGCCTTCCACGCCCTCCTGTCCTGGCTGCTGACCCAGGACTCCACAGCCATCCTGGACTTCTGGAGGGTGCTGTTCAAGGACTACAACCTGGAGCGCTATGGCCGGCTGCAGCCCATCCTGGACAGCTTCCCCAAAGGTGGGTCCTGGTGGACTCAGCCATGCTGGGGGCCTGGGGCAGCTGCTGTCACCTGCTCAGCCCAGCTGGACTGGAACCGGAGTGGTGTTTGAGGAGCCCGTGGGTGATGTTCCAGGACCGTCTTGGATCCTAAGAGGCAAAGGGGCCAGGCCTCACCTGTCTGGCCAAGGTGTCCAGTTCTGGGGCCCACCCTACCCCTGGAGAAAACCCTGAGGTTGGGACCCTGCTCCTGCCCCTGAGCTGCAGATGTGGACCTCAGCCAGCCCCGGAAGGGGAGGAAGCCCCCGGCCGTCCCCAAGGCTTTGGTACCGCCACCCAGACTCCCCACCAAGAGGAAGGCCTCAGAAGAGGCTCGAGCTGCCGCGCCAGCAGCCCTGACTCCAAGGGGCACCGCCAGCCCAGGTACCCTCCCTGCAGGGGAAGCCAGCCAGGGTCTCCAGTCTTCCCGGGCTTCCCCGGGAGCCCACGCCCCCTCCCCACCCGGGCTCCCACCCACTGGGTGTGGGGCCAGCCTGCCTGGGGCTGTGGGGGTCTCCTCTGGGTACTAGACCCACACACTGGACCAGCCTCTCAGCTCCCTCCTGCCTGAAGGCTGAGCTCCCCGGAGCTGGTGAAGTAGGCGGGCGGGTCTCATTTCCCTTTTACTGATGAGAAACCAGAGCCCGGCAAAGGGACTACCCAGCACTGGACCGCCCCCTCCACGCCCTCCCACCGCGGGCCCCTGCCCACCGGCACTCACCCCCACTGAGAGGGGAGGCCAGGCTGCCCCCAGCTCCCCCATTCAGGCTCTCAACTGAAGGCCAAGCCCCCCAAGAAGCCGGAGAGCAGCGCAGAGCAGCAGCGCCTTCCACTCGGGAACGGTGAGCGGGGCCCAGTGGGAGCGCCTCCCTTCTCCCTGGCCAGGGGCAAGGGGTCAGGGGTCAGAGCAGGGCCTGCCCTCTGAGACCCTGTCCTAGGGGCTGGGGACGTGCTGGCCTGGTGTGTCATTCCAAGGGCCTAAGCTGCACCACCAGACCCAGGAAGGGGACACCTTGGGTCTAAGCATGATCTTGCCAGTCGCCCCTGCCCCCACTGCACCCTGGTTCTGGGACCCCCTTCTCAGGCACCTTCTCTGCCCGTCCACTCCCTATCCTTCAGGACCAGCCTAGACATAGCTTCCTCCAGAAAATCATCCCTGGCCCCCAGCTGCATGCAGGCTGAACCCTTCCTGTCCCCTTCTCCTTCCTTCCCAGGGCACTGGACTCCAGAGACCCCCTATCTCCCTGAGGGCAGAGCCTAGGAACTCTGTGTCCCTCCCGGCACAATACAGGGCCCATGTCATGGGGGGGTGGGTCTGGTCATTGGTCATGCCTTCCTATCCATTGTGCCA
Task1_train_28448
Given this context: Chromosome 21, gene AIRE (autoimmune regulator) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Polyglandular autoimmune syndrome, type 1
AACGGCACGCCTGCCCACGTGGGAATCTTGGTGGCGTCTCTCACTGCATCAGTTAGCCCCCAGCCCAGTGCTGCCTGGATTCAGGCTTCCTGGTACCTTCGTCCACCCTTCAGCCCTAATCCATGCTGGCCAGGTCATCTCGTTCTCTGGCTCAGTGGGAACACTCGTGCCCAGAGACCTCTCGTGGTTCTCTGCAGCCTGCACACAGGGCCTGCTTCCCTGGCTTGACCGCACAGACAAGGGGACTGTTACCAAGGCCTCCCACTGAGGCCACCCCCCCTCCAGGCCATGCCTGCGGGGCCACCACAGCCTCAGCATCATTGCAGGCCCCAGGCCTCTGCACCTGGTCTTGTTTTACTGGGGGCACTGTCCCCACTCACGTCCACCTGGGACCCTCGGCTCCTGTCCACTGCAGCTCCCCTCCCGGACACCTTCCCAGATGCCCCCGGAAGCTCCTGTCCAGGCCACAGCATCCCTCAGCCTCTGTCACTGGTCCTAGGAAGACCCTTTGGGAGCTCTCACTCAGGGCCACACTCAGGACCCCCGTTGTGGGGCTGGCCGCCTTCCTTCTAAAGCACCTGGAGGAAGGAAGGAGGGGGTCAATGCGAGCCTCAATCCCCAGGCGAGTGTGCCCCTTTTAAAGATGAGGGAACCGAGGCTCAGAGAAGGAAAGGACTTGCCTGGCGTCACACAGCTAGCCTAAGATGGTGAGGTCAGGAGCTCCCTGGCAACACCCAGGCTGCCGTACCGTCTCCTGCATCAGACTGAGCCTCCATCGGGCTCCTCCCACAGCCCCAGGCGGGCCCCTGAGTAGGGGCTCTCAGCTTGTGTGGAGGTCCCCCAGGAACACCACCCCGATCCAGCCTCCATGGAGGCTCTTGCCGGCCACTGGGAGGGGCCGGTGCACCCTGGGCAGCCCCTGCCAGGGCCCTGAGACCCGAGCCTCCCCGCCGAGGGCACCTGTCTCGGCTTTGCCCCATTCGAGCAGGGCCCTCGCCGAGGCAGGACAGGGCCACATTCGGAAGTGAGAGTTCTCTGAGTCCCGCACAGAGCGAGTCTCTGTCCCCAGCCCCCAAGGCAGCTGCCCTGGTGGGTGAGTCAGGCCAGGCCCGGAGACTTCCCGAGAGCGAGGGAGGGACAGCAGCGCCTCCATCACAGGGAAGTGTCCCTGCGGGAGGCCCTGGCCCTGATTGGGCGCCGGGGCGGAGCGGCCTTTGCTCTTTGCGTGGTCGCGGGGGTATAACAGCGGCGCGCGTGGCTCGCAGACCGGGGAGACGGGCGGGCGCACAGCCGGCGCGGAGGCCCCACAGCCCCGCCGGGACCCGAGGCCAAGCGAGGGGCTGCCAGTGTCCCGGGACCCACCGCGTCCGCCCCAGCCCCGGGTCCCCGCGCCCACCCCATGGCGACGGACGCGGCGCTACGCCGGCTTCTGAGGCTGCACCGCACGGAGATCGCGGTGGCCGTGGACAGCGCCTTCCCACTGCTGCACGCGCTGGCTGACCACGACGTGGTCCCCGAGGACAAGTTTCAGGTGGGCTCCCCGCCCGCCCCCCGCTGCCCCCAGGCCCTGTGAGCCAGGGATAGTCCCCGGGGAAGTTCCAGGAGGACCCCGCCCCTCCAGATCCCCAAGCCCCTCCAGCCTTCCCCAACTCCCTCCCCACAAGGAGCCAGGGGCGTCCCTGATGACAAGTTAGAAGTTGGTCCCCTTCCCCCAGCCGTCCCCACACCTCACCCCCAAGCCAAGGGAATGGCCTCCAGGTTCCCCCAGCCCCACCCTCAACACCCCTACACCACCACCTGACTCCACCACAAGCCGAGGAGATGGGCGTGGAGCTGTCCAGGTCGCCAGCGCCTCTGCCTGGGAGCTCCACCCTCTAGTCATGATGGAGATGGGCAGGCCGCAGGGTGTGGGGGACCATGGCAGGGACCCTCATGCCACCCCACTGCAGGAGACGCTTCATCTGAAGGAAAAGGAGGGCTGCCCCCAGGCCTTCCACGCCCTCCTGTCCTGGCTGCTGACCCAGGACTCCACAGCCATCCTGGACTTCTGGAGGGTGCTGTTCAAGGACTACAACCTGGAGCGCTATGGCCGGCTGCAGCCCATCCTGGACAGCTTCCCCAAAGGTGGGTCCTGGTGGACTCAGCCATGCTGGGGGCCTGGGGCAGCTGCTGTCACCTGCTCAGCCCAGCTGGACTGGAACCGGAGTGGTGTTTGAGGAGCCCGTGGGTGATGTTCCAGGACCGTCTTGGATCCTAAGAGGCAAAGGGGCCAGGCCTCACCTGTCTGGCCAAGGTGTCCAGTTCTGGGGCCCACCCTACCCCTGGAGAAAACCCTGAGGTTGGGACCCTGCTCCTGCCCCTGAGCTGCAGATGTGGACCTCAGCCAGCCCCGGAAGGGGAGGAAGCCCCCGGCCGTCCCCAAGGCTTTGGTACCGCCACCCAGACTCCCCACCAAGAGGAAGGCCTCAGAAGAGGCTCGAGCTGCCGCGCCAGCAGCCCTGACTCCAAGGGGCACCGCCAGCCCAGGTACCCTCCCTGCAGGGGAAGCCAGCCAGGGTCTCCAGTCTTCCCGGGCTTCCCCGGGAGCCCACGCCCCCTCCCCACCCGGGCTCCCACCCACTGGGTGTGGGGCCAGCCTGCCTGGGGCTGTGGGGGTCTCCTCTGGGTACTAGACCCACACACTGGACCAGCCTCTCAGCTCCCTCCTGCCTGAAGGCTGAGCTCCCCGGAGCTGGTGAAGTAGGCGGGCGGGTCTCATTTCCCTTTTACTGATGAGAAACCAGAGCCCGGCAAAGGGACTACCCAGCACTGGACCGCCCCCTCCACGCCCTCCCACCGCGGGCCCCTGCCCACCGGCACTCACCCCCACTGAGAGGGGAGGCCAGGCTGCCCCCAGCTCCCCCATTCAGGCTCTCAACTGAAGGCCAAGCCCCCCAAGAAGCCGGAGAGCAGCGCAGAGCAGCAGCGCCTTCCACTCGGGAACGGTGAGCGGGGCCCAGTGGGAGCGCCTCCCTTCTCCCTGGCCAGGGGCAAGGGGTCAGGGGTCAGAGCAGGGCCTGCCCTCTGAGACCCTGTCCTAGGGGCTGGGGACGTGCTGGCCTGGTGTGTCATTCCAAGGGCCTAAGCTGCACCACCAGACCCAGGAAGGGGACACCTTGGGTCTAAGCATGATCTTGCCAGTCGCCCCTGCCCCCACTGCACCCTGGTTCTGGGACCCCCTTCTCAGGCACCTTCTCTGCCCGTCCACTCCCTATCCTTCAGGACCAGCCTAGACATAGCTTCCTCCAGAAAATCATCCCTGGCCCCCAGCTGCATGCAGGCTGAACCCTTCCTGTCCCCTTCTCCTTCCTTCCCAGGGCACTGGACTCCAGAGACCCCCTATCTCCCTGAGGGCAGAGCCTAGGAACTCTGTGTCCCTCCCGGCACAATACAGGGCCCATGTCATGGGGGGGTGGGTCTGGTCATTGGTCATGCCTTCCTATCCATTGTGCCAGCTCTGCTGACACTGCCACCCCCCAGCACACGCACACTTGGGTGCACACACGAACACACACATTCTCATGTCTCTGCACTTACCTGTGGGCTGTCTGCACATGGCAGGGCTGGGTCCCCTCCTTGGCCTGCCCTGGCTGGAAGGAAAGGGCTCTGCAGCCCAGTGCTGCCTGCTTCTGGCATAGAGTATGTGCTTGGGAACAGTCTTCCCCACGGGTGACCCCAATGGGTGTTCCCTTTCCCAGGGATTCAGACCATGTCAGCTTCAGTCCAGAGAGCTGTGGCCATGTCCTCCGGGGACGTCCCGGGAGCCCGAGGGGCCGTGGAGGGGATCCTCATCCAGCAGGTGTTTGAGTCAGGTAGACGCTGTGGCGGGGAGATGGGGCTGATGGGGAGACCCAGGCTCCAAGATGGAAGGAGGACCACGCCCCTTTGCATCCTGGTGGTCCCACAGCAGACCGGACTGTTGCTCAGGTAGCCAGAGTTTCTGCCTGTGGTTCTGCTGACTTTGGAGGAGGAGGGTGAGCACTGAAGTCTCCCTGTCGGGGGACCTTCTGCAAGGCCAGCGGTCCAGGCCCACATCCCCACCCGGGATGTACAGCAC
AACGGCACGCCTGCCCACGTGGGAATCTTGGTGGCGTCTCTCACTGCATCAGTTAGCCCCCAGCCCAGTGCTGCCTGGATTCAGGCTTCCTGGTACCTTCGTCCACCCTTCAGCCCTAATCCATGCTGGCCAGGTCATCTCGTTCTCTGGCTCAGTGGGAACACTCGTGCCCAGAGACCTCTCGTGGTTCTCTGCAGCCTGCACACAGGGCCTGCTTCCCTGGCTTGACCGCACAGACAAGGGGACTGTTACCAAGGCCTCCCACTGAGGCCACCCCCCCTCCAGGCCATGCCTGCGGGGCCACCACAGCCTCAGCATCATTGCAGGCCCCAGGCCTCTGCACCTGGTCTTGTTTTACTGGGGGCACTGTCCCCACTCACGTCCACCTGGGACCCTCGGCTCCTGTCCACTGCAGCTCCCCTCCCGGACACCTTCCCAGATGCCCCCGGAAGCTCCTGTCCAGGCCACAGCATCCCTCAGCCTCTGTCACTGGTCCTAGGAAGACCCTTTGGGAGCTCTCACTCAGGGCCACACTCAGGACCCCCGTTGTGGGGCTGGCCGCCTTCCTTCTAAAGCACCTGGAGGAAGGAAGGAGGGGGTCAATGCGAGCCTCAATCCCCAGGCGAGTGTGCCCCTTTTAAAGATGAGGGAACCGAGGCTCAGAGAAGGAAAGGACTTGCCTGGCGTCACACAGCTAGCCTAAGATGGTGAGGTCAGGAGCTCCCTGGCAACACCCAGGCTGCCGTACCGTCTCCTGCATCAGACTGAGCCTCCATCGGGCTCCTCCCACAGCCCCAGGCGGGCCCCTGAGTAGGGGCTCTCAGCTTGTGTGGAGGTCCCCCAGGAACACCACCCCGATCCAGCCTCCATGGAGGCTCTTGCCGGCCACTGGGAGGGGCCGGTGCACCCTGGGCAGCCCCTGCCAGGGCCCTGAGACCCGAGCCTCCCCGCCGAGGGCACCTGTCTCGGCTTTGCCCCATTCGAGCAGGGCCCTCGCCGAGGCAGGACAGGGCCACATTCGGAAGTGAGAGTTCTCTGAGTCCCGCACAGAGCGAGTCTCTGTCCCCAGCCCCCAAGGCAGCTGCCCTGGTGGGTGAGTCAGGCCAGGCCCGGAGACTTCCCGAGAGCGAGGGAGGGACAGCAGCGCCTCCATCACAGGGAAGTGTCCCTGCGGGAGGCCCTGGCCCTGATTGGGCGCCGGGGCGGAGCGGCCTTTGCTCTTTGCGTGGTCGCGGGGGTATAACAGCGGCGCGCGTGGCTCGCAGACCGGGGAGACGGGCGGGCGCACAGCCGGCGCGGAGGCCCCACAGCCCCGCCGGGACCCGAGGCCAAGCGAGGGGCTGCCAGTGTCCCGGGACCCACCGCGTCCGCCCCAGCCCCGGGTCCCCGCGCCCACCCCATGGCGACGGACGCGGCGCTACGCCGGCTTCTGAGGCTGCACCGCACGGAGATCGCGGTGGCCGTGGACAGCGCCTTCCCACTGCTGCACGCGCTGGCTGACCACGACGTGGTCCCCGAGGACAAGTTTCAGGTGGGCTCCCCGCCCGCCCCCCGCTGCCCCCAGGCCCTGTGAGCCAGGGATAGTCCCCGGGGAAGTTCCAGGAGGACCCCGCCCCTCCAGATCCCCAAGCCCCTCCAGCCTTCCCCAACTCCCTCCCCACAAGGAGCCAGGGGCGTCCCTGATGACAAGTTAGAAGTTGGTCCCCTTCCCCCAGCCGTCCCCACACCTCACCCCCAAGCCAAGGGAATGGCCTCCAGGTTCCCCCAGCCCCACCCTCAACACCCCTACACCACCACCTGACTCCACCACAAGCCGAGGAGATGGGCGTGGAGCTGTCCAGGTCGCCAGCGCCTCTGCCTGGGAGCTCCACCCTCTAGTCATGATGGAGATGGGCAGGCCGCAGGGTGTGGGGGACCATGGCAGGGACCCTCATGCCACCCCACTGCAGGAGACGCTTCATCTGAAGGAAAAGGAGGGCTGCCCCCAGGCCTTCCACGCCCTCCTGTCCTGGCTGCTGACCCAGGACTCCACAGCCATCCTGGACTTCCGGAGGGTGCTGTTCAAGGACTACAACCTGGAGCGCTATGGCCGGCTGCAGCCCATCCTGGACAGCTTCCCCAAAGGTGGGTCCTGGTGGACTCAGCCATGCTGGGGGCCTGGGGCAGCTGCTGTCACCTGCTCAGCCCAGCTGGACTGGAACCGGAGTGGTGTTTGAGGAGCCCGTGGGTGATGTTCCAGGACCGTCTTGGATCCTAAGAGGCAAAGGGGCCAGGCCTCACCTGTCTGGCCAAGGTGTCCAGTTCTGGGGCCCACCCTACCCCTGGAGAAAACCCTGAGGTTGGGACCCTGCTCCTGCCCCTGAGCTGCAGATGTGGACCTCAGCCAGCCCCGGAAGGGGAGGAAGCCCCCGGCCGTCCCCAAGGCTTTGGTACCGCCACCCAGACTCCCCACCAAGAGGAAGGCCTCAGAAGAGGCTCGAGCTGCCGCGCCAGCAGCCCTGACTCCAAGGGGCACCGCCAGCCCAGGTACCCTCCCTGCAGGGGAAGCCAGCCAGGGTCTCCAGTCTTCCCGGGCTTCCCCGGGAGCCCACGCCCCCTCCCCACCCGGGCTCCCACCCACTGGGTGTGGGGCCAGCCTGCCTGGGGCTGTGGGGGTCTCCTCTGGGTACTAGACCCACACACTGGACCAGCCTCTCAGCTCCCTCCTGCCTGAAGGCTGAGCTCCCCGGAGCTGGTGAAGTAGGCGGGCGGGTCTCATTTCCCTTTTACTGATGAGAAACCAGAGCCCGGCAAAGGGACTACCCAGCACTGGACCGCCCCCTCCACGCCCTCCCACCGCGGGCCCCTGCCCACCGGCACTCACCCCCACTGAGAGGGGAGGCCAGGCTGCCCCCAGCTCCCCCATTCAGGCTCTCAACTGAAGGCCAAGCCCCCCAAGAAGCCGGAGAGCAGCGCAGAGCAGCAGCGCCTTCCACTCGGGAACGGTGAGCGGGGCCCAGTGGGAGCGCCTCCCTTCTCCCTGGCCAGGGGCAAGGGGTCAGGGGTCAGAGCAGGGCCTGCCCTCTGAGACCCTGTCCTAGGGGCTGGGGACGTGCTGGCCTGGTGTGTCATTCCAAGGGCCTAAGCTGCACCACCAGACCCAGGAAGGGGACACCTTGGGTCTAAGCATGATCTTGCCAGTCGCCCCTGCCCCCACTGCACCCTGGTTCTGGGACCCCCTTCTCAGGCACCTTCTCTGCCCGTCCACTCCCTATCCTTCAGGACCAGCCTAGACATAGCTTCCTCCAGAAAATCATCCCTGGCCCCCAGCTGCATGCAGGCTGAACCCTTCCTGTCCCCTTCTCCTTCCTTCCCAGGGCACTGGACTCCAGAGACCCCCTATCTCCCTGAGGGCAGAGCCTAGGAACTCTGTGTCCCTCCCGGCACAATACAGGGCCCATGTCATGGGGGGGTGGGTCTGGTCATTGGTCATGCCTTCCTATCCATTGTGCCAGCTCTGCTGACACTGCCACCCCCCAGCACACGCACACTTGGGTGCACACACGAACACACACATTCTCATGTCTCTGCACTTACCTGTGGGCTGTCTGCACATGGCAGGGCTGGGTCCCCTCCTTGGCCTGCCCTGGCTGGAAGGAAAGGGCTCTGCAGCCCAGTGCTGCCTGCTTCTGGCATAGAGTATGTGCTTGGGAACAGTCTTCCCCACGGGTGACCCCAATGGGTGTTCCCTTTCCCAGGGATTCAGACCATGTCAGCTTCAGTCCAGAGAGCTGTGGCCATGTCCTCCGGGGACGTCCCGGGAGCCCGAGGGGCCGTGGAGGGGATCCTCATCCAGCAGGTGTTTGAGTCAGGTAGACGCTGTGGCGGGGAGATGGGGCTGATGGGGAGACCCAGGCTCCAAGATGGAAGGAGGACCACGCCCCTTTGCATCCTGGTGGTCCCACAGCAGACCGGACTGTTGCTCAGGTAGCCAGAGTTTCTGCCTGTGGTTCTGCTGACTTTGGAGGAGGAGGGTGAGCACTGAAGTCTCCCTGTCGGGGGACCTTCTGCAAGGCCAGCGGTCCAGGCCCACATCCCCACCCGGGATGTACAGCAC
Task1_train_28449
A variant was discovered on Chromosome 21, affecting AIRE (autoimmune regulator). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Polyglandular autoimmune syndrome, type 1
CGCCTGCCCACGTGGGAATCTTGGTGGCGTCTCTCACTGCATCAGTTAGCCCCCAGCCCAGTGCTGCCTGGATTCAGGCTTCCTGGTACCTTCGTCCACCCTTCAGCCCTAATCCATGCTGGCCAGGTCATCTCGTTCTCTGGCTCAGTGGGAACACTCGTGCCCAGAGACCTCTCGTGGTTCTCTGCAGCCTGCACACAGGGCCTGCTTCCCTGGCTTGACCGCACAGACAAGGGGACTGTTACCAAGGCCTCCCACTGAGGCCACCCCCCCTCCAGGCCATGCCTGCGGGGCCACCACAGCCTCAGCATCATTGCAGGCCCCAGGCCTCTGCACCTGGTCTTGTTTTACTGGGGGCACTGTCCCCACTCACGTCCACCTGGGACCCTCGGCTCCTGTCCACTGCAGCTCCCCTCCCGGACACCTTCCCAGATGCCCCCGGAAGCTCCTGTCCAGGCCACAGCATCCCTCAGCCTCTGTCACTGGTCCTAGGAAGACCCTTTGGGAGCTCTCACTCAGGGCCACACTCAGGACCCCCGTTGTGGGGCTGGCCGCCTTCCTTCTAAAGCACCTGGAGGAAGGAAGGAGGGGGTCAATGCGAGCCTCAATCCCCAGGCGAGTGTGCCCCTTTTAAAGATGAGGGAACCGAGGCTCAGAGAAGGAAAGGACTTGCCTGGCGTCACACAGCTAGCCTAAGATGGTGAGGTCAGGAGCTCCCTGGCAACACCCAGGCTGCCGTACCGTCTCCTGCATCAGACTGAGCCTCCATCGGGCTCCTCCCACAGCCCCAGGCGGGCCCCTGAGTAGGGGCTCTCAGCTTGTGTGGAGGTCCCCCAGGAACACCACCCCGATCCAGCCTCCATGGAGGCTCTTGCCGGCCACTGGGAGGGGCCGGTGCACCCTGGGCAGCCCCTGCCAGGGCCCTGAGACCCGAGCCTCCCCGCCGAGGGCACCTGTCTCGGCTTTGCCCCATTCGAGCAGGGCCCTCGCCGAGGCAGGACAGGGCCACATTCGGAAGTGAGAGTTCTCTGAGTCCCGCACAGAGCGAGTCTCTGTCCCCAGCCCCCAAGGCAGCTGCCCTGGTGGGTGAGTCAGGCCAGGCCCGGAGACTTCCCGAGAGCGAGGGAGGGACAGCAGCGCCTCCATCACAGGGAAGTGTCCCTGCGGGAGGCCCTGGCCCTGATTGGGCGCCGGGGCGGAGCGGCCTTTGCTCTTTGCGTGGTCGCGGGGGTATAACAGCGGCGCGCGTGGCTCGCAGACCGGGGAGACGGGCGGGCGCACAGCCGGCGCGGAGGCCCCACAGCCCCGCCGGGACCCGAGGCCAAGCGAGGGGCTGCCAGTGTCCCGGGACCCACCGCGTCCGCCCCAGCCCCGGGTCCCCGCGCCCACCCCATGGCGACGGACGCGGCGCTACGCCGGCTTCTGAGGCTGCACCGCACGGAGATCGCGGTGGCCGTGGACAGCGCCTTCCCACTGCTGCACGCGCTGGCTGACCACGACGTGGTCCCCGAGGACAAGTTTCAGGTGGGCTCCCCGCCCGCCCCCCGCTGCCCCCAGGCCCTGTGAGCCAGGGATAGTCCCCGGGGAAGTTCCAGGAGGACCCCGCCCCTCCAGATCCCCAAGCCCCTCCAGCCTTCCCCAACTCCCTCCCCACAAGGAGCCAGGGGCGTCCCTGATGACAAGTTAGAAGTTGGTCCCCTTCCCCCAGCCGTCCCCACACCTCACCCCCAAGCCAAGGGAATGGCCTCCAGGTTCCCCCAGCCCCACCCTCAACACCCCTACACCACCACCTGACTCCACCACAAGCCGAGGAGATGGGCGTGGAGCTGTCCAGGTCGCCAGCGCCTCTGCCTGGGAGCTCCACCCTCTAGTCATGATGGAGATGGGCAGGCCGCAGGGTGTGGGGGACCATGGCAGGGACCCTCATGCCACCCCACTGCAGGAGACGCTTCATCTGAAGGAAAAGGAGGGCTGCCCCCAGGCCTTCCACGCCCTCCTGTCCTGGCTGCTGACCCAGGACTCCACAGCCATCCTGGACTTCTGGAGGGTGCTGTTCAAGGACTACAACCTGGAGCGCTATGGCCGGCTGCAGCCCATCCTGGACAGCTTCCCCAAAGGTGGGTCCTGGTGGACTCAGCCATGCTGGGGGCCTGGGGCAGCTGCTGTCACCTGCTCAGCCCAGCTGGACTGGAACCGGAGTGGTGTTTGAGGAGCCCGTGGGTGATGTTCCAGGACCGTCTTGGATCCTAAGAGGCAAAGGGGCCAGGCCTCACCTGTCTGGCCAAGGTGTCCAGTTCTGGGGCCCACCCTACCCCTGGAGAAAACCCTGAGGTTGGGACCCTGCTCCTGCCCCTGAGCTGCAGATGTGGACCTCAGCCAGCCCCGGAAGGGGAGGAAGCCCCCGGCCGTCCCCAAGGCTTTGGTACCGCCACCCAGACTCCCCACCAAGAGGAAGGCCTCAGAAGAGGCTCGAGCTGCCGCGCCAGCAGCCCTGACTCCAAGGGGCACCGCCAGCCCAGGTACCCTCCCTGCAGGGGAAGCCAGCCAGGGTCTCCAGTCTTCCCGGGCTTCCCCGGGAGCCCACGCCCCCTCCCCACCCGGGCTCCCACCCACTGGGTGTGGGGCCAGCCTGCCTGGGGCTGTGGGGGTCTCCTCTGGGTACTAGACCCACACACTGGACCAGCCTCTCAGCTCCCTCCTGCCTGAAGGCTGAGCTCCCCGGAGCTGGTGAAGTAGGCGGGCGGGTCTCATTTCCCTTTTACTGATGAGAAACCAGAGCCCGGCAAAGGGACTACCCAGCACTGGACCGCCCCCTCCACGCCCTCCCACCGCGGGCCCCTGCCCACCGGCACTCACCCCCACTGAGAGGGGAGGCCAGGCTGCCCCCAGCTCCCCCATTCAGGCTCTCAACTGAAGGCCAAGCCCCCCAAGAAGCCGGAGAGCAGCGCAGAGCAGCAGCGCCTTCCACTCGGGAACGGTGAGCGGGGCCCAGTGGGAGCGCCTCCCTTCTCCCTGGCCAGGGGCAAGGGGTCAGGGGTCAGAGCAGGGCCTGCCCTCTGAGACCCTGTCCTAGGGGCTGGGGACGTGCTGGCCTGGTGTGTCATTCCAAGGGCCTAAGCTGCACCACCAGACCCAGGAAGGGGACACCTTGGGTCTAAGCATGATCTTGCCAGTCGCCCCTGCCCCCACTGCACCCTGGTTCTGGGACCCCCTTCTCAGGCACCTTCTCTGCCCGTCCACTCCCTATCCTTCAGGACCAGCCTAGACATAGCTTCCTCCAGAAAATCATCCCTGGCCCCCAGCTGCATGCAGGCTGAACCCTTCCTGTCCCCTTCTCCTTCCTTCCCAGGGCACTGGACTCCAGAGACCCCCTATCTCCCTGAGGGCAGAGCCTAGGAACTCTGTGTCCCTCCCGGCACAATACAGGGCCCATGTCATGGGGGGGTGGGTCTGGTCATTGGTCATGCCTTCCTATCCATTGTGCCAGCTCTGCTGACACTGCCACCCCCCAGCACACGCACACTTGGGTGCACACACGAACACACACATTCTCATGTCTCTGCACTTACCTGTGGGCTGTCTGCACATGGCAGGGCTGGGTCCCCTCCTTGGCCTGCCCTGGCTGGAAGGAAAGGGCTCTGCAGCCCAGTGCTGCCTGCTTCTGGCATAGAGTATGTGCTTGGGAACAGTCTTCCCCACGGGTGACCCCAATGGGTGTTCCCTTTCCCAGGGATTCAGACCATGTCAGCTTCAGTCCAGAGAGCTGTGGCCATGTCCTCCGGGGACGTCCCGGGAGCCCGAGGGGCCGTGGAGGGGATCCTCATCCAGCAGGTGTTTGAGTCAGGTAGACGCTGTGGCGGGGAGATGGGGCTGATGGGGAGACCCAGGCTCCAAGATGGAAGGAGGACCACGCCCCTTTGCATCCTGGTGGTCCCACAGCAGACCGGACTGTTGCTCAGGTAGCCAGAGTTTCTGCCTGTGGTTCTGCTGACTTTGGAGGAGGAGGGTGAGCACTGAAGTCTCCCTGTCGGGGGACCTTCTGCAAGGCCAGCGGTCCAGGCCCACATCCCCACCCGGGATGTACAGCACTCCCCAG
CGCCTGCCCACGTGGGAATCTTGGTGGCGTCTCTCACTGCATCAGTTAGCCCCCAGCCCAGTGCTGCCTGGATTCAGGCTTCCTGGTACCTTCGTCCACCCTTCAGCCCTAATCCATGCTGGCCAGGTCATCTCGTTCTCTGGCTCAGTGGGAACACTCGTGCCCAGAGACCTCTCGTGGTTCTCTGCAGCCTGCACACAGGGCCTGCTTCCCTGGCTTGACCGCACAGACAAGGGGACTGTTACCAAGGCCTCCCACTGAGGCCACCCCCCCTCCAGGCCATGCCTGCGGGGCCACCACAGCCTCAGCATCATTGCAGGCCCCAGGCCTCTGCACCTGGTCTTGTTTTACTGGGGGCACTGTCCCCACTCACGTCCACCTGGGACCCTCGGCTCCTGTCCACTGCAGCTCCCCTCCCGGACACCTTCCCAGATGCCCCCGGAAGCTCCTGTCCAGGCCACAGCATCCCTCAGCCTCTGTCACTGGTCCTAGGAAGACCCTTTGGGAGCTCTCACTCAGGGCCACACTCAGGACCCCCGTTGTGGGGCTGGCCGCCTTCCTTCTAAAGCACCTGGAGGAAGGAAGGAGGGGGTCAATGCGAGCCTCAATCCCCAGGCGAGTGTGCCCCTTTTAAAGATGAGGGAACCGAGGCTCAGAGAAGGAAAGGACTTGCCTGGCGTCACACAGCTAGCCTAAGATGGTGAGGTCAGGAGCTCCCTGGCAACACCCAGGCTGCCGTACCGTCTCCTGCATCAGACTGAGCCTCCATCGGGCTCCTCCCACAGCCCCAGGCGGGCCCCTGAGTAGGGGCTCTCAGCTTGTGTGGAGGTCCCCCAGGAACACCACCCCGATCCAGCCTCCATGGAGGCTCTTGCCGGCCACTGGGAGGGGCCGGTGCACCCTGGGCAGCCCCTGCCAGGGCCCTGAGACCCGAGCCTCCCCGCCGAGGGCACCTGTCTCGGCTTTGCCCCATTCGAGCAGGGCCCTCGCCGAGGCAGGACAGGGCCACATTCGGAAGTGAGAGTTCTCTGAGTCCCGCACAGAGCGAGTCTCTGTCCCCAGCCCCCAAGGCAGCTGCCCTGGTGGGTGAGTCAGGCCAGGCCCGGAGACTTCCCGAGAGCGAGGGAGGGACAGCAGCGCCTCCATCACAGGGAAGTGTCCCTGCGGGAGGCCCTGGCCCTGATTGGGCGCCGGGGCGGAGCGGCCTTTGCTCTTTGCGTGGTCGCGGGGGTATAACAGCGGCGCGCGTGGCTCGCAGACCGGGGAGACGGGCGGGCGCACAGCCGGCGCGGAGGCCCCACAGCCCCGCCGGGACCCGAGGCCAAGCGAGGGGCTGCCAGTGTCCCGGGACCCACCGCGTCCGCCCCAGCCCCGGGTCCCCGCGCCCACCCCATGGCGACGGACGCGGCGCTACGCCGGCTTCTGAGGCTGCACCGCACGGAGATCGCGGTGGCCGTGGACAGCGCCTTCCCACTGCTGCACGCGCTGGCTGACCACGACGTGGTCCCCGAGGACAAGTTTCAGGTGGGCTCCCCGCCCGCCCCCCGCTGCCCCCAGGCCCTGTGAGCCAGGGATAGTCCCCGGGGAAGTTCCAGGAGGACCCCGCCCCTCCAGATCCCCAAGCCCCTCCAGCCTTCCCCAACTCCCTCCCCACAAGGAGCCAGGGGCGTCCCTGATGACAAGTTAGAAGTTGGTCCCCTTCCCCCAGCCGTCCCCACACCTCACCCCCAAGCCAAGGGAATGGCCTCCAGGTTCCCCCAGCCCCACCCTCAACACCCCTACACCACCACCTGACTCCACCACAAGCCGAGGAGATGGGCGTGGAGCTGTCCAGGTCGCCAGCGCCTCTGCCTGGGAGCTCCACCCTCTAGTCATGATGGAGATGGGCAGGCCGCAGGGTGTGGGGGACCATGGCAGGGACCCTCATGCCACCCCACTGCAGGAGACGCTTCATCTGAAGGAAAAGGAGGGCTGCCCCCAGGCCTTCCACGCCCTCCTGTCCTGGCTGCTGACCCAGGACTCCACAGCCATCCTGGACTTCTGGAGGGGGCTGTTCAAGGACTACAACCTGGAGCGCTATGGCCGGCTGCAGCCCATCCTGGACAGCTTCCCCAAAGGTGGGTCCTGGTGGACTCAGCCATGCTGGGGGCCTGGGGCAGCTGCTGTCACCTGCTCAGCCCAGCTGGACTGGAACCGGAGTGGTGTTTGAGGAGCCCGTGGGTGATGTTCCAGGACCGTCTTGGATCCTAAGAGGCAAAGGGGCCAGGCCTCACCTGTCTGGCCAAGGTGTCCAGTTCTGGGGCCCACCCTACCCCTGGAGAAAACCCTGAGGTTGGGACCCTGCTCCTGCCCCTGAGCTGCAGATGTGGACCTCAGCCAGCCCCGGAAGGGGAGGAAGCCCCCGGCCGTCCCCAAGGCTTTGGTACCGCCACCCAGACTCCCCACCAAGAGGAAGGCCTCAGAAGAGGCTCGAGCTGCCGCGCCAGCAGCCCTGACTCCAAGGGGCACCGCCAGCCCAGGTACCCTCCCTGCAGGGGAAGCCAGCCAGGGTCTCCAGTCTTCCCGGGCTTCCCCGGGAGCCCACGCCCCCTCCCCACCCGGGCTCCCACCCACTGGGTGTGGGGCCAGCCTGCCTGGGGCTGTGGGGGTCTCCTCTGGGTACTAGACCCACACACTGGACCAGCCTCTCAGCTCCCTCCTGCCTGAAGGCTGAGCTCCCCGGAGCTGGTGAAGTAGGCGGGCGGGTCTCATTTCCCTTTTACTGATGAGAAACCAGAGCCCGGCAAAGGGACTACCCAGCACTGGACCGCCCCCTCCACGCCCTCCCACCGCGGGCCCCTGCCCACCGGCACTCACCCCCACTGAGAGGGGAGGCCAGGCTGCCCCCAGCTCCCCCATTCAGGCTCTCAACTGAAGGCCAAGCCCCCCAAGAAGCCGGAGAGCAGCGCAGAGCAGCAGCGCCTTCCACTCGGGAACGGTGAGCGGGGCCCAGTGGGAGCGCCTCCCTTCTCCCTGGCCAGGGGCAAGGGGTCAGGGGTCAGAGCAGGGCCTGCCCTCTGAGACCCTGTCCTAGGGGCTGGGGACGTGCTGGCCTGGTGTGTCATTCCAAGGGCCTAAGCTGCACCACCAGACCCAGGAAGGGGACACCTTGGGTCTAAGCATGATCTTGCCAGTCGCCCCTGCCCCCACTGCACCCTGGTTCTGGGACCCCCTTCTCAGGCACCTTCTCTGCCCGTCCACTCCCTATCCTTCAGGACCAGCCTAGACATAGCTTCCTCCAGAAAATCATCCCTGGCCCCCAGCTGCATGCAGGCTGAACCCTTCCTGTCCCCTTCTCCTTCCTTCCCAGGGCACTGGACTCCAGAGACCCCCTATCTCCCTGAGGGCAGAGCCTAGGAACTCTGTGTCCCTCCCGGCACAATACAGGGCCCATGTCATGGGGGGGTGGGTCTGGTCATTGGTCATGCCTTCCTATCCATTGTGCCAGCTCTGCTGACACTGCCACCCCCCAGCACACGCACACTTGGGTGCACACACGAACACACACATTCTCATGTCTCTGCACTTACCTGTGGGCTGTCTGCACATGGCAGGGCTGGGTCCCCTCCTTGGCCTGCCCTGGCTGGAAGGAAAGGGCTCTGCAGCCCAGTGCTGCCTGCTTCTGGCATAGAGTATGTGCTTGGGAACAGTCTTCCCCACGGGTGACCCCAATGGGTGTTCCCTTTCCCAGGGATTCAGACCATGTCAGCTTCAGTCCAGAGAGCTGTGGCCATGTCCTCCGGGGACGTCCCGGGAGCCCGAGGGGCCGTGGAGGGGATCCTCATCCAGCAGGTGTTTGAGTCAGGTAGACGCTGTGGCGGGGAGATGGGGCTGATGGGGAGACCCAGGCTCCAAGATGGAAGGAGGACCACGCCCCTTTGCATCCTGGTGGTCCCACAGCAGACCGGACTGTTGCTCAGGTAGCCAGAGTTTCTGCCTGTGGTTCTGCTGACTTTGGAGGAGGAGGGTGAGCACTGAAGTCTCCCTGTCGGGGGACCTTCTGCAAGGCCAGCGGTCCAGGCCCACATCCCCACCCGGGATGTACAGCACTCCCCAG
Task1_train_28450
This sequence variant lies in AIRE (autoimmune regulator) on Chromosome 21. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Polyglandular autoimmune syndrome, type 1
ACTGCATCAGTTAGCCCCCAGCCCAGTGCTGCCTGGATTCAGGCTTCCTGGTACCTTCGTCCACCCTTCAGCCCTAATCCATGCTGGCCAGGTCATCTCGTTCTCTGGCTCAGTGGGAACACTCGTGCCCAGAGACCTCTCGTGGTTCTCTGCAGCCTGCACACAGGGCCTGCTTCCCTGGCTTGACCGCACAGACAAGGGGACTGTTACCAAGGCCTCCCACTGAGGCCACCCCCCCTCCAGGCCATGCCTGCGGGGCCACCACAGCCTCAGCATCATTGCAGGCCCCAGGCCTCTGCACCTGGTCTTGTTTTACTGGGGGCACTGTCCCCACTCACGTCCACCTGGGACCCTCGGCTCCTGTCCACTGCAGCTCCCCTCCCGGACACCTTCCCAGATGCCCCCGGAAGCTCCTGTCCAGGCCACAGCATCCCTCAGCCTCTGTCACTGGTCCTAGGAAGACCCTTTGGGAGCTCTCACTCAGGGCCACACTCAGGACCCCCGTTGTGGGGCTGGCCGCCTTCCTTCTAAAGCACCTGGAGGAAGGAAGGAGGGGGTCAATGCGAGCCTCAATCCCCAGGCGAGTGTGCCCCTTTTAAAGATGAGGGAACCGAGGCTCAGAGAAGGAAAGGACTTGCCTGGCGTCACACAGCTAGCCTAAGATGGTGAGGTCAGGAGCTCCCTGGCAACACCCAGGCTGCCGTACCGTCTCCTGCATCAGACTGAGCCTCCATCGGGCTCCTCCCACAGCCCCAGGCGGGCCCCTGAGTAGGGGCTCTCAGCTTGTGTGGAGGTCCCCCAGGAACACCACCCCGATCCAGCCTCCATGGAGGCTCTTGCCGGCCACTGGGAGGGGCCGGTGCACCCTGGGCAGCCCCTGCCAGGGCCCTGAGACCCGAGCCTCCCCGCCGAGGGCACCTGTCTCGGCTTTGCCCCATTCGAGCAGGGCCCTCGCCGAGGCAGGACAGGGCCACATTCGGAAGTGAGAGTTCTCTGAGTCCCGCACAGAGCGAGTCTCTGTCCCCAGCCCCCAAGGCAGCTGCCCTGGTGGGTGAGTCAGGCCAGGCCCGGAGACTTCCCGAGAGCGAGGGAGGGACAGCAGCGCCTCCATCACAGGGAAGTGTCCCTGCGGGAGGCCCTGGCCCTGATTGGGCGCCGGGGCGGAGCGGCCTTTGCTCTTTGCGTGGTCGCGGGGGTATAACAGCGGCGCGCGTGGCTCGCAGACCGGGGAGACGGGCGGGCGCACAGCCGGCGCGGAGGCCCCACAGCCCCGCCGGGACCCGAGGCCAAGCGAGGGGCTGCCAGTGTCCCGGGACCCACCGCGTCCGCCCCAGCCCCGGGTCCCCGCGCCCACCCCATGGCGACGGACGCGGCGCTACGCCGGCTTCTGAGGCTGCACCGCACGGAGATCGCGGTGGCCGTGGACAGCGCCTTCCCACTGCTGCACGCGCTGGCTGACCACGACGTGGTCCCCGAGGACAAGTTTCAGGTGGGCTCCCCGCCCGCCCCCCGCTGCCCCCAGGCCCTGTGAGCCAGGGATAGTCCCCGGGGAAGTTCCAGGAGGACCCCGCCCCTCCAGATCCCCAAGCCCCTCCAGCCTTCCCCAACTCCCTCCCCACAAGGAGCCAGGGGCGTCCCTGATGACAAGTTAGAAGTTGGTCCCCTTCCCCCAGCCGTCCCCACACCTCACCCCCAAGCCAAGGGAATGGCCTCCAGGTTCCCCCAGCCCCACCCTCAACACCCCTACACCACCACCTGACTCCACCACAAGCCGAGGAGATGGGCGTGGAGCTGTCCAGGTCGCCAGCGCCTCTGCCTGGGAGCTCCACCCTCTAGTCATGATGGAGATGGGCAGGCCGCAGGGTGTGGGGGACCATGGCAGGGACCCTCATGCCACCCCACTGCAGGAGACGCTTCATCTGAAGGAAAAGGAGGGCTGCCCCCAGGCCTTCCACGCCCTCCTGTCCTGGCTGCTGACCCAGGACTCCACAGCCATCCTGGACTTCTGGAGGGTGCTGTTCAAGGACTACAACCTGGAGCGCTATGGCCGGCTGCAGCCCATCCTGGACAGCTTCCCCAAAGGTGGGTCCTGGTGGACTCAGCCATGCTGGGGGCCTGGGGCAGCTGCTGTCACCTGCTCAGCCCAGCTGGACTGGAACCGGAGTGGTGTTTGAGGAGCCCGTGGGTGATGTTCCAGGACCGTCTTGGATCCTAAGAGGCAAAGGGGCCAGGCCTCACCTGTCTGGCCAAGGTGTCCAGTTCTGGGGCCCACCCTACCCCTGGAGAAAACCCTGAGGTTGGGACCCTGCTCCTGCCCCTGAGCTGCAGATGTGGACCTCAGCCAGCCCCGGAAGGGGAGGAAGCCCCCGGCCGTCCCCAAGGCTTTGGTACCGCCACCCAGACTCCCCACCAAGAGGAAGGCCTCAGAAGAGGCTCGAGCTGCCGCGCCAGCAGCCCTGACTCCAAGGGGCACCGCCAGCCCAGGTACCCTCCCTGCAGGGGAAGCCAGCCAGGGTCTCCAGTCTTCCCGGGCTTCCCCGGGAGCCCACGCCCCCTCCCCACCCGGGCTCCCACCCACTGGGTGTGGGGCCAGCCTGCCTGGGGCTGTGGGGGTCTCCTCTGGGTACTAGACCCACACACTGGACCAGCCTCTCAGCTCCCTCCTGCCTGAAGGCTGAGCTCCCCGGAGCTGGTGAAGTAGGCGGGCGGGTCTCATTTCCCTTTTACTGATGAGAAACCAGAGCCCGGCAAAGGGACTACCCAGCACTGGACCGCCCCCTCCACGCCCTCCCACCGCGGGCCCCTGCCCACCGGCACTCACCCCCACTGAGAGGGGAGGCCAGGCTGCCCCCAGCTCCCCCATTCAGGCTCTCAACTGAAGGCCAAGCCCCCCAAGAAGCCGGAGAGCAGCGCAGAGCAGCAGCGCCTTCCACTCGGGAACGGTGAGCGGGGCCCAGTGGGAGCGCCTCCCTTCTCCCTGGCCAGGGGCAAGGGGTCAGGGGTCAGAGCAGGGCCTGCCCTCTGAGACCCTGTCCTAGGGGCTGGGGACGTGCTGGCCTGGTGTGTCATTCCAAGGGCCTAAGCTGCACCACCAGACCCAGGAAGGGGACACCTTGGGTCTAAGCATGATCTTGCCAGTCGCCCCTGCCCCCACTGCACCCTGGTTCTGGGACCCCCTTCTCAGGCACCTTCTCTGCCCGTCCACTCCCTATCCTTCAGGACCAGCCTAGACATAGCTTCCTCCAGAAAATCATCCCTGGCCCCCAGCTGCATGCAGGCTGAACCCTTCCTGTCCCCTTCTCCTTCCTTCCCAGGGCACTGGACTCCAGAGACCCCCTATCTCCCTGAGGGCAGAGCCTAGGAACTCTGTGTCCCTCCCGGCACAATACAGGGCCCATGTCATGGGGGGGTGGGTCTGGTCATTGGTCATGCCTTCCTATCCATTGTGCCAGCTCTGCTGACACTGCCACCCCCCAGCACACGCACACTTGGGTGCACACACGAACACACACATTCTCATGTCTCTGCACTTACCTGTGGGCTGTCTGCACATGGCAGGGCTGGGTCCCCTCCTTGGCCTGCCCTGGCTGGAAGGAAAGGGCTCTGCAGCCCAGTGCTGCCTGCTTCTGGCATAGAGTATGTGCTTGGGAACAGTCTTCCCCACGGGTGACCCCAATGGGTGTTCCCTTTCCCAGGGATTCAGACCATGTCAGCTTCAGTCCAGAGAGCTGTGGCCATGTCCTCCGGGGACGTCCCGGGAGCCCGAGGGGCCGTGGAGGGGATCCTCATCCAGCAGGTGTTTGAGTCAGGTAGACGCTGTGGCGGGGAGATGGGGCTGATGGGGAGACCCAGGCTCCAAGATGGAAGGAGGACCACGCCCCTTTGCATCCTGGTGGTCCCACAGCAGACCGGACTGTTGCTCAGGTAGCCAGAGTTTCTGCCTGTGGTTCTGCTGACTTTGGAGGAGGAGGGTGAGCACTGAAGTCTCCCTGTCGGGGGACCTTCTGCAAGGCCAGCGGTCCAGGCCCACATCCCCACCCGGGATGTACAGCACTCCCCAGTCACCTCCATCCATGTGCATGGGCCCTCCTGGGCC
ACTGCATCAGTTAGCCCCCAGCCCAGTGCTGCCTGGATTCAGGCTTCCTGGTACCTTCGTCCACCCTTCAGCCCTAATCCATGCTGGCCAGGTCATCTCGTTCTCTGGCTCAGTGGGAACACTCGTGCCCAGAGACCTCTCGTGGTTCTCTGCAGCCTGCACACAGGGCCTGCTTCCCTGGCTTGACCGCACAGACAAGGGGACTGTTACCAAGGCCTCCCACTGAGGCCACCCCCCCTCCAGGCCATGCCTGCGGGGCCACCACAGCCTCAGCATCATTGCAGGCCCCAGGCCTCTGCACCTGGTCTTGTTTTACTGGGGGCACTGTCCCCACTCACGTCCACCTGGGACCCTCGGCTCCTGTCCACTGCAGCTCCCCTCCCGGACACCTTCCCAGATGCCCCCGGAAGCTCCTGTCCAGGCCACAGCATCCCTCAGCCTCTGTCACTGGTCCTAGGAAGACCCTTTGGGAGCTCTCACTCAGGGCCACACTCAGGACCCCCGTTGTGGGGCTGGCCGCCTTCCTTCTAAAGCACCTGGAGGAAGGAAGGAGGGGGTCAATGCGAGCCTCAATCCCCAGGCGAGTGTGCCCCTTTTAAAGATGAGGGAACCGAGGCTCAGAGAAGGAAAGGACTTGCCTGGCGTCACACAGCTAGCCTAAGATGGTGAGGTCAGGAGCTCCCTGGCAACACCCAGGCTGCCGTACCGTCTCCTGCATCAGACTGAGCCTCCATCGGGCTCCTCCCACAGCCCCAGGCGGGCCCCTGAGTAGGGGCTCTCAGCTTGTGTGGAGGTCCCCCAGGAACACCACCCCGATCCAGCCTCCATGGAGGCTCTTGCCGGCCACTGGGAGGGGCCGGTGCACCCTGGGCAGCCCCTGCCAGGGCCCTGAGACCCGAGCCTCCCCGCCGAGGGCACCTGTCTCGGCTTTGCCCCATTCGAGCAGGGCCCTCGCCGAGGCAGGACAGGGCCACATTCGGAAGTGAGAGTTCTCTGAGTCCCGCACAGAGCGAGTCTCTGTCCCCAGCCCCCAAGGCAGCTGCCCTGGTGGGTGAGTCAGGCCAGGCCCGGAGACTTCCCGAGAGCGAGGGAGGGACAGCAGCGCCTCCATCACAGGGAAGTGTCCCTGCGGGAGGCCCTGGCCCTGATTGGGCGCCGGGGCGGAGCGGCCTTTGCTCTTTGCGTGGTCGCGGGGGTATAACAGCGGCGCGCGTGGCTCGCAGACCGGGGAGACGGGCGGGCGCACAGCCGGCGCGGAGGCCCCACAGCCCCGCCGGGACCCGAGGCCAAGCGAGGGGCTGCCAGTGTCCCGGGACCCACCGCGTCCGCCCCAGCCCCGGGTCCCCGCGCCCACCCCATGGCGACGGACGCGGCGCTACGCCGGCTTCTGAGGCTGCACCGCACGGAGATCGCGGTGGCCGTGGACAGCGCCTTCCCACTGCTGCACGCGCTGGCTGACCACGACGTGGTCCCCGAGGACAAGTTTCAGGTGGGCTCCCCGCCCGCCCCCCGCTGCCCCCAGGCCCTGTGAGCCAGGGATAGTCCCCGGGGAAGTTCCAGGAGGACCCCGCCCCTCCAGATCCCCAAGCCCCTCCAGCCTTCCCCAACTCCCTCCCCACAAGGAGCCAGGGGCGTCCCTGATGACAAGTTAGAAGTTGGTCCCCTTCCCCCAGCCGTCCCCACACCTCACCCCCAAGCCAAGGGAATGGCCTCCAGGTTCCCCCAGCCCCACCCTCAACACCCCTACACCACCACCTGACTCCACCACAAGCCGAGGAGATGGGCGTGGAGCTGTCCAGGTCGCCAGCGCCTCTGCCTGGGAGCTCCACCCTCTAGTCATGATGGAGATGGGCAGGCCGCAGGGTGTGGGGGACCATGGCAGGGACCCTCATGCCACCCCACTGCAGGAGACGCTTCATCTGAAGGAAAAGGAGGGCTGCCCCCAGGCCTTCCACGCCCTCCTGTCCTGGCTGCTGACCCAGGACTCCACAGCCATCCTGGACTTCTGGAGGGTGCTGTTCAAGGACTACAACCTGGAGCGCTATGGCTGGCTGCAGCCCATCCTGGACAGCTTCCCCAAAGGTGGGTCCTGGTGGACTCAGCCATGCTGGGGGCCTGGGGCAGCTGCTGTCACCTGCTCAGCCCAGCTGGACTGGAACCGGAGTGGTGTTTGAGGAGCCCGTGGGTGATGTTCCAGGACCGTCTTGGATCCTAAGAGGCAAAGGGGCCAGGCCTCACCTGTCTGGCCAAGGTGTCCAGTTCTGGGGCCCACCCTACCCCTGGAGAAAACCCTGAGGTTGGGACCCTGCTCCTGCCCCTGAGCTGCAGATGTGGACCTCAGCCAGCCCCGGAAGGGGAGGAAGCCCCCGGCCGTCCCCAAGGCTTTGGTACCGCCACCCAGACTCCCCACCAAGAGGAAGGCCTCAGAAGAGGCTCGAGCTGCCGCGCCAGCAGCCCTGACTCCAAGGGGCACCGCCAGCCCAGGTACCCTCCCTGCAGGGGAAGCCAGCCAGGGTCTCCAGTCTTCCCGGGCTTCCCCGGGAGCCCACGCCCCCTCCCCACCCGGGCTCCCACCCACTGGGTGTGGGGCCAGCCTGCCTGGGGCTGTGGGGGTCTCCTCTGGGTACTAGACCCACACACTGGACCAGCCTCTCAGCTCCCTCCTGCCTGAAGGCTGAGCTCCCCGGAGCTGGTGAAGTAGGCGGGCGGGTCTCATTTCCCTTTTACTGATGAGAAACCAGAGCCCGGCAAAGGGACTACCCAGCACTGGACCGCCCCCTCCACGCCCTCCCACCGCGGGCCCCTGCCCACCGGCACTCACCCCCACTGAGAGGGGAGGCCAGGCTGCCCCCAGCTCCCCCATTCAGGCTCTCAACTGAAGGCCAAGCCCCCCAAGAAGCCGGAGAGCAGCGCAGAGCAGCAGCGCCTTCCACTCGGGAACGGTGAGCGGGGCCCAGTGGGAGCGCCTCCCTTCTCCCTGGCCAGGGGCAAGGGGTCAGGGGTCAGAGCAGGGCCTGCCCTCTGAGACCCTGTCCTAGGGGCTGGGGACGTGCTGGCCTGGTGTGTCATTCCAAGGGCCTAAGCTGCACCACCAGACCCAGGAAGGGGACACCTTGGGTCTAAGCATGATCTTGCCAGTCGCCCCTGCCCCCACTGCACCCTGGTTCTGGGACCCCCTTCTCAGGCACCTTCTCTGCCCGTCCACTCCCTATCCTTCAGGACCAGCCTAGACATAGCTTCCTCCAGAAAATCATCCCTGGCCCCCAGCTGCATGCAGGCTGAACCCTTCCTGTCCCCTTCTCCTTCCTTCCCAGGGCACTGGACTCCAGAGACCCCCTATCTCCCTGAGGGCAGAGCCTAGGAACTCTGTGTCCCTCCCGGCACAATACAGGGCCCATGTCATGGGGGGGTGGGTCTGGTCATTGGTCATGCCTTCCTATCCATTGTGCCAGCTCTGCTGACACTGCCACCCCCCAGCACACGCACACTTGGGTGCACACACGAACACACACATTCTCATGTCTCTGCACTTACCTGTGGGCTGTCTGCACATGGCAGGGCTGGGTCCCCTCCTTGGCCTGCCCTGGCTGGAAGGAAAGGGCTCTGCAGCCCAGTGCTGCCTGCTTCTGGCATAGAGTATGTGCTTGGGAACAGTCTTCCCCACGGGTGACCCCAATGGGTGTTCCCTTTCCCAGGGATTCAGACCATGTCAGCTTCAGTCCAGAGAGCTGTGGCCATGTCCTCCGGGGACGTCCCGGGAGCCCGAGGGGCCGTGGAGGGGATCCTCATCCAGCAGGTGTTTGAGTCAGGTAGACGCTGTGGCGGGGAGATGGGGCTGATGGGGAGACCCAGGCTCCAAGATGGAAGGAGGACCACGCCCCTTTGCATCCTGGTGGTCCCACAGCAGACCGGACTGTTGCTCAGGTAGCCAGAGTTTCTGCCTGTGGTTCTGCTGACTTTGGAGGAGGAGGGTGAGCACTGAAGTCTCCCTGTCGGGGGACCTTCTGCAAGGCCAGCGGTCCAGGCCCACATCCCCACCCGGGATGTACAGCACTCCCCAGTCACCTCCATCCATGTGCATGGGCCCTCCTGGGCC
Task1_train_28451
This is a variant in AIRE (autoimmune regulator), located on Chromosome 21. Is this mutation a likely cause of disease or not?
Pathogenic; Polyglandular autoimmune syndrome, type 1
CATCAGTTAGCCCCCAGCCCAGTGCTGCCTGGATTCAGGCTTCCTGGTACCTTCGTCCACCCTTCAGCCCTAATCCATGCTGGCCAGGTCATCTCGTTCTCTGGCTCAGTGGGAACACTCGTGCCCAGAGACCTCTCGTGGTTCTCTGCAGCCTGCACACAGGGCCTGCTTCCCTGGCTTGACCGCACAGACAAGGGGACTGTTACCAAGGCCTCCCACTGAGGCCACCCCCCCTCCAGGCCATGCCTGCGGGGCCACCACAGCCTCAGCATCATTGCAGGCCCCAGGCCTCTGCACCTGGTCTTGTTTTACTGGGGGCACTGTCCCCACTCACGTCCACCTGGGACCCTCGGCTCCTGTCCACTGCAGCTCCCCTCCCGGACACCTTCCCAGATGCCCCCGGAAGCTCCTGTCCAGGCCACAGCATCCCTCAGCCTCTGTCACTGGTCCTAGGAAGACCCTTTGGGAGCTCTCACTCAGGGCCACACTCAGGACCCCCGTTGTGGGGCTGGCCGCCTTCCTTCTAAAGCACCTGGAGGAAGGAAGGAGGGGGTCAATGCGAGCCTCAATCCCCAGGCGAGTGTGCCCCTTTTAAAGATGAGGGAACCGAGGCTCAGAGAAGGAAAGGACTTGCCTGGCGTCACACAGCTAGCCTAAGATGGTGAGGTCAGGAGCTCCCTGGCAACACCCAGGCTGCCGTACCGTCTCCTGCATCAGACTGAGCCTCCATCGGGCTCCTCCCACAGCCCCAGGCGGGCCCCTGAGTAGGGGCTCTCAGCTTGTGTGGAGGTCCCCCAGGAACACCACCCCGATCCAGCCTCCATGGAGGCTCTTGCCGGCCACTGGGAGGGGCCGGTGCACCCTGGGCAGCCCCTGCCAGGGCCCTGAGACCCGAGCCTCCCCGCCGAGGGCACCTGTCTCGGCTTTGCCCCATTCGAGCAGGGCCCTCGCCGAGGCAGGACAGGGCCACATTCGGAAGTGAGAGTTCTCTGAGTCCCGCACAGAGCGAGTCTCTGTCCCCAGCCCCCAAGGCAGCTGCCCTGGTGGGTGAGTCAGGCCAGGCCCGGAGACTTCCCGAGAGCGAGGGAGGGACAGCAGCGCCTCCATCACAGGGAAGTGTCCCTGCGGGAGGCCCTGGCCCTGATTGGGCGCCGGGGCGGAGCGGCCTTTGCTCTTTGCGTGGTCGCGGGGGTATAACAGCGGCGCGCGTGGCTCGCAGACCGGGGAGACGGGCGGGCGCACAGCCGGCGCGGAGGCCCCACAGCCCCGCCGGGACCCGAGGCCAAGCGAGGGGCTGCCAGTGTCCCGGGACCCACCGCGTCCGCCCCAGCCCCGGGTCCCCGCGCCCACCCCATGGCGACGGACGCGGCGCTACGCCGGCTTCTGAGGCTGCACCGCACGGAGATCGCGGTGGCCGTGGACAGCGCCTTCCCACTGCTGCACGCGCTGGCTGACCACGACGTGGTCCCCGAGGACAAGTTTCAGGTGGGCTCCCCGCCCGCCCCCCGCTGCCCCCAGGCCCTGTGAGCCAGGGATAGTCCCCGGGGAAGTTCCAGGAGGACCCCGCCCCTCCAGATCCCCAAGCCCCTCCAGCCTTCCCCAACTCCCTCCCCACAAGGAGCCAGGGGCGTCCCTGATGACAAGTTAGAAGTTGGTCCCCTTCCCCCAGCCGTCCCCACACCTCACCCCCAAGCCAAGGGAATGGCCTCCAGGTTCCCCCAGCCCCACCCTCAACACCCCTACACCACCACCTGACTCCACCACAAGCCGAGGAGATGGGCGTGGAGCTGTCCAGGTCGCCAGCGCCTCTGCCTGGGAGCTCCACCCTCTAGTCATGATGGAGATGGGCAGGCCGCAGGGTGTGGGGGACCATGGCAGGGACCCTCATGCCACCCCACTGCAGGAGACGCTTCATCTGAAGGAAAAGGAGGGCTGCCCCCAGGCCTTCCACGCCCTCCTGTCCTGGCTGCTGACCCAGGACTCCACAGCCATCCTGGACTTCTGGAGGGTGCTGTTCAAGGACTACAACCTGGAGCGCTATGGCCGGCTGCAGCCCATCCTGGACAGCTTCCCCAAAGGTGGGTCCTGGTGGACTCAGCCATGCTGGGGGCCTGGGGCAGCTGCTGTCACCTGCTCAGCCCAGCTGGACTGGAACCGGAGTGGTGTTTGAGGAGCCCGTGGGTGATGTTCCAGGACCGTCTTGGATCCTAAGAGGCAAAGGGGCCAGGCCTCACCTGTCTGGCCAAGGTGTCCAGTTCTGGGGCCCACCCTACCCCTGGAGAAAACCCTGAGGTTGGGACCCTGCTCCTGCCCCTGAGCTGCAGATGTGGACCTCAGCCAGCCCCGGAAGGGGAGGAAGCCCCCGGCCGTCCCCAAGGCTTTGGTACCGCCACCCAGACTCCCCACCAAGAGGAAGGCCTCAGAAGAGGCTCGAGCTGCCGCGCCAGCAGCCCTGACTCCAAGGGGCACCGCCAGCCCAGGTACCCTCCCTGCAGGGGAAGCCAGCCAGGGTCTCCAGTCTTCCCGGGCTTCCCCGGGAGCCCACGCCCCCTCCCCACCCGGGCTCCCACCCACTGGGTGTGGGGCCAGCCTGCCTGGGGCTGTGGGGGTCTCCTCTGGGTACTAGACCCACACACTGGACCAGCCTCTCAGCTCCCTCCTGCCTGAAGGCTGAGCTCCCCGGAGCTGGTGAAGTAGGCGGGCGGGTCTCATTTCCCTTTTACTGATGAGAAACCAGAGCCCGGCAAAGGGACTACCCAGCACTGGACCGCCCCCTCCACGCCCTCCCACCGCGGGCCCCTGCCCACCGGCACTCACCCCCACTGAGAGGGGAGGCCAGGCTGCCCCCAGCTCCCCCATTCAGGCTCTCAACTGAAGGCCAAGCCCCCCAAGAAGCCGGAGAGCAGCGCAGAGCAGCAGCGCCTTCCACTCGGGAACGGTGAGCGGGGCCCAGTGGGAGCGCCTCCCTTCTCCCTGGCCAGGGGCAAGGGGTCAGGGGTCAGAGCAGGGCCTGCCCTCTGAGACCCTGTCCTAGGGGCTGGGGACGTGCTGGCCTGGTGTGTCATTCCAAGGGCCTAAGCTGCACCACCAGACCCAGGAAGGGGACACCTTGGGTCTAAGCATGATCTTGCCAGTCGCCCCTGCCCCCACTGCACCCTGGTTCTGGGACCCCCTTCTCAGGCACCTTCTCTGCCCGTCCACTCCCTATCCTTCAGGACCAGCCTAGACATAGCTTCCTCCAGAAAATCATCCCTGGCCCCCAGCTGCATGCAGGCTGAACCCTTCCTGTCCCCTTCTCCTTCCTTCCCAGGGCACTGGACTCCAGAGACCCCCTATCTCCCTGAGGGCAGAGCCTAGGAACTCTGTGTCCCTCCCGGCACAATACAGGGCCCATGTCATGGGGGGGTGGGTCTGGTCATTGGTCATGCCTTCCTATCCATTGTGCCAGCTCTGCTGACACTGCCACCCCCCAGCACACGCACACTTGGGTGCACACACGAACACACACATTCTCATGTCTCTGCACTTACCTGTGGGCTGTCTGCACATGGCAGGGCTGGGTCCCCTCCTTGGCCTGCCCTGGCTGGAAGGAAAGGGCTCTGCAGCCCAGTGCTGCCTGCTTCTGGCATAGAGTATGTGCTTGGGAACAGTCTTCCCCACGGGTGACCCCAATGGGTGTTCCCTTTCCCAGGGATTCAGACCATGTCAGCTTCAGTCCAGAGAGCTGTGGCCATGTCCTCCGGGGACGTCCCGGGAGCCCGAGGGGCCGTGGAGGGGATCCTCATCCAGCAGGTGTTTGAGTCAGGTAGACGCTGTGGCGGGGAGATGGGGCTGATGGGGAGACCCAGGCTCCAAGATGGAAGGAGGACCACGCCCCTTTGCATCCTGGTGGTCCCACAGCAGACCGGACTGTTGCTCAGGTAGCCAGAGTTTCTGCCTGTGGTTCTGCTGACTTTGGAGGAGGAGGGTGAGCACTGAAGTCTCCCTGTCGGGGGACCTTCTGCAAGGCCAGCGGTCCAGGCCCACATCCCCACCCGGGATGTACAGCACTCCCCAGTCACCTCCATCCATGTGCATGGGCCCTCCTGGGCCATGG
CATCAGTTAGCCCCCAGCCCAGTGCTGCCTGGATTCAGGCTTCCTGGTACCTTCGTCCACCCTTCAGCCCTAATCCATGCTGGCCAGGTCATCTCGTTCTCTGGCTCAGTGGGAACACTCGTGCCCAGAGACCTCTCGTGGTTCTCTGCAGCCTGCACACAGGGCCTGCTTCCCTGGCTTGACCGCACAGACAAGGGGACTGTTACCAAGGCCTCCCACTGAGGCCACCCCCCCTCCAGGCCATGCCTGCGGGGCCACCACAGCCTCAGCATCATTGCAGGCCCCAGGCCTCTGCACCTGGTCTTGTTTTACTGGGGGCACTGTCCCCACTCACGTCCACCTGGGACCCTCGGCTCCTGTCCACTGCAGCTCCCCTCCCGGACACCTTCCCAGATGCCCCCGGAAGCTCCTGTCCAGGCCACAGCATCCCTCAGCCTCTGTCACTGGTCCTAGGAAGACCCTTTGGGAGCTCTCACTCAGGGCCACACTCAGGACCCCCGTTGTGGGGCTGGCCGCCTTCCTTCTAAAGCACCTGGAGGAAGGAAGGAGGGGGTCAATGCGAGCCTCAATCCCCAGGCGAGTGTGCCCCTTTTAAAGATGAGGGAACCGAGGCTCAGAGAAGGAAAGGACTTGCCTGGCGTCACACAGCTAGCCTAAGATGGTGAGGTCAGGAGCTCCCTGGCAACACCCAGGCTGCCGTACCGTCTCCTGCATCAGACTGAGCCTCCATCGGGCTCCTCCCACAGCCCCAGGCGGGCCCCTGAGTAGGGGCTCTCAGCTTGTGTGGAGGTCCCCCAGGAACACCACCCCGATCCAGCCTCCATGGAGGCTCTTGCCGGCCACTGGGAGGGGCCGGTGCACCCTGGGCAGCCCCTGCCAGGGCCCTGAGACCCGAGCCTCCCCGCCGAGGGCACCTGTCTCGGCTTTGCCCCATTCGAGCAGGGCCCTCGCCGAGGCAGGACAGGGCCACATTCGGAAGTGAGAGTTCTCTGAGTCCCGCACAGAGCGAGTCTCTGTCCCCAGCCCCCAAGGCAGCTGCCCTGGTGGGTGAGTCAGGCCAGGCCCGGAGACTTCCCGAGAGCGAGGGAGGGACAGCAGCGCCTCCATCACAGGGAAGTGTCCCTGCGGGAGGCCCTGGCCCTGATTGGGCGCCGGGGCGGAGCGGCCTTTGCTCTTTGCGTGGTCGCGGGGGTATAACAGCGGCGCGCGTGGCTCGCAGACCGGGGAGACGGGCGGGCGCACAGCCGGCGCGGAGGCCCCACAGCCCCGCCGGGACCCGAGGCCAAGCGAGGGGCTGCCAGTGTCCCGGGACCCACCGCGTCCGCCCCAGCCCCGGGTCCCCGCGCCCACCCCATGGCGACGGACGCGGCGCTACGCCGGCTTCTGAGGCTGCACCGCACGGAGATCGCGGTGGCCGTGGACAGCGCCTTCCCACTGCTGCACGCGCTGGCTGACCACGACGTGGTCCCCGAGGACAAGTTTCAGGTGGGCTCCCCGCCCGCCCCCCGCTGCCCCCAGGCCCTGTGAGCCAGGGATAGTCCCCGGGGAAGTTCCAGGAGGACCCCGCCCCTCCAGATCCCCAAGCCCCTCCAGCCTTCCCCAACTCCCTCCCCACAAGGAGCCAGGGGCGTCCCTGATGACAAGTTAGAAGTTGGTCCCCTTCCCCCAGCCGTCCCCACACCTCACCCCCAAGCCAAGGGAATGGCCTCCAGGTTCCCCCAGCCCCACCCTCAACACCCCTACACCACCACCTGACTCCACCACAAGCCGAGGAGATGGGCGTGGAGCTGTCCAGGTCGCCAGCGCCTCTGCCTGGGAGCTCCACCCTCTAGTCATGATGGAGATGGGCAGGCCGCAGGGTGTGGGGGACCATGGCAGGGACCCTCATGCCACCCCACTGCAGGAGACGCTTCATCTGAAGGAAAAGGAGGGCTGCCCCCAGGCCTTCCACGCCCTCCTGTCCTGGCTGCTGACCCAGGACTCCACAGCCATCCTGGACTTCTGGAGGGTGCTGTTCAAGGACTACAACCTGGAGCGCTATGGCCGGCGGCAGCCCATCCTGGACAGCTTCCCCAAAGGTGGGTCCTGGTGGACTCAGCCATGCTGGGGGCCTGGGGCAGCTGCTGTCACCTGCTCAGCCCAGCTGGACTGGAACCGGAGTGGTGTTTGAGGAGCCCGTGGGTGATGTTCCAGGACCGTCTTGGATCCTAAGAGGCAAAGGGGCCAGGCCTCACCTGTCTGGCCAAGGTGTCCAGTTCTGGGGCCCACCCTACCCCTGGAGAAAACCCTGAGGTTGGGACCCTGCTCCTGCCCCTGAGCTGCAGATGTGGACCTCAGCCAGCCCCGGAAGGGGAGGAAGCCCCCGGCCGTCCCCAAGGCTTTGGTACCGCCACCCAGACTCCCCACCAAGAGGAAGGCCTCAGAAGAGGCTCGAGCTGCCGCGCCAGCAGCCCTGACTCCAAGGGGCACCGCCAGCCCAGGTACCCTCCCTGCAGGGGAAGCCAGCCAGGGTCTCCAGTCTTCCCGGGCTTCCCCGGGAGCCCACGCCCCCTCCCCACCCGGGCTCCCACCCACTGGGTGTGGGGCCAGCCTGCCTGGGGCTGTGGGGGTCTCCTCTGGGTACTAGACCCACACACTGGACCAGCCTCTCAGCTCCCTCCTGCCTGAAGGCTGAGCTCCCCGGAGCTGGTGAAGTAGGCGGGCGGGTCTCATTTCCCTTTTACTGATGAGAAACCAGAGCCCGGCAAAGGGACTACCCAGCACTGGACCGCCCCCTCCACGCCCTCCCACCGCGGGCCCCTGCCCACCGGCACTCACCCCCACTGAGAGGGGAGGCCAGGCTGCCCCCAGCTCCCCCATTCAGGCTCTCAACTGAAGGCCAAGCCCCCCAAGAAGCCGGAGAGCAGCGCAGAGCAGCAGCGCCTTCCACTCGGGAACGGTGAGCGGGGCCCAGTGGGAGCGCCTCCCTTCTCCCTGGCCAGGGGCAAGGGGTCAGGGGTCAGAGCAGGGCCTGCCCTCTGAGACCCTGTCCTAGGGGCTGGGGACGTGCTGGCCTGGTGTGTCATTCCAAGGGCCTAAGCTGCACCACCAGACCCAGGAAGGGGACACCTTGGGTCTAAGCATGATCTTGCCAGTCGCCCCTGCCCCCACTGCACCCTGGTTCTGGGACCCCCTTCTCAGGCACCTTCTCTGCCCGTCCACTCCCTATCCTTCAGGACCAGCCTAGACATAGCTTCCTCCAGAAAATCATCCCTGGCCCCCAGCTGCATGCAGGCTGAACCCTTCCTGTCCCCTTCTCCTTCCTTCCCAGGGCACTGGACTCCAGAGACCCCCTATCTCCCTGAGGGCAGAGCCTAGGAACTCTGTGTCCCTCCCGGCACAATACAGGGCCCATGTCATGGGGGGGTGGGTCTGGTCATTGGTCATGCCTTCCTATCCATTGTGCCAGCTCTGCTGACACTGCCACCCCCCAGCACACGCACACTTGGGTGCACACACGAACACACACATTCTCATGTCTCTGCACTTACCTGTGGGCTGTCTGCACATGGCAGGGCTGGGTCCCCTCCTTGGCCTGCCCTGGCTGGAAGGAAAGGGCTCTGCAGCCCAGTGCTGCCTGCTTCTGGCATAGAGTATGTGCTTGGGAACAGTCTTCCCCACGGGTGACCCCAATGGGTGTTCCCTTTCCCAGGGATTCAGACCATGTCAGCTTCAGTCCAGAGAGCTGTGGCCATGTCCTCCGGGGACGTCCCGGGAGCCCGAGGGGCCGTGGAGGGGATCCTCATCCAGCAGGTGTTTGAGTCAGGTAGACGCTGTGGCGGGGAGATGGGGCTGATGGGGAGACCCAGGCTCCAAGATGGAAGGAGGACCACGCCCCTTTGCATCCTGGTGGTCCCACAGCAGACCGGACTGTTGCTCAGGTAGCCAGAGTTTCTGCCTGTGGTTCTGCTGACTTTGGAGGAGGAGGGTGAGCACTGAAGTCTCCCTGTCGGGGGACCTTCTGCAAGGCCAGCGGTCCAGGCCCACATCCCCACCCGGGATGTACAGCACTCCCCAGTCACCTCCATCCATGTGCATGGGCCCTCCTGGGCCATGG
Task1_train_28452
A variant found in Chromosome 21 affects AIRE (autoimmune regulator). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Autoimmune polyglandular syndrome type 1, autosomal dominant
CAAGGGGTCAGGGGTCAGAGCAGGGCCTGCCCTCTGAGACCCTGTCCTAGGGGCTGGGGACGTGCTGGCCTGGTGTGTCATTCCAAGGGCCTAAGCTGCACCACCAGACCCAGGAAGGGGACACCTTGGGTCTAAGCATGATCTTGCCAGTCGCCCCTGCCCCCACTGCACCCTGGTTCTGGGACCCCCTTCTCAGGCACCTTCTCTGCCCGTCCACTCCCTATCCTTCAGGACCAGCCTAGACATAGCTTCCTCCAGAAAATCATCCCTGGCCCCCAGCTGCATGCAGGCTGAACCCTTCCTGTCCCCTTCTCCTTCCTTCCCAGGGCACTGGACTCCAGAGACCCCCTATCTCCCTGAGGGCAGAGCCTAGGAACTCTGTGTCCCTCCCGGCACAATACAGGGCCCATGTCATGGGGGGGTGGGTCTGGTCATTGGTCATGCCTTCCTATCCATTGTGCCAGCTCTGCTGACACTGCCACCCCCCAGCACACGCACACTTGGGTGCACACACGAACACACACATTCTCATGTCTCTGCACTTACCTGTGGGCTGTCTGCACATGGCAGGGCTGGGTCCCCTCCTTGGCCTGCCCTGGCTGGAAGGAAAGGGCTCTGCAGCCCAGTGCTGCCTGCTTCTGGCATAGAGTATGTGCTTGGGAACAGTCTTCCCCACGGGTGACCCCAATGGGTGTTCCCTTTCCCAGGGATTCAGACCATGTCAGCTTCAGTCCAGAGAGCTGTGGCCATGTCCTCCGGGGACGTCCCGGGAGCCCGAGGGGCCGTGGAGGGGATCCTCATCCAGCAGGTGTTTGAGTCAGGTAGACGCTGTGGCGGGGAGATGGGGCTGATGGGGAGACCCAGGCTCCAAGATGGAAGGAGGACCACGCCCCTTTGCATCCTGGTGGTCCCACAGCAGACCGGACTGTTGCTCAGGTAGCCAGAGTTTCTGCCTGTGGTTCTGCTGACTTTGGAGGAGGAGGGTGAGCACTGAAGTCTCCCTGTCGGGGGACCTTCTGCAAGGCCAGCGGTCCAGGCCCACATCCCCACCCGGGATGTACAGCACTCCCCAGTCACCTCCATCCATGTGCATGGGCCCTCCTGGGCCATGGGGTTGCATCCTTAGAAAGTTCTGCCTGTGCTGCTGAGACCCTCCAGGGTATCGGCATTCTTCAACCAGGACAGCCTGTAGCATAGCGTCCTTGCCCCCCATACCCTGGCCAGCCTGCAGCATCCTCGCCCGCCATTCCCTGGCCAGCCGCTGACCCCATGCAATCACCAGTGCCATCTGACCAGGGCACAGCAGGGCCGCTGGTGGCAGACCCACCGTGCCATCGGGGCATTCCATCTCAAGTCCCTGACACGGTGTCTCCTCGGTGCTGGACATGGGCTGGGAACACCAAGCACAGCCAGGGCCCTGGTCTTGCACCTCTGGATGGTCCCAAGGCCCACTGTGTTACTTCCTAAGGCTGTTGGTTAAATTGGCACAAACTGGGAGGCTTGAAATGACAGAAATGCCAACATCGAGGTGTCTCGGGGCCACACTCCCTCTGGAGGCTCCAGGGAAGAATCCTTCCTTGTGTCTCCCAGCTGCTGGTCATTATGGGGGTACCCCTGTGCTCCTTGTTCCTGGGCTCAGGACCCACCGCTCCAGCCTCTGCTTCTGTGGTCTCACAGCTGTCTCCCACGTGTCCTCTTTATAAGGACACCAGTCATTGAACTTATGGTCCAGTGTGACCTCATCTTAACTAATCACATCTACAAAGACCCTGATTTCAAGTAAGGTCACACTCTGAGGTTCTGGGTGGACGTGAACTTCGGGGGACGCTGTTGAACACCCTGGTGTAGATCCAGGACAATCCCCGGGCCCCAGACTCGACTGGGGTGGGGGCGGGCTGGAGGAATGCAGGCTGTGGGAACTCCACCTGTCTCTGCTAGACCCCACCCTGGGGCCTACACGACTGCCAAGGCAGGTCCTGCTGGGCGGGTGAGCCAGGACCAGCCGGCATCTCCTCCCAGGCGGCTCCAAGAAGTGCATCCAGGTTGGCGGGGAGTTCTACACTCCCAGCAAGTTCGAAGACTCCGGCAGTGGGAAGAACAAGGCCCGCAGCAGCAGTGGCCCGAAGCCTCTGGTTCGAGCCAAGGGAGCCCAGGGCGCTGCCCCCGTAAGCACCTGACCTTCCCTGGGGAGCCTGGCTCTTGATGCCCCCCGCCCCAGGAACAGCGTTGCCTCTGGGGGAGTGGCTCTGCTGGGGGCTGGGGGCTGCTGCCGAGAGACGCCTGGTGCCACAGCCATGTGCACCCTCGCTGCTGAGGCTGCCCCCATTGCTGACGCCCCTCTTCCTTGCAGGGTGGAGGTGAGGCTAGGCTGGGCCAGCAGGGCAGCGTTCCCGCCCCTCTGGCCCTCCCCAGTGACCCCCAGCTCCACCAGGTAATGCCCTAGACCACAGGAGAGGCCCCTGTCTGCCCTTGCTCCCCTCGGGTGGGTCCTGCTGCCTCTGCCTTTACCTGGGCACTCAGGGATGAGCACCGGGGCCTGAGCCCCTACCCACAGGGTACAGCTCTTTTTCTTTAATAGACAGTATTTTTTTCCTGATAATACGCAATGGTAATAGTTTAAATGAGTCAGAGAAAGTGAGGTCTTCTCAGGCTCTTAAGAGCATGGCGTTTGGTCCAGGCTGTACCCGCTGCTCTCAGCTGGGCCCGTGGGTGGGCCGGGCGCCCCTGCTATAGCCAGGAGGTCAAGGATCCACTGGGAATGCCATGCTCATCTTTCGTCCCCAGCATGGTTTCTTAATGGGGTAGAAGCAGTGTGGGGGGTGCCTGCCGTGGTGGGTTACAGATCTTGACCACTTGGCACCAGGGGCTCTGTGGGGCCCTGGCACTTAGCAGTGACAGGAGCCAGTCCTGCCCTGCAGGAGCACCCGGGCTGGTGGGCGTCTGGGGGATTGTTAGAATGAGTGAGGTCATTGCCGTGCAGGACCAGCCTAGCCTGGCTGTCTGGGGGGATTCTGGAGGAAGTGGTACCTGGGAGACCCCTGAAGGCACAGCAGGCACCATCCAGGCAGGGCACAAGGACGGTGGGGGCTGCAGGTGGAGGATTCAGCAGGCGCTGAGGTCGGGAGAGACCTCCCTGGGCCTGGCCCCACTGCCCTGTGAGGAAGGGTTCATGTGGTTGGTGTACAGTTCCGGGGCCCCTGGAACGCAGCAGCCTGCAAGAAACCGGGTTTTCTTCCCAATAGGGATGGCCCCGGGGGGTGTCTGTTGGAGACCAGATGGATGGGGAACAGGTGGTCAGGGCAGAATTTCAGGCCCTGGCAGCATGGGAGCAGGGCAGAGACTGGGGAGTTCAGGTACCCAGAGATGCTGCTGGGGGAGCTGTTTTGGGAAGGAGGTGGCTCTCAGGAGGGTGCTGCACCCCAGCCCAGTCTGCATGGGCGTCTCTTGCCTGTGCCAGAAGAATGAGGACGAGTGTGCCGTGTGTCGGGACGGCGGGGAGCTCATCTGCTGTGACGGCTGCCCTCGGGCCTTCCACCTGGCCTGCCTGTCCCCTCCGCTCCGGGAGATCCCCAGGTGAGCCTGCACCTCTGCCAGCGCAACCAGGCCACCCCGGTTCACGGCCGCCTCCACCCACTGACCCTGAAGGGAAGCCACCCCAAGCCTCTCCCATCCAAGATGGAAAGGGGTTCTGAGTCAGGTCACTGGGCCGTGGGGCCGGGGCCTGGGGTTTTCCCACCCTGCCACCTGCCTCCCGGTCTGGCCACACCTGCTGCCCAGCCTGGACAGCTGGGCCCCTGAGGGCAGCAAAGCAGAACAGAGGCCCAGGGCGAAGATGCCACCCTGTCCAAGCTCATCCCAGGCTGCAGCCCACGCCCCCATGGGTAGCCGGCCCCCACCCCCAAGCCCCACCCCAGAGTCCCACTCCAGACAGGGCTGGGGAGCACAGAGGCCACAGAGCTGTGCCCCCCAGGGCAGGTGGGAGTTTGTCCACCAATGCACAGGACGCCGGGCTTAGTGGGGGCGGGAGGCCTCCTCTGCGTTCACATCCCGGTGCTCCTTCCCCACGGCCCACCGAGCCCTGCCCCCATTCCAACCC
CAAGGGGTCAGGGGTCAGAGCAGGGCCTGCCCTCTGAGACCCTGTCCTAGGGGCTGGGGACGTGCTGGCCTGGTGTGTCATTCCAAGGGCCTAAGCTGCACCACCAGACCCAGGAAGGGGACACCTTGGGTCTAAGCATGATCTTGCCAGTCGCCCCTGCCCCCACTGCACCCTGGTTCTGGGACCCCCTTCTCAGGCACCTTCTCTGCCCGTCCACTCCCTATCCTTCAGGACCAGCCTAGACATAGCTTCCTCCAGAAAATCATCCCTGGCCCCCAGCTGCATGCAGGCTGAACCCTTCCTGTCCCCTTCTCCTTCCTTCCCAGGGCACTGGACTCCAGAGACCCCCTATCTCCCTGAGGGCAGAGCCTAGGAACTCTGTGTCCCTCCCGGCACAATACAGGGCCCATGTCATGGGGGGGTGGGTCTGGTCATTGGTCATGCCTTCCTATCCATTGTGCCAGCTCTGCTGACACTGCCACCCCCCAGCACACGCACACTTGGGTGCACACACGAACACACACATTCTCATGTCTCTGCACTTACCTGTGGGCTGTCTGCACATGGCAGGGCTGGGTCCCCTCCTTGGCCTGCCCTGGCTGGAAGGAAAGGGCTCTGCAGCCCAGTGCTGCCTGCTTCTGGCATAGAGTATGTGCTTGGGAACAGTCTTCCCCACGGGTGACCCCAATGGGTGTTCCCTTTCCCAGGGATTCAGACCATGTCAGCTTCAGTCCAGAGAGCTGTGGCCATGTCCTCCGGGGACGTCCCGGGAGCCCGAGGGGCCGTGGAGGGGATCCTCATCCAGCAGGTGTTTGAGTCAGGTAGACGCTGTGGCGGGGAGATGGGGCTGATGGGGAGACCCAGGCTCCAAGATGGAAGGAGGACCACGCCCCTTTGCATCCTGGTGGTCCCACAGCAGACCGGACTGTTGCTCAGGTAGCCAGAGTTTCTGCCTGTGGTTCTGCTGACTTTGGAGGAGGAGGGTGAGCACTGAAGTCTCCCTGTCGGGGGACCTTCTGCAAGGCCAGCGGTCCAGGCCCACATCCCCACCCGGGATGTACAGCACTCCCCAGTCACCTCCATCCATGTGCATGGGCCCTCCTGGGCCATGGGGTTGCATCCTTAGAAAGTTCTGCCTGTGCTGCTGAGACCCTCCAGGGTATCGGCATTCTTCAACCAGGACAGCCTGTAGCATAGCGTCCTTGCCCCCCATACCCTGGCCAGCCTGCAGCATCCTCGCCCGCCATTCCCTGGCCAGCCGCTGACCCCATGCAATCACCAGTGCCATCTGACCAGGGCACAGCAGGGCCGCTGGTGGCAGACCCACCGTGCCATCGGGGCATTCCATCTCAAGTCCCTGACACGGTGTCTCCTCGGTGCTGGACATGGGCTGGGAACACCAAGCACAGCCAGGGCCCTGGTCTTGCACCTCTGGATGGTCCCAAGGCCCACTGTGTTACTTCCTAAGGCTGTTGGTTAAATTGGCACAAACTGGGAGGCTTGAAATGACAGAAATGCCAACATCGAGGTGTCTCGGGGCCACACTCCCTCTGGAGGCTCCAGGGAAGAATCCTTCCTTGTGTCTCCCAGCTGCTGGTCATTATGGGGGTACCCCTGTGCTCCTTGTTCCTGGGCTCAGGACCCACCGCTCCAGCCTCTGCTTCTGTGGTCTCACAGCTGTCTCCCACGTGTCCTCTTTATAAGGACACCAGTCATTGAACTTATGGTCCAGTGTGACCTCATCTTAACTAATCACATCTACAAAGACCCTGATTTCAAGTAAGGTCACACTCTGAGGTTCTGGGTGGACGTGAACTTCGGGGGACGCTGTTGAACACCCTGGTGTAGATCCAGGACAATCCCCGGGCCCCAGACTCGACTGGGGTGGGGGCGGGCTGGAGGAATGCAGGCTGTGGGAACTCCACCTGTCTCTGCTAGACCCCACCCTGGGGCCTACACGACTGCCAAGGCAGGTCCTGCTGGGCGGGTGAGCCAGGACCAGCCGGCATCTCCTCCCAGGCGGCTCCAAGAAGTGCATCCAGGTTGGCTGGGAGTTCTACACTCCCAGCAAGTTCGAAGACTCCGGCAGTGGGAAGAACAAGGCCCGCAGCAGCAGTGGCCCGAAGCCTCTGGTTCGAGCCAAGGGAGCCCAGGGCGCTGCCCCCGTAAGCACCTGACCTTCCCTGGGGAGCCTGGCTCTTGATGCCCCCCGCCCCAGGAACAGCGTTGCCTCTGGGGGAGTGGCTCTGCTGGGGGCTGGGGGCTGCTGCCGAGAGACGCCTGGTGCCACAGCCATGTGCACCCTCGCTGCTGAGGCTGCCCCCATTGCTGACGCCCCTCTTCCTTGCAGGGTGGAGGTGAGGCTAGGCTGGGCCAGCAGGGCAGCGTTCCCGCCCCTCTGGCCCTCCCCAGTGACCCCCAGCTCCACCAGGTAATGCCCTAGACCACAGGAGAGGCCCCTGTCTGCCCTTGCTCCCCTCGGGTGGGTCCTGCTGCCTCTGCCTTTACCTGGGCACTCAGGGATGAGCACCGGGGCCTGAGCCCCTACCCACAGGGTACAGCTCTTTTTCTTTAATAGACAGTATTTTTTTCCTGATAATACGCAATGGTAATAGTTTAAATGAGTCAGAGAAAGTGAGGTCTTCTCAGGCTCTTAAGAGCATGGCGTTTGGTCCAGGCTGTACCCGCTGCTCTCAGCTGGGCCCGTGGGTGGGCCGGGCGCCCCTGCTATAGCCAGGAGGTCAAGGATCCACTGGGAATGCCATGCTCATCTTTCGTCCCCAGCATGGTTTCTTAATGGGGTAGAAGCAGTGTGGGGGGTGCCTGCCGTGGTGGGTTACAGATCTTGACCACTTGGCACCAGGGGCTCTGTGGGGCCCTGGCACTTAGCAGTGACAGGAGCCAGTCCTGCCCTGCAGGAGCACCCGGGCTGGTGGGCGTCTGGGGGATTGTTAGAATGAGTGAGGTCATTGCCGTGCAGGACCAGCCTAGCCTGGCTGTCTGGGGGGATTCTGGAGGAAGTGGTACCTGGGAGACCCCTGAAGGCACAGCAGGCACCATCCAGGCAGGGCACAAGGACGGTGGGGGCTGCAGGTGGAGGATTCAGCAGGCGCTGAGGTCGGGAGAGACCTCCCTGGGCCTGGCCCCACTGCCCTGTGAGGAAGGGTTCATGTGGTTGGTGTACAGTTCCGGGGCCCCTGGAACGCAGCAGCCTGCAAGAAACCGGGTTTTCTTCCCAATAGGGATGGCCCCGGGGGGTGTCTGTTGGAGACCAGATGGATGGGGAACAGGTGGTCAGGGCAGAATTTCAGGCCCTGGCAGCATGGGAGCAGGGCAGAGACTGGGGAGTTCAGGTACCCAGAGATGCTGCTGGGGGAGCTGTTTTGGGAAGGAGGTGGCTCTCAGGAGGGTGCTGCACCCCAGCCCAGTCTGCATGGGCGTCTCTTGCCTGTGCCAGAAGAATGAGGACGAGTGTGCCGTGTGTCGGGACGGCGGGGAGCTCATCTGCTGTGACGGCTGCCCTCGGGCCTTCCACCTGGCCTGCCTGTCCCCTCCGCTCCGGGAGATCCCCAGGTGAGCCTGCACCTCTGCCAGCGCAACCAGGCCACCCCGGTTCACGGCCGCCTCCACCCACTGACCCTGAAGGGAAGCCACCCCAAGCCTCTCCCATCCAAGATGGAAAGGGGTTCTGAGTCAGGTCACTGGGCCGTGGGGCCGGGGCCTGGGGTTTTCCCACCCTGCCACCTGCCTCCCGGTCTGGCCACACCTGCTGCCCAGCCTGGACAGCTGGGCCCCTGAGGGCAGCAAAGCAGAACAGAGGCCCAGGGCGAAGATGCCACCCTGTCCAAGCTCATCCCAGGCTGCAGCCCACGCCCCCATGGGTAGCCGGCCCCCACCCCCAAGCCCCACCCCAGAGTCCCACTCCAGACAGGGCTGGGGAGCACAGAGGCCACAGAGCTGTGCCCCCCAGGGCAGGTGGGAGTTTGTCCACCAATGCACAGGACGCCGGGCTTAGTGGGGGCGGGAGGCCTCCTCTGCGTTCACATCCCGGTGCTCCTTCCCCACGGCCCACCGAGCCCTGCCCCCATTCCAACCC
Task1_train_28453
Given this context: Chromosome 21, gene CFAP410 (cilia and flagella associated protein 410) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Axial spondylometaphyseal dysplasia
AAGGAAGAGAGAAACAGGTTCATAGGCCCAGGGAACCACACAGGCATGCTCTGGGGGCCTCCGTTGTGTCACACCGTCTGGGATCAGGACTCAGTTCTGAGTAGACCCCCTCGGCCTGCCCTGCCTGATGAGGTGTTAGAACCTGTTCAGCTGCCACTCAGCTGCTGCACCCAGGTGGTCGCCTGTGGCTGATGCCCGGGACAGTGGCTGCCTCCCTCCTGGGCGACGTGGTGTGGCGAGCGCCTGCGTCAGGCCCACTTCTGGCTGCGTGGAGTTGGCGTTTCTGGCATTTCGGGCAGAGTGACGCGACCTCCTGGGCCCTTGGTCCTCTCCTGTGAACTGGGTGAATGGGACAGAGTGTGATGCCAGTGCTGCTCGGCTTGAGAACCCATTTTTGGGGTGACTTGGGGAGGAGTGGAGTGGGACTGTGGGGTGCCCCGGGCTGGACGTGCTTCTGGCTGTCCTCCATGGCTGGGTGCATTGGGTGAGGAGGTGCCGGGAGGGGAACAGGCAGGAGGCGGCAATGGTGGGGACGGGGTAGGGGGAACCGTGGGGCTGAAGGCAGGCAGCTGCCCCCACAGGTCCCACCCAAGGTGTGCATGATGTGGGGCAGGAGGGCGCTGGTGTAAGCCCCGCATGTCCACGGCAGCCCATGTCGGGGGAAGTGGAAGGGACTCAATTTAAAACGACCTCAACCATTCCAACAAAGCGCTTTACTGAGGGCACCCACTCCACAGTCCCAAGGAGGCAGACACAGGCCTGAACTGTCCACCCTCTATGTCCCGAGTGGTGACTCCACTCCCCACTGCTCAGAGATCACACCCCTTCTGGAGAGCTTGCATCCCTTCTGGAGAGCTTGCACGGATGAGTGACTGTCTTCACCCTGGGCTTCCCCAAGTCCGGCGACAGTGGCTGCCCCAGTGCTGCAGCTGGCTCTGGTGACGGTGGCACGGCATGGCCCCGAGCTTGGGAGAACAGCGGCCTGCACACACGGTCACGCATCACCGCTCGGCGGAGGATGGGAATATCTCATGGAGATCTGGATCTCAACCCCACATGGGACAAGGGCCCAGGGACCTGGCTTTCCTACACACCAGCTGGAAGGCTGACTCCCCATCTCACGTGAATGCTTCCTTGGTTTTGGGGGGCACTAGGAAGGTCCCCAGGGCCACGGGTCACTGCCCAGATTGTGGCATCCTCATAAGACTTGCGACTCTTCCCAGAGGAAAGAAAACCCCTCTCAGATGCTCCAAGGACTCCCCTAGTCTAGCTGCTTCCTGTGCCAGGCCCGGACCCCAGGGCGAACAGGCCTGTTCATCCACAACCTCACAGCTGAGGGCCCTCCTGCAGTTCTTCACAGGAGAGAGAAAGGAAGGCGCACCTGCCCAGCCCGGCCAAGAAAACAAAACTCTCTCCCATGGGTGCGGGAGGCTGCTGCCTGCCTGCTGAGCAGCTCAGGGCAGATGTCGCTATGGGTGCCAGCATTCTCGAAGTCTCCCTTGCCCAACAGAAATCTATCCAAGGACCAAGGGCTGGAATCGGCAAAGCCATCCGTGAAGACCTCCTCATTCTGTGGAGAAACGGCCCTTGCTTTCAGGAAGACTGTCACAACCATGCCTTGGGAAACGTCACCTCCAGATCAACCTTGGGAAAATCTTTTATTAGGGAGGACAGCCTGCAAAATCCTCCCTTTAAGAGCCCAGGCCAGCCTAGAACCTCCAGACCACAGAAGGGGAGTCCTGGGGACAGGACTGGTGTAGACAGGCATCTCCACCGCCCCGGTTAGCCAGTACCTAACACCCACTCCTGCCCTCGGCCGATGTGGCAAACCGGGGAGGCTTTTGTGTGGGGCCGGGGCTGCGGCCATGGCAGCCACCCTCCAGCTCCCGGGGGCTGGGGAAGACGCTGGGGTCCCCGTGGAGGCTGGAGCGGCGTTCAGGTCCTGCGGTCACTCGGCGTGCTCCTGCACCTCTTCCCCACGCAGGGCCTGCAGCCGGCTGCCCACAGTCTGCTGCACGGCCTCCAGCCCCTCTGCATCCAGCTCCCGCAGCAGCAGCAGGATGGCAGTCAGGACGTTCTGAGGGCAGAGGGGTGCGGACTAAGCCCACCCGGCACGGCGAGGCTGCTTCCCTCCACAAGGGCTGGGGCCTGGCCAGCGGTGCCCCACCACGGAGCGACTGGTCCCGGGGGTGTGGGCCGTCCAAGTGACTGACCGGCACACTCGGAGAATCTGAGCAGAGGAGCCCCGCCTGTGGACGCGTGTGTGGCACCTCTTCCACGTGACTCCTGTTGCCCTCAGCCCAGCAGGGCCCGGGCCCACATTCCACAGACCAGGACAGCAGGAGAGGCTGAGGGGCCAGGACGGCTCCGTGCGGGGCACGTGTTACACGTGTGTGCGCATTCACAGACCCGCACACGCAGCTCCCCCTGGGGCACAGCTCTTCAAGGCCCTGTGAGGCTCCATGCTCCCTCCCCACGGGGCCCTGTGAGGCTCCATGCTCCCTCCCCACGGTTTCTGTGCAGTGGGTGCAGTGGGCAGAGGCAGCCGCGGCCCCTAGCGGCCCGCCACTCACCCTGCCCCTGTGGCTGCTCGAGGCATCCCTGGCTGAGAGGGAAGGAAACTGGCCCCGGGAAGGCGGCTTCAGGCCACGTTCATCCTGGGCGCCGCTGCTGAGAGGGAGACAAAGGCGTGTGAGGGTCAGGGGGCTCGTGGCACCGGGGGGGCCTCTGCAAACCCTGTCTGCGGGTCGCATCCAAGCAAAGGAGGGGCTCATACAAATCCCACCTGGCACACGGGGGCAAGAGAAGGGAGGCAACTCCTGGGAGGTCAGGGGCTACAGATGGCAGCTCCTGGAGAGCCCGGCACTTACTTCACCTGTGGGGCGCCCTCCCGGCACCCTGGGGCTCCCCAGCTGTAACACCTTCCACCCAGGGCTTCAGGGGCAGGGTGGGGGGCACCCGAACACACAAATGCCGGGGGAGAGCTCCTGACCATGGGGTCAGGCCCTGTGCCGGATGGCAGATGCCTAACAGAGATCACATCCCGATGCCCCCACCACAGGCACCAGCAGCGGGTGTGATCTGCCAAGCAGGAGAGAAGTGCCCAGCTTCTGTCAAATGCGTTCGTGACCCGCTGCCAACTGCCCTGGGAGGCGCCGGCGTCTCACTGCAGAGTCAGCCCTGTGGCCCCTCCACGGCCCCCAGGCCCAAGGCCATACGGGCACTGATGGCCGTGCCCACAAACCATTCCAGTCACTGTGGCCCTAGGCCACCCCCCCCACCAGGGGCTCCCTGCACCTCACGAGCTCTGGTGCTGTGAGCCTTCTCTGTGCCAGGGCACGGGGCCTGGCTCACCCCCTCTCCTGCTCCCTGGCACATCCGCTGTTGGGCAAAACATGGACCTGCCACTGAAATCACTACCTGGGCACTGAGTCACTCCCAGAGAATATGGATGAGAACAGACACTCCCCCCGGATAATCCCTGTCCCTCACTTCCCAGAGACGCAGCTCACGGGAAGCCCCATTCACTCCCCGTGGGAGGACCCTGGGGGACAGGGATGGGCTGCGGAGTCCCCGCTGCCCTCCAGCCTCACGTTGCCTCCTCCTCGCTGTCCAGCGGGTCCCGGCCAGTCTCAGCAGCGGAGCTGAGGGAGCTCAGTGTGCAGCATAGCTTGGGGCCGCCGTGGCCTGTGCCCTCTCTCTCTGGGGCCGCAGTGATCTCCTCTCCCTCACTCAGTGCACGGGACAGCTCCTCCTCCGTCACAGCTTTGGGATGAAAGACAGAAGACAGCATGAGTGGCCTCACCCACGTGCAGGCCACATGCACTGCAGCTCCCGTCCTCACTGTGGCTTCAGGCACAGTCTGCTTGTGAAATGCATGCACGTGTATCCACCTCCAGGGACAACTCCCAGAGTAGCAGCCGGTTCCTCACTGTCCCATCCCCAGCCTGGCACAGGCTGACACACAACAGATGGTGGAGGGCTGCTCAGGAATCTCAACACCAGCCTTGGCCAGAAGCAAATACTCCTCAAAACCTCAACTAAGACACAATAGAAAAAGGAACAGACCATATTGAATTTATTCCATTTCTCTCAT
AAGGAAGAGAGAAACAGGTTCATAGGCCCAGGGAACCACACAGGCATGCTCTGGGGGCCTCCGTTGTGTCACACCGTCTGGGATCAGGACTCAGTTCTGAGTAGACCCCCTCGGCCTGCCCTGCCTGATGAGGTGTTAGAACCTGTTCAGCTGCCACTCAGCTGCTGCACCCAGGTGGTCGCCTGTGGCTGATGCCCGGGACAGTGGCTGCCTCCCTCCTGGGCGACGTGGTGTGGCGAGCGCCTGCGTCAGGCCCACTTCTGGCTGCGTGGAGTTGGCGTTTCTGGCATTTCGGGCAGAGTGACGCGACCTCCTGGGCCCTTGGTCCTCTCCTGTGAACTGGGTGAATGGGACAGAGTGTGATGCCAGTGCTGCTCGGCTTGAGAACCCATTTTTGGGGTGACTTGGGGAGGAGTGGAGTGGGACTGTGGGGTGCCCCGGGCTGGACGTGCTTCTGGCTGTCCTCCATGGCTGGGTGCATTGGGTGAGGAGGTGCCGGGAGGGGAACAGGCAGGAGGCGGCAATGGTGGGGACGGGGTAGGGGGAACCGTGGGGCTGAAGGCAGGCAGCTGCCCCCACAGGTCCCACCCAAGGTGTGCATGATGTGGGGCAGGAGGGCGCTGGTGTAAGCCCCGCATGTCCACGGCAGCCCATGTCGGGGGAAGTGGAAGGGACTCAATTTAAAACGACCTCAACCATTCCAACAAAGCGCTTTACTGAGGGCACCCACTCCACAGTCCCAAGGAGGCAGACACAGGCCTGAACTGTCCACCCTCTATGTCCCGAGTGGTGACTCCACTCCCCACTGCTCAGAGATCACACCCCTTCTGGAGAGCTTGCATCCCTTCTGGAGAGCTTGCACGGATGAGTGACTGTCTTCACCCTGGGCTTCCCCAAGTCCGGCGACAGTGGCTGCCCCAGTGCTGCAGCTGGCTCTGGTGACGGTGGCACGGCATGGCCCCGAGCTTGGGAGAACAGCGGCCTGCACACACGGTCACGCATCACCGCTCGGCGGAGGATGGGAATATCTCATGGAGATCTGGATCTCAACCCCACATGGGACAAGGGCCCAGGGACCTGGCTTTCCTACACACCAGCTGGAAGGCTGACTCCCCATCTCACGTGAATGCTTCCTTGGTTTTGGGGGGCACTAGGAAGGTCCCCAGGGCCACGGGTCACTGCCCAGATTGTGGCATCCTCATAAGACTTGCGACTCTTCCCAGAGGAAAGAAAACCCCTCTCAGATGCTCCAAGGACTCCCCTAGTCTAGCTGCTTCCTGTGCCAGGCCCGGACCCCAGGGCGAACAGGCCTGTTCATCCACAACCTCACAGCTGAGGGCCCTCCTGCAGTTCTTCACAGGAGAGAGAAAGGAAGGCGCACCTGCCCAGCCCGGCCAAGAAAACAAAACTCTCTCCCATGGGTGCGGGAGGCTGCTGCCTGCCTGCTGAGCAGCTCAGGGCAGATGTCGCTATGGGTGCCAGCATTCTCGAAGTCTCCCTTGCCCAACAGAAATCTATCCAAGGACCAAGGGCTGGAATCGGCAAAGCCATCCGTGAAGACCTCCTCATTCTGTGGAGAAACGGCCCTTGCTTTCAGGAAGACTGTCACAACCATGCCTTGGGAAACGTCACCTCCAGATCAACCTTGGGAAAATCTTTTATTAGGGAGGACAGCCTGCAAAATCCTCCCTTTAAGAGCCCAGGCCAGCCTAGAACCTCCAGACCACAGAAGGGGAGTCCTGGGGACAGGACTGGTGTAGACAGGCATCTCCACCGCCCCGGTTAGCCAGTACCTAACACCCACTCCTGCCCTCGGCCGATGTGGCAAACCGGGGAGGCTTTTGTGTGGGGCCGGGGCTGCGGCCATGGCAGCCACCCTCCAGCTCCCGGGGGCTGGGGAAGACGCTGGGGTCCCCGTGGAGGCTGGAGCGGCGTTCAGGTCCTGCGGTCACTCGGCGTGCTCCTGCACCTCTTCCCCACGCAGGGCCTGCAGCCGGCTGCCCACAGTCTGCTGCACGGCCTCCAGCCCCTCTGCATCCAGCTCCCGCGGCAGCAGCAGGATGGCAGTCAGGACGTTCTGAGGGCAGAGGGGTGCGGACTAAGCCCACCCGGCACGGCGAGGCTGCTTCCCTCCACAAGGGCTGGGGCCTGGCCAGCGGTGCCCCACCACGGAGCGACTGGTCCCGGGGGTGTGGGCCGTCCAAGTGACTGACCGGCACACTCGGAGAATCTGAGCAGAGGAGCCCCGCCTGTGGACGCGTGTGTGGCACCTCTTCCACGTGACTCCTGTTGCCCTCAGCCCAGCAGGGCCCGGGCCCACATTCCACAGACCAGGACAGCAGGAGAGGCTGAGGGGCCAGGACGGCTCCGTGCGGGGCACGTGTTACACGTGTGTGCGCATTCACAGACCCGCACACGCAGCTCCCCCTGGGGCACAGCTCTTCAAGGCCCTGTGAGGCTCCATGCTCCCTCCCCACGGGGCCCTGTGAGGCTCCATGCTCCCTCCCCACGGTTTCTGTGCAGTGGGTGCAGTGGGCAGAGGCAGCCGCGGCCCCTAGCGGCCCGCCACTCACCCTGCCCCTGTGGCTGCTCGAGGCATCCCTGGCTGAGAGGGAAGGAAACTGGCCCCGGGAAGGCGGCTTCAGGCCACGTTCATCCTGGGCGCCGCTGCTGAGAGGGAGACAAAGGCGTGTGAGGGTCAGGGGGCTCGTGGCACCGGGGGGGCCTCTGCAAACCCTGTCTGCGGGTCGCATCCAAGCAAAGGAGGGGCTCATACAAATCCCACCTGGCACACGGGGGCAAGAGAAGGGAGGCAACTCCTGGGAGGTCAGGGGCTACAGATGGCAGCTCCTGGAGAGCCCGGCACTTACTTCACCTGTGGGGCGCCCTCCCGGCACCCTGGGGCTCCCCAGCTGTAACACCTTCCACCCAGGGCTTCAGGGGCAGGGTGGGGGGCACCCGAACACACAAATGCCGGGGGAGAGCTCCTGACCATGGGGTCAGGCCCTGTGCCGGATGGCAGATGCCTAACAGAGATCACATCCCGATGCCCCCACCACAGGCACCAGCAGCGGGTGTGATCTGCCAAGCAGGAGAGAAGTGCCCAGCTTCTGTCAAATGCGTTCGTGACCCGCTGCCAACTGCCCTGGGAGGCGCCGGCGTCTCACTGCAGAGTCAGCCCTGTGGCCCCTCCACGGCCCCCAGGCCCAAGGCCATACGGGCACTGATGGCCGTGCCCACAAACCATTCCAGTCACTGTGGCCCTAGGCCACCCCCCCCACCAGGGGCTCCCTGCACCTCACGAGCTCTGGTGCTGTGAGCCTTCTCTGTGCCAGGGCACGGGGCCTGGCTCACCCCCTCTCCTGCTCCCTGGCACATCCGCTGTTGGGCAAAACATGGACCTGCCACTGAAATCACTACCTGGGCACTGAGTCACTCCCAGAGAATATGGATGAGAACAGACACTCCCCCCGGATAATCCCTGTCCCTCACTTCCCAGAGACGCAGCTCACGGGAAGCCCCATTCACTCCCCGTGGGAGGACCCTGGGGGACAGGGATGGGCTGCGGAGTCCCCGCTGCCCTCCAGCCTCACGTTGCCTCCTCCTCGCTGTCCAGCGGGTCCCGGCCAGTCTCAGCAGCGGAGCTGAGGGAGCTCAGTGTGCAGCATAGCTTGGGGCCGCCGTGGCCTGTGCCCTCTCTCTCTGGGGCCGCAGTGATCTCCTCTCCCTCACTCAGTGCACGGGACAGCTCCTCCTCCGTCACAGCTTTGGGATGAAAGACAGAAGACAGCATGAGTGGCCTCACCCACGTGCAGGCCACATGCACTGCAGCTCCCGTCCTCACTGTGGCTTCAGGCACAGTCTGCTTGTGAAATGCATGCACGTGTATCCACCTCCAGGGACAACTCCCAGAGTAGCAGCCGGTTCCTCACTGTCCCATCCCCAGCCTGGCACAGGCTGACACACAACAGATGGTGGAGGGCTGCTCAGGAATCTCAACACCAGCCTTGGCCAGAAGCAAATACTCCTCAAAACCTCAACTAAGACACAATAGAAAAAGGAACAGACCATATTGAATTTATTCCATTTCTCTCAT
Task1_train_28454
This variant affects gene CFAP410 (cilia and flagella associated protein 410) located on Chromosome 21. Evaluate its biological effect and specify any disease association.
Pathogenic; Axial spondylometaphyseal dysplasia
ATGGTGGGGACGGGGTAGGGGGAACCGTGGGGCTGAAGGCAGGCAGCTGCCCCCACAGGTCCCACCCAAGGTGTGCATGATGTGGGGCAGGAGGGCGCTGGTGTAAGCCCCGCATGTCCACGGCAGCCCATGTCGGGGGAAGTGGAAGGGACTCAATTTAAAACGACCTCAACCATTCCAACAAAGCGCTTTACTGAGGGCACCCACTCCACAGTCCCAAGGAGGCAGACACAGGCCTGAACTGTCCACCCTCTATGTCCCGAGTGGTGACTCCACTCCCCACTGCTCAGAGATCACACCCCTTCTGGAGAGCTTGCATCCCTTCTGGAGAGCTTGCACGGATGAGTGACTGTCTTCACCCTGGGCTTCCCCAAGTCCGGCGACAGTGGCTGCCCCAGTGCTGCAGCTGGCTCTGGTGACGGTGGCACGGCATGGCCCCGAGCTTGGGAGAACAGCGGCCTGCACACACGGTCACGCATCACCGCTCGGCGGAGGATGGGAATATCTCATGGAGATCTGGATCTCAACCCCACATGGGACAAGGGCCCAGGGACCTGGCTTTCCTACACACCAGCTGGAAGGCTGACTCCCCATCTCACGTGAATGCTTCCTTGGTTTTGGGGGGCACTAGGAAGGTCCCCAGGGCCACGGGTCACTGCCCAGATTGTGGCATCCTCATAAGACTTGCGACTCTTCCCAGAGGAAAGAAAACCCCTCTCAGATGCTCCAAGGACTCCCCTAGTCTAGCTGCTTCCTGTGCCAGGCCCGGACCCCAGGGCGAACAGGCCTGTTCATCCACAACCTCACAGCTGAGGGCCCTCCTGCAGTTCTTCACAGGAGAGAGAAAGGAAGGCGCACCTGCCCAGCCCGGCCAAGAAAACAAAACTCTCTCCCATGGGTGCGGGAGGCTGCTGCCTGCCTGCTGAGCAGCTCAGGGCAGATGTCGCTATGGGTGCCAGCATTCTCGAAGTCTCCCTTGCCCAACAGAAATCTATCCAAGGACCAAGGGCTGGAATCGGCAAAGCCATCCGTGAAGACCTCCTCATTCTGTGGAGAAACGGCCCTTGCTTTCAGGAAGACTGTCACAACCATGCCTTGGGAAACGTCACCTCCAGATCAACCTTGGGAAAATCTTTTATTAGGGAGGACAGCCTGCAAAATCCTCCCTTTAAGAGCCCAGGCCAGCCTAGAACCTCCAGACCACAGAAGGGGAGTCCTGGGGACAGGACTGGTGTAGACAGGCATCTCCACCGCCCCGGTTAGCCAGTACCTAACACCCACTCCTGCCCTCGGCCGATGTGGCAAACCGGGGAGGCTTTTGTGTGGGGCCGGGGCTGCGGCCATGGCAGCCACCCTCCAGCTCCCGGGGGCTGGGGAAGACGCTGGGGTCCCCGTGGAGGCTGGAGCGGCGTTCAGGTCCTGCGGTCACTCGGCGTGCTCCTGCACCTCTTCCCCACGCAGGGCCTGCAGCCGGCTGCCCACAGTCTGCTGCACGGCCTCCAGCCCCTCTGCATCCAGCTCCCGCAGCAGCAGCAGGATGGCAGTCAGGACGTTCTGAGGGCAGAGGGGTGCGGACTAAGCCCACCCGGCACGGCGAGGCTGCTTCCCTCCACAAGGGCTGGGGCCTGGCCAGCGGTGCCCCACCACGGAGCGACTGGTCCCGGGGGTGTGGGCCGTCCAAGTGACTGACCGGCACACTCGGAGAATCTGAGCAGAGGAGCCCCGCCTGTGGACGCGTGTGTGGCACCTCTTCCACGTGACTCCTGTTGCCCTCAGCCCAGCAGGGCCCGGGCCCACATTCCACAGACCAGGACAGCAGGAGAGGCTGAGGGGCCAGGACGGCTCCGTGCGGGGCACGTGTTACACGTGTGTGCGCATTCACAGACCCGCACACGCAGCTCCCCCTGGGGCACAGCTCTTCAAGGCCCTGTGAGGCTCCATGCTCCCTCCCCACGGGGCCCTGTGAGGCTCCATGCTCCCTCCCCACGGTTTCTGTGCAGTGGGTGCAGTGGGCAGAGGCAGCCGCGGCCCCTAGCGGCCCGCCACTCACCCTGCCCCTGTGGCTGCTCGAGGCATCCCTGGCTGAGAGGGAAGGAAACTGGCCCCGGGAAGGCGGCTTCAGGCCACGTTCATCCTGGGCGCCGCTGCTGAGAGGGAGACAAAGGCGTGTGAGGGTCAGGGGGCTCGTGGCACCGGGGGGGCCTCTGCAAACCCTGTCTGCGGGTCGCATCCAAGCAAAGGAGGGGCTCATACAAATCCCACCTGGCACACGGGGGCAAGAGAAGGGAGGCAACTCCTGGGAGGTCAGGGGCTACAGATGGCAGCTCCTGGAGAGCCCGGCACTTACTTCACCTGTGGGGCGCCCTCCCGGCACCCTGGGGCTCCCCAGCTGTAACACCTTCCACCCAGGGCTTCAGGGGCAGGGTGGGGGGCACCCGAACACACAAATGCCGGGGGAGAGCTCCTGACCATGGGGTCAGGCCCTGTGCCGGATGGCAGATGCCTAACAGAGATCACATCCCGATGCCCCCACCACAGGCACCAGCAGCGGGTGTGATCTGCCAAGCAGGAGAGAAGTGCCCAGCTTCTGTCAAATGCGTTCGTGACCCGCTGCCAACTGCCCTGGGAGGCGCCGGCGTCTCACTGCAGAGTCAGCCCTGTGGCCCCTCCACGGCCCCCAGGCCCAAGGCCATACGGGCACTGATGGCCGTGCCCACAAACCATTCCAGTCACTGTGGCCCTAGGCCACCCCCCCCACCAGGGGCTCCCTGCACCTCACGAGCTCTGGTGCTGTGAGCCTTCTCTGTGCCAGGGCACGGGGCCTGGCTCACCCCCTCTCCTGCTCCCTGGCACATCCGCTGTTGGGCAAAACATGGACCTGCCACTGAAATCACTACCTGGGCACTGAGTCACTCCCAGAGAATATGGATGAGAACAGACACTCCCCCCGGATAATCCCTGTCCCTCACTTCCCAGAGACGCAGCTCACGGGAAGCCCCATTCACTCCCCGTGGGAGGACCCTGGGGGACAGGGATGGGCTGCGGAGTCCCCGCTGCCCTCCAGCCTCACGTTGCCTCCTCCTCGCTGTCCAGCGGGTCCCGGCCAGTCTCAGCAGCGGAGCTGAGGGAGCTCAGTGTGCAGCATAGCTTGGGGCCGCCGTGGCCTGTGCCCTCTCTCTCTGGGGCCGCAGTGATCTCCTCTCCCTCACTCAGTGCACGGGACAGCTCCTCCTCCGTCACAGCTTTGGGATGAAAGACAGAAGACAGCATGAGTGGCCTCACCCACGTGCAGGCCACATGCACTGCAGCTCCCGTCCTCACTGTGGCTTCAGGCACAGTCTGCTTGTGAAATGCATGCACGTGTATCCACCTCCAGGGACAACTCCCAGAGTAGCAGCCGGTTCCTCACTGTCCCATCCCCAGCCTGGCACAGGCTGACACACAACAGATGGTGGAGGGCTGCTCAGGAATCTCAACACCAGCCTTGGCCAGAAGCAAATACTCCTCAAAACCTCAACTAAGACACAATAGAAAAAGGAACAGACCATATTGAATTTATTCCATTTCTCTCATATATCAATTTCCCTGAAGTTTATATTATTAATATCAATAAAATTGTCTGGGAGAAAATAGTGGTGTCTGTATACCTGACAAGGATGAGACACTAGTGTGCTGAGAATGCCAAGGATGAACAAACAGCATGAAACCACAGCCTGGAAAACTGTGTCGGTGCTGGCGCTGGCTAGAGGAGGCACGAGTGCCTCCAATAGGTGGAGCGCAGCAGCAGGCACTGCGGTGCTGGGACGGCCCCTCCCCACGGCAGGGGCGCGATGGCACCGCCACCCTAGGTTCACAGTGGCCCGTGGAGCCTGCCCAGTCCCTGTGGACCAGTGCGATGCTGCTTGCCAGATACTGACGCCCCCGCTCGCCATGGCGCATGGCGATGGTCAGAGCAGGGCTGCTACTCACAGAAGCAAAAGAAGGAACCCTTTTGCTTTGCTACCAGGTCCTGCGGTCGTTGGGGGATACCCAAACTGTCAGTCCCAGGAGGGACCCTACGCTGCGCTGCTGCATTCGGGTGGCGGGATCAAGAGGA
ATGGTGGGGACGGGGTAGGGGGAACCGTGGGGCTGAAGGCAGGCAGCTGCCCCCACAGGTCCCACCCAAGGTGTGCATGATGTGGGGCAGGAGGGCGCTGGTGTAAGCCCCGCATGTCCACGGCAGCCCATGTCGGGGGAAGTGGAAGGGACTCAATTTAAAACGACCTCAACCATTCCAACAAAGCGCTTTACTGAGGGCACCCACTCCACAGTCCCAAGGAGGCAGACACAGGCCTGAACTGTCCACCCTCTATGTCCCGAGTGGTGACTCCACTCCCCACTGCTCAGAGATCACACCCCTTCTGGAGAGCTTGCATCCCTTCTGGAGAGCTTGCACGGATGAGTGACTGTCTTCACCCTGGGCTTCCCCAAGTCCGGCGACAGTGGCTGCCCCAGTGCTGCAGCTGGCTCTGGTGACGGTGGCACGGCATGGCCCCGAGCTTGGGAGAACAGCGGCCTGCACACACGGTCACGCATCACCGCTCGGCGGAGGATGGGAATATCTCATGGAGATCTGGATCTCAACCCCACATGGGACAAGGGCCCAGGGACCTGGCTTTCCTACACACCAGCTGGAAGGCTGACTCCCCATCTCACGTGAATGCTTCCTTGGTTTTGGGGGGCACTAGGAAGGTCCCCAGGGCCACGGGTCACTGCCCAGATTGTGGCATCCTCATAAGACTTGCGACTCTTCCCAGAGGAAAGAAAACCCCTCTCAGATGCTCCAAGGACTCCCCTAGTCTAGCTGCTTCCTGTGCCAGGCCCGGACCCCAGGGCGAACAGGCCTGTTCATCCACAACCTCACAGCTGAGGGCCCTCCTGCAGTTCTTCACAGGAGAGAGAAAGGAAGGCGCACCTGCCCAGCCCGGCCAAGAAAACAAAACTCTCTCCCATGGGTGCGGGAGGCTGCTGCCTGCCTGCTGAGCAGCTCAGGGCAGATGTCGCTATGGGTGCCAGCATTCTCGAAGTCTCCCTTGCCCAACAGAAATCTATCCAAGGACCAAGGGCTGGAATCGGCAAAGCCATCCGTGAAGACCTCCTCATTCTGTGGAGAAACGGCCCTTGCTTTCAGGAAGACTGTCACAACCATGCCTTGGGAAACGTCACCTCCAGATCAACCTTGGGAAAATCTTTTATTAGGGAGGACAGCCTGCAAAATCCTCCCTTTAAGAGCCCAGGCCAGCCTAGAACCTCCAGACCACAGAAGGGGAGTCCTGGGGACAGGACTGGTGTAGACAGGCATCTCCACCGCCCCGGTTAGCCAGTACCTAACACCCACTCCTGCCCTCGGCCGATGTGGCAAACCGGGGAGGCTTTTGTGTGGGGCCGGGGCTGCGGCCATGGCAGCCACCCTCCAGCTCCCGGGGGCTGGGGAAGACGCTGGGGTCCCCGTGGAGGCTGGAGCGGCGTTCAGGTCCTGCGGTCACTCGGCGTGCTCCTGCACCTCTTCCCCACGCAGGGCCTGCAGCCGGCTGCCCACAGTCTGCTGCACGGCCTCCAGCCCCTCTGCATCCAGCTCCCGCAGCAGCAGCAGGATGGCAGTCAGGACGTTCTGAGGGCAGAGGGGTGCGGACTAAGCCCACCCGGCACGGCGAGGCTGCTTCCCTCCACAAGGGCTGGGGCCTGGCCAGCGGTGCCCCACCACGGAGCGACTGGTCCCGGGGGTGTGGGCCGTCCAAGTGACTGACCGGCACACTCGGAGAATCTGAGCAGAGGAGCCCCGCCTGTGGACGCGTGTGTGGCACCTCTTCCACGTGACTCCTGTTGCCCTCAGCCCAGCAGGGCCCGGGCCCACATTCCACAGACCAGGACAGCAGGAGAGGCTGAGGGGCCAGGACGGCTCCGTGCGGGGCACGTGTTACACGTGTGTGCGCATTCACAGACCCGCACACGCAGCTCCCCCTGGGGCACAGCTCTTCAAGGCCCTGTGAGGCTCCATGCTCCCTCCCCACGGGGCCCTGTGAGGCTCCATGCTCCCTCCCCACGGTTTCTGTGCAGTGGGTGCAGTGGGCAGAGGCAGCCGCGGCCCCTAGCGGCCCGCCACTCGCCCTGCCCCTGTGGCTGCTCGAGGCATCCCTGGCTGAGAGGGAAGGAAACTGGCCCCGGGAAGGCGGCTTCAGGCCACGTTCATCCTGGGCGCCGCTGCTGAGAGGGAGACAAAGGCGTGTGAGGGTCAGGGGGCTCGTGGCACCGGGGGGGCCTCTGCAAACCCTGTCTGCGGGTCGCATCCAAGCAAAGGAGGGGCTCATACAAATCCCACCTGGCACACGGGGGCAAGAGAAGGGAGGCAACTCCTGGGAGGTCAGGGGCTACAGATGGCAGCTCCTGGAGAGCCCGGCACTTACTTCACCTGTGGGGCGCCCTCCCGGCACCCTGGGGCTCCCCAGCTGTAACACCTTCCACCCAGGGCTTCAGGGGCAGGGTGGGGGGCACCCGAACACACAAATGCCGGGGGAGAGCTCCTGACCATGGGGTCAGGCCCTGTGCCGGATGGCAGATGCCTAACAGAGATCACATCCCGATGCCCCCACCACAGGCACCAGCAGCGGGTGTGATCTGCCAAGCAGGAGAGAAGTGCCCAGCTTCTGTCAAATGCGTTCGTGACCCGCTGCCAACTGCCCTGGGAGGCGCCGGCGTCTCACTGCAGAGTCAGCCCTGTGGCCCCTCCACGGCCCCCAGGCCCAAGGCCATACGGGCACTGATGGCCGTGCCCACAAACCATTCCAGTCACTGTGGCCCTAGGCCACCCCCCCCACCAGGGGCTCCCTGCACCTCACGAGCTCTGGTGCTGTGAGCCTTCTCTGTGCCAGGGCACGGGGCCTGGCTCACCCCCTCTCCTGCTCCCTGGCACATCCGCTGTTGGGCAAAACATGGACCTGCCACTGAAATCACTACCTGGGCACTGAGTCACTCCCAGAGAATATGGATGAGAACAGACACTCCCCCCGGATAATCCCTGTCCCTCACTTCCCAGAGACGCAGCTCACGGGAAGCCCCATTCACTCCCCGTGGGAGGACCCTGGGGGACAGGGATGGGCTGCGGAGTCCCCGCTGCCCTCCAGCCTCACGTTGCCTCCTCCTCGCTGTCCAGCGGGTCCCGGCCAGTCTCAGCAGCGGAGCTGAGGGAGCTCAGTGTGCAGCATAGCTTGGGGCCGCCGTGGCCTGTGCCCTCTCTCTCTGGGGCCGCAGTGATCTCCTCTCCCTCACTCAGTGCACGGGACAGCTCCTCCTCCGTCACAGCTTTGGGATGAAAGACAGAAGACAGCATGAGTGGCCTCACCCACGTGCAGGCCACATGCACTGCAGCTCCCGTCCTCACTGTGGCTTCAGGCACAGTCTGCTTGTGAAATGCATGCACGTGTATCCACCTCCAGGGACAACTCCCAGAGTAGCAGCCGGTTCCTCACTGTCCCATCCCCAGCCTGGCACAGGCTGACACACAACAGATGGTGGAGGGCTGCTCAGGAATCTCAACACCAGCCTTGGCCAGAAGCAAATACTCCTCAAAACCTCAACTAAGACACAATAGAAAAAGGAACAGACCATATTGAATTTATTCCATTTCTCTCATATATCAATTTCCCTGAAGTTTATATTATTAATATCAATAAAATTGTCTGGGAGAAAATAGTGGTGTCTGTATACCTGACAAGGATGAGACACTAGTGTGCTGAGAATGCCAAGGATGAACAAACAGCATGAAACCACAGCCTGGAAAACTGTGTCGGTGCTGGCGCTGGCTAGAGGAGGCACGAGTGCCTCCAATAGGTGGAGCGCAGCAGCAGGCACTGCGGTGCTGGGACGGCCCCTCCCCACGGCAGGGGCGCGATGGCACCGCCACCCTAGGTTCACAGTGGCCCGTGGAGCCTGCCCAGTCCCTGTGGACCAGTGCGATGCTGCTTGCCAGATACTGACGCCCCCGCTCGCCATGGCGCATGGCGATGGTCAGAGCAGGGCTGCTACTCACAGAAGCAAAAGAAGGAACCCTTTTGCTTTGCTACCAGGTCCTGCGGTCGTTGGGGGATACCCAAACTGTCAGTCCCAGGAGGGACCCTACGCTGCGCTGCTGCATTCGGGTGGCGGGATCAAGAGGA
Task1_train_28455
This mutation is located in gene CFAP410 (cilia and flagella associated protein 410) on Chromosome 21. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Retinal dystrophy
AATCCCACCTGGCACACGGGGGCAAGAGAAGGGAGGCAACTCCTGGGAGGTCAGGGGCTACAGATGGCAGCTCCTGGAGAGCCCGGCACTTACTTCACCTGTGGGGCGCCCTCCCGGCACCCTGGGGCTCCCCAGCTGTAACACCTTCCACCCAGGGCTTCAGGGGCAGGGTGGGGGGCACCCGAACACACAAATGCCGGGGGAGAGCTCCTGACCATGGGGTCAGGCCCTGTGCCGGATGGCAGATGCCTAACAGAGATCACATCCCGATGCCCCCACCACAGGCACCAGCAGCGGGTGTGATCTGCCAAGCAGGAGAGAAGTGCCCAGCTTCTGTCAAATGCGTTCGTGACCCGCTGCCAACTGCCCTGGGAGGCGCCGGCGTCTCACTGCAGAGTCAGCCCTGTGGCCCCTCCACGGCCCCCAGGCCCAAGGCCATACGGGCACTGATGGCCGTGCCCACAAACCATTCCAGTCACTGTGGCCCTAGGCCACCCCCCCCACCAGGGGCTCCCTGCACCTCACGAGCTCTGGTGCTGTGAGCCTTCTCTGTGCCAGGGCACGGGGCCTGGCTCACCCCCTCTCCTGCTCCCTGGCACATCCGCTGTTGGGCAAAACATGGACCTGCCACTGAAATCACTACCTGGGCACTGAGTCACTCCCAGAGAATATGGATGAGAACAGACACTCCCCCCGGATAATCCCTGTCCCTCACTTCCCAGAGACGCAGCTCACGGGAAGCCCCATTCACTCCCCGTGGGAGGACCCTGGGGGACAGGGATGGGCTGCGGAGTCCCCGCTGCCCTCCAGCCTCACGTTGCCTCCTCCTCGCTGTCCAGCGGGTCCCGGCCAGTCTCAGCAGCGGAGCTGAGGGAGCTCAGTGTGCAGCATAGCTTGGGGCCGCCGTGGCCTGTGCCCTCTCTCTCTGGGGCCGCAGTGATCTCCTCTCCCTCACTCAGTGCACGGGACAGCTCCTCCTCCGTCACAGCTTTGGGATGAAAGACAGAAGACAGCATGAGTGGCCTCACCCACGTGCAGGCCACATGCACTGCAGCTCCCGTCCTCACTGTGGCTTCAGGCACAGTCTGCTTGTGAAATGCATGCACGTGTATCCACCTCCAGGGACAACTCCCAGAGTAGCAGCCGGTTCCTCACTGTCCCATCCCCAGCCTGGCACAGGCTGACACACAACAGATGGTGGAGGGCTGCTCAGGAATCTCAACACCAGCCTTGGCCAGAAGCAAATACTCCTCAAAACCTCAACTAAGACACAATAGAAAAAGGAACAGACCATATTGAATTTATTCCATTTCTCTCATATATCAATTTCCCTGAAGTTTATATTATTAATATCAATAAAATTGTCTGGGAGAAAATAGTGGTGTCTGTATACCTGACAAGGATGAGACACTAGTGTGCTGAGAATGCCAAGGATGAACAAACAGCATGAAACCACAGCCTGGAAAACTGTGTCGGTGCTGGCGCTGGCTAGAGGAGGCACGAGTGCCTCCAATAGGTGGAGCGCAGCAGCAGGCACTGCGGTGCTGGGACGGCCCCTCCCCACGGCAGGGGCGCGATGGCACCGCCACCCTAGGTTCACAGTGGCCCGTGGAGCCTGCCCAGTCCCTGTGGACCAGTGCGATGCTGCTTGCCAGATACTGACGCCCCCGCTCGCCATGGCGCATGGCGATGGTCAGAGCAGGGCTGCTACTCACAGAAGCAAAAGAAGGAACCCTTTTGCTTTGCTACCAGGTCCTGCGGTCGTTGGGGGATACCCAAACTGTCAGTCCCAGGAGGGACCCTACGCTGCGCTGCTGCATTCGGGTGGCGGGATCAAGAGGAGACACAGAAGCCAGGGGAACAGCCTCTGGAGGAGACTTCACAGGACACATCTATGTCCCGCCAGACCAGGTATTTGCAGAAAAGGAGAAGAGAAAAGAGGGCTGGGGACATCCCCTTCCAGGGATTGTTTTGGGAGGGCCGGTGACTCCGCTGCGGCCACCTACCCTGGTTGTCCAGCTTCTGTAGGCGCGGCAGGGTGCGCAGCACGGTCATGCGGTAGCGGTGGGGGCTGGTGCCGCAGCACGGGTTCTCGGCCAGCCACAGCACCCGCAGACGCGGCAGCCCCTTCAGGTAGAAGAGCTCAGCCAGGCTGGGGATGCGGTTCCTCCGCAGGTACAGCTCACTCAGGCGCTGGCACCGGCTCACAGGCTCCAGGGTGGAGATGCTGTTGACACTGCACGGAGACCAGCACAGTCAGCGAGGGACGTGGCCAGGGCCCCCAGGGCCACCTCTCAATCCCCACCCCCAGTAAAAGGCACTCATGGGACCTGTGTCCCTGCCCTCTCCTGAGAAGCCTAAATCGGATGTCACAAGTCACGTGCAGCAGGACCTGGGCCGAGGAGAGAGCTGTAGGAAGGCCAGGCCCTGAACTCAAAGGCGGACTGGGGTGGACCCCACCAGCAACAGCCCCTTGGCCCGACGCTCCACATCAGCTCCTCAGGGCGCTAGAGTGCGGGAGGTGGGGGATGTGGCCCTCCTTCACAGGTGAGGAAAATTAAGGCCTCTCAGGGGACATATCATGTTGCCCCAAAGCAGGGAGCGGCCAGAAAAACTCATGGCAAAAACTAGGAGCCAGCTCCACGTGACATGGGAGTGAGCACGGACCTTCCAAACCCCCACTTGAGGGCGGCAACACTGGGGATGGGCCTCATTTCCATTCTACAGAACGTGGACGCGTCAGAGAAGAGAAACAGCAGGCCTGGAGCGGGGACCTGCAGGCTTTACCCTGCAGCGTGGGGTCCGTCCCCTCCACAAGCGAACACGCGGAGCCGCTCCCGCAGGCCCTCAAAGGCGCGGAGCCAGGGCCCCCTGCCTGGAGGGCTGCACTCGCGTCCGGCAGGCGCCTCAGAAGGGCGGTCACCAGGCCCCCATGGGCAGCCTGCCGTCCTGAGCCCCCCTCCCCATGCCATCCCTTCACTCGGGGTTTCCCAGGTCTCATGCAGCTCCTAGCTATGAGGCCGCCCCATTTTACCAAGAGCAAAACTCCGGCTGTGGGACTCTTTCCAGGATGGGGTCTGCCTCAGGCACAGGCAGCAGCGTGATGTACCGACCGCGTCCGCGGCCTCGAGGCTTCCTGCTCCGCTCCAGTGCAGTCAGGCGTGCAGGCACCACGCACCTGAGCTCGGTCAACACCCCTGGGGTCCTGTCCCTCCCGAGATGTGACAGAAATGGCCCCACACACGAGCGGCCTGATGCTCGGAGGCCCTGTGGCCCCTGGGTGACTCAGTGAGCGGCAGGGATAGGGCTGGATCCACAGCCCCGCCCCAAGCTTCCTGCCACCGTGGGAACCACAAGCTCCACGTTTCCCTGTCAGGTAAGCCTTTCGGAGGCAGGCCTGAAATCCCAGCCTCACTGTGTCGCCTGACTAGTGAAACGAGCCCCGCGGCAGGCACGCGCACCCCCCCTCAACCTCTGGGCGGGCACGCGCACCCCCCCCCCCCCCCCGCTCAACCTCTGGGCGGGCACGCGCACCCCTGCTCAACCTCTGGACTCGGGCTCCATCTCCTCCTCATCTCCCTGTGGGGTGGGCACTTGTAATACCTCCATGTTACAGAAAGGAAACTGAGGCACAGAGAGGGCCATGCCTCGCCCAAGGTTAGCCAGCCAATAGATGGGAGGGCTGAGATTTGACCCATGAGCATGCCTCCAAGCCCATTTCATTCATTCAGCAAGGCTCGGGCAGGACAGGCTGGTGCCCGCGCTGGGGATGCCTGAACACCAGATGGACTGGCCTCAGCCCATGGCGGGCAGCAGGCTGGGCACGGGCATCAACATGGCAATGCCAACCTCAGAGGGCATTACGGAGGATGGGCAGGGGCTGGCCTACCCCGTGGCTGCCTGTGAGATCAAGAAGGTAGGTCACAGTCAGGGACCAGGGGCCTGCAATACCCACTCTCAGAGGGCAAGCCCTAGAGACTTCTGAGCTGCCAGAGGGGTGGGCCTTCCCCACAGGGTTTAAACCCTTGTGAGCTTTTAAATGCGGAAACCCACAGAAGGCGCCCATCCAGCGTCTGGTGGGCAGTGGTGAGCCATG
AATCCCACCTGGCACACGGGGGCAAGAGAAGGGAGGCAACTCCTGGGAGGTCAGGGGCTACAGATGGCAGCTCCTGGAGAGCCCGGCACTTACTTCACCTGTGGGGCGCCCTCCCGGCACCCTGGGGCTCCCCAGCTGTAACACCTTCCACCCAGGGCTTCAGGGGCAGGGTGGGGGGCACCCGAACACACAAATGCCGGGGGAGAGCTCCTGACCATGGGGTCAGGCCCTGTGCCGGATGGCAGATGCCTAACAGAGATCACATCCCGATGCCCCCACCACAGGCACCAGCAGCGGGTGTGATCTGCCAAGCAGGAGAGAAGTGCCCAGCTTCTGTCAAATGCGTTCGTGACCCGCTGCCAACTGCCCTGGGAGGCGCCGGCGTCTCACTGCAGAGTCAGCCCTGTGGCCCCTCCACGGCCCCCAGGCCCAAGGCCATACGGGCACTGATGGCCGTGCCCACAAACCATTCCAGTCACTGTGGCCCTAGGCCACCCCCCCCACCAGGGGCTCCCTGCACCTCACGAGCTCTGGTGCTGTGAGCCTTCTCTGTGCCAGGGCACGGGGCCTGGCTCACCCCCTCTCCTGCTCCCTGGCACATCCGCTGTTGGGCAAAACATGGACCTGCCACTGAAATCACTACCTGGGCACTGAGTCACTCCCAGAGAATATGGATGAGAACAGACACTCCCCCCGGATAATCCCTGTCCCTCACTTCCCAGAGACGCAGCTCACGGGAAGCCCCATTCACTCCCCGTGGGAGGACCCTGGGGGACAGGGATGGGCTGCGGAGTCCCCGCTGCCCTCCAGCCTCACGTTGCCTCCTCCTCGCTGTCCAGCGGGTCCCGGCCAGTCTCAGCAGCGGAGCTGAGGGAGCTCAGTGTGCAGCATAGCTTGGGGCCGCCGTGGCCTGTGCCCTCTCTCTCTGGGGCCGCAGTGATCTCCTCTCCCTCACTCAGTGCACGGGACAGCTCCTCCTCCGTCACAGCTTTGGGATGAAAGACAGAAGACAGCATGAGTGGCCTCACCCACGTGCAGGCCACATGCACTGCAGCTCCCGTCCTCACTGTGGCTTCAGGCACAGTCTGCTTGTGAAATGCATGCACGTGTATCCACCTCCAGGGACAACTCCCAGAGTAGCAGCCGGTTCCTCACTGTCCCATCCCCAGCCTGGCACAGGCTGACACACAACAGATGGTGGAGGGCTGCTCAGGAATCTCAACACCAGCCTTGGCCAGAAGCAAATACTCCTCAAAACCTCAACTAAGACACAATAGAAAAAGGAACAGACCATATTGAATTTATTCCATTTCTCTCATATATCAATTTCCCTGAAGTTTATATTATTAATATCAATAAAATTGTCTGGGAGAAAATAGTGGTGTCTGTATACCTGACAAGGATGAGACACTAGTGTGCTGAGAATGCCAAGGATGAACAAACAGCATGAAACCACAGCCTGGAAAACTGTGTCGGTGCTGGCGCTGGCTAGAGGAGGCACGAGTGCCTCCAATAGGTGGAGCGCAGCAGCAGGCACTGCGGTGCTGGGACGGCCCCTCCCCACGGCAGGGGCGCGATGGCACCGCCACCCTAGGTTCACAGTGGCCCGTGGAGCCTGCCCAGTCCCTGTGGACCAGTGCGATGCTGCTTGCCAGATACTGACGCCCCCGCTCGCCATGGCGCATGGCGATGGTCAGAGCAGGGCTGCTACTCACAGAAGCAAAAGAAGGAACCCTTTTGCTTTGCTACCAGGTCCTGCGGTCGTTGGGGGATACCCAAACTGTCAGTCCCAGGAGGGACCCTACGCTGCGCTGCTGCATTCGGGTGGCGGGATCAAGAGGAGACACAGAAGCCAGGGGAACAGCCTCTGGAGGAGACTTCACAGGACACATCTATGTCCCGCCAGACCAGGTATTTGCAGAAAAGGAGAAGAGAAAAGAGGGCTGGGGACATCCCCTTCCAGGGATTGTTTTGGGAGGGCCGGTGACTCCGCTGCGGCCACCTACCCTGGTTGTCCAGCTTCTGTAGGCGCGGCAGGGTGCGCAGCATGGTCATGCGGTAGCGGTGGGGGCTGGTGCCGCAGCACGGGTTCTCGGCCAGCCACAGCACCCGCAGACGCGGCAGCCCCTTCAGGTAGAAGAGCTCAGCCAGGCTGGGGATGCGGTTCCTCCGCAGGTACAGCTCACTCAGGCGCTGGCACCGGCTCACAGGCTCCAGGGTGGAGATGCTGTTGACACTGCACGGAGACCAGCACAGTCAGCGAGGGACGTGGCCAGGGCCCCCAGGGCCACCTCTCAATCCCCACCCCCAGTAAAAGGCACTCATGGGACCTGTGTCCCTGCCCTCTCCTGAGAAGCCTAAATCGGATGTCACAAGTCACGTGCAGCAGGACCTGGGCCGAGGAGAGAGCTGTAGGAAGGCCAGGCCCTGAACTCAAAGGCGGACTGGGGTGGACCCCACCAGCAACAGCCCCTTGGCCCGACGCTCCACATCAGCTCCTCAGGGCGCTAGAGTGCGGGAGGTGGGGGATGTGGCCCTCCTTCACAGGTGAGGAAAATTAAGGCCTCTCAGGGGACATATCATGTTGCCCCAAAGCAGGGAGCGGCCAGAAAAACTCATGGCAAAAACTAGGAGCCAGCTCCACGTGACATGGGAGTGAGCACGGACCTTCCAAACCCCCACTTGAGGGCGGCAACACTGGGGATGGGCCTCATTTCCATTCTACAGAACGTGGACGCGTCAGAGAAGAGAAACAGCAGGCCTGGAGCGGGGACCTGCAGGCTTTACCCTGCAGCGTGGGGTCCGTCCCCTCCACAAGCGAACACGCGGAGCCGCTCCCGCAGGCCCTCAAAGGCGCGGAGCCAGGGCCCCCTGCCTGGAGGGCTGCACTCGCGTCCGGCAGGCGCCTCAGAAGGGCGGTCACCAGGCCCCCATGGGCAGCCTGCCGTCCTGAGCCCCCCTCCCCATGCCATCCCTTCACTCGGGGTTTCCCAGGTCTCATGCAGCTCCTAGCTATGAGGCCGCCCCATTTTACCAAGAGCAAAACTCCGGCTGTGGGACTCTTTCCAGGATGGGGTCTGCCTCAGGCACAGGCAGCAGCGTGATGTACCGACCGCGTCCGCGGCCTCGAGGCTTCCTGCTCCGCTCCAGTGCAGTCAGGCGTGCAGGCACCACGCACCTGAGCTCGGTCAACACCCCTGGGGTCCTGTCCCTCCCGAGATGTGACAGAAATGGCCCCACACACGAGCGGCCTGATGCTCGGAGGCCCTGTGGCCCCTGGGTGACTCAGTGAGCGGCAGGGATAGGGCTGGATCCACAGCCCCGCCCCAAGCTTCCTGCCACCGTGGGAACCACAAGCTCCACGTTTCCCTGTCAGGTAAGCCTTTCGGAGGCAGGCCTGAAATCCCAGCCTCACTGTGTCGCCTGACTAGTGAAACGAGCCCCGCGGCAGGCACGCGCACCCCCCCTCAACCTCTGGGCGGGCACGCGCACCCCCCCCCCCCCCCCGCTCAACCTCTGGGCGGGCACGCGCACCCCTGCTCAACCTCTGGACTCGGGCTCCATCTCCTCCTCATCTCCCTGTGGGGTGGGCACTTGTAATACCTCCATGTTACAGAAAGGAAACTGAGGCACAGAGAGGGCCATGCCTCGCCCAAGGTTAGCCAGCCAATAGATGGGAGGGCTGAGATTTGACCCATGAGCATGCCTCCAAGCCCATTTCATTCATTCAGCAAGGCTCGGGCAGGACAGGCTGGTGCCCGCGCTGGGGATGCCTGAACACCAGATGGACTGGCCTCAGCCCATGGCGGGCAGCAGGCTGGGCACGGGCATCAACATGGCAATGCCAACCTCAGAGGGCATTACGGAGGATGGGCAGGGGCTGGCCTACCCCGTGGCTGCCTGTGAGATCAAGAAGGTAGGTCACAGTCAGGGACCAGGGGCCTGCAATACCCACTCTCAGAGGGCAAGCCCTAGAGACTTCTGAGCTGCCAGAGGGGTGGGCCTTCCCCACAGGGTTTAAACCCTTGTGAGCTTTTAAATGCGGAAACCCACAGAAGGCGCCCATCCAGCGTCTGGTGGGCAGTGGTGAGCCATG
Task1_train_28456
A variant on Chromosome 21 in gene CFAP410 (cilia and flagella associated protein 410) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Retinal dystrophy with or without macular staphyloma
GCACACGGGGGCAAGAGAAGGGAGGCAACTCCTGGGAGGTCAGGGGCTACAGATGGCAGCTCCTGGAGAGCCCGGCACTTACTTCACCTGTGGGGCGCCCTCCCGGCACCCTGGGGCTCCCCAGCTGTAACACCTTCCACCCAGGGCTTCAGGGGCAGGGTGGGGGGCACCCGAACACACAAATGCCGGGGGAGAGCTCCTGACCATGGGGTCAGGCCCTGTGCCGGATGGCAGATGCCTAACAGAGATCACATCCCGATGCCCCCACCACAGGCACCAGCAGCGGGTGTGATCTGCCAAGCAGGAGAGAAGTGCCCAGCTTCTGTCAAATGCGTTCGTGACCCGCTGCCAACTGCCCTGGGAGGCGCCGGCGTCTCACTGCAGAGTCAGCCCTGTGGCCCCTCCACGGCCCCCAGGCCCAAGGCCATACGGGCACTGATGGCCGTGCCCACAAACCATTCCAGTCACTGTGGCCCTAGGCCACCCCCCCCACCAGGGGCTCCCTGCACCTCACGAGCTCTGGTGCTGTGAGCCTTCTCTGTGCCAGGGCACGGGGCCTGGCTCACCCCCTCTCCTGCTCCCTGGCACATCCGCTGTTGGGCAAAACATGGACCTGCCACTGAAATCACTACCTGGGCACTGAGTCACTCCCAGAGAATATGGATGAGAACAGACACTCCCCCCGGATAATCCCTGTCCCTCACTTCCCAGAGACGCAGCTCACGGGAAGCCCCATTCACTCCCCGTGGGAGGACCCTGGGGGACAGGGATGGGCTGCGGAGTCCCCGCTGCCCTCCAGCCTCACGTTGCCTCCTCCTCGCTGTCCAGCGGGTCCCGGCCAGTCTCAGCAGCGGAGCTGAGGGAGCTCAGTGTGCAGCATAGCTTGGGGCCGCCGTGGCCTGTGCCCTCTCTCTCTGGGGCCGCAGTGATCTCCTCTCCCTCACTCAGTGCACGGGACAGCTCCTCCTCCGTCACAGCTTTGGGATGAAAGACAGAAGACAGCATGAGTGGCCTCACCCACGTGCAGGCCACATGCACTGCAGCTCCCGTCCTCACTGTGGCTTCAGGCACAGTCTGCTTGTGAAATGCATGCACGTGTATCCACCTCCAGGGACAACTCCCAGAGTAGCAGCCGGTTCCTCACTGTCCCATCCCCAGCCTGGCACAGGCTGACACACAACAGATGGTGGAGGGCTGCTCAGGAATCTCAACACCAGCCTTGGCCAGAAGCAAATACTCCTCAAAACCTCAACTAAGACACAATAGAAAAAGGAACAGACCATATTGAATTTATTCCATTTCTCTCATATATCAATTTCCCTGAAGTTTATATTATTAATATCAATAAAATTGTCTGGGAGAAAATAGTGGTGTCTGTATACCTGACAAGGATGAGACACTAGTGTGCTGAGAATGCCAAGGATGAACAAACAGCATGAAACCACAGCCTGGAAAACTGTGTCGGTGCTGGCGCTGGCTAGAGGAGGCACGAGTGCCTCCAATAGGTGGAGCGCAGCAGCAGGCACTGCGGTGCTGGGACGGCCCCTCCCCACGGCAGGGGCGCGATGGCACCGCCACCCTAGGTTCACAGTGGCCCGTGGAGCCTGCCCAGTCCCTGTGGACCAGTGCGATGCTGCTTGCCAGATACTGACGCCCCCGCTCGCCATGGCGCATGGCGATGGTCAGAGCAGGGCTGCTACTCACAGAAGCAAAAGAAGGAACCCTTTTGCTTTGCTACCAGGTCCTGCGGTCGTTGGGGGATACCCAAACTGTCAGTCCCAGGAGGGACCCTACGCTGCGCTGCTGCATTCGGGTGGCGGGATCAAGAGGAGACACAGAAGCCAGGGGAACAGCCTCTGGAGGAGACTTCACAGGACACATCTATGTCCCGCCAGACCAGGTATTTGCAGAAAAGGAGAAGAGAAAAGAGGGCTGGGGACATCCCCTTCCAGGGATTGTTTTGGGAGGGCCGGTGACTCCGCTGCGGCCACCTACCCTGGTTGTCCAGCTTCTGTAGGCGCGGCAGGGTGCGCAGCACGGTCATGCGGTAGCGGTGGGGGCTGGTGCCGCAGCACGGGTTCTCGGCCAGCCACAGCACCCGCAGACGCGGCAGCCCCTTCAGGTAGAAGAGCTCAGCCAGGCTGGGGATGCGGTTCCTCCGCAGGTACAGCTCACTCAGGCGCTGGCACCGGCTCACAGGCTCCAGGGTGGAGATGCTGTTGACACTGCACGGAGACCAGCACAGTCAGCGAGGGACGTGGCCAGGGCCCCCAGGGCCACCTCTCAATCCCCACCCCCAGTAAAAGGCACTCATGGGACCTGTGTCCCTGCCCTCTCCTGAGAAGCCTAAATCGGATGTCACAAGTCACGTGCAGCAGGACCTGGGCCGAGGAGAGAGCTGTAGGAAGGCCAGGCCCTGAACTCAAAGGCGGACTGGGGTGGACCCCACCAGCAACAGCCCCTTGGCCCGACGCTCCACATCAGCTCCTCAGGGCGCTAGAGTGCGGGAGGTGGGGGATGTGGCCCTCCTTCACAGGTGAGGAAAATTAAGGCCTCTCAGGGGACATATCATGTTGCCCCAAAGCAGGGAGCGGCCAGAAAAACTCATGGCAAAAACTAGGAGCCAGCTCCACGTGACATGGGAGTGAGCACGGACCTTCCAAACCCCCACTTGAGGGCGGCAACACTGGGGATGGGCCTCATTTCCATTCTACAGAACGTGGACGCGTCAGAGAAGAGAAACAGCAGGCCTGGAGCGGGGACCTGCAGGCTTTACCCTGCAGCGTGGGGTCCGTCCCCTCCACAAGCGAACACGCGGAGCCGCTCCCGCAGGCCCTCAAAGGCGCGGAGCCAGGGCCCCCTGCCTGGAGGGCTGCACTCGCGTCCGGCAGGCGCCTCAGAAGGGCGGTCACCAGGCCCCCATGGGCAGCCTGCCGTCCTGAGCCCCCCTCCCCATGCCATCCCTTCACTCGGGGTTTCCCAGGTCTCATGCAGCTCCTAGCTATGAGGCCGCCCCATTTTACCAAGAGCAAAACTCCGGCTGTGGGACTCTTTCCAGGATGGGGTCTGCCTCAGGCACAGGCAGCAGCGTGATGTACCGACCGCGTCCGCGGCCTCGAGGCTTCCTGCTCCGCTCCAGTGCAGTCAGGCGTGCAGGCACCACGCACCTGAGCTCGGTCAACACCCCTGGGGTCCTGTCCCTCCCGAGATGTGACAGAAATGGCCCCACACACGAGCGGCCTGATGCTCGGAGGCCCTGTGGCCCCTGGGTGACTCAGTGAGCGGCAGGGATAGGGCTGGATCCACAGCCCCGCCCCAAGCTTCCTGCCACCGTGGGAACCACAAGCTCCACGTTTCCCTGTCAGGTAAGCCTTTCGGAGGCAGGCCTGAAATCCCAGCCTCACTGTGTCGCCTGACTAGTGAAACGAGCCCCGCGGCAGGCACGCGCACCCCCCCTCAACCTCTGGGCGGGCACGCGCACCCCCCCCCCCCCCCCGCTCAACCTCTGGGCGGGCACGCGCACCCCTGCTCAACCTCTGGACTCGGGCTCCATCTCCTCCTCATCTCCCTGTGGGGTGGGCACTTGTAATACCTCCATGTTACAGAAAGGAAACTGAGGCACAGAGAGGGCCATGCCTCGCCCAAGGTTAGCCAGCCAATAGATGGGAGGGCTGAGATTTGACCCATGAGCATGCCTCCAAGCCCATTTCATTCATTCAGCAAGGCTCGGGCAGGACAGGCTGGTGCCCGCGCTGGGGATGCCTGAACACCAGATGGACTGGCCTCAGCCCATGGCGGGCAGCAGGCTGGGCACGGGCATCAACATGGCAATGCCAACCTCAGAGGGCATTACGGAGGATGGGCAGGGGCTGGCCTACCCCGTGGCTGCCTGTGAGATCAAGAAGGTAGGTCACAGTCAGGGACCAGGGGCCTGCAATACCCACTCTCAGAGGGCAAGCCCTAGAGACTTCTGAGCTGCCAGAGGGGTGGGCCTTCCCCACAGGGTTTAAACCCTTGTGAGCTTTTAAATGCGGAAACCCACAGAAGGCGCCCATCCAGCGTCTGGTGGGCAGTGGTGAGCCATGAGCGTCTGCTC
GCACACGGGGGCAAGAGAAGGGAGGCAACTCCTGGGAGGTCAGGGGCTACAGATGGCAGCTCCTGGAGAGCCCGGCACTTACTTCACCTGTGGGGCGCCCTCCCGGCACCCTGGGGCTCCCCAGCTGTAACACCTTCCACCCAGGGCTTCAGGGGCAGGGTGGGGGGCACCCGAACACACAAATGCCGGGGGAGAGCTCCTGACCATGGGGTCAGGCCCTGTGCCGGATGGCAGATGCCTAACAGAGATCACATCCCGATGCCCCCACCACAGGCACCAGCAGCGGGTGTGATCTGCCAAGCAGGAGAGAAGTGCCCAGCTTCTGTCAAATGCGTTCGTGACCCGCTGCCAACTGCCCTGGGAGGCGCCGGCGTCTCACTGCAGAGTCAGCCCTGTGGCCCCTCCACGGCCCCCAGGCCCAAGGCCATACGGGCACTGATGGCCGTGCCCACAAACCATTCCAGTCACTGTGGCCCTAGGCCACCCCCCCCACCAGGGGCTCCCTGCACCTCACGAGCTCTGGTGCTGTGAGCCTTCTCTGTGCCAGGGCACGGGGCCTGGCTCACCCCCTCTCCTGCTCCCTGGCACATCCGCTGTTGGGCAAAACATGGACCTGCCACTGAAATCACTACCTGGGCACTGAGTCACTCCCAGAGAATATGGATGAGAACAGACACTCCCCCCGGATAATCCCTGTCCCTCACTTCCCAGAGACGCAGCTCACGGGAAGCCCCATTCACTCCCCGTGGGAGGACCCTGGGGGACAGGGATGGGCTGCGGAGTCCCCGCTGCCCTCCAGCCTCACGTTGCCTCCTCCTCGCTGTCCAGCGGGTCCCGGCCAGTCTCAGCAGCGGAGCTGAGGGAGCTCAGTGTGCAGCATAGCTTGGGGCCGCCGTGGCCTGTGCCCTCTCTCTCTGGGGCCGCAGTGATCTCCTCTCCCTCACTCAGTGCACGGGACAGCTCCTCCTCCGTCACAGCTTTGGGATGAAAGACAGAAGACAGCATGAGTGGCCTCACCCACGTGCAGGCCACATGCACTGCAGCTCCCGTCCTCACTGTGGCTTCAGGCACAGTCTGCTTGTGAAATGCATGCACGTGTATCCACCTCCAGGGACAACTCCCAGAGTAGCAGCCGGTTCCTCACTGTCCCATCCCCAGCCTGGCACAGGCTGACACACAACAGATGGTGGAGGGCTGCTCAGGAATCTCAACACCAGCCTTGGCCAGAAGCAAATACTCCTCAAAACCTCAACTAAGACACAATAGAAAAAGGAACAGACCATATTGAATTTATTCCATTTCTCTCATATATCAATTTCCCTGAAGTTTATATTATTAATATCAATAAAATTGTCTGGGAGAAAATAGTGGTGTCTGTATACCTGACAAGGATGAGACACTAGTGTGCTGAGAATGCCAAGGATGAACAAACAGCATGAAACCACAGCCTGGAAAACTGTGTCGGTGCTGGCGCTGGCTAGAGGAGGCACGAGTGCCTCCAATAGGTGGAGCGCAGCAGCAGGCACTGCGGTGCTGGGACGGCCCCTCCCCACGGCAGGGGCGCGATGGCACCGCCACCCTAGGTTCACAGTGGCCCGTGGAGCCTGCCCAGTCCCTGTGGACCAGTGCGATGCTGCTTGCCAGATACTGACGCCCCCGCTCGCCATGGCGCATGGCGATGGTCAGAGCAGGGCTGCTACTCACAGAAGCAAAAGAAGGAACCCTTTTGCTTTGCTACCAGGTCCTGCGGTCGTTGGGGGATACCCAAACTGTCAGTCCCAGGAGGGACCCTACGCTGCGCTGCTGCATTCGGGTGGCGGGATCAAGAGGAGACACAGAAGCCAGGGGAACAGCCTCTGGAGGAGACTTCACAGGACACATCTATGTCCCGCCAGACCAGGTATTTGCAGAAAAGGAGAAGAGAAAAGAGGGCTGGGGACATCCCCTTCCAGGGATTGTTTTGGGAGGGCCGGTGACTCCGCTGCGGCCACCTACCCTGGTTGTCCAGCTTCTGTAGGCGCGGCAGGGTGCGCAGCACGGTCATGCGGCAGCGGTGGGGGCTGGTGCCGCAGCACGGGTTCTCGGCCAGCCACAGCACCCGCAGACGCGGCAGCCCCTTCAGGTAGAAGAGCTCAGCCAGGCTGGGGATGCGGTTCCTCCGCAGGTACAGCTCACTCAGGCGCTGGCACCGGCTCACAGGCTCCAGGGTGGAGATGCTGTTGACACTGCACGGAGACCAGCACAGTCAGCGAGGGACGTGGCCAGGGCCCCCAGGGCCACCTCTCAATCCCCACCCCCAGTAAAAGGCACTCATGGGACCTGTGTCCCTGCCCTCTCCTGAGAAGCCTAAATCGGATGTCACAAGTCACGTGCAGCAGGACCTGGGCCGAGGAGAGAGCTGTAGGAAGGCCAGGCCCTGAACTCAAAGGCGGACTGGGGTGGACCCCACCAGCAACAGCCCCTTGGCCCGACGCTCCACATCAGCTCCTCAGGGCGCTAGAGTGCGGGAGGTGGGGGATGTGGCCCTCCTTCACAGGTGAGGAAAATTAAGGCCTCTCAGGGGACATATCATGTTGCCCCAAAGCAGGGAGCGGCCAGAAAAACTCATGGCAAAAACTAGGAGCCAGCTCCACGTGACATGGGAGTGAGCACGGACCTTCCAAACCCCCACTTGAGGGCGGCAACACTGGGGATGGGCCTCATTTCCATTCTACAGAACGTGGACGCGTCAGAGAAGAGAAACAGCAGGCCTGGAGCGGGGACCTGCAGGCTTTACCCTGCAGCGTGGGGTCCGTCCCCTCCACAAGCGAACACGCGGAGCCGCTCCCGCAGGCCCTCAAAGGCGCGGAGCCAGGGCCCCCTGCCTGGAGGGCTGCACTCGCGTCCGGCAGGCGCCTCAGAAGGGCGGTCACCAGGCCCCCATGGGCAGCCTGCCGTCCTGAGCCCCCCTCCCCATGCCATCCCTTCACTCGGGGTTTCCCAGGTCTCATGCAGCTCCTAGCTATGAGGCCGCCCCATTTTACCAAGAGCAAAACTCCGGCTGTGGGACTCTTTCCAGGATGGGGTCTGCCTCAGGCACAGGCAGCAGCGTGATGTACCGACCGCGTCCGCGGCCTCGAGGCTTCCTGCTCCGCTCCAGTGCAGTCAGGCGTGCAGGCACCACGCACCTGAGCTCGGTCAACACCCCTGGGGTCCTGTCCCTCCCGAGATGTGACAGAAATGGCCCCACACACGAGCGGCCTGATGCTCGGAGGCCCTGTGGCCCCTGGGTGACTCAGTGAGCGGCAGGGATAGGGCTGGATCCACAGCCCCGCCCCAAGCTTCCTGCCACCGTGGGAACCACAAGCTCCACGTTTCCCTGTCAGGTAAGCCTTTCGGAGGCAGGCCTGAAATCCCAGCCTCACTGTGTCGCCTGACTAGTGAAACGAGCCCCGCGGCAGGCACGCGCACCCCCCCTCAACCTCTGGGCGGGCACGCGCACCCCCCCCCCCCCCCCGCTCAACCTCTGGGCGGGCACGCGCACCCCTGCTCAACCTCTGGACTCGGGCTCCATCTCCTCCTCATCTCCCTGTGGGGTGGGCACTTGTAATACCTCCATGTTACAGAAAGGAAACTGAGGCACAGAGAGGGCCATGCCTCGCCCAAGGTTAGCCAGCCAATAGATGGGAGGGCTGAGATTTGACCCATGAGCATGCCTCCAAGCCCATTTCATTCATTCAGCAAGGCTCGGGCAGGACAGGCTGGTGCCCGCGCTGGGGATGCCTGAACACCAGATGGACTGGCCTCAGCCCATGGCGGGCAGCAGGCTGGGCACGGGCATCAACATGGCAATGCCAACCTCAGAGGGCATTACGGAGGATGGGCAGGGGCTGGCCTACCCCGTGGCTGCCTGTGAGATCAAGAAGGTAGGTCACAGTCAGGGACCAGGGGCCTGCAATACCCACTCTCAGAGGGCAAGCCCTAGAGACTTCTGAGCTGCCAGAGGGGTGGGCCTTCCCCACAGGGTTTAAACCCTTGTGAGCTTTTAAATGCGGAAACCCACAGAAGGCGCCCATCCAGCGTCTGGTGGGCAGTGGTGAGCCATGAGCGTCTGCTC
Task1_train_28457
Gene CFAP410 (cilia and flagella associated protein 410) on Chromosome 21 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Axial spondylometaphyseal dysplasia
CACACGGGGGCAAGAGAAGGGAGGCAACTCCTGGGAGGTCAGGGGCTACAGATGGCAGCTCCTGGAGAGCCCGGCACTTACTTCACCTGTGGGGCGCCCTCCCGGCACCCTGGGGCTCCCCAGCTGTAACACCTTCCACCCAGGGCTTCAGGGGCAGGGTGGGGGGCACCCGAACACACAAATGCCGGGGGAGAGCTCCTGACCATGGGGTCAGGCCCTGTGCCGGATGGCAGATGCCTAACAGAGATCACATCCCGATGCCCCCACCACAGGCACCAGCAGCGGGTGTGATCTGCCAAGCAGGAGAGAAGTGCCCAGCTTCTGTCAAATGCGTTCGTGACCCGCTGCCAACTGCCCTGGGAGGCGCCGGCGTCTCACTGCAGAGTCAGCCCTGTGGCCCCTCCACGGCCCCCAGGCCCAAGGCCATACGGGCACTGATGGCCGTGCCCACAAACCATTCCAGTCACTGTGGCCCTAGGCCACCCCCCCCACCAGGGGCTCCCTGCACCTCACGAGCTCTGGTGCTGTGAGCCTTCTCTGTGCCAGGGCACGGGGCCTGGCTCACCCCCTCTCCTGCTCCCTGGCACATCCGCTGTTGGGCAAAACATGGACCTGCCACTGAAATCACTACCTGGGCACTGAGTCACTCCCAGAGAATATGGATGAGAACAGACACTCCCCCCGGATAATCCCTGTCCCTCACTTCCCAGAGACGCAGCTCACGGGAAGCCCCATTCACTCCCCGTGGGAGGACCCTGGGGGACAGGGATGGGCTGCGGAGTCCCCGCTGCCCTCCAGCCTCACGTTGCCTCCTCCTCGCTGTCCAGCGGGTCCCGGCCAGTCTCAGCAGCGGAGCTGAGGGAGCTCAGTGTGCAGCATAGCTTGGGGCCGCCGTGGCCTGTGCCCTCTCTCTCTGGGGCCGCAGTGATCTCCTCTCCCTCACTCAGTGCACGGGACAGCTCCTCCTCCGTCACAGCTTTGGGATGAAAGACAGAAGACAGCATGAGTGGCCTCACCCACGTGCAGGCCACATGCACTGCAGCTCCCGTCCTCACTGTGGCTTCAGGCACAGTCTGCTTGTGAAATGCATGCACGTGTATCCACCTCCAGGGACAACTCCCAGAGTAGCAGCCGGTTCCTCACTGTCCCATCCCCAGCCTGGCACAGGCTGACACACAACAGATGGTGGAGGGCTGCTCAGGAATCTCAACACCAGCCTTGGCCAGAAGCAAATACTCCTCAAAACCTCAACTAAGACACAATAGAAAAAGGAACAGACCATATTGAATTTATTCCATTTCTCTCATATATCAATTTCCCTGAAGTTTATATTATTAATATCAATAAAATTGTCTGGGAGAAAATAGTGGTGTCTGTATACCTGACAAGGATGAGACACTAGTGTGCTGAGAATGCCAAGGATGAACAAACAGCATGAAACCACAGCCTGGAAAACTGTGTCGGTGCTGGCGCTGGCTAGAGGAGGCACGAGTGCCTCCAATAGGTGGAGCGCAGCAGCAGGCACTGCGGTGCTGGGACGGCCCCTCCCCACGGCAGGGGCGCGATGGCACCGCCACCCTAGGTTCACAGTGGCCCGTGGAGCCTGCCCAGTCCCTGTGGACCAGTGCGATGCTGCTTGCCAGATACTGACGCCCCCGCTCGCCATGGCGCATGGCGATGGTCAGAGCAGGGCTGCTACTCACAGAAGCAAAAGAAGGAACCCTTTTGCTTTGCTACCAGGTCCTGCGGTCGTTGGGGGATACCCAAACTGTCAGTCCCAGGAGGGACCCTACGCTGCGCTGCTGCATTCGGGTGGCGGGATCAAGAGGAGACACAGAAGCCAGGGGAACAGCCTCTGGAGGAGACTTCACAGGACACATCTATGTCCCGCCAGACCAGGTATTTGCAGAAAAGGAGAAGAGAAAAGAGGGCTGGGGACATCCCCTTCCAGGGATTGTTTTGGGAGGGCCGGTGACTCCGCTGCGGCCACCTACCCTGGTTGTCCAGCTTCTGTAGGCGCGGCAGGGTGCGCAGCACGGTCATGCGGTAGCGGTGGGGGCTGGTGCCGCAGCACGGGTTCTCGGCCAGCCACAGCACCCGCAGACGCGGCAGCCCCTTCAGGTAGAAGAGCTCAGCCAGGCTGGGGATGCGGTTCCTCCGCAGGTACAGCTCACTCAGGCGCTGGCACCGGCTCACAGGCTCCAGGGTGGAGATGCTGTTGACACTGCACGGAGACCAGCACAGTCAGCGAGGGACGTGGCCAGGGCCCCCAGGGCCACCTCTCAATCCCCACCCCCAGTAAAAGGCACTCATGGGACCTGTGTCCCTGCCCTCTCCTGAGAAGCCTAAATCGGATGTCACAAGTCACGTGCAGCAGGACCTGGGCCGAGGAGAGAGCTGTAGGAAGGCCAGGCCCTGAACTCAAAGGCGGACTGGGGTGGACCCCACCAGCAACAGCCCCTTGGCCCGACGCTCCACATCAGCTCCTCAGGGCGCTAGAGTGCGGGAGGTGGGGGATGTGGCCCTCCTTCACAGGTGAGGAAAATTAAGGCCTCTCAGGGGACATATCATGTTGCCCCAAAGCAGGGAGCGGCCAGAAAAACTCATGGCAAAAACTAGGAGCCAGCTCCACGTGACATGGGAGTGAGCACGGACCTTCCAAACCCCCACTTGAGGGCGGCAACACTGGGGATGGGCCTCATTTCCATTCTACAGAACGTGGACGCGTCAGAGAAGAGAAACAGCAGGCCTGGAGCGGGGACCTGCAGGCTTTACCCTGCAGCGTGGGGTCCGTCCCCTCCACAAGCGAACACGCGGAGCCGCTCCCGCAGGCCCTCAAAGGCGCGGAGCCAGGGCCCCCTGCCTGGAGGGCTGCACTCGCGTCCGGCAGGCGCCTCAGAAGGGCGGTCACCAGGCCCCCATGGGCAGCCTGCCGTCCTGAGCCCCCCTCCCCATGCCATCCCTTCACTCGGGGTTTCCCAGGTCTCATGCAGCTCCTAGCTATGAGGCCGCCCCATTTTACCAAGAGCAAAACTCCGGCTGTGGGACTCTTTCCAGGATGGGGTCTGCCTCAGGCACAGGCAGCAGCGTGATGTACCGACCGCGTCCGCGGCCTCGAGGCTTCCTGCTCCGCTCCAGTGCAGTCAGGCGTGCAGGCACCACGCACCTGAGCTCGGTCAACACCCCTGGGGTCCTGTCCCTCCCGAGATGTGACAGAAATGGCCCCACACACGAGCGGCCTGATGCTCGGAGGCCCTGTGGCCCCTGGGTGACTCAGTGAGCGGCAGGGATAGGGCTGGATCCACAGCCCCGCCCCAAGCTTCCTGCCACCGTGGGAACCACAAGCTCCACGTTTCCCTGTCAGGTAAGCCTTTCGGAGGCAGGCCTGAAATCCCAGCCTCACTGTGTCGCCTGACTAGTGAAACGAGCCCCGCGGCAGGCACGCGCACCCCCCCTCAACCTCTGGGCGGGCACGCGCACCCCCCCCCCCCCCCCGCTCAACCTCTGGGCGGGCACGCGCACCCCTGCTCAACCTCTGGACTCGGGCTCCATCTCCTCCTCATCTCCCTGTGGGGTGGGCACTTGTAATACCTCCATGTTACAGAAAGGAAACTGAGGCACAGAGAGGGCCATGCCTCGCCCAAGGTTAGCCAGCCAATAGATGGGAGGGCTGAGATTTGACCCATGAGCATGCCTCCAAGCCCATTTCATTCATTCAGCAAGGCTCGGGCAGGACAGGCTGGTGCCCGCGCTGGGGATGCCTGAACACCAGATGGACTGGCCTCAGCCCATGGCGGGCAGCAGGCTGGGCACGGGCATCAACATGGCAATGCCAACCTCAGAGGGCATTACGGAGGATGGGCAGGGGCTGGCCTACCCCGTGGCTGCCTGTGAGATCAAGAAGGTAGGTCACAGTCAGGGACCAGGGGCCTGCAATACCCACTCTCAGAGGGCAAGCCCTAGAGACTTCTGAGCTGCCAGAGGGGTGGGCCTTCCCCACAGGGTTTAAACCCTTGTGAGCTTTTAAATGCGGAAACCCACAGAAGGCGCCCATCCAGCGTCTGGTGGGCAGTGGTGAGCCATGAGCGTCTGCTCC
CACACGGGGGCAAGAGAAGGGAGGCAACTCCTGGGAGGTCAGGGGCTACAGATGGCAGCTCCTGGAGAGCCCGGCACTTACTTCACCTGTGGGGCGCCCTCCCGGCACCCTGGGGCTCCCCAGCTGTAACACCTTCCACCCAGGGCTTCAGGGGCAGGGTGGGGGGCACCCGAACACACAAATGCCGGGGGAGAGCTCCTGACCATGGGGTCAGGCCCTGTGCCGGATGGCAGATGCCTAACAGAGATCACATCCCGATGCCCCCACCACAGGCACCAGCAGCGGGTGTGATCTGCCAAGCAGGAGAGAAGTGCCCAGCTTCTGTCAAATGCGTTCGTGACCCGCTGCCAACTGCCCTGGGAGGCGCCGGCGTCTCACTGCAGAGTCAGCCCTGTGGCCCCTCCACGGCCCCCAGGCCCAAGGCCATACGGGCACTGATGGCCGTGCCCACAAACCATTCCAGTCACTGTGGCCCTAGGCCACCCCCCCCACCAGGGGCTCCCTGCACCTCACGAGCTCTGGTGCTGTGAGCCTTCTCTGTGCCAGGGCACGGGGCCTGGCTCACCCCCTCTCCTGCTCCCTGGCACATCCGCTGTTGGGCAAAACATGGACCTGCCACTGAAATCACTACCTGGGCACTGAGTCACTCCCAGAGAATATGGATGAGAACAGACACTCCCCCCGGATAATCCCTGTCCCTCACTTCCCAGAGACGCAGCTCACGGGAAGCCCCATTCACTCCCCGTGGGAGGACCCTGGGGGACAGGGATGGGCTGCGGAGTCCCCGCTGCCCTCCAGCCTCACGTTGCCTCCTCCTCGCTGTCCAGCGGGTCCCGGCCAGTCTCAGCAGCGGAGCTGAGGGAGCTCAGTGTGCAGCATAGCTTGGGGCCGCCGTGGCCTGTGCCCTCTCTCTCTGGGGCCGCAGTGATCTCCTCTCCCTCACTCAGTGCACGGGACAGCTCCTCCTCCGTCACAGCTTTGGGATGAAAGACAGAAGACAGCATGAGTGGCCTCACCCACGTGCAGGCCACATGCACTGCAGCTCCCGTCCTCACTGTGGCTTCAGGCACAGTCTGCTTGTGAAATGCATGCACGTGTATCCACCTCCAGGGACAACTCCCAGAGTAGCAGCCGGTTCCTCACTGTCCCATCCCCAGCCTGGCACAGGCTGACACACAACAGATGGTGGAGGGCTGCTCAGGAATCTCAACACCAGCCTTGGCCAGAAGCAAATACTCCTCAAAACCTCAACTAAGACACAATAGAAAAAGGAACAGACCATATTGAATTTATTCCATTTCTCTCATATATCAATTTCCCTGAAGTTTATATTATTAATATCAATAAAATTGTCTGGGAGAAAATAGTGGTGTCTGTATACCTGACAAGGATGAGACACTAGTGTGCTGAGAATGCCAAGGATGAACAAACAGCATGAAACCACAGCCTGGAAAACTGTGTCGGTGCTGGCGCTGGCTAGAGGAGGCACGAGTGCCTCCAATAGGTGGAGCGCAGCAGCAGGCACTGCGGTGCTGGGACGGCCCCTCCCCACGGCAGGGGCGCGATGGCACCGCCACCCTAGGTTCACAGTGGCCCGTGGAGCCTGCCCAGTCCCTGTGGACCAGTGCGATGCTGCTTGCCAGATACTGACGCCCCCGCTCGCCATGGCGCATGGCGATGGTCAGAGCAGGGCTGCTACTCACAGAAGCAAAAGAAGGAACCCTTTTGCTTTGCTACCAGGTCCTGCGGTCGTTGGGGGATACCCAAACTGTCAGTCCCAGGAGGGACCCTACGCTGCGCTGCTGCATTCGGGTGGCGGGATCAAGAGGAGACACAGAAGCCAGGGGAACAGCCTCTGGAGGAGACTTCACAGGACACATCTATGTCCCGCCAGACCAGGTATTTGCAGAAAAGGAGAAGAGAAAAGAGGGCTGGGGACATCCCCTTCCAGGGATTGTTTTGGGAGGGCCGGTGACTCCGCTGCGGCCACCTACCCTGGTTGTCCAGCTTCTGTAGGCGCGGCAGGGTGCGCAGCACGGTCATGCGGTGGCGGTGGGGGCTGGTGCCGCAGCACGGGTTCTCGGCCAGCCACAGCACCCGCAGACGCGGCAGCCCCTTCAGGTAGAAGAGCTCAGCCAGGCTGGGGATGCGGTTCCTCCGCAGGTACAGCTCACTCAGGCGCTGGCACCGGCTCACAGGCTCCAGGGTGGAGATGCTGTTGACACTGCACGGAGACCAGCACAGTCAGCGAGGGACGTGGCCAGGGCCCCCAGGGCCACCTCTCAATCCCCACCCCCAGTAAAAGGCACTCATGGGACCTGTGTCCCTGCCCTCTCCTGAGAAGCCTAAATCGGATGTCACAAGTCACGTGCAGCAGGACCTGGGCCGAGGAGAGAGCTGTAGGAAGGCCAGGCCCTGAACTCAAAGGCGGACTGGGGTGGACCCCACCAGCAACAGCCCCTTGGCCCGACGCTCCACATCAGCTCCTCAGGGCGCTAGAGTGCGGGAGGTGGGGGATGTGGCCCTCCTTCACAGGTGAGGAAAATTAAGGCCTCTCAGGGGACATATCATGTTGCCCCAAAGCAGGGAGCGGCCAGAAAAACTCATGGCAAAAACTAGGAGCCAGCTCCACGTGACATGGGAGTGAGCACGGACCTTCCAAACCCCCACTTGAGGGCGGCAACACTGGGGATGGGCCTCATTTCCATTCTACAGAACGTGGACGCGTCAGAGAAGAGAAACAGCAGGCCTGGAGCGGGGACCTGCAGGCTTTACCCTGCAGCGTGGGGTCCGTCCCCTCCACAAGCGAACACGCGGAGCCGCTCCCGCAGGCCCTCAAAGGCGCGGAGCCAGGGCCCCCTGCCTGGAGGGCTGCACTCGCGTCCGGCAGGCGCCTCAGAAGGGCGGTCACCAGGCCCCCATGGGCAGCCTGCCGTCCTGAGCCCCCCTCCCCATGCCATCCCTTCACTCGGGGTTTCCCAGGTCTCATGCAGCTCCTAGCTATGAGGCCGCCCCATTTTACCAAGAGCAAAACTCCGGCTGTGGGACTCTTTCCAGGATGGGGTCTGCCTCAGGCACAGGCAGCAGCGTGATGTACCGACCGCGTCCGCGGCCTCGAGGCTTCCTGCTCCGCTCCAGTGCAGTCAGGCGTGCAGGCACCACGCACCTGAGCTCGGTCAACACCCCTGGGGTCCTGTCCCTCCCGAGATGTGACAGAAATGGCCCCACACACGAGCGGCCTGATGCTCGGAGGCCCTGTGGCCCCTGGGTGACTCAGTGAGCGGCAGGGATAGGGCTGGATCCACAGCCCCGCCCCAAGCTTCCTGCCACCGTGGGAACCACAAGCTCCACGTTTCCCTGTCAGGTAAGCCTTTCGGAGGCAGGCCTGAAATCCCAGCCTCACTGTGTCGCCTGACTAGTGAAACGAGCCCCGCGGCAGGCACGCGCACCCCCCCTCAACCTCTGGGCGGGCACGCGCACCCCCCCCCCCCCCCCGCTCAACCTCTGGGCGGGCACGCGCACCCCTGCTCAACCTCTGGACTCGGGCTCCATCTCCTCCTCATCTCCCTGTGGGGTGGGCACTTGTAATACCTCCATGTTACAGAAAGGAAACTGAGGCACAGAGAGGGCCATGCCTCGCCCAAGGTTAGCCAGCCAATAGATGGGAGGGCTGAGATTTGACCCATGAGCATGCCTCCAAGCCCATTTCATTCATTCAGCAAGGCTCGGGCAGGACAGGCTGGTGCCCGCGCTGGGGATGCCTGAACACCAGATGGACTGGCCTCAGCCCATGGCGGGCAGCAGGCTGGGCACGGGCATCAACATGGCAATGCCAACCTCAGAGGGCATTACGGAGGATGGGCAGGGGCTGGCCTACCCCGTGGCTGCCTGTGAGATCAAGAAGGTAGGTCACAGTCAGGGACCAGGGGCCTGCAATACCCACTCTCAGAGGGCAAGCCCTAGAGACTTCTGAGCTGCCAGAGGGGTGGGCCTTCCCCACAGGGTTTAAACCCTTGTGAGCTTTTAAATGCGGAAACCCACAGAAGGCGCCCATCCAGCGTCTGGTGGGCAGTGGTGAGCCATGAGCGTCTGCTCC
Task1_train_28458
This sequence variant lies in CFAP410 (cilia and flagella associated protein 410) on Chromosome 21. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Retinal dystrophy with or without macular staphyloma
CACACGGGGGCAAGAGAAGGGAGGCAACTCCTGGGAGGTCAGGGGCTACAGATGGCAGCTCCTGGAGAGCCCGGCACTTACTTCACCTGTGGGGCGCCCTCCCGGCACCCTGGGGCTCCCCAGCTGTAACACCTTCCACCCAGGGCTTCAGGGGCAGGGTGGGGGGCACCCGAACACACAAATGCCGGGGGAGAGCTCCTGACCATGGGGTCAGGCCCTGTGCCGGATGGCAGATGCCTAACAGAGATCACATCCCGATGCCCCCACCACAGGCACCAGCAGCGGGTGTGATCTGCCAAGCAGGAGAGAAGTGCCCAGCTTCTGTCAAATGCGTTCGTGACCCGCTGCCAACTGCCCTGGGAGGCGCCGGCGTCTCACTGCAGAGTCAGCCCTGTGGCCCCTCCACGGCCCCCAGGCCCAAGGCCATACGGGCACTGATGGCCGTGCCCACAAACCATTCCAGTCACTGTGGCCCTAGGCCACCCCCCCCACCAGGGGCTCCCTGCACCTCACGAGCTCTGGTGCTGTGAGCCTTCTCTGTGCCAGGGCACGGGGCCTGGCTCACCCCCTCTCCTGCTCCCTGGCACATCCGCTGTTGGGCAAAACATGGACCTGCCACTGAAATCACTACCTGGGCACTGAGTCACTCCCAGAGAATATGGATGAGAACAGACACTCCCCCCGGATAATCCCTGTCCCTCACTTCCCAGAGACGCAGCTCACGGGAAGCCCCATTCACTCCCCGTGGGAGGACCCTGGGGGACAGGGATGGGCTGCGGAGTCCCCGCTGCCCTCCAGCCTCACGTTGCCTCCTCCTCGCTGTCCAGCGGGTCCCGGCCAGTCTCAGCAGCGGAGCTGAGGGAGCTCAGTGTGCAGCATAGCTTGGGGCCGCCGTGGCCTGTGCCCTCTCTCTCTGGGGCCGCAGTGATCTCCTCTCCCTCACTCAGTGCACGGGACAGCTCCTCCTCCGTCACAGCTTTGGGATGAAAGACAGAAGACAGCATGAGTGGCCTCACCCACGTGCAGGCCACATGCACTGCAGCTCCCGTCCTCACTGTGGCTTCAGGCACAGTCTGCTTGTGAAATGCATGCACGTGTATCCACCTCCAGGGACAACTCCCAGAGTAGCAGCCGGTTCCTCACTGTCCCATCCCCAGCCTGGCACAGGCTGACACACAACAGATGGTGGAGGGCTGCTCAGGAATCTCAACACCAGCCTTGGCCAGAAGCAAATACTCCTCAAAACCTCAACTAAGACACAATAGAAAAAGGAACAGACCATATTGAATTTATTCCATTTCTCTCATATATCAATTTCCCTGAAGTTTATATTATTAATATCAATAAAATTGTCTGGGAGAAAATAGTGGTGTCTGTATACCTGACAAGGATGAGACACTAGTGTGCTGAGAATGCCAAGGATGAACAAACAGCATGAAACCACAGCCTGGAAAACTGTGTCGGTGCTGGCGCTGGCTAGAGGAGGCACGAGTGCCTCCAATAGGTGGAGCGCAGCAGCAGGCACTGCGGTGCTGGGACGGCCCCTCCCCACGGCAGGGGCGCGATGGCACCGCCACCCTAGGTTCACAGTGGCCCGTGGAGCCTGCCCAGTCCCTGTGGACCAGTGCGATGCTGCTTGCCAGATACTGACGCCCCCGCTCGCCATGGCGCATGGCGATGGTCAGAGCAGGGCTGCTACTCACAGAAGCAAAAGAAGGAACCCTTTTGCTTTGCTACCAGGTCCTGCGGTCGTTGGGGGATACCCAAACTGTCAGTCCCAGGAGGGACCCTACGCTGCGCTGCTGCATTCGGGTGGCGGGATCAAGAGGAGACACAGAAGCCAGGGGAACAGCCTCTGGAGGAGACTTCACAGGACACATCTATGTCCCGCCAGACCAGGTATTTGCAGAAAAGGAGAAGAGAAAAGAGGGCTGGGGACATCCCCTTCCAGGGATTGTTTTGGGAGGGCCGGTGACTCCGCTGCGGCCACCTACCCTGGTTGTCCAGCTTCTGTAGGCGCGGCAGGGTGCGCAGCACGGTCATGCGGTAGCGGTGGGGGCTGGTGCCGCAGCACGGGTTCTCGGCCAGCCACAGCACCCGCAGACGCGGCAGCCCCTTCAGGTAGAAGAGCTCAGCCAGGCTGGGGATGCGGTTCCTCCGCAGGTACAGCTCACTCAGGCGCTGGCACCGGCTCACAGGCTCCAGGGTGGAGATGCTGTTGACACTGCACGGAGACCAGCACAGTCAGCGAGGGACGTGGCCAGGGCCCCCAGGGCCACCTCTCAATCCCCACCCCCAGTAAAAGGCACTCATGGGACCTGTGTCCCTGCCCTCTCCTGAGAAGCCTAAATCGGATGTCACAAGTCACGTGCAGCAGGACCTGGGCCGAGGAGAGAGCTGTAGGAAGGCCAGGCCCTGAACTCAAAGGCGGACTGGGGTGGACCCCACCAGCAACAGCCCCTTGGCCCGACGCTCCACATCAGCTCCTCAGGGCGCTAGAGTGCGGGAGGTGGGGGATGTGGCCCTCCTTCACAGGTGAGGAAAATTAAGGCCTCTCAGGGGACATATCATGTTGCCCCAAAGCAGGGAGCGGCCAGAAAAACTCATGGCAAAAACTAGGAGCCAGCTCCACGTGACATGGGAGTGAGCACGGACCTTCCAAACCCCCACTTGAGGGCGGCAACACTGGGGATGGGCCTCATTTCCATTCTACAGAACGTGGACGCGTCAGAGAAGAGAAACAGCAGGCCTGGAGCGGGGACCTGCAGGCTTTACCCTGCAGCGTGGGGTCCGTCCCCTCCACAAGCGAACACGCGGAGCCGCTCCCGCAGGCCCTCAAAGGCGCGGAGCCAGGGCCCCCTGCCTGGAGGGCTGCACTCGCGTCCGGCAGGCGCCTCAGAAGGGCGGTCACCAGGCCCCCATGGGCAGCCTGCCGTCCTGAGCCCCCCTCCCCATGCCATCCCTTCACTCGGGGTTTCCCAGGTCTCATGCAGCTCCTAGCTATGAGGCCGCCCCATTTTACCAAGAGCAAAACTCCGGCTGTGGGACTCTTTCCAGGATGGGGTCTGCCTCAGGCACAGGCAGCAGCGTGATGTACCGACCGCGTCCGCGGCCTCGAGGCTTCCTGCTCCGCTCCAGTGCAGTCAGGCGTGCAGGCACCACGCACCTGAGCTCGGTCAACACCCCTGGGGTCCTGTCCCTCCCGAGATGTGACAGAAATGGCCCCACACACGAGCGGCCTGATGCTCGGAGGCCCTGTGGCCCCTGGGTGACTCAGTGAGCGGCAGGGATAGGGCTGGATCCACAGCCCCGCCCCAAGCTTCCTGCCACCGTGGGAACCACAAGCTCCACGTTTCCCTGTCAGGTAAGCCTTTCGGAGGCAGGCCTGAAATCCCAGCCTCACTGTGTCGCCTGACTAGTGAAACGAGCCCCGCGGCAGGCACGCGCACCCCCCCTCAACCTCTGGGCGGGCACGCGCACCCCCCCCCCCCCCCCGCTCAACCTCTGGGCGGGCACGCGCACCCCTGCTCAACCTCTGGACTCGGGCTCCATCTCCTCCTCATCTCCCTGTGGGGTGGGCACTTGTAATACCTCCATGTTACAGAAAGGAAACTGAGGCACAGAGAGGGCCATGCCTCGCCCAAGGTTAGCCAGCCAATAGATGGGAGGGCTGAGATTTGACCCATGAGCATGCCTCCAAGCCCATTTCATTCATTCAGCAAGGCTCGGGCAGGACAGGCTGGTGCCCGCGCTGGGGATGCCTGAACACCAGATGGACTGGCCTCAGCCCATGGCGGGCAGCAGGCTGGGCACGGGCATCAACATGGCAATGCCAACCTCAGAGGGCATTACGGAGGATGGGCAGGGGCTGGCCTACCCCGTGGCTGCCTGTGAGATCAAGAAGGTAGGTCACAGTCAGGGACCAGGGGCCTGCAATACCCACTCTCAGAGGGCAAGCCCTAGAGACTTCTGAGCTGCCAGAGGGGTGGGCCTTCCCCACAGGGTTTAAACCCTTGTGAGCTTTTAAATGCGGAAACCCACAGAAGGCGCCCATCCAGCGTCTGGTGGGCAGTGGTGAGCCATGAGCGTCTGCTCC
CACACGGGGGCAAGAGAAGGGAGGCAACTCCTGGGAGGTCAGGGGCTACAGATGGCAGCTCCTGGAGAGCCCGGCACTTACTTCACCTGTGGGGCGCCCTCCCGGCACCCTGGGGCTCCCCAGCTGTAACACCTTCCACCCAGGGCTTCAGGGGCAGGGTGGGGGGCACCCGAACACACAAATGCCGGGGGAGAGCTCCTGACCATGGGGTCAGGCCCTGTGCCGGATGGCAGATGCCTAACAGAGATCACATCCCGATGCCCCCACCACAGGCACCAGCAGCGGGTGTGATCTGCCAAGCAGGAGAGAAGTGCCCAGCTTCTGTCAAATGCGTTCGTGACCCGCTGCCAACTGCCCTGGGAGGCGCCGGCGTCTCACTGCAGAGTCAGCCCTGTGGCCCCTCCACGGCCCCCAGGCCCAAGGCCATACGGGCACTGATGGCCGTGCCCACAAACCATTCCAGTCACTGTGGCCCTAGGCCACCCCCCCCACCAGGGGCTCCCTGCACCTCACGAGCTCTGGTGCTGTGAGCCTTCTCTGTGCCAGGGCACGGGGCCTGGCTCACCCCCTCTCCTGCTCCCTGGCACATCCGCTGTTGGGCAAAACATGGACCTGCCACTGAAATCACTACCTGGGCACTGAGTCACTCCCAGAGAATATGGATGAGAACAGACACTCCCCCCGGATAATCCCTGTCCCTCACTTCCCAGAGACGCAGCTCACGGGAAGCCCCATTCACTCCCCGTGGGAGGACCCTGGGGGACAGGGATGGGCTGCGGAGTCCCCGCTGCCCTCCAGCCTCACGTTGCCTCCTCCTCGCTGTCCAGCGGGTCCCGGCCAGTCTCAGCAGCGGAGCTGAGGGAGCTCAGTGTGCAGCATAGCTTGGGGCCGCCGTGGCCTGTGCCCTCTCTCTCTGGGGCCGCAGTGATCTCCTCTCCCTCACTCAGTGCACGGGACAGCTCCTCCTCCGTCACAGCTTTGGGATGAAAGACAGAAGACAGCATGAGTGGCCTCACCCACGTGCAGGCCACATGCACTGCAGCTCCCGTCCTCACTGTGGCTTCAGGCACAGTCTGCTTGTGAAATGCATGCACGTGTATCCACCTCCAGGGACAACTCCCAGAGTAGCAGCCGGTTCCTCACTGTCCCATCCCCAGCCTGGCACAGGCTGACACACAACAGATGGTGGAGGGCTGCTCAGGAATCTCAACACCAGCCTTGGCCAGAAGCAAATACTCCTCAAAACCTCAACTAAGACACAATAGAAAAAGGAACAGACCATATTGAATTTATTCCATTTCTCTCATATATCAATTTCCCTGAAGTTTATATTATTAATATCAATAAAATTGTCTGGGAGAAAATAGTGGTGTCTGTATACCTGACAAGGATGAGACACTAGTGTGCTGAGAATGCCAAGGATGAACAAACAGCATGAAACCACAGCCTGGAAAACTGTGTCGGTGCTGGCGCTGGCTAGAGGAGGCACGAGTGCCTCCAATAGGTGGAGCGCAGCAGCAGGCACTGCGGTGCTGGGACGGCCCCTCCCCACGGCAGGGGCGCGATGGCACCGCCACCCTAGGTTCACAGTGGCCCGTGGAGCCTGCCCAGTCCCTGTGGACCAGTGCGATGCTGCTTGCCAGATACTGACGCCCCCGCTCGCCATGGCGCATGGCGATGGTCAGAGCAGGGCTGCTACTCACAGAAGCAAAAGAAGGAACCCTTTTGCTTTGCTACCAGGTCCTGCGGTCGTTGGGGGATACCCAAACTGTCAGTCCCAGGAGGGACCCTACGCTGCGCTGCTGCATTCGGGTGGCGGGATCAAGAGGAGACACAGAAGCCAGGGGAACAGCCTCTGGAGGAGACTTCACAGGACACATCTATGTCCCGCCAGACCAGGTATTTGCAGAAAAGGAGAAGAGAAAAGAGGGCTGGGGACATCCCCTTCCAGGGATTGTTTTGGGAGGGCCGGTGACTCCGCTGCGGCCACCTACCCTGGTTGTCCAGCTTCTGTAGGCGCGGCAGGGTGCGCAGCACGGTCATGCGGTGGCGGTGGGGGCTGGTGCCGCAGCACGGGTTCTCGGCCAGCCACAGCACCCGCAGACGCGGCAGCCCCTTCAGGTAGAAGAGCTCAGCCAGGCTGGGGATGCGGTTCCTCCGCAGGTACAGCTCACTCAGGCGCTGGCACCGGCTCACAGGCTCCAGGGTGGAGATGCTGTTGACACTGCACGGAGACCAGCACAGTCAGCGAGGGACGTGGCCAGGGCCCCCAGGGCCACCTCTCAATCCCCACCCCCAGTAAAAGGCACTCATGGGACCTGTGTCCCTGCCCTCTCCTGAGAAGCCTAAATCGGATGTCACAAGTCACGTGCAGCAGGACCTGGGCCGAGGAGAGAGCTGTAGGAAGGCCAGGCCCTGAACTCAAAGGCGGACTGGGGTGGACCCCACCAGCAACAGCCCCTTGGCCCGACGCTCCACATCAGCTCCTCAGGGCGCTAGAGTGCGGGAGGTGGGGGATGTGGCCCTCCTTCACAGGTGAGGAAAATTAAGGCCTCTCAGGGGACATATCATGTTGCCCCAAAGCAGGGAGCGGCCAGAAAAACTCATGGCAAAAACTAGGAGCCAGCTCCACGTGACATGGGAGTGAGCACGGACCTTCCAAACCCCCACTTGAGGGCGGCAACACTGGGGATGGGCCTCATTTCCATTCTACAGAACGTGGACGCGTCAGAGAAGAGAAACAGCAGGCCTGGAGCGGGGACCTGCAGGCTTTACCCTGCAGCGTGGGGTCCGTCCCCTCCACAAGCGAACACGCGGAGCCGCTCCCGCAGGCCCTCAAAGGCGCGGAGCCAGGGCCCCCTGCCTGGAGGGCTGCACTCGCGTCCGGCAGGCGCCTCAGAAGGGCGGTCACCAGGCCCCCATGGGCAGCCTGCCGTCCTGAGCCCCCCTCCCCATGCCATCCCTTCACTCGGGGTTTCCCAGGTCTCATGCAGCTCCTAGCTATGAGGCCGCCCCATTTTACCAAGAGCAAAACTCCGGCTGTGGGACTCTTTCCAGGATGGGGTCTGCCTCAGGCACAGGCAGCAGCGTGATGTACCGACCGCGTCCGCGGCCTCGAGGCTTCCTGCTCCGCTCCAGTGCAGTCAGGCGTGCAGGCACCACGCACCTGAGCTCGGTCAACACCCCTGGGGTCCTGTCCCTCCCGAGATGTGACAGAAATGGCCCCACACACGAGCGGCCTGATGCTCGGAGGCCCTGTGGCCCCTGGGTGACTCAGTGAGCGGCAGGGATAGGGCTGGATCCACAGCCCCGCCCCAAGCTTCCTGCCACCGTGGGAACCACAAGCTCCACGTTTCCCTGTCAGGTAAGCCTTTCGGAGGCAGGCCTGAAATCCCAGCCTCACTGTGTCGCCTGACTAGTGAAACGAGCCCCGCGGCAGGCACGCGCACCCCCCCTCAACCTCTGGGCGGGCACGCGCACCCCCCCCCCCCCCCCGCTCAACCTCTGGGCGGGCACGCGCACCCCTGCTCAACCTCTGGACTCGGGCTCCATCTCCTCCTCATCTCCCTGTGGGGTGGGCACTTGTAATACCTCCATGTTACAGAAAGGAAACTGAGGCACAGAGAGGGCCATGCCTCGCCCAAGGTTAGCCAGCCAATAGATGGGAGGGCTGAGATTTGACCCATGAGCATGCCTCCAAGCCCATTTCATTCATTCAGCAAGGCTCGGGCAGGACAGGCTGGTGCCCGCGCTGGGGATGCCTGAACACCAGATGGACTGGCCTCAGCCCATGGCGGGCAGCAGGCTGGGCACGGGCATCAACATGGCAATGCCAACCTCAGAGGGCATTACGGAGGATGGGCAGGGGCTGGCCTACCCCGTGGCTGCCTGTGAGATCAAGAAGGTAGGTCACAGTCAGGGACCAGGGGCCTGCAATACCCACTCTCAGAGGGCAAGCCCTAGAGACTTCTGAGCTGCCAGAGGGGTGGGCCTTCCCCACAGGGTTTAAACCCTTGTGAGCTTTTAAATGCGGAAACCCACAGAAGGCGCCCATCCAGCGTCTGGTGGGCAGTGGTGAGCCATGAGCGTCTGCTCC
Task1_train_28459
The gene TSPEAR (thrombospondin type laminin G domain and EAR repeats), on Chromosome 21, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; not specified
ATCTCGGAAATGACACCTGACTTGGGACTCGCTGTGAGCCGGTGGCACCTGCGAGAGAAGGTGAGCCCCCGGGGGGAAGCAAGGCTCTGGGAGGAGGCCGGCCTCGGTGAGCCCTTGGGGGGAAGCAAGGCTCTGGGAGGAGGCCGGCCTCGGTGAGCCCTCGGGGAAGTAAGGCGCTGGGAGGAAGCTGGCCTCAGTGAGCCCTCGGGGAAGCAAGGCTCTGGGAGGAAGCTGGCCTCGGTGAGCCCACAGTGGGGAAGCAAGGTGCTGGGAGGAAGCCGGCCTCGGTGAGCCCTCGGGGGGAAGCAAGGCTCTGGGAGGAAGCTGGCCTCGGTGAGCCCTCAGGGGGAAGCAAGACTCTGGGAGGAGGCCGGCCTCGGTGAGTCCTCGGGGGGAAGCAAGGCTCTGGGAGGAGGCCGGCCTCGGTGAGCCCTTGGGTGGAAGCCGGCCTTGGTGAGCCCACAGGGGGGAAGCAAGGCGCTGGGAGGAGGCCGGCCTTGGTGAGCCCACGGGGGGAAGCAGTGTGCTGGGAGGAAGCTGGCCTCGGTGAGCCCTCGGGGGGAAGCAAGGCTCTGGGAGGAGGCCGGCCTTGGTGAGCCCTCGGGGGGAAGCAAGGCTCTGGGAGGAAGCCGGCCTCGGTGAGCCCTCGGCGGGAAGCAAGGCTCTGGGAGGAGGCCGGAGTTGGTGAGCCCTCGGGGGGAAGCAAGGCTCTGGGAGGAAGCCGGCCTCGGTGAGCCCTCGGGGGGAAGAAAGGCTCTGGGAGGAGGCCGGCCTTGGTGAGCCCTTGGGGGGAAGCCGGCCTTGGTGAGCCCACAGTGGGGAAGCAATGTGCTGGGAGGAAGCTGGCCTCGGTGAGCCCTCAGGGGGAAGCAAGGCGCTGGGAGGAGGCCGGCCTTGGTGAGCCCTTGGGGGGAAGCCGGCCTTGGTGAGCCCACAGCGGGGAAGCAAGGCTCTGGGAGGAAGCCGGCCTCGGTGAGCCCTCGGCGGGAAGCAAGGCTCTGGGAGGAGGCCGGAGTTGGTGAGCCCTCGGGGGGAAGCAAGGCTCTGGGAGGAAGCTGGCCTCGGTGAGCCCTCGGGGGGAAGCAAGGCGCTGGGAGGAGGCCGGCCTTGGTGAGCCCTTGGGGGGAAGCCGGCCTTGGTGAGCCCACAGGGGGGAAGCAATGTGCTGGGAGGAAGCTGGCCTCGGTGAGCCCTCGGCGGGAAGCAAGGCTCTGGGAGGAGGCCGGAGTTGGTGAGCCCTCGGCGGGGAAGCAAGGCTCTGGGAGGAAGCCGGCCTCGGTGAGCCCTCAGCAGGAAGCAAGGCTCTGGGAGGAAGTTGGCCTCGGTGAGCCCTTGGGGGGAAGCTGGCCTTGGTGAGCCCACAGTGGGGAAGCAAGGCTCTGGGAGGAAGCCGGCCTCAGTGAGCCCACAGTGGGGAAGCAAGTCTCTTGGAGGAGGCCGGCCTTGGTGAGCCCACAGTGGGGAAGCAAGACTCTGGGAGGAAGCCGGCCTCGGTGAGCCCTCGGGGGGTAGCTGGCCTCGGTGAGCCCTCAGGGGGAAGCAGGGCTCTGGGAGGAAGCCGGCCTCGGTGAGCCCTTAGGGGGAAGCAAGGCACTGGGAGGAAGCTGGCCTCGGTGAGCCCTCGGGGGAAGCAAGTCTCTTGGAGGAAGCTGGCCTCGGTGAGCCCTCGGGGGAAGCAAGGCTCTGGGAGGAAGCTGGCCTCAGTGAGCCCACAGTGGGGAAGCAAGGCTCTTGGAGGAGGCCGGCCTCGGTGAGCCCACAGTGGGGAAGCAAGGCTCTGGGAGGAGGCCGGCCTCGGTGAGCCCACAGTGGGGAAGCAAGTCTCTTGGAGGAGGCCGGCCTCGGTGAGCCCACAGTGGGGAAGCAAGTCTCTTGGAGGAGGCCGGCCTCGGTGAGCCCACAGTGGGGAAGCAAGTCTCTTGGAGGAGGCCGGCCTCGGTGAGCCCACAGTGGGGAAGCAAGTCTCTTGGAGGAGGCCGGCCTCGGTGAGCCCACAGTGGGGAAGCAAGGCTCTGGGAGGAGGCCGGCCTCGGCAGCTCATTACCTGTAAATAATACTGTTCACCGAGAAGGTACGCCCATCGAAGGAGTTGGCCACCACCAGGAAATAATCTTCTCCCACCGAGAAAAACTCCCAGTCCAGAGCACTGCAGGAACAAGTGGGTGGATATTAGGACACAACAGACATCGCCAGGGAACTGGGGGATTGGCCAGAAGCTACCTCCAAAATTTATAGAGGAGGAGCCGGGGCCAAAGTGGGGAGTGATTTTCTCACAGTCACATATGTGTTGGTCTATTCCAGGAAAATGTAAATTAGTTGTTTGCTTAAAAAAAATTTCAAATTTTATTTTATTTTATTTTTGAGATGGAGTCTCATTCTGTCACCCAGGCTGGAGTGCAGTGGCGAGATCTCGGCTCACGGCAACCTCTGCCTCTCGGATTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGTGTGCGGCACCACGCCCGGCTAATTTTTGTATTTGTAGTACAGACAGGGTTTCACCATGTTGTCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCTGGCCTCAAATTTTAAATTATGGTAAAATACATATAACATAACATTTCCCACCTCAACCATCTTTAGGTGCACAGATCAGGGGCATTAAGCACATTCATACTGCTGTGTGGCCGCCCCCACCATCCACCTCCAGAACGCCTTCATCCTGCAAAACCGAAGCTCTGCACCCAGTAAACATCACCCCCTCCCCCCTCCCCCCCCCCCCCCCCCCAGCCCCGGCACCCACCACGCCACTTTCTGTCTCTATGAATTTGACCACTCTAGGGACCTCATATGAATGGAATCGCACGGTATTTGTCCTTTGTGTCTGCCTTAGCTGAGACTCCAGTGACTCAAGGTTCATCCGTGTCGCACTGTGTGTCAGAATCGCCTTCCTTTCTAAGGCCGAGTAACGCTCCGCTGTGTGAATGGACACGTTGTGTTTGTCCATCCGCTGACAGACACTTGGGGAATTTCCTCCATGTGGCTACTGTGAATGCTGCTGCTATGAACACCGGGGTACAAAAGTCCACTTTTAAGAGGTTGAAACAATCAGAGAAAAAGTCTCAGGCTGCTGGTGCCTGCTGGAGGCAGGAGCTTGGTTTCCCGCTCTGGACACTGTGCAGAAATGGCGTCACAGTGCTGTGGCCTCTGTGCCTGGTTTCTTCTCTCAGCATTGTGTCTTCAGCTGTGAGGTCAGCGGCCGTGAGGTCACTCCAGGAGGTGCCTACAGGACCTGCAGGACCTGCTCGTTCACAGATGTTCTCCTAGAAGCAGAAGCTGTTTCTTGTTGCAAACAAATTTGCTGTGTCCTGTCTTAGGAGTCTCACCTGAATTTACCAAGGATGCATCTGTGCTTGGGGATGGCTCGGTTTGAGGGGTCTGAGGAGCGGCTCCCCTGGATCCTTTCCTCCCCAGGAGCCCACCTGCCGAGCTGTCAGCGTCAGCCCCACATCTCAAGATGAGGAAATGGAGGTCGAAGCCATGCACACGCAGGCGTCCTGCTGACATGCAGGCCAGGCGGGTGCCTCTGTATTCAGCAGCCTCAGGGCTGTGGCCAGTTCAGGCAGCAGAGGGGCCTCATCCCGGTGCTTCCCTGCAGGCAGTTGTGGGGCCGGCCTGCAGCAGGGGCTCAGACAGGGCCTTGGGAGAGGGAGGGATCACAGAGGTGTCCAGTGACAGGCAGGGCGGGCAGAGCCCATGGGGCCTTGGGCTCCTCACTCCTTCGGTCAGTCAGGGTGACATCTGGAGCCACCTCCATTAATGGTGGGTTATGATTTGGTTCCCATGCAGCCCGTGCCAGCTCGCTGGGAGGAGGACGAGGACGCCTGTGATCACATGCTCTGGTCTGGAGGCACGGCCGCGGGCCCCGGGTCAGTGTGAATCCGCGGGGTTACTCCTCAGTCGGATCTGAGCTCTGAAACCCAGACCCGAGGAAGACAAGCGGCCACGTCGGATGTACCAGTGGTGGAAGATCC
ATCTCGGAAATGACACCTGACTTGGGACTCGCTGTGAGCCGGTGGCACCTGCGAGAGAAGGTGAGCCCCCGGGGGGAAGCAAGGCTCTGGGAGGAGGCCGGCCTCGGTGAGCCCTTGGGGGGAAGCAAGGCTCTGGGAGGAGGCCGGCCTCGGTGAGCCCTCGGGGAAGTAAGGCGCTGGGAGGAAGCTGGCCTCAGTGAGCCCTCGGGGAAGCAAGGCTCTGGGAGGAAGCTGGCCTCGGTGAGCCCACAGTGGGGAAGCAAGGTGCTGGGAGGAAGCCGGCCTCGGTGAGCCCTCGGGGGGAAGCAAGGCTCTGGGAGGAAGCTGGCCTCGGTGAGCCCTCAGGGGGAAGCAAGACTCTGGGAGGAGGCCGGCCTCGGTGAGTCCTCGGGGGGAAGCAAGGCTCTGGGAGGAGGCCGGCCTCGGTGAGCCCTTGGGTGGAAGCCGGCCTTGGTGAGCCCACAGGGGGGAAGCAAGGCGCTGGGAGGAGGCCGGCCTTGGTGAGCCCACGGGGGGAAGCAGTGTGCTGGGAGGAAGCTGGCCTCGGTGAGCCCTCGGGGGGAAGCAAGGCTCTGGGAGGAGGCCGGCCTTGGTGAGCCCTCGGGGGGAAGCAAGGCTCTGGGAGGAAGCCGGCCTCGGTGAGCCCTCGGCGGGAAGCAAGGCTCTGGGAGGAGGCCGGAGTTGGTGAGCCCTCGGGGGGAAGCAAGGCTCTGGGAGGAAGCCGGCCTCGGTGAGCCCTCGGGGGGAAGAAAGGCTCTGGGAGGAGGCCGGCCTTGGTGAGCCCTTGGGGGGAAGCCGGCCTTGGTGAGCCCACAGTGGGGAAGCAATGTGCTGGGAGGAAGCTGGCCTCGGTGAGCCCTCAGGGGGAAGCAAGGCGCTGGGAGGAGGCCGGCCTTGGTGAGCCCTTGGGGGGAAGCCGGCCTTGGTGAGCCCACAGCGGGGAAGCAAGGCTCTGGGAGGAAGCCGGCCTCGGTGAGCCCTCGGCGGGAAGCAAGGCTCTGGGAGGAGGCCGGAGTTGGTGAGCCCTCGGGGGGAAGCAAGGCTCTGGGAGGAAGCTGGCCTCGGTGAGCCCTCGGGGGGAAGCAAGGCGCTGGGAGGAGGCCGGCCTTGGTGAGCCCTTGGGGGGAAGCCGGCCTTGGTGAGCCCACAGGGGGGAAGCAATGTGCTGGGAGGAAGCTGGCCTCGGTGAGCCCTCGGCGGGAAGCAAGGCTCTGGGAGGAGGCCGGAGTTGGTGAGCCCTCGGCGGGGAAGCAAGGCTCTGGGAGGAAGCCGGCCTCGGTGAGCCCTCAGCAGGAAGCAAGGCTCTGGGAGGAAGTTGGCCTCGGTGAGCCCTTGGGGGGAAGCTGGCCTTGGTGAGCCCACAGTGGGGAAGCAAGGCTCTGGGAGGAAGCCGGCCTCAGTGAGCCCACAGTGGGGAAGCAAGTCTCTTGGAGGAGGCCGGCCTTGGTGAGCCCACAGTGGGGAAGCAAGACTCTGGGAGGAAGCCGGCCTCGGTGAGCCCTCGGGGGGTAGCTGGCCTCGGTGAGCCCTCAGGGGGAAGCAGGGCTCTGGGAGGAAGCCGGCCTCGGTGAGCCCTTAGGGGGAAGCAAGGCACTGGGAGGAAGCTGGCCTCGGTGAGCCCTCGGGGGAAGCAAGTCTCTTGGAGGAAGCTGGCCTCGGTGAGCCCTCGGGGGAAGCAAGGCTCTGGGAGGAAGCTGGCCTCAGTGAGCCCACAGTGGGGAAGCAAGGCTCTTGGAGGAGGCCGGCCTCGGTGAGCCCACAGTGGGGAAGCAAGGCTCTGGGAGGAGGCCGGCCTCGGTGAGCCCACAGTGGGGAAGCAAGTCTCTTGGAGGAGGCCGGCCTCGGTGAGCCCACAGTGGGGAAGCAAGTCTCTTGGAGGAGGCCGGCCTCGGTGAGCCCACAGTGGGGAAGCAAGTCTCTTGGAGGAGGCCGGCCTCGGTGAGCCCACAGTGGGGAAGCAAGTCTCTTGGAGGAGGCCGGCCTCGGTGAGCCCACAGTGGGGAAGCAAGGCTCTGGGAGGAGGCCGGCCTCGGCAGCTCATTACCTGTTAATAATACTGTTCACCGAGAAGGTACGCCCATCGAAGGAGTTGGCCACCACCAGGAAATAATCTTCTCCCACCGAGAAAAACTCCCAGTCCAGAGCACTGCAGGAACAAGTGGGTGGATATTAGGACACAACAGACATCGCCAGGGAACTGGGGGATTGGCCAGAAGCTACCTCCAAAATTTATAGAGGAGGAGCCGGGGCCAAAGTGGGGAGTGATTTTCTCACAGTCACATATGTGTTGGTCTATTCCAGGAAAATGTAAATTAGTTGTTTGCTTAAAAAAAATTTCAAATTTTATTTTATTTTATTTTTGAGATGGAGTCTCATTCTGTCACCCAGGCTGGAGTGCAGTGGCGAGATCTCGGCTCACGGCAACCTCTGCCTCTCGGATTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGTGTGCGGCACCACGCCCGGCTAATTTTTGTATTTGTAGTACAGACAGGGTTTCACCATGTTGTCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCTGGCCTCAAATTTTAAATTATGGTAAAATACATATAACATAACATTTCCCACCTCAACCATCTTTAGGTGCACAGATCAGGGGCATTAAGCACATTCATACTGCTGTGTGGCCGCCCCCACCATCCACCTCCAGAACGCCTTCATCCTGCAAAACCGAAGCTCTGCACCCAGTAAACATCACCCCCTCCCCCCTCCCCCCCCCCCCCCCCCCAGCCCCGGCACCCACCACGCCACTTTCTGTCTCTATGAATTTGACCACTCTAGGGACCTCATATGAATGGAATCGCACGGTATTTGTCCTTTGTGTCTGCCTTAGCTGAGACTCCAGTGACTCAAGGTTCATCCGTGTCGCACTGTGTGTCAGAATCGCCTTCCTTTCTAAGGCCGAGTAACGCTCCGCTGTGTGAATGGACACGTTGTGTTTGTCCATCCGCTGACAGACACTTGGGGAATTTCCTCCATGTGGCTACTGTGAATGCTGCTGCTATGAACACCGGGGTACAAAAGTCCACTTTTAAGAGGTTGAAACAATCAGAGAAAAAGTCTCAGGCTGCTGGTGCCTGCTGGAGGCAGGAGCTTGGTTTCCCGCTCTGGACACTGTGCAGAAATGGCGTCACAGTGCTGTGGCCTCTGTGCCTGGTTTCTTCTCTCAGCATTGTGTCTTCAGCTGTGAGGTCAGCGGCCGTGAGGTCACTCCAGGAGGTGCCTACAGGACCTGCAGGACCTGCTCGTTCACAGATGTTCTCCTAGAAGCAGAAGCTGTTTCTTGTTGCAAACAAATTTGCTGTGTCCTGTCTTAGGAGTCTCACCTGAATTTACCAAGGATGCATCTGTGCTTGGGGATGGCTCGGTTTGAGGGGTCTGAGGAGCGGCTCCCCTGGATCCTTTCCTCCCCAGGAGCCCACCTGCCGAGCTGTCAGCGTCAGCCCCACATCTCAAGATGAGGAAATGGAGGTCGAAGCCATGCACACGCAGGCGTCCTGCTGACATGCAGGCCAGGCGGGTGCCTCTGTATTCAGCAGCCTCAGGGCTGTGGCCAGTTCAGGCAGCAGAGGGGCCTCATCCCGGTGCTTCCCTGCAGGCAGTTGTGGGGCCGGCCTGCAGCAGGGGCTCAGACAGGGCCTTGGGAGAGGGAGGGATCACAGAGGTGTCCAGTGACAGGCAGGGCGGGCAGAGCCCATGGGGCCTTGGGCTCCTCACTCCTTCGGTCAGTCAGGGTGACATCTGGAGCCACCTCCATTAATGGTGGGTTATGATTTGGTTCCCATGCAGCCCGTGCCAGCTCGCTGGGAGGAGGACGAGGACGCCTGTGATCACATGCTCTGGTCTGGAGGCACGGCCGCGGGCCCCGGGTCAGTGTGAATCCGCGGGGTTACTCCTCAGTCGGATCTGAGCTCTGAAACCCAGACCCGAGGAAGACAAGCGGCCACGTCGGATGTACCAGTGGTGGAAGATCC
Task1_train_28460
An alteration has been detected in TSPEAR (thrombospondin type laminin G domain and EAR repeats) on Chromosome 21. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
CACCCCCAATCCCAGTGCACTGAGCCTCACTCTGCCCCCGTGGCAGGAGGCTCATCCCGCCTCTTCCTGGCTCCCAGGCACGCTCACCTGTTCCATCCACAGCACTAGCGAGCTCAAGGTGTGTTCCTTCTGGCACTGCTGCCTCCTCACCTGGGCGCCTGCGGCTCATCTGGGCGGCCACAGCAGCCTCCCAATGGCTCACTCCCTCCCAGCCACCGACCAGTCATTATCGTGCAGCCCTGTCAACCCCACAAGGGCAGGCTTCACGTTTCACTTGCAGCCTGTGGCTCTGGGTGGTGACCCTGCTGCCTACTCCCAGCCCCACTGCCCTGCAGGTACCCTCCCAACTTTCCCAGCCCTCACTTCCTCCTGGTGAGGGCTGGGAAAGTGGGGAGGGTGCTCCCTGACATCTGCTCTCCTCGTGCCCTGAACATCCACGTAAAGCTGCCCTTCCCCACTGGACCATGAGTGCCCGAAGGGTGGGGCGGTGGTCACCTGGATGACGCTGTGCCCCAGCCTGCCAGAGGGCTGAGCACGTGGGAGTCCCGGAGCAATTCTCTGCACGCATTAAGGCGTGTGATTGGTCCCTGTGAGCCGCGGCTCCTGGTCCGGCCCCTGCGGGCTTCTCAAGGTGGTCACACTCCCGGTTTCCTAAGCTGCTCTTACTCCTGCTGGGTGGAGGGGCTCCAGGAACCTGCGACTGCTGAACTCCATCTTCCTCCCTTCTGTTTTGAAGCTCATTCCCATGTGCTACCTGCAGGCTTGCTCTAATGAGATGTATGTATGGAATGTTATGTATGGAATGTTCCAGAATGCCTTCAATCATTTCAGCCATAAAGCCCCACCCACCACATGCACAGCTTCTTGTCTAATGCAGGGGTAGCCTGGCAAGGCCTGACTGTTGTCACTGTTTTTCCAGACTCCCTGATGGGGGCGGGGGGTCCGGGCATCAGCGTCTGCCATGGTTCTGCCCCTGTACCAGCCTCACTGGGACGTGGCATGGGGGCAGCTCACGTGGCAAGAGTGGCCTGGGTTAGTCTCACTGCCTCGGGTGCAGAAGGCCCTGAGAACATTTCTGCAGGGGAATGAGTCGCCAGGTCAGGGGGCACAGAAGATTCCAGAAGGACACCAGGGAGGTGATGTCTTATGAGAGGCACGCTTCCAGCAAACAGTGGGAGTGCTGTCACCGGCGCTGCAGAGCCCCTGAGCTGCCTCCTCCGGGGAACTGGGCTCACATAGAGGCTGAGCCCGAGGTGGGAGATGCGCCCCCACCTGTCTCGTACTCCGCACCTCTGCTCCGGTCACAGTCCTCAGCACACTTGCTGGGAGCAGGCAGCACGCTGTCCCTGCCCCTGGAGGTGGCCTAATAAGCACCTGTTGCTGCCTCAACTCAAAGGTCTCGTGGTGGCTGGAACCAGCCAAGGGACACTTGAGGCCTGGAGAGGAGCGCCACGTGCTGCCCCGACCCGGCCCCCACGCTGCCCTGGGTCAGAGCCAAGCTGCCCAGCTGCCCCAGGGCCAGGGCCCTGACGACCATACAGACTCAGATTAGACCGCGGGAGCTTCCAAGGGGAGGGAGGGCCTGTTCTGAGCCCGGGGGCTGCTTTATGGAGAACACCATGCCAGGGTGGGGCAGAGCCAGGGTGCGCCTCCTGCCTTATTTCCAGGCACCTGGACTGTCCCTGGGCGCACAGAGGCTCTCAGGCAAGAAGGGCTCAGACGCCAGGCAAGGATCCTGTGCCGTCCAGAGGAGCAGGCCCTGCCTGGGTTTTGGGGTCACGGGTGCAGAGCAGCACTAGGTTTGGCTCTCGGTGGACCCCCAGCCCACATCACCTGTCCAGCAGGTGCAGGTGACAGACGCAGTGGCCAGCAATGGAGAGCCGGGGCTCATGCGGGGGGCCTTACCGGGAAGGACTGGAAGAGCTGGAAGGAGCCCAGGAGTCGGATGTAGAGGTGCGAGTGCACCTTGGTGGAGGTGCCGTTGAAGGTGTTGGCCACCACCAGGAACGAGTAGGGCCCCACACTGAAGAACTCCCAGTCGTAGGCGCCGGAGGTGGCGATGGTCTGGTTGGCCTCGAAGAGCCGGGTTGCCGGGTTCCACTTGTAGATGACACTGTCGATGTTGTGGTTGTCGCCTGGAACCAAGGGACTGTGCTGGGGGCAGGGAGGCAGATTCCACAGCCCCATGGCAGCCCCGACGGAGGCAGAGCCCAGTCCAAGTCCCTCCCCGAGGACCGAAGACCCACGAGGACAAGGCCAACCGCTGGGGACATCCTTTCTTACCTTGAGCCTCCCGCCCTCAGCCCCTTGCTGACTGCACCTCTGGGCCATCACAGGTGCTATTCCCATATGGAAATGCTTGGTGGCCCCCACCGCCCTTGGGACAGGTGTACATCTCCATGGCCTCCCCGTGTCCTGGAGGTGGGGCCCACCGTGTCCTGGCCCCGCTGCCCACGGCTCTCCAGCATCCCCACAGGCCAGGCCTTCCCACGCACTGCCACCTCTGCCCGGAGGCCCCTCCCTCTCAACTGTGGAGCTCCCCCATTGGGTGGGTCGTGGGCTCAGGGGAGTGCAGAGCTGTGGAGCCTGGGCAGGGTTGGGTCTGGGAGGTCCTGCAGGCGGAGAGATGCCCCCAGACCCAGGCCGGCTCGTGGAGCTACACAATGGCAGGTACTCATGGTGGCCGCTCAGGGCAGTGTCCTGGCCTGGAAAGCAGGTGTCCCGGTACCTTCCAGGCCAGTGCTCCTCACTGTCTCTGCTGGCACAAGGCGGGACAGCTGCCTGTCCTCAGGAAACAAGGCCATGGAGGCCATCCAGATCCCATGTCCTCGGCAGCTGTCCTCCACCACACACCTGGCCATGCCAGGCACCAGGCCAGCATCCCTGCCATGGGCCTGGGCCCACCACCCAACATCTGCCCTCCCTGTGCTGGTCAGACCTTTCCTGCTGGGAGGCTGCTTAGTCTGTCAGTCAGTCATTGAGGTAGTCAGTCAGTCAGTTGTCAGTCAGTCAGATAGTCAGTCATCAGTTAGTCACTGAAACAGTTAGTCAAGTAGTCAGTCAGGTAGTTTGTCAGTCAGCCAGGTAGTTAGTCAGTTAGTCAGTCAGTCAGCCAGCCAGCCAGCCAATTAGTCAGTGAAGTAGTCAGTCAGCCAGTCAGTTAATTTGTCAGTCAGGTAGTTGGTCAGTCAGTCAGCCAGCCAGCCAGCCAATTAGTCAGTGAAGTAGTCAGTCAGCCAGTCAGTTAATTTGTCAGTCAGGTAGTTGGTCAGTCAGTCAGTTAGCCAGCCAGCCAATTAGTCAGTGAGGTATTCAGTCAGTCAGTCAGTTTGTCAGTCAGTCAGGTAGGTAGTCACTCAGTGAAGTGGTCGGTCAGTTGTGTCAGTCAGTCAGTAAGGTAGTCAGTTGGTCAGTCAGTTAGGTAGTTAATAAGTCAGGTAGTCAGGTAGTTAGTCAGGTAGTCAGTTAGGTAGTTAATAAGGTAATCAGTCAGTCAGGCAGTTAGTTTGGTAGTCGGTCAGGTAGGCAGTCAGTCGTCAGTCAGTCTGAGGTAGTTAAGTCATTGAGATGGTCAGTCAGTAAGTCAGTCAGTTAGGTCGTCAGTCAGTCAGTTCAGTAGTTAGGTAGTCAGTCATCAGTCAGGTAGTTAATCAGTCAGGTAGTCAGTCATCAGTGAGTGAGGTAGTCAGTTGTCAGGTAGTCATCAGCCAGTCAGATAGGCAGGTAGTTAGTCATCAGTCAGTCAGTCAGGTAGTCAGCCAGGTAGTTAATCAGTCAGCCAGTCAGTGAGGTAGTTAATCAGTTAGTCAGTGAGGTAGTCAGTCAGTCAGTCAGTCAGTCAGTTAGTCAGGTAATTAGGTAGTCAGCCAGTCAGTTCAGTGGCTAGTCAGGTAGTTGGTCAGTCATGAGTCAGGTTATTAATCAGTCAGGTAGTTTGTCAGTCAGTCAGTCAATTAGCCAGTGAGGTAGTCAGTCAGTCAGTTCAGTAGTTAGTCAGGTAGCCAGTCATCAGTCAGGTAGTCAGTCAGGTAGTTAGTCATCAGTCAGGTAGTTAGTCAGTTGTCAGGTAGTCACTCAGTCATCAGTCAGTCAGGTA
CACCCCCAATCCCAGTGCACTGAGCCTCACTCTGCCCCCGTGGCAGGAGGCTCATCCCGCCTCTTCCTGGCTCCCAGGCACGCTCACCTGTTCCATCCACAGCACTAGCGAGCTCAAGGTGTGTTCCTTCTGGCACTGCTGCCTCCTCACCTGGGCGCCTGCGGCTCATCTGGGCGGCCACAGCAGCCTCCCAATGGCTCACTCCCTCCCAGCCACCGACCAGTCATTATCGTGCAGCCCTGTCAACCCCACAAGGGCAGGCTTCACGTTTCACTTGCAGCCTGTGGCTCTGGGTGGTGACCCTGCTGCCTACTCCCAGCCCCACTGCCCTGCAGGTACCCTCCCAACTTTCCCAGCCCTCACTTCCTCCTGGTGAGGGCTGGGAAAGTGGGGAGGGTGCTCCCTGACATCTGCTCTCCTCGTGCCCTGAACATCCACGTAAAGCTGCCCTTCCCCACTGGACCATGAGTGCCCGAAGGGTGGGGCGGTGGTCACCTGGATGACGCTGTGCCCCAGCCTGCCAGAGGGCTGAGCACGTGGGAGTCCCGGAGCAATTCTCTGCACGCATTAAGGCGTGTGATTGGTCCCTGTGAGCCGCGGCTCCTGGTCCGGCCCCTGCGGGCTTCTCAAGGTGGTCACACTCCCGGTTTCCTAAGCTGCTCTTACTCCTGCTGGGTGGAGGGGCTCCAGGAACCTGCGACTGCTGAACTCCATCTTCCTCCCTTCTGTTTTGAAGCTCATTCCCATGTGCTACCTGCAGGCTTGCTCTAATGAGATGTATGTATGGAATGTTATGTATGGAATGTTCCAGAATGCCTTCAATCATTTCAGCCATAAAGCCCCACCCACCACATGCACAGCTTCTTGTCTAATGCAGGGGTAGCCTGGCAAGGCCTGACTGTTGTCACTGTTTTTCCAGACTCCCTGATGGGGGCGGGGGGTCCGGGCATCAGCGTCTGCCATGGTTCTGCCCCTGTACCAGCCTCACTGGGACGTGGCATGGGGGCAGCTCACGTGGCAAGAGTGGCCTGGGTTAGTCTCACTGCCTCGGGTGCAGAAGGCCCTGAGAACATTTCTGCAGGGGAATGAGTCGCCAGGTCAGGGGGCACAGAAGATTCCAGAAGGACACCAGGGAGGTGATGTCTTATGAGAGGCACGCTTCCAGCAAACAGTGGGAGTGCTGTCACCGGCGCTGCAGAGCCCCTGAGCTGCCTCCTCCGGGGAACTGGGCTCACATAGAGGCTGAGCCCGAGGTGGGAGATGCGCCCCCACCTGTCTCGTACTCCGCACCTCTGCTCCGGTCACAGTCCTCAGCACACTTGCTGGGAGCAGGCAGCACGCTGTCCCTGCCCCTGGAGGTGGCCTAATAAGCACCTGTTGCTGCCTCAACTCAAAGGTCTCGTGGTGGCTGGAACCAGCCAAGGGACACTTGAGGCCTGGAGAGGAGCGCCACGTGCTGCCCCGACCCGGCCCCCACGCTGCCCTGGGTCAGAGCCAAGCTGCCCAGCTGCCCCAGGGCCAGGGCCCTGACGACCATACAGACTCAGATTAGACCGCGGGAGCTTCCAAGGGGAGGGAGGGCCTGTTCTGAGCCCGGGGGCTGCTTTATGGAGAACACCATGCCAGGGTGGGGCAGAGCCAGGGTGCGCCTCCTGCCTTATTTCCAGGCACCTGGACTGTCCCTGGGCGCACAGAGGCTCTCAGGCAAGAAGGGCTCAGACGCCAGGCAAGGATCCTGTGCCGTCCAGAGGAGCAGGCCCTGCCTGGGTTTTGGGGTCACGGGTGCAGAGCAGCACTAGGTTTGGCTCTCGGTGGACCCCCAGCCCACATCACCTGTCCAGCAGGTGCAGGTGACAGACGCAGTGGCCAGCAATGGAGAGCCGGGGCTCATGCGGGGGGCCTTACCGGGAAGGACTGGAAGAGCTGGAAGGAGCCCAGGAGTCGGATGTAGAGGTGCGAGTGCACCTTGGTGGAGGTGCCGTTGAAGGTGTTGGCCACCACCAGGAACGAGTAGGGCCCCACACTGAAGAACTCCCAGTCGTAGGCGCGGGAGGTGGCGATGGTCTGGTTGGCCTCGAAGAGCCGGGTTGCCGGGTTCCACTTGTAGATGACACTGTCGATGTTGTGGTTGTCGCCTGGAACCAAGGGACTGTGCTGGGGGCAGGGAGGCAGATTCCACAGCCCCATGGCAGCCCCGACGGAGGCAGAGCCCAGTCCAAGTCCCTCCCCGAGGACCGAAGACCCACGAGGACAAGGCCAACCGCTGGGGACATCCTTTCTTACCTTGAGCCTCCCGCCCTCAGCCCCTTGCTGACTGCACCTCTGGGCCATCACAGGTGCTATTCCCATATGGAAATGCTTGGTGGCCCCCACCGCCCTTGGGACAGGTGTACATCTCCATGGCCTCCCCGTGTCCTGGAGGTGGGGCCCACCGTGTCCTGGCCCCGCTGCCCACGGCTCTCCAGCATCCCCACAGGCCAGGCCTTCCCACGCACTGCCACCTCTGCCCGGAGGCCCCTCCCTCTCAACTGTGGAGCTCCCCCATTGGGTGGGTCGTGGGCTCAGGGGAGTGCAGAGCTGTGGAGCCTGGGCAGGGTTGGGTCTGGGAGGTCCTGCAGGCGGAGAGATGCCCCCAGACCCAGGCCGGCTCGTGGAGCTACACAATGGCAGGTACTCATGGTGGCCGCTCAGGGCAGTGTCCTGGCCTGGAAAGCAGGTGTCCCGGTACCTTCCAGGCCAGTGCTCCTCACTGTCTCTGCTGGCACAAGGCGGGACAGCTGCCTGTCCTCAGGAAACAAGGCCATGGAGGCCATCCAGATCCCATGTCCTCGGCAGCTGTCCTCCACCACACACCTGGCCATGCCAGGCACCAGGCCAGCATCCCTGCCATGGGCCTGGGCCCACCACCCAACATCTGCCCTCCCTGTGCTGGTCAGACCTTTCCTGCTGGGAGGCTGCTTAGTCTGTCAGTCAGTCATTGAGGTAGTCAGTCAGTCAGTTGTCAGTCAGTCAGATAGTCAGTCATCAGTTAGTCACTGAAACAGTTAGTCAAGTAGTCAGTCAGGTAGTTTGTCAGTCAGCCAGGTAGTTAGTCAGTTAGTCAGTCAGTCAGCCAGCCAGCCAGCCAATTAGTCAGTGAAGTAGTCAGTCAGCCAGTCAGTTAATTTGTCAGTCAGGTAGTTGGTCAGTCAGTCAGCCAGCCAGCCAGCCAATTAGTCAGTGAAGTAGTCAGTCAGCCAGTCAGTTAATTTGTCAGTCAGGTAGTTGGTCAGTCAGTCAGTTAGCCAGCCAGCCAATTAGTCAGTGAGGTATTCAGTCAGTCAGTCAGTTTGTCAGTCAGTCAGGTAGGTAGTCACTCAGTGAAGTGGTCGGTCAGTTGTGTCAGTCAGTCAGTAAGGTAGTCAGTTGGTCAGTCAGTTAGGTAGTTAATAAGTCAGGTAGTCAGGTAGTTAGTCAGGTAGTCAGTTAGGTAGTTAATAAGGTAATCAGTCAGTCAGGCAGTTAGTTTGGTAGTCGGTCAGGTAGGCAGTCAGTCGTCAGTCAGTCTGAGGTAGTTAAGTCATTGAGATGGTCAGTCAGTAAGTCAGTCAGTTAGGTCGTCAGTCAGTCAGTTCAGTAGTTAGGTAGTCAGTCATCAGTCAGGTAGTTAATCAGTCAGGTAGTCAGTCATCAGTGAGTGAGGTAGTCAGTTGTCAGGTAGTCATCAGCCAGTCAGATAGGCAGGTAGTTAGTCATCAGTCAGTCAGTCAGGTAGTCAGCCAGGTAGTTAATCAGTCAGCCAGTCAGTGAGGTAGTTAATCAGTTAGTCAGTGAGGTAGTCAGTCAGTCAGTCAGTCAGTCAGTTAGTCAGGTAATTAGGTAGTCAGCCAGTCAGTTCAGTGGCTAGTCAGGTAGTTGGTCAGTCATGAGTCAGGTTATTAATCAGTCAGGTAGTTTGTCAGTCAGTCAGTCAATTAGCCAGTGAGGTAGTCAGTCAGTCAGTTCAGTAGTTAGTCAGGTAGCCAGTCATCAGTCAGGTAGTCAGTCAGGTAGTTAGTCATCAGTCAGGTAGTTAGTCAGTTGTCAGGTAGTCACTCAGTCATCAGTCAGTCAGGTA
Task1_train_28461
Here is a variant affecting ITGB2 (integrin subunit beta 2) on Chromosome 21. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Leukocyte adhesion deficiency 1
GACCAGAGCTCAGCAGGTGAGGCCGGTGCCAGGATGAGCAACGCAAGGTCCTGGTTCCCACGGCAGCTGTGCCCACCTCCTGAGCATGGGGACTGTGGGCCATAGTGGGCCAGGCCCACAGCTGCTGACCCTGGGACAGACACTAGCGTTCAGTGCAGTCCCTGGCCTGGTCTGGCATCCTCACTCCCTGTACCCCTCCTGCCATCCTGACCTGCACCCTCACTCCCTGTGGTTGCTCCTGCCATCCTGATCTGCACCCTCACTCCCTGTGCCCCCTCCTGCCATCCTGACCTGCACTCTCACTCCCCGTGCCCCCTCCTGCCATCCTGCCTTTCCTGGGGGACCTGCCTTCCTTCACCTGTCCTCAAAGGTGAAGTGACTTGGCCAGGATTGCACAAACCAGACGTGACCCAAGTCTGTCCCTCAAAGTGGCCCGCAGGGGTTCCTGCCCTGGCAGGTGGGGGTCTGCAGCCCCAGGCCCACATGTGGGTTGTGAGCTCCAGGCATGTCACCTACAGGCTCAGAGACCCCCGCCGCCTGCCTCGGGTCCCTTCCTGGTGAGGGAGGAGCTCCCAGGTCTCAGTTCTGCAAGAGTCCTGGCCGGCTGCTGGCCATGCCTGATGGAGTCCGCCAGCGGCCCCCCAGCCCCAGCCCCTCTGCCTCTCAGGAGCCTGTGGAACATGAGACCTGAAGAAGCAGGGCCAGTGTCACCAAGGTCACCGTGGGGCTGGGCCTGGTTCCAACTGGAGCTGAATGAGACAGGGTCAGTGCCACCAAGGTCACTGTGGGGCTGGGACTGGTTCCGACTGGAGCCGAATGAGACAGGGTCAGTGCCACCAAGGTCACTGTGGGGCTGGGACTGGTTCCGACTGGACTGGAGCCGAACGAGTGATGGGGACGGTGGTGCCTGGTGGCCCTGGGCCCCTCCAGGGCTGAGAGCCGAGCACCAGGATCTCCCAATCCCCTCAAAGGAGCCTCACGCAGCAACCTGACCGCGGGCCACCCCTGGGGACCTGCAACTGCAAGCCTTGCCCCATGAGGCATCCAGCGGGAGATGGCCCGGGCCGTGTGGCATGCTGGTGGGCCTGCCCGGTGTGGAGCAGTGGTGCCCCCAGGGAGCAGGCCGTCTGCTGCCCAGCTTGATGTGGGGTCAGGTGAGGAGGGGAGGGAAAGGGGAGGCTGCTGGGGGTGAGGGGACCGGCCTCTGGCCTCCTTGCAATGCCAAGGGCATCCCGCATGGCTCATCCACCCTGCTGGGCCCACAACACTGGAGGTGAGATCCTCCTTCCGCACCACCCTCGCCTCTGCGGAGACCCCGCAGCCGGAGCTCTGGAGCCGGTCCCCGCTGCACCCCAGCGGCCTCACCTCGGCTCTCATCCACATAGATGAGGTAGCGGTCCATCCCGTCCTGCTGCTCCAGCGTGTAGGCCACCCAGCAGCCCTCTGAGTCCCTCTCCTTGCAGGTCCTGCCCTTCACGGGGTTGTTCGACAGCTGCAGGCCCGGACACGCCGCGCTGCAGTTCTTCCCAAAGGGGCCCTTTTCGAACTTCAGGCACTCGGCGCAGGAGCTGCGGGGAGCCAGGTGTGAGCATCGGTGCCAGGGTGTGCGGGGGCTCCGGCAACGGGGGCTCGGGCTTGGGTGTGTGTCCACCAGGGGGGGCAGGTGGGGTTGGGGCGCCCTCAGGCCAAGGAGGGGGCCCAAGTGGGGCAGATGCGGGTGCAGCGGGTGAACTGGAAGCCTGATCCCAGGGCCCGCGGCAGGTGCGCACAGGAGGGAGGAGGGACACAGGGGCACGGCGGCCGCGGAGGGCCCCTCAGTCCAGACGCACCCGCAGAGAACCCCGCGGTGCAGAGGTGCTCACTGGGGTCCCCGAGTGAGCCCGGCTGCTGGGTAGGTGGCCGGGGAGTGGGGATCCCTGCCCGCCCTGCCTGCTCCGCCTGCACTCACATGTACTTGCCACAGGGTGAGGGGCAGCCGGGGCACTCCTGGCACAGAGGCAGCTGGTAGCCTGAATGGCACTCGCATACGTTGCAGCGGCACCGGCCACGACCACTACACTCAACACGCCGCGGGTTCAGGCAGCCCTCAGTGGTCCTCTCGCACTGGCACGCTGAGCCCTCAAAGCCCGGGTGGCAGCGGCACTTCCCGCAGAAGCAGAGCCCCCTCCCTGGAAGACGGGGCAGCACGGCTAAGCTCCTGCTTGGCCTGGGAACCGAGACCCGCCCGAAACCCCACTGCGGTTGCTCCCTCCGGCCCGCCTGCCTCCTCCAGCCTGGGGGATGTTCCTGAGCAAAAGGCATGGGGCCACTAGCCAGGCCCTTCTGCCCCCGCCAGCCACGTGGCCGCCTCCTGGCCAGTCTGGACCTCCCCTGCCCTGCTGTGAATGGGACCTCAATAGGGCTATGACCGTTCCTCCTGTGGGCCCTCCCCACAAGGACGCCTTGTCCTCATGGACACAGAAACTGAGGCAGGGCGGGGTGCAGGGCCATCCAAGTTCCTGCTGACGCCCGGTGGCTGGGCGAGACTTGCACTGTCTGTCCTCAGGATCCCCCCTTTCTGTTCCACTCGTTGAATGGTCCAGAACGCACCCCCCAACACCAAGTCTGTGCCGCAGGACGGCCGTTGTCCAGCAGGGACCCACGGGCTCACCCGGGCCGCCGCAGACCTGGCCGTTGTAGCGCTCACAGTTGATGGTGTCACACTCGCAGTACTGCCCGTATATCAGCTTGCCGGGGACGTCGCTGGTGTGGCACAGGCACTGCCCGCAGACACAGTCCCCCAGCCCTGAGCAGATGATGGAGTTGTTGTCCTTCCGGCAGCTTCCTTCCAGCTCCTGGCTGCTCCGGCCCTGTGTCTGGCACTCACAGTTTTTCCCAATGTAGCCAGTGTCACACCTGGGGACAGGAGGGGCCCCAAGGTCAGGCTCCCCCCAGTGATGTGGGACAAGGGACAGCCGCCCTGTCCTCCAGGCCCCTTGCCCTTGGTGGAGAACACCCCTATGGCACATTTTGCTTTCCTCGAGGCCTACTGAGCACTTGCCACGGACTAAATGTGCTCAAAACGTGCAGGGGCCCCGCGTTCCCTCCCCAGGATGTCCCGAGGGGAAAGCAGACACCTGGCCTTGGCCTGCGCATGCAGTGGCTCGGCAGGCTCACTGTGGAGCTGTGTTGCAGCCATGCACATGGCCTGTGCTGCGATACCGGTGCTCTGTGAGTGGCTGGTGTCTGCTCCTGCGTGCCCCACATGGTGGCCAGTGGGGACTCGGCACTGCCTCCTGCCACAGCCCCGCCCTCCCTCCTGCGTTCGTGCACTGACAGGCCAGGTTGTGGGAGAATGCAGGGACAAGGGGTTTTTACAGATGTGGAAGCTGGCATCAAGCCGCTGGCAGGCAGGAGCCACACACACCCTGAGGCATCCTCAGAGACGGCACTGCCACGGGCTCTCCTGCTCCCCAGAGGAGGAAGCTGCAGGACCGAGTGTCTGAGTACCTGTGGCAGGGCACCCCCCGACACCTGCCAAGTGTTCCGACTGAGTCACCCCTACAGTCCCGTGAAGAGGCCGCCCCAGGGCTGCACACCCAGGACAGTGGGCGGGGTGGCCACTGAGGCACGAGGACAGCAACAGAGACCACCAAGACCACAGAGACCATCATTGTCCTGAGATATGGGAGGAGGCTGGGGGCAGCAGGGACCTGAAGGTGAGGAAGGGCACTGCCACCAGGACGTGGATTGGCACTGCGGTCAGGACAGGGGAGGAGGTGACCAGAGCAAAGGGGGCAGAGTCCTGGGAGGTCAGCCTAGCAGCTCTGGCCAGGCAAGCAAGGAAAGGGGGACAGCCATCCAGCCCCCGGGCAGGCCGCCTGGCTGAGTGCCATGTGAACCTCCCCACTGGGTCCACCTGTCCCCCACTTCTCCCTGAGGTGGGGTGCCCACGCCTGGCAGGGGGTGTGCACGCCCAAGAGGTGGCCTATGGGGCCCAGGCTCCCAGAAGCCATCACCTGTCCCAGGAGGCTCTCTAGCCACCCATGCCCCAGGGCTGCCAGCCTGATGGCCTTGGGTCCCCAAGGTCAGAGAGAAGCCAGCTCCTAGGGTCAAG
GACCAGAGCTCAGCAGGTGAGGCCGGTGCCAGGATGAGCAACGCAAGGTCCTGGTTCCCACGGCAGCTGTGCCCACCTCCTGAGCATGGGGACTGTGGGCCATAGTGGGCCAGGCCCACAGCTGCTGACCCTGGGACAGACACTAGCGTTCAGTGCAGTCCCTGGCCTGGTCTGGCATCCTCACTCCCTGTACCCCTCCTGCCATCCTGACCTGCACCCTCACTCCCTGTGGTTGCTCCTGCCATCCTGATCTGCACCCTCACTCCCTGTGCCCCCTCCTGCCATCCTGACCTGCACTCTCACTCCCCGTGCCCCCTCCTGCCATCCTGCCTTTCCTGGGGGACCTGCCTTCCTTCACCTGTCCTCAAAGGTGAAGTGACTTGGCCAGGATTGCACAAACCAGACGTGACCCAAGTCTGTCCCTCAAAGTGGCCCGCAGGGGTTCCTGCCCTGGCAGGTGGGGGTCTGCAGCCCCAGGCCCACATGTGGGTTGTGAGCTCCAGGCATGTCACCTACAGGCTCAGAGACCCCCGCCGCCTGCCTCGGGTCCCTTCCTGGTGAGGGAGGAGCTCCCAGGTCTCAGTTCTGCAAGAGTCCTGGCCGGCTGCTGGCCATGCCTGATGGAGTCCGCCAGCGGCCCCCCAGCCCCAGCCCCTCTGCCTCTCAGGAGCCTGTGGAACATGAGACCTGAAGAAGCAGGGCCAGTGTCACCAAGGTCACCGTGGGGCTGGGCCTGGTTCCAACTGGAGCTGAATGAGACAGGGTCAGTGCCACCAAGGTCACTGTGGGGCTGGGACTGGTTCCGACTGGAGCCGAATGAGACAGGGTCAGTGCCACCAAGGTCACTGTGGGGCTGGGACTGGTTCCGACTGGACTGGAGCCGAACGAGTGATGGGGACGGTGGTGCCTGGTGGCCCTGGGCCCCTCCAGGGCTGAGAGCCGAGCACCAGGATCTCCCAATCCCCTCAAAGGAGCCTCACGCAGCAACCTGACCGCGGGCCACCCCTGGGGACCTGCAACTGCAAGCCTTGCCCCATGAGGCATCCAGCGGGAGATGGCCCGGGCCGTGTGGCATGCTGGTGGGCCTGCCCGGTGTGGAGCAGTGGTGCCCCCAGGGAGCAGGCCGTCTGCTGCCCAGCTTGATGTGGGGTCAGGTGAGGAGGGGAGGGAAAGGGGAGGCTGCTGGGGGTGAGGGGACCGGCCTCTGGCCTCCTTGCAATGCCAAGGGCATCCCGCATGGCTCATCCACCCTGCTGGGCCCACAACACTGGAGGTGAGATCCTCCTTCCGCACCACCCTCGCCTCTGCGGAGACCCCGCAGCCGGAGCTCTGGAGCCGGTCCCCGCTGCACCCCAGCGGCCTCACCTCGGCTCTCATCCACATAGATGAGGTAGCGGTCCATCCCGTCCTGCTGCTCCAGCGTGTAGGCCACCCAGCAGCCCTCTGAGTCCCTCTCCTTGCAGGTCCTGCCCTTCACGGGGTTGTTCGACAGCTGCAGGCCCGGACACGCCGCGCTGCAGTTCTTCCCAAAGGGGCCCTTTTCGAACTTCAGGCACTCGGCGCAGGAGCTGCGGGGAGCCAGGTGTGAGCATCGGTGCCAGGGTGTGCGGGGGCTCCGGCAACGGGGGCTCGGGCTTGGGTGTGTGTCCACCAGGGGGGGCAGGTGGGGTTGGGGCGCCCTCAGGCCAAGGAGGGGGCCCAAGTGGGGCAGATGCGGGTGCAGCGGGTGAACTGGAAGCCTGATCCCAGGGCCCGCGGCAGGTGCGCACAGGAGGGAGGAGGGACACAGGGGCACGGCGGCCGCGGAGGGCCCCTCAGTCCAGACGCACCCGCAGAGAACCCCGCGGTGCAGAGGTGCTCACTGGGGTCCCCGAGTGAGCCCGGCTGCTGGGTAGGTGGCCGGGGAGTGGGGATCCCTGCCCGCCCTGCCTGCTCCGCCTGCACTCACATGTACTTGCCACAGGGTGAGGGGCAGCCGGGGCACTCCTGGCACAGAGGCAGCTGGTAGCCTGAATGGCACTCGCATACGTTGCAGCGGCACCGGCCACAACCACTACACTCAACACGCCGCGGGTTCAGGCAGCCCTCAGTGGTCCTCTCGCACTGGCACGCTGAGCCCTCAAAGCCCGGGTGGCAGCGGCACTTCCCGCAGAAGCAGAGCCCCCTCCCTGGAAGACGGGGCAGCACGGCTAAGCTCCTGCTTGGCCTGGGAACCGAGACCCGCCCGAAACCCCACTGCGGTTGCTCCCTCCGGCCCGCCTGCCTCCTCCAGCCTGGGGGATGTTCCTGAGCAAAAGGCATGGGGCCACTAGCCAGGCCCTTCTGCCCCCGCCAGCCACGTGGCCGCCTCCTGGCCAGTCTGGACCTCCCCTGCCCTGCTGTGAATGGGACCTCAATAGGGCTATGACCGTTCCTCCTGTGGGCCCTCCCCACAAGGACGCCTTGTCCTCATGGACACAGAAACTGAGGCAGGGCGGGGTGCAGGGCCATCCAAGTTCCTGCTGACGCCCGGTGGCTGGGCGAGACTTGCACTGTCTGTCCTCAGGATCCCCCCTTTCTGTTCCACTCGTTGAATGGTCCAGAACGCACCCCCCAACACCAAGTCTGTGCCGCAGGACGGCCGTTGTCCAGCAGGGACCCACGGGCTCACCCGGGCCGCCGCAGACCTGGCCGTTGTAGCGCTCACAGTTGATGGTGTCACACTCGCAGTACTGCCCGTATATCAGCTTGCCGGGGACGTCGCTGGTGTGGCACAGGCACTGCCCGCAGACACAGTCCCCCAGCCCTGAGCAGATGATGGAGTTGTTGTCCTTCCGGCAGCTTCCTTCCAGCTCCTGGCTGCTCCGGCCCTGTGTCTGGCACTCACAGTTTTTCCCAATGTAGCCAGTGTCACACCTGGGGACAGGAGGGGCCCCAAGGTCAGGCTCCCCCCAGTGATGTGGGACAAGGGACAGCCGCCCTGTCCTCCAGGCCCCTTGCCCTTGGTGGAGAACACCCCTATGGCACATTTTGCTTTCCTCGAGGCCTACTGAGCACTTGCCACGGACTAAATGTGCTCAAAACGTGCAGGGGCCCCGCGTTCCCTCCCCAGGATGTCCCGAGGGGAAAGCAGACACCTGGCCTTGGCCTGCGCATGCAGTGGCTCGGCAGGCTCACTGTGGAGCTGTGTTGCAGCCATGCACATGGCCTGTGCTGCGATACCGGTGCTCTGTGAGTGGCTGGTGTCTGCTCCTGCGTGCCCCACATGGTGGCCAGTGGGGACTCGGCACTGCCTCCTGCCACAGCCCCGCCCTCCCTCCTGCGTTCGTGCACTGACAGGCCAGGTTGTGGGAGAATGCAGGGACAAGGGGTTTTTACAGATGTGGAAGCTGGCATCAAGCCGCTGGCAGGCAGGAGCCACACACACCCTGAGGCATCCTCAGAGACGGCACTGCCACGGGCTCTCCTGCTCCCCAGAGGAGGAAGCTGCAGGACCGAGTGTCTGAGTACCTGTGGCAGGGCACCCCCCGACACCTGCCAAGTGTTCCGACTGAGTCACCCCTACAGTCCCGTGAAGAGGCCGCCCCAGGGCTGCACACCCAGGACAGTGGGCGGGGTGGCCACTGAGGCACGAGGACAGCAACAGAGACCACCAAGACCACAGAGACCATCATTGTCCTGAGATATGGGAGGAGGCTGGGGGCAGCAGGGACCTGAAGGTGAGGAAGGGCACTGCCACCAGGACGTGGATTGGCACTGCGGTCAGGACAGGGGAGGAGGTGACCAGAGCAAAGGGGGCAGAGTCCTGGGAGGTCAGCCTAGCAGCTCTGGCCAGGCAAGCAAGGAAAGGGGGACAGCCATCCAGCCCCCGGGCAGGCCGCCTGGCTGAGTGCCATGTGAACCTCCCCACTGGGTCCACCTGTCCCCCACTTCTCCCTGAGGTGGGGTGCCCACGCCTGGCAGGGGGTGTGCACGCCCAAGAGGTGGCCTATGGGGCCCAGGCTCCCAGAAGCCATCACCTGTCCCAGGAGGCTCTCTAGCCACCCATGCCCCAGGGCTGCCAGCCTGATGGCCTTGGGTCCCCAAGGTCAGAGAGAAGCCAGCTCCTAGGGTCAAG
Task1_train_28462
Gene ITGB2 (integrin subunit beta 2) on Chromosome 21 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; ITGB2-related disorder
GACCAGAGCTCAGCAGGTGAGGCCGGTGCCAGGATGAGCAACGCAAGGTCCTGGTTCCCACGGCAGCTGTGCCCACCTCCTGAGCATGGGGACTGTGGGCCATAGTGGGCCAGGCCCACAGCTGCTGACCCTGGGACAGACACTAGCGTTCAGTGCAGTCCCTGGCCTGGTCTGGCATCCTCACTCCCTGTACCCCTCCTGCCATCCTGACCTGCACCCTCACTCCCTGTGGTTGCTCCTGCCATCCTGATCTGCACCCTCACTCCCTGTGCCCCCTCCTGCCATCCTGACCTGCACTCTCACTCCCCGTGCCCCCTCCTGCCATCCTGCCTTTCCTGGGGGACCTGCCTTCCTTCACCTGTCCTCAAAGGTGAAGTGACTTGGCCAGGATTGCACAAACCAGACGTGACCCAAGTCTGTCCCTCAAAGTGGCCCGCAGGGGTTCCTGCCCTGGCAGGTGGGGGTCTGCAGCCCCAGGCCCACATGTGGGTTGTGAGCTCCAGGCATGTCACCTACAGGCTCAGAGACCCCCGCCGCCTGCCTCGGGTCCCTTCCTGGTGAGGGAGGAGCTCCCAGGTCTCAGTTCTGCAAGAGTCCTGGCCGGCTGCTGGCCATGCCTGATGGAGTCCGCCAGCGGCCCCCCAGCCCCAGCCCCTCTGCCTCTCAGGAGCCTGTGGAACATGAGACCTGAAGAAGCAGGGCCAGTGTCACCAAGGTCACCGTGGGGCTGGGCCTGGTTCCAACTGGAGCTGAATGAGACAGGGTCAGTGCCACCAAGGTCACTGTGGGGCTGGGACTGGTTCCGACTGGAGCCGAATGAGACAGGGTCAGTGCCACCAAGGTCACTGTGGGGCTGGGACTGGTTCCGACTGGACTGGAGCCGAACGAGTGATGGGGACGGTGGTGCCTGGTGGCCCTGGGCCCCTCCAGGGCTGAGAGCCGAGCACCAGGATCTCCCAATCCCCTCAAAGGAGCCTCACGCAGCAACCTGACCGCGGGCCACCCCTGGGGACCTGCAACTGCAAGCCTTGCCCCATGAGGCATCCAGCGGGAGATGGCCCGGGCCGTGTGGCATGCTGGTGGGCCTGCCCGGTGTGGAGCAGTGGTGCCCCCAGGGAGCAGGCCGTCTGCTGCCCAGCTTGATGTGGGGTCAGGTGAGGAGGGGAGGGAAAGGGGAGGCTGCTGGGGGTGAGGGGACCGGCCTCTGGCCTCCTTGCAATGCCAAGGGCATCCCGCATGGCTCATCCACCCTGCTGGGCCCACAACACTGGAGGTGAGATCCTCCTTCCGCACCACCCTCGCCTCTGCGGAGACCCCGCAGCCGGAGCTCTGGAGCCGGTCCCCGCTGCACCCCAGCGGCCTCACCTCGGCTCTCATCCACATAGATGAGGTAGCGGTCCATCCCGTCCTGCTGCTCCAGCGTGTAGGCCACCCAGCAGCCCTCTGAGTCCCTCTCCTTGCAGGTCCTGCCCTTCACGGGGTTGTTCGACAGCTGCAGGCCCGGACACGCCGCGCTGCAGTTCTTCCCAAAGGGGCCCTTTTCGAACTTCAGGCACTCGGCGCAGGAGCTGCGGGGAGCCAGGTGTGAGCATCGGTGCCAGGGTGTGCGGGGGCTCCGGCAACGGGGGCTCGGGCTTGGGTGTGTGTCCACCAGGGGGGGCAGGTGGGGTTGGGGCGCCCTCAGGCCAAGGAGGGGGCCCAAGTGGGGCAGATGCGGGTGCAGCGGGTGAACTGGAAGCCTGATCCCAGGGCCCGCGGCAGGTGCGCACAGGAGGGAGGAGGGACACAGGGGCACGGCGGCCGCGGAGGGCCCCTCAGTCCAGACGCACCCGCAGAGAACCCCGCGGTGCAGAGGTGCTCACTGGGGTCCCCGAGTGAGCCCGGCTGCTGGGTAGGTGGCCGGGGAGTGGGGATCCCTGCCCGCCCTGCCTGCTCCGCCTGCACTCACATGTACTTGCCACAGGGTGAGGGGCAGCCGGGGCACTCCTGGCACAGAGGCAGCTGGTAGCCTGAATGGCACTCGCATACGTTGCAGCGGCACCGGCCACGACCACTACACTCAACACGCCGCGGGTTCAGGCAGCCCTCAGTGGTCCTCTCGCACTGGCACGCTGAGCCCTCAAAGCCCGGGTGGCAGCGGCACTTCCCGCAGAAGCAGAGCCCCCTCCCTGGAAGACGGGGCAGCACGGCTAAGCTCCTGCTTGGCCTGGGAACCGAGACCCGCCCGAAACCCCACTGCGGTTGCTCCCTCCGGCCCGCCTGCCTCCTCCAGCCTGGGGGATGTTCCTGAGCAAAAGGCATGGGGCCACTAGCCAGGCCCTTCTGCCCCCGCCAGCCACGTGGCCGCCTCCTGGCCAGTCTGGACCTCCCCTGCCCTGCTGTGAATGGGACCTCAATAGGGCTATGACCGTTCCTCCTGTGGGCCCTCCCCACAAGGACGCCTTGTCCTCATGGACACAGAAACTGAGGCAGGGCGGGGTGCAGGGCCATCCAAGTTCCTGCTGACGCCCGGTGGCTGGGCGAGACTTGCACTGTCTGTCCTCAGGATCCCCCCTTTCTGTTCCACTCGTTGAATGGTCCAGAACGCACCCCCCAACACCAAGTCTGTGCCGCAGGACGGCCGTTGTCCAGCAGGGACCCACGGGCTCACCCGGGCCGCCGCAGACCTGGCCGTTGTAGCGCTCACAGTTGATGGTGTCACACTCGCAGTACTGCCCGTATATCAGCTTGCCGGGGACGTCGCTGGTGTGGCACAGGCACTGCCCGCAGACACAGTCCCCCAGCCCTGAGCAGATGATGGAGTTGTTGTCCTTCCGGCAGCTTCCTTCCAGCTCCTGGCTGCTCCGGCCCTGTGTCTGGCACTCACAGTTTTTCCCAATGTAGCCAGTGTCACACCTGGGGACAGGAGGGGCCCCAAGGTCAGGCTCCCCCCAGTGATGTGGGACAAGGGACAGCCGCCCTGTCCTCCAGGCCCCTTGCCCTTGGTGGAGAACACCCCTATGGCACATTTTGCTTTCCTCGAGGCCTACTGAGCACTTGCCACGGACTAAATGTGCTCAAAACGTGCAGGGGCCCCGCGTTCCCTCCCCAGGATGTCCCGAGGGGAAAGCAGACACCTGGCCTTGGCCTGCGCATGCAGTGGCTCGGCAGGCTCACTGTGGAGCTGTGTTGCAGCCATGCACATGGCCTGTGCTGCGATACCGGTGCTCTGTGAGTGGCTGGTGTCTGCTCCTGCGTGCCCCACATGGTGGCCAGTGGGGACTCGGCACTGCCTCCTGCCACAGCCCCGCCCTCCCTCCTGCGTTCGTGCACTGACAGGCCAGGTTGTGGGAGAATGCAGGGACAAGGGGTTTTTACAGATGTGGAAGCTGGCATCAAGCCGCTGGCAGGCAGGAGCCACACACACCCTGAGGCATCCTCAGAGACGGCACTGCCACGGGCTCTCCTGCTCCCCAGAGGAGGAAGCTGCAGGACCGAGTGTCTGAGTACCTGTGGCAGGGCACCCCCCGACACCTGCCAAGTGTTCCGACTGAGTCACCCCTACAGTCCCGTGAAGAGGCCGCCCCAGGGCTGCACACCCAGGACAGTGGGCGGGGTGGCCACTGAGGCACGAGGACAGCAACAGAGACCACCAAGACCACAGAGACCATCATTGTCCTGAGATATGGGAGGAGGCTGGGGGCAGCAGGGACCTGAAGGTGAGGAAGGGCACTGCCACCAGGACGTGGATTGGCACTGCGGTCAGGACAGGGGAGGAGGTGACCAGAGCAAAGGGGGCAGAGTCCTGGGAGGTCAGCCTAGCAGCTCTGGCCAGGCAAGCAAGGAAAGGGGGACAGCCATCCAGCCCCCGGGCAGGCCGCCTGGCTGAGTGCCATGTGAACCTCCCCACTGGGTCCACCTGTCCCCCACTTCTCCCTGAGGTGGGGTGCCCACGCCTGGCAGGGGGTGTGCACGCCCAAGAGGTGGCCTATGGGGCCCAGGCTCCCAGAAGCCATCACCTGTCCCAGGAGGCTCTCTAGCCACCCATGCCCCAGGGCTGCCAGCCTGATGGCCTTGGGTCCCCAAGGTCAGAGAGAAGCCAGCTCCTAGGGTCAAG
GACCAGAGCTCAGCAGGTGAGGCCGGTGCCAGGATGAGCAACGCAAGGTCCTGGTTCCCACGGCAGCTGTGCCCACCTCCTGAGCATGGGGACTGTGGGCCATAGTGGGCCAGGCCCACAGCTGCTGACCCTGGGACAGACACTAGCGTTCAGTGCAGTCCCTGGCCTGGTCTGGCATCCTCACTCCCTGTACCCCTCCTGCCATCCTGACCTGCACCCTCACTCCCTGTGGTTGCTCCTGCCATCCTGATCTGCACCCTCACTCCCTGTGCCCCCTCCTGCCATCCTGACCTGCACTCTCACTCCCCGTGCCCCCTCCTGCCATCCTGCCTTTCCTGGGGGACCTGCCTTCCTTCACCTGTCCTCAAAGGTGAAGTGACTTGGCCAGGATTGCACAAACCAGACGTGACCCAAGTCTGTCCCTCAAAGTGGCCCGCAGGGGTTCCTGCCCTGGCAGGTGGGGGTCTGCAGCCCCAGGCCCACATGTGGGTTGTGAGCTCCAGGCATGTCACCTACAGGCTCAGAGACCCCCGCCGCCTGCCTCGGGTCCCTTCCTGGTGAGGGAGGAGCTCCCAGGTCTCAGTTCTGCAAGAGTCCTGGCCGGCTGCTGGCCATGCCTGATGGAGTCCGCCAGCGGCCCCCCAGCCCCAGCCCCTCTGCCTCTCAGGAGCCTGTGGAACATGAGACCTGAAGAAGCAGGGCCAGTGTCACCAAGGTCACCGTGGGGCTGGGCCTGGTTCCAACTGGAGCTGAATGAGACAGGGTCAGTGCCACCAAGGTCACTGTGGGGCTGGGACTGGTTCCGACTGGAGCCGAATGAGACAGGGTCAGTGCCACCAAGGTCACTGTGGGGCTGGGACTGGTTCCGACTGGACTGGAGCCGAACGAGTGATGGGGACGGTGGTGCCTGGTGGCCCTGGGCCCCTCCAGGGCTGAGAGCCGAGCACCAGGATCTCCCAATCCCCTCAAAGGAGCCTCACGCAGCAACCTGACCGCGGGCCACCCCTGGGGACCTGCAACTGCAAGCCTTGCCCCATGAGGCATCCAGCGGGAGATGGCCCGGGCCGTGTGGCATGCTGGTGGGCCTGCCCGGTGTGGAGCAGTGGTGCCCCCAGGGAGCAGGCCGTCTGCTGCCCAGCTTGATGTGGGGTCAGGTGAGGAGGGGAGGGAAAGGGGAGGCTGCTGGGGGTGAGGGGACCGGCCTCTGGCCTCCTTGCAATGCCAAGGGCATCCCGCATGGCTCATCCACCCTGCTGGGCCCACAACACTGGAGGTGAGATCCTCCTTCCGCACCACCCTCGCCTCTGCGGAGACCCCGCAGCCGGAGCTCTGGAGCCGGTCCCCGCTGCACCCCAGCGGCCTCACCTCGGCTCTCATCCACATAGATGAGGTAGCGGTCCATCCCGTCCTGCTGCTCCAGCGTGTAGGCCACCCAGCAGCCCTCTGAGTCCCTCTCCTTGCAGGTCCTGCCCTTCACGGGGTTGTTCGACAGCTGCAGGCCCGGACACGCCGCGCTGCAGTTCTTCCCAAAGGGGCCCTTTTCGAACTTCAGGCACTCGGCGCAGGAGCTGCGGGGAGCCAGGTGTGAGCATCGGTGCCAGGGTGTGCGGGGGCTCCGGCAACGGGGGCTCGGGCTTGGGTGTGTGTCCACCAGGGGGGGCAGGTGGGGTTGGGGCGCCCTCAGGCCAAGGAGGGGGCCCAAGTGGGGCAGATGCGGGTGCAGCGGGTGAACTGGAAGCCTGATCCCAGGGCCCGCGGCAGGTGCGCACAGGAGGGAGGAGGGACACAGGGGCACGGCGGCCGCGGAGGGCCCCTCAGTCCAGACGCACCCGCAGAGAACCCCGCGGTGCAGAGGTGCTCACTGGGGTCCCCGAGTGAGCCCGGCTGCTGGGTAGGTGGCCGGGGAGTGGGGATCCCTGCCCGCCCTGCCTGCTCCGCCTGCACTCACATGTACTTGCCACAGGGTGAGGGGCAGCCGGGGCACTCCTGGCACAGAGGCAGCTGGTAGCCTGAATGGCACTCGCATACGTTGCAGCGGCACCGGCCACAACCACTACACTCAACACGCCGCGGGTTCAGGCAGCCCTCAGTGGTCCTCTCGCACTGGCACGCTGAGCCCTCAAAGCCCGGGTGGCAGCGGCACTTCCCGCAGAAGCAGAGCCCCCTCCCTGGAAGACGGGGCAGCACGGCTAAGCTCCTGCTTGGCCTGGGAACCGAGACCCGCCCGAAACCCCACTGCGGTTGCTCCCTCCGGCCCGCCTGCCTCCTCCAGCCTGGGGGATGTTCCTGAGCAAAAGGCATGGGGCCACTAGCCAGGCCCTTCTGCCCCCGCCAGCCACGTGGCCGCCTCCTGGCCAGTCTGGACCTCCCCTGCCCTGCTGTGAATGGGACCTCAATAGGGCTATGACCGTTCCTCCTGTGGGCCCTCCCCACAAGGACGCCTTGTCCTCATGGACACAGAAACTGAGGCAGGGCGGGGTGCAGGGCCATCCAAGTTCCTGCTGACGCCCGGTGGCTGGGCGAGACTTGCACTGTCTGTCCTCAGGATCCCCCCTTTCTGTTCCACTCGTTGAATGGTCCAGAACGCACCCCCCAACACCAAGTCTGTGCCGCAGGACGGCCGTTGTCCAGCAGGGACCCACGGGCTCACCCGGGCCGCCGCAGACCTGGCCGTTGTAGCGCTCACAGTTGATGGTGTCACACTCGCAGTACTGCCCGTATATCAGCTTGCCGGGGACGTCGCTGGTGTGGCACAGGCACTGCCCGCAGACACAGTCCCCCAGCCCTGAGCAGATGATGGAGTTGTTGTCCTTCCGGCAGCTTCCTTCCAGCTCCTGGCTGCTCCGGCCCTGTGTCTGGCACTCACAGTTTTTCCCAATGTAGCCAGTGTCACACCTGGGGACAGGAGGGGCCCCAAGGTCAGGCTCCCCCCAGTGATGTGGGACAAGGGACAGCCGCCCTGTCCTCCAGGCCCCTTGCCCTTGGTGGAGAACACCCCTATGGCACATTTTGCTTTCCTCGAGGCCTACTGAGCACTTGCCACGGACTAAATGTGCTCAAAACGTGCAGGGGCCCCGCGTTCCCTCCCCAGGATGTCCCGAGGGGAAAGCAGACACCTGGCCTTGGCCTGCGCATGCAGTGGCTCGGCAGGCTCACTGTGGAGCTGTGTTGCAGCCATGCACATGGCCTGTGCTGCGATACCGGTGCTCTGTGAGTGGCTGGTGTCTGCTCCTGCGTGCCCCACATGGTGGCCAGTGGGGACTCGGCACTGCCTCCTGCCACAGCCCCGCCCTCCCTCCTGCGTTCGTGCACTGACAGGCCAGGTTGTGGGAGAATGCAGGGACAAGGGGTTTTTACAGATGTGGAAGCTGGCATCAAGCCGCTGGCAGGCAGGAGCCACACACACCCTGAGGCATCCTCAGAGACGGCACTGCCACGGGCTCTCCTGCTCCCCAGAGGAGGAAGCTGCAGGACCGAGTGTCTGAGTACCTGTGGCAGGGCACCCCCCGACACCTGCCAAGTGTTCCGACTGAGTCACCCCTACAGTCCCGTGAAGAGGCCGCCCCAGGGCTGCACACCCAGGACAGTGGGCGGGGTGGCCACTGAGGCACGAGGACAGCAACAGAGACCACCAAGACCACAGAGACCATCATTGTCCTGAGATATGGGAGGAGGCTGGGGGCAGCAGGGACCTGAAGGTGAGGAAGGGCACTGCCACCAGGACGTGGATTGGCACTGCGGTCAGGACAGGGGAGGAGGTGACCAGAGCAAAGGGGGCAGAGTCCTGGGAGGTCAGCCTAGCAGCTCTGGCCAGGCAAGCAAGGAAAGGGGGACAGCCATCCAGCCCCCGGGCAGGCCGCCTGGCTGAGTGCCATGTGAACCTCCCCACTGGGTCCACCTGTCCCCCACTTCTCCCTGAGGTGGGGTGCCCACGCCTGGCAGGGGGTGTGCACGCCCAAGAGGTGGCCTATGGGGCCCAGGCTCCCAGAAGCCATCACCTGTCCCAGGAGGCTCTCTAGCCACCCATGCCCCAGGGCTGCCAGCCTGATGGCCTTGGGTCCCCAAGGTCAGAGAGAAGCCAGCTCCTAGGGTCAAG
Task1_train_28463
The gene ITGB2 (integrin subunit beta 2) is located on Chromosome 21, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Leukocyte adhesion deficiency 1
GTCTGCCCCCAGGGGGCGCAGCCATCACTCCATCCCTCAGTCTGCAGTGGCCTGACCCAGGGATTTGGGCTCCAGGTTGATGAGTAGGACTCTTGGGGGCCAAGGCGTGTGTGAAGAACCCTCCCAGCACCCTCTCACTGAGAAGCACCCTCTCGGCACCCTCTCACTGACGTTCCTGACATCAGCTTCACAAGGAAAGCGTCTGGCCTCGGCAGAGAGGATGTGAAGGAAAGAAACAGGGTCCTTCCAGTGGATGCTGCCTGCTCCCAGACAGCCTCTGATGCCTGTGTGCCCCTCCCTGCCCCCGTCAGAGTGCTGGGATGGGGACCCTGGCTCCTTCTGGCTGTCCCCAGGACCCCTCAGTGTGCTGGGATGGGGACCCTGGCTCCTTCTGGCTGTCCCCAGAGCCCCTCAGCAAGCTGGGATGGGGACCCTTGTGGCCAGGCTCACCGGGACATTGATCTGCACGCCATCACAGTCACCTCTGGGCTGGTTCCTGTGCGTCACTCCATTGCTGCAGAAGGAGTCGTAGGTGACTTTCAGGGTGTCGGGGAGGGCGTTGTGATCCAGGAAGACCCTGGAGGAGAGTTTCTGCGGGCAGAGAGCGGTTACTCTTGGGGGCGAGTGTTTCTGTTGTCCTGGCCCTGCCTGGCCCAGCGGTTTAGACCCGTCTCCACTTCTCCTCTCAGTGCAAGTCCCCAGTGTCAGCTAATGACACAGAGGAGAGCACAGCAGGATGTGCTGAGGATGGCAGGGCTGCCAGGGCCACAGTCCTGCCCTCGAGACAGCCTGACCACAGGGACTAGCATGGAGCCAGGGTGTGAGCCTCAGGGGTGGGAGCTTCTGCTGCTCCTCAGCCTTGAGTCCCCAGGACCTAGCACAGGGCAGGAGCTGCATAAATTGTTCAAGCGATAAGAGAGATGGGGAGAAACAGAGAGAGGCAGAGACAGACAGAGATGGGCAGAGCCAGAGCCAGAGACAGAGAGATGGAGAGAAACAGAGAGAGGCAGAGACAGAGACAGACAGAGATGGGGCAGAGACAGAGAGAGACAGACAGAGAGAGACAGAGAAAGAGAGACAAAGACTGAGAGACAGACGGAAATTGAGAGGAGGCAGAGGGACAGGTTCATAGGGGCATCGGGTGAATGGCCAGGGCAGTGGCGTCACCTGCATCCTCTGTGTAAGGACAGAAACACCTCGGGCAGTGGCTGGCACCCAGGAGGGTCTGCTCTGGGGGTTTGGGGCTCACGGGAGGCTACGAGAAGCAAATGGCACCTCCTCCACGGGCCTTCAGTTTAATTCAATGACCCAACGTTTGTCGGAGGCGCTAACGTGCTGAGCTCCCTCAAGCCAGCAGGACCTTTGGCCTAGAAGGATCCAGGCCAGAATTCTGAGAACATCTCTCACCTGGGGGTAGATTTCCAGAGCAGTCGGGACCTCTGGTGCCTGGGGCCCTGAATGGCACCTAGTGCGCACCTATGCCTACCTATGCCCACCAGGGCCATGGGCTCCCCAGGGGAGCAGCCCAGGGTGCAGCTCGATGGGCCGTGCACCAGGGAGAAATTCAGGGGTTAAGGGCTTCTCTGGAGCTTGCCCAGGACAGGTGAACAGAGCAAGAGGAATTCCACCCCCCAGGGTGTCTTCCCAGGGCCCAAGTCCACTGTGGGGGTTTCCTGTGGCCTCCTCCTGCCCCAGCTGCACTGTTTGCCACCAGAGCTGTCCACCTCCCTTCTCCATAGAGACCCGCAGAGAAGAGTCTGGAATGAAGAGTCCGGAGCTCAGGTTTCAGGGAGCATCGCCCACAACATCAACGAGAGAGGACCCAGAGCTCCCCGTGGAAGTGCCGGGCCAGGGTGTCCTGGAGGCCTGAGGGCAGGTCGGGAGGCTGCAGCTGGCCCACGGGGCAGGGGCTTTCCTCCCAGACCACCCTCCTGCTGACCTGCAGCAGGAGCTGACCTGCAGTGGGGAGATTGCTGGCCACCCCATGGGTCCCAGCTGAGTGGTGCGGGAGACTCACATTGTAAGCATTCTTAATGAGATGGACCACATTGCTGGAGTCCTCAGACAGCTCCCCCACGGCTGACTTGGGGATGATCTCGGTGAGTTTCTGTTGGGCAAGAAGACCAGACATGGCACGGCTAGGACCTGTGCCACGGCATCTCCACGCACTGGGCTCACCCCAGGGGCTTCTGCACCTGCAAAATGGCTGGGACGGTCCTCAACGCAGTTTTGCACTTGGTCCCCAGAGTGTGTGGTCAGTGATGTGTGGTAAGAGGTTCTTGGGGGTAAAAAGCCCTGAGCTGCCCAGGGGCCACGCCTGGAATACCAGTACTCGGGAGGCCGATGTGGGAAGATTGCCTGAGCCCAGGAGTTCAGGACCAGCCTGGGCAACATAAGAAGACCCCATCTCTACAAAAAGTACAAATATTAGAGTGGTGTGGCGTCACATGCCTGTAGTACCAGATACTCGGGAGGCTGAGGCAGGAGGATCACTTAAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCTTGTCTCAAAAAAACAAAACAAAACAAAAAAAACCCAGGCCAGGCATGATGGCTCACGCCTGTGATCCCAGCACTTTGGGAGGCCAAAGTGGGTGGATCACTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGGGCACCTGTAAGCCCAGCTACTCAGGAGACTGAGGCAGGAGAACCCAGGAGGCGGAGGTCGCAATGAGCTGAGATCACACCATGGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAATAAAATAAAATGAAATGAAATGAAATGAAATGAAATGAAATAAAAAAATAAATAAAATAAAATAAAATAAATAAAAAATAAAAAAAAAATTACTGTTGCATCATGAGGATAAGAAAAGAAAGCAAAGCCCTGAGCTGCAGCATTGTCCAGGCCTGCCCGTGTGAGTCCTCCTGCCTGCGGTGTGAGTGATCCCGCCTGCGGTGTGAGTGCTCCCGCCTGCGGTGTGAGTGATCCCGCCTGCAGTGTGAGTGATCCTGCCTGCGGTGTGACTGCTCCCGCCTGTGGTGTGAGTACTCCTGCCTGTGGTGTGAGTGATCCTGCCTGGTGGATTTCAAGCTCGCAATATCACTGGGTTGGGAGGACGTGCATGGTGGCCAGTGTTGGCCAGAATTTCCACCACACAGGTAGGGAATTCCTACCACCACACAGATGGTAGGCGGAAGTAGCCCCACGAGGGTGGATCACAGTAAAATCACCAGGAAGCCATCGGCTCTTGGCACTCTACTGAGTTTCCATGGGTGTTAAACAGCCCGGTGACATCGGTTCTGGCCGGCCAGATGCACAGGGGCGCAGCCAGCCTCCCCCATGCTCACACATGCTCAGCTTCTTTCATGGAAGATTGCGGCATCATTTCACCTTCCAGGAACACGGAGCAGATGGTCGGGTCACCTCCCCGCCCAAACCCTCCCATGACTGCCCTGCATGGGCCCAGTCCCTTCCATGGAGCTCCTGGGGCCGGTCACAGCCTGGCCACCACCCTCCTCTGCGCCCTCCGCCCACCGCCCACTTCCATCCGTCCCAGTCTGGGGCCATCCCTGTCTTGGGAGAGCTGGGCCCTCCCACATCCTGTCCTGCTGAGCCTGCTGTGCGCTTGGTGCAGAAACACACTCGGAGGGGGCGTGGCACGTGTGTCCACACTCGCTGCCTGTTGCCTTGACCACCCCCGAAGGTGACCAGGAAAGGCTGAGGAAGGCTTGTGTGCCCCAAGGCTCAGCAGTAGGCATGGGGTGCACTCTACCTGCCTCCAGTGCCTGGCCCTGGTGCCACACCATCGCCTGGAGTCTGGCTGCCATGACAAATGGCAAAGGATTGGGACCTGCTACTGCTGGTGAGGAGGGGACCGTCATGGCCACCTACAGATGGGACACAGGGCTGTGACATCCTGACCAGCAGGTGGTCTCTGTGGATGTCCGGCCCCAGCCCTGCCCTGCGCTG
GTCTGCCCCCAGGGGGCGCAGCCATCACTCCATCCCTCAGTCTGCAGTGGCCTGACCCAGGGATTTGGGCTCCAGGTTGATGAGTAGGACTCTTGGGGGCCAAGGCGTGTGTGAAGAACCCTCCCAGCACCCTCTCACTGAGAAGCACCCTCTCGGCACCCTCTCACTGACGTTCCTGACATCAGCTTCACAAGGAAAGCGTCTGGCCTCGGCAGAGAGGATGTGAAGGAAAGAAACAGGGTCCTTCCAGTGGATGCTGCCTGCTCCCAGACAGCCTCTGATGCCTGTGTGCCCCTCCCTGCCCCCGTCAGAGTGCTGGGATGGGGACCCTGGCTCCTTCTGGCTGTCCCCAGGACCCCTCAGTGTGCTGGGATGGGGACCCTGGCTCCTTCTGGCTGTCCCCAGAGCCCCTCAGCAAGCTGGGATGGGGACCCTTGTGGCCAGGCTCACCGGGACATTGATCTGCACGCCATCACAGTCACCTCTGGGCTGGTTCCTGTGCGTCACTCCATTGCTGCAGAAGGAGTCGTAGGTGACTTTCAGGGTGTCGGGGAGGGCGTTGTGATCCAGGAAGACCCTGGAGGAGAGTTTCTGCGGGCAGAGAGCGGTTACTCTTGGGGGCGAGTGTTTCTGTTGTCCTGGCCCTGCCTGGCCCAGCGGTTTAGACCCGTCTCCACTTCTCCTCTCAGTGCAAGTCCCCAGTGTCAGCTAATGACACAGAGGAGAGCACAGCAGGATGTGCTGAGGATGGCAGGGCTGCCAGGGCCACAGTCCTGCCCTCGAGACAGCCTGACCACAGGGACTAGCATGGAGCCAGGGTGTGAGCCTCAGGGGTGGGAGCTTCTGCTGCTCCTCAGCCTTGAGTCCCCAGGACCTAGCACAGGGCAGGAGCTGCATAAATTGTTCAAGCGATAAGAGAGATGGGGAGAAACAGAGAGAGGCAGAGACAGACAGAGATGGGCAGAGCCAGAGCCAGAGACAGAGAGATGGAGAGAAACAGAGAGAGGCAGAGACAGAGACAGACAGAGATGGGGCAGAGACAGAGAGAGACAGACAGAGAGAGACAGAGAAAGAGAGACAAAGACTGAGAGACAGACGGAAATTGAGAGGAGGCAGAGGGACAGGTTCATAGGGGCATCGGGTGAATGGCCAGGGCAGTGGCGTCACCTGCATCCTCTGTGTAAGGACAGAAACACCTCGGGCAGTGGCTGGCACCCAGGAGGGTCTGCTCTGGGGGTTTGGGGCTCACGGGAGGCTACGAGAAGCAAATGGCACCTCCTCCACGGGCCTTCAGTTTAATTCAATGACCCAACGTTTGTCGGAGGCGCTAACGTGCTGAGCTCCCTCAAGCCAGCAGGACCTTTGGCCTAGAAGGATCCAGGCCAGAATTCTGAGAACATCTCTCACCTGGGGGTAGATTTCCAGAGCAGTCGGGACCTCTGGTGCCTGGGGCCCTGAATGGCACCTAGTGCGCACCTATGCCTACCTATGCCCACCAGGGCCATGGGCTCCCCAGGGGAGCAGCCCAGGGTGCAGCTCGATGGGCCGTGCACCAGGGAGAAATTCAGGGGTTAAGGGCTTCTCTGGAGCTTGCCCAGGACAGGTGAACAGAGCAAGAGGAATTCCACCCCCCAGGGTGTCTTCCCAGGGCCCAAGTCCACTGTGGGGGTTTCCTGTGGCCTCCTCCTGCCCCAGCTGCACTGTTTGCCACCAGAGCTGTCCACCTCCCTTCTCCATAGAGACCCGCAGAGAAGAGTCTGGAATGAAGAGTCCGGAGCTCAGGTTTCAGGGAGCATCGCCCACAACATCAACGAGAGAGGACCCAGAGCTCCCCGTGGAAGTGCCGGGCCAGGGTGTCCTGGAGGCCTGAGGGCAGGTCGGGAGGCTGCAGCTGGCCCACGGGGCAGGGGCTTTCCTCCCAGACCACCCTCCTGCTGACCTGCAGCAGGAGCTGACCTGCAGTGGGGAGATTGCTGGCCACCCCATGGGTCCCAGCTGAGTGGTGCGGGAGACTCACATTGTAAGCATTCTTAATGAGATGGACCACACTGCTGGAGTCCTCAGACAGCTCCCCCACGGCTGACTTGGGGATGATCTCGGTGAGTTTCTGTTGGGCAAGAAGACCAGACATGGCACGGCTAGGACCTGTGCCACGGCATCTCCACGCACTGGGCTCACCCCAGGGGCTTCTGCACCTGCAAAATGGCTGGGACGGTCCTCAACGCAGTTTTGCACTTGGTCCCCAGAGTGTGTGGTCAGTGATGTGTGGTAAGAGGTTCTTGGGGGTAAAAAGCCCTGAGCTGCCCAGGGGCCACGCCTGGAATACCAGTACTCGGGAGGCCGATGTGGGAAGATTGCCTGAGCCCAGGAGTTCAGGACCAGCCTGGGCAACATAAGAAGACCCCATCTCTACAAAAAGTACAAATATTAGAGTGGTGTGGCGTCACATGCCTGTAGTACCAGATACTCGGGAGGCTGAGGCAGGAGGATCACTTAAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCTTGTCTCAAAAAAACAAAACAAAACAAAAAAAACCCAGGCCAGGCATGATGGCTCACGCCTGTGATCCCAGCACTTTGGGAGGCCAAAGTGGGTGGATCACTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGGGCACCTGTAAGCCCAGCTACTCAGGAGACTGAGGCAGGAGAACCCAGGAGGCGGAGGTCGCAATGAGCTGAGATCACACCATGGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAATAAAATAAAATGAAATGAAATGAAATGAAATGAAATGAAATAAAAAAATAAATAAAATAAAATAAAATAAATAAAAAATAAAAAAAAAATTACTGTTGCATCATGAGGATAAGAAAAGAAAGCAAAGCCCTGAGCTGCAGCATTGTCCAGGCCTGCCCGTGTGAGTCCTCCTGCCTGCGGTGTGAGTGATCCCGCCTGCGGTGTGAGTGCTCCCGCCTGCGGTGTGAGTGATCCCGCCTGCAGTGTGAGTGATCCTGCCTGCGGTGTGACTGCTCCCGCCTGTGGTGTGAGTACTCCTGCCTGTGGTGTGAGTGATCCTGCCTGGTGGATTTCAAGCTCGCAATATCACTGGGTTGGGAGGACGTGCATGGTGGCCAGTGTTGGCCAGAATTTCCACCACACAGGTAGGGAATTCCTACCACCACACAGATGGTAGGCGGAAGTAGCCCCACGAGGGTGGATCACAGTAAAATCACCAGGAAGCCATCGGCTCTTGGCACTCTACTGAGTTTCCATGGGTGTTAAACAGCCCGGTGACATCGGTTCTGGCCGGCCAGATGCACAGGGGCGCAGCCAGCCTCCCCCATGCTCACACATGCTCAGCTTCTTTCATGGAAGATTGCGGCATCATTTCACCTTCCAGGAACACGGAGCAGATGGTCGGGTCACCTCCCCGCCCAAACCCTCCCATGACTGCCCTGCATGGGCCCAGTCCCTTCCATGGAGCTCCTGGGGCCGGTCACAGCCTGGCCACCACCCTCCTCTGCGCCCTCCGCCCACCGCCCACTTCCATCCGTCCCAGTCTGGGGCCATCCCTGTCTTGGGAGAGCTGGGCCCTCCCACATCCTGTCCTGCTGAGCCTGCTGTGCGCTTGGTGCAGAAACACACTCGGAGGGGGCGTGGCACGTGTGTCCACACTCGCTGCCTGTTGCCTTGACCACCCCCGAAGGTGACCAGGAAAGGCTGAGGAAGGCTTGTGTGCCCCAAGGCTCAGCAGTAGGCATGGGGTGCACTCTACCTGCCTCCAGTGCCTGGCCCTGGTGCCACACCATCGCCTGGAGTCTGGCTGCCATGACAAATGGCAAAGGATTGGGACCTGCTACTGCTGGTGAGGAGGGGACCGTCATGGCCACCTACAGATGGGACACAGGGCTGTGACATCCTGACCAGCAGGTGGTCTCTGTGGATGTCCGGCCCCAGCCCTGCCCTGCGCTG
Task1_train_28464
This variant impacts the gene ITGB2 (integrin subunit beta 2) on Chromosome 21. Is the change likely to result in a pathogenic outcome?
Pathogenic; Leukocyte adhesion deficiency 1
CTCCCGGCGGAGGACCTGAGTCTTGTATCTCTAAAGTCCTTTGCGGCCCCCAGAGCCTACAACGTCAGGCTGCAAGAGCGTCGCACTACGGCCAGCGAGGACAAGCCCCTTGTGACCAGTGGTTGCCTCTCGGCCCACGGCTGATCCCAGCCAGAAGTCCTGGCCCCTCTGAGCCATTGAGATGCCTCCGCAGAGAGGCTCATCCTAACCCGTGCATCCTGGGCTCCTTCTCGCCTCTGTCCCTCCCTGCATGTTCCTCATGGTCCCCGCAGCCGCTCACCCAGCTCAGGCAATGGGGGCAGGGAGGGGCCACACTGGAGGAGGCGGACTCAGGGGCAGCAGGGAACGTACAGTGGAGGCCGGGAGGGGGAGGAGGCGGATGCTTGGGGATGGGACCCTGGCCAGAGGCGGGGACGGCAGGGTGCAGCCGTAGCCTGGGGGCGGTTACTATACCTCCACAGCAGCTGTCAGCCCAGGTAGGGGGGCAGTGGGGCTGGAGACCAACAGAGCCTGGGTGTCCCACAAGGGCGAGGCCGGGCCTCAGCCTGGCTGCCCCCACCAACCCTACCCTCCCCTGGCCTGAGGCCAGTCCGGGGAGACCCCACGCTGCCACTTGGGGCTTCCAGAAGTTTCCTCAGGAATCTGCTCCTTGGGTCAGAAGGAGGCTCTGTCAGGTGGAGACCCCACCCTTGTCTCCTCCGTCAGTGGTGTCCTGCCAGGCGGTGCCTGGGTGCCTGGGGTGGGGACTTACGAATTCGTTGCTCCTCTTGTACAAGTTGTCCTCCAGGTGACAGCGGCCGTCGTTGGGGGTCAGGATGGCGCCCAGCTTCCCGTCGCCCGCGAAATGGAAGCCGTCATCAGTGGCAAACACCAGCAGCCGCGTGACGTTGCGCCAGCCGATTTCCTCCTGAGAAGAAGGCGTGGGGGGCAGGGTTACCTGCCTCAGTTTCCCAGACCCGGCCCTCTGGAGCAGAGGAGACGATGCAGAGCTGGTGGGGTGGCCCGGAGGCTGGTGTGGGTCCCCCTTTCCCCTGGGTCTCAGGGACCCAGCTGTGTTCCCCCAGACGCCACGCCCAGGAGGAGACAACGGCCCTCAAACACCCCGTGCACATGTGAGGCGCAGGGAGTGGAGGCACGTGTGGAAAGGCAAGGAGAGAGACACGGCTGCGGTCCCTGCACTTCAGAGCTGGGAACAAACCCTCAGGAAACCATCCCCAAGGGGAAAAACCCTCGCAGACGTGTGGGCCACACGCAGAACGAGTGCAACATGGAGGAAAACGAGCCTGAGGGGCCCAGCAGGCCTTGAGTCCACCATTGACAGCCCCTGGCAGGCGCATGTGGGGGCCGTGCGTGTCCTAGGCTGTGACCTCACACTCGTGAGCAGTGTGTCTGCGCTGGGACTGCAGGGAAGCAGGAGAGCTAAGGTGGGTTGTGAGGGGAGGACAGTGCATGTGGCCTCAACATGGCCCAGGGACTGTGGCTGCTCTGTTAGGCTGACAGTCACAAACTGGGTGGGCGGGACGTGGAGAGCGACACACACTGGGCAGCCAGCGCCCACCCGGCCTGGAGGGAGGAGGGTGGTTCCACCCCAGGAACCACGGGACCTGCTGCCTAGCGGCCCTGTTCCACCCTTGGCCGCTCGCAAAATGTTTAGGCTTCATAAGGTTTGCCCAGGGTCACAAATTTAACTCACAGCAAACAATGAAATCAGCGCATGATTTTCGAGCCCTCGTGGTCACCCTCCCTTCCTCCTGCCCTTTCCTGCATGGGCAGCAGCAGGGTGAGGAGCTGCTCTCCCCAGGCCCAGGCTGGAGTCCCTCAGACGACCTGCCGGCCAGGGTACCCCCCTGCCCCCACACAGCGCCTGACAGAGCCCCCCACACTGGGGGAACGTGGGGACCCAAGCAGGGGCAGCGGCCTCACCGGGCAGGCGGCGACCTGCATCATGGCGTCCAGCCCACCCTCGGGTGCATCCAGGTTTCCGGAAATCAGCTGCTTCCCGACCTCGGTCTGAAACTGGTTGGAGTTGTTGGTCAGCTTCAGCACGTGCCTGAAGGCAAACGGGGGCTGGCACTCTTTCTCCTTGTTGGGGCATGGGTTTCGCAGCTTATCAGGGTGCGTGTTCACGAACGGCAGCACGGTCTTGTCCACGAAGGACCCGAAGCCTGCAGGGCACATGGAGGGGCTGGGGAGGTGGCAGGCTGGGCCCAGGTGGGAGGGCCAGCTTCAAAGGGGCACGAGGGCAAGCCTGTTTCCTCTCTCCTAGCAGGGAGGTGGAGAAAGCAAGATGGCACATGTGGAGTGTGTGTGTGAGCATGTGCGTTGTGCAAGCACACATGTGAACGTATGTGGGCGTGTGTGTGAACCTGGGAGTGTGCAATGTACATGGATGAGCATAAGTGTATGCATGTGTGTTCCTGCATGTATGTGTGTGACCAGGTATACATGTGGGCATGTGAACAGGTGCGTATGTGTATCTGTGTGTGCAGCCATCTGCATGTGTAAACATGAGTGTGTACATGCGTAGCACAACTGTGTGTGCACGTATTCCTGTATGCATGTGAGCATGTTCAGGTATGGACACACCTAGTTCACGTAGGTGACCAGGTACATATGTGGGCATGTGTGTTTATGTACGATTTATACATGTGAGTGAAGACATACATGGGTGATCATGAGTGTGCATGTGAGCATGTCTGTGTGCACATGTGGTCTTGCACGTGTGTATGACTGTGTGTGCATGTGTGTGCACATGCAAGTGTGAGCATGCATTCATGTGTGTGAGCATGCATTTGTGTGTGAGCGTGCATTCACGTGTGTGAGCGTGCATTTGTGCATGTGAGCATACATTCGCGTGTGTGAGCATGCATTTGCGTGTGAGCATACATTCATGTGTGAGCATACATTCACATGTGAGAGCATGCATTTGTGTGTTTGAGCATGTGTGTGAGCATACATTCACGTGTGTGAGCATGCATTCACGTGTGTGTGCATTTGAGTTTGGGTGTGCTTTTGTGTGTGAGCATGCATTCGCGTGTGTGAGCATCCATTTGTGCATGTGAGGATACATTCATGTGTGAGTGTGCATTCGCATGTGTGAGCGTGCATTTGCGTTTGAGCATGCATTTGTGTGTGAGTGTGCATTGCATGTGTGAACATGCATTTGTGTGTGAGCGTGCATTCACGTGCATGAGCGTGCATTTGTGTGTGAGCGTGCATTTGTGTGAGCATGCATTTGCTTGTGTGTGTGTGTGTTATCGTGCATGTGTGCATCCCCGCATGTAGGGAAGGTGGCAGAGTGCCGATGTGAGAAGCCACGGCCGGCGGGGAAGACATGCGCTGTGACTGACACACACGTGTGCTGGAGACCTGCTCTGTGGCAAGGCAGTGCTGGTGTAGAGCGGAGCCCTTGGCCCAGCAGAGCTTGCTGTGTGGTTTCTTCAGTGCTGCCGTCGCTGTGCCGTCTATATGTGTTGTGGTCTTTAATGTTTAATAATTGGCACTGTCAGAATTTTGTCTTTTAAACATACCAAGAAATAAATAAAGGAAGTAGAAGATGGAAGGGGAAGTGGAGGGCTGGACAATGTCTACAAGTGTTGGGGAGCCAGGGACTGGGTGTGGCCCCTGGCAGGGAGGCAGGCCGACTGCAGCCCTGTGGATGCCCTGGGGGGACCTGCATCTGGGGCCCCCAGATCTACCCTGGGGACCTGAGTGCGAGGAGTTGTGTGGGCCACAGGCAGGAGTGGCCAGGGTCTGGGAAAGGACTGGGTTTTGTCCTGCAGTGCCTGGGCCTCACCAATGCGGCCGGACTCGGTGATCTCGTTGAGGGCCCGGAGCAGGTCGCCACCTAGCTTCTTGACATTCCTGAGGTCATCAAGCATGGAGTAGGAGAGGTCCATCAGATAGTACAGGTCGATGGGGTAGCCCTTGGCCCGCCGGAAGGTCACGTTGAACGCTGCTGCCTGGCCTGCCGGTGGGGACAGAACAAAAGGAGCCACACCTCACATCTCACACAGGGTGTCTGGGGGCGTGTGGCCCCGAGCGGGCTGTGCACTGGCACCCTCTCCTCCAGCCCCCAAATCCTCCTGACCTCCCC
CTCCCGGCGGAGGACCTGAGTCTTGTATCTCTAAAGTCCTTTGCGGCCCCCAGAGCCTACAACGTCAGGCTGCAAGAGCGTCGCACTACGGCCAGCGAGGACAAGCCCCTTGTGACCAGTGGTTGCCTCTCGGCCCACGGCTGATCCCAGCCAGAAGTCCTGGCCCCTCTGAGCCATTGAGATGCCTCCGCAGAGAGGCTCATCCTAACCCGTGCATCCTGGGCTCCTTCTCGCCTCTGTCCCTCCCTGCATGTTCCTCATGGTCCCCGCAGCCGCTCACCCAGCTCAGGCAATGGGGGCAGGGAGGGGCCACACTGGAGGAGGCGGACTCAGGGGCAGCAGGGAACGTACAGTGGAGGCCGGGAGGGGGAGGAGGCGGATGCTTGGGGATGGGACCCTGGCCAGAGGCGGGGACGGCAGGGTGCAGCCGTAGCCTGGGGGCGGTTACTATACCTCCACAGCAGCTGTCAGCCCAGGTAGGGGGGCAGTGGGGCTGGAGACCAACAGAGCCTGGGTGTCCCACAAGGGCGAGGCCGGGCCTCAGCCTGGCTGCCCCCACCAACCCTACCCTCCCCTGGCCTGAGGCCAGTCCGGGGAGACCCCACGCTGCCACTTGGGGCTTCCAGAAGTTTCCTCAGGAATCTGCTCCTTGGGTCAGAAGGAGGCTCTGTCAGGTGGAGACCCCACCCTTGTCTCCTCCGTCAGTGGTGTCCTGCCAGGCGGTGCCTGGGTGCCTGGGGTGGGGACTTACGAATTCGTTGCTCCTCTTGTACAAGTTGTCCTCCAGGTGACAGCGGCCGTCGTTGGGGGTCAGGATGGCGCCCAGCTTCCCGTCGCCCGCGAAATGGAAGCCGTCATCAGTGGCAAACACCAGCAGCCGCGTGACGTTGCGCCAGCCGATTTCCTCCTGAGAAGAAGGCGTGGGGGGCAGGGTTACCTGCCTCAGTTTCCCAGACCCGGCCCTCTGGAGCAGAGGAGACGATGCAGAGCTGGTGGGGTGGCCCGGAGGCTGGTGTGGGTCCCCCTTTCCCCTGGGTCTCAGGGACCCAGCTGTGTTCCCCCAGACGCCACGCCCAGGAGGAGACAACGGCCCTCAAACACCCCGTGCACATGTGAGGCGCAGGGAGTGGAGGCACGTGTGGAAAGGCAAGGAGAGAGACACGGCTGCGGTCCCTGCACTTCAGAGCTGGGAACAAACCCTCAGGAAACCATCCCCAAGGGGAAAAACCCTCGCAGACGTGTGGGCCACACGCAGAACGAGTGCAACATGGAGGAAAACGAGCCTGAGGGGCCCAGCAGGCCTTGAGTCCACCATTGACAGCCCCTGGCAGGCGCATGTGGGGGCCGTGCGTGTCCTAGGCTGTGACCTCACACTCGTGAGCAGTGTGTCTGCGCTGGGACTGCAGGGAAGCAGGAGAGCTAAGGTGGGTTGTGAGGGGAGGACAGTGCATGTGGCCTCAACATGGCCCAGGGACTGTGGCTGCTCTGTTAGGCTGACAGTCACAAACTGGGTGGGCGGGACGTGGAGAGCGACACACACTGGGCAGCCAGCGCCCACCCGGCCTGGAGGGAGGAGGGTGGTTCCACCCCAGGAACCACGGGACCTGCTGCCTAGCGGCCCTGTTCCACCCTTGGCCGCTCGCAAAATGTTTAGGCTTCATAAGGTTTGCCCAGGGTCACAAATTTAACTCACAGCAAACAATGAAATCAGCGCATGATTTTCGAGCCCTCGTGGTCACCCTCCCTTCCTCCTGCCCTTTCCTGCATGGGCAGCAGCAGGGTGAGGAGCTGCTCTCCCCAGGCCCAGGCTGGAGTCCCTCAGACGACCTGCCGGCCAGGGTACCCCCCTGCCCCCACACAGCGCCTGACAGAGCCCCCCACACTGGGGGAACGTGGGGACCCAAGCAGGGGCAGCGGCCTCACCGGGCAGGCGGCGACCTGCATCATGGCGTCCAGCCCACCCTCGGGTGCATCCAGGTTTCCGGAAATCAGCTGCTTCCCGACCTCGGTCTGAAACTGGTTGGAGTTGTTGGTCAGCTTCAGCACGTACCTGAAGGCAAACGGGGGCTGGCACTCTTTCTCCTTGTTGGGGCATGGGTTTCGCAGCTTATCAGGGTGCGTGTTCACGAACGGCAGCACGGTCTTGTCCACGAAGGACCCGAAGCCTGCAGGGCACATGGAGGGGCTGGGGAGGTGGCAGGCTGGGCCCAGGTGGGAGGGCCAGCTTCAAAGGGGCACGAGGGCAAGCCTGTTTCCTCTCTCCTAGCAGGGAGGTGGAGAAAGCAAGATGGCACATGTGGAGTGTGTGTGTGAGCATGTGCGTTGTGCAAGCACACATGTGAACGTATGTGGGCGTGTGTGTGAACCTGGGAGTGTGCAATGTACATGGATGAGCATAAGTGTATGCATGTGTGTTCCTGCATGTATGTGTGTGACCAGGTATACATGTGGGCATGTGAACAGGTGCGTATGTGTATCTGTGTGTGCAGCCATCTGCATGTGTAAACATGAGTGTGTACATGCGTAGCACAACTGTGTGTGCACGTATTCCTGTATGCATGTGAGCATGTTCAGGTATGGACACACCTAGTTCACGTAGGTGACCAGGTACATATGTGGGCATGTGTGTTTATGTACGATTTATACATGTGAGTGAAGACATACATGGGTGATCATGAGTGTGCATGTGAGCATGTCTGTGTGCACATGTGGTCTTGCACGTGTGTATGACTGTGTGTGCATGTGTGTGCACATGCAAGTGTGAGCATGCATTCATGTGTGTGAGCATGCATTTGTGTGTGAGCGTGCATTCACGTGTGTGAGCGTGCATTTGTGCATGTGAGCATACATTCGCGTGTGTGAGCATGCATTTGCGTGTGAGCATACATTCATGTGTGAGCATACATTCACATGTGAGAGCATGCATTTGTGTGTTTGAGCATGTGTGTGAGCATACATTCACGTGTGTGAGCATGCATTCACGTGTGTGTGCATTTGAGTTTGGGTGTGCTTTTGTGTGTGAGCATGCATTCGCGTGTGTGAGCATCCATTTGTGCATGTGAGGATACATTCATGTGTGAGTGTGCATTCGCATGTGTGAGCGTGCATTTGCGTTTGAGCATGCATTTGTGTGTGAGTGTGCATTGCATGTGTGAACATGCATTTGTGTGTGAGCGTGCATTCACGTGCATGAGCGTGCATTTGTGTGTGAGCGTGCATTTGTGTGAGCATGCATTTGCTTGTGTGTGTGTGTGTTATCGTGCATGTGTGCATCCCCGCATGTAGGGAAGGTGGCAGAGTGCCGATGTGAGAAGCCACGGCCGGCGGGGAAGACATGCGCTGTGACTGACACACACGTGTGCTGGAGACCTGCTCTGTGGCAAGGCAGTGCTGGTGTAGAGCGGAGCCCTTGGCCCAGCAGAGCTTGCTGTGTGGTTTCTTCAGTGCTGCCGTCGCTGTGCCGTCTATATGTGTTGTGGTCTTTAATGTTTAATAATTGGCACTGTCAGAATTTTGTCTTTTAAACATACCAAGAAATAAATAAAGGAAGTAGAAGATGGAAGGGGAAGTGGAGGGCTGGACAATGTCTACAAGTGTTGGGGAGCCAGGGACTGGGTGTGGCCCCTGGCAGGGAGGCAGGCCGACTGCAGCCCTGTGGATGCCCTGGGGGGACCTGCATCTGGGGCCCCCAGATCTACCCTGGGGACCTGAGTGCGAGGAGTTGTGTGGGCCACAGGCAGGAGTGGCCAGGGTCTGGGAAAGGACTGGGTTTTGTCCTGCAGTGCCTGGGCCTCACCAATGCGGCCGGACTCGGTGATCTCGTTGAGGGCCCGGAGCAGGTCGCCACCTAGCTTCTTGACATTCCTGAGGTCATCAAGCATGGAGTAGGAGAGGTCCATCAGATAGTACAGGTCGATGGGGTAGCCCTTGGCCCGCCGGAAGGTCACGTTGAACGCTGCTGCCTGGCCTGCCGGTGGGGACAGAACAAAAGGAGCCACACCTCACATCTCACACAGGGTGTCTGGGGGCGTGTGGCCCCGAGCGGGCTGTGCACTGGCACCCTCTCCTCCAGCCCCCAAATCCTCCTGACCTCCCC
Task1_train_28465
Gene ITGB2 (integrin subunit beta 2), found on Chromosome 21, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Leukocyte adhesion deficiency 1
TCTAAAGTCCTTTGCGGCCCCCAGAGCCTACAACGTCAGGCTGCAAGAGCGTCGCACTACGGCCAGCGAGGACAAGCCCCTTGTGACCAGTGGTTGCCTCTCGGCCCACGGCTGATCCCAGCCAGAAGTCCTGGCCCCTCTGAGCCATTGAGATGCCTCCGCAGAGAGGCTCATCCTAACCCGTGCATCCTGGGCTCCTTCTCGCCTCTGTCCCTCCCTGCATGTTCCTCATGGTCCCCGCAGCCGCTCACCCAGCTCAGGCAATGGGGGCAGGGAGGGGCCACACTGGAGGAGGCGGACTCAGGGGCAGCAGGGAACGTACAGTGGAGGCCGGGAGGGGGAGGAGGCGGATGCTTGGGGATGGGACCCTGGCCAGAGGCGGGGACGGCAGGGTGCAGCCGTAGCCTGGGGGCGGTTACTATACCTCCACAGCAGCTGTCAGCCCAGGTAGGGGGGCAGTGGGGCTGGAGACCAACAGAGCCTGGGTGTCCCACAAGGGCGAGGCCGGGCCTCAGCCTGGCTGCCCCCACCAACCCTACCCTCCCCTGGCCTGAGGCCAGTCCGGGGAGACCCCACGCTGCCACTTGGGGCTTCCAGAAGTTTCCTCAGGAATCTGCTCCTTGGGTCAGAAGGAGGCTCTGTCAGGTGGAGACCCCACCCTTGTCTCCTCCGTCAGTGGTGTCCTGCCAGGCGGTGCCTGGGTGCCTGGGGTGGGGACTTACGAATTCGTTGCTCCTCTTGTACAAGTTGTCCTCCAGGTGACAGCGGCCGTCGTTGGGGGTCAGGATGGCGCCCAGCTTCCCGTCGCCCGCGAAATGGAAGCCGTCATCAGTGGCAAACACCAGCAGCCGCGTGACGTTGCGCCAGCCGATTTCCTCCTGAGAAGAAGGCGTGGGGGGCAGGGTTACCTGCCTCAGTTTCCCAGACCCGGCCCTCTGGAGCAGAGGAGACGATGCAGAGCTGGTGGGGTGGCCCGGAGGCTGGTGTGGGTCCCCCTTTCCCCTGGGTCTCAGGGACCCAGCTGTGTTCCCCCAGACGCCACGCCCAGGAGGAGACAACGGCCCTCAAACACCCCGTGCACATGTGAGGCGCAGGGAGTGGAGGCACGTGTGGAAAGGCAAGGAGAGAGACACGGCTGCGGTCCCTGCACTTCAGAGCTGGGAACAAACCCTCAGGAAACCATCCCCAAGGGGAAAAACCCTCGCAGACGTGTGGGCCACACGCAGAACGAGTGCAACATGGAGGAAAACGAGCCTGAGGGGCCCAGCAGGCCTTGAGTCCACCATTGACAGCCCCTGGCAGGCGCATGTGGGGGCCGTGCGTGTCCTAGGCTGTGACCTCACACTCGTGAGCAGTGTGTCTGCGCTGGGACTGCAGGGAAGCAGGAGAGCTAAGGTGGGTTGTGAGGGGAGGACAGTGCATGTGGCCTCAACATGGCCCAGGGACTGTGGCTGCTCTGTTAGGCTGACAGTCACAAACTGGGTGGGCGGGACGTGGAGAGCGACACACACTGGGCAGCCAGCGCCCACCCGGCCTGGAGGGAGGAGGGTGGTTCCACCCCAGGAACCACGGGACCTGCTGCCTAGCGGCCCTGTTCCACCCTTGGCCGCTCGCAAAATGTTTAGGCTTCATAAGGTTTGCCCAGGGTCACAAATTTAACTCACAGCAAACAATGAAATCAGCGCATGATTTTCGAGCCCTCGTGGTCACCCTCCCTTCCTCCTGCCCTTTCCTGCATGGGCAGCAGCAGGGTGAGGAGCTGCTCTCCCCAGGCCCAGGCTGGAGTCCCTCAGACGACCTGCCGGCCAGGGTACCCCCCTGCCCCCACACAGCGCCTGACAGAGCCCCCCACACTGGGGGAACGTGGGGACCCAAGCAGGGGCAGCGGCCTCACCGGGCAGGCGGCGACCTGCATCATGGCGTCCAGCCCACCCTCGGGTGCATCCAGGTTTCCGGAAATCAGCTGCTTCCCGACCTCGGTCTGAAACTGGTTGGAGTTGTTGGTCAGCTTCAGCACGTGCCTGAAGGCAAACGGGGGCTGGCACTCTTTCTCCTTGTTGGGGCATGGGTTTCGCAGCTTATCAGGGTGCGTGTTCACGAACGGCAGCACGGTCTTGTCCACGAAGGACCCGAAGCCTGCAGGGCACATGGAGGGGCTGGGGAGGTGGCAGGCTGGGCCCAGGTGGGAGGGCCAGCTTCAAAGGGGCACGAGGGCAAGCCTGTTTCCTCTCTCCTAGCAGGGAGGTGGAGAAAGCAAGATGGCACATGTGGAGTGTGTGTGTGAGCATGTGCGTTGTGCAAGCACACATGTGAACGTATGTGGGCGTGTGTGTGAACCTGGGAGTGTGCAATGTACATGGATGAGCATAAGTGTATGCATGTGTGTTCCTGCATGTATGTGTGTGACCAGGTATACATGTGGGCATGTGAACAGGTGCGTATGTGTATCTGTGTGTGCAGCCATCTGCATGTGTAAACATGAGTGTGTACATGCGTAGCACAACTGTGTGTGCACGTATTCCTGTATGCATGTGAGCATGTTCAGGTATGGACACACCTAGTTCACGTAGGTGACCAGGTACATATGTGGGCATGTGTGTTTATGTACGATTTATACATGTGAGTGAAGACATACATGGGTGATCATGAGTGTGCATGTGAGCATGTCTGTGTGCACATGTGGTCTTGCACGTGTGTATGACTGTGTGTGCATGTGTGTGCACATGCAAGTGTGAGCATGCATTCATGTGTGTGAGCATGCATTTGTGTGTGAGCGTGCATTCACGTGTGTGAGCGTGCATTTGTGCATGTGAGCATACATTCGCGTGTGTGAGCATGCATTTGCGTGTGAGCATACATTCATGTGTGAGCATACATTCACATGTGAGAGCATGCATTTGTGTGTTTGAGCATGTGTGTGAGCATACATTCACGTGTGTGAGCATGCATTCACGTGTGTGTGCATTTGAGTTTGGGTGTGCTTTTGTGTGTGAGCATGCATTCGCGTGTGTGAGCATCCATTTGTGCATGTGAGGATACATTCATGTGTGAGTGTGCATTCGCATGTGTGAGCGTGCATTTGCGTTTGAGCATGCATTTGTGTGTGAGTGTGCATTGCATGTGTGAACATGCATTTGTGTGTGAGCGTGCATTCACGTGCATGAGCGTGCATTTGTGTGTGAGCGTGCATTTGTGTGAGCATGCATTTGCTTGTGTGTGTGTGTGTTATCGTGCATGTGTGCATCCCCGCATGTAGGGAAGGTGGCAGAGTGCCGATGTGAGAAGCCACGGCCGGCGGGGAAGACATGCGCTGTGACTGACACACACGTGTGCTGGAGACCTGCTCTGTGGCAAGGCAGTGCTGGTGTAGAGCGGAGCCCTTGGCCCAGCAGAGCTTGCTGTGTGGTTTCTTCAGTGCTGCCGTCGCTGTGCCGTCTATATGTGTTGTGGTCTTTAATGTTTAATAATTGGCACTGTCAGAATTTTGTCTTTTAAACATACCAAGAAATAAATAAAGGAAGTAGAAGATGGAAGGGGAAGTGGAGGGCTGGACAATGTCTACAAGTGTTGGGGAGCCAGGGACTGGGTGTGGCCCCTGGCAGGGAGGCAGGCCGACTGCAGCCCTGTGGATGCCCTGGGGGGACCTGCATCTGGGGCCCCCAGATCTACCCTGGGGACCTGAGTGCGAGGAGTTGTGTGGGCCACAGGCAGGAGTGGCCAGGGTCTGGGAAAGGACTGGGTTTTGTCCTGCAGTGCCTGGGCCTCACCAATGCGGCCGGACTCGGTGATCTCGTTGAGGGCCCGGAGCAGGTCGCCACCTAGCTTCTTGACATTCCTGAGGTCATCAAGCATGGAGTAGGAGAGGTCCATCAGATAGTACAGGTCGATGGGGTAGCCCTTGGCCCGCCGGAAGGTCACGTTGAACGCTGCTGCCTGGCCTGCCGGTGGGGACAGAACAAAAGGAGCCACACCTCACATCTCACACAGGGTGTCTGGGGGCGTGTGGCCCCGAGCGGGCTGTGCACTGGCACCCTCTCCTCCAGCCCCCAAATCCTCCTGACCTCCCCTCTCCCCGCCTGGCAGGAGAGCTGAGGAC
TCTAAAGTCCTTTGCGGCCCCCAGAGCCTACAACGTCAGGCTGCAAGAGCGTCGCACTACGGCCAGCGAGGACAAGCCCCTTGTGACCAGTGGTTGCCTCTCGGCCCACGGCTGATCCCAGCCAGAAGTCCTGGCCCCTCTGAGCCATTGAGATGCCTCCGCAGAGAGGCTCATCCTAACCCGTGCATCCTGGGCTCCTTCTCGCCTCTGTCCCTCCCTGCATGTTCCTCATGGTCCCCGCAGCCGCTCACCCAGCTCAGGCAATGGGGGCAGGGAGGGGCCACACTGGAGGAGGCGGACTCAGGGGCAGCAGGGAACGTACAGTGGAGGCCGGGAGGGGGAGGAGGCGGATGCTTGGGGATGGGACCCTGGCCAGAGGCGGGGACGGCAGGGTGCAGCCGTAGCCTGGGGGCGGTTACTATACCTCCACAGCAGCTGTCAGCCCAGGTAGGGGGGCAGTGGGGCTGGAGACCAACAGAGCCTGGGTGTCCCACAAGGGCGAGGCCGGGCCTCAGCCTGGCTGCCCCCACCAACCCTACCCTCCCCTGGCCTGAGGCCAGTCCGGGGAGACCCCACGCTGCCACTTGGGGCTTCCAGAAGTTTCCTCAGGAATCTGCTCCTTGGGTCAGAAGGAGGCTCTGTCAGGTGGAGACCCCACCCTTGTCTCCTCCGTCAGTGGTGTCCTGCCAGGCGGTGCCTGGGTGCCTGGGGTGGGGACTTACGAATTCGTTGCTCCTCTTGTACAAGTTGTCCTCCAGGTGACAGCGGCCGTCGTTGGGGGTCAGGATGGCGCCCAGCTTCCCGTCGCCCGCGAAATGGAAGCCGTCATCAGTGGCAAACACCAGCAGCCGCGTGACGTTGCGCCAGCCGATTTCCTCCTGAGAAGAAGGCGTGGGGGGCAGGGTTACCTGCCTCAGTTTCCCAGACCCGGCCCTCTGGAGCAGAGGAGACGATGCAGAGCTGGTGGGGTGGCCCGGAGGCTGGTGTGGGTCCCCCTTTCCCCTGGGTCTCAGGGACCCAGCTGTGTTCCCCCAGACGCCACGCCCAGGAGGAGACAACGGCCCTCAAACACCCCGTGCACATGTGAGGCGCAGGGAGTGGAGGCACGTGTGGAAAGGCAAGGAGAGAGACACGGCTGCGGTCCCTGCACTTCAGAGCTGGGAACAAACCCTCAGGAAACCATCCCCAAGGGGAAAAACCCTCGCAGACGTGTGGGCCACACGCAGAACGAGTGCAACATGGAGGAAAACGAGCCTGAGGGGCCCAGCAGGCCTTGAGTCCACCATTGACAGCCCCTGGCAGGCGCATGTGGGGGCCGTGCGTGTCCTAGGCTGTGACCTCACACTCGTGAGCAGTGTGTCTGCGCTGGGACTGCAGGGAAGCAGGAGAGCTAAGGTGGGTTGTGAGGGGAGGACAGTGCATGTGGCCTCAACATGGCCCAGGGACTGTGGCTGCTCTGTTAGGCTGACAGTCACAAACTGGGTGGGCGGGACGTGGAGAGCGACACACACTGGGCAGCCAGCGCCCACCCGGCCTGGAGGGAGGAGGGTGGTTCCACCCCAGGAACCACGGGACCTGCTGCCTAGCGGCCCTGTTCCACCCTTGGCCGCTCGCAAAATGTTTAGGCTTCATAAGGTTTGCCCAGGGTCACAAATTTAACTCACAGCAAACAATGAAATCAGCGCATGATTTTCGAGCCCTCGTGGTCACCCTCCCTTCCTCCTGCCCTTTCCTGCATGGGCAGCAGCAGGGTGAGGAGCTGCTCTCCCCAGGCCCAGGCTGGAGTCCCTCAGACGACCTGCCGGCCAGGGTACCCCCCTGCCCCCACACAGCGCCTGACAGAGCCCCCCACACTGGGGGAACGTGGGGACCCAAGCAGGGGCAGCGGCCTCACCGGGCAGGCGGCGACCTGCATCATGGCGTCCAGCCCACCCTCGGGTGCATCCAGGTTTCCGGAAATCAGCTGCTTCCCGACCTCGGTCTGAAACTGGTTGGAGTTGTTGGTCAGCTTCAGCACGTGCCTGAAGGCAAACGGGGGCTGGCACTCTGTCTCCTTGTTGGGGCATGGGTTTCGCAGCTTATCAGGGTGCGTGTTCACGAACGGCAGCACGGTCTTGTCCACGAAGGACCCGAAGCCTGCAGGGCACATGGAGGGGCTGGGGAGGTGGCAGGCTGGGCCCAGGTGGGAGGGCCAGCTTCAAAGGGGCACGAGGGCAAGCCTGTTTCCTCTCTCCTAGCAGGGAGGTGGAGAAAGCAAGATGGCACATGTGGAGTGTGTGTGTGAGCATGTGCGTTGTGCAAGCACACATGTGAACGTATGTGGGCGTGTGTGTGAACCTGGGAGTGTGCAATGTACATGGATGAGCATAAGTGTATGCATGTGTGTTCCTGCATGTATGTGTGTGACCAGGTATACATGTGGGCATGTGAACAGGTGCGTATGTGTATCTGTGTGTGCAGCCATCTGCATGTGTAAACATGAGTGTGTACATGCGTAGCACAACTGTGTGTGCACGTATTCCTGTATGCATGTGAGCATGTTCAGGTATGGACACACCTAGTTCACGTAGGTGACCAGGTACATATGTGGGCATGTGTGTTTATGTACGATTTATACATGTGAGTGAAGACATACATGGGTGATCATGAGTGTGCATGTGAGCATGTCTGTGTGCACATGTGGTCTTGCACGTGTGTATGACTGTGTGTGCATGTGTGTGCACATGCAAGTGTGAGCATGCATTCATGTGTGTGAGCATGCATTTGTGTGTGAGCGTGCATTCACGTGTGTGAGCGTGCATTTGTGCATGTGAGCATACATTCGCGTGTGTGAGCATGCATTTGCGTGTGAGCATACATTCATGTGTGAGCATACATTCACATGTGAGAGCATGCATTTGTGTGTTTGAGCATGTGTGTGAGCATACATTCACGTGTGTGAGCATGCATTCACGTGTGTGTGCATTTGAGTTTGGGTGTGCTTTTGTGTGTGAGCATGCATTCGCGTGTGTGAGCATCCATTTGTGCATGTGAGGATACATTCATGTGTGAGTGTGCATTCGCATGTGTGAGCGTGCATTTGCGTTTGAGCATGCATTTGTGTGTGAGTGTGCATTGCATGTGTGAACATGCATTTGTGTGTGAGCGTGCATTCACGTGCATGAGCGTGCATTTGTGTGTGAGCGTGCATTTGTGTGAGCATGCATTTGCTTGTGTGTGTGTGTGTTATCGTGCATGTGTGCATCCCCGCATGTAGGGAAGGTGGCAGAGTGCCGATGTGAGAAGCCACGGCCGGCGGGGAAGACATGCGCTGTGACTGACACACACGTGTGCTGGAGACCTGCTCTGTGGCAAGGCAGTGCTGGTGTAGAGCGGAGCCCTTGGCCCAGCAGAGCTTGCTGTGTGGTTTCTTCAGTGCTGCCGTCGCTGTGCCGTCTATATGTGTTGTGGTCTTTAATGTTTAATAATTGGCACTGTCAGAATTTTGTCTTTTAAACATACCAAGAAATAAATAAAGGAAGTAGAAGATGGAAGGGGAAGTGGAGGGCTGGACAATGTCTACAAGTGTTGGGGAGCCAGGGACTGGGTGTGGCCCCTGGCAGGGAGGCAGGCCGACTGCAGCCCTGTGGATGCCCTGGGGGGACCTGCATCTGGGGCCCCCAGATCTACCCTGGGGACCTGAGTGCGAGGAGTTGTGTGGGCCACAGGCAGGAGTGGCCAGGGTCTGGGAAAGGACTGGGTTTTGTCCTGCAGTGCCTGGGCCTCACCAATGCGGCCGGACTCGGTGATCTCGTTGAGGGCCCGGAGCAGGTCGCCACCTAGCTTCTTGACATTCCTGAGGTCATCAAGCATGGAGTAGGAGAGGTCCATCAGATAGTACAGGTCGATGGGGTAGCCCTTGGCCCGCCGGAAGGTCACGTTGAACGCTGCTGCCTGGCCTGCCGGTGGGGACAGAACAAAAGGAGCCACACCTCACATCTCACACAGGGTGTCTGGGGGCGTGTGGCCCCGAGCGGGCTGTGCACTGGCACCCTCTCCTCCAGCCCCCAAATCCTCCTGACCTCCCCTCTCCCCGCCTGGCAGGAGAGCTGAGGAC
Task1_train_28466
Assess the clinical impact of this variant on gene ITGB2 (integrin subunit beta 2), found on Chromosome 21. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Leukocyte adhesion deficiency 1
CACTACGGCCAGCGAGGACAAGCCCCTTGTGACCAGTGGTTGCCTCTCGGCCCACGGCTGATCCCAGCCAGAAGTCCTGGCCCCTCTGAGCCATTGAGATGCCTCCGCAGAGAGGCTCATCCTAACCCGTGCATCCTGGGCTCCTTCTCGCCTCTGTCCCTCCCTGCATGTTCCTCATGGTCCCCGCAGCCGCTCACCCAGCTCAGGCAATGGGGGCAGGGAGGGGCCACACTGGAGGAGGCGGACTCAGGGGCAGCAGGGAACGTACAGTGGAGGCCGGGAGGGGGAGGAGGCGGATGCTTGGGGATGGGACCCTGGCCAGAGGCGGGGACGGCAGGGTGCAGCCGTAGCCTGGGGGCGGTTACTATACCTCCACAGCAGCTGTCAGCCCAGGTAGGGGGGCAGTGGGGCTGGAGACCAACAGAGCCTGGGTGTCCCACAAGGGCGAGGCCGGGCCTCAGCCTGGCTGCCCCCACCAACCCTACCCTCCCCTGGCCTGAGGCCAGTCCGGGGAGACCCCACGCTGCCACTTGGGGCTTCCAGAAGTTTCCTCAGGAATCTGCTCCTTGGGTCAGAAGGAGGCTCTGTCAGGTGGAGACCCCACCCTTGTCTCCTCCGTCAGTGGTGTCCTGCCAGGCGGTGCCTGGGTGCCTGGGGTGGGGACTTACGAATTCGTTGCTCCTCTTGTACAAGTTGTCCTCCAGGTGACAGCGGCCGTCGTTGGGGGTCAGGATGGCGCCCAGCTTCCCGTCGCCCGCGAAATGGAAGCCGTCATCAGTGGCAAACACCAGCAGCCGCGTGACGTTGCGCCAGCCGATTTCCTCCTGAGAAGAAGGCGTGGGGGGCAGGGTTACCTGCCTCAGTTTCCCAGACCCGGCCCTCTGGAGCAGAGGAGACGATGCAGAGCTGGTGGGGTGGCCCGGAGGCTGGTGTGGGTCCCCCTTTCCCCTGGGTCTCAGGGACCCAGCTGTGTTCCCCCAGACGCCACGCCCAGGAGGAGACAACGGCCCTCAAACACCCCGTGCACATGTGAGGCGCAGGGAGTGGAGGCACGTGTGGAAAGGCAAGGAGAGAGACACGGCTGCGGTCCCTGCACTTCAGAGCTGGGAACAAACCCTCAGGAAACCATCCCCAAGGGGAAAAACCCTCGCAGACGTGTGGGCCACACGCAGAACGAGTGCAACATGGAGGAAAACGAGCCTGAGGGGCCCAGCAGGCCTTGAGTCCACCATTGACAGCCCCTGGCAGGCGCATGTGGGGGCCGTGCGTGTCCTAGGCTGTGACCTCACACTCGTGAGCAGTGTGTCTGCGCTGGGACTGCAGGGAAGCAGGAGAGCTAAGGTGGGTTGTGAGGGGAGGACAGTGCATGTGGCCTCAACATGGCCCAGGGACTGTGGCTGCTCTGTTAGGCTGACAGTCACAAACTGGGTGGGCGGGACGTGGAGAGCGACACACACTGGGCAGCCAGCGCCCACCCGGCCTGGAGGGAGGAGGGTGGTTCCACCCCAGGAACCACGGGACCTGCTGCCTAGCGGCCCTGTTCCACCCTTGGCCGCTCGCAAAATGTTTAGGCTTCATAAGGTTTGCCCAGGGTCACAAATTTAACTCACAGCAAACAATGAAATCAGCGCATGATTTTCGAGCCCTCGTGGTCACCCTCCCTTCCTCCTGCCCTTTCCTGCATGGGCAGCAGCAGGGTGAGGAGCTGCTCTCCCCAGGCCCAGGCTGGAGTCCCTCAGACGACCTGCCGGCCAGGGTACCCCCCTGCCCCCACACAGCGCCTGACAGAGCCCCCCACACTGGGGGAACGTGGGGACCCAAGCAGGGGCAGCGGCCTCACCGGGCAGGCGGCGACCTGCATCATGGCGTCCAGCCCACCCTCGGGTGCATCCAGGTTTCCGGAAATCAGCTGCTTCCCGACCTCGGTCTGAAACTGGTTGGAGTTGTTGGTCAGCTTCAGCACGTGCCTGAAGGCAAACGGGGGCTGGCACTCTTTCTCCTTGTTGGGGCATGGGTTTCGCAGCTTATCAGGGTGCGTGTTCACGAACGGCAGCACGGTCTTGTCCACGAAGGACCCGAAGCCTGCAGGGCACATGGAGGGGCTGGGGAGGTGGCAGGCTGGGCCCAGGTGGGAGGGCCAGCTTCAAAGGGGCACGAGGGCAAGCCTGTTTCCTCTCTCCTAGCAGGGAGGTGGAGAAAGCAAGATGGCACATGTGGAGTGTGTGTGTGAGCATGTGCGTTGTGCAAGCACACATGTGAACGTATGTGGGCGTGTGTGTGAACCTGGGAGTGTGCAATGTACATGGATGAGCATAAGTGTATGCATGTGTGTTCCTGCATGTATGTGTGTGACCAGGTATACATGTGGGCATGTGAACAGGTGCGTATGTGTATCTGTGTGTGCAGCCATCTGCATGTGTAAACATGAGTGTGTACATGCGTAGCACAACTGTGTGTGCACGTATTCCTGTATGCATGTGAGCATGTTCAGGTATGGACACACCTAGTTCACGTAGGTGACCAGGTACATATGTGGGCATGTGTGTTTATGTACGATTTATACATGTGAGTGAAGACATACATGGGTGATCATGAGTGTGCATGTGAGCATGTCTGTGTGCACATGTGGTCTTGCACGTGTGTATGACTGTGTGTGCATGTGTGTGCACATGCAAGTGTGAGCATGCATTCATGTGTGTGAGCATGCATTTGTGTGTGAGCGTGCATTCACGTGTGTGAGCGTGCATTTGTGCATGTGAGCATACATTCGCGTGTGTGAGCATGCATTTGCGTGTGAGCATACATTCATGTGTGAGCATACATTCACATGTGAGAGCATGCATTTGTGTGTTTGAGCATGTGTGTGAGCATACATTCACGTGTGTGAGCATGCATTCACGTGTGTGTGCATTTGAGTTTGGGTGTGCTTTTGTGTGTGAGCATGCATTCGCGTGTGTGAGCATCCATTTGTGCATGTGAGGATACATTCATGTGTGAGTGTGCATTCGCATGTGTGAGCGTGCATTTGCGTTTGAGCATGCATTTGTGTGTGAGTGTGCATTGCATGTGTGAACATGCATTTGTGTGTGAGCGTGCATTCACGTGCATGAGCGTGCATTTGTGTGTGAGCGTGCATTTGTGTGAGCATGCATTTGCTTGTGTGTGTGTGTGTTATCGTGCATGTGTGCATCCCCGCATGTAGGGAAGGTGGCAGAGTGCCGATGTGAGAAGCCACGGCCGGCGGGGAAGACATGCGCTGTGACTGACACACACGTGTGCTGGAGACCTGCTCTGTGGCAAGGCAGTGCTGGTGTAGAGCGGAGCCCTTGGCCCAGCAGAGCTTGCTGTGTGGTTTCTTCAGTGCTGCCGTCGCTGTGCCGTCTATATGTGTTGTGGTCTTTAATGTTTAATAATTGGCACTGTCAGAATTTTGTCTTTTAAACATACCAAGAAATAAATAAAGGAAGTAGAAGATGGAAGGGGAAGTGGAGGGCTGGACAATGTCTACAAGTGTTGGGGAGCCAGGGACTGGGTGTGGCCCCTGGCAGGGAGGCAGGCCGACTGCAGCCCTGTGGATGCCCTGGGGGGACCTGCATCTGGGGCCCCCAGATCTACCCTGGGGACCTGAGTGCGAGGAGTTGTGTGGGCCACAGGCAGGAGTGGCCAGGGTCTGGGAAAGGACTGGGTTTTGTCCTGCAGTGCCTGGGCCTCACCAATGCGGCCGGACTCGGTGATCTCGTTGAGGGCCCGGAGCAGGTCGCCACCTAGCTTCTTGACATTCCTGAGGTCATCAAGCATGGAGTAGGAGAGGTCCATCAGATAGTACAGGTCGATGGGGTAGCCCTTGGCCCGCCGGAAGGTCACGTTGAACGCTGCTGCCTGGCCTGCCGGTGGGGACAGAACAAAAGGAGCCACACCTCACATCTCACACAGGGTGTCTGGGGGCGTGTGGCCCCGAGCGGGCTGTGCACTGGCACCCTCTCCTCCAGCCCCCAAATCCTCCTGACCTCCCCTCTCCCCGCCTGGCAGGAGAGCTGAGGACCAGACACAGGACATCCAGGCAGGCTGGAGTTTCAGAGGAAGGACATGACTCCCG
CACTACGGCCAGCGAGGACAAGCCCCTTGTGACCAGTGGTTGCCTCTCGGCCCACGGCTGATCCCAGCCAGAAGTCCTGGCCCCTCTGAGCCATTGAGATGCCTCCGCAGAGAGGCTCATCCTAACCCGTGCATCCTGGGCTCCTTCTCGCCTCTGTCCCTCCCTGCATGTTCCTCATGGTCCCCGCAGCCGCTCACCCAGCTCAGGCAATGGGGGCAGGGAGGGGCCACACTGGAGGAGGCGGACTCAGGGGCAGCAGGGAACGTACAGTGGAGGCCGGGAGGGGGAGGAGGCGGATGCTTGGGGATGGGACCCTGGCCAGAGGCGGGGACGGCAGGGTGCAGCCGTAGCCTGGGGGCGGTTACTATACCTCCACAGCAGCTGTCAGCCCAGGTAGGGGGGCAGTGGGGCTGGAGACCAACAGAGCCTGGGTGTCCCACAAGGGCGAGGCCGGGCCTCAGCCTGGCTGCCCCCACCAACCCTACCCTCCCCTGGCCTGAGGCCAGTCCGGGGAGACCCCACGCTGCCACTTGGGGCTTCCAGAAGTTTCCTCAGGAATCTGCTCCTTGGGTCAGAAGGAGGCTCTGTCAGGTGGAGACCCCACCCTTGTCTCCTCCGTCAGTGGTGTCCTGCCAGGCGGTGCCTGGGTGCCTGGGGTGGGGACTTACGAATTCGTTGCTCCTCTTGTACAAGTTGTCCTCCAGGTGACAGCGGCCGTCGTTGGGGGTCAGGATGGCGCCCAGCTTCCCGTCGCCCGCGAAATGGAAGCCGTCATCAGTGGCAAACACCAGCAGCCGCGTGACGTTGCGCCAGCCGATTTCCTCCTGAGAAGAAGGCGTGGGGGGCAGGGTTACCTGCCTCAGTTTCCCAGACCCGGCCCTCTGGAGCAGAGGAGACGATGCAGAGCTGGTGGGGTGGCCCGGAGGCTGGTGTGGGTCCCCCTTTCCCCTGGGTCTCAGGGACCCAGCTGTGTTCCCCCAGACGCCACGCCCAGGAGGAGACAACGGCCCTCAAACACCCCGTGCACATGTGAGGCGCAGGGAGTGGAGGCACGTGTGGAAAGGCAAGGAGAGAGACACGGCTGCGGTCCCTGCACTTCAGAGCTGGGAACAAACCCTCAGGAAACCATCCCCAAGGGGAAAAACCCTCGCAGACGTGTGGGCCACACGCAGAACGAGTGCAACATGGAGGAAAACGAGCCTGAGGGGCCCAGCAGGCCTTGAGTCCACCATTGACAGCCCCTGGCAGGCGCATGTGGGGGCCGTGCGTGTCCTAGGCTGTGACCTCACACTCGTGAGCAGTGTGTCTGCGCTGGGACTGCAGGGAAGCAGGAGAGCTAAGGTGGGTTGTGAGGGGAGGACAGTGCATGTGGCCTCAACATGGCCCAGGGACTGTGGCTGCTCTGTTAGGCTGACAGTCACAAACTGGGTGGGCGGGACGTGGAGAGCGACACACACTGGGCAGCCAGCGCCCACCCGGCCTGGAGGGAGGAGGGTGGTTCCACCCCAGGAACCACGGGACCTGCTGCCTAGCGGCCCTGTTCCACCCTTGGCCGCTCGCAAAATGTTTAGGCTTCATAAGGTTTGCCCAGGGTCACAAATTTAACTCACAGCAAACAATGAAATCAGCGCATGATTTTCGAGCCCTCGTGGTCACCCTCCCTTCCTCCTGCCCTTTCCTGCATGGGCAGCAGCAGGGTGAGGAGCTGCTCTCCCCAGGCCCAGGCTGGAGTCCCTCAGACGACCTGCCGGCCAGGGTACCCCCCTGCCCCCACACAGCGCCTGACAGAGCCCCCCACACTGGGGGAACGTGGGGACCCAAGCAGGGGCAGCGGCCTCACCGGGCAGGCGGCGACCTGCATCATGGCGTCCAGCCCACCCTCGGGTGCATCCAGGTTTCCGGAAATCAGCTGCTTCCCGACCTCGGTCTGAAACTGGTTGGAGTTGTTGGTCAGCTTCAGCACGTGCCTGAAGGCAAACGGGGGCTGGCACTCTTTCTCCTTGTTGGGGCATGGGTTTCGCAGCTTATCAGGGTGCGTGTTCACGAACAGCAGCACGGTCTTGTCCACGAAGGACCCGAAGCCTGCAGGGCACATGGAGGGGCTGGGGAGGTGGCAGGCTGGGCCCAGGTGGGAGGGCCAGCTTCAAAGGGGCACGAGGGCAAGCCTGTTTCCTCTCTCCTAGCAGGGAGGTGGAGAAAGCAAGATGGCACATGTGGAGTGTGTGTGTGAGCATGTGCGTTGTGCAAGCACACATGTGAACGTATGTGGGCGTGTGTGTGAACCTGGGAGTGTGCAATGTACATGGATGAGCATAAGTGTATGCATGTGTGTTCCTGCATGTATGTGTGTGACCAGGTATACATGTGGGCATGTGAACAGGTGCGTATGTGTATCTGTGTGTGCAGCCATCTGCATGTGTAAACATGAGTGTGTACATGCGTAGCACAACTGTGTGTGCACGTATTCCTGTATGCATGTGAGCATGTTCAGGTATGGACACACCTAGTTCACGTAGGTGACCAGGTACATATGTGGGCATGTGTGTTTATGTACGATTTATACATGTGAGTGAAGACATACATGGGTGATCATGAGTGTGCATGTGAGCATGTCTGTGTGCACATGTGGTCTTGCACGTGTGTATGACTGTGTGTGCATGTGTGTGCACATGCAAGTGTGAGCATGCATTCATGTGTGTGAGCATGCATTTGTGTGTGAGCGTGCATTCACGTGTGTGAGCGTGCATTTGTGCATGTGAGCATACATTCGCGTGTGTGAGCATGCATTTGCGTGTGAGCATACATTCATGTGTGAGCATACATTCACATGTGAGAGCATGCATTTGTGTGTTTGAGCATGTGTGTGAGCATACATTCACGTGTGTGAGCATGCATTCACGTGTGTGTGCATTTGAGTTTGGGTGTGCTTTTGTGTGTGAGCATGCATTCGCGTGTGTGAGCATCCATTTGTGCATGTGAGGATACATTCATGTGTGAGTGTGCATTCGCATGTGTGAGCGTGCATTTGCGTTTGAGCATGCATTTGTGTGTGAGTGTGCATTGCATGTGTGAACATGCATTTGTGTGTGAGCGTGCATTCACGTGCATGAGCGTGCATTTGTGTGTGAGCGTGCATTTGTGTGAGCATGCATTTGCTTGTGTGTGTGTGTGTTATCGTGCATGTGTGCATCCCCGCATGTAGGGAAGGTGGCAGAGTGCCGATGTGAGAAGCCACGGCCGGCGGGGAAGACATGCGCTGTGACTGACACACACGTGTGCTGGAGACCTGCTCTGTGGCAAGGCAGTGCTGGTGTAGAGCGGAGCCCTTGGCCCAGCAGAGCTTGCTGTGTGGTTTCTTCAGTGCTGCCGTCGCTGTGCCGTCTATATGTGTTGTGGTCTTTAATGTTTAATAATTGGCACTGTCAGAATTTTGTCTTTTAAACATACCAAGAAATAAATAAAGGAAGTAGAAGATGGAAGGGGAAGTGGAGGGCTGGACAATGTCTACAAGTGTTGGGGAGCCAGGGACTGGGTGTGGCCCCTGGCAGGGAGGCAGGCCGACTGCAGCCCTGTGGATGCCCTGGGGGGACCTGCATCTGGGGCCCCCAGATCTACCCTGGGGACCTGAGTGCGAGGAGTTGTGTGGGCCACAGGCAGGAGTGGCCAGGGTCTGGGAAAGGACTGGGTTTTGTCCTGCAGTGCCTGGGCCTCACCAATGCGGCCGGACTCGGTGATCTCGTTGAGGGCCCGGAGCAGGTCGCCACCTAGCTTCTTGACATTCCTGAGGTCATCAAGCATGGAGTAGGAGAGGTCCATCAGATAGTACAGGTCGATGGGGTAGCCCTTGGCCCGCCGGAAGGTCACGTTGAACGCTGCTGCCTGGCCTGCCGGTGGGGACAGAACAAAAGGAGCCACACCTCACATCTCACACAGGGTGTCTGGGGGCGTGTGGCCCCGAGCGGGCTGTGCACTGGCACCCTCTCCTCCAGCCCCCAAATCCTCCTGACCTCCCCTCTCCCCGCCTGGCAGGAGAGCTGAGGACCAGACACAGGACATCCAGGCAGGCTGGAGTTTCAGAGGAAGGACATGACTCCCG
Task1_train_28467
Gene ITGB2 (integrin subunit beta 2) on Chromosome 21 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Leukocyte adhesion deficiency 1
GTGACCAGTGGTTGCCTCTCGGCCCACGGCTGATCCCAGCCAGAAGTCCTGGCCCCTCTGAGCCATTGAGATGCCTCCGCAGAGAGGCTCATCCTAACCCGTGCATCCTGGGCTCCTTCTCGCCTCTGTCCCTCCCTGCATGTTCCTCATGGTCCCCGCAGCCGCTCACCCAGCTCAGGCAATGGGGGCAGGGAGGGGCCACACTGGAGGAGGCGGACTCAGGGGCAGCAGGGAACGTACAGTGGAGGCCGGGAGGGGGAGGAGGCGGATGCTTGGGGATGGGACCCTGGCCAGAGGCGGGGACGGCAGGGTGCAGCCGTAGCCTGGGGGCGGTTACTATACCTCCACAGCAGCTGTCAGCCCAGGTAGGGGGGCAGTGGGGCTGGAGACCAACAGAGCCTGGGTGTCCCACAAGGGCGAGGCCGGGCCTCAGCCTGGCTGCCCCCACCAACCCTACCCTCCCCTGGCCTGAGGCCAGTCCGGGGAGACCCCACGCTGCCACTTGGGGCTTCCAGAAGTTTCCTCAGGAATCTGCTCCTTGGGTCAGAAGGAGGCTCTGTCAGGTGGAGACCCCACCCTTGTCTCCTCCGTCAGTGGTGTCCTGCCAGGCGGTGCCTGGGTGCCTGGGGTGGGGACTTACGAATTCGTTGCTCCTCTTGTACAAGTTGTCCTCCAGGTGACAGCGGCCGTCGTTGGGGGTCAGGATGGCGCCCAGCTTCCCGTCGCCCGCGAAATGGAAGCCGTCATCAGTGGCAAACACCAGCAGCCGCGTGACGTTGCGCCAGCCGATTTCCTCCTGAGAAGAAGGCGTGGGGGGCAGGGTTACCTGCCTCAGTTTCCCAGACCCGGCCCTCTGGAGCAGAGGAGACGATGCAGAGCTGGTGGGGTGGCCCGGAGGCTGGTGTGGGTCCCCCTTTCCCCTGGGTCTCAGGGACCCAGCTGTGTTCCCCCAGACGCCACGCCCAGGAGGAGACAACGGCCCTCAAACACCCCGTGCACATGTGAGGCGCAGGGAGTGGAGGCACGTGTGGAAAGGCAAGGAGAGAGACACGGCTGCGGTCCCTGCACTTCAGAGCTGGGAACAAACCCTCAGGAAACCATCCCCAAGGGGAAAAACCCTCGCAGACGTGTGGGCCACACGCAGAACGAGTGCAACATGGAGGAAAACGAGCCTGAGGGGCCCAGCAGGCCTTGAGTCCACCATTGACAGCCCCTGGCAGGCGCATGTGGGGGCCGTGCGTGTCCTAGGCTGTGACCTCACACTCGTGAGCAGTGTGTCTGCGCTGGGACTGCAGGGAAGCAGGAGAGCTAAGGTGGGTTGTGAGGGGAGGACAGTGCATGTGGCCTCAACATGGCCCAGGGACTGTGGCTGCTCTGTTAGGCTGACAGTCACAAACTGGGTGGGCGGGACGTGGAGAGCGACACACACTGGGCAGCCAGCGCCCACCCGGCCTGGAGGGAGGAGGGTGGTTCCACCCCAGGAACCACGGGACCTGCTGCCTAGCGGCCCTGTTCCACCCTTGGCCGCTCGCAAAATGTTTAGGCTTCATAAGGTTTGCCCAGGGTCACAAATTTAACTCACAGCAAACAATGAAATCAGCGCATGATTTTCGAGCCCTCGTGGTCACCCTCCCTTCCTCCTGCCCTTTCCTGCATGGGCAGCAGCAGGGTGAGGAGCTGCTCTCCCCAGGCCCAGGCTGGAGTCCCTCAGACGACCTGCCGGCCAGGGTACCCCCCTGCCCCCACACAGCGCCTGACAGAGCCCCCCACACTGGGGGAACGTGGGGACCCAAGCAGGGGCAGCGGCCTCACCGGGCAGGCGGCGACCTGCATCATGGCGTCCAGCCCACCCTCGGGTGCATCCAGGTTTCCGGAAATCAGCTGCTTCCCGACCTCGGTCTGAAACTGGTTGGAGTTGTTGGTCAGCTTCAGCACGTGCCTGAAGGCAAACGGGGGCTGGCACTCTTTCTCCTTGTTGGGGCATGGGTTTCGCAGCTTATCAGGGTGCGTGTTCACGAACGGCAGCACGGTCTTGTCCACGAAGGACCCGAAGCCTGCAGGGCACATGGAGGGGCTGGGGAGGTGGCAGGCTGGGCCCAGGTGGGAGGGCCAGCTTCAAAGGGGCACGAGGGCAAGCCTGTTTCCTCTCTCCTAGCAGGGAGGTGGAGAAAGCAAGATGGCACATGTGGAGTGTGTGTGTGAGCATGTGCGTTGTGCAAGCACACATGTGAACGTATGTGGGCGTGTGTGTGAACCTGGGAGTGTGCAATGTACATGGATGAGCATAAGTGTATGCATGTGTGTTCCTGCATGTATGTGTGTGACCAGGTATACATGTGGGCATGTGAACAGGTGCGTATGTGTATCTGTGTGTGCAGCCATCTGCATGTGTAAACATGAGTGTGTACATGCGTAGCACAACTGTGTGTGCACGTATTCCTGTATGCATGTGAGCATGTTCAGGTATGGACACACCTAGTTCACGTAGGTGACCAGGTACATATGTGGGCATGTGTGTTTATGTACGATTTATACATGTGAGTGAAGACATACATGGGTGATCATGAGTGTGCATGTGAGCATGTCTGTGTGCACATGTGGTCTTGCACGTGTGTATGACTGTGTGTGCATGTGTGTGCACATGCAAGTGTGAGCATGCATTCATGTGTGTGAGCATGCATTTGTGTGTGAGCGTGCATTCACGTGTGTGAGCGTGCATTTGTGCATGTGAGCATACATTCGCGTGTGTGAGCATGCATTTGCGTGTGAGCATACATTCATGTGTGAGCATACATTCACATGTGAGAGCATGCATTTGTGTGTTTGAGCATGTGTGTGAGCATACATTCACGTGTGTGAGCATGCATTCACGTGTGTGTGCATTTGAGTTTGGGTGTGCTTTTGTGTGTGAGCATGCATTCGCGTGTGTGAGCATCCATTTGTGCATGTGAGGATACATTCATGTGTGAGTGTGCATTCGCATGTGTGAGCGTGCATTTGCGTTTGAGCATGCATTTGTGTGTGAGTGTGCATTGCATGTGTGAACATGCATTTGTGTGTGAGCGTGCATTCACGTGCATGAGCGTGCATTTGTGTGTGAGCGTGCATTTGTGTGAGCATGCATTTGCTTGTGTGTGTGTGTGTTATCGTGCATGTGTGCATCCCCGCATGTAGGGAAGGTGGCAGAGTGCCGATGTGAGAAGCCACGGCCGGCGGGGAAGACATGCGCTGTGACTGACACACACGTGTGCTGGAGACCTGCTCTGTGGCAAGGCAGTGCTGGTGTAGAGCGGAGCCCTTGGCCCAGCAGAGCTTGCTGTGTGGTTTCTTCAGTGCTGCCGTCGCTGTGCCGTCTATATGTGTTGTGGTCTTTAATGTTTAATAATTGGCACTGTCAGAATTTTGTCTTTTAAACATACCAAGAAATAAATAAAGGAAGTAGAAGATGGAAGGGGAAGTGGAGGGCTGGACAATGTCTACAAGTGTTGGGGAGCCAGGGACTGGGTGTGGCCCCTGGCAGGGAGGCAGGCCGACTGCAGCCCTGTGGATGCCCTGGGGGGACCTGCATCTGGGGCCCCCAGATCTACCCTGGGGACCTGAGTGCGAGGAGTTGTGTGGGCCACAGGCAGGAGTGGCCAGGGTCTGGGAAAGGACTGGGTTTTGTCCTGCAGTGCCTGGGCCTCACCAATGCGGCCGGACTCGGTGATCTCGTTGAGGGCCCGGAGCAGGTCGCCACCTAGCTTCTTGACATTCCTGAGGTCATCAAGCATGGAGTAGGAGAGGTCCATCAGATAGTACAGGTCGATGGGGTAGCCCTTGGCCCGCCGGAAGGTCACGTTGAACGCTGCTGCCTGGCCTGCCGGTGGGGACAGAACAAAAGGAGCCACACCTCACATCTCACACAGGGTGTCTGGGGGCGTGTGGCCCCGAGCGGGCTGTGCACTGGCACCCTCTCCTCCAGCCCCCAAATCCTCCTGACCTCCCCTCTCCCCGCCTGGCAGGAGAGCTGAGGACCAGACACAGGACATCCAGGCAGGCTGGAGTTTCAGAGGAAGGACATGACTCCCGGACGCAGGCATGTGCCTCGCAGTGACAC
GTGACCAGTGGTTGCCTCTCGGCCCACGGCTGATCCCAGCCAGAAGTCCTGGCCCCTCTGAGCCATTGAGATGCCTCCGCAGAGAGGCTCATCCTAACCCGTGCATCCTGGGCTCCTTCTCGCCTCTGTCCCTCCCTGCATGTTCCTCATGGTCCCCGCAGCCGCTCACCCAGCTCAGGCAATGGGGGCAGGGAGGGGCCACACTGGAGGAGGCGGACTCAGGGGCAGCAGGGAACGTACAGTGGAGGCCGGGAGGGGGAGGAGGCGGATGCTTGGGGATGGGACCCTGGCCAGAGGCGGGGACGGCAGGGTGCAGCCGTAGCCTGGGGGCGGTTACTATACCTCCACAGCAGCTGTCAGCCCAGGTAGGGGGGCAGTGGGGCTGGAGACCAACAGAGCCTGGGTGTCCCACAAGGGCGAGGCCGGGCCTCAGCCTGGCTGCCCCCACCAACCCTACCCTCCCCTGGCCTGAGGCCAGTCCGGGGAGACCCCACGCTGCCACTTGGGGCTTCCAGAAGTTTCCTCAGGAATCTGCTCCTTGGGTCAGAAGGAGGCTCTGTCAGGTGGAGACCCCACCCTTGTCTCCTCCGTCAGTGGTGTCCTGCCAGGCGGTGCCTGGGTGCCTGGGGTGGGGACTTACGAATTCGTTGCTCCTCTTGTACAAGTTGTCCTCCAGGTGACAGCGGCCGTCGTTGGGGGTCAGGATGGCGCCCAGCTTCCCGTCGCCCGCGAAATGGAAGCCGTCATCAGTGGCAAACACCAGCAGCCGCGTGACGTTGCGCCAGCCGATTTCCTCCTGAGAAGAAGGCGTGGGGGGCAGGGTTACCTGCCTCAGTTTCCCAGACCCGGCCCTCTGGAGCAGAGGAGACGATGCAGAGCTGGTGGGGTGGCCCGGAGGCTGGTGTGGGTCCCCCTTTCCCCTGGGTCTCAGGGACCCAGCTGTGTTCCCCCAGACGCCACGCCCAGGAGGAGACAACGGCCCTCAAACACCCCGTGCACATGTGAGGCGCAGGGAGTGGAGGCACGTGTGGAAAGGCAAGGAGAGAGACACGGCTGCGGTCCCTGCACTTCAGAGCTGGGAACAAACCCTCAGGAAACCATCCCCAAGGGGAAAAACCCTCGCAGACGTGTGGGCCACACGCAGAACGAGTGCAACATGGAGGAAAACGAGCCTGAGGGGCCCAGCAGGCCTTGAGTCCACCATTGACAGCCCCTGGCAGGCGCATGTGGGGGCCGTGCGTGTCCTAGGCTGTGACCTCACACTCGTGAGCAGTGTGTCTGCGCTGGGACTGCAGGGAAGCAGGAGAGCTAAGGTGGGTTGTGAGGGGAGGACAGTGCATGTGGCCTCAACATGGCCCAGGGACTGTGGCTGCTCTGTTAGGCTGACAGTCACAAACTGGGTGGGCGGGACGTGGAGAGCGACACACACTGGGCAGCCAGCGCCCACCCGGCCTGGAGGGAGGAGGGTGGTTCCACCCCAGGAACCACGGGACCTGCTGCCTAGCGGCCCTGTTCCACCCTTGGCCGCTCGCAAAATGTTTAGGCTTCATAAGGTTTGCCCAGGGTCACAAATTTAACTCACAGCAAACAATGAAATCAGCGCATGATTTTCGAGCCCTCGTGGTCACCCTCCCTTCCTCCTGCCCTTTCCTGCATGGGCAGCAGCAGGGTGAGGAGCTGCTCTCCCCAGGCCCAGGCTGGAGTCCCTCAGACGACCTGCCGGCCAGGGTACCCCCCTGCCCCCACACAGCGCCTGACAGAGCCCCCCACACTGGGGGAACGTGGGGACCCAAGCAGGGGCAGCGGCCTCACCGGGCAGGCGGCGACCTGCATCATGGCGTCCAGCCCACCCTCGGGTGCATCCAGGTTTCCGGAAATCAGCTGCTTCCCGACCTCGGTCTGAAACTGGTTGGAGTTGTTGGTCAGCTTCAGCACGTGCCTGAAGGCAAACGGGGGCTGGCACTCTTTCTCCTTGTTGGGGCATGGGTTTCGCAGCTTATCAGGGTGCGTGTTCACGAACGGCAGCACGGTCTTGTCCACGAAGGACCTGAAGCCTGCAGGGCACATGGAGGGGCTGGGGAGGTGGCAGGCTGGGCCCAGGTGGGAGGGCCAGCTTCAAAGGGGCACGAGGGCAAGCCTGTTTCCTCTCTCCTAGCAGGGAGGTGGAGAAAGCAAGATGGCACATGTGGAGTGTGTGTGTGAGCATGTGCGTTGTGCAAGCACACATGTGAACGTATGTGGGCGTGTGTGTGAACCTGGGAGTGTGCAATGTACATGGATGAGCATAAGTGTATGCATGTGTGTTCCTGCATGTATGTGTGTGACCAGGTATACATGTGGGCATGTGAACAGGTGCGTATGTGTATCTGTGTGTGCAGCCATCTGCATGTGTAAACATGAGTGTGTACATGCGTAGCACAACTGTGTGTGCACGTATTCCTGTATGCATGTGAGCATGTTCAGGTATGGACACACCTAGTTCACGTAGGTGACCAGGTACATATGTGGGCATGTGTGTTTATGTACGATTTATACATGTGAGTGAAGACATACATGGGTGATCATGAGTGTGCATGTGAGCATGTCTGTGTGCACATGTGGTCTTGCACGTGTGTATGACTGTGTGTGCATGTGTGTGCACATGCAAGTGTGAGCATGCATTCATGTGTGTGAGCATGCATTTGTGTGTGAGCGTGCATTCACGTGTGTGAGCGTGCATTTGTGCATGTGAGCATACATTCGCGTGTGTGAGCATGCATTTGCGTGTGAGCATACATTCATGTGTGAGCATACATTCACATGTGAGAGCATGCATTTGTGTGTTTGAGCATGTGTGTGAGCATACATTCACGTGTGTGAGCATGCATTCACGTGTGTGTGCATTTGAGTTTGGGTGTGCTTTTGTGTGTGAGCATGCATTCGCGTGTGTGAGCATCCATTTGTGCATGTGAGGATACATTCATGTGTGAGTGTGCATTCGCATGTGTGAGCGTGCATTTGCGTTTGAGCATGCATTTGTGTGTGAGTGTGCATTGCATGTGTGAACATGCATTTGTGTGTGAGCGTGCATTCACGTGCATGAGCGTGCATTTGTGTGTGAGCGTGCATTTGTGTGAGCATGCATTTGCTTGTGTGTGTGTGTGTTATCGTGCATGTGTGCATCCCCGCATGTAGGGAAGGTGGCAGAGTGCCGATGTGAGAAGCCACGGCCGGCGGGGAAGACATGCGCTGTGACTGACACACACGTGTGCTGGAGACCTGCTCTGTGGCAAGGCAGTGCTGGTGTAGAGCGGAGCCCTTGGCCCAGCAGAGCTTGCTGTGTGGTTTCTTCAGTGCTGCCGTCGCTGTGCCGTCTATATGTGTTGTGGTCTTTAATGTTTAATAATTGGCACTGTCAGAATTTTGTCTTTTAAACATACCAAGAAATAAATAAAGGAAGTAGAAGATGGAAGGGGAAGTGGAGGGCTGGACAATGTCTACAAGTGTTGGGGAGCCAGGGACTGGGTGTGGCCCCTGGCAGGGAGGCAGGCCGACTGCAGCCCTGTGGATGCCCTGGGGGGACCTGCATCTGGGGCCCCCAGATCTACCCTGGGGACCTGAGTGCGAGGAGTTGTGTGGGCCACAGGCAGGAGTGGCCAGGGTCTGGGAAAGGACTGGGTTTTGTCCTGCAGTGCCTGGGCCTCACCAATGCGGCCGGACTCGGTGATCTCGTTGAGGGCCCGGAGCAGGTCGCCACCTAGCTTCTTGACATTCCTGAGGTCATCAAGCATGGAGTAGGAGAGGTCCATCAGATAGTACAGGTCGATGGGGTAGCCCTTGGCCCGCCGGAAGGTCACGTTGAACGCTGCTGCCTGGCCTGCCGGTGGGGACAGAACAAAAGGAGCCACACCTCACATCTCACACAGGGTGTCTGGGGGCGTGTGGCCCCGAGCGGGCTGTGCACTGGCACCCTCTCCTCCAGCCCCCAAATCCTCCTGACCTCCCCTCTCCCCGCCTGGCAGGAGAGCTGAGGACCAGACACAGGACATCCAGGCAGGCTGGAGTTTCAGAGGAAGGACATGACTCCCGGACGCAGGCATGTGCCTCGCAGTGACAC
Task1_train_28468
The variant affects gene ITGB2 (integrin subunit beta 2), which is on Chromosome 21. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Leukocyte adhesion deficiency 1
GCCCAGGCTGGAGTCCCTCAGACGACCTGCCGGCCAGGGTACCCCCCTGCCCCCACACAGCGCCTGACAGAGCCCCCCACACTGGGGGAACGTGGGGACCCAAGCAGGGGCAGCGGCCTCACCGGGCAGGCGGCGACCTGCATCATGGCGTCCAGCCCACCCTCGGGTGCATCCAGGTTTCCGGAAATCAGCTGCTTCCCGACCTCGGTCTGAAACTGGTTGGAGTTGTTGGTCAGCTTCAGCACGTGCCTGAAGGCAAACGGGGGCTGGCACTCTTTCTCCTTGTTGGGGCATGGGTTTCGCAGCTTATCAGGGTGCGTGTTCACGAACGGCAGCACGGTCTTGTCCACGAAGGACCCGAAGCCTGCAGGGCACATGGAGGGGCTGGGGAGGTGGCAGGCTGGGCCCAGGTGGGAGGGCCAGCTTCAAAGGGGCACGAGGGCAAGCCTGTTTCCTCTCTCCTAGCAGGGAGGTGGAGAAAGCAAGATGGCACATGTGGAGTGTGTGTGTGAGCATGTGCGTTGTGCAAGCACACATGTGAACGTATGTGGGCGTGTGTGTGAACCTGGGAGTGTGCAATGTACATGGATGAGCATAAGTGTATGCATGTGTGTTCCTGCATGTATGTGTGTGACCAGGTATACATGTGGGCATGTGAACAGGTGCGTATGTGTATCTGTGTGTGCAGCCATCTGCATGTGTAAACATGAGTGTGTACATGCGTAGCACAACTGTGTGTGCACGTATTCCTGTATGCATGTGAGCATGTTCAGGTATGGACACACCTAGTTCACGTAGGTGACCAGGTACATATGTGGGCATGTGTGTTTATGTACGATTTATACATGTGAGTGAAGACATACATGGGTGATCATGAGTGTGCATGTGAGCATGTCTGTGTGCACATGTGGTCTTGCACGTGTGTATGACTGTGTGTGCATGTGTGTGCACATGCAAGTGTGAGCATGCATTCATGTGTGTGAGCATGCATTTGTGTGTGAGCGTGCATTCACGTGTGTGAGCGTGCATTTGTGCATGTGAGCATACATTCGCGTGTGTGAGCATGCATTTGCGTGTGAGCATACATTCATGTGTGAGCATACATTCACATGTGAGAGCATGCATTTGTGTGTTTGAGCATGTGTGTGAGCATACATTCACGTGTGTGAGCATGCATTCACGTGTGTGTGCATTTGAGTTTGGGTGTGCTTTTGTGTGTGAGCATGCATTCGCGTGTGTGAGCATCCATTTGTGCATGTGAGGATACATTCATGTGTGAGTGTGCATTCGCATGTGTGAGCGTGCATTTGCGTTTGAGCATGCATTTGTGTGTGAGTGTGCATTGCATGTGTGAACATGCATTTGTGTGTGAGCGTGCATTCACGTGCATGAGCGTGCATTTGTGTGTGAGCGTGCATTTGTGTGAGCATGCATTTGCTTGTGTGTGTGTGTGTTATCGTGCATGTGTGCATCCCCGCATGTAGGGAAGGTGGCAGAGTGCCGATGTGAGAAGCCACGGCCGGCGGGGAAGACATGCGCTGTGACTGACACACACGTGTGCTGGAGACCTGCTCTGTGGCAAGGCAGTGCTGGTGTAGAGCGGAGCCCTTGGCCCAGCAGAGCTTGCTGTGTGGTTTCTTCAGTGCTGCCGTCGCTGTGCCGTCTATATGTGTTGTGGTCTTTAATGTTTAATAATTGGCACTGTCAGAATTTTGTCTTTTAAACATACCAAGAAATAAATAAAGGAAGTAGAAGATGGAAGGGGAAGTGGAGGGCTGGACAATGTCTACAAGTGTTGGGGAGCCAGGGACTGGGTGTGGCCCCTGGCAGGGAGGCAGGCCGACTGCAGCCCTGTGGATGCCCTGGGGGGACCTGCATCTGGGGCCCCCAGATCTACCCTGGGGACCTGAGTGCGAGGAGTTGTGTGGGCCACAGGCAGGAGTGGCCAGGGTCTGGGAAAGGACTGGGTTTTGTCCTGCAGTGCCTGGGCCTCACCAATGCGGCCGGACTCGGTGATCTCGTTGAGGGCCCGGAGCAGGTCGCCACCTAGCTTCTTGACATTCCTGAGGTCATCAAGCATGGAGTAGGAGAGGTCCATCAGATAGTACAGGTCGATGGGGTAGCCCTTGGCCCGCCGGAAGGTCACGTTGAACGCTGCTGCCTGGCCTGCCGGTGGGGACAGAACAAAAGGAGCCACACCTCACATCTCACACAGGGTGTCTGGGGGCGTGTGGCCCCGAGCGGGCTGTGCACTGGCACCCTCTCCTCCAGCCCCCAAATCCTCCTGACCTCCCCTCTCCCCGCCTGGCAGGAGAGCTGAGGACCAGACACAGGACATCCAGGCAGGCTGGAGTTTCAGAGGAAGGACATGACTCCCGGACGCAGGCATGTGCCTCGCAGTGACACTGAAACCCGCCTGGGGTGCTTAGAGTTGACGCCAGCGACATTGGGGACGCCTTTCATTGAGAGTGGCAGCGGCTCACCTGGGCTCACACCTAACCCGGCCCCATGCCTGCAGTCCCACGGGCGCCCTCATCAGCAGCCACATAGACAGGCATCACACGAACCTGGCACTTCCCAGCAAGGCCCACGCGGGCCGTCCCCAGGAGGCCCCTTTCTCCATCCCAGCCCTGGACTTCCGCTCGCCCGCGTCTCAGTCACACGTGCGGTTGTGTAGCTGTCTGTTTACCTGTCACCGCAACCAGCCTGTGTCCCTGGCTCCCAGAACCGTGCCTGGTACAAGTCAGCTCTCCATAAACACACATCATGTTAATGAATGAGCAGGGAGGGAGGGTGACGAAGCCTGTCCCCTCTGCCCCACCCTCCAGCCTTCAGCCCCCCTGGGCGGCAGGACAAGTGCAGAGCCCACTCCACCCCCAACCTGCCTGCTGCCACACCCTGGGAGAAAGGGTATGTGCCCCTCCTCACAGACACACACACACGCACTCCTACACATAAATACACCACATGCACACACAGTCACACATGGCATACACACCCACATATATGCACACACACAATACTCACACACAAATATAACTCATGCACACACAGTCACACGTAGCACACACGCACCCACATATACACGCACATGGCACCCACACACAGCAAACACACCACAAATATGCACACACACCACAAACACCAACCACCACACATGCACGCATACACACACACCTCACACTCATACACAACACCAGACACAAAGCACACATACTATATGTACTTGTTCATATACACAAACACACCACATGCACGCACACACACTCGCACACACATACACACACCAAACACACACACATGCACTCACGCACATACACCACACACATGCACTCACATACACATGCATGCCACACACATATACACATGCCACACACATGCATTCACACCCATACACACACGTGCCACACATATACACACACCCCACACAATGCTAAACACATACATACCACACACACCATGCATACACACACACCACACACACATGCGCTCACACACACACACACTCACCCACATTCACACCCGGCACTCCTGGCCCTGGCCCTCGCCCTGCTGTGCCTTGCAGCCCTCAGAGGCTTCACTTGGCCTCTGGGCCAAGGACCCCAATCACTTTCTATGAAGGGCCAGACAGTAAATGTGTTTGGCTTTGGGGGCCGTGCGGCGTCTGCAGCGACATGGAGGAGGCAGCCAAGACCATGTCCCCACGAGCAATGTGGCCATGCTGCAGTCAAAGGGCACAGACATAGGCCTTTGGTGGCTGACCAAGGGGCCCCGTCCCTTCCCTTCCAGAGTAGAGGCTCAGCGAAGGGCCAGCAGGCTGCGGGGGTAGGGCCAGGACCCCGCGAGAGGACAGTCCCTTCCCAGATCCTGCCGCCCTGCTCTGGGAGCCTGTGGCCCTGGGGTGCTGTTAAGATCTCTCCCTGGTGCTCACCCGAGTTTGCCTACCCTCACCTGCATCCACCCGAGCTCACCTGTGCCCTCCCAGAGGCCACAGCATTTGCCCCCTGCACAGTGGGGATGCATGCCAGGCCGTGGGCAGCCACTCCCCCACCCTTCCCCACGGCACAAGGATGCCCCCACTCAGGCGCACCCCCAC
GCCCAGGCTGGAGTCCCTCAGACGACCTGCCGGCCAGGGTACCCCCCTGCCCCCACACAGCGCCTGACAGAGCCCCCCACACTGGGGGAACGTGGGGACCCAAGCAGGGGCAGCGGCCTCACCGGGCAGGCGGCGACCTGCATCATGGCGTCCAGCCCACCCTCGGGTGCATCCAGGTTTCCGGAAATCAGCTGCTTCCCGACCTCGGTCTGAAACTGGTTGGAGTTGTTGGTCAGCTTCAGCACGTGCCTGAAGGCAAACGGGGGCTGGCACTCTTTCTCCTTGTTGGGGCATGGGTTTCGCAGCTTATCAGGGTGCGTGTTCACGAACGGCAGCACGGTCTTGTCCACGAAGGACCCGAAGCCTGCAGGGCACATGGAGGGGCTGGGGAGGTGGCAGGCTGGGCCCAGGTGGGAGGGCCAGCTTCAAAGGGGCACGAGGGCAAGCCTGTTTCCTCTCTCCTAGCAGGGAGGTGGAGAAAGCAAGATGGCACATGTGGAGTGTGTGTGTGAGCATGTGCGTTGTGCAAGCACACATGTGAACGTATGTGGGCGTGTGTGTGAACCTGGGAGTGTGCAATGTACATGGATGAGCATAAGTGTATGCATGTGTGTTCCTGCATGTATGTGTGTGACCAGGTATACATGTGGGCATGTGAACAGGTGCGTATGTGTATCTGTGTGTGCAGCCATCTGCATGTGTAAACATGAGTGTGTACATGCGTAGCACAACTGTGTGTGCACGTATTCCTGTATGCATGTGAGCATGTTCAGGTATGGACACACCTAGTTCACGTAGGTGACCAGGTACATATGTGGGCATGTGTGTTTATGTACGATTTATACATGTGAGTGAAGACATACATGGGTGATCATGAGTGTGCATGTGAGCATGTCTGTGTGCACATGTGGTCTTGCACGTGTGTATGACTGTGTGTGCATGTGTGTGCACATGCAAGTGTGAGCATGCATTCATGTGTGTGAGCATGCATTTGTGTGTGAGCGTGCATTCACGTGTGTGAGCGTGCATTTGTGCATGTGAGCATACATTCGCGTGTGTGAGCATGCATTTGCGTGTGAGCATACATTCATGTGTGAGCATACATTCACATGTGAGAGCATGCATTTGTGTGTTTGAGCATGTGTGTGAGCATACATTCACGTGTGTGAGCATGCATTCACGTGTGTGTGCATTTGAGTTTGGGTGTGCTTTTGTGTGTGAGCATGCATTCGCGTGTGTGAGCATCCATTTGTGCATGTGAGGATACATTCATGTGTGAGTGTGCATTCGCATGTGTGAGCGTGCATTTGCGTTTGAGCATGCATTTGTGTGTGAGTGTGCATTGCATGTGTGAACATGCATTTGTGTGTGAGCGTGCATTCACGTGCATGAGCGTGCATTTGTGTGTGAGCGTGCATTTGTGTGAGCATGCATTTGCTTGTGTGTGTGTGTGTTATCGTGCATGTGTGCATCCCCGCATGTAGGGAAGGTGGCAGAGTGCCGATGTGAGAAGCCACGGCCGGCGGGGAAGACATGCGCTGTGACTGACACACACGTGTGCTGGAGACCTGCTCTGTGGCAAGGCAGTGCTGGTGTAGAGCGGAGCCCTTGGCCCAGCAGAGCTTGCTGTGTGGTTTCTTCAGTGCTGCCGTCGCTGTGCCGTCTATATGTGTTGTGGTCTTTAATGTTTAATAATTGGCACTGTCAGAATTTTGTCTTTTAAACATACCAAGAAATAAATAAAGGAAGTAGAAGATGGAAGGGGAAGTGGAGGGCTGGACAATGTCTACAAGTGTTGGGGAGCCAGGGACTGGGTGTGGCCCCTGGCAGGGAGGCAGGCCGACTGCAGCCCTGTGGATGCCCTGGGGGGACCTGCATCTGGGGCCCCCAGATCTACCCTGGGGACCTGAGTGCGAGGAGTTGTGTGGGCCACAGGCAGGAGTGGCCAGGGTCTGGGAAAGGACTGGGTTTTGTCCTGCAGTGCCTGGGCCTCACCAATGCGGCCGGACTCGGTGATCTCGTTGAGGGCCCGGAGCAGGTCGCCACCTGGCTTCTTGACATTCCTGAGGTCATCAAGCATGGAGTAGGAGAGGTCCATCAGATAGTACAGGTCGATGGGGTAGCCCTTGGCCCGCCGGAAGGTCACGTTGAACGCTGCTGCCTGGCCTGCCGGTGGGGACAGAACAAAAGGAGCCACACCTCACATCTCACACAGGGTGTCTGGGGGCGTGTGGCCCCGAGCGGGCTGTGCACTGGCACCCTCTCCTCCAGCCCCCAAATCCTCCTGACCTCCCCTCTCCCCGCCTGGCAGGAGAGCTGAGGACCAGACACAGGACATCCAGGCAGGCTGGAGTTTCAGAGGAAGGACATGACTCCCGGACGCAGGCATGTGCCTCGCAGTGACACTGAAACCCGCCTGGGGTGCTTAGAGTTGACGCCAGCGACATTGGGGACGCCTTTCATTGAGAGTGGCAGCGGCTCACCTGGGCTCACACCTAACCCGGCCCCATGCCTGCAGTCCCACGGGCGCCCTCATCAGCAGCCACATAGACAGGCATCACACGAACCTGGCACTTCCCAGCAAGGCCCACGCGGGCCGTCCCCAGGAGGCCCCTTTCTCCATCCCAGCCCTGGACTTCCGCTCGCCCGCGTCTCAGTCACACGTGCGGTTGTGTAGCTGTCTGTTTACCTGTCACCGCAACCAGCCTGTGTCCCTGGCTCCCAGAACCGTGCCTGGTACAAGTCAGCTCTCCATAAACACACATCATGTTAATGAATGAGCAGGGAGGGAGGGTGACGAAGCCTGTCCCCTCTGCCCCACCCTCCAGCCTTCAGCCCCCCTGGGCGGCAGGACAAGTGCAGAGCCCACTCCACCCCCAACCTGCCTGCTGCCACACCCTGGGAGAAAGGGTATGTGCCCCTCCTCACAGACACACACACACGCACTCCTACACATAAATACACCACATGCACACACAGTCACACATGGCATACACACCCACATATATGCACACACACAATACTCACACACAAATATAACTCATGCACACACAGTCACACGTAGCACACACGCACCCACATATACACGCACATGGCACCCACACACAGCAAACACACCACAAATATGCACACACACCACAAACACCAACCACCACACATGCACGCATACACACACACCTCACACTCATACACAACACCAGACACAAAGCACACATACTATATGTACTTGTTCATATACACAAACACACCACATGCACGCACACACACTCGCACACACATACACACACCAAACACACACACATGCACTCACGCACATACACCACACACATGCACTCACATACACATGCATGCCACACACATATACACATGCCACACACATGCATTCACACCCATACACACACGTGCCACACATATACACACACCCCACACAATGCTAAACACATACATACCACACACACCATGCATACACACACACCACACACACATGCGCTCACACACACACACACTCACCCACATTCACACCCGGCACTCCTGGCCCTGGCCCTCGCCCTGCTGTGCCTTGCAGCCCTCAGAGGCTTCACTTGGCCTCTGGGCCAAGGACCCCAATCACTTTCTATGAAGGGCCAGACAGTAAATGTGTTTGGCTTTGGGGGCCGTGCGGCGTCTGCAGCGACATGGAGGAGGCAGCCAAGACCATGTCCCCACGAGCAATGTGGCCATGCTGCAGTCAAAGGGCACAGACATAGGCCTTTGGTGGCTGACCAAGGGGCCCCGTCCCTTCCCTTCCAGAGTAGAGGCTCAGCGAAGGGCCAGCAGGCTGCGGGGGTAGGGCCAGGACCCCGCGAGAGGACAGTCCCTTCCCAGATCCTGCCGCCCTGCTCTGGGAGCCTGTGGCCCTGGGGTGCTGTTAAGATCTCTCCCTGGTGCTCACCCGAGTTTGCCTACCCTCACCTGCATCCACCCGAGCTCACCTGTGCCCTCCCAGAGGCCACAGCATTTGCCCCCTGCACAGTGGGGATGCATGCCAGGCCGTGGGCAGCCACTCCCCCACCCTTCCCCACGGCACAAGGATGCCCCCACTCAGGCGCACCCCCAC
Task1_train_28469
Gene ITGB2 (integrin subunit beta 2), found on Chromosome 21, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Leukocyte adhesion deficiency 1
CAGGGTACCCCCCTGCCCCCACACAGCGCCTGACAGAGCCCCCCACACTGGGGGAACGTGGGGACCCAAGCAGGGGCAGCGGCCTCACCGGGCAGGCGGCGACCTGCATCATGGCGTCCAGCCCACCCTCGGGTGCATCCAGGTTTCCGGAAATCAGCTGCTTCCCGACCTCGGTCTGAAACTGGTTGGAGTTGTTGGTCAGCTTCAGCACGTGCCTGAAGGCAAACGGGGGCTGGCACTCTTTCTCCTTGTTGGGGCATGGGTTTCGCAGCTTATCAGGGTGCGTGTTCACGAACGGCAGCACGGTCTTGTCCACGAAGGACCCGAAGCCTGCAGGGCACATGGAGGGGCTGGGGAGGTGGCAGGCTGGGCCCAGGTGGGAGGGCCAGCTTCAAAGGGGCACGAGGGCAAGCCTGTTTCCTCTCTCCTAGCAGGGAGGTGGAGAAAGCAAGATGGCACATGTGGAGTGTGTGTGTGAGCATGTGCGTTGTGCAAGCACACATGTGAACGTATGTGGGCGTGTGTGTGAACCTGGGAGTGTGCAATGTACATGGATGAGCATAAGTGTATGCATGTGTGTTCCTGCATGTATGTGTGTGACCAGGTATACATGTGGGCATGTGAACAGGTGCGTATGTGTATCTGTGTGTGCAGCCATCTGCATGTGTAAACATGAGTGTGTACATGCGTAGCACAACTGTGTGTGCACGTATTCCTGTATGCATGTGAGCATGTTCAGGTATGGACACACCTAGTTCACGTAGGTGACCAGGTACATATGTGGGCATGTGTGTTTATGTACGATTTATACATGTGAGTGAAGACATACATGGGTGATCATGAGTGTGCATGTGAGCATGTCTGTGTGCACATGTGGTCTTGCACGTGTGTATGACTGTGTGTGCATGTGTGTGCACATGCAAGTGTGAGCATGCATTCATGTGTGTGAGCATGCATTTGTGTGTGAGCGTGCATTCACGTGTGTGAGCGTGCATTTGTGCATGTGAGCATACATTCGCGTGTGTGAGCATGCATTTGCGTGTGAGCATACATTCATGTGTGAGCATACATTCACATGTGAGAGCATGCATTTGTGTGTTTGAGCATGTGTGTGAGCATACATTCACGTGTGTGAGCATGCATTCACGTGTGTGTGCATTTGAGTTTGGGTGTGCTTTTGTGTGTGAGCATGCATTCGCGTGTGTGAGCATCCATTTGTGCATGTGAGGATACATTCATGTGTGAGTGTGCATTCGCATGTGTGAGCGTGCATTTGCGTTTGAGCATGCATTTGTGTGTGAGTGTGCATTGCATGTGTGAACATGCATTTGTGTGTGAGCGTGCATTCACGTGCATGAGCGTGCATTTGTGTGTGAGCGTGCATTTGTGTGAGCATGCATTTGCTTGTGTGTGTGTGTGTTATCGTGCATGTGTGCATCCCCGCATGTAGGGAAGGTGGCAGAGTGCCGATGTGAGAAGCCACGGCCGGCGGGGAAGACATGCGCTGTGACTGACACACACGTGTGCTGGAGACCTGCTCTGTGGCAAGGCAGTGCTGGTGTAGAGCGGAGCCCTTGGCCCAGCAGAGCTTGCTGTGTGGTTTCTTCAGTGCTGCCGTCGCTGTGCCGTCTATATGTGTTGTGGTCTTTAATGTTTAATAATTGGCACTGTCAGAATTTTGTCTTTTAAACATACCAAGAAATAAATAAAGGAAGTAGAAGATGGAAGGGGAAGTGGAGGGCTGGACAATGTCTACAAGTGTTGGGGAGCCAGGGACTGGGTGTGGCCCCTGGCAGGGAGGCAGGCCGACTGCAGCCCTGTGGATGCCCTGGGGGGACCTGCATCTGGGGCCCCCAGATCTACCCTGGGGACCTGAGTGCGAGGAGTTGTGTGGGCCACAGGCAGGAGTGGCCAGGGTCTGGGAAAGGACTGGGTTTTGTCCTGCAGTGCCTGGGCCTCACCAATGCGGCCGGACTCGGTGATCTCGTTGAGGGCCCGGAGCAGGTCGCCACCTAGCTTCTTGACATTCCTGAGGTCATCAAGCATGGAGTAGGAGAGGTCCATCAGATAGTACAGGTCGATGGGGTAGCCCTTGGCCCGCCGGAAGGTCACGTTGAACGCTGCTGCCTGGCCTGCCGGTGGGGACAGAACAAAAGGAGCCACACCTCACATCTCACACAGGGTGTCTGGGGGCGTGTGGCCCCGAGCGGGCTGTGCACTGGCACCCTCTCCTCCAGCCCCCAAATCCTCCTGACCTCCCCTCTCCCCGCCTGGCAGGAGAGCTGAGGACCAGACACAGGACATCCAGGCAGGCTGGAGTTTCAGAGGAAGGACATGACTCCCGGACGCAGGCATGTGCCTCGCAGTGACACTGAAACCCGCCTGGGGTGCTTAGAGTTGACGCCAGCGACATTGGGGACGCCTTTCATTGAGAGTGGCAGCGGCTCACCTGGGCTCACACCTAACCCGGCCCCATGCCTGCAGTCCCACGGGCGCCCTCATCAGCAGCCACATAGACAGGCATCACACGAACCTGGCACTTCCCAGCAAGGCCCACGCGGGCCGTCCCCAGGAGGCCCCTTTCTCCATCCCAGCCCTGGACTTCCGCTCGCCCGCGTCTCAGTCACACGTGCGGTTGTGTAGCTGTCTGTTTACCTGTCACCGCAACCAGCCTGTGTCCCTGGCTCCCAGAACCGTGCCTGGTACAAGTCAGCTCTCCATAAACACACATCATGTTAATGAATGAGCAGGGAGGGAGGGTGACGAAGCCTGTCCCCTCTGCCCCACCCTCCAGCCTTCAGCCCCCCTGGGCGGCAGGACAAGTGCAGAGCCCACTCCACCCCCAACCTGCCTGCTGCCACACCCTGGGAGAAAGGGTATGTGCCCCTCCTCACAGACACACACACACGCACTCCTACACATAAATACACCACATGCACACACAGTCACACATGGCATACACACCCACATATATGCACACACACAATACTCACACACAAATATAACTCATGCACACACAGTCACACGTAGCACACACGCACCCACATATACACGCACATGGCACCCACACACAGCAAACACACCACAAATATGCACACACACCACAAACACCAACCACCACACATGCACGCATACACACACACCTCACACTCATACACAACACCAGACACAAAGCACACATACTATATGTACTTGTTCATATACACAAACACACCACATGCACGCACACACACTCGCACACACATACACACACCAAACACACACACATGCACTCACGCACATACACCACACACATGCACTCACATACACATGCATGCCACACACATATACACATGCCACACACATGCATTCACACCCATACACACACGTGCCACACATATACACACACCCCACACAATGCTAAACACATACATACCACACACACCATGCATACACACACACCACACACACATGCGCTCACACACACACACACTCACCCACATTCACACCCGGCACTCCTGGCCCTGGCCCTCGCCCTGCTGTGCCTTGCAGCCCTCAGAGGCTTCACTTGGCCTCTGGGCCAAGGACCCCAATCACTTTCTATGAAGGGCCAGACAGTAAATGTGTTTGGCTTTGGGGGCCGTGCGGCGTCTGCAGCGACATGGAGGAGGCAGCCAAGACCATGTCCCCACGAGCAATGTGGCCATGCTGCAGTCAAAGGGCACAGACATAGGCCTTTGGTGGCTGACCAAGGGGCCCCGTCCCTTCCCTTCCAGAGTAGAGGCTCAGCGAAGGGCCAGCAGGCTGCGGGGGTAGGGCCAGGACCCCGCGAGAGGACAGTCCCTTCCCAGATCCTGCCGCCCTGCTCTGGGAGCCTGTGGCCCTGGGGTGCTGTTAAGATCTCTCCCTGGTGCTCACCCGAGTTTGCCTACCCTCACCTGCATCCACCCGAGCTCACCTGTGCCCTCCCAGAGGCCACAGCATTTGCCCCCTGCACAGTGGGGATGCATGCCAGGCCGTGGGCAGCCACTCCCCCACCCTTCCCCACGGCACAAGGATGCCCCCACTCAGGCGCACCCCCACCCTCCAGGACGATCCTTCCTGACACCTCCAGCAC
CAGGGTACCCCCCTGCCCCCACACAGCGCCTGACAGAGCCCCCCACACTGGGGGAACGTGGGGACCCAAGCAGGGGCAGCGGCCTCACCGGGCAGGCGGCGACCTGCATCATGGCGTCCAGCCCACCCTCGGGTGCATCCAGGTTTCCGGAAATCAGCTGCTTCCCGACCTCGGTCTGAAACTGGTTGGAGTTGTTGGTCAGCTTCAGCACGTGCCTGAAGGCAAACGGGGGCTGGCACTCTTTCTCCTTGTTGGGGCATGGGTTTCGCAGCTTATCAGGGTGCGTGTTCACGAACGGCAGCACGGTCTTGTCCACGAAGGACCCGAAGCCTGCAGGGCACATGGAGGGGCTGGGGAGGTGGCAGGCTGGGCCCAGGTGGGAGGGCCAGCTTCAAAGGGGCACGAGGGCAAGCCTGTTTCCTCTCTCCTAGCAGGGAGGTGGAGAAAGCAAGATGGCACATGTGGAGTGTGTGTGTGAGCATGTGCGTTGTGCAAGCACACATGTGAACGTATGTGGGCGTGTGTGTGAACCTGGGAGTGTGCAATGTACATGGATGAGCATAAGTGTATGCATGTGTGTTCCTGCATGTATGTGTGTGACCAGGTATACATGTGGGCATGTGAACAGGTGCGTATGTGTATCTGTGTGTGCAGCCATCTGCATGTGTAAACATGAGTGTGTACATGCGTAGCACAACTGTGTGTGCACGTATTCCTGTATGCATGTGAGCATGTTCAGGTATGGACACACCTAGTTCACGTAGGTGACCAGGTACATATGTGGGCATGTGTGTTTATGTACGATTTATACATGTGAGTGAAGACATACATGGGTGATCATGAGTGTGCATGTGAGCATGTCTGTGTGCACATGTGGTCTTGCACGTGTGTATGACTGTGTGTGCATGTGTGTGCACATGCAAGTGTGAGCATGCATTCATGTGTGTGAGCATGCATTTGTGTGTGAGCGTGCATTCACGTGTGTGAGCGTGCATTTGTGCATGTGAGCATACATTCGCGTGTGTGAGCATGCATTTGCGTGTGAGCATACATTCATGTGTGAGCATACATTCACATGTGAGAGCATGCATTTGTGTGTTTGAGCATGTGTGTGAGCATACATTCACGTGTGTGAGCATGCATTCACGTGTGTGTGCATTTGAGTTTGGGTGTGCTTTTGTGTGTGAGCATGCATTCGCGTGTGTGAGCATCCATTTGTGCATGTGAGGATACATTCATGTGTGAGTGTGCATTCGCATGTGTGAGCGTGCATTTGCGTTTGAGCATGCATTTGTGTGTGAGTGTGCATTGCATGTGTGAACATGCATTTGTGTGTGAGCGTGCATTCACGTGCATGAGCGTGCATTTGTGTGTGAGCGTGCATTTGTGTGAGCATGCATTTGCTTGTGTGTGTGTGTGTTATCGTGCATGTGTGCATCCCCGCATGTAGGGAAGGTGGCAGAGTGCCGATGTGAGAAGCCACGGCCGGCGGGGAAGACATGCGCTGTGACTGACACACACGTGTGCTGGAGACCTGCTCTGTGGCAAGGCAGTGCTGGTGTAGAGCGGAGCCCTTGGCCCAGCAGAGCTTGCTGTGTGGTTTCTTCAGTGCTGCCGTCGCTGTGCCGTCTATATGTGTTGTGGTCTTTAATGTTTAATAATTGGCACTGTCAGAATTTTGTCTTTTAAACATACCAAGAAATAAATAAAGGAAGTAGAAGATGGAAGGGGAAGTGGAGGGCTGGACAATGTCTACAAGTGTTGGGGAGCCAGGGACTGGGTGTGGCCCCTGGCAGGGAGGCAGGCCGACTGCAGCCCTGTGGATGCCCTGGGGGGACCTGCATCTGGGGCCCCCAGATCTACCCTGGGGACCTGAGTGCGAGGAGTTGTGTGGGCCACAGGCAGGAGTGGCCAGGGTCTGGGAAAGGACTGGGTTTTGTCCTGCAGTGCCTGGGCCTCACCAATGCGGCCGGACTCGGTGATCTCGTTGAGGGCCCGGAGCAGGTCGCCACCTAGCTTCTTGACATTCCTGAGGTCATCAAGCATGGGGTAGGAGAGGTCCATCAGATAGTACAGGTCGATGGGGTAGCCCTTGGCCCGCCGGAAGGTCACGTTGAACGCTGCTGCCTGGCCTGCCGGTGGGGACAGAACAAAAGGAGCCACACCTCACATCTCACACAGGGTGTCTGGGGGCGTGTGGCCCCGAGCGGGCTGTGCACTGGCACCCTCTCCTCCAGCCCCCAAATCCTCCTGACCTCCCCTCTCCCCGCCTGGCAGGAGAGCTGAGGACCAGACACAGGACATCCAGGCAGGCTGGAGTTTCAGAGGAAGGACATGACTCCCGGACGCAGGCATGTGCCTCGCAGTGACACTGAAACCCGCCTGGGGTGCTTAGAGTTGACGCCAGCGACATTGGGGACGCCTTTCATTGAGAGTGGCAGCGGCTCACCTGGGCTCACACCTAACCCGGCCCCATGCCTGCAGTCCCACGGGCGCCCTCATCAGCAGCCACATAGACAGGCATCACACGAACCTGGCACTTCCCAGCAAGGCCCACGCGGGCCGTCCCCAGGAGGCCCCTTTCTCCATCCCAGCCCTGGACTTCCGCTCGCCCGCGTCTCAGTCACACGTGCGGTTGTGTAGCTGTCTGTTTACCTGTCACCGCAACCAGCCTGTGTCCCTGGCTCCCAGAACCGTGCCTGGTACAAGTCAGCTCTCCATAAACACACATCATGTTAATGAATGAGCAGGGAGGGAGGGTGACGAAGCCTGTCCCCTCTGCCCCACCCTCCAGCCTTCAGCCCCCCTGGGCGGCAGGACAAGTGCAGAGCCCACTCCACCCCCAACCTGCCTGCTGCCACACCCTGGGAGAAAGGGTATGTGCCCCTCCTCACAGACACACACACACGCACTCCTACACATAAATACACCACATGCACACACAGTCACACATGGCATACACACCCACATATATGCACACACACAATACTCACACACAAATATAACTCATGCACACACAGTCACACGTAGCACACACGCACCCACATATACACGCACATGGCACCCACACACAGCAAACACACCACAAATATGCACACACACCACAAACACCAACCACCACACATGCACGCATACACACACACCTCACACTCATACACAACACCAGACACAAAGCACACATACTATATGTACTTGTTCATATACACAAACACACCACATGCACGCACACACACTCGCACACACATACACACACCAAACACACACACATGCACTCACGCACATACACCACACACATGCACTCACATACACATGCATGCCACACACATATACACATGCCACACACATGCATTCACACCCATACACACACGTGCCACACATATACACACACCCCACACAATGCTAAACACATACATACCACACACACCATGCATACACACACACCACACACACATGCGCTCACACACACACACACTCACCCACATTCACACCCGGCACTCCTGGCCCTGGCCCTCGCCCTGCTGTGCCTTGCAGCCCTCAGAGGCTTCACTTGGCCTCTGGGCCAAGGACCCCAATCACTTTCTATGAAGGGCCAGACAGTAAATGTGTTTGGCTTTGGGGGCCGTGCGGCGTCTGCAGCGACATGGAGGAGGCAGCCAAGACCATGTCCCCACGAGCAATGTGGCCATGCTGCAGTCAAAGGGCACAGACATAGGCCTTTGGTGGCTGACCAAGGGGCCCCGTCCCTTCCCTTCCAGAGTAGAGGCTCAGCGAAGGGCCAGCAGGCTGCGGGGGTAGGGCCAGGACCCCGCGAGAGGACAGTCCCTTCCCAGATCCTGCCGCCCTGCTCTGGGAGCCTGTGGCCCTGGGGTGCTGTTAAGATCTCTCCCTGGTGCTCACCCGAGTTTGCCTACCCTCACCTGCATCCACCCGAGCTCACCTGTGCCCTCCCAGAGGCCACAGCATTTGCCCCCTGCACAGTGGGGATGCATGCCAGGCCGTGGGCAGCCACTCCCCCACCCTTCCCCACGGCACAAGGATGCCCCCACTCAGGCGCACCCCCACCCTCCAGGACGATCCTTCCTGACACCTCCAGCAC
Task1_train_28470
This sequence variant lies in ITGB2 (integrin subunit beta 2) on Chromosome 21. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Leukocyte adhesion deficiency 1
TGACAGAGCCCCCCACACTGGGGGAACGTGGGGACCCAAGCAGGGGCAGCGGCCTCACCGGGCAGGCGGCGACCTGCATCATGGCGTCCAGCCCACCCTCGGGTGCATCCAGGTTTCCGGAAATCAGCTGCTTCCCGACCTCGGTCTGAAACTGGTTGGAGTTGTTGGTCAGCTTCAGCACGTGCCTGAAGGCAAACGGGGGCTGGCACTCTTTCTCCTTGTTGGGGCATGGGTTTCGCAGCTTATCAGGGTGCGTGTTCACGAACGGCAGCACGGTCTTGTCCACGAAGGACCCGAAGCCTGCAGGGCACATGGAGGGGCTGGGGAGGTGGCAGGCTGGGCCCAGGTGGGAGGGCCAGCTTCAAAGGGGCACGAGGGCAAGCCTGTTTCCTCTCTCCTAGCAGGGAGGTGGAGAAAGCAAGATGGCACATGTGGAGTGTGTGTGTGAGCATGTGCGTTGTGCAAGCACACATGTGAACGTATGTGGGCGTGTGTGTGAACCTGGGAGTGTGCAATGTACATGGATGAGCATAAGTGTATGCATGTGTGTTCCTGCATGTATGTGTGTGACCAGGTATACATGTGGGCATGTGAACAGGTGCGTATGTGTATCTGTGTGTGCAGCCATCTGCATGTGTAAACATGAGTGTGTACATGCGTAGCACAACTGTGTGTGCACGTATTCCTGTATGCATGTGAGCATGTTCAGGTATGGACACACCTAGTTCACGTAGGTGACCAGGTACATATGTGGGCATGTGTGTTTATGTACGATTTATACATGTGAGTGAAGACATACATGGGTGATCATGAGTGTGCATGTGAGCATGTCTGTGTGCACATGTGGTCTTGCACGTGTGTATGACTGTGTGTGCATGTGTGTGCACATGCAAGTGTGAGCATGCATTCATGTGTGTGAGCATGCATTTGTGTGTGAGCGTGCATTCACGTGTGTGAGCGTGCATTTGTGCATGTGAGCATACATTCGCGTGTGTGAGCATGCATTTGCGTGTGAGCATACATTCATGTGTGAGCATACATTCACATGTGAGAGCATGCATTTGTGTGTTTGAGCATGTGTGTGAGCATACATTCACGTGTGTGAGCATGCATTCACGTGTGTGTGCATTTGAGTTTGGGTGTGCTTTTGTGTGTGAGCATGCATTCGCGTGTGTGAGCATCCATTTGTGCATGTGAGGATACATTCATGTGTGAGTGTGCATTCGCATGTGTGAGCGTGCATTTGCGTTTGAGCATGCATTTGTGTGTGAGTGTGCATTGCATGTGTGAACATGCATTTGTGTGTGAGCGTGCATTCACGTGCATGAGCGTGCATTTGTGTGTGAGCGTGCATTTGTGTGAGCATGCATTTGCTTGTGTGTGTGTGTGTTATCGTGCATGTGTGCATCCCCGCATGTAGGGAAGGTGGCAGAGTGCCGATGTGAGAAGCCACGGCCGGCGGGGAAGACATGCGCTGTGACTGACACACACGTGTGCTGGAGACCTGCTCTGTGGCAAGGCAGTGCTGGTGTAGAGCGGAGCCCTTGGCCCAGCAGAGCTTGCTGTGTGGTTTCTTCAGTGCTGCCGTCGCTGTGCCGTCTATATGTGTTGTGGTCTTTAATGTTTAATAATTGGCACTGTCAGAATTTTGTCTTTTAAACATACCAAGAAATAAATAAAGGAAGTAGAAGATGGAAGGGGAAGTGGAGGGCTGGACAATGTCTACAAGTGTTGGGGAGCCAGGGACTGGGTGTGGCCCCTGGCAGGGAGGCAGGCCGACTGCAGCCCTGTGGATGCCCTGGGGGGACCTGCATCTGGGGCCCCCAGATCTACCCTGGGGACCTGAGTGCGAGGAGTTGTGTGGGCCACAGGCAGGAGTGGCCAGGGTCTGGGAAAGGACTGGGTTTTGTCCTGCAGTGCCTGGGCCTCACCAATGCGGCCGGACTCGGTGATCTCGTTGAGGGCCCGGAGCAGGTCGCCACCTAGCTTCTTGACATTCCTGAGGTCATCAAGCATGGAGTAGGAGAGGTCCATCAGATAGTACAGGTCGATGGGGTAGCCCTTGGCCCGCCGGAAGGTCACGTTGAACGCTGCTGCCTGGCCTGCCGGTGGGGACAGAACAAAAGGAGCCACACCTCACATCTCACACAGGGTGTCTGGGGGCGTGTGGCCCCGAGCGGGCTGTGCACTGGCACCCTCTCCTCCAGCCCCCAAATCCTCCTGACCTCCCCTCTCCCCGCCTGGCAGGAGAGCTGAGGACCAGACACAGGACATCCAGGCAGGCTGGAGTTTCAGAGGAAGGACATGACTCCCGGACGCAGGCATGTGCCTCGCAGTGACACTGAAACCCGCCTGGGGTGCTTAGAGTTGACGCCAGCGACATTGGGGACGCCTTTCATTGAGAGTGGCAGCGGCTCACCTGGGCTCACACCTAACCCGGCCCCATGCCTGCAGTCCCACGGGCGCCCTCATCAGCAGCCACATAGACAGGCATCACACGAACCTGGCACTTCCCAGCAAGGCCCACGCGGGCCGTCCCCAGGAGGCCCCTTTCTCCATCCCAGCCCTGGACTTCCGCTCGCCCGCGTCTCAGTCACACGTGCGGTTGTGTAGCTGTCTGTTTACCTGTCACCGCAACCAGCCTGTGTCCCTGGCTCCCAGAACCGTGCCTGGTACAAGTCAGCTCTCCATAAACACACATCATGTTAATGAATGAGCAGGGAGGGAGGGTGACGAAGCCTGTCCCCTCTGCCCCACCCTCCAGCCTTCAGCCCCCCTGGGCGGCAGGACAAGTGCAGAGCCCACTCCACCCCCAACCTGCCTGCTGCCACACCCTGGGAGAAAGGGTATGTGCCCCTCCTCACAGACACACACACACGCACTCCTACACATAAATACACCACATGCACACACAGTCACACATGGCATACACACCCACATATATGCACACACACAATACTCACACACAAATATAACTCATGCACACACAGTCACACGTAGCACACACGCACCCACATATACACGCACATGGCACCCACACACAGCAAACACACCACAAATATGCACACACACCACAAACACCAACCACCACACATGCACGCATACACACACACCTCACACTCATACACAACACCAGACACAAAGCACACATACTATATGTACTTGTTCATATACACAAACACACCACATGCACGCACACACACTCGCACACACATACACACACCAAACACACACACATGCACTCACGCACATACACCACACACATGCACTCACATACACATGCATGCCACACACATATACACATGCCACACACATGCATTCACACCCATACACACACGTGCCACACATATACACACACCCCACACAATGCTAAACACATACATACCACACACACCATGCATACACACACACCACACACACATGCGCTCACACACACACACACTCACCCACATTCACACCCGGCACTCCTGGCCCTGGCCCTCGCCCTGCTGTGCCTTGCAGCCCTCAGAGGCTTCACTTGGCCTCTGGGCCAAGGACCCCAATCACTTTCTATGAAGGGCCAGACAGTAAATGTGTTTGGCTTTGGGGGCCGTGCGGCGTCTGCAGCGACATGGAGGAGGCAGCCAAGACCATGTCCCCACGAGCAATGTGGCCATGCTGCAGTCAAAGGGCACAGACATAGGCCTTTGGTGGCTGACCAAGGGGCCCCGTCCCTTCCCTTCCAGAGTAGAGGCTCAGCGAAGGGCCAGCAGGCTGCGGGGGTAGGGCCAGGACCCCGCGAGAGGACAGTCCCTTCCCAGATCCTGCCGCCCTGCTCTGGGAGCCTGTGGCCCTGGGGTGCTGTTAAGATCTCTCCCTGGTGCTCACCCGAGTTTGCCTACCCTCACCTGCATCCACCCGAGCTCACCTGTGCCCTCCCAGAGGCCACAGCATTTGCCCCCTGCACAGTGGGGATGCATGCCAGGCCGTGGGCAGCCACTCCCCCACCCTTCCCCACGGCACAAGGATGCCCCCACTCAGGCGCACCCCCACCCTCCAGGACGATCCTTCCTGACACCTCCAGCACCACAGAGCTGCACAAACTCTGGCCACAGGC
TGACAGAGCCCCCCACACTGGGGGAACGTGGGGACCCAAGCAGGGGCAGCGGCCTCACCGGGCAGGCGGCGACCTGCATCATGGCGTCCAGCCCACCCTCGGGTGCATCCAGGTTTCCGGAAATCAGCTGCTTCCCGACCTCGGTCTGAAACTGGTTGGAGTTGTTGGTCAGCTTCAGCACGTGCCTGAAGGCAAACGGGGGCTGGCACTCTTTCTCCTTGTTGGGGCATGGGTTTCGCAGCTTATCAGGGTGCGTGTTCACGAACGGCAGCACGGTCTTGTCCACGAAGGACCCGAAGCCTGCAGGGCACATGGAGGGGCTGGGGAGGTGGCAGGCTGGGCCCAGGTGGGAGGGCCAGCTTCAAAGGGGCACGAGGGCAAGCCTGTTTCCTCTCTCCTAGCAGGGAGGTGGAGAAAGCAAGATGGCACATGTGGAGTGTGTGTGTGAGCATGTGCGTTGTGCAAGCACACATGTGAACGTATGTGGGCGTGTGTGTGAACCTGGGAGTGTGCAATGTACATGGATGAGCATAAGTGTATGCATGTGTGTTCCTGCATGTATGTGTGTGACCAGGTATACATGTGGGCATGTGAACAGGTGCGTATGTGTATCTGTGTGTGCAGCCATCTGCATGTGTAAACATGAGTGTGTACATGCGTAGCACAACTGTGTGTGCACGTATTCCTGTATGCATGTGAGCATGTTCAGGTATGGACACACCTAGTTCACGTAGGTGACCAGGTACATATGTGGGCATGTGTGTTTATGTACGATTTATACATGTGAGTGAAGACATACATGGGTGATCATGAGTGTGCATGTGAGCATGTCTGTGTGCACATGTGGTCTTGCACGTGTGTATGACTGTGTGTGCATGTGTGTGCACATGCAAGTGTGAGCATGCATTCATGTGTGTGAGCATGCATTTGTGTGTGAGCGTGCATTCACGTGTGTGAGCGTGCATTTGTGCATGTGAGCATACATTCGCGTGTGTGAGCATGCATTTGCGTGTGAGCATACATTCATGTGTGAGCATACATTCACATGTGAGAGCATGCATTTGTGTGTTTGAGCATGTGTGTGAGCATACATTCACGTGTGTGAGCATGCATTCACGTGTGTGTGCATTTGAGTTTGGGTGTGCTTTTGTGTGTGAGCATGCATTCGCGTGTGTGAGCATCCATTTGTGCATGTGAGGATACATTCATGTGTGAGTGTGCATTCGCATGTGTGAGCGTGCATTTGCGTTTGAGCATGCATTTGTGTGTGAGTGTGCATTGCATGTGTGAACATGCATTTGTGTGTGAGCGTGCATTCACGTGCATGAGCGTGCATTTGTGTGTGAGCGTGCATTTGTGTGAGCATGCATTTGCTTGTGTGTGTGTGTGTTATCGTGCATGTGTGCATCCCCGCATGTAGGGAAGGTGGCAGAGTGCCGATGTGAGAAGCCACGGCCGGCGGGGAAGACATGCGCTGTGACTGACACACACGTGTGCTGGAGACCTGCTCTGTGGCAAGGCAGTGCTGGTGTAGAGCGGAGCCCTTGGCCCAGCAGAGCTTGCTGTGTGGTTTCTTCAGTGCTGCCGTCGCTGTGCCGTCTATATGTGTTGTGGTCTTTAATGTTTAATAATTGGCACTGTCAGAATTTTGTCTTTTAAACATACCAAGAAATAAATAAAGGAAGTAGAAGATGGAAGGGGAAGTGGAGGGCTGGACAATGTCTACAAGTGTTGGGGAGCCAGGGACTGGGTGTGGCCCCTGGCAGGGAGGCAGGCCGACTGCAGCCCTGTGGATGCCCTGGGGGGACCTGCATCTGGGGCCCCCAGATCTACCCTGGGGACCTGAGTGCGAGGAGTTGTGTGGGCCACAGGCAGGAGTGGCCAGGGTCTGGGAAAGGACTGGGTTTTGTCCTGCAGTGCCTGGGCCTCACCAATGCGGCCGGACTCGGTGATCTCGTTGAGGGCCCGGAGCAGGTCGCCACCTAGCTTCTTGACATTCCTGAGGTCATCAAGCATGGAGTAGGAGAGGTCCATCAGATAGTACAGGTAGATGGGGTAGCCCTTGGCCCGCCGGAAGGTCACGTTGAACGCTGCTGCCTGGCCTGCCGGTGGGGACAGAACAAAAGGAGCCACACCTCACATCTCACACAGGGTGTCTGGGGGCGTGTGGCCCCGAGCGGGCTGTGCACTGGCACCCTCTCCTCCAGCCCCCAAATCCTCCTGACCTCCCCTCTCCCCGCCTGGCAGGAGAGCTGAGGACCAGACACAGGACATCCAGGCAGGCTGGAGTTTCAGAGGAAGGACATGACTCCCGGACGCAGGCATGTGCCTCGCAGTGACACTGAAACCCGCCTGGGGTGCTTAGAGTTGACGCCAGCGACATTGGGGACGCCTTTCATTGAGAGTGGCAGCGGCTCACCTGGGCTCACACCTAACCCGGCCCCATGCCTGCAGTCCCACGGGCGCCCTCATCAGCAGCCACATAGACAGGCATCACACGAACCTGGCACTTCCCAGCAAGGCCCACGCGGGCCGTCCCCAGGAGGCCCCTTTCTCCATCCCAGCCCTGGACTTCCGCTCGCCCGCGTCTCAGTCACACGTGCGGTTGTGTAGCTGTCTGTTTACCTGTCACCGCAACCAGCCTGTGTCCCTGGCTCCCAGAACCGTGCCTGGTACAAGTCAGCTCTCCATAAACACACATCATGTTAATGAATGAGCAGGGAGGGAGGGTGACGAAGCCTGTCCCCTCTGCCCCACCCTCCAGCCTTCAGCCCCCCTGGGCGGCAGGACAAGTGCAGAGCCCACTCCACCCCCAACCTGCCTGCTGCCACACCCTGGGAGAAAGGGTATGTGCCCCTCCTCACAGACACACACACACGCACTCCTACACATAAATACACCACATGCACACACAGTCACACATGGCATACACACCCACATATATGCACACACACAATACTCACACACAAATATAACTCATGCACACACAGTCACACGTAGCACACACGCACCCACATATACACGCACATGGCACCCACACACAGCAAACACACCACAAATATGCACACACACCACAAACACCAACCACCACACATGCACGCATACACACACACCTCACACTCATACACAACACCAGACACAAAGCACACATACTATATGTACTTGTTCATATACACAAACACACCACATGCACGCACACACACTCGCACACACATACACACACCAAACACACACACATGCACTCACGCACATACACCACACACATGCACTCACATACACATGCATGCCACACACATATACACATGCCACACACATGCATTCACACCCATACACACACGTGCCACACATATACACACACCCCACACAATGCTAAACACATACATACCACACACACCATGCATACACACACACCACACACACATGCGCTCACACACACACACACTCACCCACATTCACACCCGGCACTCCTGGCCCTGGCCCTCGCCCTGCTGTGCCTTGCAGCCCTCAGAGGCTTCACTTGGCCTCTGGGCCAAGGACCCCAATCACTTTCTATGAAGGGCCAGACAGTAAATGTGTTTGGCTTTGGGGGCCGTGCGGCGTCTGCAGCGACATGGAGGAGGCAGCCAAGACCATGTCCCCACGAGCAATGTGGCCATGCTGCAGTCAAAGGGCACAGACATAGGCCTTTGGTGGCTGACCAAGGGGCCCCGTCCCTTCCCTTCCAGAGTAGAGGCTCAGCGAAGGGCCAGCAGGCTGCGGGGGTAGGGCCAGGACCCCGCGAGAGGACAGTCCCTTCCCAGATCCTGCCGCCCTGCTCTGGGAGCCTGTGGCCCTGGGGTGCTGTTAAGATCTCTCCCTGGTGCTCACCCGAGTTTGCCTACCCTCACCTGCATCCACCCGAGCTCACCTGTGCCCTCCCAGAGGCCACAGCATTTGCCCCCTGCACAGTGGGGATGCATGCCAGGCCGTGGGCAGCCACTCCCCCACCCTTCCCCACGGCACAAGGATGCCCCCACTCAGGCGCACCCCCACCCTCCAGGACGATCCTTCCTGACACCTCCAGCACCACAGAGCTGCACAAACTCTGGCCACAGGC
Task1_train_28471
Mutation context: Chromosome 21, Gene ITGB2 (integrin subunit beta 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Leukocyte adhesion deficiency 1
TGACAGAGCCCCCCACACTGGGGGAACGTGGGGACCCAAGCAGGGGCAGCGGCCTCACCGGGCAGGCGGCGACCTGCATCATGGCGTCCAGCCCACCCTCGGGTGCATCCAGGTTTCCGGAAATCAGCTGCTTCCCGACCTCGGTCTGAAACTGGTTGGAGTTGTTGGTCAGCTTCAGCACGTGCCTGAAGGCAAACGGGGGCTGGCACTCTTTCTCCTTGTTGGGGCATGGGTTTCGCAGCTTATCAGGGTGCGTGTTCACGAACGGCAGCACGGTCTTGTCCACGAAGGACCCGAAGCCTGCAGGGCACATGGAGGGGCTGGGGAGGTGGCAGGCTGGGCCCAGGTGGGAGGGCCAGCTTCAAAGGGGCACGAGGGCAAGCCTGTTTCCTCTCTCCTAGCAGGGAGGTGGAGAAAGCAAGATGGCACATGTGGAGTGTGTGTGTGAGCATGTGCGTTGTGCAAGCACACATGTGAACGTATGTGGGCGTGTGTGTGAACCTGGGAGTGTGCAATGTACATGGATGAGCATAAGTGTATGCATGTGTGTTCCTGCATGTATGTGTGTGACCAGGTATACATGTGGGCATGTGAACAGGTGCGTATGTGTATCTGTGTGTGCAGCCATCTGCATGTGTAAACATGAGTGTGTACATGCGTAGCACAACTGTGTGTGCACGTATTCCTGTATGCATGTGAGCATGTTCAGGTATGGACACACCTAGTTCACGTAGGTGACCAGGTACATATGTGGGCATGTGTGTTTATGTACGATTTATACATGTGAGTGAAGACATACATGGGTGATCATGAGTGTGCATGTGAGCATGTCTGTGTGCACATGTGGTCTTGCACGTGTGTATGACTGTGTGTGCATGTGTGTGCACATGCAAGTGTGAGCATGCATTCATGTGTGTGAGCATGCATTTGTGTGTGAGCGTGCATTCACGTGTGTGAGCGTGCATTTGTGCATGTGAGCATACATTCGCGTGTGTGAGCATGCATTTGCGTGTGAGCATACATTCATGTGTGAGCATACATTCACATGTGAGAGCATGCATTTGTGTGTTTGAGCATGTGTGTGAGCATACATTCACGTGTGTGAGCATGCATTCACGTGTGTGTGCATTTGAGTTTGGGTGTGCTTTTGTGTGTGAGCATGCATTCGCGTGTGTGAGCATCCATTTGTGCATGTGAGGATACATTCATGTGTGAGTGTGCATTCGCATGTGTGAGCGTGCATTTGCGTTTGAGCATGCATTTGTGTGTGAGTGTGCATTGCATGTGTGAACATGCATTTGTGTGTGAGCGTGCATTCACGTGCATGAGCGTGCATTTGTGTGTGAGCGTGCATTTGTGTGAGCATGCATTTGCTTGTGTGTGTGTGTGTTATCGTGCATGTGTGCATCCCCGCATGTAGGGAAGGTGGCAGAGTGCCGATGTGAGAAGCCACGGCCGGCGGGGAAGACATGCGCTGTGACTGACACACACGTGTGCTGGAGACCTGCTCTGTGGCAAGGCAGTGCTGGTGTAGAGCGGAGCCCTTGGCCCAGCAGAGCTTGCTGTGTGGTTTCTTCAGTGCTGCCGTCGCTGTGCCGTCTATATGTGTTGTGGTCTTTAATGTTTAATAATTGGCACTGTCAGAATTTTGTCTTTTAAACATACCAAGAAATAAATAAAGGAAGTAGAAGATGGAAGGGGAAGTGGAGGGCTGGACAATGTCTACAAGTGTTGGGGAGCCAGGGACTGGGTGTGGCCCCTGGCAGGGAGGCAGGCCGACTGCAGCCCTGTGGATGCCCTGGGGGGACCTGCATCTGGGGCCCCCAGATCTACCCTGGGGACCTGAGTGCGAGGAGTTGTGTGGGCCACAGGCAGGAGTGGCCAGGGTCTGGGAAAGGACTGGGTTTTGTCCTGCAGTGCCTGGGCCTCACCAATGCGGCCGGACTCGGTGATCTCGTTGAGGGCCCGGAGCAGGTCGCCACCTAGCTTCTTGACATTCCTGAGGTCATCAAGCATGGAGTAGGAGAGGTCCATCAGATAGTACAGGTCGATGGGGTAGCCCTTGGCCCGCCGGAAGGTCACGTTGAACGCTGCTGCCTGGCCTGCCGGTGGGGACAGAACAAAAGGAGCCACACCTCACATCTCACACAGGGTGTCTGGGGGCGTGTGGCCCCGAGCGGGCTGTGCACTGGCACCCTCTCCTCCAGCCCCCAAATCCTCCTGACCTCCCCTCTCCCCGCCTGGCAGGAGAGCTGAGGACCAGACACAGGACATCCAGGCAGGCTGGAGTTTCAGAGGAAGGACATGACTCCCGGACGCAGGCATGTGCCTCGCAGTGACACTGAAACCCGCCTGGGGTGCTTAGAGTTGACGCCAGCGACATTGGGGACGCCTTTCATTGAGAGTGGCAGCGGCTCACCTGGGCTCACACCTAACCCGGCCCCATGCCTGCAGTCCCACGGGCGCCCTCATCAGCAGCCACATAGACAGGCATCACACGAACCTGGCACTTCCCAGCAAGGCCCACGCGGGCCGTCCCCAGGAGGCCCCTTTCTCCATCCCAGCCCTGGACTTCCGCTCGCCCGCGTCTCAGTCACACGTGCGGTTGTGTAGCTGTCTGTTTACCTGTCACCGCAACCAGCCTGTGTCCCTGGCTCCCAGAACCGTGCCTGGTACAAGTCAGCTCTCCATAAACACACATCATGTTAATGAATGAGCAGGGAGGGAGGGTGACGAAGCCTGTCCCCTCTGCCCCACCCTCCAGCCTTCAGCCCCCCTGGGCGGCAGGACAAGTGCAGAGCCCACTCCACCCCCAACCTGCCTGCTGCCACACCCTGGGAGAAAGGGTATGTGCCCCTCCTCACAGACACACACACACGCACTCCTACACATAAATACACCACATGCACACACAGTCACACATGGCATACACACCCACATATATGCACACACACAATACTCACACACAAATATAACTCATGCACACACAGTCACACGTAGCACACACGCACCCACATATACACGCACATGGCACCCACACACAGCAAACACACCACAAATATGCACACACACCACAAACACCAACCACCACACATGCACGCATACACACACACCTCACACTCATACACAACACCAGACACAAAGCACACATACTATATGTACTTGTTCATATACACAAACACACCACATGCACGCACACACACTCGCACACACATACACACACCAAACACACACACATGCACTCACGCACATACACCACACACATGCACTCACATACACATGCATGCCACACACATATACACATGCCACACACATGCATTCACACCCATACACACACGTGCCACACATATACACACACCCCACACAATGCTAAACACATACATACCACACACACCATGCATACACACACACCACACACACATGCGCTCACACACACACACACTCACCCACATTCACACCCGGCACTCCTGGCCCTGGCCCTCGCCCTGCTGTGCCTTGCAGCCCTCAGAGGCTTCACTTGGCCTCTGGGCCAAGGACCCCAATCACTTTCTATGAAGGGCCAGACAGTAAATGTGTTTGGCTTTGGGGGCCGTGCGGCGTCTGCAGCGACATGGAGGAGGCAGCCAAGACCATGTCCCCACGAGCAATGTGGCCATGCTGCAGTCAAAGGGCACAGACATAGGCCTTTGGTGGCTGACCAAGGGGCCCCGTCCCTTCCCTTCCAGAGTAGAGGCTCAGCGAAGGGCCAGCAGGCTGCGGGGGTAGGGCCAGGACCCCGCGAGAGGACAGTCCCTTCCCAGATCCTGCCGCCCTGCTCTGGGAGCCTGTGGCCCTGGGGTGCTGTTAAGATCTCTCCCTGGTGCTCACCCGAGTTTGCCTACCCTCACCTGCATCCACCCGAGCTCACCTGTGCCCTCCCAGAGGCCACAGCATTTGCCCCCTGCACAGTGGGGATGCATGCCAGGCCGTGGGCAGCCACTCCCCCACCCTTCCCCACGGCACAAGGATGCCCCCACTCAGGCGCACCCCCACCCTCCAGGACGATCCTTCCTGACACCTCCAGCACCACAGAGCTGCACAAACTCTGGCCACAGGC
TGACAGAGCCCCCCACACTGGGGGAACGTGGGGACCCAAGCAGGGGCAGCGGCCTCACCGGGCAGGCGGCGACCTGCATCATGGCGTCCAGCCCACCCTCGGGTGCATCCAGGTTTCCGGAAATCAGCTGCTTCCCGACCTCGGTCTGAAACTGGTTGGAGTTGTTGGTCAGCTTCAGCACGTGCCTGAAGGCAAACGGGGGCTGGCACTCTTTCTCCTTGTTGGGGCATGGGTTTCGCAGCTTATCAGGGTGCGTGTTCACGAACGGCAGCACGGTCTTGTCCACGAAGGACCCGAAGCCTGCAGGGCACATGGAGGGGCTGGGGAGGTGGCAGGCTGGGCCCAGGTGGGAGGGCCAGCTTCAAAGGGGCACGAGGGCAAGCCTGTTTCCTCTCTCCTAGCAGGGAGGTGGAGAAAGCAAGATGGCACATGTGGAGTGTGTGTGTGAGCATGTGCGTTGTGCAAGCACACATGTGAACGTATGTGGGCGTGTGTGTGAACCTGGGAGTGTGCAATGTACATGGATGAGCATAAGTGTATGCATGTGTGTTCCTGCATGTATGTGTGTGACCAGGTATACATGTGGGCATGTGAACAGGTGCGTATGTGTATCTGTGTGTGCAGCCATCTGCATGTGTAAACATGAGTGTGTACATGCGTAGCACAACTGTGTGTGCACGTATTCCTGTATGCATGTGAGCATGTTCAGGTATGGACACACCTAGTTCACGTAGGTGACCAGGTACATATGTGGGCATGTGTGTTTATGTACGATTTATACATGTGAGTGAAGACATACATGGGTGATCATGAGTGTGCATGTGAGCATGTCTGTGTGCACATGTGGTCTTGCACGTGTGTATGACTGTGTGTGCATGTGTGTGCACATGCAAGTGTGAGCATGCATTCATGTGTGTGAGCATGCATTTGTGTGTGAGCGTGCATTCACGTGTGTGAGCGTGCATTTGTGCATGTGAGCATACATTCGCGTGTGTGAGCATGCATTTGCGTGTGAGCATACATTCATGTGTGAGCATACATTCACATGTGAGAGCATGCATTTGTGTGTTTGAGCATGTGTGTGAGCATACATTCACGTGTGTGAGCATGCATTCACGTGTGTGTGCATTTGAGTTTGGGTGTGCTTTTGTGTGTGAGCATGCATTCGCGTGTGTGAGCATCCATTTGTGCATGTGAGGATACATTCATGTGTGAGTGTGCATTCGCATGTGTGAGCGTGCATTTGCGTTTGAGCATGCATTTGTGTGTGAGTGTGCATTGCATGTGTGAACATGCATTTGTGTGTGAGCGTGCATTCACGTGCATGAGCGTGCATTTGTGTGTGAGCGTGCATTTGTGTGAGCATGCATTTGCTTGTGTGTGTGTGTGTTATCGTGCATGTGTGCATCCCCGCATGTAGGGAAGGTGGCAGAGTGCCGATGTGAGAAGCCACGGCCGGCGGGGAAGACATGCGCTGTGACTGACACACACGTGTGCTGGAGACCTGCTCTGTGGCAAGGCAGTGCTGGTGTAGAGCGGAGCCCTTGGCCCAGCAGAGCTTGCTGTGTGGTTTCTTCAGTGCTGCCGTCGCTGTGCCGTCTATATGTGTTGTGGTCTTTAATGTTTAATAATTGGCACTGTCAGAATTTTGTCTTTTAAACATACCAAGAAATAAATAAAGGAAGTAGAAGATGGAAGGGGAAGTGGAGGGCTGGACAATGTCTACAAGTGTTGGGGAGCCAGGGACTGGGTGTGGCCCCTGGCAGGGAGGCAGGCCGACTGCAGCCCTGTGGATGCCCTGGGGGGACCTGCATCTGGGGCCCCCAGATCTACCCTGGGGACCTGAGTGCGAGGAGTTGTGTGGGCCACAGGCAGGAGTGGCCAGGGTCTGGGAAAGGACTGGGTTTTGTCCTGCAGTGCCTGGGCCTCACCAATGCGGCCGGACTCGGTGATCTCGTTGAGGGCCCGGAGCAGGTCGCCACCTAGCTTCTTGACATTCCTGAGGTCATCAAGCATGGAGTAGGAGAGGTCCATCAGATAGTACAGGTTGATGGGGTAGCCCTTGGCCCGCCGGAAGGTCACGTTGAACGCTGCTGCCTGGCCTGCCGGTGGGGACAGAACAAAAGGAGCCACACCTCACATCTCACACAGGGTGTCTGGGGGCGTGTGGCCCCGAGCGGGCTGTGCACTGGCACCCTCTCCTCCAGCCCCCAAATCCTCCTGACCTCCCCTCTCCCCGCCTGGCAGGAGAGCTGAGGACCAGACACAGGACATCCAGGCAGGCTGGAGTTTCAGAGGAAGGACATGACTCCCGGACGCAGGCATGTGCCTCGCAGTGACACTGAAACCCGCCTGGGGTGCTTAGAGTTGACGCCAGCGACATTGGGGACGCCTTTCATTGAGAGTGGCAGCGGCTCACCTGGGCTCACACCTAACCCGGCCCCATGCCTGCAGTCCCACGGGCGCCCTCATCAGCAGCCACATAGACAGGCATCACACGAACCTGGCACTTCCCAGCAAGGCCCACGCGGGCCGTCCCCAGGAGGCCCCTTTCTCCATCCCAGCCCTGGACTTCCGCTCGCCCGCGTCTCAGTCACACGTGCGGTTGTGTAGCTGTCTGTTTACCTGTCACCGCAACCAGCCTGTGTCCCTGGCTCCCAGAACCGTGCCTGGTACAAGTCAGCTCTCCATAAACACACATCATGTTAATGAATGAGCAGGGAGGGAGGGTGACGAAGCCTGTCCCCTCTGCCCCACCCTCCAGCCTTCAGCCCCCCTGGGCGGCAGGACAAGTGCAGAGCCCACTCCACCCCCAACCTGCCTGCTGCCACACCCTGGGAGAAAGGGTATGTGCCCCTCCTCACAGACACACACACACGCACTCCTACACATAAATACACCACATGCACACACAGTCACACATGGCATACACACCCACATATATGCACACACACAATACTCACACACAAATATAACTCATGCACACACAGTCACACGTAGCACACACGCACCCACATATACACGCACATGGCACCCACACACAGCAAACACACCACAAATATGCACACACACCACAAACACCAACCACCACACATGCACGCATACACACACACCTCACACTCATACACAACACCAGACACAAAGCACACATACTATATGTACTTGTTCATATACACAAACACACCACATGCACGCACACACACTCGCACACACATACACACACCAAACACACACACATGCACTCACGCACATACACCACACACATGCACTCACATACACATGCATGCCACACACATATACACATGCCACACACATGCATTCACACCCATACACACACGTGCCACACATATACACACACCCCACACAATGCTAAACACATACATACCACACACACCATGCATACACACACACCACACACACATGCGCTCACACACACACACACTCACCCACATTCACACCCGGCACTCCTGGCCCTGGCCCTCGCCCTGCTGTGCCTTGCAGCCCTCAGAGGCTTCACTTGGCCTCTGGGCCAAGGACCCCAATCACTTTCTATGAAGGGCCAGACAGTAAATGTGTTTGGCTTTGGGGGCCGTGCGGCGTCTGCAGCGACATGGAGGAGGCAGCCAAGACCATGTCCCCACGAGCAATGTGGCCATGCTGCAGTCAAAGGGCACAGACATAGGCCTTTGGTGGCTGACCAAGGGGCCCCGTCCCTTCCCTTCCAGAGTAGAGGCTCAGCGAAGGGCCAGCAGGCTGCGGGGGTAGGGCCAGGACCCCGCGAGAGGACAGTCCCTTCCCAGATCCTGCCGCCCTGCTCTGGGAGCCTGTGGCCCTGGGGTGCTGTTAAGATCTCTCCCTGGTGCTCACCCGAGTTTGCCTACCCTCACCTGCATCCACCCGAGCTCACCTGTGCCCTCCCAGAGGCCACAGCATTTGCCCCCTGCACAGTGGGGATGCATGCCAGGCCGTGGGCAGCCACTCCCCCACCCTTCCCCACGGCACAAGGATGCCCCCACTCAGGCGCACCCCCACCCTCCAGGACGATCCTTCCTGACACCTCCAGCACCACAGAGCTGCACAAACTCTGGCCACAGGC
Task1_train_28472
This variant affects the gene ITGB2 (integrin subunit beta 2) found on Chromosome 21. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Leukocyte adhesion deficiency 1
TGCTGGAGCCCAGACTCTCAGGGAAAGGAACCCGAGCCGTCAGAAAACCATCTGATTCCAGGCTGGGGCAAGGGACATGGAGATGGGCCTGCAGCATCATGTTGCTCCAGAAAGCAAGAAAGTGCTCAGAACGGTAGAACGGGGATGCATGGACAGGACACGCAGCCAGACCCAGCGGATTTGAGCAACTCGGGGAAGAAAGGACAGCCACAGATCATGCACTACTGAACAAAATAAAACTGTGGGTCACGCTGATGAGAGAGAGGCTGCAGAGAAGGAGAGACCCTTCCTTAGGTTGGCAGCCGTGAGTGGCAGGCGGGGACCAGCACGGCACCAATCTGCAGCCATCGCAGTGATGGCGGCTTCAGGCGGGGACCTCCGCGGATGCTGAGCCTGCGGGTGCGATTTGATGAGGGCAGAACCTCACCAGCCCACAGTGGCTGCGAGGGGATCATGCAGCGGGATGGGGAGGCCGGGGGGATGCCGTCTCAGCAGAGCCGTCCACGCTGACCTCATCAAGACTGGGACGGGGCCACAGCAGTGCCTCTCATGGGCACTTAGGACACCGTCACTGAGGGGCTCCTGCCAAAGCACACCTGAGTCCAGGCAGAGGAAACTCCAGACAAGACCCCCGAGGGTCATGCTACAAAGCTGCTCTCCTGACTTCCTCAGAAACGCCCAAGGACAGGAAAGACAAAGAAAGCTGAGGACTTGTCCAGATTCAAGAAGCCCAAGGAGACGGCTGAGCGTAGGGCGAGCCTGGGTGAGGAGATTCAGAGCGTTAGACGGCTGAGCGCAGTGTGTGAACCTGGGTTAGGAGATTTGGGGCCTGAGATGGCTGAGTGCAGGGTGAGCCTGAGTGAGGAGATTCTGAGCCTGAGACAGCTGAGCACAGGGTGAGCCTGGGTGACAAAATCCACCAGGAAAATATGCTCACGAAGACATCATTGGGACAACCAATAAAATATGCGTAGTGTGTAGGTTTGATGATAATGAGATACCAATGCTGAATTTCCTGAATTTGATACATGAATTTATCAAATATAGATATACATGTATCAAAATACATTTACATCAAAGTACATTTCCTCTTGGCCACCTTGTCCCTGCAAAGCCCCTGGATTCTGATAAGGGCTGTGTTTGGTGGGTCCCGTCACTGGCCCCAAACCTGCTGACTCTGCAGGAAAGCGTGCTGGCGATGCGGGGCCAGAAGCGCGCGTGTTTCTGCACTTGCTTACGTAGTTTTGTAAGTGAAAACCTTGTTCTTAAGAAAGACCTCCCTTGAAGTACTAAGAGACAAAGGGCTCCATGTCTACAACCTACTCGGAAATGGCTGAGAAAAAATACAAGTGTGTGTTCTGTGTGTGTTTCCAAACAGACCACACATCAGAACCTCAGGGGCCCCTTGAGGGGAGGGTGAGGCCAGGGTCTGGGGACCCCCTCAAAAAGAAAATGGAGTTGTTGGTCCTCTGGGTGCCACTGGCTTCAGGGGCAGGAAAGGGCCCTCACCCAGGAGCTGGGCAGGTGGGGAGGGGTCCAGGAGGCACTTACCAGCTTCTGGCACCAGGTGCAGCCGGGCCCCGACTCGATGCATTCCCGGCAGCTGCTGACCTTGAACTTCGTGCACTCCTGAGAGAGGACTGAGGGACGAGGCCGGCTGGTGAGTGGGTGCTCTGGGCCGCCCTGCCCACACCCAAGGGGGAGTAGAGCAGGAAGGTCAGAGGAGGCCCAAAAAGACAGGGAGGCAGCCTCCAGGAGGAGACCCCGCATTCGCCACCACCCCCAGGTGCAAAGAGGGGCCCTCGGGAAACAGCACAGCTACAGCCTCCTGGCACGTGCGGAGACGAGGCCTGAGTCCCCGACCTACCCCCAGTGGCAAGGTCCTTCCCCAGCCTCCCGGGAACTTCTGTCTATGGGAAAGTGAGGGCAGGCCCTGTTCTCCCTGATTGGAATGTCACGCGTGGAGTCCCCTCCGTGGAACACAGAACTCACCGCACCCGAGGGAGAGCAGCCCCACCAGGGCGAGCAGTGGGGGGCGCAGGCCCAGCATGTCCTGTGGAGGGAAGGGGTCTTGGTGACGGTCTCAGGCCCAACCCCTGGGGCTGACCACCCATGAAGCTCCCCTCCAGCTGGCCTGGGACAAGGAGCTGGGGCCCTGTCCCTGCTGCAGGGGGTGGGTTAGGGTCAGGCCAGCACAGCTGCACTGGGCCCAGCTGCCAACAGCCAGGGAGGGAGGGATCCCGGGCTCAGCAGTGCGGGCAGCACACCTGCTCAGCCAGGCACCCAGGACAGCTGCAGCGGGCCCCTGCAGAGGCACACAACACAGGCACACACACACATGCAGACGTGTACACACACCACACATGCACGTGTACGTGCATACAGATGTGTGCCTGACTGCATGTACACACCACGTGCATGCACACACCACACATATACATGCATCACACCACACATATGTACACACAGAGATGTATACACCCCTTACCCACACCATACTCCCCGCAAGACACTACACACCACACACAAATATACACATGCACACGTACACACACATACACACCACACAGACACACACACCACACGCACACACCATACACACGTGCAAATGTACACGCACACAAACACCAGAACCCCACACACCCGGTGTGTGCACTCTGCCCCAGTGTGCCCCAGGTCCTCCGTGAGCAGAGCCTGTGCTTGGAGGAGAGCTGGGCTTGGCCCTGTCTCTCTGTGGCAGAAACATAGCCAGGAAGAGAAAGCTGGCTGGATGCCCGCGGGTGCCAGGCTGTGTGCCAGGAAGAGAAAGCTGGCTTGATGCCCGCGGGTGCCAAGCTGTGTGCTAGGCCTGCCCAGGAGCCCTGCAGTCCCTGCCAGGTGGGAAAAAAAGTCACCTGACTTGCCCAAGCCACCAGTTGCCGGGGTCCTGCCCTTTTGTTTCCAGATACACACCCACCCCGTCCTTAACCCACGCATCCACAGCCAGGGGCGGCTCAGTGGTCACTCACAGGCCCTCGGCCCCAGAGGCAAAATGACGGAAGCAGGCCTCAGCCTGGTGCTGGAGGCCGGCAGCACCTCCTAGCGGGCAGCAGGGCCGTTCCACCCCTGGGTTCCCTTCCCTCCATCCGGGAGGTGCCCAAACCAGGCCTAGGTCGGCTCCTTGGGGGGTCTTAGGGCTTCCTAGGTGGGGTGGGCCCCTGGGTCTGACCTCCCAGGACCTGAGAACATTATAGCTGGCTGGGACCCTTTTATCTGGCACCAAGAAGGTGGAGAGGTACTGAGAAGGGGTACCCAGGAGCCTTCCTGTCATGGTGGGCAGGAAGACATTTCCGTTACCCTGGGGCTGTTGTCAGAAGCAAAGATCAACACACCTCCTCCAGCAAATGCCAGTTCCTGTCACGGCCTCCCAGGCTGCTGGGGCGTTCCTGCCCCACACCCTTCCCTCGGGTGGTGCTGGCAGGGCCACCCAAGGTTCAGTGGGCAGACCCAAGCCAGCAGAGCCCCAAACTAGGGCCTGCCGGCTTTGAAGACAGCGCTGGGTGCTGTGCTGTGGCCCGGGAGGCTCGGGTGCCCTCAGCCACAGGCCCTGGCTCCCCTCCATCCCCCGAAAGCCCTGCACCTGTGCTGGGGGCTCTGAGGCCAACGGAACACCCACCAGGGGCCCATCTGAGGATCCCACAGCTTAGACGCCCCAACAAGCCCCAAGGTCCTGTTGTTTTGGCAGTGACCTCATTCCCTGGTTCCCAGCAAAATTATAATCAGAATACAAAAATGTCAAAAGGGAACCCTTGATCCTTCCCGTCCTGGGGTCAAAAACAGAACCTGCACCCTGCTGTAACTTCCTGGAGGAGGTGGTTTTGGTTCACATTGGGCCCACCCTGTGTCTGAAAGCCCCCATATCTCTGATCGTTGGGGGTTGTGGTTCAGGCCGAGGCCAGTTCCAGCTCTCCATCTGGGCCCCCTCAAAGTCCTGCGCCTGGACTGACCTCGGTGCCACGAGTGCCCACCAGCCCCTCAGCTGATCGGAGGCCCTGTGCGTGCTGGAGCTACCCCAGGGTGCAGGGTCCAGCCAGCTTCAGGACTCCCCCAGGGTGCA
TGCTGGAGCCCAGACTCTCAGGGAAAGGAACCCGAGCCGTCAGAAAACCATCTGATTCCAGGCTGGGGCAAGGGACATGGAGATGGGCCTGCAGCATCATGTTGCTCCAGAAAGCAAGAAAGTGCTCAGAACGGTAGAACGGGGATGCATGGACAGGACACGCAGCCAGACCCAGCGGATTTGAGCAACTCGGGGAAGAAAGGACAGCCACAGATCATGCACTACTGAACAAAATAAAACTGTGGGTCACGCTGATGAGAGAGAGGCTGCAGAGAAGGAGAGACCCTTCCTTAGGTTGGCAGCCGTGAGTGGCAGGCGGGGACCAGCACGGCACCAATCTGCAGCCATCGCAGTGATGGCGGCTTCAGGCGGGGACCTCCGCGGATGCTGAGCCTGCGGGTGCGATTTGATGAGGGCAGAACCTCACCAGCCCACAGTGGCTGCGAGGGGATCATGCAGCGGGATGGGGAGGCCGGGGGGATGCCGTCTCAGCAGAGCCGTCCACGCTGACCTCATCAAGACTGGGACGGGGCCACAGCAGTGCCTCTCATGGGCACTTAGGACACCGTCACTGAGGGGCTCCTGCCAAAGCACACCTGAGTCCAGGCAGAGGAAACTCCAGACAAGACCCCCGAGGGTCATGCTACAAAGCTGCTCTCCTGACTTCCTCAGAAACGCCCAAGGACAGGAAAGACAAAGAAAGCTGAGGACTTGTCCAGATTCAAGAAGCCCAAGGAGACGGCTGAGCGTAGGGCGAGCCTGGGTGAGGAGATTCAGAGCGTTAGACGGCTGAGCGCAGTGTGTGAACCTGGGTTAGGAGATTTGGGGCCTGAGATGGCTGAGTGCAGGGTGAGCCTGAGTGAGGAGATTCTGAGCCTGAGACAGCTGAGCACAGGGTGAGCCTGGGTGACAAAATCCACCAGGAAAATATGCTCACGAAGACATCATTGGGACAACCAATAAAATATGCGTAGTGTGTAGGTTTGATGATAATGAGATACCAATGCTGAATTTCCTGAATTTGATACATGAATTTATCAAATATAGATATACATGTATCAAAATACATTTACATCAAAGTACATTTCCTCTTGGCCACCTTGTCCCTGCAAAGCCCCTGGATTCTGATAAGGGCTGTGTTTGGTGGGTCCCGTCACTGGCCCCAAACCTGCTGACTCTGCAGGAAAGCGTGCTGGCGATGCGGGGCCAGAAGCGCGCGTGTTTCTGCACTTGCTTACGTAGTTTTGTAAGTGAAAACCTTGTTCTTAAGAAAGACCTCCCTTGAAGTACTAAGAGACAAAGGGCTCCATGTCTACAACCTACTCGGAAATGGCTGAGAAAAAATACAAGTGTGTGTTCTGTGTGTGTTTCCAAACAGACCACACATCAGAACCTCAGGGGCCCCTTGAGGGGAGGGTGAGGCCAGGGTCTGGGGACCCCCTCAAAAAGAAAATGGAGTTGTTGGTCCTCTGGGTGCCACTGGCTTCAGGGGCAGGAAAGGGCCCTCACCCAGGAGCTGGGCAGGTGGGGAGGGGTCCAGGAGGCACTTACCAGCTTCTGGCACCAGGTGCAGCCGGGCCCCGACTCGATGCATTCCCGGCAGCTGCTGACCTTGAACTTCGTGCACTCCTGAGAGAGGACTGAGGGACGAGGCCGGCTGGTGAGTGGGTGCTCTGGGCCGCCCTGCCCACACCCAAGGGGGAGTAGAGCAGGAAGGTCAGAGGAGGCCCAAAAAGACAGGGAGGCAGCCTCCAGGAGGAGACCCCGCATTCGCCACCACCCCCAGGTGCAAAGAGGGGCCCTCGGGAAACAGCACAGCTACAGCCTCCTGGCACGTGCGGAGACGAGGCCTGAGTCCCCGACCTACCCCCAGTGGCAAGGTCCTTCCCCAGCCTCCCGGGAACTTCTGTCTATGGGAAAGTGAGGGCAGGCCCTGTTCTCCCTGATTGGAATGTCACGCGTGGAGTCCCCTCCGTGGAACACAGAACTCACCGCACCCGAGGGAGAGCAGCCCCACCAGGGCGAGCAGTGGGGGGCGCAGGCCCAGCTTGTCCTGTGGAGGGAAGGGGTCTTGGTGACGGTCTCAGGCCCAACCCCTGGGGCTGACCACCCATGAAGCTCCCCTCCAGCTGGCCTGGGACAAGGAGCTGGGGCCCTGTCCCTGCTGCAGGGGGTGGGTTAGGGTCAGGCCAGCACAGCTGCACTGGGCCCAGCTGCCAACAGCCAGGGAGGGAGGGATCCCGGGCTCAGCAGTGCGGGCAGCACACCTGCTCAGCCAGGCACCCAGGACAGCTGCAGCGGGCCCCTGCAGAGGCACACAACACAGGCACACACACACATGCAGACGTGTACACACACCACACATGCACGTGTACGTGCATACAGATGTGTGCCTGACTGCATGTACACACCACGTGCATGCACACACCACACATATACATGCATCACACCACACATATGTACACACAGAGATGTATACACCCCTTACCCACACCATACTCCCCGCAAGACACTACACACCACACACAAATATACACATGCACACGTACACACACATACACACCACACAGACACACACACCACACGCACACACCATACACACGTGCAAATGTACACGCACACAAACACCAGAACCCCACACACCCGGTGTGTGCACTCTGCCCCAGTGTGCCCCAGGTCCTCCGTGAGCAGAGCCTGTGCTTGGAGGAGAGCTGGGCTTGGCCCTGTCTCTCTGTGGCAGAAACATAGCCAGGAAGAGAAAGCTGGCTGGATGCCCGCGGGTGCCAGGCTGTGTGCCAGGAAGAGAAAGCTGGCTTGATGCCCGCGGGTGCCAAGCTGTGTGCTAGGCCTGCCCAGGAGCCCTGCAGTCCCTGCCAGGTGGGAAAAAAAGTCACCTGACTTGCCCAAGCCACCAGTTGCCGGGGTCCTGCCCTTTTGTTTCCAGATACACACCCACCCCGTCCTTAACCCACGCATCCACAGCCAGGGGCGGCTCAGTGGTCACTCACAGGCCCTCGGCCCCAGAGGCAAAATGACGGAAGCAGGCCTCAGCCTGGTGCTGGAGGCCGGCAGCACCTCCTAGCGGGCAGCAGGGCCGTTCCACCCCTGGGTTCCCTTCCCTCCATCCGGGAGGTGCCCAAACCAGGCCTAGGTCGGCTCCTTGGGGGGTCTTAGGGCTTCCTAGGTGGGGTGGGCCCCTGGGTCTGACCTCCCAGGACCTGAGAACATTATAGCTGGCTGGGACCCTTTTATCTGGCACCAAGAAGGTGGAGAGGTACTGAGAAGGGGTACCCAGGAGCCTTCCTGTCATGGTGGGCAGGAAGACATTTCCGTTACCCTGGGGCTGTTGTCAGAAGCAAAGATCAACACACCTCCTCCAGCAAATGCCAGTTCCTGTCACGGCCTCCCAGGCTGCTGGGGCGTTCCTGCCCCACACCCTTCCCTCGGGTGGTGCTGGCAGGGCCACCCAAGGTTCAGTGGGCAGACCCAAGCCAGCAGAGCCCCAAACTAGGGCCTGCCGGCTTTGAAGACAGCGCTGGGTGCTGTGCTGTGGCCCGGGAGGCTCGGGTGCCCTCAGCCACAGGCCCTGGCTCCCCTCCATCCCCCGAAAGCCCTGCACCTGTGCTGGGGGCTCTGAGGCCAACGGAACACCCACCAGGGGCCCATCTGAGGATCCCACAGCTTAGACGCCCCAACAAGCCCCAAGGTCCTGTTGTTTTGGCAGTGACCTCATTCCCTGGTTCCCAGCAAAATTATAATCAGAATACAAAAATGTCAAAAGGGAACCCTTGATCCTTCCCGTCCTGGGGTCAAAAACAGAACCTGCACCCTGCTGTAACTTCCTGGAGGAGGTGGTTTTGGTTCACATTGGGCCCACCCTGTGTCTGAAAGCCCCCATATCTCTGATCGTTGGGGGTTGTGGTTCAGGCCGAGGCCAGTTCCAGCTCTCCATCTGGGCCCCCTCAAAGTCCTGCGCCTGGACTGACCTCGGTGCCACGAGTGCCCACCAGCCCCTCAGCTGATCGGAGGCCCTGTGCGTGCTGGAGCTACCCCAGGGTGCAGGGTCCAGCCAGCTTCAGGACTCCCCCAGGGTGCA
Task1_train_28473
With a mutation on Chromosome 21 in gene ADARB1 (adenosine deaminase RNA specific B1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Neurodevelopmental disorder with hypotonia, microcephaly, and seizures
CCAAGGGCGAGGACTTGGTCCCTTTAAACATTCCCATGGATGAAGCTGATGAATATTTTCACAACTTTTCAGTTTGCTTAACGTAATGAGAATCTACCATTTTACACATGTAGTAGAAATAGACCCTAAAGCCACCATATGGGGCACTCGTAAATTGGTTTACAATTTTAGTAATATTTTGGTTACTTTAAAAAATACAGATTTTTGAAATCTAGTGGTAGATGTCTTTAACTTTCATTCACATTACAACCTTGCAGGGCACTGTAGCCCTCACCCTTGGGCTCCATGTGACAGCTGCCTAGCCATGATGGAAAGGAATTATTTCTTCTTCTCCTTTTTAAAAAGCTTGATGAACACTTTATACTCCTCTTTTTAAAATAAAAAATTAGGGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGACCAATGTGATGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTAGCCCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACCCCAGTCTCAAAAATACATACATACATACATACATACATACATACATACATACATACATGTATAAATCCATAAATAAATAAAATTTAAAAATTATGTTTATTTTGCCATGTAATTTTACAATTCTAAAATTGTCTGTATTAATTCAAAATCTGAAATACCTTTAAAAGTTAGGATAAACAAATTATTCTGGAAATTCATCAAATAATTGTTTTAAAAAAGACAAAATCACCAGAAAGTGTATTTATGAAGTTAGGAAGTTGTAACCTGCCTACAGCTTCAGTTTTGTGTCTTGTTCTTACACACTTTTCCTATCATGGAACGATATTAAGGATTCAGACTTAGTCAGCCCCCATATATAATATTCTCATTTTTAAATAGATACTAGAAATAAAACCATACCCTCCTAAACACAACAACTAAAAAGCCATAATACTTTACACAATTACATAAGCAGCTTTTAAAGATTGGTTCATAAACTAAATCAAATAATTGCATTTATTGATTGAATATTTTAAACCTGAAAAACTAATTATCTTGTGAATGCATGTTTTTAAATAGTTTTCTCTTCTGAGAGACGCTGCAATTTAAAACCCTTAGATAGCATGAGGGTAAACAACAGTGAAAGGAAGATGCTAAAATAAATATATATTTATCCATATATTGATATTAAATTGTCATTTCATTAGACTTATTAATGTAAGGTCTTTCTGGATTAATTTATCATCCCACATTTTGATAAGGTTGAAAAAGTCTAGGTACTTCAGAATATTCTCAGAAGAAAAAAAATTATTTAAAGATTTTACTTTTTAAAGCAAAAGCAGTTGGTGACACTAAATAGAAATGGTATTAGTCACTAAGCAAAGTGTCAGATTACTTGTTTAGTTGAGGCTGATAGTTCTTTAACTAAATGTATAACTCTTCATGTATACATCAAGGAATAAAATTTATAAGCACACATCACTTAACCAGTTACAAAGAGAGCTAAAGGAATCTATAAATTTTGCATTTACAAGATCCTGCAACGAAGGCATTGTAAGTTACTCTTTCTGGGCACCACAGGTTCCAGCAGCACTGATGTGAAGGAAAACCGCAATCTGGACAACGTGTCCCCCAAGGATGGCAGCACACCTGGGCCTGGCGAGGGCTCTCAGCTCTCCAATGGGGGTGGTGGTGGCCCCGGCAGAAAGCGGCCCCTGGAGGAGGGCAGCAATGGCCACTCCAAGTACCGCCTGAAGAAAAGGAGGAAAACACCAGGGCCCGTCCTCCCCAAGAACGCCCTGATGCAGCTGAATGAGATCAAGCCTGGTTTGCAGTACACACTCCTGTCCCAGACTGGGCCCGTGCACGCGCCTTTGTTTGTCATGTCTGTGGAGGTGAATGGCCAGGTTTTTGAGGGCTCTGGTCCCACAAAGAAAAAGGCAAAACTCCATGCTGCTGAGAAGGCCTTGAGGTCTTTCGTTCAGTTTCCTAATGCCTCTGAGGCCCACCTGGCCATGGGGAGGACCCTGTCTGTCAACACGGACTTCACATCTGACCAGGCCGACTTCCCTGACACGCTCTTCAATGGTTTTGAAACTCCTGACAAGGCGGAGCCTCCCTTTTACGTGGGCTCCAATGGGGATGACTCCTTCAGTTCCAGCGGGGACCTCAGCTTGTCTGCTTCCCCGGTGCCTGCCAGCCTAGCCCAGCCTCCTCTCCCTGTCTTACCACCATTCCCACCCCCGAGTGGGAAGAATCCCGTGATGATCTTGAACGAACTGCGCCCAGGACTCAAGTATGACTTCCTCTCCGAGAGCGGGGAGAGCCATGCCAAGAGCTTCGTCATGTCTGTGGTCGTGGATGGTCAGTTCTTTGAAGGCTCGGGGAGAAACAAGAAGCTTGCCAAGGCCCGGGCTGCGCAGTCTGCCCTGGCCGCCATTTTTAACTTGCACTTGGATCAGACGCCATCTCGCCAGCCTATTCCCAGTGAGGGTCTTCAGCTGCATTTACCGCAGGTGAGGAACTATGCTGCTGCTTTAAAACACGGGGTCATTGCTCTTGGTAATGCTTCTAGACAGCATTTTAGTTTCAGGATTACTGTTGACTTTCCACCTTGACATCACTCTGTCCCCACCAGGAGGAGTTACTGGTAAGTCTGGCTGCTTGATTTCCATGGCCATGTGGCCACTGAGAAGCCGTCTGCATCCTAGTGCATGCTGGGTCTGTCGCAATGCAAGGCAGGGACACCTGAGACCCCGTCCACCAGAGCAGTGTTTACAACACTATCCATAACTCCCTTCCCGTTAGGCAACCCCCCCCATGACCCTCATCCCACAGCAAGCCTTTAGCAGGAGAGACGGAAGAAGAGCCCAGTCTTTGAAACCTTGCCCCCAGTTCAGCACCATTTTCCTTCAAAGGTCTCATCCAAGAATCTCACATTCAAGATAAGTGACACCAGCCCGTCAGCAGCTGAAAACCCAAGTCTGGGTCAAGATGGCAGCCTCTGGGCTCCCACATGACTGGCTGGTGGCTGTTTGCTGTTCCTAAGCCGAGGAGCCCATCAAAGCAGCGAATGAGCCAGCACAGCAGTGAGCACCTATCAGAGCGCAGGGAGGGAGGGGCCTCCAACAACTGTTCTAGGGCCTGCCAGTTGCCTGGGAGTCTCTACTTTGAATTTCCTACATGGGCTGTATGAGGACTTCCCCGCATGCCCAGGCTGGAGGTGGACAGCCACCCTTCCATTTGACCTCCCCAGCGCAGTGAAATCAGGATGAAGGAAGGGGAAGTTCCAGGGTGGGCTTAGATTGGCTTACGTGAAAGAGAAAAAGTAAAGGAGAAAATCACCTTTAGTTCTCATCTCTAAATCCTAAAACTCTCTGATTATGTATTCCTTCTTTTCTTGGAAATCCAAAGTTCTTCTGGTCTATTGCAAAAGTTATTTTTTTGACCCTCTATTCATTTATTACTTTGTATCAGAGTCTTCTTCACTTTGAAGATAACATGTATACTACCCTTGACCACAAGACTTGAAGGTGGCTTGTGTTCCCCTGGAAGAATCCAAGTGTCTTATAGTTTCTTTTTTGCTGTTGGCTACAATTAGAACAACCTCTGTGCAGTTGTAGTCTGAGATGACCAGGAGTTCTGTTTTAAAGGAAGGAAATGTATTTTATTTTGCCTAAAGGAATCAAATGCAACATCAGTATAAAATAATATATTCAAGGTATTTCACTGATTTTTTTAACGAACCAAATACTTGCTTCCCTTATTAACCTCTCGTCAACATTGTTTATAAGGATTATTAGTCCATTTGTACTTTAACAAATCAGTGCTACTAGATCCCATGTGATTTTTTATTTTCAGGATTACTCTTTGCTAAAATATTAAAGCCTGAGTTCAAAATATTGTCTGATGTGACTTGTCTTCCCTTAATATTGACAGAGTGGCATATAAGACCATTGAAATGACATCAAATGCCGTG
CCAAGGGCGAGGACTTGGTCCCTTTAAACATTCCCATGGATGAAGCTGATGAATATTTTCACAACTTTTCAGTTTGCTTAACGTAATGAGAATCTACCATTTTACACATGTAGTAGAAATAGACCCTAAAGCCACCATATGGGGCACTCGTAAATTGGTTTACAATTTTAGTAATATTTTGGTTACTTTAAAAAATACAGATTTTTGAAATCTAGTGGTAGATGTCTTTAACTTTCATTCACATTACAACCTTGCAGGGCACTGTAGCCCTCACCCTTGGGCTCCATGTGACAGCTGCCTAGCCATGATGGAAAGGAATTATTTCTTCTTCTCCTTTTTAAAAAGCTTGATGAACACTTTATACTCCTCTTTTTAAAATAAAAAATTAGGGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGACCAATGTGATGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTAGCCCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACCCCAGTCTCAAAAATACATACATACATACATACATACATACATACATACATACATACATGTATAAATCCATAAATAAATAAAATTTAAAAATTATGTTTATTTTGCCATGTAATTTTACAATTCTAAAATTGTCTGTATTAATTCAAAATCTGAAATACCTTTAAAAGTTAGGATAAACAAATTATTCTGGAAATTCATCAAATAATTGTTTTAAAAAAGACAAAATCACCAGAAAGTGTATTTATGAAGTTAGGAAGTTGTAACCTGCCTACAGCTTCAGTTTTGTGTCTTGTTCTTACACACTTTTCCTATCATGGAACGATATTAAGGATTCAGACTTAGTCAGCCCCCATATATAATATTCTCATTTTTAAATAGATACTAGAAATAAAACCATACCCTCCTAAACACAACAACTAAAAAGCCATAATACTTTACACAATTACATAAGCAGCTTTTAAAGATTGGTTCATAAACTAAATCAAATAATTGCATTTATTGATTGAATATTTTAAACCTGAAAAACTAATTATCTTGTGAATGCATGTTTTTAAATAGTTTTCTCTTCTGAGAGACGCTGCAATTTAAAACCCTTAGATAGCATGAGGGTAAACAACAGTGAAAGGAAGATGCTAAAATAAATATATATTTATCCATATATTGATATTAAATTGTCATTTCATTAGACTTATTAATGTAAGGTCTTTCTGGATTAATTTATCATCCCACATTTTGATAAGGTTGAAAAAGTCTAGGTACTTCAGAATATTCTCAGAAGAAAAAAAATTATTTAAAGATTTTACTTTTTAAAGCAAAAGCAGTTGGTGACACTAAATAGAAATGGTATTAGTCACTAAGCAAAGTGTCAGATTACTTGTTTAGTTGAGGCTGATAGTTCTTTAACTAAATGTATAACTCTTCATGTATACATCAAGGAATAAAATTTATAAGCACACATCACTTAACCAGTTACAAAGAGAGCTAAAGGAATCTATAAATTTTGCATTTACAAGATCCTGCAACGAAGGCATTGTAAGTTACTCTTTCTGGGCACCACAGGTTCCAGCAGCACTGATGTGAAGGAAAACCGCAATCTGGACAACGTGTCCCCCAAGGATGGCAGCACACCTGGGCCTGGCGAGGGCTCTCAGCTCTCCAATGGGGGTGGTGGTGGCCCCGGCAGAAAGCGGCCCCTGGAGGAGGGCAGCAATGGCCACTCCAAGTACCGCCTGAAGAAAAGGAGGAAAACACCAGGGCCCGTCCTCCCCAAGAACGCCCTGATGCAGCTGAATGAGATCAAGCCTGGTTTGCAGTACACACTCCTGTCCCAGACTGGGCCCGTGCACGCGCCTTTGTTTGTCATGTCTGTGGAGGTGAATGGCCAGGTTTTTGAGGGCTCTGGTCCCACAGAGAAAAAGGCAAAACTCCATGCTGCTGAGAAGGCCTTGAGGTCTTTCGTTCAGTTTCCTAATGCCTCTGAGGCCCACCTGGCCATGGGGAGGACCCTGTCTGTCAACACGGACTTCACATCTGACCAGGCCGACTTCCCTGACACGCTCTTCAATGGTTTTGAAACTCCTGACAAGGCGGAGCCTCCCTTTTACGTGGGCTCCAATGGGGATGACTCCTTCAGTTCCAGCGGGGACCTCAGCTTGTCTGCTTCCCCGGTGCCTGCCAGCCTAGCCCAGCCTCCTCTCCCTGTCTTACCACCATTCCCACCCCCGAGTGGGAAGAATCCCGTGATGATCTTGAACGAACTGCGCCCAGGACTCAAGTATGACTTCCTCTCCGAGAGCGGGGAGAGCCATGCCAAGAGCTTCGTCATGTCTGTGGTCGTGGATGGTCAGTTCTTTGAAGGCTCGGGGAGAAACAAGAAGCTTGCCAAGGCCCGGGCTGCGCAGTCTGCCCTGGCCGCCATTTTTAACTTGCACTTGGATCAGACGCCATCTCGCCAGCCTATTCCCAGTGAGGGTCTTCAGCTGCATTTACCGCAGGTGAGGAACTATGCTGCTGCTTTAAAACACGGGGTCATTGCTCTTGGTAATGCTTCTAGACAGCATTTTAGTTTCAGGATTACTGTTGACTTTCCACCTTGACATCACTCTGTCCCCACCAGGAGGAGTTACTGGTAAGTCTGGCTGCTTGATTTCCATGGCCATGTGGCCACTGAGAAGCCGTCTGCATCCTAGTGCATGCTGGGTCTGTCGCAATGCAAGGCAGGGACACCTGAGACCCCGTCCACCAGAGCAGTGTTTACAACACTATCCATAACTCCCTTCCCGTTAGGCAACCCCCCCCATGACCCTCATCCCACAGCAAGCCTTTAGCAGGAGAGACGGAAGAAGAGCCCAGTCTTTGAAACCTTGCCCCCAGTTCAGCACCATTTTCCTTCAAAGGTCTCATCCAAGAATCTCACATTCAAGATAAGTGACACCAGCCCGTCAGCAGCTGAAAACCCAAGTCTGGGTCAAGATGGCAGCCTCTGGGCTCCCACATGACTGGCTGGTGGCTGTTTGCTGTTCCTAAGCCGAGGAGCCCATCAAAGCAGCGAATGAGCCAGCACAGCAGTGAGCACCTATCAGAGCGCAGGGAGGGAGGGGCCTCCAACAACTGTTCTAGGGCCTGCCAGTTGCCTGGGAGTCTCTACTTTGAATTTCCTACATGGGCTGTATGAGGACTTCCCCGCATGCCCAGGCTGGAGGTGGACAGCCACCCTTCCATTTGACCTCCCCAGCGCAGTGAAATCAGGATGAAGGAAGGGGAAGTTCCAGGGTGGGCTTAGATTGGCTTACGTGAAAGAGAAAAAGTAAAGGAGAAAATCACCTTTAGTTCTCATCTCTAAATCCTAAAACTCTCTGATTATGTATTCCTTCTTTTCTTGGAAATCCAAAGTTCTTCTGGTCTATTGCAAAAGTTATTTTTTTGACCCTCTATTCATTTATTACTTTGTATCAGAGTCTTCTTCACTTTGAAGATAACATGTATACTACCCTTGACCACAAGACTTGAAGGTGGCTTGTGTTCCCCTGGAAGAATCCAAGTGTCTTATAGTTTCTTTTTTGCTGTTGGCTACAATTAGAACAACCTCTGTGCAGTTGTAGTCTGAGATGACCAGGAGTTCTGTTTTAAAGGAAGGAAATGTATTTTATTTTGCCTAAAGGAATCAAATGCAACATCAGTATAAAATAATATATTCAAGGTATTTCACTGATTTTTTTAACGAACCAAATACTTGCTTCCCTTATTAACCTCTCGTCAACATTGTTTATAAGGATTATTAGTCCATTTGTACTTTAACAAATCAGTGCTACTAGATCCCATGTGATTTTTTATTTTCAGGATTACTCTTTGCTAAAATATTAAAGCCTGAGTTCAAAATATTGTCTGATGTGACTTGTCTTCCCTTAATATTGACAGAGTGGCATATAAGACCATTGAAATGACATCAAATGCCGTG
Task1_train_28474
This mutation is located in gene ADARB1 (adenosine deaminase RNA specific B1) on Chromosome 21. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Neurodevelopmental disorder with hypotonia, microcephaly, and seizures
AAGTCTGTGTTTAAGACCATGTGATTTTGTTGTATGCTGTATAAATAGAAGTTCCCAAACTGCCAGGTAAAGATGGTAATTTTTATTCTAGTCACCGTTTCTAGAAAGAGCTAGTCATGTATCCAAACTCCTTTTCTTTACAAAGCCATTTTTTGTATGTGGTCTTTCTGTTCTGAAGTCATAAATTGGAAGAAGGAAAGGTTACTCACATCCTGATGACATATCCATTATTGAGTGACAAGAACTGTATTAATTACCCTAAACATGTAAAATAAATATTCCAGTTCAAACTTATCTTTCCCTTGTGGAAAATACTAGCCTCTGAAAATGATAGACTAAAATTTAACTATATACAGCTTTAAATGTTACTTTTGCAACTTTTTTCCTTTCAGTAACAAAGATGATCAAAAAAGATCCATCTTTCAGAAATCAGAGCGAGGGGGGTTTAGGCTGAAGGAGAATGTCCAGTTTCATCTGTACATCAGCACCTCTCCCTGTGGAGATGCCAGAATCTTCTCACCACATGAGCCAATCCTGGAAGGTATGAGACGAGATTCTTCAACAAGCCAGTTTCTCAAGAAAATGTTAACAGATAAAAACTAACCTGTGTTAATATCCCTTTTCCTTTTTTTCTTTTTATTTTTAGACTTGGATGTGGATCTGATAAGAGTCTCTATAAAAGCATGGATTTTTTTCTTTCCAATTAACTTAATTAGAAAACTTTAATGAATGAAAAATGCTGATTGTAATTAACCAAGTAATTAGAATGGAGTGAGAATATTGGATTAAAATTGTATCAGTATTTAAATTTGGGTAATAAATATCTCTAAATCAGAGGTGTATGTGATCCTCCATATTTCTGAGGAATTCTAATTTGCTAAATGTGTAATTAAAGTATTTATTTGCCTGATATTTCAGAAGCAGATAAACACTAGTGAAAAGTGAAACCACTATTGTGATCATATTTTTTTCCATCCTTCTTTACATTTGAGGTTAGCACTTTTGTTTTTTAGTGTTTTGTATCTACATCCCTTCTCCCAAGCCCTTAGGCATTGTTTATTCCAAATAGAACGTTTTATTACATTACTTTCCTTGTTTATAAAAGCAACAGGCATACTCACTGTGGAAAATTGCTAACTATTTTTAAAATATAAGAACATTAAAATCATCCGTATTCCTGTAACCCAGAAATACTCACTATGGATGTTTTACCATACTTTCCATGGGTTTATTTCTGCATCTGTCTAGATTTATTTTGGAAATTTTAAAAATATAGAGGAAAATAACATGGCAAACACCCAAGTATCCATCACCCAGAATTAGCAAATGTTAGCATTTTGTCCTATTTGCTTCAGTGCATTTTTAATGATAGAAATAAATCATTTCAGTTAAAGTGAAAACCCCATTTCCCCAACTCCCTTGGAGACCACTTTTGTGAATTTTGTTTGTGTTATGTCCTTCCTACTCAATTTCATATAATTTTTTTTTTTTTTTTTTGAGACAGGGTCTCGCTCTTACACCCAGGCTGGAGTGCAGTGGTGCAATCATGGCTCACTGCAGCCTCGACCTCCTGGGCTCTTAAGCGATCCTTCCACCTCAACCTTCCAAGGAGCTGGGACTACAGGCATGTACCACTATACCTGGCTAATTTTTATATTTTTTATAGAGATGGGGTTTCACCATGTTGCCCAGGCTGGTCTTAAACTCCTGGGCTCAAGCGATCCACCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCATACCCAGCCTCTCAGCTTCACATACTTATTTTGTATGTGTATTTTGTATGTATGGCATAAACATATGCATTTATATGCACAGACTGTATTTTAAATTTATAAGCTATTGTTAGATGTGCTTTTCAATAAATCAAATAGATGGTTTACTACCTGTGGGGTTTTAACTCTTTTTCTCTCTTAGAACCAGCAGATAGACACCCAAATCGTAAAGCAAGAGGACAGCTACGGACCAAAATAGAGTCTGGTGAGGGGACGATTCCAGTGCGCTCCAATGCGAGCATCCAAACGTGGGACGGGGTGCTGCAAGGGGAGCGGCTGCTCACCATGTCCTGCAGTGACAAGATTGCACGGTAAGGGGCGGGGGCTCCCTGTGGCCACCTCCCTGCACACAGGATTCATCCATACTGTTTGCCAACCTCCCTTTTCCACAACCATTTGAATTTTGGCCCCATTTCCCACTCAGGTGTTCCACAGTATTCTTTGAAGGACTGAGGTTCTAAACAGGTGCTGCTGGGACCCCCGTGAGGGGCAGCAGCAGGACCTAGACACAGGAGGCTCCACGCTTCTAACATTCCTATCCAAGCGTCTCAGAGTTTACCACTTATTTTTAACGTGGGCTTCTGGGTTAAACTGATGTTTTTAATGGGCTACAGGCCATGACATCTTAAAACTACTGGCTTCTCCTCATTAGTAGTAGATGCAACTTCAGTGGTCACTTTCATCATTCAGTTAACATTTTAGGTAGTTGATATGTGCATTTTAAAAGTAATGCAAACCCTGTCACAGGCATTGTGTTCTAAGCACAGAGAGCATCCCCAGCCATTCTGTGCCTGGGTGTGGGTTAGGCTTAGAGGAGGGCTCTGCAAGCACACTTCTGTAGTCAGCAGGCACCTGGGAGATATTCATCTTTCAGAGGCCTGTATCCAGAGCAGATTATAGAAAACCCATTTCTTCAGATGGTATCAGTTCCAGTAGTTCTTTGTTTTCATTTTTAAACTAATGTTTATTTGGAAAAAAAAAGTAACATAAGCAGATGGCAAAAAGCATACAATGATAAAGTTTAAAACCTCCCTCTTCAGAGCCCTCCTGTGGCACCCACAGTGAGTGGGTTTTGACTGTCCATCCAGAAGCTGTCAAAATTGATGCATACGCATGTGCACGTGCACATCTTTTCATTGTTTGTGTGCCCTTTATGTTGATTTCCTTCAGTGGGTCTTGTCAGGCAACCTCAAGTACAGGGAGCTGGATTAATCACACATTTTGGGCCATTGCCCACAGCCCAGGTGACCACTGTGATGTGTTTATTTATTATTTGTCCTTCCAGTCCACCTCCACACGTGCATATGTCAACTTTGTGTGTGTGTGATGTGGGGGAGGGGGGTGTACTCTTGAAAAATACACAATAGAATTATTTGGAGTATTTGTTGCTAATTTACAGAAATGATACTATGCTGTAAATCCTATCTGATTCTTACATTTTCATTCAACCTATATTTTTGGAGCTATTTCTGTTGCTCTAACCAACAGCCAGTTCACTACTGACTTTTGCAAATCTTCCTTCATAGTCATGGGCCATTTCCTTCATGATGGGACACCCATATTTCTTCTAACTCCCTTATACATGTAGTCCTGTATATCCTTCAACTTATGCAAACTCCATCACAATATTATAGACTTTGCTAGAGTTTCTTGGGGCATATATTCAGGAGTTATGCACATATATAACTTCACAGAATAATATCAGATTGCATCCCAGGGCAGTCACACTAGTTGACACTTACACCAATAGTGCATTAAGTTAGCTTCTCCCACATTCTGTAAACTGATATCTTCATAGTTTCAATTTTTATTTCTCTTTATCACTAGGAATGTTGGGCATCTCTTCAATTACATATTAACTGTTCATCTTACACCTTCTTTGAGTTGTCTGTTAATATCATTTGTTCATTTGTCTTTTGAATCTCATGCCTTTTTCCTCTTGATTTTCAGAGTTCCTTTTACAGTTGATATTGTAATCCTTAGCCCTTTGAGAAGATGCAGTGTCTTTTGCAAGTCCTTTCCCCTTTGAGTAGTCTTGCACTCTGTTGAAGATGATTTGAACATATACACAAGGGTTTATTACTGTGCTGTCTGTTCTATTCCATATGTCTATTCTTTATGCCAGTGTCATGCTGTTTTGATTACTGTAGCTTTGTAATATGTTTTGAAATGAGGAAGTTTGAATCCTCCAACTTTATTCTTCTTTTTTCAAAATCCTTTTGGCTATCCAGGGTCTCCTGATATTTCATAAAGATTTTTGGATGAAGTTTTTCAAAAAATGCCAT
AAGTCTGTGTTTAAGACCATGTGATTTTGTTGTATGCTGTATAAATAGAAGTTCCCAAACTGCCAGGTAAAGATGGTAATTTTTATTCTAGTCACCGTTTCTAGAAAGAGCTAGTCATGTATCCAAACTCCTTTTCTTTACAAAGCCATTTTTTGTATGTGGTCTTTCTGTTCTGAAGTCATAAATTGGAAGAAGGAAAGGTTACTCACATCCTGATGACATATCCATTATTGAGTGACAAGAACTGTATTAATTACCCTAAACATGTAAAATAAATATTCCAGTTCAAACTTATCTTTCCCTTGTGGAAAATACTAGCCTCTGAAAATGATAGACTAAAATTTAACTATATACAGCTTTAAATGTTACTTTTGCAACTTTTTTCCTTTCAGTAACAAAGATGATCAAAAAAGATCCATCTTTCAGAAATCAGAGCGAGGGGGGTTTAGGCTGAAGGAGAATGTCCAGTTTCATCTGTACATCAGCACCTCTCCCTGTGGAGATGCCAGAATCTTCTCACCACATGAGCCAATCCTGGAAGGTATGAGACGAGATTCTTCAACAAGCCAGTTTCTCAAGAAAATGTTAACAGATAAAAACTAACCTGTGTTAATATCCCTTTTCCTTTTTTTCTTTTTATTTTTAGACTTGGATGTGGATCTGATAAGAGTCTCTATAAAAGCATGGATTTTTTTCTTTCCAATTAACTTAATTAGAAAACTTTAATGAATGAAAAATGCTGATTGTAATTAACCAAGTAATTAGAATGGAGTGAGAATATTGGATTAAAATTGTATCAGTATTTAAATTTGGGTAATAAATATCTCTAAATCAGAGGTGTATGTGATCCTCCATATTTCTGAGGAATTCTAATTTGCTAAATGTGTAATTAAAGTATTTATTTGCCTGATATTTCAGAAGCAGATAAACACTAGTGAAAAGTGAAACCACTATTGTGATCATATTTTTTTCCATCCTTCTTTACATTTGAGGTTAGCACTTTTGTTTTTTAGTGTTTTGTATCTACATCCCTTCTCCCAAGCCCTTAGGCATTGTTTATTCCAAATAGAACGTTTTATTACATTACTTTCCTTGTTTATAAAAGCAACAGGCATACTCACTGTGGAAAATTGCTAACTATTTTTAAAATATAAGAACATTAAAATCATCCGTATTCCTGTAACCCAGAAATACTCACTATGGATGTTTTACCATACTTTCCATGGGTTTATTTCTGCATCTGTCTAGATTTATTTTGGAAATTTTAAAAATATAGAGGAAAATAACATGGCAAACACCCAAGTATCCATCACCCAGAATTAGCAAATGTTAGCATTTTGTCCTATTTGCTTCAGTGCATTTTTAATGATAGAAATAAATCATTTCAGTTAAAGTGAAAACCCCATTTCCCCAACTCCCTTGGAGACCACTTTTGTGAATTTTGTTTGTGTTATGTCCTTCCTACTCAATTTCATATAATTTTTTTTTTTTTTTTTTGAGACAGGGTCTCGCTCTTACACCCAGGCTGGAGTGCAGTGGTGCAATCATGGCTCACTGCAGCCTCGACCTCCTGGGCTCTTAAGCGATCCTTCCACCTCAACCTTCCAAGGAGCTGGGACTACAGGCATGTACCACTATACCTGGCTAATTTTTATATTTTTTATAGAGATGGGGTTTCACCATGTTGCCCAGGCTGGTCTTAAACTCCTGGGCTCAAGCGATCCACCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCATACCCAGCCTCTCAGCTTCACATACTTATTTTGTATGTGTATTTTGTATGTATGGCATAAACATATGCATTTATATGCACAGACTGTATTTTAAATTTATAAGCTATTGTTAGATGTGCTTTTCAATAAATCAAATAGATGGTTTACTACCTGTGGGGTTTTAACTCTTTTTCTCTCTTAGAACCAGCAGATAGACACCCAAATCGTAAAGCAAGAGGACAGCTACGGACCAAAATAGAGTCTGGTGAGGGGACGATTCCAGTGCGCTCCAATGCGGGCATCCAAACGTGGGACGGGGTGCTGCAAGGGGAGCGGCTGCTCACCATGTCCTGCAGTGACAAGATTGCACGGTAAGGGGCGGGGGCTCCCTGTGGCCACCTCCCTGCACACAGGATTCATCCATACTGTTTGCCAACCTCCCTTTTCCACAACCATTTGAATTTTGGCCCCATTTCCCACTCAGGTGTTCCACAGTATTCTTTGAAGGACTGAGGTTCTAAACAGGTGCTGCTGGGACCCCCGTGAGGGGCAGCAGCAGGACCTAGACACAGGAGGCTCCACGCTTCTAACATTCCTATCCAAGCGTCTCAGAGTTTACCACTTATTTTTAACGTGGGCTTCTGGGTTAAACTGATGTTTTTAATGGGCTACAGGCCATGACATCTTAAAACTACTGGCTTCTCCTCATTAGTAGTAGATGCAACTTCAGTGGTCACTTTCATCATTCAGTTAACATTTTAGGTAGTTGATATGTGCATTTTAAAAGTAATGCAAACCCTGTCACAGGCATTGTGTTCTAAGCACAGAGAGCATCCCCAGCCATTCTGTGCCTGGGTGTGGGTTAGGCTTAGAGGAGGGCTCTGCAAGCACACTTCTGTAGTCAGCAGGCACCTGGGAGATATTCATCTTTCAGAGGCCTGTATCCAGAGCAGATTATAGAAAACCCATTTCTTCAGATGGTATCAGTTCCAGTAGTTCTTTGTTTTCATTTTTAAACTAATGTTTATTTGGAAAAAAAAAGTAACATAAGCAGATGGCAAAAAGCATACAATGATAAAGTTTAAAACCTCCCTCTTCAGAGCCCTCCTGTGGCACCCACAGTGAGTGGGTTTTGACTGTCCATCCAGAAGCTGTCAAAATTGATGCATACGCATGTGCACGTGCACATCTTTTCATTGTTTGTGTGCCCTTTATGTTGATTTCCTTCAGTGGGTCTTGTCAGGCAACCTCAAGTACAGGGAGCTGGATTAATCACACATTTTGGGCCATTGCCCACAGCCCAGGTGACCACTGTGATGTGTTTATTTATTATTTGTCCTTCCAGTCCACCTCCACACGTGCATATGTCAACTTTGTGTGTGTGTGATGTGGGGGAGGGGGGTGTACTCTTGAAAAATACACAATAGAATTATTTGGAGTATTTGTTGCTAATTTACAGAAATGATACTATGCTGTAAATCCTATCTGATTCTTACATTTTCATTCAACCTATATTTTTGGAGCTATTTCTGTTGCTCTAACCAACAGCCAGTTCACTACTGACTTTTGCAAATCTTCCTTCATAGTCATGGGCCATTTCCTTCATGATGGGACACCCATATTTCTTCTAACTCCCTTATACATGTAGTCCTGTATATCCTTCAACTTATGCAAACTCCATCACAATATTATAGACTTTGCTAGAGTTTCTTGGGGCATATATTCAGGAGTTATGCACATATATAACTTCACAGAATAATATCAGATTGCATCCCAGGGCAGTCACACTAGTTGACACTTACACCAATAGTGCATTAAGTTAGCTTCTCCCACATTCTGTAAACTGATATCTTCATAGTTTCAATTTTTATTTCTCTTTATCACTAGGAATGTTGGGCATCTCTTCAATTACATATTAACTGTTCATCTTACACCTTCTTTGAGTTGTCTGTTAATATCATTTGTTCATTTGTCTTTTGAATCTCATGCCTTTTTCCTCTTGATTTTCAGAGTTCCTTTTACAGTTGATATTGTAATCCTTAGCCCTTTGAGAAGATGCAGTGTCTTTTGCAAGTCCTTTCCCCTTTGAGTAGTCTTGCACTCTGTTGAAGATGATTTGAACATATACACAAGGGTTTATTACTGTGCTGTCTGTTCTATTCCATATGTCTATTCTTTATGCCAGTGTCATGCTGTTTTGATTACTGTAGCTTTGTAATATGTTTTGAAATGAGGAAGTTTGAATCCTCCAACTTTATTCTTCTTTTTTCAAAATCCTTTTGGCTATCCAGGGTCTCCTGATATTTCATAAAGATTTTTGGATGAAGTTTTTCAAAAAATGCCAT
Task1_train_28475
Here is a variant affecting ADARB1 (adenosine deaminase RNA specific B1) on Chromosome 21. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Neurodevelopmental disorder with hypotonia, microcephaly, and seizures
AGCCCGAATGTTTCTCATCTGCCCTGGCCTCCCTGTCCCCACACTGCCCAGTCGACCTTCATTTCTGACCTGTACTGCTGAGCGTCTTCCCCTGCAGCGTGTGCTGAGCATCTTCCCCTGCAGTGCGTGCCACACTGTGCTGAGCGTCTAACCCTGCAGCGCGTGCCACACTGTGCTGAGCATCTTCCCCTGCAGCCTGTGCCACACTGTGCTGAGCGTCTTCCCCTGCAGCCTGTGCCACACTGTGCTGAGCGTCTTCCCCTGAAGCGCATGCCACACTGTGCTGAGCGTCTAACCCTGCAGCGCGTGCCACACTGTGCTGAGCGTCTTCCCTTGCAGCCTGTGCCACACTGTGCTGAGCGTCTTCCCCTGCAGCGTGTGCCACACTGCTGAGCGTGTAACCCTGCAGCGCGTGCCACACTGCTGACGCCACTTCGTAAAATGCGCATGCGCCAGCCCCTCCCCTGAGACACTCCATGAAATTAGATTGGGCCACTCCAGAGGCCTCTCTCTGCCATCTGAATACCGCCCCCTCCCTCATCAAGCTCCTGGCTGCTTAGGGGCCCCTGCCCTGCCCCTCTGCCCTGGCTGCCCTTGCTGCTGTCCTGTGTCCCCTGCCCCCCAGGCTGGGACATGCGTTCCTCCCTCAGCCTCACAGCCCCCTCCTTTGGGGCTAAGCTTCAGGGTCACCCCAGGAGCATTCCTTCAAGTACATACACCCCTTTTTCTTTTTCACAGAACCCCGCCCTTTCTCCCAAATTGATTTTACCTCAATTTATAGTTCTTCATTTGTCTTTTTATTGCATTATTGTTTAGCTCCTGAGCTGTATCTCCCCCCAGGTACTTCACACCCTGTGTATGTAGCGCCCAGCAAAGGGTGCTCCAGACACAGCAACTCCCAGGCTGAGCAGAGCATCTCTGCTCTTTGTGGGGCTCAGAAAGAGAGAACAGGCATATTGTGAAGGCATGTGTGTGTTGGAGCTGATAATGAATACCTAAGTTGCCATTGGCATGCATCATTGGTGTCATGCATGTCAGCTGCACACGTGCAGTCGCTGTAAATCCCCACACCCTACCTGCCTGTGCATTCAGTGCCATTGTCACTTGCAGAGAACAGGAAATAAGCAGTTTAATGTTTTGAAGGACCTCTTGAAGAGCTGTCCTTTTTTAAGAAGTATAGTGGTCCCCGCTTCTCCGTAGATGTGTCTCAAGACCCCCAGTAGACTCCTGAAACTGTAGATAGTACTGAACCCTGTACGTGCTGGTATTTTTCCTGTAAGTACCTTCCTATATAAAGTTTAATTTATGATTAGACACAGTAAGAAATTAACAGTCACTAATAATAAAATAAGAGTGACTTGAACACAAGCACAGTGATGCTGTGGCCATCAATCTTATCACCAAGGCGACTGCTAATGGGCCAGCGGCATCTGCAACGTGGATGGTTCACATCCCGGGCTGGACAGCACAAGATCGCACCACACTCCTCAGAACGGCATACAGTTGAAAGTCTGGAAGTGTTTATTTCTGGAATTTTTCATTTAATATCTTCAGATCACGGTTGACAGTGAGTAACTGAAACCTCTGAAAGTGAAACCTCAGATAAGGGGACCTGCTATAATTAAATATGTAATTTCCTTTCTGATATTTCCCACAGATTTCTCACAAGAAACATATGTGGCTCATTGATTGTGGGAAAACGTAATGGTAAAAACAAACACAGTGTAAAATAACTTTTAAGTAGATTTTTGTCTTTGTGATCGTAAGCTGCTAAATCAGTCTGTTAACTTTTTGTTGCACTCCTTCGTCAGTTGGTTGGGATCCTGCGGAATTGCCAGTGCATCCCTGTAACCACGCAGGCTTGGGCTGGGCTGCGTCGACACTGAGTCCGAGCTCCCTGAAGACTGTGCTTTCTTCTCCCTCCAGCTGGAACGTGGTGGGCATCCAGGGATCCCTGCTCAGCATTTTCGTGGAGCCCATTTACTTCTCGAGCATCATCCTGGGCAGCCTTTACCACGGGGACCACCTTTCCAGGGCCATGTACCAGCGGATCTCCAACATAGAGGACCTGCCACCTCTCTACACCCTCAACAAGCCTTTGCTCAGTGGCAAGTATCTCTAGAGTGTGCTGATTTAATCTCTGTCTTGATTTTGCAATGTTTTCATCCTCATGAATGAAAAAAACACCACCTGAGCTGCTCTGTGGCTATCAAAAGAACATCAGAGTCCTTCTAAAGAGACCCAAGGTGATGTTTCTGAGGCTCTCCGGGCCTTGTCTCTAGGGCCTTTTAAGTGAGTCTCTCTGTAAGATTAATCTCCTTTACCAATCACAAACCTAGCCATTCATAGAAGAATTGATGGGTTCACACCTGTCATCCCAACACTTTGGGAGGCCAAGGCCTAGTGGATTGCTTGAGCCCAGAAGTTCAAGACCAGCCTGAGAAAAATGGCAAAACCCCATCTCTACAAAAAATACAAAAAAATCAGCCAGATGAGGTGGGGCATGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGTCAAGGTTGCAGTAAGCCAAGATTGTACCACTGCACTCCAGCCTGGACAACAGAGTGAGACCCTGTCTTTAAAAGAAAGAAAGAAAGAAAGAAAGAAATGAAAAATGAAAAGAATGAAATTATGACTGGGCTGGGCACCTGTCTGTTTTCCTCTCACTCAGGCACTGTATTCATTCCTGTCTCAGCAGCAGAGACTCAACAGACACTGAAAATTATGTCAGCATTGGCTTTCCCAGACTAACCCTGAGCCAGGTCTCCGGGACGTTTACGCTGTCTTAGAGCCACCAGGGTGTCCACAGCGGTGAGCTGCCTAGAGCCTGCCCTGGGCTCCCTGGAGAGGCCCTGTTGGCTCCGAGAGATGGTGACAGGTGGAACCAGGGGTGCCAATGGCAGGCAGAGGCTGTCTCCCTGGTGTCTGCACCTACCCTCGATTCCCTTCATTGCTGGTTTTCTTTTTTCTTTTTTTAGAATTTCAGTGGCTAACAGTAAAGTGAACAGGAGCTTTTGAATTCAAAGGTCCTAACTTCTAAGCTCACCTTTATTTAAAAGGACACAGTTAAGGTATTTTTATCTTTTTAAACATATAATTTCACTACTTTTTTAAAAGCTCAAAACTAAAACCATAATCCTAACCTGAAACACGTTTATTTTGGGGTGTGTGTGTGCTTGTGTTTGTGCTGCCTTGTTTTCTAGTGCCTGGCAACTAGCACGCCTTTAATTTGAGAAAAAGCAGTGTGGAATTTTATTTGAAAGCATGCCTGTCAGAGCACATGAAGGAGGCAGGGATGGGGAAAAACAGTTGTCTTTAATTAAATTTTACAGTTCCGTAACTTAACCATTGTGTTTTAAGAAAAACAAAATAGATAAAACTTGATGGTAGGTAGGTTGAAATTGTAGCATCAATGTCTTTTGAAGTATTTTGTTGTGTATTGGTGTGTGAATTTCTCATGATTCAGAAAATTTCCCTCTTTGCTCTCTGTCTTCTGTACTTGAGCAAAGAGTGCTTTAATTTTAGCTGTCACTCATCTTTTATATGCATAGATACTTAAAACATTGCATGTGGAATATGGGACACATAGGTGATACTCAAAAATAGTTGTTAATTAGGGCCTTGTTGAATAGCGCTGTCTAAGCAATATCTCATCCGTAACTAAAATCTGCAAAGACAGAATCATTTTGCTAAAGAAATTTTCTAAGATATTGAAAGTAGAGCTCATTTATAAAAGTCAGTGTATTTTTATCATATTTCACTTATGTGAAAAGCATCTATATCTGTTAAAAGACCTTGAAAGATAGTGTCTGCAAGATAGAGACTTCAAAGTTACTGATGCTGCTGTTTATCCTTTCCTCCTCAATATCTTCTCTGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAGCCTCCACTTCCCAGGTTCAAGCAATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGTGC
AGCCCGAATGTTTCTCATCTGCCCTGGCCTCCCTGTCCCCACACTGCCCAGTCGACCTTCATTTCTGACCTGTACTGCTGAGCGTCTTCCCCTGCAGCGTGTGCTGAGCATCTTCCCCTGCAGTGCGTGCCACACTGTGCTGAGCGTCTAACCCTGCAGCGCGTGCCACACTGTGCTGAGCATCTTCCCCTGCAGCCTGTGCCACACTGTGCTGAGCGTCTTCCCCTGCAGCCTGTGCCACACTGTGCTGAGCGTCTTCCCCTGAAGCGCATGCCACACTGTGCTGAGCGTCTAACCCTGCAGCGCGTGCCACACTGTGCTGAGCGTCTTCCCTTGCAGCCTGTGCCACACTGTGCTGAGCGTCTTCCCCTGCAGCGTGTGCCACACTGCTGAGCGTGTAACCCTGCAGCGCGTGCCACACTGCTGACGCCACTTCGTAAAATGCGCATGCGCCAGCCCCTCCCCTGAGACACTCCATGAAATTAGATTGGGCCACTCCAGAGGCCTCTCTCTGCCATCTGAATACCGCCCCCTCCCTCATCAAGCTCCTGGCTGCTTAGGGGCCCCTGCCCTGCCCCTCTGCCCTGGCTGCCCTTGCTGCTGTCCTGTGTCCCCTGCCCCCCAGGCTGGGACATGCGTTCCTCCCTCAGCCTCACAGCCCCCTCCTTTGGGGCTAAGCTTCAGGGTCACCCCAGGAGCATTCCTTCAAGTACATACACCCCTTTTTCTTTTTCACAGAACCCCGCCCTTTCTCCCAAATTGATTTTACCTCAATTTATAGTTCTTCATTTGTCTTTTTATTGCATTATTGTTTAGCTCCTGAGCTGTATCTCCCCCCAGGTACTTCACACCCTGTGTATGTAGCGCCCAGCAAAGGGTGCTCCAGACACAGCAACTCCCAGGCTGAGCAGAGCATCTCTGCTCTTTGTGGGGCTCAGAAAGAGAGAACAGGCATATTGTGAAGGCATGTGTGTGTTGGAGCTGATAATGAATACCTAAGTTGCCATTGGCATGCATCATTGGTGTCATGCATGTCAGCTGCACACGTGCAGTCGCTGTAAATCCCCACACCCTACCTGCCTGTGCATTCAGTGCCATTGTCACTTGCAGAGAACAGGAAATAAGCAGTTTAATGTTTTGAAGGACCTCTTGAAGAGCTGTCCTTTTTTAAGAAGTATAGTGGTCCCCGCTTCTCCGTAGATGTGTCTCAAGACCCCCAGTAGACTCCTGAAACTGTAGATAGTACTGAACCCTGTACGTGCTGGTATTTTTCCTGTAAGTACCTTCCTATATAAAGTTTAATTTATGATTAGACACAGTAAGAAATTAACAGTCACTAATAATAAAATAAGAGTGACTTGAACACAAGCACAGTGATGCTGTGGCCATCAATCTTATCACCAAGGCGACTGCTAATGGGCCAGCGGCATCTGCAACGTGGATGGTTCACATCCCGGGCTGGACAGCACAAGATCGCACCACACTCCTCAGAACGGCATACAGTTGAAAGTCTGGAAGTGTTTATTTCTGGAATTTTTCATTTAATATCTTCAGATCACGGTTGACAGTGAGTAACTGAAACCTCTGAAAGTGAAACCTCAGATAAGGGGACCTGCTATAATTAAATATGTAATTTCCTTTCTGATATTTCCCACAGATTTCTCACAAGAAACATATGTGGCTCATTGATTGTGGGAAAACGTAATGGTAAAAACAAACACAGTGTAAAATAACTTTTAAGTAGATTTTTGTCTTTGTGATCGTAAGCTGCTAAATCAGTCTGTTAACTTTTTGTTGCACTCCTTCGTCAGTTGGTTGGGATCCTGCGGAATTGCCAGTGCATCCCTGTAACCACGCAGGCTTGGGCTGGGCTGCGTCGACACTGAGTCCGAGCTCCCTGAAGACTGTGCTTTCTTCTCCCTCCAGCTGGAACGTGGTGGGCATCCAGGGATCCCTGCTCAGCATTTTCGTGGAGCCCATTTACTTCTCGAGCATCATCCTGGGCAGCCTTTACCACGGGGACCACCTTTCCAGGGCCATGTACCAGCAGATCTCCAACATAGAGGACCTGCCACCTCTCTACACCCTCAACAAGCCTTTGCTCAGTGGCAAGTATCTCTAGAGTGTGCTGATTTAATCTCTGTCTTGATTTTGCAATGTTTTCATCCTCATGAATGAAAAAAACACCACCTGAGCTGCTCTGTGGCTATCAAAAGAACATCAGAGTCCTTCTAAAGAGACCCAAGGTGATGTTTCTGAGGCTCTCCGGGCCTTGTCTCTAGGGCCTTTTAAGTGAGTCTCTCTGTAAGATTAATCTCCTTTACCAATCACAAACCTAGCCATTCATAGAAGAATTGATGGGTTCACACCTGTCATCCCAACACTTTGGGAGGCCAAGGCCTAGTGGATTGCTTGAGCCCAGAAGTTCAAGACCAGCCTGAGAAAAATGGCAAAACCCCATCTCTACAAAAAATACAAAAAAATCAGCCAGATGAGGTGGGGCATGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGTCAAGGTTGCAGTAAGCCAAGATTGTACCACTGCACTCCAGCCTGGACAACAGAGTGAGACCCTGTCTTTAAAAGAAAGAAAGAAAGAAAGAAAGAAATGAAAAATGAAAAGAATGAAATTATGACTGGGCTGGGCACCTGTCTGTTTTCCTCTCACTCAGGCACTGTATTCATTCCTGTCTCAGCAGCAGAGACTCAACAGACACTGAAAATTATGTCAGCATTGGCTTTCCCAGACTAACCCTGAGCCAGGTCTCCGGGACGTTTACGCTGTCTTAGAGCCACCAGGGTGTCCACAGCGGTGAGCTGCCTAGAGCCTGCCCTGGGCTCCCTGGAGAGGCCCTGTTGGCTCCGAGAGATGGTGACAGGTGGAACCAGGGGTGCCAATGGCAGGCAGAGGCTGTCTCCCTGGTGTCTGCACCTACCCTCGATTCCCTTCATTGCTGGTTTTCTTTTTTCTTTTTTTAGAATTTCAGTGGCTAACAGTAAAGTGAACAGGAGCTTTTGAATTCAAAGGTCCTAACTTCTAAGCTCACCTTTATTTAAAAGGACACAGTTAAGGTATTTTTATCTTTTTAAACATATAATTTCACTACTTTTTTAAAAGCTCAAAACTAAAACCATAATCCTAACCTGAAACACGTTTATTTTGGGGTGTGTGTGTGCTTGTGTTTGTGCTGCCTTGTTTTCTAGTGCCTGGCAACTAGCACGCCTTTAATTTGAGAAAAAGCAGTGTGGAATTTTATTTGAAAGCATGCCTGTCAGAGCACATGAAGGAGGCAGGGATGGGGAAAAACAGTTGTCTTTAATTAAATTTTACAGTTCCGTAACTTAACCATTGTGTTTTAAGAAAAACAAAATAGATAAAACTTGATGGTAGGTAGGTTGAAATTGTAGCATCAATGTCTTTTGAAGTATTTTGTTGTGTATTGGTGTGTGAATTTCTCATGATTCAGAAAATTTCCCTCTTTGCTCTCTGTCTTCTGTACTTGAGCAAAGAGTGCTTTAATTTTAGCTGTCACTCATCTTTTATATGCATAGATACTTAAAACATTGCATGTGGAATATGGGACACATAGGTGATACTCAAAAATAGTTGTTAATTAGGGCCTTGTTGAATAGCGCTGTCTAAGCAATATCTCATCCGTAACTAAAATCTGCAAAGACAGAATCATTTTGCTAAAGAAATTTTCTAAGATATTGAAAGTAGAGCTCATTTATAAAAGTCAGTGTATTTTTATCATATTTCACTTATGTGAAAAGCATCTATATCTGTTAAAAGACCTTGAAAGATAGTGTCTGCAAGATAGAGACTTCAAAGTTACTGATGCTGCTGTTTATCCTTTCCTCCTCAATATCTTCTCTGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAGCCTCCACTTCCCAGGTTCAAGCAATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGTGC
Task1_train_28476
A mutation found in ADARB1 (adenosine deaminase RNA specific B1) on Chromosome 21 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Neurodevelopmental disorder with hypotonia, microcephaly, and seizures
GTGTGCTGCTTCTGGCCAGTGGGCTTGACAGTTCAGTGTCTGGGTTCAGAATATGAGTCTGCCCATGTTCTAAGCATGTTCTAAAGATTCATATCCCAAATTAGTTTTGATTTTGGTGGCCTATAACATCCATGTGATATGAATTATCAAGCTCAATATATAAATGCAGATACATGTATTCAATTCCGAGTTATGCAAGTGTCTTTTTAAAAACTTTCAACCCTGCAGAATTAGCCTGTGATTAGTTAAGATGAGATCGTTTAAACACAGCAAGAAAATAAGTACAAGGGTACTTCAAAAAGTTCATAAAGTTAAAAGATAAAAAAATGTTTAAAGATATAAACATTATTTCTCAACATAAGCTCCATCAAATTCAAGACATTTTTGTAAGTGCTGATCCTAGCCATTTAGATTGTCCCTAAAGAACTGAATGGTGGCTAGGTGTGGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGAAGATCATGAAGTCAGGAGATTGAGACCATCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACCAGCTGGGCATGGTGGCACGCGCCTGTAGTCCCAGGTACTTGGGAGGCAGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGCAAGCCAAGATCGCACCACACACTCCAGCCTGGCAACAAGAGTGAGACTCCGTCTCGAAAAAAAGAACTGAATGTCTTGGGAGTTTAACCATGTCAGTGCAGTCTTTCTTACATTAGTAACTGAAGAAAAATTCCTTAAGCATGCCCCTTAAGGAATTTTTGAGATTAGGAAACAAAAAGAAGTCAGAAGGAGCCAAATGAGGTGGATTTGCAACCACCATAAGGTGGATGGCTCATGATTTCCTCTCGAAACCCTCACACACTTGCCCTTGTTTGATGAGAGGAATAAATAGGCGCTTTGTCATGGTGAAGGTCTCTGGCGAAGCTTCCCCAGGGGGTTTCTGCTAAAGCTTTGGCTCACTTTCTTGAAACACTGTCATCATAAGCAGATATTACCATCCTTTGGCCCTCCATGTGAACCCAACAAGCAAAACGCCTTGAGCATCCCAAAAATGCTGCCATGGCCTGTGCTTTGGCCAGTCAGCCTGTGCTTTGACTGGGCCCCTTCTGCCTCTTGGTAGCCTTTTTTTTTTTTTTTTTTGGATTATGCATTTTCTTCAGGATTGTCTTTGTAAAAGCTATTTTTATCTCCTGTTTGATGTTTGTTCTTGCTTCAATTTTAGCAGAAGTCATGTAGCTCTGATAGGAGCGCTTTTCAAACAGATGTCTTAATCTTCTTAGTGCCTCAAACTAGATCCTATTCAGACATGTTTCAGCAAGTTAGTACAAGTTTATTTTGGTGCCAAAAAATTTTGAAATCCATGAGGTTTTTTCATAATAAGCATTTTCCATGAACTTTTTCAAGACTCTTGTTAAGAATTAGGGTTTCCTATTGCATCATGGATGTCACACATGCAAAGCCACGTGACCTGAACATGCCTGGCCTCTCAGTGGCAGGGGAGCACATGCAGGCATGAGCGCCAGAGGTGGTGTGATACAGGAGCAACCCCCACCTGCACGACCTCATGGGACCCTGCATTAGTCTCAGAAGTGGCTCCCACCCATCCACTCTCAGGCTGCCAAGGTTCCTGGCTCCGTCAGTGCCAGAGTGAGAAAAGACACACTTGTCAGGAAGTCTCATGATTTCAGGTTTCTGTCAATCTTCTGCCCACCTGCCCTGTCAGACAAGTGCATACCCGTGGGTCAGTTCTGCTTTCTCAGCACTGCTCCTATTCTGGTGGCCGTGGAAGAGTGTGAGGCCACTGCCACGGCAGATGCACGCTCAAGTCTGCGTATATTCCTCGGCAGGCAGAATTCCCCCACCACGCACTTCTGTGGCCATGTCTGAGCACAGTGTGCCGCCCGTGGCTGCTCCCTCCCTGGGGGTGAAAGCGGGCTTCACACCACCTTCCTGTGTCTTCCGTTTCAGGCATCAGCAATGCAGAAGCACGGCAGCCAGGGAAGGCCCCCAACTTCAGTGTCAACTGGACGGTAGGCGACTCCGCTATTGAGGTCATCAACGCCACGACTGGGAAGGATGAGCTGGGCCGCGCGTCCCGCCTGTGTAAGCACGCGTTGTACTGTCGCTGGATGCGTGTGCACGGCAAGGTACTGAGGCGCCCTCACCGCAATGCGCCGGCTCCACCTCCCCAATAGCTTGTCTGTCCTCACACCTACTGTTCCTTAAGTTGTTTCATCATGTCATCATGCACAGCTTCCGAAAACGATCACTTGGAATGATTCTTCCTTCAGATTGTTTTAGCTTAGAAGTGTGGCTACGTCCCTGAAACCTTAATGCCATCTCAAAGGCAGCTCTTTTCCTCCCTGCTGCAGGGTAACACCCACTGCCAGGCCACTGTGTGTGGTGGAAACGTCTCTTACTCTCAGATATTGAAAGTCATTATGCAAAACGCAGGGCCAGTCACCCTGCTGTCCCCTCCTTCTCAGCAACATAAAAATTGCTTGGATTGTGATAACCCTCCAGTGGAGTTTTTAAACCTTTTGAATTAGCTGTGGGGCCCTTTTTTCCCCAGAATAAAACTTTATATAGTAAGTCAGGGTATTACTAGTTTGTGTGTATTCTTCAGTCAAGTAGATGGCATCTGTTTATTCTGAGACCAGCATTGTGCACTGGCATGGGAGGTATAGCCAGAAGGGACAGTGCCCGGGAGGGTCCTGTTCACCAGGGGCAGCACCCAGGCCAGCTGCCACAAGTCCAAGGTCCACACAGAAGGAGTTACTGGCCGCATGAGGGAAGGCCTCCGAGGTCATCAGGGTGATGACACACATAACATCCGTGGTGCTTCTTAGAGTTAAAAATGAAACGTGAATCCACTATTGGTGGTTTCCCAGAAGCATGTCTTCAGAACTCGGGGGTCTGTAGCTGCCTGTTTGACCAGCAAGACTGGAACTTGGCAATAACTCAGCCCTTAGGAGACGCCGCACCTTGTTCTGTGTGAAGCCGTTCCCTTGGCAGAAGGCGCCTTCCTCTGGGTTGCTTTCCCCCCAGAAGCCAATGCAGTTCTGAAGGCCATGTTTTGGTATCTTATTAGGTGTTGTTTTCATCTGTTACAGCGTCAACAGTTGCATTTGTTTTTTTATCCCTTCACAGGTTCCCTCCCACTTACTACGCTCCAAGATTACCAAGCCCAACGTGTACCATGAGTCCAAGCTGGCGGCAAAGGAGTACCAGGCCGCCAAGGCGCGTCTGTTCACAGCCTTCATCAAGGCGGGGCTGGGGGCCTGGGTGGAGAAGCCCACCGAGCAGGACCAGTTCTCACTCACGCCCTGACCCGGGCAGACATGATGGGGGGTGCAGGGGGCTGTGGGCATCCAGCGTCATCCTCCAGAACCTCACATCTGAACTGGGGGCAGGTGCATACCTTGGGGAGGGAGTAGGGGGACACGGGGGACCACCAGGTGTCCACGGTTGTCCCCAGCATCTCACATCAGACCTGGGGCAGGTGCGCAGTGTGGGGAGGGGATGGGGTGCGTCAGGGCCCAGCATCGCCGCCTGGCATCTCTCTGCCGCAGCATTTCCCCTTCTGAACCGTCCAGTGACTGCTTTCAATCTCGGTTTACGTTTAGAAATTGAGTTCTACTGAGTAGGGCTTCCTTAAGTTTAGGAAAATAGAAATTACTTTGTGTGAAATTCTTGAATAAATAATTTATTCAGAGCTAGGAATGTGGTTTATAAAATAGGAAGTAATTGTGTCAGGTCACTTTTATGCCACATTATTTTAATTGCAAAAAAGCATCTATATATGGAGGAGGGTGGGAAAATAGAGGTAGGAAATAGTAGCCTAAAGGAAATCGCCACACGTCTGTCTAAACTTAGGTCTCTTTTCTCCGTAGGTACCTCCCTGGGTAGTTCCACACACTAGGTTGTAACAGTCTCTCCCTGAGGAGCAGACTCCCAGCATGGTGTAGCGTGGCCCTGTCATGCACATGGGGTCCCGCAGCAGTGACTGTGTGTCCTGCAGAGGCGTGACCCAGGCC
GTGTGCTGCTTCTGGCCAGTGGGCTTGACAGTTCAGTGTCTGGGTTCAGAATATGAGTCTGCCCATGTTCTAAGCATGTTCTAAAGATTCATATCCCAAATTAGTTTTGATTTTGGTGGCCTATAACATCCATGTGATATGAATTATCAAGCTCAATATATAAATGCAGATACATGTATTCAATTCCGAGTTATGCAAGTGTCTTTTTAAAAACTTTCAACCCTGCAGAATTAGCCTGTGATTAGTTAAGATGAGATCGTTTAAACACAGCAAGAAAATAAGTACAAGGGTACTTCAAAAAGTTCATAAAGTTAAAAGATAAAAAAATGTTTAAAGATATAAACATTATTTCTCAACATAAGCTCCATCAAATTCAAGACATTTTTGTAAGTGCTGATCCTAGCCATTTAGATTGTCCCTAAAGAACTGAATGGTGGCTAGGTGTGGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGAAGATCATGAAGTCAGGAGATTGAGACCATCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACCAGCTGGGCATGGTGGCACGCGCCTGTAGTCCCAGGTACTTGGGAGGCAGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGCAAGCCAAGATCGCACCACACACTCCAGCCTGGCAACAAGAGTGAGACTCCGTCTCGAAAAAAAGAACTGAATGTCTTGGGAGTTTAACCATGTCAGTGCAGTCTTTCTTACATTAGTAACTGAAGAAAAATTCCTTAAGCATGCCCCTTAAGGAATTTTTGAGATTAGGAAACAAAAAGAAGTCAGAAGGAGCCAAATGAGGTGGATTTGCAACCACCATAAGGTGGATGGCTCATGATTTCCTCTCGAAACCCTCACACACTTGCCCTTGTTTGATGAGAGGAATAAATAGGCGCTTTGTCATGGTGAAGGTCTCTGGCGAAGCTTCCCCAGGGGGTTTCTGCTAAAGCTTTGGCTCACTTTCTTGAAACACTGTCATCATAAGCAGATATTACCATCCTTTGGCCCTCCATGTGAACCCAACAAGCAAAACGCCTTGAGCATCCCAAAAATGCTGCCATGGCCTGTGCTTTGGCCAGTCAGCCTGTGCTTTGACTGGGCCCCTTCTGCCTCTTGGTAGCCTTTTTTTTTTTTTTTTTTGGATTATGCATTTTCTTCAGGATTGTCTTTGTAAAAGCTATTTTTATCTCCTGTTTGATGTTTGTTCTTGCTTCAATTTTAGCAGAAGTCATGTAGCTCTGATAGGAGCGCTTTTCAAACAGATGTCTTAATCTTCTTAGTGCCTCAAACTAGATCCTATTCAGACATGTTTCAGCAAGTTAGTACAAGTTTATTTTGGTGCCAAAAAATTTTGAAATCCATGAGGTTTTTTCATAATAAGCATTTTCCATGAACTTTTTCAAGACTCTTGTTAAGAATTAGGGTTTCCTATTGCATCATGGATGTCACACATGCAAAGCCACGTGACCTGAACATGCCTGGCCTCTCAGTGGCAGGGGAGCACATGCAGGCATGAGCGCCAGAGGTGGTGTGATACAGGAGCAACCCCCACCTGCACGACCTCATGGGACCCTGCATTAGTCTCAGAAGTGGCTCCCACCCATCCACTCTCAGGCTGCCAAGGTTCCTGGCTCCGTCAGTGCCAGAGTGAGAAAAGACACACTTGTCAGGAAGTCTCATGATTTCAGGTTTCTGTCAATCTTCTGCCCACCTGCCCTGTCAGACAAGTGCATACCCGTGGGTCAGTTCTGCTTTCTCAGCACTGCTCCTATTCTGGTGGCCGTGGAAGAGTGTGAGGCCACTGCCACGGCAGATGCACGCTCAAGTCTGCGTATATTCCTCGGCAGGCAGAATTCCCCCACCACGCACTTCTGTGGCCATGTCTGAGCACAGTGTGCCGCCCGTGGCTGCTCCCTCCCTGGGGGTGAAAGCGGGCTTCACACCACCTTCCTGTGTCTTCCGTTTCAGGCATCAGCAATGCAGAAGCACAGCAGCCAGGGAAGGCCCCCAACTTCAGTGTCAACTGGACGGTAGGCGACTCCGCTATTGAGGTCATCAACGCCACGACTGGGAAGGATGAGCTGGGCCGCGCGTCCCGCCTGTGTAAGCACGCGTTGTACTGTCGCTGGATGCGTGTGCACGGCAAGGTACTGAGGCGCCCTCACCGCAATGCGCCGGCTCCACCTCCCCAATAGCTTGTCTGTCCTCACACCTACTGTTCCTTAAGTTGTTTCATCATGTCATCATGCACAGCTTCCGAAAACGATCACTTGGAATGATTCTTCCTTCAGATTGTTTTAGCTTAGAAGTGTGGCTACGTCCCTGAAACCTTAATGCCATCTCAAAGGCAGCTCTTTTCCTCCCTGCTGCAGGGTAACACCCACTGCCAGGCCACTGTGTGTGGTGGAAACGTCTCTTACTCTCAGATATTGAAAGTCATTATGCAAAACGCAGGGCCAGTCACCCTGCTGTCCCCTCCTTCTCAGCAACATAAAAATTGCTTGGATTGTGATAACCCTCCAGTGGAGTTTTTAAACCTTTTGAATTAGCTGTGGGGCCCTTTTTTCCCCAGAATAAAACTTTATATAGTAAGTCAGGGTATTACTAGTTTGTGTGTATTCTTCAGTCAAGTAGATGGCATCTGTTTATTCTGAGACCAGCATTGTGCACTGGCATGGGAGGTATAGCCAGAAGGGACAGTGCCCGGGAGGGTCCTGTTCACCAGGGGCAGCACCCAGGCCAGCTGCCACAAGTCCAAGGTCCACACAGAAGGAGTTACTGGCCGCATGAGGGAAGGCCTCCGAGGTCATCAGGGTGATGACACACATAACATCCGTGGTGCTTCTTAGAGTTAAAAATGAAACGTGAATCCACTATTGGTGGTTTCCCAGAAGCATGTCTTCAGAACTCGGGGGTCTGTAGCTGCCTGTTTGACCAGCAAGACTGGAACTTGGCAATAACTCAGCCCTTAGGAGACGCCGCACCTTGTTCTGTGTGAAGCCGTTCCCTTGGCAGAAGGCGCCTTCCTCTGGGTTGCTTTCCCCCCAGAAGCCAATGCAGTTCTGAAGGCCATGTTTTGGTATCTTATTAGGTGTTGTTTTCATCTGTTACAGCGTCAACAGTTGCATTTGTTTTTTTATCCCTTCACAGGTTCCCTCCCACTTACTACGCTCCAAGATTACCAAGCCCAACGTGTACCATGAGTCCAAGCTGGCGGCAAAGGAGTACCAGGCCGCCAAGGCGCGTCTGTTCACAGCCTTCATCAAGGCGGGGCTGGGGGCCTGGGTGGAGAAGCCCACCGAGCAGGACCAGTTCTCACTCACGCCCTGACCCGGGCAGACATGATGGGGGGTGCAGGGGGCTGTGGGCATCCAGCGTCATCCTCCAGAACCTCACATCTGAACTGGGGGCAGGTGCATACCTTGGGGAGGGAGTAGGGGGACACGGGGGACCACCAGGTGTCCACGGTTGTCCCCAGCATCTCACATCAGACCTGGGGCAGGTGCGCAGTGTGGGGAGGGGATGGGGTGCGTCAGGGCCCAGCATCGCCGCCTGGCATCTCTCTGCCGCAGCATTTCCCCTTCTGAACCGTCCAGTGACTGCTTTCAATCTCGGTTTACGTTTAGAAATTGAGTTCTACTGAGTAGGGCTTCCTTAAGTTTAGGAAAATAGAAATTACTTTGTGTGAAATTCTTGAATAAATAATTTATTCAGAGCTAGGAATGTGGTTTATAAAATAGGAAGTAATTGTGTCAGGTCACTTTTATGCCACATTATTTTAATTGCAAAAAAGCATCTATATATGGAGGAGGGTGGGAAAATAGAGGTAGGAAATAGTAGCCTAAAGGAAATCGCCACACGTCTGTCTAAACTTAGGTCTCTTTTCTCCGTAGGTACCTCCCTGGGTAGTTCCACACACTAGGTTGTAACAGTCTCTCCCTGAGGAGCAGACTCCCAGCATGGTGTAGCGTGGCCCTGTCATGCACATGGGGTCCCGCAGCAGTGACTGTGTGTCCTGCAGAGGCGTGACCCAGGCC
Task1_train_28477
A genetic alteration is present in ADARB1 (adenosine deaminase RNA specific B1) on Chromosome 21. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Neurodevelopmental disorder with hypotonia, microcephaly, and seizures
AGCAGAAGTCATGTAGCTCTGATAGGAGCGCTTTTCAAACAGATGTCTTAATCTTCTTAGTGCCTCAAACTAGATCCTATTCAGACATGTTTCAGCAAGTTAGTACAAGTTTATTTTGGTGCCAAAAAATTTTGAAATCCATGAGGTTTTTTCATAATAAGCATTTTCCATGAACTTTTTCAAGACTCTTGTTAAGAATTAGGGTTTCCTATTGCATCATGGATGTCACACATGCAAAGCCACGTGACCTGAACATGCCTGGCCTCTCAGTGGCAGGGGAGCACATGCAGGCATGAGCGCCAGAGGTGGTGTGATACAGGAGCAACCCCCACCTGCACGACCTCATGGGACCCTGCATTAGTCTCAGAAGTGGCTCCCACCCATCCACTCTCAGGCTGCCAAGGTTCCTGGCTCCGTCAGTGCCAGAGTGAGAAAAGACACACTTGTCAGGAAGTCTCATGATTTCAGGTTTCTGTCAATCTTCTGCCCACCTGCCCTGTCAGACAAGTGCATACCCGTGGGTCAGTTCTGCTTTCTCAGCACTGCTCCTATTCTGGTGGCCGTGGAAGAGTGTGAGGCCACTGCCACGGCAGATGCACGCTCAAGTCTGCGTATATTCCTCGGCAGGCAGAATTCCCCCACCACGCACTTCTGTGGCCATGTCTGAGCACAGTGTGCCGCCCGTGGCTGCTCCCTCCCTGGGGGTGAAAGCGGGCTTCACACCACCTTCCTGTGTCTTCCGTTTCAGGCATCAGCAATGCAGAAGCACGGCAGCCAGGGAAGGCCCCCAACTTCAGTGTCAACTGGACGGTAGGCGACTCCGCTATTGAGGTCATCAACGCCACGACTGGGAAGGATGAGCTGGGCCGCGCGTCCCGCCTGTGTAAGCACGCGTTGTACTGTCGCTGGATGCGTGTGCACGGCAAGGTACTGAGGCGCCCTCACCGCAATGCGCCGGCTCCACCTCCCCAATAGCTTGTCTGTCCTCACACCTACTGTTCCTTAAGTTGTTTCATCATGTCATCATGCACAGCTTCCGAAAACGATCACTTGGAATGATTCTTCCTTCAGATTGTTTTAGCTTAGAAGTGTGGCTACGTCCCTGAAACCTTAATGCCATCTCAAAGGCAGCTCTTTTCCTCCCTGCTGCAGGGTAACACCCACTGCCAGGCCACTGTGTGTGGTGGAAACGTCTCTTACTCTCAGATATTGAAAGTCATTATGCAAAACGCAGGGCCAGTCACCCTGCTGTCCCCTCCTTCTCAGCAACATAAAAATTGCTTGGATTGTGATAACCCTCCAGTGGAGTTTTTAAACCTTTTGAATTAGCTGTGGGGCCCTTTTTTCCCCAGAATAAAACTTTATATAGTAAGTCAGGGTATTACTAGTTTGTGTGTATTCTTCAGTCAAGTAGATGGCATCTGTTTATTCTGAGACCAGCATTGTGCACTGGCATGGGAGGTATAGCCAGAAGGGACAGTGCCCGGGAGGGTCCTGTTCACCAGGGGCAGCACCCAGGCCAGCTGCCACAAGTCCAAGGTCCACACAGAAGGAGTTACTGGCCGCATGAGGGAAGGCCTCCGAGGTCATCAGGGTGATGACACACATAACATCCGTGGTGCTTCTTAGAGTTAAAAATGAAACGTGAATCCACTATTGGTGGTTTCCCAGAAGCATGTCTTCAGAACTCGGGGGTCTGTAGCTGCCTGTTTGACCAGCAAGACTGGAACTTGGCAATAACTCAGCCCTTAGGAGACGCCGCACCTTGTTCTGTGTGAAGCCGTTCCCTTGGCAGAAGGCGCCTTCCTCTGGGTTGCTTTCCCCCCAGAAGCCAATGCAGTTCTGAAGGCCATGTTTTGGTATCTTATTAGGTGTTGTTTTCATCTGTTACAGCGTCAACAGTTGCATTTGTTTTTTTATCCCTTCACAGGTTCCCTCCCACTTACTACGCTCCAAGATTACCAAGCCCAACGTGTACCATGAGTCCAAGCTGGCGGCAAAGGAGTACCAGGCCGCCAAGGCGCGTCTGTTCACAGCCTTCATCAAGGCGGGGCTGGGGGCCTGGGTGGAGAAGCCCACCGAGCAGGACCAGTTCTCACTCACGCCCTGACCCGGGCAGACATGATGGGGGGTGCAGGGGGCTGTGGGCATCCAGCGTCATCCTCCAGAACCTCACATCTGAACTGGGGGCAGGTGCATACCTTGGGGAGGGAGTAGGGGGACACGGGGGACCACCAGGTGTCCACGGTTGTCCCCAGCATCTCACATCAGACCTGGGGCAGGTGCGCAGTGTGGGGAGGGGATGGGGTGCGTCAGGGCCCAGCATCGCCGCCTGGCATCTCTCTGCCGCAGCATTTCCCCTTCTGAACCGTCCAGTGACTGCTTTCAATCTCGGTTTACGTTTAGAAATTGAGTTCTACTGAGTAGGGCTTCCTTAAGTTTAGGAAAATAGAAATTACTTTGTGTGAAATTCTTGAATAAATAATTTATTCAGAGCTAGGAATGTGGTTTATAAAATAGGAAGTAATTGTGTCAGGTCACTTTTATGCCACATTATTTTAATTGCAAAAAAGCATCTATATATGGAGGAGGGTGGGAAAATAGAGGTAGGAAATAGTAGCCTAAAGGAAATCGCCACACGTCTGTCTAAACTTAGGTCTCTTTTCTCCGTAGGTACCTCCCTGGGTAGTTCCACACACTAGGTTGTAACAGTCTCTCCCTGAGGAGCAGACTCCCAGCATGGTGTAGCGTGGCCCTGTCATGCACATGGGGTCCCGCAGCAGTGACTGTGTGTCCTGCAGAGGCGTGACCCAGGCCCCTGTAGCCCTCAGCCTCCTCTAGAAGCTTCTGTACTCCTTGTAGGATCAGATCATGGAAAACTTTTCTCAGTTTACTTCTAAGTAATCACAGATAATACATGGCCAGTAATCCCAGGCTGGCCATTCATTCAGGTTTTTTAAAGGATATTTAACTTTTATGGACTAGAAGGAATCACGAGGGCTACTGCACAATACATGGCCTAAGTTCCCTCTGTTCCTTCCTCTGAATCGAATGGATGTGGGTGACCGCCCGAAGGCCTTCACAGGATGGAAGTAGAATGATTTCAGTAGATACTCATTCTTGGAAAATGCCATAGTTTTAAATTATTGTTTCCAGCTTTATCAAAGACATGTTTGAAAAATAAAAAGCATCCAAGTGAGAGCTGGTGAGACCACGTGCTGCTGGCGTAGTGTAGGCCAGACATTGACAGTCCTGACGGGAGCTCAGGGCTGCCCAGCGCCCAGCGTGCACGGGACGGCCCCACGACAGAGGGAGTCAGCCCGGGAGGTCAGGAGCGCGGCGGGCGAGGGCCCTGTGTGGACCACCTCCACCAAGCTCAGAGATTTGCACCAGGTGCCTTGTTGCCTCCGCTCAGGATGAAAGAGGAGCTGAGAGAAGTGCTCTGCCTGCCAGTGCAGTGCCCAGCTCCAAGGCTCTAGAGGGTGTTCAGGTGGGTCTCCTGGGGCCATGGGGAGAGATTGGTGCAGACCTTACCCCACAGCATACACCTGCCACAGCGAAATCCAGGGTGTTGGCACCTGTGTGTCCGTGATGAGCCTAGGAAACCAGAGCAGGGGCAGAGGGGCGTCATCCTCCCACCGGACGCTGGGAGCTCAGACCCCAAAACTGAAACACCGTGGCTTCGGCGGGGGGTGTGCCTCCTGATGTCAGGAGCCCCATCCACGTGTGTCCACACAGATCTCGTCGCAGCACGGCAGGAAGGGGTGCTGCTTAGGGCTCATTGTTGGGGACATGACCGGGTTCAGCGGCTAGAACATCTGCCCCACAGCAGCCTCCTCCTCCACCGAAGAGGGTAGTTGTCTCCCTGAAGCAGTCACAGCAGGCGTCTCTGCCGCTCCGTCACCACAGTGGGGTTTTGTTCAGGCAGATCGCGCTGGGGTTCTGCACCTGCAGAAGGAGAGGGGTCTGTTGTCGCTGGCTTTCCCCCAAGCAGGCTCTTGCACACTCTAGAAAAAACACCTTGTAAGTCTGTGCATTTTTATTGTCTTGATAAATTGTATTTTTTTCTAATGGGGATTGGGAGATGGACTTCGTT
AGCAGAAGTCATGTAGCTCTGATAGGAGCGCTTTTCAAACAGATGTCTTAATCTTCTTAGTGCCTCAAACTAGATCCTATTCAGACATGTTTCAGCAAGTTAGTACAAGTTTATTTTGGTGCCAAAAAATTTTGAAATCCATGAGGTTTTTTCATAATAAGCATTTTCCATGAACTTTTTCAAGACTCTTGTTAAGAATTAGGGTTTCCTATTGCATCATGGATGTCACACATGCAAAGCCACGTGACCTGAACATGCCTGGCCTCTCAGTGGCAGGGGAGCACATGCAGGCATGAGCGCCAGAGGTGGTGTGATACAGGAGCAACCCCCACCTGCACGACCTCATGGGACCCTGCATTAGTCTCAGAAGTGGCTCCCACCCATCCACTCTCAGGCTGCCAAGGTTCCTGGCTCCGTCAGTGCCAGAGTGAGAAAAGACACACTTGTCAGGAAGTCTCATGATTTCAGGTTTCTGTCAATCTTCTGCCCACCTGCCCTGTCAGACAAGTGCATACCCGTGGGTCAGTTCTGCTTTCTCAGCACTGCTCCTATTCTGGTGGCCGTGGAAGAGTGTGAGGCCACTGCCACGGCAGATGCACGCTCAAGTCTGCGTATATTCCTCGGCAGGCAGAATTCCCCCACCACGCACTTCTGTGGCCATGTCTGAGCACAGTGTGCCGCCCGTGGCTGCTCCCTCCCTGGGGGTGAAAGCGGGCTTCACACCACCTTCCTGTGTCTTCCGTTTCAGGCATCAGCAATGCAGAAGCACGGCAGCCAGGGAAGGCCCCCAACTTCAGTGTCAACTGGACGGTAGGCGACTCCGCTATTGAGGTCATCAACGCCACGACTGGGAAGGATGAGCTGGGCCGCGCGTCCCGCCTGTGTAAGCACGCGTTGTACTGTCGCTGGATGCGTGTGCACGGCAAGGTACTGAGGCGCCCTCACCGCAATGCGCCGGCTCCACCTCCCCAATAGCTTGTCTGTCCTCACACCTACTGTTCCTTAAGTTGTTTCATCATGTCATCATGCACAGCTTCCGAAAACGATCACTTGGAATGATTCTTCCTTCAGATTGTTTTAGCTTAGAAGTGTGGCTACGTCCCTGAAACCTTAATGCCATCTCAAAGGCAGCTCTTTTCCTCCCTGCTGCAGGGTAACACCCACTGCCAGGCCACTGTGTGTGGTGGAAACGTCTCTTACTCTCAGATATTGAAAGTCATTATGCAAAACGCAGGGCCAGTCACCCTGCTGTCCCCTCCTTCTCAGCAACATAAAAATTGCTTGGATTGTGATAACCCTCCAGTGGAGTTTTTAAACCTTTTGAATTAGCTGTGGGGCCCTTTTTTCCCCAGAATAAAACTTTATATAGTAAGTCAGGGTATTACTAGTTTGTGTGTATTCTTCAGTCAAGTAGATGGCATCTGTTTATTCTGAGACCAGCATTGTGCACTGGCATGGGAGGTATAGCCAGAAGGGACAGTGCCCGGGAGGGTCCTGTTCACCAGGGGCAGCACCCAGGCCAGCTGCCACAAGTCCAAGGTCCACACAGAAGGAGTTACTGGCCGCATGAGGGAAGGCCTCCGAGGTCATCAGGGTGATGACACACATAACATCCGTGGTGCTTCTTAGAGTTAAAAATGAAACGTGAATCCACTATTGGTGGTTTCCCAGAAGCATGTCTTCAGAACTCGGGGGTCTGTAGCTGCCTGTTTGACCAGCAAGACTGGAACTTGGCAATAACTCAGCCCTTAGGAGACGCCGCACCTTGTTCTGTGTGAAGCCGTTCCCTTGGCAGAAGGCGCCTTCCTCTGGGTTGCTTTCCCCCCAGAAGCCAATGCAGTTCTGAAGGCCATGTTTTGGTATCTTATTAGGTGTTGTTTTCATCTGTTACAGCGTCAACAGTTGCATTTGTTTTTTTATCCCTTCACAGGTTCCCTCCCACTTACTACGCTCCAAGATTACCAAGCCCAACGTGTACCATGAGTCCAAGCTGGCGGCAAAGGAGTACCAGGCCGCCAAGGCGCGTCTGTTCACAGCCTTCATCAAGGTGGGGCTGGGGGCCTGGGTGGAGAAGCCCACCGAGCAGGACCAGTTCTCACTCACGCCCTGACCCGGGCAGACATGATGGGGGGTGCAGGGGGCTGTGGGCATCCAGCGTCATCCTCCAGAACCTCACATCTGAACTGGGGGCAGGTGCATACCTTGGGGAGGGAGTAGGGGGACACGGGGGACCACCAGGTGTCCACGGTTGTCCCCAGCATCTCACATCAGACCTGGGGCAGGTGCGCAGTGTGGGGAGGGGATGGGGTGCGTCAGGGCCCAGCATCGCCGCCTGGCATCTCTCTGCCGCAGCATTTCCCCTTCTGAACCGTCCAGTGACTGCTTTCAATCTCGGTTTACGTTTAGAAATTGAGTTCTACTGAGTAGGGCTTCCTTAAGTTTAGGAAAATAGAAATTACTTTGTGTGAAATTCTTGAATAAATAATTTATTCAGAGCTAGGAATGTGGTTTATAAAATAGGAAGTAATTGTGTCAGGTCACTTTTATGCCACATTATTTTAATTGCAAAAAAGCATCTATATATGGAGGAGGGTGGGAAAATAGAGGTAGGAAATAGTAGCCTAAAGGAAATCGCCACACGTCTGTCTAAACTTAGGTCTCTTTTCTCCGTAGGTACCTCCCTGGGTAGTTCCACACACTAGGTTGTAACAGTCTCTCCCTGAGGAGCAGACTCCCAGCATGGTGTAGCGTGGCCCTGTCATGCACATGGGGTCCCGCAGCAGTGACTGTGTGTCCTGCAGAGGCGTGACCCAGGCCCCTGTAGCCCTCAGCCTCCTCTAGAAGCTTCTGTACTCCTTGTAGGATCAGATCATGGAAAACTTTTCTCAGTTTACTTCTAAGTAATCACAGATAATACATGGCCAGTAATCCCAGGCTGGCCATTCATTCAGGTTTTTTAAAGGATATTTAACTTTTATGGACTAGAAGGAATCACGAGGGCTACTGCACAATACATGGCCTAAGTTCCCTCTGTTCCTTCCTCTGAATCGAATGGATGTGGGTGACCGCCCGAAGGCCTTCACAGGATGGAAGTAGAATGATTTCAGTAGATACTCATTCTTGGAAAATGCCATAGTTTTAAATTATTGTTTCCAGCTTTATCAAAGACATGTTTGAAAAATAAAAAGCATCCAAGTGAGAGCTGGTGAGACCACGTGCTGCTGGCGTAGTGTAGGCCAGACATTGACAGTCCTGACGGGAGCTCAGGGCTGCCCAGCGCCCAGCGTGCACGGGACGGCCCCACGACAGAGGGAGTCAGCCCGGGAGGTCAGGAGCGCGGCGGGCGAGGGCCCTGTGTGGACCACCTCCACCAAGCTCAGAGATTTGCACCAGGTGCCTTGTTGCCTCCGCTCAGGATGAAAGAGGAGCTGAGAGAAGTGCTCTGCCTGCCAGTGCAGTGCCCAGCTCCAAGGCTCTAGAGGGTGTTCAGGTGGGTCTCCTGGGGCCATGGGGAGAGATTGGTGCAGACCTTACCCCACAGCATACACCTGCCACAGCGAAATCCAGGGTGTTGGCACCTGTGTGTCCGTGATGAGCCTAGGAAACCAGAGCAGGGGCAGAGGGGCGTCATCCTCCCACCGGACGCTGGGAGCTCAGACCCCAAAACTGAAACACCGTGGCTTCGGCGGGGGGTGTGCCTCCTGATGTCAGGAGCCCCATCCACGTGTGTCCACACAGATCTCGTCGCAGCACGGCAGGAAGGGGTGCTGCTTAGGGCTCATTGTTGGGGACATGACCGGGTTCAGCGGCTAGAACATCTGCCCCACAGCAGCCTCCTCCTCCACCGAAGAGGGTAGTTGTCTCCCTGAAGCAGTCACAGCAGGCGTCTCTGCCGCTCCGTCACCACAGTGGGGTTTTGTTCAGGCAGATCGCGCTGGGGTTCTGCACCTGCAGAAGGAGAGGGGTCTGTTGTCGCTGGCTTTCCCCCAAGCAGGCTCTTGCACACTCTAGAAAAAACACCTTGTAAGTCTGTGCATTTTTATTGTCTTGATAAATTGTATTTTTTTCTAATGGGGATTGGGAGATGGACTTCGTT
Task1_train_28478
Given this context: Chromosome 21, gene COL6A1 (collagen type VI alpha 1 chain) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Bethlem myopathy 1A
TCTCACTTGTCCGGTCCCGTGCCGGGGACGCCCTGCCCTTCGGGGGAGGTTGTGAAGGTTTCTGACTCCCCTCGAGGCACAGGAGCGGTTTGGGGTCTCTCACTCCACCCCCTCCCCACCGTCCCCACCGAGGGACGTCCTGCTGCCTTTTCCCGGGAGAGCCTCTCCGGGCCCGGGGCTCTGTGCTGCAGGCGCTGGGCTGGCCGGGAGGGCAGGCCCAGCAGAGACTCGGGGAATGGGGCGAGAGCTTGAAGGCCCCTCTCCTCCATCTTCGGCCAGACTGCCCCGTGGACCTGTTCTTTGTGCTGGACACCTCTGAGAGCGTGGCCCTGAGGCTGAAGCCCTACGGGGCCCTCGTGGACAAAGTCAAGTCCTTCACCAAGCGCTTCATCGACAACCTGAGGGACAGGTAGGAGGGACGCCCCGTGACCTTCCTCCTGTGCTTCTGGGCCTCTTGGAGGGAGGGGTGGGGGCCCAGGGGAACACGGGTGCGACGGCCTCAACCTCCTAAGGTTGGGCGAGCGTTGCCCTGACCGGGGCCCCTCCCGGCGCCCTCCAGAGTGAGGCCGGGGCCCTTTCCGGCGCCCTCCAGAGTGAGCTGGTCTGAGCCTCTCCCAGCGCCTTCCAGAGTGAGCTGGTTTGAGACCCTGCTCGCGGGGGTGGCACCTGTTCAGCAGGGCCGAGGTGACAGTGAGGCTGAGATGTAGGGAAGAGAGGCTCCCGCAGGCTGACCGAGAGGGCTCAGCGCACTGGCCCAGACACGCAGTCCTGCCTGGTGCGCGGGAGCCCCTCACTAACCACCTGGACCCTGGTTTGTTCCGTGGGCAGTGAGAGCCTCTACCTGGGTCCTGGATCCCACGTTCTGAAGGTCCCCGACTCGGGAGCCAGGAGGGGTGTCGCTCTGCAGCCCCAGGGCCCCCAGGCTTGGTTCTGGGCTTGGGACACGGCACCCTCTGCTCCACGTTCCTCCATCTGTGCGTGTGGCTGAGGACAGACCGGGGGGAGAGGGGAGTCGGTCCTGTGGGTGCACAGGGCCGCTGAGGGGGGGGCATGTAGAACGGGGCTCCCCCACTGAGACGGGTCCTGGCAGTGGGGACACAGCTTAGCCGGCGTAGGAACCCCCGTCCTCCTTGACCCTGCTGACTGGCCGCTGGGCCGGAGCCTCCCGCCACCAGAAGGGGCACAGTCAGAGGCTGCCGGTAACAGCAGGGTGGACCTTCCAGCCCACACCGTGCCCAGCAGGAGCCATTGGTACCAGGAACCCTGAGCTTAGTGGACATGGCCAGGCCCGTGCGGCAGTGTTTGGGGGGGGGTCTGGCTGTGGATGGCACCGGGGAGGGGCGGCCGCGTGGCCCAGCGTCCCCCGAGTCGCCCTTGTTGCCTTTACTCAGTCTCCCCATGACTCAGTTTCCCACCTGTGAAATGGGGCGGAGTCATCCCCATGTCGCTGCCACTGGATTCCTGCAGGCGCCGTGGTCACTCTGCTGAATGGATGGGAGGGTGGGTGGGGCAGAGGTGGGCCCACCCCAGGCTGGGGCAGAGCAGACCCCTGAGAGCCTCAGGCTCAGGTGCTCAGAGGGCAGCGAGGGGGCTGCTCAGATCCCCGGGGTGCCTCCTTCCCCCACTGTCATGCTGCCCCACTGCAGGCCCAAGGACCCCACCCCAGCAGGGCCACACACTCAGGGCTCCTGGTCTGAGGGCCTGAGGGATCGGGGCGCAGGTCGCTTGCTGGCCACACCCGCCTGCACAGCCTTCCAGGAGGGCCGGCCTCAGGGCCACAGGGCAAGTCCAGCTGTGTGTCAGCCACGGCCAGGGTGGGGCAGCCTGTCCATCTGGGTGACGTCGCGCCCTGGGACGGGTAGCGATGGCGCCAGGGGCCGCCCGCCTCACGCCCGCCGTGCCTGTTCCTGGCAGGTACTACCGCTGTGACCGAAACCTGGTGTGGAACGCAGGCGCGCTGCACTACAGTGACGAGGTGGAGATCATCCAAGGCCTCACGCGCATGCCTGGCGGCCGCGACGCACTCAAAAGCAGCGTGGACGCGGTCAAGTACTTTGGGAAGGGCACCTACACCGACTGCGCTATCAAGAAGGGGCTGGAGCAGCTCCTCGTGGGGTGAGTGGCCCCCAGCCTCCTGCCCACGCCAGTTCTCACGCGTGGTACCCAGCCTGGGCTGGGGTTGGCCTGGGGTCCCTGTGCGGCTTCAGCTGCAGCCTCCCTGTTCTCTTGGAGGCTGCACGGCCTCCCTGACCCACTTTGTGGGCAGGAAAGAGACGGAGACAGACAGAGACAGAGAGAAACAGAAACAGGGAGAAACAGACACAGAGAGAGACAGAGACAGAGAGAGATAGAGACAGAGACAGAGAGAGACAGAGACAAAGAGTGACAGAGGGACCAAGACAGGCAGACAGAGACAAACAGAGACAGAGACAGAGACACAGAGAGAGACACAGAGAGACAGAGACGGGAACAGAGACAGGCAGACAGAGACAGAGAGAGACAGAGACAGAAACAGAGACAGAGGGACAGAGACAGGCAGAGAGAGACAGAGAGACAGAGACAGAGACAGACAAACAGAGACAGAGAGACAGAAACAGGGACAGAGACAGAAAGAGAGAGAGACAGAGGGAAACAGAGAGAGACAGAGACAGATAGAAAAAGACAGAGGCAGAGAGAAGCAGAGACAGAGAAACAAAGACAGTCAGAGACAGACAGAGACAGAGACAGAAACAGAGACAGAGAGACAGAGACAGAGGGGCAGAGACAGGCAGACAGAGAGACAGAGACAGAGACAGCGAAACAGAGACAGAAACATACAGAGACAGAGAGACAGAGAGAAGCAGAGACAGACAGAGGCAGAGAGACAGAGAGAAGCAGAGACAGGGACAGAGACAGAGACAGAAATAGAGAGATAGAGACAGAGGGACAGAGACAGAGAGATAGAGACAGAGAGGGAGACAGAGAGATAGAAGCAGAGAGAGAGAGACAAAGACAGAGGCAGAGAGACAGAGAGAGAAGCACAGACAGAGACAGACAGAGAGACAGGGACAGACAGAGACAGAGAGACCGGAAACAGAGGCAGAGAGACTGAGAGACTGAGAGAGACGGGGTGGTTTTCCCCACAGCATCAACACCAAGCAGGGCTAGGATCACTGAAACAGACTCATCAGACCCGAAGCATGCGCTTTCTCGGGGTTTTTCTGGACTGAGGGGTTTCCTCTCATCCCAGTGTCCAGCTGTGGGGACGCAGGGGCCGCAAGCCCCGGAGTGTCCAGAGGGGAACGTGGCCTCCCCACACCCAGCCCTTCACGAGGCCTCAGGATCCCAGTGGGGGTACCCGAGGCTGCCCTGTCCAGCCAGGCGGTGCGGGGGGTTTGGGGAGAGCCTCTCCCCGAGGTCGGTCTCAGAGGGCCACATGGCCGGTGTGGGCCGGACATTCCCTTTCCAATGGTTGTGCCCACTTCCCTCCAGAGTTGGTGCCAAGCTGGGACCTGGGGGACTTGGAGTCTCAGGAAGTCGTCCGCTGTCTGCAGGGGGTGCATGGGGGATGTGGCCACACACGTCAGAGTGCGGCCCCCTGTGGAAGCCACAGACAGACACGACTCCCCTAAATGAGCTCGCCCTTCTGGCCGAGATGCTCAGCGTCCCCAGCAGGCTGCCCGACTGCCCTGCGATACTGCCCTCCTTCCTGCTGCTCCCACTTTCCCTTTCGGGGGGTTGGATTTGGGGCATTCAGGGATCGCCCTGTTGTTTGCTCATCACACCCATTTCCTGCAAGAGCCACGGTGACCGAGCAGCCTTGAGTTGAGGCAGCTTGTGGGTAGACGCGGCGGGCATCTCGGAGGGGCACGCTCCCTGCCACCCTCAGCCTCCACTCACTGGTCAGGGGCTTTGCGCCCCAGGGCACCCCAGGAACCGAGCCTCCTTTGGGGTCATGGGTGCCTCTCCTGGGAGGGCGTGGATTTTCCAAAGCAGTTTAGAGAAATGAGACCCACAGGCGTTATTTCCCATGGTGAGGTTCTTTTCAGTAACCCCCACCGTATAGCCAGGATCAGCAAAGAGAGGCGGCTCCTCCCGGTGAGACAGGGACCAGCAC
TCTCACTTGTCCGGTCCCGTGCCGGGGACGCCCTGCCCTTCGGGGGAGGTTGTGAAGGTTTCTGACTCCCCTCGAGGCACAGGAGCGGTTTGGGGTCTCTCACTCCACCCCCTCCCCACCGTCCCCACCGAGGGACGTCCTGCTGCCTTTTCCCGGGAGAGCCTCTCCGGGCCCGGGGCTCTGTGCTGCAGGCGCTGGGCTGGCCGGGAGGGCAGGCCCAGCAGAGACTCGGGGAATGGGGCGAGAGCTTGAAGGCCCCTCTCCTCCATCTTCGGCCAGACTGCCCCGTGGACCTGTTCTTTGTGCTGGACACCTCTGAGAGCGTGGCCCTGAGGCTGAAGCCCTACGGGGCCCTCGTGGACAAAGTCAAGTCCTTCACCAAGCGCTTCATCGACAACCTGAGGGACAGGTAGGAGGGACGCCCCGTGACCTTCCTCCTGTGCTTCTGGGCCTCTTGGAGGGAGGGGTGGGGGCCCAGGGGAACACGGGTGCGACGGCCTCAACCTCCTAAGGTTGGGCGAGCGTTGCCCTGACCGGGGCCCCTCCCGGCGCCCTCCAGAGTGAGGCCGGGGCCCTTTCCGGCGCCCTCCAGAGTGAGCTGGTCTGAGCCTCTCCCAGCGCCTTCCAGAGTGAGCTGGTTTGAGACCCTGCTCGCGGGGGTGGCACCTGTTCAGCAGGGCCGAGGTGACAGTGAGGCTGAGATGTAGGGAAGAGAGGCTCCCGCAGGCTGACCGAGAGGGCTCAGCGCACTGGCCCAGACACGCAGTCCTGCCTGGTGCGCGGGAGCCCCTCACTAACCACCTGGACCCTGGTTTGTTCCGTGGGCAGTGAGAGCCTCTACCTGGGTCCTGGATCCCACGTTCTGAAGGTCCCCGACTCGGGAGCCAGGAGGGGTGTCGCTCTGCAGCCCCAGGGCCCCCAGGCTTGGTTCTGGGCTTGGGACACGGCACCCTCTGCTCCACGTTCCTCCATCTGTGCGTGTGGCTGAGGACAGACCGGGGGGAGAGGGGAGTCGGTCCTGTGGGTGCACAGGGCCGCTGAGGGGGGGGCATGTAGAACGGGGCTCCCCCACTGAGACGGGTCCTGGCAGTGGGGACACAGCTTAGCCGGCGTAGGAACCCCCGTCCTCCTTGACCCTGCTGACTGGCCGCTGGGCCGGAGCCTCCCGCCACCAGAAGGGGCACAGTCAGAGGCTGCCGGTAACAGCAGGGTGGACCTTCCAGCCCACACCGTGCCCAGCAGGAGCCATTGGTACCAGGAACCCTGAGCTTAGTGGACATGGCCAGGCCCGTGCGGCAGTGTTTGGGGGGGGGTCTGGCTGTGGATGGCACCGGGGAGGGGCGGCCGCGTGGCCCAGCGTCCCCCGAGTCGCCCTTGTTGCCTTTACTCAGTCTCCCCATGACTCAGTTTCCCACCTGTGAAATGGGGCGGAGTCATCCCCATGTCGCTGCCACTGGATTCCTGCAGGCGCCGTGGTCACTCTGCTGAATGGATGGGAGGGTGGGTGGGGCAGAGGTGGGCCCACCCCAGGCTGGGGCAGAGCAGACCCCTGAGAGCCTCAGGCTCAGGTGCTCAGAGGGCAGCGAGGGGGCTGCTCAGATCCCCGGGGTGCCTCCTTCCCCCACTGTCATGCTGCCCCACTGCAGGCCCAAGGACCCCACCCCAGCAGGGCCACACACTCAGGGCTCCTGGTCTGAGGGCCTGAGGGATCGGGGCGCAGGTCGCTTGCTGGCCACACCCGCCTGCACAGCCTTCCAGGAGGGCCGGCCTCAGGGCCACAGGGCAAGTCCAGCTGTGTGTCAGCCACGGCCAGGGTGGGGCAGCCTGTCCATCTGGGTGACGTCGCGCCCTGGGACGGGTAGCGATGGCGCCAGGGGCCGCCCGCCTCACGCCCGCCGTGCCTGTTCCTGGCAGGTACTACCGCTGTGACCGAAACCTGGTGTGGAACGCAGGCGCGCTGCACTACAGTGACGAGGTGGAGATCATCCAAGGCCTCACGCGCATGCCTGGCGGCCGCGACGCACTCAAAAGCAGCGTGGACGCGGTCAGGTACTTTGGGAAGGGCACCTACACCGACTGCGCTATCAAGAAGGGGCTGGAGCAGCTCCTCGTGGGGTGAGTGGCCCCCAGCCTCCTGCCCACGCCAGTTCTCACGCGTGGTACCCAGCCTGGGCTGGGGTTGGCCTGGGGTCCCTGTGCGGCTTCAGCTGCAGCCTCCCTGTTCTCTTGGAGGCTGCACGGCCTCCCTGACCCACTTTGTGGGCAGGAAAGAGACGGAGACAGACAGAGACAGAGAGAAACAGAAACAGGGAGAAACAGACACAGAGAGAGACAGAGACAGAGAGAGATAGAGACAGAGACAGAGAGAGACAGAGACAAAGAGTGACAGAGGGACCAAGACAGGCAGACAGAGACAAACAGAGACAGAGACAGAGACACAGAGAGAGACACAGAGAGACAGAGACGGGAACAGAGACAGGCAGACAGAGACAGAGAGAGACAGAGACAGAAACAGAGACAGAGGGACAGAGACAGGCAGAGAGAGACAGAGAGACAGAGACAGAGACAGACAAACAGAGACAGAGAGACAGAAACAGGGACAGAGACAGAAAGAGAGAGAGACAGAGGGAAACAGAGAGAGACAGAGACAGATAGAAAAAGACAGAGGCAGAGAGAAGCAGAGACAGAGAAACAAAGACAGTCAGAGACAGACAGAGACAGAGACAGAAACAGAGACAGAGAGACAGAGACAGAGGGGCAGAGACAGGCAGACAGAGAGACAGAGACAGAGACAGCGAAACAGAGACAGAAACATACAGAGACAGAGAGACAGAGAGAAGCAGAGACAGACAGAGGCAGAGAGACAGAGAGAAGCAGAGACAGGGACAGAGACAGAGACAGAAATAGAGAGATAGAGACAGAGGGACAGAGACAGAGAGATAGAGACAGAGAGGGAGACAGAGAGATAGAAGCAGAGAGAGAGAGACAAAGACAGAGGCAGAGAGACAGAGAGAGAAGCACAGACAGAGACAGACAGAGAGACAGGGACAGACAGAGACAGAGAGACCGGAAACAGAGGCAGAGAGACTGAGAGACTGAGAGAGACGGGGTGGTTTTCCCCACAGCATCAACACCAAGCAGGGCTAGGATCACTGAAACAGACTCATCAGACCCGAAGCATGCGCTTTCTCGGGGTTTTTCTGGACTGAGGGGTTTCCTCTCATCCCAGTGTCCAGCTGTGGGGACGCAGGGGCCGCAAGCCCCGGAGTGTCCAGAGGGGAACGTGGCCTCCCCACACCCAGCCCTTCACGAGGCCTCAGGATCCCAGTGGGGGTACCCGAGGCTGCCCTGTCCAGCCAGGCGGTGCGGGGGGTTTGGGGAGAGCCTCTCCCCGAGGTCGGTCTCAGAGGGCCACATGGCCGGTGTGGGCCGGACATTCCCTTTCCAATGGTTGTGCCCACTTCCCTCCAGAGTTGGTGCCAAGCTGGGACCTGGGGGACTTGGAGTCTCAGGAAGTCGTCCGCTGTCTGCAGGGGGTGCATGGGGGATGTGGCCACACACGTCAGAGTGCGGCCCCCTGTGGAAGCCACAGACAGACACGACTCCCCTAAATGAGCTCGCCCTTCTGGCCGAGATGCTCAGCGTCCCCAGCAGGCTGCCCGACTGCCCTGCGATACTGCCCTCCTTCCTGCTGCTCCCACTTTCCCTTTCGGGGGGTTGGATTTGGGGCATTCAGGGATCGCCCTGTTGTTTGCTCATCACACCCATTTCCTGCAAGAGCCACGGTGACCGAGCAGCCTTGAGTTGAGGCAGCTTGTGGGTAGACGCGGCGGGCATCTCGGAGGGGCACGCTCCCTGCCACCCTCAGCCTCCACTCACTGGTCAGGGGCTTTGCGCCCCAGGGCACCCCAGGAACCGAGCCTCCTTTGGGGTCATGGGTGCCTCTCCTGGGAGGGCGTGGATTTTCCAAAGCAGTTTAGAGAAATGAGACCCACAGGCGTTATTTCCCATGGTGAGGTTCTTTTCAGTAACCCCCACCGTATAGCCAGGATCAGCAAAGAGAGGCGGCTCCTCCCGGTGAGACAGGGACCAGCAC
Task1_train_28479
This gene mutation involves COL6A1 (collagen type VI alpha 1 chain) on Chromosome 21. Is it associated with any clinical condition, or is it benign?
Pathogenic; Bethlem myopathy 1A
ATCAGCCAGACCATCGACACCATCGTGGACATGATCGTGAGGCCCCTGCCCAGGAGACGGGGAGGCCCGCGGCGGCCGCAGGTGGAAAGTAATTCTGCGTTTCCATTTCTCTTTCCAGAAAAATAACGTGGAGCAAGTGGTAAGAGCCCTCCCCACCACCCCCAGCCGTGAGTCTGCACACGTCCACCCACACGTCCACCTGTGTGTTCAGGACGCATGTCCCTATGCATATCCGCCCATGTGCCCGGGACACATGTCCCCTGCGTGTCTGCCCGTGTGCCCGGGATGTGTGTCCCCCTGCGTGTCCACCTGTGTGTCTGCCCATGTGCCTGGGACATGTGTCCGCCTGTGCGTCCATCCGTGTGTCCGTCTGCCCATGTGCCTGGGTCGCATGTCACCCTGTGTCCCAGCCGTATGTCCGTGGCTTTCCCACTGACTCGTCTCCATGCTTTCCCCCCACAGTGCTGCTCCTTCGAATGCCAGGTGAGTGTGCCCCCCGACCCCTGACCCCGCGCCCTGCACCCTGGGAACCTGAGTCTGGGGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCG
ATCAGCCAGACCATCGACACCATCGTGGACATGATCGTGAGGCCCCTGCCCAGGAGACGGGGAGGCCCGCGGCGGCCGCAGGTGGAAAGTAATTCTGCGTTTCCATTTCTCTTTCCAGAAAAATAACGTGGAGCAAGTGGTAAGAGCCCTCCCCACCACCCCCAGCCGTGAGTCTGCACACGTCCACCCACACGTCCACCTGTGTGTTCAGGACGCATGTCCCTATGCATATCCGCCCATGTGCCCGGGACACATGTCCCCTGCGTGTCTGCCCGTGTGCCCGGGATGTGTGTCCCCCTGCGTGTCCACCTGTGTGTCTGCCCATGTGCCTGGGACATGTGTCCGCCTGTGCGTCCATCCGTGTGTCCGTCTGCCCATGTGCCTGGGTCGCATGTCACCCTGTGTCCCAGCCGTATGTCCGTGGCTTTCCCACTGACTCGTCTCCATGCTTTCCCCCCACAGTGCTGCTCCTTCGAATGCCAGGTGAGTGTGCCCCCCGACCCCTGACCCCGCGCCCTGCACCCTGGGAACCTGAGTCTGGGGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGAAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCG
Task1_train_28480
A variant was discovered in gene COL6A1 (collagen type VI alpha 1 chain), Chromosome 21. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Bethlem myopathy 1A
GACCATCGACACCATCGTGGACATGATCGTGAGGCCCCTGCCCAGGAGACGGGGAGGCCCGCGGCGGCCGCAGGTGGAAAGTAATTCTGCGTTTCCATTTCTCTTTCCAGAAAAATAACGTGGAGCAAGTGGTAAGAGCCCTCCCCACCACCCCCAGCCGTGAGTCTGCACACGTCCACCCACACGTCCACCTGTGTGTTCAGGACGCATGTCCCTATGCATATCCGCCCATGTGCCCGGGACACATGTCCCCTGCGTGTCTGCCCGTGTGCCCGGGATGTGTGTCCCCCTGCGTGTCCACCTGTGTGTCTGCCCATGTGCCTGGGACATGTGTCCGCCTGTGCGTCCATCCGTGTGTCCGTCTGCCCATGTGCCTGGGTCGCATGTCACCCTGTGTCCCAGCCGTATGTCCGTGGCTTTCCCACTGACTCGTCTCCATGCTTTCCCCCCACAGTGCTGCTCCTTCGAATGCCAGGTGAGTGTGCCCCCCGACCCCTGACCCCGCGCCCTGCACCCTGGGAACCTGAGTCTGGGGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTC
GACCATCGACACCATCGTGGACATGATCGTGAGGCCCCTGCCCAGGAGACGGGGAGGCCCGCGGCGGCCGCAGGTGGAAAGTAATTCTGCGTTTCCATTTCTCTTTCCAGAAAAATAACGTGGAGCAAGTGGTAAGAGCCCTCCCCACCACCCCCAGCCGTGAGTCTGCACACGTCCACCCACACGTCCACCTGTGTGTTCAGGACGCATGTCCCTATGCATATCCGCCCATGTGCCCGGGACACATGTCCCCTGCGTGTCTGCCCGTGTGCCCGGGATGTGTGTCCCCCTGCGTGTCCACCTGTGTGTCTGCCCATGTGCCTGGGACATGTGTCCGCCTGTGCGTCCATCCGTGTGTCCGTCTGCCCATGTGCCTGGGTCGCATGTCACCCTGTGTCCCAGCCGTATGTCCGTGGCTTTCCCACTGACTCGTCTCCATGCTTTCCCCCCACAGTGCTGCTCCTTCGAATGCCAGGTGAGTGTGCCCCCCGACCCCTGACCCCGCGCCCTGCACCCTGGGAACCTGAGTCTGGGGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGACGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTC
Task1_train_28481
This mutation occurs in COL6A1 (collagen type VI alpha 1 chain) on Chromosome 21. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Bethlem myopathy 1A
ACCATCGACACCATCGTGGACATGATCGTGAGGCCCCTGCCCAGGAGACGGGGAGGCCCGCGGCGGCCGCAGGTGGAAAGTAATTCTGCGTTTCCATTTCTCTTTCCAGAAAAATAACGTGGAGCAAGTGGTAAGAGCCCTCCCCACCACCCCCAGCCGTGAGTCTGCACACGTCCACCCACACGTCCACCTGTGTGTTCAGGACGCATGTCCCTATGCATATCCGCCCATGTGCCCGGGACACATGTCCCCTGCGTGTCTGCCCGTGTGCCCGGGATGTGTGTCCCCCTGCGTGTCCACCTGTGTGTCTGCCCATGTGCCTGGGACATGTGTCCGCCTGTGCGTCCATCCGTGTGTCCGTCTGCCCATGTGCCTGGGTCGCATGTCACCCTGTGTCCCAGCCGTATGTCCGTGGCTTTCCCACTGACTCGTCTCCATGCTTTCCCCCCACAGTGCTGCTCCTTCGAATGCCAGGTGAGTGTGCCCCCCGACCCCTGACCCCGCGCCCTGCACCCTGGGAACCTGAGTCTGGGGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCG
ACCATCGACACCATCGTGGACATGATCGTGAGGCCCCTGCCCAGGAGACGGGGAGGCCCGCGGCGGCCGCAGGTGGAAAGTAATTCTGCGTTTCCATTTCTCTTTCCAGAAAAATAACGTGGAGCAAGTGGTAAGAGCCCTCCCCACCACCCCCAGCCGTGAGTCTGCACACGTCCACCCACACGTCCACCTGTGTGTTCAGGACGCATGTCCCTATGCATATCCGCCCATGTGCCCGGGACACATGTCCCCTGCGTGTCTGCCCGTGTGCCCGGGATGTGTGTCCCCCTGCGTGTCCACCTGTGTGTCTGCCCATGTGCCTGGGACATGTGTCCGCCTGTGCGTCCATCCGTGTGTCCGTCTGCCCATGTGCCTGGGTCGCATGTCACCCTGTGTCCCAGCCGTATGTCCGTGGCTTTCCCACTGACTCGTCTCCATGCTTTCCCCCCACAGTGCTGCTCCTTCGAATGCCAGGTGAGTGTGCCCCCCGACCCCTGACCCCGCGCCCTGCACCCTGGGAACCTGAGTCTGGGGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGACAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCG
Task1_train_28482
A sequence alteration has been identified in COL6A1 (collagen type VI alpha 1 chain) on Chromosome 21. Is it disease-inducing or harmless?
Pathogenic; Bethlem myopathy 1A
CACCATCGTGGACATGATCGTGAGGCCCCTGCCCAGGAGACGGGGAGGCCCGCGGCGGCCGCAGGTGGAAAGTAATTCTGCGTTTCCATTTCTCTTTCCAGAAAAATAACGTGGAGCAAGTGGTAAGAGCCCTCCCCACCACCCCCAGCCGTGAGTCTGCACACGTCCACCCACACGTCCACCTGTGTGTTCAGGACGCATGTCCCTATGCATATCCGCCCATGTGCCCGGGACACATGTCCCCTGCGTGTCTGCCCGTGTGCCCGGGATGTGTGTCCCCCTGCGTGTCCACCTGTGTGTCTGCCCATGTGCCTGGGACATGTGTCCGCCTGTGCGTCCATCCGTGTGTCCGTCTGCCCATGTGCCTGGGTCGCATGTCACCCTGTGTCCCAGCCGTATGTCCGTGGCTTTCCCACTGACTCGTCTCCATGCTTTCCCCCCACAGTGCTGCTCCTTCGAATGCCAGGTGAGTGTGCCCCCCGACCCCTGACCCCGCGCCCTGCACCCTGGGAACCTGAGTCTGGGGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCG
CACCATCGTGGACATGATCGTGAGGCCCCTGCCCAGGAGACGGGGAGGCCCGCGGCGGCCGCAGGTGGAAAGTAATTCTGCGTTTCCATTTCTCTTTCCAGAAAAATAACGTGGAGCAAGTGGTAAGAGCCCTCCCCACCACCCCCAGCCGTGAGTCTGCACACGTCCACCCACACGTCCACCTGTGTGTTCAGGACGCATGTCCCTATGCATATCCGCCCATGTGCCCGGGACACATGTCCCCTGCGTGTCTGCCCGTGTGCCCGGGATGTGTGTCCCCCTGCGTGTCCACCTGTGTGTCTGCCCATGTGCCTGGGACATGTGTCCGCCTGTGCGTCCATCCGTGTGTCCGTCTGCCCATGTGCCTGGGTCGCATGTCACCCTGTGTCCCAGCCGTATGTCCGTGGCTTTCCCACTGACTCGTCTCCATGCTTTCCCCCCACAGTGCTGCTCCTTCGAATGCCAGGTGAGTGTGCCCCCCGACCCCTGACCCCGCGCCCTGCACCCTGGGAACCTGAGTCTGGGGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGAGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCG
Task1_train_28483
Assess the clinical impact of this variant on gene COL6A1 (collagen type VI alpha 1 chain), found on Chromosome 21. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Bethlem myopathy 1A
CACCATCGTGGACATGATCGTGAGGCCCCTGCCCAGGAGACGGGGAGGCCCGCGGCGGCCGCAGGTGGAAAGTAATTCTGCGTTTCCATTTCTCTTTCCAGAAAAATAACGTGGAGCAAGTGGTAAGAGCCCTCCCCACCACCCCCAGCCGTGAGTCTGCACACGTCCACCCACACGTCCACCTGTGTGTTCAGGACGCATGTCCCTATGCATATCCGCCCATGTGCCCGGGACACATGTCCCCTGCGTGTCTGCCCGTGTGCCCGGGATGTGTGTCCCCCTGCGTGTCCACCTGTGTGTCTGCCCATGTGCCTGGGACATGTGTCCGCCTGTGCGTCCATCCGTGTGTCCGTCTGCCCATGTGCCTGGGTCGCATGTCACCCTGTGTCCCAGCCGTATGTCCGTGGCTTTCCCACTGACTCGTCTCCATGCTTTCCCCCCACAGTGCTGCTCCTTCGAATGCCAGGTGAGTGTGCCCCCCGACCCCTGACCCCGCGCCCTGCACCCTGGGAACCTGAGTCTGGGGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCG
CACCATCGTGGACATGATCGTGAGGCCCCTGCCCAGGAGACGGGGAGGCCCGCGGCGGCCGCAGGTGGAAAGTAATTCTGCGTTTCCATTTCTCTTTCCAGAAAAATAACGTGGAGCAAGTGGTAAGAGCCCTCCCCACCACCCCCAGCCGTGAGTCTGCACACGTCCACCCACACGTCCACCTGTGTGTTCAGGACGCATGTCCCTATGCATATCCGCCCATGTGCCCGGGACACATGTCCCCTGCGTGTCTGCCCGTGTGCCCGGGATGTGTGTCCCCCTGCGTGTCCACCTGTGTGTCTGCCCATGTGCCTGGGACATGTGTCCGCCTGTGCGTCCATCCGTGTGTCCGTCTGCCCATGTGCCTGGGTCGCATGTCACCCTGTGTCCCAGCCGTATGTCCGTGGCTTTCCCACTGACTCGTCTCCATGCTTTCCCCCCACAGTGCTGCTCCTTCGAATGCCAGGTGAGTGTGCCCCCCGACCCCTGACCCCGCGCCCTGCACCCTGGGAACCTGAGTCTGGGGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGTGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCG
Task1_train_28484
This variant impacts the gene COL6A1 (collagen type VI alpha 1 chain) on Chromosome 21. Is the change likely to result in a pathogenic outcome?
Pathogenic; Collagen 6-related myopathy
ACCATCGTGGACATGATCGTGAGGCCCCTGCCCAGGAGACGGGGAGGCCCGCGGCGGCCGCAGGTGGAAAGTAATTCTGCGTTTCCATTTCTCTTTCCAGAAAAATAACGTGGAGCAAGTGGTAAGAGCCCTCCCCACCACCCCCAGCCGTGAGTCTGCACACGTCCACCCACACGTCCACCTGTGTGTTCAGGACGCATGTCCCTATGCATATCCGCCCATGTGCCCGGGACACATGTCCCCTGCGTGTCTGCCCGTGTGCCCGGGATGTGTGTCCCCCTGCGTGTCCACCTGTGTGTCTGCCCATGTGCCTGGGACATGTGTCCGCCTGTGCGTCCATCCGTGTGTCCGTCTGCCCATGTGCCTGGGTCGCATGTCACCCTGTGTCCCAGCCGTATGTCCGTGGCTTTCCCACTGACTCGTCTCCATGCTTTCCCCCCACAGTGCTGCTCCTTCGAATGCCAGGTGAGTGTGCCCCCCGACCCCTGACCCCGCGCCCTGCACCCTGGGAACCTGAGTCTGGGGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCGT
ACCATCGTGGACATGATCGTGAGGCCCCTGCCCAGGAGACGGGGAGGCCCGCGGCGGCCGCAGGTGGAAAGTAATTCTGCGTTTCCATTTCTCTTTCCAGAAAAATAACGTGGAGCAAGTGGTAAGAGCCCTCCCCACCACCCCCAGCCGTGAGTCTGCACACGTCCACCCACACGTCCACCTGTGTGTTCAGGACGCATGTCCCTATGCATATCCGCCCATGTGCCCGGGACACATGTCCCCTGCGTGTCTGCCCGTGTGCCCGGGATGTGTGTCCCCCTGCGTGTCCACCTGTGTGTCTGCCCATGTGCCTGGGACATGTGTCCGCCTGTGCGTCCATCCGTGTGTCCGTCTGCCCATGTGCCTGGGTCGCATGTCACCCTGTGTCCCAGCCGTATGTCCGTGGCTTTCCCACTGACTCGTCTCCATGCTTTCCCCCCACAGTGCTGCTCCTTCGAATGCCAGGTGAGTGTGCCCCCCGACCCCTGACCCCGCGCCCTGCACCCTGGGAACCTGAGTCTGGGGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGAGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCGT
Task1_train_28485
Given this variant in gene COL6A1 (collagen type VI alpha 1 chain) on Chromosome 21, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Bethlem myopathy 1A
CGTGAGGCCCCTGCCCAGGAGACGGGGAGGCCCGCGGCGGCCGCAGGTGGAAAGTAATTCTGCGTTTCCATTTCTCTTTCCAGAAAAATAACGTGGAGCAAGTGGTAAGAGCCCTCCCCACCACCCCCAGCCGTGAGTCTGCACACGTCCACCCACACGTCCACCTGTGTGTTCAGGACGCATGTCCCTATGCATATCCGCCCATGTGCCCGGGACACATGTCCCCTGCGTGTCTGCCCGTGTGCCCGGGATGTGTGTCCCCCTGCGTGTCCACCTGTGTGTCTGCCCATGTGCCTGGGACATGTGTCCGCCTGTGCGTCCATCCGTGTGTCCGTCTGCCCATGTGCCTGGGTCGCATGTCACCCTGTGTCCCAGCCGTATGTCCGTGGCTTTCCCACTGACTCGTCTCCATGCTTTCCCCCCACAGTGCTGCTCCTTCGAATGCCAGGTGAGTGTGCCCCCCGACCCCTGACCCCGCGCCCTGCACCCTGGGAACCTGAGTCTGGGGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCGTGCGGCCTCAGAGGGGAG
CGTGAGGCCCCTGCCCAGGAGACGGGGAGGCCCGCGGCGGCCGCAGGTGGAAAGTAATTCTGCGTTTCCATTTCTCTTTCCAGAAAAATAACGTGGAGCAAGTGGTAAGAGCCCTCCCCACCACCCCCAGCCGTGAGTCTGCACACGTCCACCCACACGTCCACCTGTGTGTTCAGGACGCATGTCCCTATGCATATCCGCCCATGTGCCCGGGACACATGTCCCCTGCGTGTCTGCCCGTGTGCCCGGGATGTGTGTCCCCCTGCGTGTCCACCTGTGTGTCTGCCCATGTGCCTGGGACATGTGTCCGCCTGTGCGTCCATCCGTGTGTCCGTCTGCCCATGTGCCTGGGTCGCATGTCACCCTGTGTCCCAGCCGTATGTCCGTGGCTTTCCCACTGACTCGTCTCCATGCTTTCCCCCCACAGTGCTGCTCCTTCGAATGCCAGGTGAGTGTGCCCCCCGACCCCTGACCCCGCGCCCTGCACCCTGGGAACCTGAGTCTGGGGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGAGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCGTGCGGCCTCAGAGGGGAG
Task1_train_28486
An alteration has been detected in COL6A1 (collagen type VI alpha 1 chain) on Chromosome 21. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Bethlem myopathy 1A
GTGAGGCCCCTGCCCAGGAGACGGGGAGGCCCGCGGCGGCCGCAGGTGGAAAGTAATTCTGCGTTTCCATTTCTCTTTCCAGAAAAATAACGTGGAGCAAGTGGTAAGAGCCCTCCCCACCACCCCCAGCCGTGAGTCTGCACACGTCCACCCACACGTCCACCTGTGTGTTCAGGACGCATGTCCCTATGCATATCCGCCCATGTGCCCGGGACACATGTCCCCTGCGTGTCTGCCCGTGTGCCCGGGATGTGTGTCCCCCTGCGTGTCCACCTGTGTGTCTGCCCATGTGCCTGGGACATGTGTCCGCCTGTGCGTCCATCCGTGTGTCCGTCTGCCCATGTGCCTGGGTCGCATGTCACCCTGTGTCCCAGCCGTATGTCCGTGGCTTTCCCACTGACTCGTCTCCATGCTTTCCCCCCACAGTGCTGCTCCTTCGAATGCCAGGTGAGTGTGCCCCCCGACCCCTGACCCCGCGCCCTGCACCCTGGGAACCTGAGTCTGGGGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCGTGCGGCCTCAGAGGGGAGG
GTGAGGCCCCTGCCCAGGAGACGGGGAGGCCCGCGGCGGCCGCAGGTGGAAAGTAATTCTGCGTTTCCATTTCTCTTTCCAGAAAAATAACGTGGAGCAAGTGGTAAGAGCCCTCCCCACCACCCCCAGCCGTGAGTCTGCACACGTCCACCCACACGTCCACCTGTGTGTTCAGGACGCATGTCCCTATGCATATCCGCCCATGTGCCCGGGACACATGTCCCCTGCGTGTCTGCCCGTGTGCCCGGGATGTGTGTCCCCCTGCGTGTCCACCTGTGTGTCTGCCCATGTGCCTGGGACATGTGTCCGCCTGTGCGTCCATCCGTGTGTCCGTCTGCCCATGTGCCTGGGTCGCATGTCACCCTGTGTCCCAGCCGTATGTCCGTGGCTTTCCCACTGACTCGTCTCCATGCTTTCCCCCCACAGTGCTGCTCCTTCGAATGCCAGGTGAGTGTGCCCCCCGACCCCTGACCCCGCGCCCTGCACCCTGGGAACCTGAGTCTGGGGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGAAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCGTGCGGCCTCAGAGGGGAGG
Task1_train_28487
The gene COL6A1 (collagen type VI alpha 1 chain), on Chromosome 21, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Ullrich congenital muscular dystrophy 1A
GTGAGGCCCCTGCCCAGGAGACGGGGAGGCCCGCGGCGGCCGCAGGTGGAAAGTAATTCTGCGTTTCCATTTCTCTTTCCAGAAAAATAACGTGGAGCAAGTGGTAAGAGCCCTCCCCACCACCCCCAGCCGTGAGTCTGCACACGTCCACCCACACGTCCACCTGTGTGTTCAGGACGCATGTCCCTATGCATATCCGCCCATGTGCCCGGGACACATGTCCCCTGCGTGTCTGCCCGTGTGCCCGGGATGTGTGTCCCCCTGCGTGTCCACCTGTGTGTCTGCCCATGTGCCTGGGACATGTGTCCGCCTGTGCGTCCATCCGTGTGTCCGTCTGCCCATGTGCCTGGGTCGCATGTCACCCTGTGTCCCAGCCGTATGTCCGTGGCTTTCCCACTGACTCGTCTCCATGCTTTCCCCCCACAGTGCTGCTCCTTCGAATGCCAGGTGAGTGTGCCCCCCGACCCCTGACCCCGCGCCCTGCACCCTGGGAACCTGAGTCTGGGGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCGTGCGGCCTCAGAGGGGAGG
GTGAGGCCCCTGCCCAGGAGACGGGGAGGCCCGCGGCGGCCGCAGGTGGAAAGTAATTCTGCGTTTCCATTTCTCTTTCCAGAAAAATAACGTGGAGCAAGTGGTAAGAGCCCTCCCCACCACCCCCAGCCGTGAGTCTGCACACGTCCACCCACACGTCCACCTGTGTGTTCAGGACGCATGTCCCTATGCATATCCGCCCATGTGCCCGGGACACATGTCCCCTGCGTGTCTGCCCGTGTGCCCGGGATGTGTGTCCCCCTGCGTGTCCACCTGTGTGTCTGCCCATGTGCCTGGGACATGTGTCCGCCTGTGCGTCCATCCGTGTGTCCGTCTGCCCATGTGCCTGGGTCGCATGTCACCCTGTGTCCCAGCCGTATGTCCGTGGCTTTCCCACTGACTCGTCTCCATGCTTTCCCCCCACAGTGCTGCTCCTTCGAATGCCAGGTGAGTGTGCCCCCCGACCCCTGACCCCGCGCCCTGCACCCTGGGAACCTGAGTCTGGGGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGAAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCGTGCGGCCTCAGAGGGGAGG
Task1_train_28488
Located on Chromosome 21, this mutation impacts COL6A1 (collagen type VI alpha 1 chain). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Bethlem myopathy 1A
GTGAGGCCCCTGCCCAGGAGACGGGGAGGCCCGCGGCGGCCGCAGGTGGAAAGTAATTCTGCGTTTCCATTTCTCTTTCCAGAAAAATAACGTGGAGCAAGTGGTAAGAGCCCTCCCCACCACCCCCAGCCGTGAGTCTGCACACGTCCACCCACACGTCCACCTGTGTGTTCAGGACGCATGTCCCTATGCATATCCGCCCATGTGCCCGGGACACATGTCCCCTGCGTGTCTGCCCGTGTGCCCGGGATGTGTGTCCCCCTGCGTGTCCACCTGTGTGTCTGCCCATGTGCCTGGGACATGTGTCCGCCTGTGCGTCCATCCGTGTGTCCGTCTGCCCATGTGCCTGGGTCGCATGTCACCCTGTGTCCCAGCCGTATGTCCGTGGCTTTCCCACTGACTCGTCTCCATGCTTTCCCCCCACAGTGCTGCTCCTTCGAATGCCAGGTGAGTGTGCCCCCCGACCCCTGACCCCGCGCCCTGCACCCTGGGAACCTGAGTCTGGGGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCGTGCGGCCTCAGAGGGGAGG
GTGAGGCCCCTGCCCAGGAGACGGGGAGGCCCGCGGCGGCCGCAGGTGGAAAGTAATTCTGCGTTTCCATTTCTCTTTCCAGAAAAATAACGTGGAGCAAGTGGTAAGAGCCCTCCCCACCACCCCCAGCCGTGAGTCTGCACACGTCCACCCACACGTCCACCTGTGTGTTCAGGACGCATGTCCCTATGCATATCCGCCCATGTGCCCGGGACACATGTCCCCTGCGTGTCTGCCCGTGTGCCCGGGATGTGTGTCCCCCTGCGTGTCCACCTGTGTGTCTGCCCATGTGCCTGGGACATGTGTCCGCCTGTGCGTCCATCCGTGTGTCCGTCTGCCCATGTGCCTGGGTCGCATGTCACCCTGTGTCCCAGCCGTATGTCCGTGGCTTTCCCACTGACTCGTCTCCATGCTTTCCCCCCACAGTGCTGCTCCTTCGAATGCCAGGTGAGTGTGCCCCCCGACCCCTGACCCCGCGCCCTGCACCCTGGGAACCTGAGTCTGGGGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGAAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCGTGCGGCCTCAGAGGGGAGG
Task1_train_28489
This variant lies on Chromosome 21 and affects the gene COL6A1 (collagen type VI alpha 1 chain). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Collagen 6-related myopathy
CCTGCCCAGGAGACGGGGAGGCCCGCGGCGGCCGCAGGTGGAAAGTAATTCTGCGTTTCCATTTCTCTTTCCAGAAAAATAACGTGGAGCAAGTGGTAAGAGCCCTCCCCACCACCCCCAGCCGTGAGTCTGCACACGTCCACCCACACGTCCACCTGTGTGTTCAGGACGCATGTCCCTATGCATATCCGCCCATGTGCCCGGGACACATGTCCCCTGCGTGTCTGCCCGTGTGCCCGGGATGTGTGTCCCCCTGCGTGTCCACCTGTGTGTCTGCCCATGTGCCTGGGACATGTGTCCGCCTGTGCGTCCATCCGTGTGTCCGTCTGCCCATGTGCCTGGGTCGCATGTCACCCTGTGTCCCAGCCGTATGTCCGTGGCTTTCCCACTGACTCGTCTCCATGCTTTCCCCCCACAGTGCTGCTCCTTCGAATGCCAGGTGAGTGTGCCCCCCGACCCCTGACCCCGCGCCCTGCACCCTGGGAACCTGAGTCTGGGGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCGTGCGGCCTCAGAGGGGAGGAGCTGGTG
CCTGCCCAGGAGACGGGGAGGCCCGCGGCGGCCGCAGGTGGAAAGTAATTCTGCGTTTCCATTTCTCTTTCCAGAAAAATAACGTGGAGCAAGTGGTAAGAGCCCTCCCCACCACCCCCAGCCGTGAGTCTGCACACGTCCACCCACACGTCCACCTGTGTGTTCAGGACGCATGTCCCTATGCATATCCGCCCATGTGCCCGGGACACATGTCCCCTGCGTGTCTGCCCGTGTGCCCGGGATGTGTGTCCCCCTGCGTGTCCACCTGTGTGTCTGCCCATGTGCCTGGGACATGTGTCCGCCTGTGCGTCCATCCGTGTGTCCGTCTGCCCATGTGCCTGGGTCGCATGTCACCCTGTGTCCCAGCCGTATGTCCGTGGCTTTCCCACTGACTCGTCTCCATGCTTTCCCCCCACAGTGCTGCTCCTTCGAATGCCAGGTGAGTGTGCCCCCCGACCCCTGACCCCGCGCCCTGCACCCTGGGAACCTGAGTCTGGGGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCAGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCGTGCGGCCTCAGAGGGGAGGAGCTGGTG
Task1_train_28490
This sequence change occurs on Chromosome 21, altering COL6A1 (collagen type VI alpha 1 chain). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Ullrich congenital muscular dystrophy 1A
CCTGCCCAGGAGACGGGGAGGCCCGCGGCGGCCGCAGGTGGAAAGTAATTCTGCGTTTCCATTTCTCTTTCCAGAAAAATAACGTGGAGCAAGTGGTAAGAGCCCTCCCCACCACCCCCAGCCGTGAGTCTGCACACGTCCACCCACACGTCCACCTGTGTGTTCAGGACGCATGTCCCTATGCATATCCGCCCATGTGCCCGGGACACATGTCCCCTGCGTGTCTGCCCGTGTGCCCGGGATGTGTGTCCCCCTGCGTGTCCACCTGTGTGTCTGCCCATGTGCCTGGGACATGTGTCCGCCTGTGCGTCCATCCGTGTGTCCGTCTGCCCATGTGCCTGGGTCGCATGTCACCCTGTGTCCCAGCCGTATGTCCGTGGCTTTCCCACTGACTCGTCTCCATGCTTTCCCCCCACAGTGCTGCTCCTTCGAATGCCAGGTGAGTGTGCCCCCCGACCCCTGACCCCGCGCCCTGCACCCTGGGAACCTGAGTCTGGGGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCGTGCGGCCTCAGAGGGGAGGAGCTGGTG
CCTGCCCAGGAGACGGGGAGGCCCGCGGCGGCCGCAGGTGGAAAGTAATTCTGCGTTTCCATTTCTCTTTCCAGAAAAATAACGTGGAGCAAGTGGTAAGAGCCCTCCCCACCACCCCCAGCCGTGAGTCTGCACACGTCCACCCACACGTCCACCTGTGTGTTCAGGACGCATGTCCCTATGCATATCCGCCCATGTGCCCGGGACACATGTCCCCTGCGTGTCTGCCCGTGTGCCCGGGATGTGTGTCCCCCTGCGTGTCCACCTGTGTGTCTGCCCATGTGCCTGGGACATGTGTCCGCCTGTGCGTCCATCCGTGTGTCCGTCTGCCCATGTGCCTGGGTCGCATGTCACCCTGTGTCCCAGCCGTATGTCCGTGGCTTTCCCACTGACTCGTCTCCATGCTTTCCCCCCACAGTGCTGCTCCTTCGAATGCCAGGTGAGTGTGCCCCCCGACCCCTGACCCCGCGCCCTGCACCCTGGGAACCTGAGTCTGGGGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCAGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCGTGCGGCCTCAGAGGGGAGGAGCTGGTG
Task1_train_28491
Given a variant located on Chromosome 21 and affecting COL6A1 (collagen type VI alpha 1 chain), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Bethlem myopathy 1A
CCTGCCCAGGAGACGGGGAGGCCCGCGGCGGCCGCAGGTGGAAAGTAATTCTGCGTTTCCATTTCTCTTTCCAGAAAAATAACGTGGAGCAAGTGGTAAGAGCCCTCCCCACCACCCCCAGCCGTGAGTCTGCACACGTCCACCCACACGTCCACCTGTGTGTTCAGGACGCATGTCCCTATGCATATCCGCCCATGTGCCCGGGACACATGTCCCCTGCGTGTCTGCCCGTGTGCCCGGGATGTGTGTCCCCCTGCGTGTCCACCTGTGTGTCTGCCCATGTGCCTGGGACATGTGTCCGCCTGTGCGTCCATCCGTGTGTCCGTCTGCCCATGTGCCTGGGTCGCATGTCACCCTGTGTCCCAGCCGTATGTCCGTGGCTTTCCCACTGACTCGTCTCCATGCTTTCCCCCCACAGTGCTGCTCCTTCGAATGCCAGGTGAGTGTGCCCCCCGACCCCTGACCCCGCGCCCTGCACCCTGGGAACCTGAGTCTGGGGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCGTGCGGCCTCAGAGGGGAGGAGCTGGTG
CCTGCCCAGGAGACGGGGAGGCCCGCGGCGGCCGCAGGTGGAAAGTAATTCTGCGTTTCCATTTCTCTTTCCAGAAAAATAACGTGGAGCAAGTGGTAAGAGCCCTCCCCACCACCCCCAGCCGTGAGTCTGCACACGTCCACCCACACGTCCACCTGTGTGTTCAGGACGCATGTCCCTATGCATATCCGCCCATGTGCCCGGGACACATGTCCCCTGCGTGTCTGCCCGTGTGCCCGGGATGTGTGTCCCCCTGCGTGTCCACCTGTGTGTCTGCCCATGTGCCTGGGACATGTGTCCGCCTGTGCGTCCATCCGTGTGTCCGTCTGCCCATGTGCCTGGGTCGCATGTCACCCTGTGTCCCAGCCGTATGTCCGTGGCTTTCCCACTGACTCGTCTCCATGCTTTCCCCCCACAGTGCTGCTCCTTCGAATGCCAGGTGAGTGTGCCCCCCGACCCCTGACCCCGCGCCCTGCACCCTGGGAACCTGAGTCTGGGGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCAGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCGTGCGGCCTCAGAGGGGAGGAGCTGGTG
Task1_train_28492
With a mutation on Chromosome 21 in gene COL6A1 (collagen type VI alpha 1 chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Ullrich congenital muscular dystrophy 1A
TGGGAACCTGAGTCTGGGGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCGTGCGGCCTCAGAGGGGAGGAGCTGGTGGAGGCTGGAGGCAGGCAGAGGAGCAGCGGGGACAGTGCCCACCGTGGGGACAGTGGCCGTGGCGCTCCCGCCCAGAGCCTTCCCTGCAGCCCGAGGGCCTTCAGGCCTCCGCCATTCTGTCCCCCGCACCTGCCGCTCGCTCGGCACAGATGGGACCCCACCGCGTCACTCCTAGCCTGCGAGCCGCAGCCCAGAATGGCTCTCAGAACTGAGAATGGGCTGGGTGGCACTGAGGGTGGCGAGTGGGCGGGAGGGTGGTGAGCGGGGGCGGGAGGAGGGTGGTGAGCGGGTGGGAGGGCGAGTGGGCAGCGGGAGGGCGGGAGCACGAGGCGGGAGAAGGAGCTTTTTCGTCTGACAGCTGAGTCTGCCGTTGCTGGTGTTTTCTCTGGAGTTTCTTTGTTGAAGCTGAAGTGTTGGGGAAGACAAAGGCGAATGCTGACCCCACCCCAAACATTCCCAGACGAGCTCCTAGAACCCAGC
TGGGAACCTGAGTCTGGGGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGAAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCGTGCGGCCTCAGAGGGGAGGAGCTGGTGGAGGCTGGAGGCAGGCAGAGGAGCAGCGGGGACAGTGCCCACCGTGGGGACAGTGGCCGTGGCGCTCCCGCCCAGAGCCTTCCCTGCAGCCCGAGGGCCTTCAGGCCTCCGCCATTCTGTCCCCCGCACCTGCCGCTCGCTCGGCACAGATGGGACCCCACCGCGTCACTCCTAGCCTGCGAGCCGCAGCCCAGAATGGCTCTCAGAACTGAGAATGGGCTGGGTGGCACTGAGGGTGGCGAGTGGGCGGGAGGGTGGTGAGCGGGGGCGGGAGGAGGGTGGTGAGCGGGTGGGAGGGCGAGTGGGCAGCGGGAGGGCGGGAGCACGAGGCGGGAGAAGGAGCTTTTTCGTCTGACAGCTGAGTCTGCCGTTGCTGGTGTTTTCTCTGGAGTTTCTTTGTTGAAGCTGAAGTGTTGGGGAAGACAAAGGCGAATGCTGACCCCACCCCAAACATTCCCAGACGAGCTCCTAGAACCCAGC
Task1_train_28493
Given this context: Chromosome 21, gene COL6A1 (collagen type VI alpha 1 chain) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Bethlem myopathy 1A
TGGGAACCTGAGTCTGGGGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCGTGCGGCCTCAGAGGGGAGGAGCTGGTGGAGGCTGGAGGCAGGCAGAGGAGCAGCGGGGACAGTGCCCACCGTGGGGACAGTGGCCGTGGCGCTCCCGCCCAGAGCCTTCCCTGCAGCCCGAGGGCCTTCAGGCCTCCGCCATTCTGTCCCCCGCACCTGCCGCTCGCTCGGCACAGATGGGACCCCACCGCGTCACTCCTAGCCTGCGAGCCGCAGCCCAGAATGGCTCTCAGAACTGAGAATGGGCTGGGTGGCACTGAGGGTGGCGAGTGGGCGGGAGGGTGGTGAGCGGGGGCGGGAGGAGGGTGGTGAGCGGGTGGGAGGGCGAGTGGGCAGCGGGAGGGCGGGAGCACGAGGCGGGAGAAGGAGCTTTTTCGTCTGACAGCTGAGTCTGCCGTTGCTGGTGTTTTCTCTGGAGTTTCTTTGTTGAAGCTGAAGTGTTGGGGAAGACAAAGGCGAATGCTGACCCCACCCCAAACATTCCCAGACGAGCTCCTAGAACCCAGC
TGGGAACCTGAGTCTGGGGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGAAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCGTGCGGCCTCAGAGGGGAGGAGCTGGTGGAGGCTGGAGGCAGGCAGAGGAGCAGCGGGGACAGTGCCCACCGTGGGGACAGTGGCCGTGGCGCTCCCGCCCAGAGCCTTCCCTGCAGCCCGAGGGCCTTCAGGCCTCCGCCATTCTGTCCCCCGCACCTGCCGCTCGCTCGGCACAGATGGGACCCCACCGCGTCACTCCTAGCCTGCGAGCCGCAGCCCAGAATGGCTCTCAGAACTGAGAATGGGCTGGGTGGCACTGAGGGTGGCGAGTGGGCGGGAGGGTGGTGAGCGGGGGCGGGAGGAGGGTGGTGAGCGGGTGGGAGGGCGAGTGGGCAGCGGGAGGGCGGGAGCACGAGGCGGGAGAAGGAGCTTTTTCGTCTGACAGCTGAGTCTGCCGTTGCTGGTGTTTTCTCTGGAGTTTCTTTGTTGAAGCTGAAGTGTTGGGGAAGACAAAGGCGAATGCTGACCCCACCCCAAACATTCCCAGACGAGCTCCTAGAACCCAGC
Task1_train_28494
Assess the clinical impact of this variant on gene COL6A1 (collagen type VI alpha 1 chain), found on Chromosome 21. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Bethlem myopathy 1A
TGAGTCTGGGGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCGTGCGGCCTCAGAGGGGAGGAGCTGGTGGAGGCTGGAGGCAGGCAGAGGAGCAGCGGGGACAGTGCCCACCGTGGGGACAGTGGCCGTGGCGCTCCCGCCCAGAGCCTTCCCTGCAGCCCGAGGGCCTTCAGGCCTCCGCCATTCTGTCCCCCGCACCTGCCGCTCGCTCGGCACAGATGGGACCCCACCGCGTCACTCCTAGCCTGCGAGCCGCAGCCCAGAATGGCTCTCAGAACTGAGAATGGGCTGGGTGGCACTGAGGGTGGCGAGTGGGCGGGAGGGTGGTGAGCGGGGGCGGGAGGAGGGTGGTGAGCGGGTGGGAGGGCGAGTGGGCAGCGGGAGGGCGGGAGCACGAGGCGGGAGAAGGAGCTTTTTCGTCTGACAGCTGAGTCTGCCGTTGCTGGTGTTTTCTCTGGAGTTTCTTTGTTGAAGCTGAAGTGTTGGGGAAGACAAAGGCGAATGCTGACCCCACCCCAAACATTCCCAGACGAGCTCCTAGAACCCAGCAGACGGTT
TGAGTCTGGGGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCAGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCGTGCGGCCTCAGAGGGGAGGAGCTGGTGGAGGCTGGAGGCAGGCAGAGGAGCAGCGGGGACAGTGCCCACCGTGGGGACAGTGGCCGTGGCGCTCCCGCCCAGAGCCTTCCCTGCAGCCCGAGGGCCTTCAGGCCTCCGCCATTCTGTCCCCCGCACCTGCCGCTCGCTCGGCACAGATGGGACCCCACCGCGTCACTCCTAGCCTGCGAGCCGCAGCCCAGAATGGCTCTCAGAACTGAGAATGGGCTGGGTGGCACTGAGGGTGGCGAGTGGGCGGGAGGGTGGTGAGCGGGGGCGGGAGGAGGGTGGTGAGCGGGTGGGAGGGCGAGTGGGCAGCGGGAGGGCGGGAGCACGAGGCGGGAGAAGGAGCTTTTTCGTCTGACAGCTGAGTCTGCCGTTGCTGGTGTTTTCTCTGGAGTTTCTTTGTTGAAGCTGAAGTGTTGGGGAAGACAAAGGCGAATGCTGACCCCACCCCAAACATTCCCAGACGAGCTCCTAGAACCCAGCAGACGGTT
Task1_train_28495
This genomic variant is located on Chromosome 21, within the COL6A1 (collagen type VI alpha 1 chain) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Ullrich congenital muscular dystrophy 1A
TGAGTCTGGGGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCGTGCGGCCTCAGAGGGGAGGAGCTGGTGGAGGCTGGAGGCAGGCAGAGGAGCAGCGGGGACAGTGCCCACCGTGGGGACAGTGGCCGTGGCGCTCCCGCCCAGAGCCTTCCCTGCAGCCCGAGGGCCTTCAGGCCTCCGCCATTCTGTCCCCCGCACCTGCCGCTCGCTCGGCACAGATGGGACCCCACCGCGTCACTCCTAGCCTGCGAGCCGCAGCCCAGAATGGCTCTCAGAACTGAGAATGGGCTGGGTGGCACTGAGGGTGGCGAGTGGGCGGGAGGGTGGTGAGCGGGGGCGGGAGGAGGGTGGTGAGCGGGTGGGAGGGCGAGTGGGCAGCGGGAGGGCGGGAGCACGAGGCGGGAGAAGGAGCTTTTTCGTCTGACAGCTGAGTCTGCCGTTGCTGGTGTTTTCTCTGGAGTTTCTTTGTTGAAGCTGAAGTGTTGGGGAAGACAAAGGCGAATGCTGACCCCACCCCAAACATTCCCAGACGAGCTCCTAGAACCCAGCAGACGGTT
TGAGTCTGGGGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCAGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCGTGCGGCCTCAGAGGGGAGGAGCTGGTGGAGGCTGGAGGCAGGCAGAGGAGCAGCGGGGACAGTGCCCACCGTGGGGACAGTGGCCGTGGCGCTCCCGCCCAGAGCCTTCCCTGCAGCCCGAGGGCCTTCAGGCCTCCGCCATTCTGTCCCCCGCACCTGCCGCTCGCTCGGCACAGATGGGACCCCACCGCGTCACTCCTAGCCTGCGAGCCGCAGCCCAGAATGGCTCTCAGAACTGAGAATGGGCTGGGTGGCACTGAGGGTGGCGAGTGGGCGGGAGGGTGGTGAGCGGGGGCGGGAGGAGGGTGGTGAGCGGGTGGGAGGGCGAGTGGGCAGCGGGAGGGCGGGAGCACGAGGCGGGAGAAGGAGCTTTTTCGTCTGACAGCTGAGTCTGCCGTTGCTGGTGTTTTCTCTGGAGTTTCTTTGTTGAAGCTGAAGTGTTGGGGAAGACAAAGGCGAATGCTGACCCCACCCCAAACATTCCCAGACGAGCTCCTAGAACCCAGCAGACGGTT
Task1_train_28496
This variant impacts the gene COL6A1 (collagen type VI alpha 1 chain) on Chromosome 21. Is the change likely to result in a pathogenic outcome?
Pathogenic; Inborn genetic diseases
TGAGTCTGGGGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCGTGCGGCCTCAGAGGGGAGGAGCTGGTGGAGGCTGGAGGCAGGCAGAGGAGCAGCGGGGACAGTGCCCACCGTGGGGACAGTGGCCGTGGCGCTCCCGCCCAGAGCCTTCCCTGCAGCCCGAGGGCCTTCAGGCCTCCGCCATTCTGTCCCCCGCACCTGCCGCTCGCTCGGCACAGATGGGACCCCACCGCGTCACTCCTAGCCTGCGAGCCGCAGCCCAGAATGGCTCTCAGAACTGAGAATGGGCTGGGTGGCACTGAGGGTGGCGAGTGGGCGGGAGGGTGGTGAGCGGGGGCGGGAGGAGGGTGGTGAGCGGGTGGGAGGGCGAGTGGGCAGCGGGAGGGCGGGAGCACGAGGCGGGAGAAGGAGCTTTTTCGTCTGACAGCTGAGTCTGCCGTTGCTGGTGTTTTCTCTGGAGTTTCTTTGTTGAAGCTGAAGTGTTGGGGAAGACAAAGGCGAATGCTGACCCCACCCCAAACATTCCCAGACGAGCTCCTAGAACCCAGCAGACGGTT
TGAGTCTGGGGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCAGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCGTGCGGCCTCAGAGGGGAGGAGCTGGTGGAGGCTGGAGGCAGGCAGAGGAGCAGCGGGGACAGTGCCCACCGTGGGGACAGTGGCCGTGGCGCTCCCGCCCAGAGCCTTCCCTGCAGCCCGAGGGCCTTCAGGCCTCCGCCATTCTGTCCCCCGCACCTGCCGCTCGCTCGGCACAGATGGGACCCCACCGCGTCACTCCTAGCCTGCGAGCCGCAGCCCAGAATGGCTCTCAGAACTGAGAATGGGCTGGGTGGCACTGAGGGTGGCGAGTGGGCGGGAGGGTGGTGAGCGGGGGCGGGAGGAGGGTGGTGAGCGGGTGGGAGGGCGAGTGGGCAGCGGGAGGGCGGGAGCACGAGGCGGGAGAAGGAGCTTTTTCGTCTGACAGCTGAGTCTGCCGTTGCTGGTGTTTTCTCTGGAGTTTCTTTGTTGAAGCTGAAGTGTTGGGGAAGACAAAGGCGAATGCTGACCCCACCCCAAACATTCCCAGACGAGCTCCTAGAACCCAGCAGACGGTT
Task1_train_28497
Mutation context: Chromosome 21, Gene COL6A1 (collagen type VI alpha 1 chain). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Abnormality of the musculature
TGAGTCTGGGGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCGTGCGGCCTCAGAGGGGAGGAGCTGGTGGAGGCTGGAGGCAGGCAGAGGAGCAGCGGGGACAGTGCCCACCGTGGGGACAGTGGCCGTGGCGCTCCCGCCCAGAGCCTTCCCTGCAGCCCGAGGGCCTTCAGGCCTCCGCCATTCTGTCCCCCGCACCTGCCGCTCGCTCGGCACAGATGGGACCCCACCGCGTCACTCCTAGCCTGCGAGCCGCAGCCCAGAATGGCTCTCAGAACTGAGAATGGGCTGGGTGGCACTGAGGGTGGCGAGTGGGCGGGAGGGTGGTGAGCGGGGGCGGGAGGAGGGTGGTGAGCGGGTGGGAGGGCGAGTGGGCAGCGGGAGGGCGGGAGCACGAGGCGGGAGAAGGAGCTTTTTCGTCTGACAGCTGAGTCTGCCGTTGCTGGTGTTTTCTCTGGAGTTTCTTTGTTGAAGCTGAAGTGTTGGGGAAGACAAAGGCGAATGCTGACCCCACCCCAAACATTCCCAGACGAGCTCCTAGAACCCAGCAGACGGTT
TGAGTCTGGGGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCAGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCGTGCGGCCTCAGAGGGGAGGAGCTGGTGGAGGCTGGAGGCAGGCAGAGGAGCAGCGGGGACAGTGCCCACCGTGGGGACAGTGGCCGTGGCGCTCCCGCCCAGAGCCTTCCCTGCAGCCCGAGGGCCTTCAGGCCTCCGCCATTCTGTCCCCCGCACCTGCCGCTCGCTCGGCACAGATGGGACCCCACCGCGTCACTCCTAGCCTGCGAGCCGCAGCCCAGAATGGCTCTCAGAACTGAGAATGGGCTGGGTGGCACTGAGGGTGGCGAGTGGGCGGGAGGGTGGTGAGCGGGGGCGGGAGGAGGGTGGTGAGCGGGTGGGAGGGCGAGTGGGCAGCGGGAGGGCGGGAGCACGAGGCGGGAGAAGGAGCTTTTTCGTCTGACAGCTGAGTCTGCCGTTGCTGGTGTTTTCTCTGGAGTTTCTTTGTTGAAGCTGAAGTGTTGGGGAAGACAAAGGCGAATGCTGACCCCACCCCAAACATTCCCAGACGAGCTCCTAGAACCCAGCAGACGGTT
Task1_train_28498
A variant was discovered in gene COL6A1 (collagen type VI alpha 1 chain), Chromosome 21. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Bethlem myopathy 1A
TGAGTCTGGGGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCGTGCGGCCTCAGAGGGGAGGAGCTGGTGGAGGCTGGAGGCAGGCAGAGGAGCAGCGGGGACAGTGCCCACCGTGGGGACAGTGGCCGTGGCGCTCCCGCCCAGAGCCTTCCCTGCAGCCCGAGGGCCTTCAGGCCTCCGCCATTCTGTCCCCCGCACCTGCCGCTCGCTCGGCACAGATGGGACCCCACCGCGTCACTCCTAGCCTGCGAGCCGCAGCCCAGAATGGCTCTCAGAACTGAGAATGGGCTGGGTGGCACTGAGGGTGGCGAGTGGGCGGGAGGGTGGTGAGCGGGGGCGGGAGGAGGGTGGTGAGCGGGTGGGAGGGCGAGTGGGCAGCGGGAGGGCGGGAGCACGAGGCGGGAGAAGGAGCTTTTTCGTCTGACAGCTGAGTCTGCCGTTGCTGGTGTTTTCTCTGGAGTTTCTTTGTTGAAGCTGAAGTGTTGGGGAAGACAAAGGCGAATGCTGACCCCACCCCAAACATTCCCAGACGAGCTCCTAGAACCCAGCAGACGGTT
TGAGTCTGGGGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCCGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCGTGCGGCCTCAGAGGGGAGGAGCTGGTGGAGGCTGGAGGCAGGCAGAGGAGCAGCGGGGACAGTGCCCACCGTGGGGACAGTGGCCGTGGCGCTCCCGCCCAGAGCCTTCCCTGCAGCCCGAGGGCCTTCAGGCCTCCGCCATTCTGTCCCCCGCACCTGCCGCTCGCTCGGCACAGATGGGACCCCACCGCGTCACTCCTAGCCTGCGAGCCGCAGCCCAGAATGGCTCTCAGAACTGAGAATGGGCTGGGTGGCACTGAGGGTGGCGAGTGGGCGGGAGGGTGGTGAGCGGGGGCGGGAGGAGGGTGGTGAGCGGGTGGGAGGGCGAGTGGGCAGCGGGAGGGCGGGAGCACGAGGCGGGAGAAGGAGCTTTTTCGTCTGACAGCTGAGTCTGCCGTTGCTGGTGTTTTCTCTGGAGTTTCTTTGTTGAAGCTGAAGTGTTGGGGAAGACAAAGGCGAATGCTGACCCCACCCCAAACATTCCCAGACGAGCTCCTAGAACCCAGCAGACGGTT
Task1_train_28499
A genomic change on Chromosome 21 affects COL6A1 (collagen type VI alpha 1 chain). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Bethlem myopathy 1A
TGAGTCTGGGGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCGTGCGGCCTCAGAGGGGAGGAGCTGGTGGAGGCTGGAGGCAGGCAGAGGAGCAGCGGGGACAGTGCCCACCGTGGGGACAGTGGCCGTGGCGCTCCCGCCCAGAGCCTTCCCTGCAGCCCGAGGGCCTTCAGGCCTCCGCCATTCTGTCCCCCGCACCTGCCGCTCGCTCGGCACAGATGGGACCCCACCGCGTCACTCCTAGCCTGCGAGCCGCAGCCCAGAATGGCTCTCAGAACTGAGAATGGGCTGGGTGGCACTGAGGGTGGCGAGTGGGCGGGAGGGTGGTGAGCGGGGGCGGGAGGAGGGTGGTGAGCGGGTGGGAGGGCGAGTGGGCAGCGGGAGGGCGGGAGCACGAGGCGGGAGAAGGAGCTTTTTCGTCTGACAGCTGAGTCTGCCGTTGCTGGTGTTTTCTCTGGAGTTTCTTTGTTGAAGCTGAAGTGTTGGGGAAGACAAAGGCGAATGCTGACCCCACCCCAAACATTCCCAGACGAGCTCCTAGAACCCAGCAGACGGTT
TGAGTCTGGGGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCTGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCGTGCGGCCTCAGAGGGGAGGAGCTGGTGGAGGCTGGAGGCAGGCAGAGGAGCAGCGGGGACAGTGCCCACCGTGGGGACAGTGGCCGTGGCGCTCCCGCCCAGAGCCTTCCCTGCAGCCCGAGGGCCTTCAGGCCTCCGCCATTCTGTCCCCCGCACCTGCCGCTCGCTCGGCACAGATGGGACCCCACCGCGTCACTCCTAGCCTGCGAGCCGCAGCCCAGAATGGCTCTCAGAACTGAGAATGGGCTGGGTGGCACTGAGGGTGGCGAGTGGGCGGGAGGGTGGTGAGCGGGGGCGGGAGGAGGGTGGTGAGCGGGTGGGAGGGCGAGTGGGCAGCGGGAGGGCGGGAGCACGAGGCGGGAGAAGGAGCTTTTTCGTCTGACAGCTGAGTCTGCCGTTGCTGGTGTTTTCTCTGGAGTTTCTTTGTTGAAGCTGAAGTGTTGGGGAAGACAAAGGCGAATGCTGACCCCACCCCAAACATTCCCAGACGAGCTCCTAGAACCCAGCAGACGGTT