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_7500
This variant impacts the gene GATA2 (GATA binding protein 2) on Chromosome 3. Is the change likely to result in a pathogenic outcome?
Pathogenic; Deafness-lymphedema-leukemia syndrome
GACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCATTTTTTTAATATTTTTTCTTTTGTCTCAGAGTAGGAGGCGAGGGGGTTGAAGGGTTAGCAGAAAAAGGATGTATTTACAGGGTCCACCTGACAAGACAGGCTGTGGCTTGCGCTCAGTAAGGGGACACAGTCACAGCAGCTTCGGCCTCAAAGCCAAGGGAGCGATCTGGGAGACGTTTCCCCTTTCAAGAAAATGTTGTTTCCTTCCTGTGACCCAGCCCTGGCCTGGGAATCTGTGCAGGACCGCCCGTGATTGTCTCTGCCCTCCAGGGCCTGGCCCGTCAAAGCAGGCACCAGCTCACCCTCCCTGGGCCGTGGCCACTCTGGCTTTGGCTCAGCCCAGCCTGGAGTTCGGCTATTTCAGAGAGGGAAGCCAGAGGAGAAGAGGGTGCAGGCTGAGGTCCCCACAAATCTGCCCCCAGAGCCCTGGCAAGTGGACCCGCCAATCCCGAGGAAGAACCGGAGGACTTGGGACAGCTCAGACCACCAAGTCTCCAAGTCCTTGTTAGAAACAAGAGCAAAATAAATTATTTTTGCCTAATCCTTTTTCCTTCTAAAAATGGTTGCCTTCGTCTGTCCCGTCCCCTCCTTTTCTCTACATAAAGTTGTCCTTGTTGTTCTCCAAACAACTGTCCATGCAGGAAACCCCACCTGGGCAGCGGTCAGGTGCGGAGGCAGCCTCTCAGCGGTGGGGAACATTCACAGTAACTGCTGGCAGGCTGCTGGGCGCCCTCCAGGAGAGGGGGTGCTGGGCCGAGCCGGGCTGGCAGGAGTGGTGTCGGCCTTCGGGAAATGCTGGGCTGCTAAGGGTTTGGTCCACCCATCCCGGGAGTGCCCGGTCCTCGACGTCCATCTGTTCCCTAGCCCATGGCGGTCACCATGCTGGACGGGTGGGGGTGGCCGAAGGAGAGGCTGGAGGAGGGGTGGATGGGCGTCGGAGTGGGCAGGATGTGTCCGGAGTGGCTGAAGGGCGGGAGGTGGCCCACAGGTGCCATGTGTCCAGCCAGGGCAGCTGCACTGAAGGGGGATGACTTCTCCTGCATGCACTTTGACAGCTCCTCGAAGCACTCCGCCCCTTTCTTGCTCTTCTTGGACTTGTTGGACATCTTCCGGTTCCGAGTCTGGATCCCTTCCTTCTTCATGGTCAGTGGCCTGTTAACCTAGAGGCAACCACCAGTTTTCAGAGGGCCAGTTCCTTCCTCCAGCAACATTCCTCCCACCCCGCCACAGCGTGGACCAGAGGCAGGTCAAGCTGAGGGTCCCAGGAAGCCAGGAATTGTGCCCGACCTTCATAGTCCCATCACCAGATGGCTACCATTCCAGGAAGGGCGGGTTCTGGCATATGGGGCTGACCCACACCCTCCCTGGCTCTGCCCACCGCATGCCAGCACTGCCCAGCCAACTGAAGTCCTCCCCCCCACCCTGACCCTTTTTAAGCAGAGAAACCACTTCCCTAGTCCGAGACCCTGTCCTAGCCAGCTCCACCTCCTGAGCAGAGGCAAGGCACCCCTCTTACGGGAAGCCCTTCTGGCGCTCACTCAGGGCAGCAGCTTCCCAAGCCAAGCCAAGCTGGATATTGTGGCTGGGGCCTCTTGCCTGGCAGCACAAAGCGCAGAGGTCCCCTGGGAGGGGCGGGGTGGCCGGGGCGGGGCGCACTCACATTGTGCAGCTTGTAGTAGAGGCCACAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTGTGTCTCCTCTAGCACGACTCCGCTCAAAATCCATAATCCTGGGTGAGTCAGTGTCGCTGAGGCCAGCGCAGGTTTACAGAGTGCAGAGCTGCACCGTCCAACACTGTAGCAGCTGGCCACAGGCAGCCATTTAAATAAGATCTAACTACAAATTAACAAAATTAAAAACCCAGTTCCCTCAATTGCACGAGCCACATTTCAAGTGATCAATATTCACATGTGGCCAGGGGCTACCACAGTGGGCAGTGCAGACACAGAACTTTTCCATCTCTCCAGCTGATGTGAGTGCTGATCCCCCCCATCCAGCCCCCCATACCCCAACCCTTAGAGCTTTAACCACCCCGCAGCCCCTCTGAGTCCTAGTCCCTCAGGAAATGCCTGGCAGAGGTAGGGTCTGGAAATGAGCGCCTGGTCCTTGCAGAGAGAAGCTAGAGGGAGGCTTTACCCAAGAAAACAGATCCCCTCTCCCGGTTCCACCAACGCCAGCCCCACAGTGACAGAGGGGGTCCCCCAACACTTCCCAGAGAACTGCAGGCGGGAGTGCACCAGGTGGTGAGTGTGGGGGGCTGGGGGCTGAGGCCTGCAGAGCCTGGAACAGCCCCAGGCCCAAGCCTGGTCACAGAAGGGACAGAGGGACTGCAGCCGCGGGGGCAGGGAGGGGTGAGTAAGCAGCCTGAAGCTGGAATTCTGACTCAGGGGCCAACGCCGCGTCCTCCACCTCTACCCCCACCCGGGCCTCACCCCGCCCTCGCTCCAGGGGAAAAAAAGGCCCCCAAAGCAGGGAACGATTTAAGCCTCATAAATCACTTCGCCCTGAAAAAATATATTTATTATTCTTAGCATTTTACGCATTATTTGCAGAGTGGAGGGTATTAGAAATTTCAAAACAGCCCAGCGAGAGGCAGGACTGAGCTGAGGAGACTCTAAAAACTCGCAGAGTCCGGAAACAGATACACGAAGTTTCCTTATCTTCAGGCTGCAGATGTCCGGATAGGAAACTCCGGCAGGAGATCCGAAAGGGCATTTTTTTAAAATCACTCAAATGAAAATACACAGTATAGGTGACTCCATGGAAAAATAATAAAGGGCAGGTTTTTTTAGTGGCCGGTGTGAGTTTGTGTTTTATTTAAATAAGCACGAGGAGCTTGTGAGCGGGGCTGTCGGGGAGGGCTGAGCCACAAGGAAAAGTACTTCATGGCCCTATTTTTAAAAAAGAGCTAAGCAGAGGCCAGAGGACAGGAGTCCGGCCCGTGGACACTCAACTTCGGGGATCCCGGAGCAGAGTGGGGTGGCGCAAGGGTGCCCGGTGGGCTCCCTATACCCGAGGAGGAAATCTGGCCCGAAAGAATCTGGCCAGAAAGAGAGACGACCCCAACTGACATCCCAGTGCTTTTCATGATAAAAGAGGATTTCAAGCGGCAAAGCGTCTGCATTTGAAGGAGTTTTTTTCCCCTGTAATTAACCGCCAGCTCCTGCCCAGCAGCCCCCTCCCAGCCACCTGTGCCCGCTCCTACCAGTCTTCGCTTGGGCTTGATGAGTGGTCGGTTCTGCCCATTCATCTTGTGGTAGAGGCCACAGGCATTGCACAGGTAGTGGCCGGTGCC
GACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCATTTTTTTAATATTTTTTCTTTTGTCTCAGAGTAGGAGGCGAGGGGGTTGAAGGGTTAGCAGAAAAAGGATGTATTTACAGGGTCCACCTGACAAGACAGGCTGTGGCTTGCGCTCAGTAAGGGGACACAGTCACAGCAGCTTCGGCCTCAAAGCCAAGGGAGCGATCTGGGAGACGTTTCCCCTTTCAAGAAAATGTTGTTTCCTTCCTGTGACCCAGCCCTGGCCTGGGAATCTGTGCAGGACCGCCCGTGATTGTCTCTGCCCTCCAGGGCCTGGCCCGTCAAAGCAGGCACCAGCTCACCCTCCCTGGGCCGTGGCCACTCTGGCTTTGGCTCAGCCCAGCCTGGAGTTCGGCTATTTCAGAGAGGGAAGCCAGAGGAGAAGAGGGTGCAGGCTGAGGTCCCCACAAATCTGCCCCCAGAGCCCTGGCAAGTGGACCCGCCAATCCCGAGGAAGAACCGGAGGACTTGGGACAGCTCAGACCACCAAGTCTCCAAGTCCTTGTTAGAAACAAGAGCAAAATAAATTATTTTTGCCTAATCCTTTTTCCTTCTAAAAATGGTTGCCTTCGTCTGTCCCGTCCCCTCCTTTTCTCTACATAAAGTTGTCCTTGTTGTTCTCCAAACAACTGTCCATGCAGGAAACCCCACCTGGGCAGCGGTCAGGTGCGGAGGCAGCCTCTCAGCGGTGGGGAACATTCACAGTAACTGCTGGCAGGCTGCTGGGCGCCCTCCAGGAGAGGGGGTGCTGGGCCGAGCCGGGCTGGCAGGAGTGGTGTCGGCCTTCGGGAAATGCTGGGCTGCTAAGGGTTTGGTCCACCCATCCCGGGAGTGCCCGGTCCTCGACGTCCATCTGTTCCCTAGCCCATGGCGGTCACCATGCTGGACGGGTGGGGGTGGCCGAAGGAGAGGCTGGAGGAGGGGTGGATGGGCGTCGGAGTGGGCAGGATGTGTCCGGAGTGGCTGAAGGGCGGGAGGTGGCCCACAGGTGCCATGTGTCCAGCCAGGGCAGCTGCACTGAAGGGGGATGACTTCTCCTGCATGCACTTTGACAGCTCCTCGAAGCACTCCGCCCCTTTCTTGCTCTTCTTGGACTTGTTGGACATCTTCCGGTTCCGAGTCTGGATCCCTTCCTTCTTCATGGTCAGTGGCCTGTTAACCTAGAGGCAACCACCAGTTTTCAGAGGGCCAGTTCCTTCCTCCAGCAACATTCCTCCCACCCCGCCACAGCGTGGACCAGAGGCAGGTCAAGCTGAGGGTCCCAGGAAGCCAGGAATTGTGCCCGACCTTCATAGTCCCATCACCAGATGGCTACCATTCCAGGAAGGGCGGGTTCTGGCATATGGGGCTGACCCACACCCTCCCTGGCTCTGCCCACCGCATGCCAGCACTGCCCAGCCAACTGAAGTCCTCCCCCCCACCCTGACCCTTTTTAAGCAGAGAAACCACTTCCCTAGTCCGAGACCCTGTCCTAGCCAGCTCCACCTCCTGAGCAGAGGCAAGGCACCCCTCTTACGGGAAGCCCTTCTGGCGCTCACTCAGGGCAGCAGCTTCCCAAGCCAAGCCAAGCTGGATATTGTGGCTGGGGCCTCTTGCCTGGCAGCACAAAGCGCAGAGGTCCCCTGGGAGGGGCGGGGTGGCCGGGGCGGGGCGCACTCACATTGTGCAGCTTGTAGTAGAGGCCACAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGGCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTGTGTCTCCTCTAGCACGACTCCGCTCAAAATCCATAATCCTGGGTGAGTCAGTGTCGCTGAGGCCAGCGCAGGTTTACAGAGTGCAGAGCTGCACCGTCCAACACTGTAGCAGCTGGCCACAGGCAGCCATTTAAATAAGATCTAACTACAAATTAACAAAATTAAAAACCCAGTTCCCTCAATTGCACGAGCCACATTTCAAGTGATCAATATTCACATGTGGCCAGGGGCTACCACAGTGGGCAGTGCAGACACAGAACTTTTCCATCTCTCCAGCTGATGTGAGTGCTGATCCCCCCCATCCAGCCCCCCATACCCCAACCCTTAGAGCTTTAACCACCCCGCAGCCCCTCTGAGTCCTAGTCCCTCAGGAAATGCCTGGCAGAGGTAGGGTCTGGAAATGAGCGCCTGGTCCTTGCAGAGAGAAGCTAGAGGGAGGCTTTACCCAAGAAAACAGATCCCCTCTCCCGGTTCCACCAACGCCAGCCCCACAGTGACAGAGGGGGTCCCCCAACACTTCCCAGAGAACTGCAGGCGGGAGTGCACCAGGTGGTGAGTGTGGGGGGCTGGGGGCTGAGGCCTGCAGAGCCTGGAACAGCCCCAGGCCCAAGCCTGGTCACAGAAGGGACAGAGGGACTGCAGCCGCGGGGGCAGGGAGGGGTGAGTAAGCAGCCTGAAGCTGGAATTCTGACTCAGGGGCCAACGCCGCGTCCTCCACCTCTACCCCCACCCGGGCCTCACCCCGCCCTCGCTCCAGGGGAAAAAAAGGCCCCCAAAGCAGGGAACGATTTAAGCCTCATAAATCACTTCGCCCTGAAAAAATATATTTATTATTCTTAGCATTTTACGCATTATTTGCAGAGTGGAGGGTATTAGAAATTTCAAAACAGCCCAGCGAGAGGCAGGACTGAGCTGAGGAGACTCTAAAAACTCGCAGAGTCCGGAAACAGATACACGAAGTTTCCTTATCTTCAGGCTGCAGATGTCCGGATAGGAAACTCCGGCAGGAGATCCGAAAGGGCATTTTTTTAAAATCACTCAAATGAAAATACACAGTATAGGTGACTCCATGGAAAAATAATAAAGGGCAGGTTTTTTTAGTGGCCGGTGTGAGTTTGTGTTTTATTTAAATAAGCACGAGGAGCTTGTGAGCGGGGCTGTCGGGGAGGGCTGAGCCACAAGGAAAAGTACTTCATGGCCCTATTTTTAAAAAAGAGCTAAGCAGAGGCCAGAGGACAGGAGTCCGGCCCGTGGACACTCAACTTCGGGGATCCCGGAGCAGAGTGGGGTGGCGCAAGGGTGCCCGGTGGGCTCCCTATACCCGAGGAGGAAATCTGGCCCGAAAGAATCTGGCCAGAAAGAGAGACGACCCCAACTGACATCCCAGTGCTTTTCATGATAAAAGAGGATTTCAAGCGGCAAAGCGTCTGCATTTGAAGGAGTTTTTTTCCCCTGTAATTAACCGCCAGCTCCTGCCCAGCAGCCCCCTCCCAGCCACCTGTGCCCGCTCCTACCAGTCTTCGCTTGGGCTTGATGAGTGGTCGGTTCTGCCCATTCATCTTGTGGTAGAGGCCACAGGCATTGCACAGGTAGTGGCCGGTGCC
Task1_train_7501
The gene GATA2 (GATA binding protein 2), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; GATA2 deficiency with susceptibility to MDS/AML
CGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTGTGTCTCCTCTAGCACGACTCCGCTCAAAATCCATAATCCTGGGTGAGTCAGTGTCGCTGAGGCCAGCGCAGGTTTACAGAGTGCAGAGCTGCACCGTCCAACACTGTAGCAGCTGGCCACAGGCAGCCATTTAAATAAGATCTAACTACAAATTAACAAAATTAAAAACCCAGTTCCCTCAATTGCACGAGCCACATTTCAAGTGATCAATATTCACATGTGGCCAGGGGCTACCACAGTGGGCAGTGCAGACACAGAACTTTTCCATCTCTCCAGCTGATGTGAGTGCTGATCCCCCCCATCCAGCCCCCCATACCCCAACCCTTAGAGCTTTAACCACCCCGCAGCCCCTCTGAGTCCTAGTCCCTCAGGAAATGCCTGGCAGAGGTAGGGTCTGGAAATGAGCGCCTGGTCCTTGCAGAGAGAAGCTAGAGGGAGGCTTTACCCAAGAAAACAGATCCCCTCTCCCGGTTCCACCAACGCCAGCCCCACAGTGACAGAGGGGGTCCCCCAACACTTCCCAGAGAACTGCAGGCGGGAGTGCACCAGGTGGTGAGTGTGGGGGGCTGGGGGCTGAGGCCTGCAGAGCCTGGAACAGCCCCAGGCCCAAGCCTGGTCACAGAAGGGACAGAGGGACTGCAGCCGCGGGGGCAGGGAGGGGTGAGTAAGCAGCCTGAAGCTGGAATTCTGACTCAGGGGCCAACGCCGCGTCCTCCACCTCTACCCCCACCCGGGCCTCACCCCGCCCTCGCTCCAGGGGAAAAAAAGGCCCCCAAAGCAGGGAACGATTTAAGCCTCATAAATCACTTCGCCCTGAAAAAATATATTTATTATTCTTAGCATTTTACGCATTATTTGCAGAGTGGAGGGTATTAGAAATTTCAAAACAGCCCAGCGAGAGGCAGGACTGAGCTGAGGAGACTCTAAAAACTCGCAGAGTCCGGAAACAGATACACGAAGTTTCCTTATCTTCAGGCTGCAGATGTCCGGATAGGAAACTCCGGCAGGAGATCCGAAAGGGCATTTTTTTAAAATCACTCAAATGAAAATACACAGTATAGGTGACTCCATGGAAAAATAATAAAGGGCAGGTTTTTTTAGTGGCCGGTGTGAGTTTGTGTTTTATTTAAATAAGCACGAGGAGCTTGTGAGCGGGGCTGTCGGGGAGGGCTGAGCCACAAGGAAAAGTACTTCATGGCCCTATTTTTAAAAAAGAGCTAAGCAGAGGCCAGAGGACAGGAGTCCGGCCCGTGGACACTCAACTTCGGGGATCCCGGAGCAGAGTGGGGTGGCGCAAGGGTGCCCGGTGGGCTCCCTATACCCGAGGAGGAAATCTGGCCCGAAAGAATCTGGCCAGAAAGAGAGACGACCCCAACTGACATCCCAGTGCTTTTCATGATAAAAGAGGATTTCAAGCGGCAAAGCGTCTGCATTTGAAGGAGTTTTTTTCCCCTGTAATTAACCGCCAGCTCCTGCCCAGCAGCCCCCTCCCAGCCACCTGTGCCCGCTCCTACCAGTCTTCGCTTGGGCTTGATGAGTGGTCGGTTCTGCCCATTCATCTTGTGGTAGAGGCCACAGGCATTGCACAGGTAGTGGCCGGTGCCGTCCCGCCGCCAGAGAGGGGTGGCTGTGGCCCCACAGTTGACACACTCCCGGCCTTCTGCAGGGGAACAGGGAGAGACACGGGGGCCTGCTTAACCGGCAAGTTCTCGGGAGGGAGTCCAGGGCAGGAAAGCAGCCAGCCGAGCAGTGCCGGTGCCTCTCAGGCACACGGTTGGCCTGGGCCTGGCTGCAACAGCCTGGGCAGGAAGAGGGACGAGAGGGTCTCCCACATGGGAGGGGGCACAGGTCCAGAGTCGTTTAAAGCCAAATCCCCTGCTTCCAATCCTCACCAGGAGGGATGGAAACGAAGGAGGAGGGGAGGAGGGGCCCAGGGCCCCAGGCGTTCTGGAGCAACCAGGAGGGTATTTACTGCAAACTTTGCCGAGGGTAGGGTGGTGGCAGGAGTCACCCAGCTCAACCTGGCTGGGCCCAGGAGGCTCTCTCCTTCCCGCTCTGGCGCGTCTCTCCCCCTCTCCTCTTTTGTCCCTCTCCTTTCTACCCAACTGTGTCTGCCCCACCCCGTCTTTCTGCTCTAAGTCCAGAAGCATTTCCCTCTTTCTCCCCAACTTTTCTCCTCTTCCACCAAAGCTCTAGAATTTTTCTGAGTCCTGGAAATAATGGATCGAAGTTGTTGTTCTTTAAAATAAAATAAATAATAAGCTCTTTCTTTTTTAGATAAGTGGCCTGGGTTTTTTTTGTTTGTATTTTTTTTTTCAATTAAAAGACCATCTGGAATTCAAATAAAATGCAAAACAAACAGGAGAAAGGACCAAGAAAAGGCAAGCTGACGGGTCTGAGCAGAACTAGGACCCTGAGCCGGGGCTCAGCGGGTGCTGGGGCCAGCGGGGGCTGGGGCTGGGGACCAAGTTGAGCAGGATCACTGGCTGGCATCGTGTTCCCCAGGAAGTTATTCTTGATTTAGTTTAAACTAAATGAGGAGTACAGCCTGGCAAGAGAAGGTGGTTCCTGCACTCAGGAGTAACTGTTTTAAAAACCTTCCCCCTCTGTGGCTCAAAGGGATTCGGGAAAGAGACATGGACAGCAAGAACTCCACACTAGCCACGAGTTTCTGGGTTTATGCTCTGTGGCCAGATTCTTGGACAAACCCAGTTTGGCCCCAGCCAGCTGCGGGAAAAGGGGCGGGGGCACTGCAGCTTCATCCCCTCACTCCAGCCCTCAGGGAGGGAGAGGGAAGGGCCTGGCGAGGGCAGGGAGCAGGAGCAGGTCCTGGGAATTTTGCTCTGGGGAAAATCTCCCGAGGAGATCAGGGAGCCATCGAAATCCCAAGATCAGACTGATTGAGTTAGAGACCCAGATTCCTTAATGGTCTGGAACCTCCGGAGTGCCTGAAACATGCACACACAACATGCACACAGACACACGTATACACATGCACACACGCTCCCAAACACATGCACATACAGAGTCACTTCCCTCGCTTCACATACTAAGTCCTGAGGTGGCTTGAATTTTCACTTAAGATTCAGGGAGGGAAAGGGGGAATTCCTGTTCTATGTTCTGGTCAGGCAGTGACCAACCCTGGGGCAAGGAACTGAACTTTGGGGGTACACTGGAAGCACTTAAGAAAATGGCAAAAGTTTTAGAGTCTCCTCTCCCTGACCCGGGGGTCTCAAACATCTGCTGGGGGCTATTAGAGCGAGACATCACCCATCCCCAGATCTGGGAAACCAACACTGCCACCTCTCCCAAGTCACAGCTCCCCACCACAAAAACGCAAATGCTCCCCTCTTCCACGAAGTCCCCAGCACCTGCCTTTACCTGAACAGGAACGAGCCTTGCTGCGCTGCTTAGGGGTGAAGCTGGAGGCCGGTCCCCCCAGGAAGCCTCCGGGGTGGAAGAGTCCGCTGCTGTAGTCGTGGGCAGCCGCCGGCACATAGGAGGGGTAGGTGGGGATGGGGTGGTGTGTAGCAGGCTGGGTGCCCATAGTAGCTAGGCCTGGGCGCAGGGGACTGCCACTTTCCATCTTCATGCTCTCCGTCAGTGACACCTGGTACTTGACGCCGT
CGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTGTGTCTCCTCTAGCACGACTCCGCTCAAAATCCATAATCCTGGGTGAGTCAGTGTCGCTGAGGCCAGCGCAGGTTTACAGAGTGCAGAGCTGCACCGTCCAACACTGTAGCAGCTGGCCACAGGCAGCCATTTAAATAAGATCTAACTACAAATTAACAAAATTAAAAACCCAGTTCCCTCAATTGCACGAGCCACATTTCAAGTGATCAATATTCACATGTGGCCAGGGGCTACCACAGTGGGCAGTGCAGACACAGAACTTTTCCATCTCTCCAGCTGATGTGAGTGCTGATCCCCCCCATCCAGCCCCCCATACCCCAACCCTTAGAGCTTTAACCACCCCGCAGCCCCTCTGAGTCCTAGTCCCTCAGGAAATGCCTGGCAGAGGTAGGGTCTGGAAATGAGCGCCTGGTCCTTGCAGAGAGAAGCTAGAGGGAGGCTTTACCCAAGAAAACAGATCCCCTCTCCCGGTTCCACCAACGCCAGCCCCACAGTGACAGAGGGGGTCCCCCAACACTTCCCAGAGAACTGCAGGCGGGAGTGCACCAGGTGGTGAGTGTGGGGGGCTGGGGGCTGAGGCCTGCAGAGCCTGGAACAGCCCCAGGCCCAAGCCTGGTCACAGAAGGGACAGAGGGACTGCAGCCGCGGGGGCAGGGAGGGGTGAGTAAGCAGCCTGAAGCTGGAATTCTGACTCAGGGGCCAACGCCGCGTCCTCCACCTCTACCCCCACCCGGGCCTCACCCCGCCCTCGCTCCAGGGGAAAAAAAGGCCCCCAAAGCAGGGAACGATTTAAGCCTCATAAATCACTTCGCCCTGAAAAAATATATTTATTATTCTTAGCATTTTACGCATTATTTGCAGAGTGGAGGGTATTAGAAATTTCAAAACAGCCCAGCGAGAGGCAGGACTGAGCTGAGGAGACTCTAAAAACTCGCAGAGTCCGGAAACAGATACACGAAGTTTCCTTATCTTCAGGCTGCAGATGTCCGGATAGGAAACTCCGGCAGGAGATCCGAAAGGGCATTTTTTTAAAATCACTCAAATGAAAATACACAGTATAGGTGACTCCATGGAAAAATAATAAAGGGCAGGTTTTTTTAGTGGCCGGTGTGAGTTTGTGTTTTATTTAAATAAGCACGAGGAGCTTGTGAGCGGGGCTGTCGGGGAGGGCTGAGCCACAAGGAAAAGTACTTCATGGCCCTATTTTTAAAAAAGAGCTAAGCAGAGGCCAGAGGACAGGAGTCCGGCCCGTGGACACTCAACTTCGGGGATCCCGGAGCAGAGTGGGGTGGCGCAAGGGTGCCCGGTGGGCTCCCTATACCCGAGGAGGAAATCTGGCCCGAAAGAATCTGGCCAGAAAGAGAGACGACCCCAACTGACATCCCAGTGCTTTTCATGATAAAAGAGGATTTCAAGCGGCAAAGCGTCTGCATTTGAAGGAGTTTTTTTCCCCTGTAATTAACCGCCAGCTCCTGCCCAGCAGCCCCCTCCCAGCCACCTGTGCCCGCTCCTACCAGTCTTCGCTTGGGCTTGATGAGTGGTCGGTTCTGCCCATTCATCTTGTGGTAGAGGCCACAGGTATTGCACAGGTAGTGGCCGGTGCCGTCCCGCCGCCAGAGAGGGGTGGCTGTGGCCCCACAGTTGACACACTCCCGGCCTTCTGCAGGGGAACAGGGAGAGACACGGGGGCCTGCTTAACCGGCAAGTTCTCGGGAGGGAGTCCAGGGCAGGAAAGCAGCCAGCCGAGCAGTGCCGGTGCCTCTCAGGCACACGGTTGGCCTGGGCCTGGCTGCAACAGCCTGGGCAGGAAGAGGGACGAGAGGGTCTCCCACATGGGAGGGGGCACAGGTCCAGAGTCGTTTAAAGCCAAATCCCCTGCTTCCAATCCTCACCAGGAGGGATGGAAACGAAGGAGGAGGGGAGGAGGGGCCCAGGGCCCCAGGCGTTCTGGAGCAACCAGGAGGGTATTTACTGCAAACTTTGCCGAGGGTAGGGTGGTGGCAGGAGTCACCCAGCTCAACCTGGCTGGGCCCAGGAGGCTCTCTCCTTCCCGCTCTGGCGCGTCTCTCCCCCTCTCCTCTTTTGTCCCTCTCCTTTCTACCCAACTGTGTCTGCCCCACCCCGTCTTTCTGCTCTAAGTCCAGAAGCATTTCCCTCTTTCTCCCCAACTTTTCTCCTCTTCCACCAAAGCTCTAGAATTTTTCTGAGTCCTGGAAATAATGGATCGAAGTTGTTGTTCTTTAAAATAAAATAAATAATAAGCTCTTTCTTTTTTAGATAAGTGGCCTGGGTTTTTTTTGTTTGTATTTTTTTTTTCAATTAAAAGACCATCTGGAATTCAAATAAAATGCAAAACAAACAGGAGAAAGGACCAAGAAAAGGCAAGCTGACGGGTCTGAGCAGAACTAGGACCCTGAGCCGGGGCTCAGCGGGTGCTGGGGCCAGCGGGGGCTGGGGCTGGGGACCAAGTTGAGCAGGATCACTGGCTGGCATCGTGTTCCCCAGGAAGTTATTCTTGATTTAGTTTAAACTAAATGAGGAGTACAGCCTGGCAAGAGAAGGTGGTTCCTGCACTCAGGAGTAACTGTTTTAAAAACCTTCCCCCTCTGTGGCTCAAAGGGATTCGGGAAAGAGACATGGACAGCAAGAACTCCACACTAGCCACGAGTTTCTGGGTTTATGCTCTGTGGCCAGATTCTTGGACAAACCCAGTTTGGCCCCAGCCAGCTGCGGGAAAAGGGGCGGGGGCACTGCAGCTTCATCCCCTCACTCCAGCCCTCAGGGAGGGAGAGGGAAGGGCCTGGCGAGGGCAGGGAGCAGGAGCAGGTCCTGGGAATTTTGCTCTGGGGAAAATCTCCCGAGGAGATCAGGGAGCCATCGAAATCCCAAGATCAGACTGATTGAGTTAGAGACCCAGATTCCTTAATGGTCTGGAACCTCCGGAGTGCCTGAAACATGCACACACAACATGCACACAGACACACGTATACACATGCACACACGCTCCCAAACACATGCACATACAGAGTCACTTCCCTCGCTTCACATACTAAGTCCTGAGGTGGCTTGAATTTTCACTTAAGATTCAGGGAGGGAAAGGGGGAATTCCTGTTCTATGTTCTGGTCAGGCAGTGACCAACCCTGGGGCAAGGAACTGAACTTTGGGGGTACACTGGAAGCACTTAAGAAAATGGCAAAAGTTTTAGAGTCTCCTCTCCCTGACCCGGGGGTCTCAAACATCTGCTGGGGGCTATTAGAGCGAGACATCACCCATCCCCAGATCTGGGAAACCAACACTGCCACCTCTCCCAAGTCACAGCTCCCCACCACAAAAACGCAAATGCTCCCCTCTTCCACGAAGTCCCCAGCACCTGCCTTTACCTGAACAGGAACGAGCCTTGCTGCGCTGCTTAGGGGTGAAGCTGGAGGCCGGTCCCCCCAGGAAGCCTCCGGGGTGGAAGAGTCCGCTGCTGTAGTCGTGGGCAGCCGCCGGCACATAGGAGGGGTAGGTGGGGATGGGGTGGTGTGTAGCAGGCTGGGTGCCCATAGTAGCTAGGCCTGGGCGCAGGGGACTGCCACTTTCCATCTTCATGCTCTCCGTCAGTGACACCTGGTACTTGACGCCGT
Task1_train_7502
This mutation occurs in GATA2 (GATA binding protein 2) on Chromosome 3. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Deafness-lymphedema-leukemia syndrome
CGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTGTGTCTCCTCTAGCACGACTCCGCTCAAAATCCATAATCCTGGGTGAGTCAGTGTCGCTGAGGCCAGCGCAGGTTTACAGAGTGCAGAGCTGCACCGTCCAACACTGTAGCAGCTGGCCACAGGCAGCCATTTAAATAAGATCTAACTACAAATTAACAAAATTAAAAACCCAGTTCCCTCAATTGCACGAGCCACATTTCAAGTGATCAATATTCACATGTGGCCAGGGGCTACCACAGTGGGCAGTGCAGACACAGAACTTTTCCATCTCTCCAGCTGATGTGAGTGCTGATCCCCCCCATCCAGCCCCCCATACCCCAACCCTTAGAGCTTTAACCACCCCGCAGCCCCTCTGAGTCCTAGTCCCTCAGGAAATGCCTGGCAGAGGTAGGGTCTGGAAATGAGCGCCTGGTCCTTGCAGAGAGAAGCTAGAGGGAGGCTTTACCCAAGAAAACAGATCCCCTCTCCCGGTTCCACCAACGCCAGCCCCACAGTGACAGAGGGGGTCCCCCAACACTTCCCAGAGAACTGCAGGCGGGAGTGCACCAGGTGGTGAGTGTGGGGGGCTGGGGGCTGAGGCCTGCAGAGCCTGGAACAGCCCCAGGCCCAAGCCTGGTCACAGAAGGGACAGAGGGACTGCAGCCGCGGGGGCAGGGAGGGGTGAGTAAGCAGCCTGAAGCTGGAATTCTGACTCAGGGGCCAACGCCGCGTCCTCCACCTCTACCCCCACCCGGGCCTCACCCCGCCCTCGCTCCAGGGGAAAAAAAGGCCCCCAAAGCAGGGAACGATTTAAGCCTCATAAATCACTTCGCCCTGAAAAAATATATTTATTATTCTTAGCATTTTACGCATTATTTGCAGAGTGGAGGGTATTAGAAATTTCAAAACAGCCCAGCGAGAGGCAGGACTGAGCTGAGGAGACTCTAAAAACTCGCAGAGTCCGGAAACAGATACACGAAGTTTCCTTATCTTCAGGCTGCAGATGTCCGGATAGGAAACTCCGGCAGGAGATCCGAAAGGGCATTTTTTTAAAATCACTCAAATGAAAATACACAGTATAGGTGACTCCATGGAAAAATAATAAAGGGCAGGTTTTTTTAGTGGCCGGTGTGAGTTTGTGTTTTATTTAAATAAGCACGAGGAGCTTGTGAGCGGGGCTGTCGGGGAGGGCTGAGCCACAAGGAAAAGTACTTCATGGCCCTATTTTTAAAAAAGAGCTAAGCAGAGGCCAGAGGACAGGAGTCCGGCCCGTGGACACTCAACTTCGGGGATCCCGGAGCAGAGTGGGGTGGCGCAAGGGTGCCCGGTGGGCTCCCTATACCCGAGGAGGAAATCTGGCCCGAAAGAATCTGGCCAGAAAGAGAGACGACCCCAACTGACATCCCAGTGCTTTTCATGATAAAAGAGGATTTCAAGCGGCAAAGCGTCTGCATTTGAAGGAGTTTTTTTCCCCTGTAATTAACCGCCAGCTCCTGCCCAGCAGCCCCCTCCCAGCCACCTGTGCCCGCTCCTACCAGTCTTCGCTTGGGCTTGATGAGTGGTCGGTTCTGCCCATTCATCTTGTGGTAGAGGCCACAGGCATTGCACAGGTAGTGGCCGGTGCCGTCCCGCCGCCAGAGAGGGGTGGCTGTGGCCCCACAGTTGACACACTCCCGGCCTTCTGCAGGGGAACAGGGAGAGACACGGGGGCCTGCTTAACCGGCAAGTTCTCGGGAGGGAGTCCAGGGCAGGAAAGCAGCCAGCCGAGCAGTGCCGGTGCCTCTCAGGCACACGGTTGGCCTGGGCCTGGCTGCAACAGCCTGGGCAGGAAGAGGGACGAGAGGGTCTCCCACATGGGAGGGGGCACAGGTCCAGAGTCGTTTAAAGCCAAATCCCCTGCTTCCAATCCTCACCAGGAGGGATGGAAACGAAGGAGGAGGGGAGGAGGGGCCCAGGGCCCCAGGCGTTCTGGAGCAACCAGGAGGGTATTTACTGCAAACTTTGCCGAGGGTAGGGTGGTGGCAGGAGTCACCCAGCTCAACCTGGCTGGGCCCAGGAGGCTCTCTCCTTCCCGCTCTGGCGCGTCTCTCCCCCTCTCCTCTTTTGTCCCTCTCCTTTCTACCCAACTGTGTCTGCCCCACCCCGTCTTTCTGCTCTAAGTCCAGAAGCATTTCCCTCTTTCTCCCCAACTTTTCTCCTCTTCCACCAAAGCTCTAGAATTTTTCTGAGTCCTGGAAATAATGGATCGAAGTTGTTGTTCTTTAAAATAAAATAAATAATAAGCTCTTTCTTTTTTAGATAAGTGGCCTGGGTTTTTTTTGTTTGTATTTTTTTTTTCAATTAAAAGACCATCTGGAATTCAAATAAAATGCAAAACAAACAGGAGAAAGGACCAAGAAAAGGCAAGCTGACGGGTCTGAGCAGAACTAGGACCCTGAGCCGGGGCTCAGCGGGTGCTGGGGCCAGCGGGGGCTGGGGCTGGGGACCAAGTTGAGCAGGATCACTGGCTGGCATCGTGTTCCCCAGGAAGTTATTCTTGATTTAGTTTAAACTAAATGAGGAGTACAGCCTGGCAAGAGAAGGTGGTTCCTGCACTCAGGAGTAACTGTTTTAAAAACCTTCCCCCTCTGTGGCTCAAAGGGATTCGGGAAAGAGACATGGACAGCAAGAACTCCACACTAGCCACGAGTTTCTGGGTTTATGCTCTGTGGCCAGATTCTTGGACAAACCCAGTTTGGCCCCAGCCAGCTGCGGGAAAAGGGGCGGGGGCACTGCAGCTTCATCCCCTCACTCCAGCCCTCAGGGAGGGAGAGGGAAGGGCCTGGCGAGGGCAGGGAGCAGGAGCAGGTCCTGGGAATTTTGCTCTGGGGAAAATCTCCCGAGGAGATCAGGGAGCCATCGAAATCCCAAGATCAGACTGATTGAGTTAGAGACCCAGATTCCTTAATGGTCTGGAACCTCCGGAGTGCCTGAAACATGCACACACAACATGCACACAGACACACGTATACACATGCACACACGCTCCCAAACACATGCACATACAGAGTCACTTCCCTCGCTTCACATACTAAGTCCTGAGGTGGCTTGAATTTTCACTTAAGATTCAGGGAGGGAAAGGGGGAATTCCTGTTCTATGTTCTGGTCAGGCAGTGACCAACCCTGGGGCAAGGAACTGAACTTTGGGGGTACACTGGAAGCACTTAAGAAAATGGCAAAAGTTTTAGAGTCTCCTCTCCCTGACCCGGGGGTCTCAAACATCTGCTGGGGGCTATTAGAGCGAGACATCACCCATCCCCAGATCTGGGAAACCAACACTGCCACCTCTCCCAAGTCACAGCTCCCCACCACAAAAACGCAAATGCTCCCCTCTTCCACGAAGTCCCCAGCACCTGCCTTTACCTGAACAGGAACGAGCCTTGCTGCGCTGCTTAGGGGTGAAGCTGGAGGCCGGTCCCCCCAGGAAGCCTCCGGGGTGGAAGAGTCCGCTGCTGTAGTCGTGGGCAGCCGCCGGCACATAGGAGGGGTAGGTGGGGATGGGGTGGTGTGTAGCAGGCTGGGTGCCCATAGTAGCTAGGCCTGGGCGCAGGGGACTGCCACTTTCCATCTTCATGCTCTCCGTCAGTGACACCTGGTACTTGACGCCGT
CGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTGTGTCTCCTCTAGCACGACTCCGCTCAAAATCCATAATCCTGGGTGAGTCAGTGTCGCTGAGGCCAGCGCAGGTTTACAGAGTGCAGAGCTGCACCGTCCAACACTGTAGCAGCTGGCCACAGGCAGCCATTTAAATAAGATCTAACTACAAATTAACAAAATTAAAAACCCAGTTCCCTCAATTGCACGAGCCACATTTCAAGTGATCAATATTCACATGTGGCCAGGGGCTACCACAGTGGGCAGTGCAGACACAGAACTTTTCCATCTCTCCAGCTGATGTGAGTGCTGATCCCCCCCATCCAGCCCCCCATACCCCAACCCTTAGAGCTTTAACCACCCCGCAGCCCCTCTGAGTCCTAGTCCCTCAGGAAATGCCTGGCAGAGGTAGGGTCTGGAAATGAGCGCCTGGTCCTTGCAGAGAGAAGCTAGAGGGAGGCTTTACCCAAGAAAACAGATCCCCTCTCCCGGTTCCACCAACGCCAGCCCCACAGTGACAGAGGGGGTCCCCCAACACTTCCCAGAGAACTGCAGGCGGGAGTGCACCAGGTGGTGAGTGTGGGGGGCTGGGGGCTGAGGCCTGCAGAGCCTGGAACAGCCCCAGGCCCAAGCCTGGTCACAGAAGGGACAGAGGGACTGCAGCCGCGGGGGCAGGGAGGGGTGAGTAAGCAGCCTGAAGCTGGAATTCTGACTCAGGGGCCAACGCCGCGTCCTCCACCTCTACCCCCACCCGGGCCTCACCCCGCCCTCGCTCCAGGGGAAAAAAAGGCCCCCAAAGCAGGGAACGATTTAAGCCTCATAAATCACTTCGCCCTGAAAAAATATATTTATTATTCTTAGCATTTTACGCATTATTTGCAGAGTGGAGGGTATTAGAAATTTCAAAACAGCCCAGCGAGAGGCAGGACTGAGCTGAGGAGACTCTAAAAACTCGCAGAGTCCGGAAACAGATACACGAAGTTTCCTTATCTTCAGGCTGCAGATGTCCGGATAGGAAACTCCGGCAGGAGATCCGAAAGGGCATTTTTTTAAAATCACTCAAATGAAAATACACAGTATAGGTGACTCCATGGAAAAATAATAAAGGGCAGGTTTTTTTAGTGGCCGGTGTGAGTTTGTGTTTTATTTAAATAAGCACGAGGAGCTTGTGAGCGGGGCTGTCGGGGAGGGCTGAGCCACAAGGAAAAGTACTTCATGGCCCTATTTTTAAAAAAGAGCTAAGCAGAGGCCAGAGGACAGGAGTCCGGCCCGTGGACACTCAACTTCGGGGATCCCGGAGCAGAGTGGGGTGGCGCAAGGGTGCCCGGTGGGCTCCCTATACCCGAGGAGGAAATCTGGCCCGAAAGAATCTGGCCAGAAAGAGAGACGACCCCAACTGACATCCCAGTGCTTTTCATGATAAAAGAGGATTTCAAGCGGCAAAGCGTCTGCATTTGAAGGAGTTTTTTTCCCCTGTAATTAACCGCCAGCTCCTGCCCAGCAGCCCCCTCCCAGCCACCTGTGCCCGCTCCTACCAGTCTTCGCTTGGGCTTGATGAGTGGTCGGTTCTGCCCATTCATCTTGTGGTAGAGGCCACAGGTATTGCACAGGTAGTGGCCGGTGCCGTCCCGCCGCCAGAGAGGGGTGGCTGTGGCCCCACAGTTGACACACTCCCGGCCTTCTGCAGGGGAACAGGGAGAGACACGGGGGCCTGCTTAACCGGCAAGTTCTCGGGAGGGAGTCCAGGGCAGGAAAGCAGCCAGCCGAGCAGTGCCGGTGCCTCTCAGGCACACGGTTGGCCTGGGCCTGGCTGCAACAGCCTGGGCAGGAAGAGGGACGAGAGGGTCTCCCACATGGGAGGGGGCACAGGTCCAGAGTCGTTTAAAGCCAAATCCCCTGCTTCCAATCCTCACCAGGAGGGATGGAAACGAAGGAGGAGGGGAGGAGGGGCCCAGGGCCCCAGGCGTTCTGGAGCAACCAGGAGGGTATTTACTGCAAACTTTGCCGAGGGTAGGGTGGTGGCAGGAGTCACCCAGCTCAACCTGGCTGGGCCCAGGAGGCTCTCTCCTTCCCGCTCTGGCGCGTCTCTCCCCCTCTCCTCTTTTGTCCCTCTCCTTTCTACCCAACTGTGTCTGCCCCACCCCGTCTTTCTGCTCTAAGTCCAGAAGCATTTCCCTCTTTCTCCCCAACTTTTCTCCTCTTCCACCAAAGCTCTAGAATTTTTCTGAGTCCTGGAAATAATGGATCGAAGTTGTTGTTCTTTAAAATAAAATAAATAATAAGCTCTTTCTTTTTTAGATAAGTGGCCTGGGTTTTTTTTGTTTGTATTTTTTTTTTCAATTAAAAGACCATCTGGAATTCAAATAAAATGCAAAACAAACAGGAGAAAGGACCAAGAAAAGGCAAGCTGACGGGTCTGAGCAGAACTAGGACCCTGAGCCGGGGCTCAGCGGGTGCTGGGGCCAGCGGGGGCTGGGGCTGGGGACCAAGTTGAGCAGGATCACTGGCTGGCATCGTGTTCCCCAGGAAGTTATTCTTGATTTAGTTTAAACTAAATGAGGAGTACAGCCTGGCAAGAGAAGGTGGTTCCTGCACTCAGGAGTAACTGTTTTAAAAACCTTCCCCCTCTGTGGCTCAAAGGGATTCGGGAAAGAGACATGGACAGCAAGAACTCCACACTAGCCACGAGTTTCTGGGTTTATGCTCTGTGGCCAGATTCTTGGACAAACCCAGTTTGGCCCCAGCCAGCTGCGGGAAAAGGGGCGGGGGCACTGCAGCTTCATCCCCTCACTCCAGCCCTCAGGGAGGGAGAGGGAAGGGCCTGGCGAGGGCAGGGAGCAGGAGCAGGTCCTGGGAATTTTGCTCTGGGGAAAATCTCCCGAGGAGATCAGGGAGCCATCGAAATCCCAAGATCAGACTGATTGAGTTAGAGACCCAGATTCCTTAATGGTCTGGAACCTCCGGAGTGCCTGAAACATGCACACACAACATGCACACAGACACACGTATACACATGCACACACGCTCCCAAACACATGCACATACAGAGTCACTTCCCTCGCTTCACATACTAAGTCCTGAGGTGGCTTGAATTTTCACTTAAGATTCAGGGAGGGAAAGGGGGAATTCCTGTTCTATGTTCTGGTCAGGCAGTGACCAACCCTGGGGCAAGGAACTGAACTTTGGGGGTACACTGGAAGCACTTAAGAAAATGGCAAAAGTTTTAGAGTCTCCTCTCCCTGACCCGGGGGTCTCAAACATCTGCTGGGGGCTATTAGAGCGAGACATCACCCATCCCCAGATCTGGGAAACCAACACTGCCACCTCTCCCAAGTCACAGCTCCCCACCACAAAAACGCAAATGCTCCCCTCTTCCACGAAGTCCCCAGCACCTGCCTTTACCTGAACAGGAACGAGCCTTGCTGCGCTGCTTAGGGGTGAAGCTGGAGGCCGGTCCCCCCAGGAAGCCTCCGGGGTGGAAGAGTCCGCTGCTGTAGTCGTGGGCAGCCGCCGGCACATAGGAGGGGTAGGTGGGGATGGGGTGGTGTGTAGCAGGCTGGGTGCCCATAGTAGCTAGGCCTGGGCGCAGGGGACTGCCACTTTCCATCTTCATGCTCTCCGTCAGTGACACCTGGTACTTGACGCCGT
Task1_train_7503
A sequence alteration has been identified in RAB7A (RAB7A, member RAS oncogene family) on Chromosome 3. Is it disease-inducing or harmless?
Pathogenic; Charcot-Marie-Tooth disease type 2B
AAAATCACAGTCAGCCATAGGACTGTACTTGTTGATGTTTTGATAAATATGGCCTTTACTTTTGTAAATTCAAAGTTAAATTAATTTTGGTAACTTTCTAGGAACCCGTCAACTTGTTGACTTCTTTTTGATGTATTACTTTGCCTTCTCTGTGTATCTGAGTTCCAGATGATGAATTGGTTCCACCTAACAGTAACAGAGTTCTTATGTAATTTTGCTTGTAGGAGTCTATCTGAAAAAAGCCATTTGACATACAGAGAAAGCTCTCTATGCTAATGTTCATTGCTGAGTTGTTTATAATGATAGGAAATTGTCAGCAATATTTTCTTAAAAATAGGAATCGATGGTTCACTAAATCTGTTGGGCAGCAGTAAAGTCCAGTGAACCTGCTCTCCCATGTCACCCCATCTGCTGTTGCCAGAGTGCCCTAGTGCGTGACGGGGTAGAGGGGAGGAACTTGGGAGAATGTGGAGAGTATCACATGTGCAGTCTAGGAGTGCAGTCTAGGATTTCAGCTACAGAAAACCTCCGCGCATATGACTAGAACAAGACATGAACTCCTTCCTGTGTGGGAGGATGCCAAGTGTTCTTTTGTTTGTTTGTTTGTTTGTTTGTTTGAGAATGGGGTCACTTCTCCACTGACAGAGATGCATACATATTCCATGTAGAACATTGGAGAACCAGGAGAGCACAGGGATGAGTACCACCAGCAGTCCCGATCCTGTTTAGTCTACATGTGTGGACTTTGTTTATTGTATCTGGGCAAGGGAGCATTTAGTGCCCTAGCCTGCCGAGAGGCAGTGGAGTCATTAGAAATAAATTTGTCTTTTTTGCCCTTCATCCTTATATCTGAGTTGTTATCATGTTCGTCCGGCTCTGTTTGAGTGCCTGTTACGGATCTAGGGCAGTAAGTATACCCAGCCTTGCTCTTAAATCTAGCATGGCAGTGAATGAGGTGACCAGCTTAGAGCTGGGCGGTAGTACCTGGTTTAATCTTTACTCTGGTGTGTGTTCTCATTGTCTTTCTCTTGATCTCTTTTTGTCAAGAGTTTTTCATTTGTTTTGTTTTTTGAGGTATAATACAAATGAAATATAACATGCTAATCTTTTTTGTTGTTTAGGCAAACTTTTCTCTTTTTTTTGAGACAGAGTTTCGCTCTTATCACCCAGGCTGGAGGGCAATGGCACGATCTTGGCTCACCGCAACCTGCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGCATGCACCACCATGCCTGGCTAATTTTGTATTTATAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCCGGTGATCCACTGTGCCTGGCTAGGCAAACTTTTCATACAGTAAAATGCATAGATTGAACTATATCACTCGTGAGTCATCACCTCACTTCCCTATTGAACTGTATCATTCGTGAGTCATCACCTCACTTCCCTATATTTCCATTGCTCTCAGAAAGTTCCCAGAGTACCTAAGTTTTATTTATAGTTCAAATTTTACACACTTACCTACATGTGACCACTACTTGGATCAAGATATAAGAAATTTCTAGCACCCTGGAGATTGGACTCAATGTCACTCGCTTATAGACAGACACATACTTAATCACAATATTTGTGAGGATTGTTTCAGATACTCTGGTGCTGAAATTTGCTTCCTGAAGTCTGGTGTCATTTGTCTTTGTGGGTGGCCCCACAATCTAGCCTATTTCTTCTGGCACCCCTTGCATACATGCTCCTGGTGCTCTGCCTAGCATTCTCCCAAGGAATGAATGTTTTGTCTCTCACAGATATGGGACACAGCAGGACAGGAACGGTTCCAGTCTCTCGGTGTGGCCTTCTACAGAGGTGCAGACTGCTGCGTTCTGGTATTTGATGTGACTGCCCCCAACACATTCAAAACCCTAGATAGCTGGAGAGATGAGTTTCTCATCCAGGCCAGTCCCCGAGATCCTGAAAACTTCCCATTTGTTGTGTTGGGAAACAAGATTGACCTCGAAAACAGACAAGTAAGTACCAACGATGATAGATATTGTCACAGACACCTGCTCCCCAGGGGCCTTGTGAATTTGGAGGGTTCTCTGCTAAGCTCACATGGCTCTAGGAGGTGCTGGTGGGAGTCTTCATTACCATATGCCAGCCCTTCAGGCCAACTGCCTTTAAGGACCGGGACCCAGGTGACCTGGGTTAAGTCCCCATCCTGCCCCCAGCTGGCTGTGACTTTGGGCCATTGTCTTGGCTGTCTCAGCTTCACTTCCCTTTCTGCACTTTGAAGGAGGGAATTCGGTTTTGTCATTCTCAGTAGTGCCCTCCCAGTACCTCCAGGCCATGCCTGGATCTCCATGTGTGCAGAATATTGCTTTGGGCTTTGAGTAAAATTGCTGTACTGTAGTTTCAAATACCATTTCTGTTGGAAACATAGACTCTTTGATTAATTACAACTAGGTTTATTTCTGACCACAGATCTTTTCTTAAGTGACTTAGTCCTTATCTCTTGGCTGAAAATGGGCTAGGGGTTGGGGAAGGAATGAGAATGTGTGAGTGGCATAGGTGACATCACACTAGCAGTAATGGTGAAGGGACTATAAACCTTAAGACCAAGCTGCTGGGCATTTCCTGTCCTGGGATCTCTGAGGTCCCAGTAAACACTCTTCATTTCTTCCCGGACTGGCTTCTTACTCCATTCACAAATGGCTTTTAAGTATAACTGAGGGTCAGAAGGTATGAGCTGTAGACCGAGACAGGCTTTGAGCTCTCTAGCTGAATCCTAGCTATCCTGAGCATAGCTAGCAGGACAAGTTTGGACGGGTCTGCAGGTCTCCTCCAACACCCTCTTTCCCCATGTCTGTGTCCTCACCTGTACTACCTGTAGACGAGGGGCCATGACACTTCCTGGGGAGGATGGAGTCAGTGCTGGCTGCTTCTGTCATGAGCCTATGTGCACCCTGCTTCTTCTTTCAGGTGGCCACAAAGCGGGCACAGGCCTGGTGCTACAGCAAAAACAACATTCCCTACTTTGAGACCAGTGCCAAGGAGGCCATCAACGTGGAGCAGGCGTTCCAGACGATTGCACGGAATGCACTTAAGCAGGTGGGTCTCCCACAGCTGACCAGCCCACTCTGGTGATGCCTGACCACTGACCCAGTCCCTGCCTGGCCTCCTGCCCTTAATCTTCTTCCCTAACCCACTCTTTTCTGTATAGCCAGAATACCCTATGTGTTCATCTGGGAAGGTTATGACATGTTCTGCTTAAGCTTCCAGAAATCCCACTTTGGGGGGAATAATATAAAAGATGCAGAGGCTGTGAAGTCTGAGGCTGCCCTTCTTTTACTAGGCTTGTTCTTATTTTCTTTGCTGTGATTAGGAGATCAGGTCACTGGGAGACCCCGAACAGATTGCTGCTTCTATTTAAGGAGGAAATAAACTTGAATATGAATCCCAGCTCTGCTGCGTACCAATCGTTATATCTAGTTTGGGCTTAAAAAAAAATTATGGCCGGGCACTGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCGGGCTGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCCTCTCCACTAAAAAATACAAAAAAATTAGCCAGACCTGGTGGTGGTCGCCAGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGCGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCATCCTGGGTGACAGAGTGGGACTCTGTCTAAAAAAAATTAAAAATTAAAATAAAAAAAATTATATCTGAACTTCTACCCCCTCACCTGAAAAATGGGAATACCTGCTTTTGCAGGGTGATTATGAAGATTAAATGAGACAGACTCTTCCAGCTCTCACATACTGACTGGTAACTTTTTTCCTTAGGAACAGTTAAGTAAACAACACAAAGAAGGAAGAAGATGTAGGAAAACTATTCAAGGAATATAATACCTAGAATTTCTTATTTACTGTTTCTGTGATTAGATACAACCAC
AAAATCACAGTCAGCCATAGGACTGTACTTGTTGATGTTTTGATAAATATGGCCTTTACTTTTGTAAATTCAAAGTTAAATTAATTTTGGTAACTTTCTAGGAACCCGTCAACTTGTTGACTTCTTTTTGATGTATTACTTTGCCTTCTCTGTGTATCTGAGTTCCAGATGATGAATTGGTTCCACCTAACAGTAACAGAGTTCTTATGTAATTTTGCTTGTAGGAGTCTATCTGAAAAAAGCCATTTGACATACAGAGAAAGCTCTCTATGCTAATGTTCATTGCTGAGTTGTTTATAATGATAGGAAATTGTCAGCAATATTTTCTTAAAAATAGGAATCGATGGTTCACTAAATCTGTTGGGCAGCAGTAAAGTCCAGTGAACCTGCTCTCCCATGTCACCCCATCTGCTGTTGCCAGAGTGCCCTAGTGCGTGACGGGGTAGAGGGGAGGAACTTGGGAGAATGTGGAGAGTATCACATGTGCAGTCTAGGAGTGCAGTCTAGGATTTCAGCTACAGAAAACCTCCGCGCATATGACTAGAACAAGACATGAACTCCTTCCTGTGTGGGAGGATGCCAAGTGTTCTTTTGTTTGTTTGTTTGTTTGTTTGTTTGAGAATGGGGTCACTTCTCCACTGACAGAGATGCATACATATTCCATGTAGAACATTGGAGAACCAGGAGAGCACAGGGATGAGTACCACCAGCAGTCCCGATCCTGTTTAGTCTACATGTGTGGACTTTGTTTATTGTATCTGGGCAAGGGAGCATTTAGTGCCCTAGCCTGCCGAGAGGCAGTGGAGTCATTAGAAATAAATTTGTCTTTTTTGCCCTTCATCCTTATATCTGAGTTGTTATCATGTTCGTCCGGCTCTGTTTGAGTGCCTGTTACGGATCTAGGGCAGTAAGTATACCCAGCCTTGCTCTTAAATCTAGCATGGCAGTGAATGAGGTGACCAGCTTAGAGCTGGGCGGTAGTACCTGGTTTAATCTTTACTCTGGTGTGTGTTCTCATTGTCTTTCTCTTGATCTCTTTTTGTCAAGAGTTTTTCATTTGTTTTGTTTTTTGAGGTATAATACAAATGAAATATAACATGCTAATCTTTTTTGTTGTTTAGGCAAACTTTTCTCTTTTTTTTGAGACAGAGTTTCGCTCTTATCACCCAGGCTGGAGGGCAATGGCACGATCTTGGCTCACCGCAACCTGCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGCATGCACCACCATGCCTGGCTAATTTTGTATTTATAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCCGGTGATCCACTGTGCCTGGCTAGGCAAACTTTTCATACAGTAAAATGCATAGATTGAACTATATCACTCGTGAGTCATCACCTCACTTCCCTATTGAACTGTATCATTCGTGAGTCATCACCTCACTTCCCTATATTTCCATTGCTCTCAGAAAGTTCCCAGAGTACCTAAGTTTTATTTATAGTTCAAATTTTACACACTTACCTACATGTGACCACTACTTGGATCAAGATATAAGAAATTTCTAGCACCCTGGAGATTGGACTCAATGTCACTCGCTTATAGACAGACACATACTTAATCACAATATTTGTGAGGATTGTTTCAGATACTCTGGTGCTGAAATTTGCTTCCTGAAGTCTGGTGTCATTTGTCTTTGTGGGTGGCCCCACAATCTAGCCTATTTCTTCTGGCACCCCTTGCATACATGCTCCTGGTGCTCTGCCTAGCATTCTCCCAAGGAATGAATGTTTTGTCTCTCACAGATATGGGACACAGCAGGACAGGAACGGTTCCAGTCTCTCGGTGTGGCCTTCTACAGAGGTGCAGACTGCTGCGTTCTGGTATTTGATGTGACTGCCCCCAACACATTCAAAACCCTAGATAGCTGGAGAGATGAGTTTCTCATCCAGGCCAGTCCCCGAGATCCTGAAAACTTCCCATTTGTTGTGTTGGGAAACAAGATTGACTTCGAAAACAGACAAGTAAGTACCAACGATGATAGATATTGTCACAGACACCTGCTCCCCAGGGGCCTTGTGAATTTGGAGGGTTCTCTGCTAAGCTCACATGGCTCTAGGAGGTGCTGGTGGGAGTCTTCATTACCATATGCCAGCCCTTCAGGCCAACTGCCTTTAAGGACCGGGACCCAGGTGACCTGGGTTAAGTCCCCATCCTGCCCCCAGCTGGCTGTGACTTTGGGCCATTGTCTTGGCTGTCTCAGCTTCACTTCCCTTTCTGCACTTTGAAGGAGGGAATTCGGTTTTGTCATTCTCAGTAGTGCCCTCCCAGTACCTCCAGGCCATGCCTGGATCTCCATGTGTGCAGAATATTGCTTTGGGCTTTGAGTAAAATTGCTGTACTGTAGTTTCAAATACCATTTCTGTTGGAAACATAGACTCTTTGATTAATTACAACTAGGTTTATTTCTGACCACAGATCTTTTCTTAAGTGACTTAGTCCTTATCTCTTGGCTGAAAATGGGCTAGGGGTTGGGGAAGGAATGAGAATGTGTGAGTGGCATAGGTGACATCACACTAGCAGTAATGGTGAAGGGACTATAAACCTTAAGACCAAGCTGCTGGGCATTTCCTGTCCTGGGATCTCTGAGGTCCCAGTAAACACTCTTCATTTCTTCCCGGACTGGCTTCTTACTCCATTCACAAATGGCTTTTAAGTATAACTGAGGGTCAGAAGGTATGAGCTGTAGACCGAGACAGGCTTTGAGCTCTCTAGCTGAATCCTAGCTATCCTGAGCATAGCTAGCAGGACAAGTTTGGACGGGTCTGCAGGTCTCCTCCAACACCCTCTTTCCCCATGTCTGTGTCCTCACCTGTACTACCTGTAGACGAGGGGCCATGACACTTCCTGGGGAGGATGGAGTCAGTGCTGGCTGCTTCTGTCATGAGCCTATGTGCACCCTGCTTCTTCTTTCAGGTGGCCACAAAGCGGGCACAGGCCTGGTGCTACAGCAAAAACAACATTCCCTACTTTGAGACCAGTGCCAAGGAGGCCATCAACGTGGAGCAGGCGTTCCAGACGATTGCACGGAATGCACTTAAGCAGGTGGGTCTCCCACAGCTGACCAGCCCACTCTGGTGATGCCTGACCACTGACCCAGTCCCTGCCTGGCCTCCTGCCCTTAATCTTCTTCCCTAACCCACTCTTTTCTGTATAGCCAGAATACCCTATGTGTTCATCTGGGAAGGTTATGACATGTTCTGCTTAAGCTTCCAGAAATCCCACTTTGGGGGGAATAATATAAAAGATGCAGAGGCTGTGAAGTCTGAGGCTGCCCTTCTTTTACTAGGCTTGTTCTTATTTTCTTTGCTGTGATTAGGAGATCAGGTCACTGGGAGACCCCGAACAGATTGCTGCTTCTATTTAAGGAGGAAATAAACTTGAATATGAATCCCAGCTCTGCTGCGTACCAATCGTTATATCTAGTTTGGGCTTAAAAAAAAATTATGGCCGGGCACTGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCGGGCTGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCCTCTCCACTAAAAAATACAAAAAAATTAGCCAGACCTGGTGGTGGTCGCCAGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGCGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCATCCTGGGTGACAGAGTGGGACTCTGTCTAAAAAAAATTAAAAATTAAAATAAAAAAAATTATATCTGAACTTCTACCCCCTCACCTGAAAAATGGGAATACCTGCTTTTGCAGGGTGATTATGAAGATTAAATGAGACAGACTCTTCCAGCTCTCACATACTGACTGGTAACTTTTTTCCTTAGGAACAGTTAAGTAAACAACACAAAGAAGGAAGAAGATGTAGGAAAACTATTCAAGGAATATAATACCTAGAATTTCTTATTTACTGTTTCTGTGATTAGATACAACCAC
Task1_train_7504
This variant lies on Chromosome 3 and affects the gene RAB7A (RAB7A, member RAS oncogene family). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Charcot-Marie-Tooth disease type 2B
TTTGTCAAGAGTTTTTCATTTGTTTTGTTTTTTGAGGTATAATACAAATGAAATATAACATGCTAATCTTTTTTGTTGTTTAGGCAAACTTTTCTCTTTTTTTTGAGACAGAGTTTCGCTCTTATCACCCAGGCTGGAGGGCAATGGCACGATCTTGGCTCACCGCAACCTGCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGCATGCACCACCATGCCTGGCTAATTTTGTATTTATAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCCGGTGATCCACTGTGCCTGGCTAGGCAAACTTTTCATACAGTAAAATGCATAGATTGAACTATATCACTCGTGAGTCATCACCTCACTTCCCTATTGAACTGTATCATTCGTGAGTCATCACCTCACTTCCCTATATTTCCATTGCTCTCAGAAAGTTCCCAGAGTACCTAAGTTTTATTTATAGTTCAAATTTTACACACTTACCTACATGTGACCACTACTTGGATCAAGATATAAGAAATTTCTAGCACCCTGGAGATTGGACTCAATGTCACTCGCTTATAGACAGACACATACTTAATCACAATATTTGTGAGGATTGTTTCAGATACTCTGGTGCTGAAATTTGCTTCCTGAAGTCTGGTGTCATTTGTCTTTGTGGGTGGCCCCACAATCTAGCCTATTTCTTCTGGCACCCCTTGCATACATGCTCCTGGTGCTCTGCCTAGCATTCTCCCAAGGAATGAATGTTTTGTCTCTCACAGATATGGGACACAGCAGGACAGGAACGGTTCCAGTCTCTCGGTGTGGCCTTCTACAGAGGTGCAGACTGCTGCGTTCTGGTATTTGATGTGACTGCCCCCAACACATTCAAAACCCTAGATAGCTGGAGAGATGAGTTTCTCATCCAGGCCAGTCCCCGAGATCCTGAAAACTTCCCATTTGTTGTGTTGGGAAACAAGATTGACCTCGAAAACAGACAAGTAAGTACCAACGATGATAGATATTGTCACAGACACCTGCTCCCCAGGGGCCTTGTGAATTTGGAGGGTTCTCTGCTAAGCTCACATGGCTCTAGGAGGTGCTGGTGGGAGTCTTCATTACCATATGCCAGCCCTTCAGGCCAACTGCCTTTAAGGACCGGGACCCAGGTGACCTGGGTTAAGTCCCCATCCTGCCCCCAGCTGGCTGTGACTTTGGGCCATTGTCTTGGCTGTCTCAGCTTCACTTCCCTTTCTGCACTTTGAAGGAGGGAATTCGGTTTTGTCATTCTCAGTAGTGCCCTCCCAGTACCTCCAGGCCATGCCTGGATCTCCATGTGTGCAGAATATTGCTTTGGGCTTTGAGTAAAATTGCTGTACTGTAGTTTCAAATACCATTTCTGTTGGAAACATAGACTCTTTGATTAATTACAACTAGGTTTATTTCTGACCACAGATCTTTTCTTAAGTGACTTAGTCCTTATCTCTTGGCTGAAAATGGGCTAGGGGTTGGGGAAGGAATGAGAATGTGTGAGTGGCATAGGTGACATCACACTAGCAGTAATGGTGAAGGGACTATAAACCTTAAGACCAAGCTGCTGGGCATTTCCTGTCCTGGGATCTCTGAGGTCCCAGTAAACACTCTTCATTTCTTCCCGGACTGGCTTCTTACTCCATTCACAAATGGCTTTTAAGTATAACTGAGGGTCAGAAGGTATGAGCTGTAGACCGAGACAGGCTTTGAGCTCTCTAGCTGAATCCTAGCTATCCTGAGCATAGCTAGCAGGACAAGTTTGGACGGGTCTGCAGGTCTCCTCCAACACCCTCTTTCCCCATGTCTGTGTCCTCACCTGTACTACCTGTAGACGAGGGGCCATGACACTTCCTGGGGAGGATGGAGTCAGTGCTGGCTGCTTCTGTCATGAGCCTATGTGCACCCTGCTTCTTCTTTCAGGTGGCCACAAAGCGGGCACAGGCCTGGTGCTACAGCAAAAACAACATTCCCTACTTTGAGACCAGTGCCAAGGAGGCCATCAACGTGGAGCAGGCGTTCCAGACGATTGCACGGAATGCACTTAAGCAGGTGGGTCTCCCACAGCTGACCAGCCCACTCTGGTGATGCCTGACCACTGACCCAGTCCCTGCCTGGCCTCCTGCCCTTAATCTTCTTCCCTAACCCACTCTTTTCTGTATAGCCAGAATACCCTATGTGTTCATCTGGGAAGGTTATGACATGTTCTGCTTAAGCTTCCAGAAATCCCACTTTGGGGGGAATAATATAAAAGATGCAGAGGCTGTGAAGTCTGAGGCTGCCCTTCTTTTACTAGGCTTGTTCTTATTTTCTTTGCTGTGATTAGGAGATCAGGTCACTGGGAGACCCCGAACAGATTGCTGCTTCTATTTAAGGAGGAAATAAACTTGAATATGAATCCCAGCTCTGCTGCGTACCAATCGTTATATCTAGTTTGGGCTTAAAAAAAAATTATGGCCGGGCACTGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCGGGCTGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCCTCTCCACTAAAAAATACAAAAAAATTAGCCAGACCTGGTGGTGGTCGCCAGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGCGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCATCCTGGGTGACAGAGTGGGACTCTGTCTAAAAAAAATTAAAAATTAAAATAAAAAAAATTATATCTGAACTTCTACCCCCTCACCTGAAAAATGGGAATACCTGCTTTTGCAGGGTGATTATGAAGATTAAATGAGACAGACTCTTCCAGCTCTCACATACTGACTGGTAACTTTTTTCCTTAGGAACAGTTAAGTAAACAACACAAAGAAGGAAGAAGATGTAGGAAAACTATTCAAGGAATATAATACCTAGAATTTCTTATTTACTGTTTCTGTGATTAGATACAACCACTCATGCGAGTTGAAAGTCTGTTTTGATGTACAGCTCTGTTAGGGGCAGTGGTGATTAAGGCAGGTCACGAGGCCTCATCAGACAGTGTCTGGGGGTGGTCAGAGGTGTGGCAGGTTTGGGAGGATGCATAGAACACTTGAAGCACATGGTGGCTGTGAAGGGCAAGGCAGATTCTGCTGACTCCAGGAAGCCGGCTGAATGAAGGTAATGGCTTTCAGCAGGACAAAGAGTTGTTTGTAATGGTTGCTCCAAGGACCAGGGAAATTCTGGCATGGGTGGGGTCTGCACTAAGTGTTCCAGAATGAAAGGGACAGATCTACTCAATGAGGAAATTGTTCCACCCAGAATGCCAGGAGAGCCCTCAAGTGGTAAGGAGCAGACCAAGATGCAGACTTGGCCACGCTTACCCCCAAATAATAATGTTTGTGTTTTTCTTAATGTTCATATAAGGGAATGGAAATCCAAATATGTGTAGGAAAGTGTTTCCCACCTGTTCCCTGTTGCCTGGCATCACTGTCTGAGTTTTTCTCTTCCATCACTACTGTCCCTGTTGTCTTTATGCTTTTATTTTTAGAGCTAGCCCTTAAGAAGTTAGATTGTTAAATCGGAGGGTGTATCTTATTGTAAGTCAGGGTGCCAGGTTGCTTTCCCCAAGGGGAATAACATTTCAGCAATGTGGGCTTGCTTTCTTCTACCTCCTTGCCAGCAAGCAATAGGTGTCACCTGTCACTGCTGACATTGCCGATCTTTGGGTGTGTAAATTGCCACCATCGTGACTACTGGTCCCTCTGAGTTCCCCTCCCTGGGGCTTAGCCATTTGGATTTTCTCTGCTGCACACAGCCGGCACACAGCACATGGTTGGGCCTCTCTCAGTTCTCATGAGCTGTTGGTGAATTGAAGTTAACTCTACTTGCATCTTAAGTGACTTTTCCAACTCTGTGGTCTTTTTAAGTCCTTTGAACATAGGGAAAAAGTAATTTTTTATTTGGTTATGTCATTTTAAGTTTCTATGTTTCCTGTGTCTACCTCAGATTTTT
TTTGTCAAGAGTTTTTCATTTGTTTTGTTTTTTGAGGTATAATACAAATGAAATATAACATGCTAATCTTTTTTGTTGTTTAGGCAAACTTTTCTCTTTTTTTTGAGACAGAGTTTCGCTCTTATCACCCAGGCTGGAGGGCAATGGCACGATCTTGGCTCACCGCAACCTGCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGCATGCACCACCATGCCTGGCTAATTTTGTATTTATAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCCGGTGATCCACTGTGCCTGGCTAGGCAAACTTTTCATACAGTAAAATGCATAGATTGAACTATATCACTCGTGAGTCATCACCTCACTTCCCTATTGAACTGTATCATTCGTGAGTCATCACCTCACTTCCCTATATTTCCATTGCTCTCAGAAAGTTCCCAGAGTACCTAAGTTTTATTTATAGTTCAAATTTTACACACTTACCTACATGTGACCACTACTTGGATCAAGATATAAGAAATTTCTAGCACCCTGGAGATTGGACTCAATGTCACTCGCTTATAGACAGACACATACTTAATCACAATATTTGTGAGGATTGTTTCAGATACTCTGGTGCTGAAATTTGCTTCCTGAAGTCTGGTGTCATTTGTCTTTGTGGGTGGCCCCACAATCTAGCCTATTTCTTCTGGCACCCCTTGCATACATGCTCCTGGTGCTCTGCCTAGCATTCTCCCAAGGAATGAATGTTTTGTCTCTCACAGATATGGGACACAGCAGGACAGGAACGGTTCCAGTCTCTCGGTGTGGCCTTCTACAGAGGTGCAGACTGCTGCGTTCTGGTATTTGATGTGACTGCCCCCAACACATTCAAAACCCTAGATAGCTGGAGAGATGAGTTTCTCATCCAGGCCAGTCCCCGAGATCCTGAAAACTTCCCATTTGTTGTGTTGGGAAACAAGATTGACCTCGAAAACAGACAAGTAAGTACCAACGATGATAGATATTGTCACAGACACCTGCTCCCCAGGGGCCTTGTGAATTTGGAGGGTTCTCTGCTAAGCTCACATGGCTCTAGGAGGTGCTGGTGGGAGTCTTCATTACCATATGCCAGCCCTTCAGGCCAACTGCCTTTAAGGACCGGGACCCAGGTGACCTGGGTTAAGTCCCCATCCTGCCCCCAGCTGGCTGTGACTTTGGGCCATTGTCTTGGCTGTCTCAGCTTCACTTCCCTTTCTGCACTTTGAAGGAGGGAATTCGGTTTTGTCATTCTCAGTAGTGCCCTCCCAGTACCTCCAGGCCATGCCTGGATCTCCATGTGTGCAGAATATTGCTTTGGGCTTTGAGTAAAATTGCTGTACTGTAGTTTCAAATACCATTTCTGTTGGAAACATAGACTCTTTGATTAATTACAACTAGGTTTATTTCTGACCACAGATCTTTTCTTAAGTGACTTAGTCCTTATCTCTTGGCTGAAAATGGGCTAGGGGTTGGGGAAGGAATGAGAATGTGTGAGTGGCATAGGTGACATCACACTAGCAGTAATGGTGAAGGGACTATAAACCTTAAGACCAAGCTGCTGGGCATTTCCTGTCCTGGGATCTCTGAGGTCCCAGTAAACACTCTTCATTTCTTCCCGGACTGGCTTCTTACTCCATTCACAAATGGCTTTTAAGTATAACTGAGGGTCAGAAGGTATGAGCTGTAGACCGAGACAGGCTTTGAGCTCTCTAGCTGAATCCTAGCTATCCTGAGCATAGCTAGCAGGACAAGTTTGGACGGGTCTGCAGGTCTCCTCCAACACCCTCTTTCCCCATGTCTGTGTCCTCACCTGTACTACCTGTAGACGAGGGGCCATGACACTTCCTGGGGAGGATGGAGTCAGTGCTGGCTGCTTCTGTCATGAGCCTATGTGCACCCTGCTTCTTCTTTCAGGTGGCCACAAAGCGGGCACAGGCCTGGTGCTACAGCAAAAACAACATTCCCTACTTTGAGACCAGTGCCAATGAGGCCATCAACGTGGAGCAGGCGTTCCAGACGATTGCACGGAATGCACTTAAGCAGGTGGGTCTCCCACAGCTGACCAGCCCACTCTGGTGATGCCTGACCACTGACCCAGTCCCTGCCTGGCCTCCTGCCCTTAATCTTCTTCCCTAACCCACTCTTTTCTGTATAGCCAGAATACCCTATGTGTTCATCTGGGAAGGTTATGACATGTTCTGCTTAAGCTTCCAGAAATCCCACTTTGGGGGGAATAATATAAAAGATGCAGAGGCTGTGAAGTCTGAGGCTGCCCTTCTTTTACTAGGCTTGTTCTTATTTTCTTTGCTGTGATTAGGAGATCAGGTCACTGGGAGACCCCGAACAGATTGCTGCTTCTATTTAAGGAGGAAATAAACTTGAATATGAATCCCAGCTCTGCTGCGTACCAATCGTTATATCTAGTTTGGGCTTAAAAAAAAATTATGGCCGGGCACTGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCGGGCTGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCCTCTCCACTAAAAAATACAAAAAAATTAGCCAGACCTGGTGGTGGTCGCCAGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGCGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCATCCTGGGTGACAGAGTGGGACTCTGTCTAAAAAAAATTAAAAATTAAAATAAAAAAAATTATATCTGAACTTCTACCCCCTCACCTGAAAAATGGGAATACCTGCTTTTGCAGGGTGATTATGAAGATTAAATGAGACAGACTCTTCCAGCTCTCACATACTGACTGGTAACTTTTTTCCTTAGGAACAGTTAAGTAAACAACACAAAGAAGGAAGAAGATGTAGGAAAACTATTCAAGGAATATAATACCTAGAATTTCTTATTTACTGTTTCTGTGATTAGATACAACCACTCATGCGAGTTGAAAGTCTGTTTTGATGTACAGCTCTGTTAGGGGCAGTGGTGATTAAGGCAGGTCACGAGGCCTCATCAGACAGTGTCTGGGGGTGGTCAGAGGTGTGGCAGGTTTGGGAGGATGCATAGAACACTTGAAGCACATGGTGGCTGTGAAGGGCAAGGCAGATTCTGCTGACTCCAGGAAGCCGGCTGAATGAAGGTAATGGCTTTCAGCAGGACAAAGAGTTGTTTGTAATGGTTGCTCCAAGGACCAGGGAAATTCTGGCATGGGTGGGGTCTGCACTAAGTGTTCCAGAATGAAAGGGACAGATCTACTCAATGAGGAAATTGTTCCACCCAGAATGCCAGGAGAGCCCTCAAGTGGTAAGGAGCAGACCAAGATGCAGACTTGGCCACGCTTACCCCCAAATAATAATGTTTGTGTTTTTCTTAATGTTCATATAAGGGAATGGAAATCCAAATATGTGTAGGAAAGTGTTTCCCACCTGTTCCCTGTTGCCTGGCATCACTGTCTGAGTTTTTCTCTTCCATCACTACTGTCCCTGTTGTCTTTATGCTTTTATTTTTAGAGCTAGCCCTTAAGAAGTTAGATTGTTAAATCGGAGGGTGTATCTTATTGTAAGTCAGGGTGCCAGGTTGCTTTCCCCAAGGGGAATAACATTTCAGCAATGTGGGCTTGCTTTCTTCTACCTCCTTGCCAGCAAGCAATAGGTGTCACCTGTCACTGCTGACATTGCCGATCTTTGGGTGTGTAAATTGCCACCATCGTGACTACTGGTCCCTCTGAGTTCCCCTCCCTGGGGCTTAGCCATTTGGATTTTCTCTGCTGCACACAGCCGGCACACAGCACATGGTTGGGCCTCTCTCAGTTCTCATGAGCTGTTGGTGAATTGAAGTTAACTCTACTTGCATCTTAAGTGACTTTTCCAACTCTGTGGTCTTTTTAAGTCCTTTGAACATAGGGAAAAAGTAATTTTTTATTTGGTTATGTCATTTTAAGTTTCTATGTTTCCTGTGTCTACCTCAGATTTTT
Task1_train_7505
A mutation in RAB7A (RAB7A, member RAS oncogene family), located on Chromosome 3, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Charcot-Marie-Tooth disease type 2B
TTTTTCATTTGTTTTGTTTTTTGAGGTATAATACAAATGAAATATAACATGCTAATCTTTTTTGTTGTTTAGGCAAACTTTTCTCTTTTTTTTGAGACAGAGTTTCGCTCTTATCACCCAGGCTGGAGGGCAATGGCACGATCTTGGCTCACCGCAACCTGCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGCATGCACCACCATGCCTGGCTAATTTTGTATTTATAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCCGGTGATCCACTGTGCCTGGCTAGGCAAACTTTTCATACAGTAAAATGCATAGATTGAACTATATCACTCGTGAGTCATCACCTCACTTCCCTATTGAACTGTATCATTCGTGAGTCATCACCTCACTTCCCTATATTTCCATTGCTCTCAGAAAGTTCCCAGAGTACCTAAGTTTTATTTATAGTTCAAATTTTACACACTTACCTACATGTGACCACTACTTGGATCAAGATATAAGAAATTTCTAGCACCCTGGAGATTGGACTCAATGTCACTCGCTTATAGACAGACACATACTTAATCACAATATTTGTGAGGATTGTTTCAGATACTCTGGTGCTGAAATTTGCTTCCTGAAGTCTGGTGTCATTTGTCTTTGTGGGTGGCCCCACAATCTAGCCTATTTCTTCTGGCACCCCTTGCATACATGCTCCTGGTGCTCTGCCTAGCATTCTCCCAAGGAATGAATGTTTTGTCTCTCACAGATATGGGACACAGCAGGACAGGAACGGTTCCAGTCTCTCGGTGTGGCCTTCTACAGAGGTGCAGACTGCTGCGTTCTGGTATTTGATGTGACTGCCCCCAACACATTCAAAACCCTAGATAGCTGGAGAGATGAGTTTCTCATCCAGGCCAGTCCCCGAGATCCTGAAAACTTCCCATTTGTTGTGTTGGGAAACAAGATTGACCTCGAAAACAGACAAGTAAGTACCAACGATGATAGATATTGTCACAGACACCTGCTCCCCAGGGGCCTTGTGAATTTGGAGGGTTCTCTGCTAAGCTCACATGGCTCTAGGAGGTGCTGGTGGGAGTCTTCATTACCATATGCCAGCCCTTCAGGCCAACTGCCTTTAAGGACCGGGACCCAGGTGACCTGGGTTAAGTCCCCATCCTGCCCCCAGCTGGCTGTGACTTTGGGCCATTGTCTTGGCTGTCTCAGCTTCACTTCCCTTTCTGCACTTTGAAGGAGGGAATTCGGTTTTGTCATTCTCAGTAGTGCCCTCCCAGTACCTCCAGGCCATGCCTGGATCTCCATGTGTGCAGAATATTGCTTTGGGCTTTGAGTAAAATTGCTGTACTGTAGTTTCAAATACCATTTCTGTTGGAAACATAGACTCTTTGATTAATTACAACTAGGTTTATTTCTGACCACAGATCTTTTCTTAAGTGACTTAGTCCTTATCTCTTGGCTGAAAATGGGCTAGGGGTTGGGGAAGGAATGAGAATGTGTGAGTGGCATAGGTGACATCACACTAGCAGTAATGGTGAAGGGACTATAAACCTTAAGACCAAGCTGCTGGGCATTTCCTGTCCTGGGATCTCTGAGGTCCCAGTAAACACTCTTCATTTCTTCCCGGACTGGCTTCTTACTCCATTCACAAATGGCTTTTAAGTATAACTGAGGGTCAGAAGGTATGAGCTGTAGACCGAGACAGGCTTTGAGCTCTCTAGCTGAATCCTAGCTATCCTGAGCATAGCTAGCAGGACAAGTTTGGACGGGTCTGCAGGTCTCCTCCAACACCCTCTTTCCCCATGTCTGTGTCCTCACCTGTACTACCTGTAGACGAGGGGCCATGACACTTCCTGGGGAGGATGGAGTCAGTGCTGGCTGCTTCTGTCATGAGCCTATGTGCACCCTGCTTCTTCTTTCAGGTGGCCACAAAGCGGGCACAGGCCTGGTGCTACAGCAAAAACAACATTCCCTACTTTGAGACCAGTGCCAAGGAGGCCATCAACGTGGAGCAGGCGTTCCAGACGATTGCACGGAATGCACTTAAGCAGGTGGGTCTCCCACAGCTGACCAGCCCACTCTGGTGATGCCTGACCACTGACCCAGTCCCTGCCTGGCCTCCTGCCCTTAATCTTCTTCCCTAACCCACTCTTTTCTGTATAGCCAGAATACCCTATGTGTTCATCTGGGAAGGTTATGACATGTTCTGCTTAAGCTTCCAGAAATCCCACTTTGGGGGGAATAATATAAAAGATGCAGAGGCTGTGAAGTCTGAGGCTGCCCTTCTTTTACTAGGCTTGTTCTTATTTTCTTTGCTGTGATTAGGAGATCAGGTCACTGGGAGACCCCGAACAGATTGCTGCTTCTATTTAAGGAGGAAATAAACTTGAATATGAATCCCAGCTCTGCTGCGTACCAATCGTTATATCTAGTTTGGGCTTAAAAAAAAATTATGGCCGGGCACTGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCGGGCTGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCCTCTCCACTAAAAAATACAAAAAAATTAGCCAGACCTGGTGGTGGTCGCCAGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGCGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCATCCTGGGTGACAGAGTGGGACTCTGTCTAAAAAAAATTAAAAATTAAAATAAAAAAAATTATATCTGAACTTCTACCCCCTCACCTGAAAAATGGGAATACCTGCTTTTGCAGGGTGATTATGAAGATTAAATGAGACAGACTCTTCCAGCTCTCACATACTGACTGGTAACTTTTTTCCTTAGGAACAGTTAAGTAAACAACACAAAGAAGGAAGAAGATGTAGGAAAACTATTCAAGGAATATAATACCTAGAATTTCTTATTTACTGTTTCTGTGATTAGATACAACCACTCATGCGAGTTGAAAGTCTGTTTTGATGTACAGCTCTGTTAGGGGCAGTGGTGATTAAGGCAGGTCACGAGGCCTCATCAGACAGTGTCTGGGGGTGGTCAGAGGTGTGGCAGGTTTGGGAGGATGCATAGAACACTTGAAGCACATGGTGGCTGTGAAGGGCAAGGCAGATTCTGCTGACTCCAGGAAGCCGGCTGAATGAAGGTAATGGCTTTCAGCAGGACAAAGAGTTGTTTGTAATGGTTGCTCCAAGGACCAGGGAAATTCTGGCATGGGTGGGGTCTGCACTAAGTGTTCCAGAATGAAAGGGACAGATCTACTCAATGAGGAAATTGTTCCACCCAGAATGCCAGGAGAGCCCTCAAGTGGTAAGGAGCAGACCAAGATGCAGACTTGGCCACGCTTACCCCCAAATAATAATGTTTGTGTTTTTCTTAATGTTCATATAAGGGAATGGAAATCCAAATATGTGTAGGAAAGTGTTTCCCACCTGTTCCCTGTTGCCTGGCATCACTGTCTGAGTTTTTCTCTTCCATCACTACTGTCCCTGTTGTCTTTATGCTTTTATTTTTAGAGCTAGCCCTTAAGAAGTTAGATTGTTAAATCGGAGGGTGTATCTTATTGTAAGTCAGGGTGCCAGGTTGCTTTCCCCAAGGGGAATAACATTTCAGCAATGTGGGCTTGCTTTCTTCTACCTCCTTGCCAGCAAGCAATAGGTGTCACCTGTCACTGCTGACATTGCCGATCTTTGGGTGTGTAAATTGCCACCATCGTGACTACTGGTCCCTCTGAGTTCCCCTCCCTGGGGCTTAGCCATTTGGATTTTCTCTGCTGCACACAGCCGGCACACAGCACATGGTTGGGCCTCTCTCAGTTCTCATGAGCTGTTGGTGAATTGAAGTTAACTCTACTTGCATCTTAAGTGACTTTTCCAACTCTGTGGTCTTTTTAAGTCCTTTGAACATAGGGAAAAAGTAATTTTTTATTTGGTTATGTCATTTTAAGTTTCTATGTTTCCTGTGTCTACCTCAGATTTTTCTGTAATTCAG
TTTTTCATTTGTTTTGTTTTTTGAGGTATAATACAAATGAAATATAACATGCTAATCTTTTTTGTTGTTTAGGCAAACTTTTCTCTTTTTTTTGAGACAGAGTTTCGCTCTTATCACCCAGGCTGGAGGGCAATGGCACGATCTTGGCTCACCGCAACCTGCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGCATGCACCACCATGCCTGGCTAATTTTGTATTTATAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCCGGTGATCCACTGTGCCTGGCTAGGCAAACTTTTCATACAGTAAAATGCATAGATTGAACTATATCACTCGTGAGTCATCACCTCACTTCCCTATTGAACTGTATCATTCGTGAGTCATCACCTCACTTCCCTATATTTCCATTGCTCTCAGAAAGTTCCCAGAGTACCTAAGTTTTATTTATAGTTCAAATTTTACACACTTACCTACATGTGACCACTACTTGGATCAAGATATAAGAAATTTCTAGCACCCTGGAGATTGGACTCAATGTCACTCGCTTATAGACAGACACATACTTAATCACAATATTTGTGAGGATTGTTTCAGATACTCTGGTGCTGAAATTTGCTTCCTGAAGTCTGGTGTCATTTGTCTTTGTGGGTGGCCCCACAATCTAGCCTATTTCTTCTGGCACCCCTTGCATACATGCTCCTGGTGCTCTGCCTAGCATTCTCCCAAGGAATGAATGTTTTGTCTCTCACAGATATGGGACACAGCAGGACAGGAACGGTTCCAGTCTCTCGGTGTGGCCTTCTACAGAGGTGCAGACTGCTGCGTTCTGGTATTTGATGTGACTGCCCCCAACACATTCAAAACCCTAGATAGCTGGAGAGATGAGTTTCTCATCCAGGCCAGTCCCCGAGATCCTGAAAACTTCCCATTTGTTGTGTTGGGAAACAAGATTGACCTCGAAAACAGACAAGTAAGTACCAACGATGATAGATATTGTCACAGACACCTGCTCCCCAGGGGCCTTGTGAATTTGGAGGGTTCTCTGCTAAGCTCACATGGCTCTAGGAGGTGCTGGTGGGAGTCTTCATTACCATATGCCAGCCCTTCAGGCCAACTGCCTTTAAGGACCGGGACCCAGGTGACCTGGGTTAAGTCCCCATCCTGCCCCCAGCTGGCTGTGACTTTGGGCCATTGTCTTGGCTGTCTCAGCTTCACTTCCCTTTCTGCACTTTGAAGGAGGGAATTCGGTTTTGTCATTCTCAGTAGTGCCCTCCCAGTACCTCCAGGCCATGCCTGGATCTCCATGTGTGCAGAATATTGCTTTGGGCTTTGAGTAAAATTGCTGTACTGTAGTTTCAAATACCATTTCTGTTGGAAACATAGACTCTTTGATTAATTACAACTAGGTTTATTTCTGACCACAGATCTTTTCTTAAGTGACTTAGTCCTTATCTCTTGGCTGAAAATGGGCTAGGGGTTGGGGAAGGAATGAGAATGTGTGAGTGGCATAGGTGACATCACACTAGCAGTAATGGTGAAGGGACTATAAACCTTAAGACCAAGCTGCTGGGCATTTCCTGTCCTGGGATCTCTGAGGTCCCAGTAAACACTCTTCATTTCTTCCCGGACTGGCTTCTTACTCCATTCACAAATGGCTTTTAAGTATAACTGAGGGTCAGAAGGTATGAGCTGTAGACCGAGACAGGCTTTGAGCTCTCTAGCTGAATCCTAGCTATCCTGAGCATAGCTAGCAGGACAAGTTTGGACGGGTCTGCAGGTCTCCTCCAACACCCTCTTTCCCCATGTCTGTGTCCTCACCTGTACTACCTGTAGACGAGGGGCCATGACACTTCCTGGGGAGGATGGAGTCAGTGCTGGCTGCTTCTGTCATGAGCCTATGTGCACCCTGCTTCTTCTTTCAGGTGGCCACAAAGCGGGCACAGGCCTGGTGCTACAGCAAAAACAACATTCCCTACTTTGAGACCAGTGCCAAGGAGGCCATCATCGTGGAGCAGGCGTTCCAGACGATTGCACGGAATGCACTTAAGCAGGTGGGTCTCCCACAGCTGACCAGCCCACTCTGGTGATGCCTGACCACTGACCCAGTCCCTGCCTGGCCTCCTGCCCTTAATCTTCTTCCCTAACCCACTCTTTTCTGTATAGCCAGAATACCCTATGTGTTCATCTGGGAAGGTTATGACATGTTCTGCTTAAGCTTCCAGAAATCCCACTTTGGGGGGAATAATATAAAAGATGCAGAGGCTGTGAAGTCTGAGGCTGCCCTTCTTTTACTAGGCTTGTTCTTATTTTCTTTGCTGTGATTAGGAGATCAGGTCACTGGGAGACCCCGAACAGATTGCTGCTTCTATTTAAGGAGGAAATAAACTTGAATATGAATCCCAGCTCTGCTGCGTACCAATCGTTATATCTAGTTTGGGCTTAAAAAAAAATTATGGCCGGGCACTGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCGGGCTGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCCTCTCCACTAAAAAATACAAAAAAATTAGCCAGACCTGGTGGTGGTCGCCAGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGCGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCATCCTGGGTGACAGAGTGGGACTCTGTCTAAAAAAAATTAAAAATTAAAATAAAAAAAATTATATCTGAACTTCTACCCCCTCACCTGAAAAATGGGAATACCTGCTTTTGCAGGGTGATTATGAAGATTAAATGAGACAGACTCTTCCAGCTCTCACATACTGACTGGTAACTTTTTTCCTTAGGAACAGTTAAGTAAACAACACAAAGAAGGAAGAAGATGTAGGAAAACTATTCAAGGAATATAATACCTAGAATTTCTTATTTACTGTTTCTGTGATTAGATACAACCACTCATGCGAGTTGAAAGTCTGTTTTGATGTACAGCTCTGTTAGGGGCAGTGGTGATTAAGGCAGGTCACGAGGCCTCATCAGACAGTGTCTGGGGGTGGTCAGAGGTGTGGCAGGTTTGGGAGGATGCATAGAACACTTGAAGCACATGGTGGCTGTGAAGGGCAAGGCAGATTCTGCTGACTCCAGGAAGCCGGCTGAATGAAGGTAATGGCTTTCAGCAGGACAAAGAGTTGTTTGTAATGGTTGCTCCAAGGACCAGGGAAATTCTGGCATGGGTGGGGTCTGCACTAAGTGTTCCAGAATGAAAGGGACAGATCTACTCAATGAGGAAATTGTTCCACCCAGAATGCCAGGAGAGCCCTCAAGTGGTAAGGAGCAGACCAAGATGCAGACTTGGCCACGCTTACCCCCAAATAATAATGTTTGTGTTTTTCTTAATGTTCATATAAGGGAATGGAAATCCAAATATGTGTAGGAAAGTGTTTCCCACCTGTTCCCTGTTGCCTGGCATCACTGTCTGAGTTTTTCTCTTCCATCACTACTGTCCCTGTTGTCTTTATGCTTTTATTTTTAGAGCTAGCCCTTAAGAAGTTAGATTGTTAAATCGGAGGGTGTATCTTATTGTAAGTCAGGGTGCCAGGTTGCTTTCCCCAAGGGGAATAACATTTCAGCAATGTGGGCTTGCTTTCTTCTACCTCCTTGCCAGCAAGCAATAGGTGTCACCTGTCACTGCTGACATTGCCGATCTTTGGGTGTGTAAATTGCCACCATCGTGACTACTGGTCCCTCTGAGTTCCCCTCCCTGGGGCTTAGCCATTTGGATTTTCTCTGCTGCACACAGCCGGCACACAGCACATGGTTGGGCCTCTCTCAGTTCTCATGAGCTGTTGGTGAATTGAAGTTAACTCTACTTGCATCTTAAGTGACTTTTCCAACTCTGTGGTCTTTTTAAGTCCTTTGAACATAGGGAAAAAGTAATTTTTTATTTGGTTATGTCATTTTAAGTTTCTATGTTTCCTGTGTCTACCTCAGATTTTTCTGTAATTCAG
Task1_train_7506
This variant lies on Chromosome 3 and affects the gene RAB7A (RAB7A, member RAS oncogene family). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Charcot-Marie-Tooth disease type 2B
TTTCATTTGTTTTGTTTTTTGAGGTATAATACAAATGAAATATAACATGCTAATCTTTTTTGTTGTTTAGGCAAACTTTTCTCTTTTTTTTGAGACAGAGTTTCGCTCTTATCACCCAGGCTGGAGGGCAATGGCACGATCTTGGCTCACCGCAACCTGCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGCATGCACCACCATGCCTGGCTAATTTTGTATTTATAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCCGGTGATCCACTGTGCCTGGCTAGGCAAACTTTTCATACAGTAAAATGCATAGATTGAACTATATCACTCGTGAGTCATCACCTCACTTCCCTATTGAACTGTATCATTCGTGAGTCATCACCTCACTTCCCTATATTTCCATTGCTCTCAGAAAGTTCCCAGAGTACCTAAGTTTTATTTATAGTTCAAATTTTACACACTTACCTACATGTGACCACTACTTGGATCAAGATATAAGAAATTTCTAGCACCCTGGAGATTGGACTCAATGTCACTCGCTTATAGACAGACACATACTTAATCACAATATTTGTGAGGATTGTTTCAGATACTCTGGTGCTGAAATTTGCTTCCTGAAGTCTGGTGTCATTTGTCTTTGTGGGTGGCCCCACAATCTAGCCTATTTCTTCTGGCACCCCTTGCATACATGCTCCTGGTGCTCTGCCTAGCATTCTCCCAAGGAATGAATGTTTTGTCTCTCACAGATATGGGACACAGCAGGACAGGAACGGTTCCAGTCTCTCGGTGTGGCCTTCTACAGAGGTGCAGACTGCTGCGTTCTGGTATTTGATGTGACTGCCCCCAACACATTCAAAACCCTAGATAGCTGGAGAGATGAGTTTCTCATCCAGGCCAGTCCCCGAGATCCTGAAAACTTCCCATTTGTTGTGTTGGGAAACAAGATTGACCTCGAAAACAGACAAGTAAGTACCAACGATGATAGATATTGTCACAGACACCTGCTCCCCAGGGGCCTTGTGAATTTGGAGGGTTCTCTGCTAAGCTCACATGGCTCTAGGAGGTGCTGGTGGGAGTCTTCATTACCATATGCCAGCCCTTCAGGCCAACTGCCTTTAAGGACCGGGACCCAGGTGACCTGGGTTAAGTCCCCATCCTGCCCCCAGCTGGCTGTGACTTTGGGCCATTGTCTTGGCTGTCTCAGCTTCACTTCCCTTTCTGCACTTTGAAGGAGGGAATTCGGTTTTGTCATTCTCAGTAGTGCCCTCCCAGTACCTCCAGGCCATGCCTGGATCTCCATGTGTGCAGAATATTGCTTTGGGCTTTGAGTAAAATTGCTGTACTGTAGTTTCAAATACCATTTCTGTTGGAAACATAGACTCTTTGATTAATTACAACTAGGTTTATTTCTGACCACAGATCTTTTCTTAAGTGACTTAGTCCTTATCTCTTGGCTGAAAATGGGCTAGGGGTTGGGGAAGGAATGAGAATGTGTGAGTGGCATAGGTGACATCACACTAGCAGTAATGGTGAAGGGACTATAAACCTTAAGACCAAGCTGCTGGGCATTTCCTGTCCTGGGATCTCTGAGGTCCCAGTAAACACTCTTCATTTCTTCCCGGACTGGCTTCTTACTCCATTCACAAATGGCTTTTAAGTATAACTGAGGGTCAGAAGGTATGAGCTGTAGACCGAGACAGGCTTTGAGCTCTCTAGCTGAATCCTAGCTATCCTGAGCATAGCTAGCAGGACAAGTTTGGACGGGTCTGCAGGTCTCCTCCAACACCCTCTTTCCCCATGTCTGTGTCCTCACCTGTACTACCTGTAGACGAGGGGCCATGACACTTCCTGGGGAGGATGGAGTCAGTGCTGGCTGCTTCTGTCATGAGCCTATGTGCACCCTGCTTCTTCTTTCAGGTGGCCACAAAGCGGGCACAGGCCTGGTGCTACAGCAAAAACAACATTCCCTACTTTGAGACCAGTGCCAAGGAGGCCATCAACGTGGAGCAGGCGTTCCAGACGATTGCACGGAATGCACTTAAGCAGGTGGGTCTCCCACAGCTGACCAGCCCACTCTGGTGATGCCTGACCACTGACCCAGTCCCTGCCTGGCCTCCTGCCCTTAATCTTCTTCCCTAACCCACTCTTTTCTGTATAGCCAGAATACCCTATGTGTTCATCTGGGAAGGTTATGACATGTTCTGCTTAAGCTTCCAGAAATCCCACTTTGGGGGGAATAATATAAAAGATGCAGAGGCTGTGAAGTCTGAGGCTGCCCTTCTTTTACTAGGCTTGTTCTTATTTTCTTTGCTGTGATTAGGAGATCAGGTCACTGGGAGACCCCGAACAGATTGCTGCTTCTATTTAAGGAGGAAATAAACTTGAATATGAATCCCAGCTCTGCTGCGTACCAATCGTTATATCTAGTTTGGGCTTAAAAAAAAATTATGGCCGGGCACTGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCGGGCTGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCCTCTCCACTAAAAAATACAAAAAAATTAGCCAGACCTGGTGGTGGTCGCCAGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGCGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCATCCTGGGTGACAGAGTGGGACTCTGTCTAAAAAAAATTAAAAATTAAAATAAAAAAAATTATATCTGAACTTCTACCCCCTCACCTGAAAAATGGGAATACCTGCTTTTGCAGGGTGATTATGAAGATTAAATGAGACAGACTCTTCCAGCTCTCACATACTGACTGGTAACTTTTTTCCTTAGGAACAGTTAAGTAAACAACACAAAGAAGGAAGAAGATGTAGGAAAACTATTCAAGGAATATAATACCTAGAATTTCTTATTTACTGTTTCTGTGATTAGATACAACCACTCATGCGAGTTGAAAGTCTGTTTTGATGTACAGCTCTGTTAGGGGCAGTGGTGATTAAGGCAGGTCACGAGGCCTCATCAGACAGTGTCTGGGGGTGGTCAGAGGTGTGGCAGGTTTGGGAGGATGCATAGAACACTTGAAGCACATGGTGGCTGTGAAGGGCAAGGCAGATTCTGCTGACTCCAGGAAGCCGGCTGAATGAAGGTAATGGCTTTCAGCAGGACAAAGAGTTGTTTGTAATGGTTGCTCCAAGGACCAGGGAAATTCTGGCATGGGTGGGGTCTGCACTAAGTGTTCCAGAATGAAAGGGACAGATCTACTCAATGAGGAAATTGTTCCACCCAGAATGCCAGGAGAGCCCTCAAGTGGTAAGGAGCAGACCAAGATGCAGACTTGGCCACGCTTACCCCCAAATAATAATGTTTGTGTTTTTCTTAATGTTCATATAAGGGAATGGAAATCCAAATATGTGTAGGAAAGTGTTTCCCACCTGTTCCCTGTTGCCTGGCATCACTGTCTGAGTTTTTCTCTTCCATCACTACTGTCCCTGTTGTCTTTATGCTTTTATTTTTAGAGCTAGCCCTTAAGAAGTTAGATTGTTAAATCGGAGGGTGTATCTTATTGTAAGTCAGGGTGCCAGGTTGCTTTCCCCAAGGGGAATAACATTTCAGCAATGTGGGCTTGCTTTCTTCTACCTCCTTGCCAGCAAGCAATAGGTGTCACCTGTCACTGCTGACATTGCCGATCTTTGGGTGTGTAAATTGCCACCATCGTGACTACTGGTCCCTCTGAGTTCCCCTCCCTGGGGCTTAGCCATTTGGATTTTCTCTGCTGCACACAGCCGGCACACAGCACATGGTTGGGCCTCTCTCAGTTCTCATGAGCTGTTGGTGAATTGAAGTTAACTCTACTTGCATCTTAAGTGACTTTTCCAACTCTGTGGTCTTTTTAAGTCCTTTGAACATAGGGAAAAAGTAATTTTTTATTTGGTTATGTCATTTTAAGTTTCTATGTTTCCTGTGTCTACCTCAGATTTTTCTGTAATTCAGCT
TTTCATTTGTTTTGTTTTTTGAGGTATAATACAAATGAAATATAACATGCTAATCTTTTTTGTTGTTTAGGCAAACTTTTCTCTTTTTTTTGAGACAGAGTTTCGCTCTTATCACCCAGGCTGGAGGGCAATGGCACGATCTTGGCTCACCGCAACCTGCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGCATGCACCACCATGCCTGGCTAATTTTGTATTTATAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCCGGTGATCCACTGTGCCTGGCTAGGCAAACTTTTCATACAGTAAAATGCATAGATTGAACTATATCACTCGTGAGTCATCACCTCACTTCCCTATTGAACTGTATCATTCGTGAGTCATCACCTCACTTCCCTATATTTCCATTGCTCTCAGAAAGTTCCCAGAGTACCTAAGTTTTATTTATAGTTCAAATTTTACACACTTACCTACATGTGACCACTACTTGGATCAAGATATAAGAAATTTCTAGCACCCTGGAGATTGGACTCAATGTCACTCGCTTATAGACAGACACATACTTAATCACAATATTTGTGAGGATTGTTTCAGATACTCTGGTGCTGAAATTTGCTTCCTGAAGTCTGGTGTCATTTGTCTTTGTGGGTGGCCCCACAATCTAGCCTATTTCTTCTGGCACCCCTTGCATACATGCTCCTGGTGCTCTGCCTAGCATTCTCCCAAGGAATGAATGTTTTGTCTCTCACAGATATGGGACACAGCAGGACAGGAACGGTTCCAGTCTCTCGGTGTGGCCTTCTACAGAGGTGCAGACTGCTGCGTTCTGGTATTTGATGTGACTGCCCCCAACACATTCAAAACCCTAGATAGCTGGAGAGATGAGTTTCTCATCCAGGCCAGTCCCCGAGATCCTGAAAACTTCCCATTTGTTGTGTTGGGAAACAAGATTGACCTCGAAAACAGACAAGTAAGTACCAACGATGATAGATATTGTCACAGACACCTGCTCCCCAGGGGCCTTGTGAATTTGGAGGGTTCTCTGCTAAGCTCACATGGCTCTAGGAGGTGCTGGTGGGAGTCTTCATTACCATATGCCAGCCCTTCAGGCCAACTGCCTTTAAGGACCGGGACCCAGGTGACCTGGGTTAAGTCCCCATCCTGCCCCCAGCTGGCTGTGACTTTGGGCCATTGTCTTGGCTGTCTCAGCTTCACTTCCCTTTCTGCACTTTGAAGGAGGGAATTCGGTTTTGTCATTCTCAGTAGTGCCCTCCCAGTACCTCCAGGCCATGCCTGGATCTCCATGTGTGCAGAATATTGCTTTGGGCTTTGAGTAAAATTGCTGTACTGTAGTTTCAAATACCATTTCTGTTGGAAACATAGACTCTTTGATTAATTACAACTAGGTTTATTTCTGACCACAGATCTTTTCTTAAGTGACTTAGTCCTTATCTCTTGGCTGAAAATGGGCTAGGGGTTGGGGAAGGAATGAGAATGTGTGAGTGGCATAGGTGACATCACACTAGCAGTAATGGTGAAGGGACTATAAACCTTAAGACCAAGCTGCTGGGCATTTCCTGTCCTGGGATCTCTGAGGTCCCAGTAAACACTCTTCATTTCTTCCCGGACTGGCTTCTTACTCCATTCACAAATGGCTTTTAAGTATAACTGAGGGTCAGAAGGTATGAGCTGTAGACCGAGACAGGCTTTGAGCTCTCTAGCTGAATCCTAGCTATCCTGAGCATAGCTAGCAGGACAAGTTTGGACGGGTCTGCAGGTCTCCTCCAACACCCTCTTTCCCCATGTCTGTGTCCTCACCTGTACTACCTGTAGACGAGGGGCCATGACACTTCCTGGGGAGGATGGAGTCAGTGCTGGCTGCTTCTGTCATGAGCCTATGTGCACCCTGCTTCTTCTTTCAGGTGGCCACAAAGCGGGCACAGGCCTGGTGCTACAGCAAAAACAACATTCCCTACTTTGAGACCAGTGCCAAGGAGGCCATCAACATGGAGCAGGCGTTCCAGACGATTGCACGGAATGCACTTAAGCAGGTGGGTCTCCCACAGCTGACCAGCCCACTCTGGTGATGCCTGACCACTGACCCAGTCCCTGCCTGGCCTCCTGCCCTTAATCTTCTTCCCTAACCCACTCTTTTCTGTATAGCCAGAATACCCTATGTGTTCATCTGGGAAGGTTATGACATGTTCTGCTTAAGCTTCCAGAAATCCCACTTTGGGGGGAATAATATAAAAGATGCAGAGGCTGTGAAGTCTGAGGCTGCCCTTCTTTTACTAGGCTTGTTCTTATTTTCTTTGCTGTGATTAGGAGATCAGGTCACTGGGAGACCCCGAACAGATTGCTGCTTCTATTTAAGGAGGAAATAAACTTGAATATGAATCCCAGCTCTGCTGCGTACCAATCGTTATATCTAGTTTGGGCTTAAAAAAAAATTATGGCCGGGCACTGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCGGGCTGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCCTCTCCACTAAAAAATACAAAAAAATTAGCCAGACCTGGTGGTGGTCGCCAGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGCGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCATCCTGGGTGACAGAGTGGGACTCTGTCTAAAAAAAATTAAAAATTAAAATAAAAAAAATTATATCTGAACTTCTACCCCCTCACCTGAAAAATGGGAATACCTGCTTTTGCAGGGTGATTATGAAGATTAAATGAGACAGACTCTTCCAGCTCTCACATACTGACTGGTAACTTTTTTCCTTAGGAACAGTTAAGTAAACAACACAAAGAAGGAAGAAGATGTAGGAAAACTATTCAAGGAATATAATACCTAGAATTTCTTATTTACTGTTTCTGTGATTAGATACAACCACTCATGCGAGTTGAAAGTCTGTTTTGATGTACAGCTCTGTTAGGGGCAGTGGTGATTAAGGCAGGTCACGAGGCCTCATCAGACAGTGTCTGGGGGTGGTCAGAGGTGTGGCAGGTTTGGGAGGATGCATAGAACACTTGAAGCACATGGTGGCTGTGAAGGGCAAGGCAGATTCTGCTGACTCCAGGAAGCCGGCTGAATGAAGGTAATGGCTTTCAGCAGGACAAAGAGTTGTTTGTAATGGTTGCTCCAAGGACCAGGGAAATTCTGGCATGGGTGGGGTCTGCACTAAGTGTTCCAGAATGAAAGGGACAGATCTACTCAATGAGGAAATTGTTCCACCCAGAATGCCAGGAGAGCCCTCAAGTGGTAAGGAGCAGACCAAGATGCAGACTTGGCCACGCTTACCCCCAAATAATAATGTTTGTGTTTTTCTTAATGTTCATATAAGGGAATGGAAATCCAAATATGTGTAGGAAAGTGTTTCCCACCTGTTCCCTGTTGCCTGGCATCACTGTCTGAGTTTTTCTCTTCCATCACTACTGTCCCTGTTGTCTTTATGCTTTTATTTTTAGAGCTAGCCCTTAAGAAGTTAGATTGTTAAATCGGAGGGTGTATCTTATTGTAAGTCAGGGTGCCAGGTTGCTTTCCCCAAGGGGAATAACATTTCAGCAATGTGGGCTTGCTTTCTTCTACCTCCTTGCCAGCAAGCAATAGGTGTCACCTGTCACTGCTGACATTGCCGATCTTTGGGTGTGTAAATTGCCACCATCGTGACTACTGGTCCCTCTGAGTTCCCCTCCCTGGGGCTTAGCCATTTGGATTTTCTCTGCTGCACACAGCCGGCACACAGCACATGGTTGGGCCTCTCTCAGTTCTCATGAGCTGTTGGTGAATTGAAGTTAACTCTACTTGCATCTTAAGTGACTTTTCCAACTCTGTGGTCTTTTTAAGTCCTTTGAACATAGGGAAAAAGTAATTTTTTATTTGGTTATGTCATTTTAAGTTTCTATGTTTCCTGTGTCTACCTCAGATTTTTCTGTAATTCAGCT
Task1_train_7507
This gene mutation involves ACAD9 (acyl-CoA dehydrogenase family member 9) on Chromosome 3. Is it associated with any clinical condition, or is it benign?
Pathogenic; Acyl-CoA dehydrogenase 9 deficiency
GACCTTAGACAAGGTAAAATAATCTGAAAAGATGCCTGCAAATATTTTGCAGTTTAGACTCTACGCCTTGCAGAGTTTTGAGCTCTTTTTTCTTGATGTTGTGTTAGCAATGTAATCTTTTTTGGTGCTGAGCTTAGCTTGCTGAGATGAAAGGGATTTCTTTTTCTTCTCAAGGAGTTGACACAATGGAAGCTGGAGGCATTTCCCAACACTGTGGTCAATGCTACAGTCGGGGAACAAGCAAGTCTCCCCCAAAACAGGGATCGGAGTTTTTAAGGATAATTTGGCGAGTAGGAGCTCGGGAAGTGGGGAGTGCTGACTGGTTGGGTTGGAGATGGAATGATAGGGGGTTGAAGTGAGTTTTTCTTGCTGTCTTCTGTTCCTAGGTGGGATTGCAAAACTTGTTGAGCCAGATTACCGGTCTGGGTGAAAAAGCAGAGTGGCATTCTTCCTGGAGGAGCTGGCTGAAGATCTGTAGAGGGCCCATGTGCCACGTTCAGAGCACTGTTGGGCTGTGAGGTGCCAGGCATGCCCTGCCTCCTACGTGGGCCCCTATGGCCTGGCCTTGAAACCGCCACTGCAAAATTATAACCGAGACAATGAAAGAGATCTGACCTAACCAACTCCATCTTGCTTCTAACCTCCAAGCTGTCCTTGTTCATTCCTGAGCGTAGGCTGAACTAACCTTGGGAAGGAATGAGTTTATAGTTTAACTTCAAAACAAAAATAGCCCTTTCCCGGGAAAACAACAACAACAACAACAAAAAACAACCTCTTCTTGCCTGGGACCAGTTGGCCTTTGGAGGACTAACAAATTAGCTATAAGATTAGAAATTACAGTTTAGAGGCCATACAGCCTTTGGTTGCAAGAGTCTGAACGTCCCCCAAATTGTTCCTGGGAATAACATCACTGTTGTAAAACCTACCAACACCCAGACTGGTAATCTGGCTCAACTAGTTCTGCAATCCCATTCAGGAACAGAAGACAGCAAGAAAAACTCACTTCGGCCCCCTATCAGTCCATCTCCAACCCGACCAATCATGCACCTCCCACTTCCCGAGCTTCTACTCGCCAAATTATCCTTAAAAATTCCGATCCGTTTTTGGGGAGACCGATTTGGCTAATAAAACTCCCTTTCCAACACACCCGGCTCTGCGTGAATTACTCTCTCTCTATTGCAATTTCCGTCTTGATAAATCAGCTGTCTAGTCAGCGGGCTGTAACCTTGGGCGGTTACAGCCTGGCCTGTCCCATCCCATCCAATAGTTCCCATCTCTTCTCAGCTCTCTCTGTAGTTTCTCTTCCTCCGCCTGCCTTTTAAGTTAGTGTTTCCCAGGACAGAGGTGACTCAGTTGTATCCAGACCGCTCTGTGACTGAACACCCACTTTCTTTTCCTTTTCCAAAAAATATATGTAACATACATGTCAACTAGGAACAAAACAGTATCTCAGGAATCCACCATCCAGTTAAAAATGGACCCTTACCCTTACCGTGCCCCTGCAGAGACCCCAATACAGCGCATTTCCCTCATTCTTTTGCTTTTCTCAAGTTTTACCACGGCCTCGTGGCCACAAGTGACAAAAGAGACAAGTGGAGGCAGCTGAGCCGGCCTTTAGGTTTCTGTACACAGGGAGATTTCCCATGGCTGGCATTTATGGAAACAACCGCTGGTATGTGAAAAACAGGTCCGTCACCGCCGTCACGACGGCCAGAGATTATACCCGCCGAGATGCCCGCGGCCCAGGGCCTACAATTTCCTCCGGCCAGCTCCTTTGGCCGCGCAAGCGCAGTGGGGCCGGCGGGAAGCGTAGGCGTGTGACGTCATCAGGCGGCGCGGGCCAGCCAGGTGCACGTGACTAAGGCCTTGGGCGCGGCAGGTGGTAGCCTTCCCGCCCTTCTGGCCTCTCCATCCCCTGCTGCGGGGGACCGCGCAAGCGCAGTGAGTACTGCACGTTGTCGCGGGCCAGTAACGTCATCAGACGTGTGTGTGTCCCTGCGGCGCTAAGAAGGGGAGACTGAGGCTGAGGCTGGGGAACATCGGGCAGCATGAGCGGCTGCGGGCTCTTCCTGCGCACCACGGCTGCGGCTCGTGCCTGCCGGGGTCTGGTGGTCTCTACCGCGAACCGGCGGCTACTGCGCACCAGCCCGCCTGTACGAGCTTTCGCCAAAGAGCTTTTCCTAGGCAAAATCAAGAAGGTAACGCGAGCCCTGGGCGAACCCTTGCTGTCTGGCTCCCGCTTTTCACCCTCAGCTGCAAGACTGGTGTTGAACTTTGTGAGATTCCCCAAACCTGCCAGAGAGATACACCCTGCGGCCGAGGCGTGTTAACACTCCGGATTCCTGAGTTCCAGGAAAACCTTCCCAGAGAAAGGGTGAGACATTTCCAAGACGGGGGACCCTTGGAAATGTGGTGGTGACGTGTTCCAGCTAAATTTTGTCAGGGGAATTCGGAAAACTCTAGGCTAGGTAATTAACAAAGCAGCCTTCATCTCAGCTGGTCTGGTCTGGAAATGTGCGGGGCTTCCTCTCTGATTCCTAAACAGCTTACACCATGTCCCTCCTCAGTCACCTTCCAGCGCCCTGGGGCTTCCTTCCCCAGGTGAGCCCAGCGCCTCTCCCTGCCATTGAGGTTCCTCAGAAATCTGGCTCCAAGATGCTTCCCAAGGGTGGCACAACCCAGCCAATAGTAACAGTTTGGTTATAAAACACTCATTGTCTTCTTAGAGTTGGAAGACTTGGGTTTGGTCTTGGCTCGTTGACTTTGAAACTCAGTTGTTTTTTTTGAGACAGAGTCGCGCTCTTGTCGCCCAGGCTGGAGTGCTCACTGCAACCTCCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCCTGCCCGGCTTTTTTTTTTTTTGTATTTTTAGCAGAGACGGGGTTTCACCATGTTGGCCAAGCTGGTCTAGAACTGACCTCGGGTGATCCGCCCACCTCGGCCTCCCACAGTGCTGGGATTACAGGGGTGAGCCACCGCGCCCGGCCAAGACTCAGTTCTTTCAGCCTTAAAATGGAGATAGTGTTGTGTCTCCTTCACAGATGTGTTGTAGAGCCCCAGTGAGATAAACGGTGCATGGAGAGTCTTCTTAAACTGTAGAGTACTGTGCAGCAGAAGAGAGAGCTGGCTTCAACACTTAGTCTTGTGACCTTGGAGCTGACGGCTGCACCTCCCTGTGCCTCAGTGCATTCATCTACAAAATAGGAATAAACACATTTCTTGCTCTTTCCTTTGTATTTCATTTTATCTTCTAAGGAAACCAACAGTATACTTGCTATTTCGTCGAGGTGCCCTACTTTGAACTTGGCTGAATGTTGGCTGATCCTGTATCACAGAAGTTATTCCCTGGCTTCTCTTTGGAACGTTCCTCTGAGGTTGTCAGGCTGATACCTTTATAGCAAGCAACTTTACAGATGAAGAAGCTAAGACTCAGACTAAAAGCAGTTTGCCCAGCTAGAAAGTGCGGAGCTATGTCTTGAACATATTGGAAAACCTTTTACCCAGGACCTGGGGCAGTGTGGTGCTCTATCCTGGGACTTCCTGCTATCCAGCAGCATGGTGAAGAAAGAACACAGATCTTTCAGATCTGTTTCCATCTTTAAACCTCTGGCACTACCTGCCCTGCCCTGCCTTTACTCTCAGCTGTCAGCTTTGCTTCCCATTCCACTGGGAAAATCCATGCAGTCGGATGAGAAGTTCACAGGCACAGTTACCCCCTCCCGCTGCATATGTGCCGGTATTATCTACATTCTGTTACTGTGAACTGTCTGCTCCTGGCAAAACCAACCTCTCATTAGACTCCAGGTCTTCTCACCTACTCAAGGGTAATTCTTTCCTTTCTCTGCATCATTAACTGTTCTCTCTACTGGATCTTGAGCCCTTACCATTCAGGCATTTGTCCCTAATGGCCATAGAAGTCAGTAATGACCTCTCTGTTATCAAATTGTGTGATCTGTTCTCAGACCTCATCCTACTTGACCCATCATTGGCATCTGACACCGTTCATCCTTCCACCCTGTTGACGCACTTTCGTCTCTGGT
GACCTTAGACAAGGTAAAATAATCTGAAAAGATGCCTGCAAATATTTTGCAGTTTAGACTCTACGCCTTGCAGAGTTTTGAGCTCTTTTTTCTTGATGTTGTGTTAGCAATGTAATCTTTTTTGGTGCTGAGCTTAGCTTGCTGAGATGAAAGGGATTTCTTTTTCTTCTCAAGGAGTTGACACAATGGAAGCTGGAGGCATTTCCCAACACTGTGGTCAATGCTACAGTCGGGGAACAAGCAAGTCTCCCCCAAAACAGGGATCGGAGTTTTTAAGGATAATTTGGCGAGTAGGAGCTCGGGAAGTGGGGAGTGCTGACTGGTTGGGTTGGAGATGGAATGATAGGGGGTTGAAGTGAGTTTTTCTTGCTGTCTTCTGTTCCTAGGTGGGATTGCAAAACTTGTTGAGCCAGATTACCGGTCTGGGTGAAAAAGCAGAGTGGCATTCTTCCTGGAGGAGCTGGCTGAAGATCTGTAGAGGGCCCATGTGCCACGTTCAGAGCACTGTTGGGCTGTGAGGTGCCAGGCATGCCCTGCCTCCTACGTGGGCCCCTATGGCCTGGCCTTGAAACCGCCACTGCAAAATTATAACCGAGACAATGAAAGAGATCTGACCTAACCAACTCCATCTTGCTTCTAACCTCCAAGCTGTCCTTGTTCATTCCTGAGCGTAGGCTGAACTAACCTTGGGAAGGAATGAGTTTATAGTTTAACTTCAAAACAAAAATAGCCCTTTCCCGGGAAAACAACAACAACAACAACAAAAAACAACCTCTTCTTGCCTGGGACCAGTTGGCCTTTGGAGGACTAACAAATTAGCTATAAGATTAGAAATTACAGTTTAGAGGCCATACAGCCTTTGGTTGCAAGAGTCTGAACGTCCCCCAAATTGTTCCTGGGAATAACATCACTGTTGTAAAACCTACCAACACCCAGACTGGTAATCTGGCTCAACTAGTTCTGCAATCCCATTCAGGAACAGAAGACAGCAAGAAAAACTCACTTCGGCCCCCTATCAGTCCATCTCCAACCCGACCAATCATGCACCTCCCACTTCCCGAGCTTCTACTCGCCAAATTATCCTTAAAAATTCCGATCCGTTTTTGGGGAGACCGATTTGGCTAATAAAACTCCCTTTCCAACACACCCGGCTCTGCGTGAATTACTCTCTCTCTATTGCAATTTCCGTCTTGATAAATCAGCTGTCTAGTCAGCGGGCTGTAACCTTGGGCGGTTACAGCCTGGCCTGTCCCATCCCATCCAATAGTTCCCATCTCTTCTCAGCTCTCTCTGTAGTTTCTCTTCCTCCGCCTGCCTTTTAAGTTAGTGTTTCCCAGGACAGAGGTGACTCAGTTGTATCCAGACCGCTCTGTGACTGAACACCCACTTTCTTTTCCTTTTCCAAAAAATATATGTAACATACATGTCAACTAGGAACAAAACAGTATCTCAGGAATCCACCATCCAGTTAAAAATGGACCCTTACCCTTACCGTGCCCCTGCAGAGACCCCAATACAGCGCATTTCCCTCATTCTTTTGCTTTTCTCAAGTTTTACCACGGCCTCGTGGCCACAAGTGACAAAAGAGACAAGTGGAGGCAGCTGAGCCGGCCTTTAGGTTTCTGTACACAGGGAGATTTCCCATGGCTGGCATTTATGGAAACAACCGCTGGTATGTGAAAAACAGGTCCGTCACCGCCGTCACGACGGCCAGAGATTATACCCGCCGAGATGCCCGCGGCCCAGGGCCTACAATTTCCTCCGGCCAGCTCCTTTGGCCGCGCAAGCGCAGTGGGGCCGGCGGGAAGCGTAGGCGTGTGACGTCATCAGGCGGCGCGGGCCAGCCAGGTGCACGTGACTAAGGCCTTGGGCGCGGCAGGTGGTAGCCTTCCCGCCCTTCTGGCCTCTCCATCCCCTGCTGCGGGGGACCGCGCAAGCGCAGTGAGTACTGCACGTTGTCGCGGGCCAGTAACGTCATCAGACGTGTGTGTGTCCCTGCGGCGCTAAGAAGGGGAGACTGAGGCTGAGGCTGGGGAACATCGGGCAGCTTGAGCGGCTGCGGGCTCTTCCTGCGCACCACGGCTGCGGCTCGTGCCTGCCGGGGTCTGGTGGTCTCTACCGCGAACCGGCGGCTACTGCGCACCAGCCCGCCTGTACGAGCTTTCGCCAAAGAGCTTTTCCTAGGCAAAATCAAGAAGGTAACGCGAGCCCTGGGCGAACCCTTGCTGTCTGGCTCCCGCTTTTCACCCTCAGCTGCAAGACTGGTGTTGAACTTTGTGAGATTCCCCAAACCTGCCAGAGAGATACACCCTGCGGCCGAGGCGTGTTAACACTCCGGATTCCTGAGTTCCAGGAAAACCTTCCCAGAGAAAGGGTGAGACATTTCCAAGACGGGGGACCCTTGGAAATGTGGTGGTGACGTGTTCCAGCTAAATTTTGTCAGGGGAATTCGGAAAACTCTAGGCTAGGTAATTAACAAAGCAGCCTTCATCTCAGCTGGTCTGGTCTGGAAATGTGCGGGGCTTCCTCTCTGATTCCTAAACAGCTTACACCATGTCCCTCCTCAGTCACCTTCCAGCGCCCTGGGGCTTCCTTCCCCAGGTGAGCCCAGCGCCTCTCCCTGCCATTGAGGTTCCTCAGAAATCTGGCTCCAAGATGCTTCCCAAGGGTGGCACAACCCAGCCAATAGTAACAGTTTGGTTATAAAACACTCATTGTCTTCTTAGAGTTGGAAGACTTGGGTTTGGTCTTGGCTCGTTGACTTTGAAACTCAGTTGTTTTTTTTGAGACAGAGTCGCGCTCTTGTCGCCCAGGCTGGAGTGCTCACTGCAACCTCCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCCTGCCCGGCTTTTTTTTTTTTTGTATTTTTAGCAGAGACGGGGTTTCACCATGTTGGCCAAGCTGGTCTAGAACTGACCTCGGGTGATCCGCCCACCTCGGCCTCCCACAGTGCTGGGATTACAGGGGTGAGCCACCGCGCCCGGCCAAGACTCAGTTCTTTCAGCCTTAAAATGGAGATAGTGTTGTGTCTCCTTCACAGATGTGTTGTAGAGCCCCAGTGAGATAAACGGTGCATGGAGAGTCTTCTTAAACTGTAGAGTACTGTGCAGCAGAAGAGAGAGCTGGCTTCAACACTTAGTCTTGTGACCTTGGAGCTGACGGCTGCACCTCCCTGTGCCTCAGTGCATTCATCTACAAAATAGGAATAAACACATTTCTTGCTCTTTCCTTTGTATTTCATTTTATCTTCTAAGGAAACCAACAGTATACTTGCTATTTCGTCGAGGTGCCCTACTTTGAACTTGGCTGAATGTTGGCTGATCCTGTATCACAGAAGTTATTCCCTGGCTTCTCTTTGGAACGTTCCTCTGAGGTTGTCAGGCTGATACCTTTATAGCAAGCAACTTTACAGATGAAGAAGCTAAGACTCAGACTAAAAGCAGTTTGCCCAGCTAGAAAGTGCGGAGCTATGTCTTGAACATATTGGAAAACCTTTTACCCAGGACCTGGGGCAGTGTGGTGCTCTATCCTGGGACTTCCTGCTATCCAGCAGCATGGTGAAGAAAGAACACAGATCTTTCAGATCTGTTTCCATCTTTAAACCTCTGGCACTACCTGCCCTGCCCTGCCTTTACTCTCAGCTGTCAGCTTTGCTTCCCATTCCACTGGGAAAATCCATGCAGTCGGATGAGAAGTTCACAGGCACAGTTACCCCCTCCCGCTGCATATGTGCCGGTATTATCTACATTCTGTTACTGTGAACTGTCTGCTCCTGGCAAAACCAACCTCTCATTAGACTCCAGGTCTTCTCACCTACTCAAGGGTAATTCTTTCCTTTCTCTGCATCATTAACTGTTCTCTCTACTGGATCTTGAGCCCTTACCATTCAGGCATTTGTCCCTAATGGCCATAGAAGTCAGTAATGACCTCTCTGTTATCAAATTGTGTGATCTGTTCTCAGACCTCATCCTACTTGACCCATCATTGGCATCTGACACCGTTCATCCTTCCACCCTGTTGACGCACTTTCGTCTCTGGT
Task1_train_7508
This gene mutation involves ACAD9 (acyl-CoA dehydrogenase family member 9) on Chromosome 3. Is it associated with any clinical condition, or is it benign?
Pathogenic; not provided
CCTTAGACAAGGTAAAATAATCTGAAAAGATGCCTGCAAATATTTTGCAGTTTAGACTCTACGCCTTGCAGAGTTTTGAGCTCTTTTTTCTTGATGTTGTGTTAGCAATGTAATCTTTTTTGGTGCTGAGCTTAGCTTGCTGAGATGAAAGGGATTTCTTTTTCTTCTCAAGGAGTTGACACAATGGAAGCTGGAGGCATTTCCCAACACTGTGGTCAATGCTACAGTCGGGGAACAAGCAAGTCTCCCCCAAAACAGGGATCGGAGTTTTTAAGGATAATTTGGCGAGTAGGAGCTCGGGAAGTGGGGAGTGCTGACTGGTTGGGTTGGAGATGGAATGATAGGGGGTTGAAGTGAGTTTTTCTTGCTGTCTTCTGTTCCTAGGTGGGATTGCAAAACTTGTTGAGCCAGATTACCGGTCTGGGTGAAAAAGCAGAGTGGCATTCTTCCTGGAGGAGCTGGCTGAAGATCTGTAGAGGGCCCATGTGCCACGTTCAGAGCACTGTTGGGCTGTGAGGTGCCAGGCATGCCCTGCCTCCTACGTGGGCCCCTATGGCCTGGCCTTGAAACCGCCACTGCAAAATTATAACCGAGACAATGAAAGAGATCTGACCTAACCAACTCCATCTTGCTTCTAACCTCCAAGCTGTCCTTGTTCATTCCTGAGCGTAGGCTGAACTAACCTTGGGAAGGAATGAGTTTATAGTTTAACTTCAAAACAAAAATAGCCCTTTCCCGGGAAAACAACAACAACAACAACAAAAAACAACCTCTTCTTGCCTGGGACCAGTTGGCCTTTGGAGGACTAACAAATTAGCTATAAGATTAGAAATTACAGTTTAGAGGCCATACAGCCTTTGGTTGCAAGAGTCTGAACGTCCCCCAAATTGTTCCTGGGAATAACATCACTGTTGTAAAACCTACCAACACCCAGACTGGTAATCTGGCTCAACTAGTTCTGCAATCCCATTCAGGAACAGAAGACAGCAAGAAAAACTCACTTCGGCCCCCTATCAGTCCATCTCCAACCCGACCAATCATGCACCTCCCACTTCCCGAGCTTCTACTCGCCAAATTATCCTTAAAAATTCCGATCCGTTTTTGGGGAGACCGATTTGGCTAATAAAACTCCCTTTCCAACACACCCGGCTCTGCGTGAATTACTCTCTCTCTATTGCAATTTCCGTCTTGATAAATCAGCTGTCTAGTCAGCGGGCTGTAACCTTGGGCGGTTACAGCCTGGCCTGTCCCATCCCATCCAATAGTTCCCATCTCTTCTCAGCTCTCTCTGTAGTTTCTCTTCCTCCGCCTGCCTTTTAAGTTAGTGTTTCCCAGGACAGAGGTGACTCAGTTGTATCCAGACCGCTCTGTGACTGAACACCCACTTTCTTTTCCTTTTCCAAAAAATATATGTAACATACATGTCAACTAGGAACAAAACAGTATCTCAGGAATCCACCATCCAGTTAAAAATGGACCCTTACCCTTACCGTGCCCCTGCAGAGACCCCAATACAGCGCATTTCCCTCATTCTTTTGCTTTTCTCAAGTTTTACCACGGCCTCGTGGCCACAAGTGACAAAAGAGACAAGTGGAGGCAGCTGAGCCGGCCTTTAGGTTTCTGTACACAGGGAGATTTCCCATGGCTGGCATTTATGGAAACAACCGCTGGTATGTGAAAAACAGGTCCGTCACCGCCGTCACGACGGCCAGAGATTATACCCGCCGAGATGCCCGCGGCCCAGGGCCTACAATTTCCTCCGGCCAGCTCCTTTGGCCGCGCAAGCGCAGTGGGGCCGGCGGGAAGCGTAGGCGTGTGACGTCATCAGGCGGCGCGGGCCAGCCAGGTGCACGTGACTAAGGCCTTGGGCGCGGCAGGTGGTAGCCTTCCCGCCCTTCTGGCCTCTCCATCCCCTGCTGCGGGGGACCGCGCAAGCGCAGTGAGTACTGCACGTTGTCGCGGGCCAGTAACGTCATCAGACGTGTGTGTGTCCCTGCGGCGCTAAGAAGGGGAGACTGAGGCTGAGGCTGGGGAACATCGGGCAGCATGAGCGGCTGCGGGCTCTTCCTGCGCACCACGGCTGCGGCTCGTGCCTGCCGGGGTCTGGTGGTCTCTACCGCGAACCGGCGGCTACTGCGCACCAGCCCGCCTGTACGAGCTTTCGCCAAAGAGCTTTTCCTAGGCAAAATCAAGAAGGTAACGCGAGCCCTGGGCGAACCCTTGCTGTCTGGCTCCCGCTTTTCACCCTCAGCTGCAAGACTGGTGTTGAACTTTGTGAGATTCCCCAAACCTGCCAGAGAGATACACCCTGCGGCCGAGGCGTGTTAACACTCCGGATTCCTGAGTTCCAGGAAAACCTTCCCAGAGAAAGGGTGAGACATTTCCAAGACGGGGGACCCTTGGAAATGTGGTGGTGACGTGTTCCAGCTAAATTTTGTCAGGGGAATTCGGAAAACTCTAGGCTAGGTAATTAACAAAGCAGCCTTCATCTCAGCTGGTCTGGTCTGGAAATGTGCGGGGCTTCCTCTCTGATTCCTAAACAGCTTACACCATGTCCCTCCTCAGTCACCTTCCAGCGCCCTGGGGCTTCCTTCCCCAGGTGAGCCCAGCGCCTCTCCCTGCCATTGAGGTTCCTCAGAAATCTGGCTCCAAGATGCTTCCCAAGGGTGGCACAACCCAGCCAATAGTAACAGTTTGGTTATAAAACACTCATTGTCTTCTTAGAGTTGGAAGACTTGGGTTTGGTCTTGGCTCGTTGACTTTGAAACTCAGTTGTTTTTTTTGAGACAGAGTCGCGCTCTTGTCGCCCAGGCTGGAGTGCTCACTGCAACCTCCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCCTGCCCGGCTTTTTTTTTTTTTGTATTTTTAGCAGAGACGGGGTTTCACCATGTTGGCCAAGCTGGTCTAGAACTGACCTCGGGTGATCCGCCCACCTCGGCCTCCCACAGTGCTGGGATTACAGGGGTGAGCCACCGCGCCCGGCCAAGACTCAGTTCTTTCAGCCTTAAAATGGAGATAGTGTTGTGTCTCCTTCACAGATGTGTTGTAGAGCCCCAGTGAGATAAACGGTGCATGGAGAGTCTTCTTAAACTGTAGAGTACTGTGCAGCAGAAGAGAGAGCTGGCTTCAACACTTAGTCTTGTGACCTTGGAGCTGACGGCTGCACCTCCCTGTGCCTCAGTGCATTCATCTACAAAATAGGAATAAACACATTTCTTGCTCTTTCCTTTGTATTTCATTTTATCTTCTAAGGAAACCAACAGTATACTTGCTATTTCGTCGAGGTGCCCTACTTTGAACTTGGCTGAATGTTGGCTGATCCTGTATCACAGAAGTTATTCCCTGGCTTCTCTTTGGAACGTTCCTCTGAGGTTGTCAGGCTGATACCTTTATAGCAAGCAACTTTACAGATGAAGAAGCTAAGACTCAGACTAAAAGCAGTTTGCCCAGCTAGAAAGTGCGGAGCTATGTCTTGAACATATTGGAAAACCTTTTACCCAGGACCTGGGGCAGTGTGGTGCTCTATCCTGGGACTTCCTGCTATCCAGCAGCATGGTGAAGAAAGAACACAGATCTTTCAGATCTGTTTCCATCTTTAAACCTCTGGCACTACCTGCCCTGCCCTGCCTTTACTCTCAGCTGTCAGCTTTGCTTCCCATTCCACTGGGAAAATCCATGCAGTCGGATGAGAAGTTCACAGGCACAGTTACCCCCTCCCGCTGCATATGTGCCGGTATTATCTACATTCTGTTACTGTGAACTGTCTGCTCCTGGCAAAACCAACCTCTCATTAGACTCCAGGTCTTCTCACCTACTCAAGGGTAATTCTTTCCTTTCTCTGCATCATTAACTGTTCTCTCTACTGGATCTTGAGCCCTTACCATTCAGGCATTTGTCCCTAATGGCCATAGAAGTCAGTAATGACCTCTCTGTTATCAAATTGTGTGATCTGTTCTCAGACCTCATCCTACTTGACCCATCATTGGCATCTGACACCGTTCATCCTTCCACCCTGTTGACGCACTTTCGTCTCTGGTTT
CCTTAGACAAGGTAAAATAATCTGAAAAGATGCCTGCAAATATTTTGCAGTTTAGACTCTACGCCTTGCAGAGTTTTGAGCTCTTTTTTCTTGATGTTGTGTTAGCAATGTAATCTTTTTTGGTGCTGAGCTTAGCTTGCTGAGATGAAAGGGATTTCTTTTTCTTCTCAAGGAGTTGACACAATGGAAGCTGGAGGCATTTCCCAACACTGTGGTCAATGCTACAGTCGGGGAACAAGCAAGTCTCCCCCAAAACAGGGATCGGAGTTTTTAAGGATAATTTGGCGAGTAGGAGCTCGGGAAGTGGGGAGTGCTGACTGGTTGGGTTGGAGATGGAATGATAGGGGGTTGAAGTGAGTTTTTCTTGCTGTCTTCTGTTCCTAGGTGGGATTGCAAAACTTGTTGAGCCAGATTACCGGTCTGGGTGAAAAAGCAGAGTGGCATTCTTCCTGGAGGAGCTGGCTGAAGATCTGTAGAGGGCCCATGTGCCACGTTCAGAGCACTGTTGGGCTGTGAGGTGCCAGGCATGCCCTGCCTCCTACGTGGGCCCCTATGGCCTGGCCTTGAAACCGCCACTGCAAAATTATAACCGAGACAATGAAAGAGATCTGACCTAACCAACTCCATCTTGCTTCTAACCTCCAAGCTGTCCTTGTTCATTCCTGAGCGTAGGCTGAACTAACCTTGGGAAGGAATGAGTTTATAGTTTAACTTCAAAACAAAAATAGCCCTTTCCCGGGAAAACAACAACAACAACAACAAAAAACAACCTCTTCTTGCCTGGGACCAGTTGGCCTTTGGAGGACTAACAAATTAGCTATAAGATTAGAAATTACAGTTTAGAGGCCATACAGCCTTTGGTTGCAAGAGTCTGAACGTCCCCCAAATTGTTCCTGGGAATAACATCACTGTTGTAAAACCTACCAACACCCAGACTGGTAATCTGGCTCAACTAGTTCTGCAATCCCATTCAGGAACAGAAGACAGCAAGAAAAACTCACTTCGGCCCCCTATCAGTCCATCTCCAACCCGACCAATCATGCACCTCCCACTTCCCGAGCTTCTACTCGCCAAATTATCCTTAAAAATTCCGATCCGTTTTTGGGGAGACCGATTTGGCTAATAAAACTCCCTTTCCAACACACCCGGCTCTGCGTGAATTACTCTCTCTCTATTGCAATTTCCGTCTTGATAAATCAGCTGTCTAGTCAGCGGGCTGTAACCTTGGGCGGTTACAGCCTGGCCTGTCCCATCCCATCCAATAGTTCCCATCTCTTCTCAGCTCTCTCTGTAGTTTCTCTTCCTCCGCCTGCCTTTTAAGTTAGTGTTTCCCAGGACAGAGGTGACTCAGTTGTATCCAGACCGCTCTGTGACTGAACACCCACTTTCTTTTCCTTTTCCAAAAAATATATGTAACATACATGTCAACTAGGAACAAAACAGTATCTCAGGAATCCACCATCCAGTTAAAAATGGACCCTTACCCTTACCGTGCCCCTGCAGAGACCCCAATACAGCGCATTTCCCTCATTCTTTTGCTTTTCTCAAGTTTTACCACGGCCTCGTGGCCACAAGTGACAAAAGAGACAAGTGGAGGCAGCTGAGCCGGCCTTTAGGTTTCTGTACACAGGGAGATTTCCCATGGCTGGCATTTATGGAAACAACCGCTGGTATGTGAAAAACAGGTCCGTCACCGCCGTCACGACGGCCAGAGATTATACCCGCCGAGATGCCCGCGGCCCAGGGCCTACAATTTCCTCCGGCCAGCTCCTTTGGCCGCGCAAGCGCAGTGGGGCCGGCGGGAAGCGTAGGCGTGTGACGTCATCAGGCGGCGCGGGCCAGCCAGGTGCACGTGACTAAGGCCTTGGGCGCGGCAGGTGGTAGCCTTCCCGCCCTTCTGGCCTCTCCATCCCCTGCTGCGGGGGACCGCGCAAGCGCAGTGAGTACTGCACGTTGTCGCGGGCCAGTAACGTCATCAGACGTGTGTGTGTCCCTGCGGCGCTAAGAAGGGGAGACTGAGGCTGAGGCTGGGGAACATCGGGCAGCATAAGCGGCTGCGGGCTCTTCCTGCGCACCACGGCTGCGGCTCGTGCCTGCCGGGGTCTGGTGGTCTCTACCGCGAACCGGCGGCTACTGCGCACCAGCCCGCCTGTACGAGCTTTCGCCAAAGAGCTTTTCCTAGGCAAAATCAAGAAGGTAACGCGAGCCCTGGGCGAACCCTTGCTGTCTGGCTCCCGCTTTTCACCCTCAGCTGCAAGACTGGTGTTGAACTTTGTGAGATTCCCCAAACCTGCCAGAGAGATACACCCTGCGGCCGAGGCGTGTTAACACTCCGGATTCCTGAGTTCCAGGAAAACCTTCCCAGAGAAAGGGTGAGACATTTCCAAGACGGGGGACCCTTGGAAATGTGGTGGTGACGTGTTCCAGCTAAATTTTGTCAGGGGAATTCGGAAAACTCTAGGCTAGGTAATTAACAAAGCAGCCTTCATCTCAGCTGGTCTGGTCTGGAAATGTGCGGGGCTTCCTCTCTGATTCCTAAACAGCTTACACCATGTCCCTCCTCAGTCACCTTCCAGCGCCCTGGGGCTTCCTTCCCCAGGTGAGCCCAGCGCCTCTCCCTGCCATTGAGGTTCCTCAGAAATCTGGCTCCAAGATGCTTCCCAAGGGTGGCACAACCCAGCCAATAGTAACAGTTTGGTTATAAAACACTCATTGTCTTCTTAGAGTTGGAAGACTTGGGTTTGGTCTTGGCTCGTTGACTTTGAAACTCAGTTGTTTTTTTTGAGACAGAGTCGCGCTCTTGTCGCCCAGGCTGGAGTGCTCACTGCAACCTCCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCCTGCCCGGCTTTTTTTTTTTTTGTATTTTTAGCAGAGACGGGGTTTCACCATGTTGGCCAAGCTGGTCTAGAACTGACCTCGGGTGATCCGCCCACCTCGGCCTCCCACAGTGCTGGGATTACAGGGGTGAGCCACCGCGCCCGGCCAAGACTCAGTTCTTTCAGCCTTAAAATGGAGATAGTGTTGTGTCTCCTTCACAGATGTGTTGTAGAGCCCCAGTGAGATAAACGGTGCATGGAGAGTCTTCTTAAACTGTAGAGTACTGTGCAGCAGAAGAGAGAGCTGGCTTCAACACTTAGTCTTGTGACCTTGGAGCTGACGGCTGCACCTCCCTGTGCCTCAGTGCATTCATCTACAAAATAGGAATAAACACATTTCTTGCTCTTTCCTTTGTATTTCATTTTATCTTCTAAGGAAACCAACAGTATACTTGCTATTTCGTCGAGGTGCCCTACTTTGAACTTGGCTGAATGTTGGCTGATCCTGTATCACAGAAGTTATTCCCTGGCTTCTCTTTGGAACGTTCCTCTGAGGTTGTCAGGCTGATACCTTTATAGCAAGCAACTTTACAGATGAAGAAGCTAAGACTCAGACTAAAAGCAGTTTGCCCAGCTAGAAAGTGCGGAGCTATGTCTTGAACATATTGGAAAACCTTTTACCCAGGACCTGGGGCAGTGTGGTGCTCTATCCTGGGACTTCCTGCTATCCAGCAGCATGGTGAAGAAAGAACACAGATCTTTCAGATCTGTTTCCATCTTTAAACCTCTGGCACTACCTGCCCTGCCCTGCCTTTACTCTCAGCTGTCAGCTTTGCTTCCCATTCCACTGGGAAAATCCATGCAGTCGGATGAGAAGTTCACAGGCACAGTTACCCCCTCCCGCTGCATATGTGCCGGTATTATCTACATTCTGTTACTGTGAACTGTCTGCTCCTGGCAAAACCAACCTCTCATTAGACTCCAGGTCTTCTCACCTACTCAAGGGTAATTCTTTCCTTTCTCTGCATCATTAACTGTTCTCTCTACTGGATCTTGAGCCCTTACCATTCAGGCATTTGTCCCTAATGGCCATAGAAGTCAGTAATGACCTCTCTGTTATCAAATTGTGTGATCTGTTCTCAGACCTCATCCTACTTGACCCATCATTGGCATCTGACACCGTTCATCCTTCCACCCTGTTGACGCACTTTCGTCTCTGGTTT
Task1_train_7509
Given this variant in gene ACAD9 (acyl-CoA dehydrogenase family member 9) on Chromosome 3, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Acyl-CoA dehydrogenase 9 deficiency
GAGCTTAGCTTGCTGAGATGAAAGGGATTTCTTTTTCTTCTCAAGGAGTTGACACAATGGAAGCTGGAGGCATTTCCCAACACTGTGGTCAATGCTACAGTCGGGGAACAAGCAAGTCTCCCCCAAAACAGGGATCGGAGTTTTTAAGGATAATTTGGCGAGTAGGAGCTCGGGAAGTGGGGAGTGCTGACTGGTTGGGTTGGAGATGGAATGATAGGGGGTTGAAGTGAGTTTTTCTTGCTGTCTTCTGTTCCTAGGTGGGATTGCAAAACTTGTTGAGCCAGATTACCGGTCTGGGTGAAAAAGCAGAGTGGCATTCTTCCTGGAGGAGCTGGCTGAAGATCTGTAGAGGGCCCATGTGCCACGTTCAGAGCACTGTTGGGCTGTGAGGTGCCAGGCATGCCCTGCCTCCTACGTGGGCCCCTATGGCCTGGCCTTGAAACCGCCACTGCAAAATTATAACCGAGACAATGAAAGAGATCTGACCTAACCAACTCCATCTTGCTTCTAACCTCCAAGCTGTCCTTGTTCATTCCTGAGCGTAGGCTGAACTAACCTTGGGAAGGAATGAGTTTATAGTTTAACTTCAAAACAAAAATAGCCCTTTCCCGGGAAAACAACAACAACAACAACAAAAAACAACCTCTTCTTGCCTGGGACCAGTTGGCCTTTGGAGGACTAACAAATTAGCTATAAGATTAGAAATTACAGTTTAGAGGCCATACAGCCTTTGGTTGCAAGAGTCTGAACGTCCCCCAAATTGTTCCTGGGAATAACATCACTGTTGTAAAACCTACCAACACCCAGACTGGTAATCTGGCTCAACTAGTTCTGCAATCCCATTCAGGAACAGAAGACAGCAAGAAAAACTCACTTCGGCCCCCTATCAGTCCATCTCCAACCCGACCAATCATGCACCTCCCACTTCCCGAGCTTCTACTCGCCAAATTATCCTTAAAAATTCCGATCCGTTTTTGGGGAGACCGATTTGGCTAATAAAACTCCCTTTCCAACACACCCGGCTCTGCGTGAATTACTCTCTCTCTATTGCAATTTCCGTCTTGATAAATCAGCTGTCTAGTCAGCGGGCTGTAACCTTGGGCGGTTACAGCCTGGCCTGTCCCATCCCATCCAATAGTTCCCATCTCTTCTCAGCTCTCTCTGTAGTTTCTCTTCCTCCGCCTGCCTTTTAAGTTAGTGTTTCCCAGGACAGAGGTGACTCAGTTGTATCCAGACCGCTCTGTGACTGAACACCCACTTTCTTTTCCTTTTCCAAAAAATATATGTAACATACATGTCAACTAGGAACAAAACAGTATCTCAGGAATCCACCATCCAGTTAAAAATGGACCCTTACCCTTACCGTGCCCCTGCAGAGACCCCAATACAGCGCATTTCCCTCATTCTTTTGCTTTTCTCAAGTTTTACCACGGCCTCGTGGCCACAAGTGACAAAAGAGACAAGTGGAGGCAGCTGAGCCGGCCTTTAGGTTTCTGTACACAGGGAGATTTCCCATGGCTGGCATTTATGGAAACAACCGCTGGTATGTGAAAAACAGGTCCGTCACCGCCGTCACGACGGCCAGAGATTATACCCGCCGAGATGCCCGCGGCCCAGGGCCTACAATTTCCTCCGGCCAGCTCCTTTGGCCGCGCAAGCGCAGTGGGGCCGGCGGGAAGCGTAGGCGTGTGACGTCATCAGGCGGCGCGGGCCAGCCAGGTGCACGTGACTAAGGCCTTGGGCGCGGCAGGTGGTAGCCTTCCCGCCCTTCTGGCCTCTCCATCCCCTGCTGCGGGGGACCGCGCAAGCGCAGTGAGTACTGCACGTTGTCGCGGGCCAGTAACGTCATCAGACGTGTGTGTGTCCCTGCGGCGCTAAGAAGGGGAGACTGAGGCTGAGGCTGGGGAACATCGGGCAGCATGAGCGGCTGCGGGCTCTTCCTGCGCACCACGGCTGCGGCTCGTGCCTGCCGGGGTCTGGTGGTCTCTACCGCGAACCGGCGGCTACTGCGCACCAGCCCGCCTGTACGAGCTTTCGCCAAAGAGCTTTTCCTAGGCAAAATCAAGAAGGTAACGCGAGCCCTGGGCGAACCCTTGCTGTCTGGCTCCCGCTTTTCACCCTCAGCTGCAAGACTGGTGTTGAACTTTGTGAGATTCCCCAAACCTGCCAGAGAGATACACCCTGCGGCCGAGGCGTGTTAACACTCCGGATTCCTGAGTTCCAGGAAAACCTTCCCAGAGAAAGGGTGAGACATTTCCAAGACGGGGGACCCTTGGAAATGTGGTGGTGACGTGTTCCAGCTAAATTTTGTCAGGGGAATTCGGAAAACTCTAGGCTAGGTAATTAACAAAGCAGCCTTCATCTCAGCTGGTCTGGTCTGGAAATGTGCGGGGCTTCCTCTCTGATTCCTAAACAGCTTACACCATGTCCCTCCTCAGTCACCTTCCAGCGCCCTGGGGCTTCCTTCCCCAGGTGAGCCCAGCGCCTCTCCCTGCCATTGAGGTTCCTCAGAAATCTGGCTCCAAGATGCTTCCCAAGGGTGGCACAACCCAGCCAATAGTAACAGTTTGGTTATAAAACACTCATTGTCTTCTTAGAGTTGGAAGACTTGGGTTTGGTCTTGGCTCGTTGACTTTGAAACTCAGTTGTTTTTTTTGAGACAGAGTCGCGCTCTTGTCGCCCAGGCTGGAGTGCTCACTGCAACCTCCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCCTGCCCGGCTTTTTTTTTTTTTGTATTTTTAGCAGAGACGGGGTTTCACCATGTTGGCCAAGCTGGTCTAGAACTGACCTCGGGTGATCCGCCCACCTCGGCCTCCCACAGTGCTGGGATTACAGGGGTGAGCCACCGCGCCCGGCCAAGACTCAGTTCTTTCAGCCTTAAAATGGAGATAGTGTTGTGTCTCCTTCACAGATGTGTTGTAGAGCCCCAGTGAGATAAACGGTGCATGGAGAGTCTTCTTAAACTGTAGAGTACTGTGCAGCAGAAGAGAGAGCTGGCTTCAACACTTAGTCTTGTGACCTTGGAGCTGACGGCTGCACCTCCCTGTGCCTCAGTGCATTCATCTACAAAATAGGAATAAACACATTTCTTGCTCTTTCCTTTGTATTTCATTTTATCTTCTAAGGAAACCAACAGTATACTTGCTATTTCGTCGAGGTGCCCTACTTTGAACTTGGCTGAATGTTGGCTGATCCTGTATCACAGAAGTTATTCCCTGGCTTCTCTTTGGAACGTTCCTCTGAGGTTGTCAGGCTGATACCTTTATAGCAAGCAACTTTACAGATGAAGAAGCTAAGACTCAGACTAAAAGCAGTTTGCCCAGCTAGAAAGTGCGGAGCTATGTCTTGAACATATTGGAAAACCTTTTACCCAGGACCTGGGGCAGTGTGGTGCTCTATCCTGGGACTTCCTGCTATCCAGCAGCATGGTGAAGAAAGAACACAGATCTTTCAGATCTGTTTCCATCTTTAAACCTCTGGCACTACCTGCCCTGCCCTGCCTTTACTCTCAGCTGTCAGCTTTGCTTCCCATTCCACTGGGAAAATCCATGCAGTCGGATGAGAAGTTCACAGGCACAGTTACCCCCTCCCGCTGCATATGTGCCGGTATTATCTACATTCTGTTACTGTGAACTGTCTGCTCCTGGCAAAACCAACCTCTCATTAGACTCCAGGTCTTCTCACCTACTCAAGGGTAATTCTTTCCTTTCTCTGCATCATTAACTGTTCTCTCTACTGGATCTTGAGCCCTTACCATTCAGGCATTTGTCCCTAATGGCCATAGAAGTCAGTAATGACCTCTCTGTTATCAAATTGTGTGATCTGTTCTCAGACCTCATCCTACTTGACCCATCATTGGCATCTGACACCGTTCATCCTTCCACCCTGTTGACGCACTTTCGTCTCTGGTTTCTGAATCACTGTTCTCGCCATTCTCTGAATGTTCTAAATACTTCACTGGCTGATACTTCTCTGTGTCCATTGCTGGTTCTTATTCAGCTCCTTGACCGCTAAACAGTGACCAGTGTTTCCAACTAGC
GAGCTTAGCTTGCTGAGATGAAAGGGATTTCTTTTTCTTCTCAAGGAGTTGACACAATGGAAGCTGGAGGCATTTCCCAACACTGTGGTCAATGCTACAGTCGGGGAACAAGCAAGTCTCCCCCAAAACAGGGATCGGAGTTTTTAAGGATAATTTGGCGAGTAGGAGCTCGGGAAGTGGGGAGTGCTGACTGGTTGGGTTGGAGATGGAATGATAGGGGGTTGAAGTGAGTTTTTCTTGCTGTCTTCTGTTCCTAGGTGGGATTGCAAAACTTGTTGAGCCAGATTACCGGTCTGGGTGAAAAAGCAGAGTGGCATTCTTCCTGGAGGAGCTGGCTGAAGATCTGTAGAGGGCCCATGTGCCACGTTCAGAGCACTGTTGGGCTGTGAGGTGCCAGGCATGCCCTGCCTCCTACGTGGGCCCCTATGGCCTGGCCTTGAAACCGCCACTGCAAAATTATAACCGAGACAATGAAAGAGATCTGACCTAACCAACTCCATCTTGCTTCTAACCTCCAAGCTGTCCTTGTTCATTCCTGAGCGTAGGCTGAACTAACCTTGGGAAGGAATGAGTTTATAGTTTAACTTCAAAACAAAAATAGCCCTTTCCCGGGAAAACAACAACAACAACAACAAAAAACAACCTCTTCTTGCCTGGGACCAGTTGGCCTTTGGAGGACTAACAAATTAGCTATAAGATTAGAAATTACAGTTTAGAGGCCATACAGCCTTTGGTTGCAAGAGTCTGAACGTCCCCCAAATTGTTCCTGGGAATAACATCACTGTTGTAAAACCTACCAACACCCAGACTGGTAATCTGGCTCAACTAGTTCTGCAATCCCATTCAGGAACAGAAGACAGCAAGAAAAACTCACTTCGGCCCCCTATCAGTCCATCTCCAACCCGACCAATCATGCACCTCCCACTTCCCGAGCTTCTACTCGCCAAATTATCCTTAAAAATTCCGATCCGTTTTTGGGGAGACCGATTTGGCTAATAAAACTCCCTTTCCAACACACCCGGCTCTGCGTGAATTACTCTCTCTCTATTGCAATTTCCGTCTTGATAAATCAGCTGTCTAGTCAGCGGGCTGTAACCTTGGGCGGTTACAGCCTGGCCTGTCCCATCCCATCCAATAGTTCCCATCTCTTCTCAGCTCTCTCTGTAGTTTCTCTTCCTCCGCCTGCCTTTTAAGTTAGTGTTTCCCAGGACAGAGGTGACTCAGTTGTATCCAGACCGCTCTGTGACTGAACACCCACTTTCTTTTCCTTTTCCAAAAAATATATGTAACATACATGTCAACTAGGAACAAAACAGTATCTCAGGAATCCACCATCCAGTTAAAAATGGACCCTTACCCTTACCGTGCCCCTGCAGAGACCCCAATACAGCGCATTTCCCTCATTCTTTTGCTTTTCTCAAGTTTTACCACGGCCTCGTGGCCACAAGTGACAAAAGAGACAAGTGGAGGCAGCTGAGCCGGCCTTTAGGTTTCTGTACACAGGGAGATTTCCCATGGCTGGCATTTATGGAAACAACCGCTGGTATGTGAAAAACAGGTCCGTCACCGCCGTCACGACGGCCAGAGATTATACCCGCCGAGATGCCCGCGGCCCAGGGCCTACAATTTCCTCCGGCCAGCTCCTTTGGCCGCGCAAGCGCAGTGGGGCCGGCGGGAAGCGTAGGCGTGTGACGTCATCAGGCGGCGCGGGCCAGCCAGGTGCACGTGACTAAGGCCTTGGGCGCGGCAGGTGGTAGCCTTCCCGCCCTTCTGGCCTCTCCATCCCCTGCTGCGGGGGACCGCGCAAGCGCAGTGAGTACTGCACGTTGTCGCGGGCCAGTAACGTCATCAGACGTGTGTGTGTCCCTGCGGCGCTAAGAAGGGGAGACTGAGGCTGAGGCTGGGGAACATCGGGCAGCATGAGCGGCTGCGGGCTCTTCCTGCGCACCACGGCTGCGGCTCGTGCCTGCCGGGGTCTGGTGGTCTCTACCGCGAACCGGCGGCTACTGCGCACCAGCCCGCCTGTACGAGCTTTCGCCAAAGAGCTTATCCTAGGCAAAATCAAGAAGGTAACGCGAGCCCTGGGCGAACCCTTGCTGTCTGGCTCCCGCTTTTCACCCTCAGCTGCAAGACTGGTGTTGAACTTTGTGAGATTCCCCAAACCTGCCAGAGAGATACACCCTGCGGCCGAGGCGTGTTAACACTCCGGATTCCTGAGTTCCAGGAAAACCTTCCCAGAGAAAGGGTGAGACATTTCCAAGACGGGGGACCCTTGGAAATGTGGTGGTGACGTGTTCCAGCTAAATTTTGTCAGGGGAATTCGGAAAACTCTAGGCTAGGTAATTAACAAAGCAGCCTTCATCTCAGCTGGTCTGGTCTGGAAATGTGCGGGGCTTCCTCTCTGATTCCTAAACAGCTTACACCATGTCCCTCCTCAGTCACCTTCCAGCGCCCTGGGGCTTCCTTCCCCAGGTGAGCCCAGCGCCTCTCCCTGCCATTGAGGTTCCTCAGAAATCTGGCTCCAAGATGCTTCCCAAGGGTGGCACAACCCAGCCAATAGTAACAGTTTGGTTATAAAACACTCATTGTCTTCTTAGAGTTGGAAGACTTGGGTTTGGTCTTGGCTCGTTGACTTTGAAACTCAGTTGTTTTTTTTGAGACAGAGTCGCGCTCTTGTCGCCCAGGCTGGAGTGCTCACTGCAACCTCCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCCTGCCCGGCTTTTTTTTTTTTTGTATTTTTAGCAGAGACGGGGTTTCACCATGTTGGCCAAGCTGGTCTAGAACTGACCTCGGGTGATCCGCCCACCTCGGCCTCCCACAGTGCTGGGATTACAGGGGTGAGCCACCGCGCCCGGCCAAGACTCAGTTCTTTCAGCCTTAAAATGGAGATAGTGTTGTGTCTCCTTCACAGATGTGTTGTAGAGCCCCAGTGAGATAAACGGTGCATGGAGAGTCTTCTTAAACTGTAGAGTACTGTGCAGCAGAAGAGAGAGCTGGCTTCAACACTTAGTCTTGTGACCTTGGAGCTGACGGCTGCACCTCCCTGTGCCTCAGTGCATTCATCTACAAAATAGGAATAAACACATTTCTTGCTCTTTCCTTTGTATTTCATTTTATCTTCTAAGGAAACCAACAGTATACTTGCTATTTCGTCGAGGTGCCCTACTTTGAACTTGGCTGAATGTTGGCTGATCCTGTATCACAGAAGTTATTCCCTGGCTTCTCTTTGGAACGTTCCTCTGAGGTTGTCAGGCTGATACCTTTATAGCAAGCAACTTTACAGATGAAGAAGCTAAGACTCAGACTAAAAGCAGTTTGCCCAGCTAGAAAGTGCGGAGCTATGTCTTGAACATATTGGAAAACCTTTTACCCAGGACCTGGGGCAGTGTGGTGCTCTATCCTGGGACTTCCTGCTATCCAGCAGCATGGTGAAGAAAGAACACAGATCTTTCAGATCTGTTTCCATCTTTAAACCTCTGGCACTACCTGCCCTGCCCTGCCTTTACTCTCAGCTGTCAGCTTTGCTTCCCATTCCACTGGGAAAATCCATGCAGTCGGATGAGAAGTTCACAGGCACAGTTACCCCCTCCCGCTGCATATGTGCCGGTATTATCTACATTCTGTTACTGTGAACTGTCTGCTCCTGGCAAAACCAACCTCTCATTAGACTCCAGGTCTTCTCACCTACTCAAGGGTAATTCTTTCCTTTCTCTGCATCATTAACTGTTCTCTCTACTGGATCTTGAGCCCTTACCATTCAGGCATTTGTCCCTAATGGCCATAGAAGTCAGTAATGACCTCTCTGTTATCAAATTGTGTGATCTGTTCTCAGACCTCATCCTACTTGACCCATCATTGGCATCTGACACCGTTCATCCTTCCACCCTGTTGACGCACTTTCGTCTCTGGTTTCTGAATCACTGTTCTCGCCATTCTCTGAATGTTCTAAATACTTCACTGGCTGATACTTCTCTGTGTCCATTGCTGGTTCTTATTCAGCTCCTTGACCGCTAAACAGTGACCAGTGTTTCCAACTAGC
Task1_train_7510
This gene mutation involves ACAD9 (acyl-CoA dehydrogenase family member 9) on Chromosome 3. Is it associated with any clinical condition, or is it benign?
Pathogenic; Acyl-CoA dehydrogenase 9 deficiency
TCTTGACCTCGTGAACCACCTGCCTCAGCCTCATGTTCTATTAATAGCAGCAGAGTTGAGGAGGTGAGACAGACATCCTGCAGCTTGGAAAGCTGAATATGTTATCTGACCCTTCATTTTAAAAGTTTGCTGACCTCTTACAAGTACTAAAACCTCCATTTTCAGGCCCTCAAAAGCATTCATATTTATTCCCAGTATTCTCCCTTGACCACATCTTTCTGCATCTGCAGTGGGAGCGATGCAGCCTCAATCCGGAGCAGAGCCACACTAAGTGAAGACAAGAAGCACTACATCCTCAATGGCTCCAAGGTAGGGTTCCTTCCCCATGGCCACATTAGGGTCTCAGTCACAACCTTCACTGCCACTGAGTGAGCACTCTCCACACACCAGGGATTGTACCTGCTGCTGTAGCACCGACTACCTTCTTGAGCTGCTTTTATGTGTTTGTTTTTAATTTTTTTTAGTTTTTTTTATTTGCGATGGAGTCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTAATCTCAGCTCACTGAAACTTCTGCCTCCCAGGTTTCCAATGATTCTCCTGCCTTAGCCTCCTGGGTAGCTGGGATTAGAGGTGCGTGTCACCACTCCTGGCTAATTTTTGTATTTTCAGTAGAGATGGAGTTTCACCATGTTGTCCAGTCAGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGAGTTTACAGGCAATGAGCCACTGTGCCCGGCTTGTAAACCCAAAAAATCTTTAAATTTTTTGTTACACAAAGTTTCAGACATATTCTGTGTGCCTGGCTGGCCCTAACTCCGGCAGTCACCTGCTTATGGCCACTGTGCCTCTTCCAGCAGCATCGCCACCTCCAGATCGCATGGTAACAATCTCAGCATGCCTCTCTAAAAGACAGGAGTTTTTTTTGTTTGTTTTTGTTTTTTAATAAACACAAAGCCGTAATACCCTTATCACATTTTAAAAATTGATAATTTCTCTTTTCTTTTGAGACAGGGTCCCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCAACTTCCTGGGCTCAGGTGATTCTCCTACCTCAACCTCCCAAGCAGCTGGGAGTACAGGCACACAGCTAACTCTTTGTATTTTTTTTTTGGTAGAGATGGGTTTTCACCGTGTTGCCCAGGTTGGTCTCAAACTCCGGGGCTCAAGTGGTCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCTAATAATTTCTTACTTCTATCAGCATTCAAATATCCCTGATTGCCTCATACCTTTTTTTGGTTTAACTGTTTGCTTGAATTAAGATCCACACAAGTCCCATCTGTTGCTGTTTGTTAAGGAGTCTGTTTCTGCCTCTGTCTCCCTCTGTTTCCTTTCCTCCTCCTCACCACCCTCCCGCCTTTTTTCATTTCTTTGTAGAATTAACAAATAAATGTTGTGTGTATTTACATCTACAACATGATGTTTTTATATATGTATACCTTAAGAAATGATTAAACCCTTTCTTTCTTGAAGAAATGCAGTTGTCTGGCGGTGGAGCCTGAGCTGTCTGACAACTTTGGGTGTTCTTTCCCCCGCCCCCGCCTCCACCTGGCCATCCATGTCCCTTGGGAAAATCCTTGCTCTGGGGAAAGTGGGCTGAGCCCTGTCCTCTATTCACTCATGCTTGGTTGGCTTCTGCAGAGCCAAGGACCCTGCATGTCTGGCCTGAGGTCTGACTGGCAGCTGGAGCTTGATGGACAAAGACAGAGCTGAGGTGGGTCACATAGGGGTTTGGTTTTCTCCAAAGTCCATCTTTCTGTCCTCAGGTCTGGATTACTAATGGAGGACTGGCCAATATTTTTACTGTGTTTGCAAAGACTGAGGTCGTTGATTCTGATGGATCAGTGAAAGACAAAATCACAGCATTCATAGTAGAAAGAGACTTTGGTGGAGTCACTAATGGGAAACCCGAAGATAAATTAGGCATTCGGGGCTCCAACAGTAAGTAGCTCCTGTGCGCGCGTGCGCGTGTGTGTGTGTAAGGGGGAGACTGGCCTTTGACGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAAGGGGGAGACTGGCCCTTGACTCTGTCCAAATAGCAAGATAAAATGAGATTTAAACACTTTCAGTTTTTGTTAAGCATTTTAAAAAGATCAAATTAAGAATGCCACTTGGGCTTTGTCTTTGTTCCTGCAGCTGAGTGCTGCTCACTTGAAGGCCTGCTGGTCATCCCCTGCTGTAGCTGCCCTAGCAGACACACCACCTTAGAGCTCAGCTTACAGTCCCCAGCCTTTAGTTGTCTCAGTCTGCAGTGCCTGGCAGCCTGCTTCAGGCTGTGAGTTGGGTTCAGGTCCATCTGGGTTCAGGTCCATCTGGAGGCTTGTTCTTAGAGCAGATCATAAGCACCTAAGGGGCCAAGCCAAGCCATATAAGTACTATTTTTGCCGTGGGAGACATAGTCTCCCTCTGTCACCCAGCCTGGAATGCAGTGCTGTGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCGAGTGATTCTCCTGTCTCAGCCTCCCAAGTAATTGGGACTACAGGCGTGCACCACCACACCTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTCAACATGTTGCCCAGACTTGTCTTGAACTCCTGAGCTCAGGCAGTCTACCTGCCTCAGCCTCCCAAAGTGCTAGGATTACACGTGTGAGTTACCATACCTGGCCACTTTTTTTTGGTTTGTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACTATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGCTGCCTGCCACCACGTCCGGCTAATTTTTTCTATTTTTTAGTGGAGATGGGGTTTCACCATGTTAGCCAGGATGGCCTCGATCTCCTGACCTCGTGATCCGCTCACCTCGGCCTCCCAAAGTGCGTGAGCCACCGCACCCGGCCTTTTTTTTTTTTTTTTTAAATAGAGATGAGGTCTTGCTATGTTGTCCTGGCTGGTCTCGAACTCCTGGGTTCAAGTGATCTTCCTGCCTCTGCCTCCCAAAATGCTGGGATTATAGGCATGAGCCACCATACCCGACTGACCCTAAAACACATTTAAGGTCTCTGTTCATGTTGGGTCAGCTCTTTGTATTGGCCACAGGAAGTCACATGGTCATACCTAGCAGGCAGGGAAAGGGAGGGAGGTCCATCCCTCCTCACAGTGGGAGAGTGCTACAGTTAGATTGCAGGGGTGTGATTGTGTTAGAGTTAAGAATTGAGACCAGTGGTCCCAGTCTACCCTAAGGCTTCAGGAAATGCTGTTCTTTCCCTCACTTTGCTTGTTCTGGCTCTTTATATGCCTGGTTCTTTTCATTCTTAAACTTCTGCTAAATGTCACCTTAGAAAAGTCTGACATAGTCCTTAATAAAAATATTATTATCCACCCCCTTGCCAACCTCCATTTCTCTTTATCGTGATGCCCTATTTATTTCATCCATAGCACTGATCACAATATTACATTGTTTTGTTTATAGCTTTTGTCTCCCAAATCAAAGTATGAGCCTCCACAAAGATAGGAACTTTGTCTTTCTATACTGTCCTACCAAACATTGGATGGATGGATGGATGGATGGATGGATGAATTGCCTGCTTGCAGGTCAGATGCAGAGTGGTTTGCATTGTCAGATGATATCTTAAATTTCATGTGTTTCAGCTTGTGAAGTCCATTTTGAAAACACCAAGATACCTGTGGAAAACATCCTTGGAGAGGTCGGAGATGGGTTTAAGGTGAGTTGCCAGCCACAGCCCCTTGTACCAGGTAGTGTCATGAGTGCAGTTTGTCGCCCCCAGCTTTTGCCCTATCCCTGCTCGTAGCAGAGTAGCCTGTGCATGGCAGGTGACTTTGCATGGTTATCTGTTGGGAAATTGGCAAAAT
TCTTGACCTCGTGAACCACCTGCCTCAGCCTCATGTTCTATTAATAGCAGCAGAGTTGAGGAGGTGAGACAGACATCCTGCAGCTTGGAAAGCTGAATATGTTATCTGACCCTTCATTTTAAAAGTTTGCTGACCTCTTACAAGTACTAAAACCTCCATTTTCAGGCCCTCAAAAGCATTCATATTTATTCCCAGTATTCTCCCTTGACCACATCTTTCTGCATCTGCAGTGGGAGCGATGCAGCCTCAATCCGGAGCAGAGCCACACTAAGTGAAGACAAGAAGCACTACATCCTCAATGGCTCCAAGGTAGGGTTCCTTCCCCATGGCCACATTAGGGTCTCAGTCACAACCTTCACTGCCACTGAGTGAGCACTCTCCACACACCAGGGATTGTACCTGCTGCTGTAGCACCGACTACCTTCTTGAGCTGCTTTTATGTGTTTGTTTTTAATTTTTTTTAGTTTTTTTTATTTGCGATGGAGTCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTAATCTCAGCTCACTGAAACTTCTGCCTCCCAGGTTTCCAATGATTCTCCTGCCTTAGCCTCCTGGGTAGCTGGGATTAGAGGTGCGTGTCACCACTCCTGGCTAATTTTTGTATTTTCAGTAGAGATGGAGTTTCACCATGTTGTCCAGTCAGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGAGTTTACAGGCAATGAGCCACTGTGCCCGGCTTGTAAACCCAAAAAATCTTTAAATTTTTTGTTACACAAAGTTTCAGACATATTCTGTGTGCCTGGCTGGCCCTAACTCCGGCAGTCACCTGCTTATGGCCACTGTGCCTCTTCCAGCAGCATCGCCACCTCCAGATCGCATGGTAACAATCTCAGCATGCCTCTCTAAAAGACAGGAGTTTTTTTTGTTTGTTTTTGTTTTTTAATAAACACAAAGCCGTAATACCCTTATCACATTTTAAAAATTGATAATTTCTCTTTTCTTTTGAGACAGGGTCCCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCAACTTCCTGGGCTCAGGTGATTCTCCTACCTCAACCTCCCAAGCAGCTGGGAGTACAGGCACACAGCTAACTCTTTGTATTTTTTTTTTGGTAGAGATGGGTTTTCACCGTGTTGCCCAGGTTGGTCTCAAACTCCGGGGCTCAAGTGGTCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCTAATAATTTCTTACTTCTATCAGCATTCAAATATCCCTGATTGCCTCATACCTTTTTTTGGTTTAACTGTTTGCTTGAATTAAGATCCACACAAGTCCCATCTGTTGCTGTTTGTTAAGGAGTCTGTTTCTGCCTCTGTCTCCCTCTGTTTCCTTTCCTCCTCCTCACCACCCTCCCGCCTTTTTTCATTTCTTTGTAGAATTAACAAATAAATGTTGTGTGTATTTACATCTACAACATGATGTTTTTATATATGTATACCTTAAGAAATGATTAAACCCTTTCTTTCTTGAAGAAATGCAGTTGTCTGGCGGTGGAGCCTGAGCTGTCTGACAACTTTGGGTGTTCTTTCCCCCGCCCCCGCCTCCACCTGGCCATCCATGTCCCTTGGGAAAATCCTTGCTCTGGGGAAAGTGGGCTGAGCCCTGTCCTCTATTCACTCATGCTTGGTTGGCTTCTGCAGAGCCAAGGACCCTGCATGTCTGGCCTGAGGTCTGACTGGCAGCTGGAGCTTGATGGACAAAGACAGAGCTGAGGTGGGTCACATAGGGGTTTGGTTTTCTCCAAAGTCCATCTTTCTGTCCTCAGGTCTGGATTACTAATGGAGGACTGGCCAATATTTTTACTGTGTTTGCAAAGACTGAGGTCGTTGATTCTGATGGATCAGTGAAAGACAAAATCACAGCATTCATAGTAGAAAGAGACTTTGGTGGAGTCACTAATGGGAAACCCGAAGATAAATTAGGCATTCAGGGCTCCAACAGTAAGTAGCTCCTGTGCGCGCGTGCGCGTGTGTGTGTGTAAGGGGGAGACTGGCCTTTGACGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAAGGGGGAGACTGGCCCTTGACTCTGTCCAAATAGCAAGATAAAATGAGATTTAAACACTTTCAGTTTTTGTTAAGCATTTTAAAAAGATCAAATTAAGAATGCCACTTGGGCTTTGTCTTTGTTCCTGCAGCTGAGTGCTGCTCACTTGAAGGCCTGCTGGTCATCCCCTGCTGTAGCTGCCCTAGCAGACACACCACCTTAGAGCTCAGCTTACAGTCCCCAGCCTTTAGTTGTCTCAGTCTGCAGTGCCTGGCAGCCTGCTTCAGGCTGTGAGTTGGGTTCAGGTCCATCTGGGTTCAGGTCCATCTGGAGGCTTGTTCTTAGAGCAGATCATAAGCACCTAAGGGGCCAAGCCAAGCCATATAAGTACTATTTTTGCCGTGGGAGACATAGTCTCCCTCTGTCACCCAGCCTGGAATGCAGTGCTGTGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCGAGTGATTCTCCTGTCTCAGCCTCCCAAGTAATTGGGACTACAGGCGTGCACCACCACACCTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTCAACATGTTGCCCAGACTTGTCTTGAACTCCTGAGCTCAGGCAGTCTACCTGCCTCAGCCTCCCAAAGTGCTAGGATTACACGTGTGAGTTACCATACCTGGCCACTTTTTTTTGGTTTGTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACTATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGCTGCCTGCCACCACGTCCGGCTAATTTTTTCTATTTTTTAGTGGAGATGGGGTTTCACCATGTTAGCCAGGATGGCCTCGATCTCCTGACCTCGTGATCCGCTCACCTCGGCCTCCCAAAGTGCGTGAGCCACCGCACCCGGCCTTTTTTTTTTTTTTTTTAAATAGAGATGAGGTCTTGCTATGTTGTCCTGGCTGGTCTCGAACTCCTGGGTTCAAGTGATCTTCCTGCCTCTGCCTCCCAAAATGCTGGGATTATAGGCATGAGCCACCATACCCGACTGACCCTAAAACACATTTAAGGTCTCTGTTCATGTTGGGTCAGCTCTTTGTATTGGCCACAGGAAGTCACATGGTCATACCTAGCAGGCAGGGAAAGGGAGGGAGGTCCATCCCTCCTCACAGTGGGAGAGTGCTACAGTTAGATTGCAGGGGTGTGATTGTGTTAGAGTTAAGAATTGAGACCAGTGGTCCCAGTCTACCCTAAGGCTTCAGGAAATGCTGTTCTTTCCCTCACTTTGCTTGTTCTGGCTCTTTATATGCCTGGTTCTTTTCATTCTTAAACTTCTGCTAAATGTCACCTTAGAAAAGTCTGACATAGTCCTTAATAAAAATATTATTATCCACCCCCTTGCCAACCTCCATTTCTCTTTATCGTGATGCCCTATTTATTTCATCCATAGCACTGATCACAATATTACATTGTTTTGTTTATAGCTTTTGTCTCCCAAATCAAAGTATGAGCCTCCACAAAGATAGGAACTTTGTCTTTCTATACTGTCCTACCAAACATTGGATGGATGGATGGATGGATGGATGGATGAATTGCCTGCTTGCAGGTCAGATGCAGAGTGGTTTGCATTGTCAGATGATATCTTAAATTTCATGTGTTTCAGCTTGTGAAGTCCATTTTGAAAACACCAAGATACCTGTGGAAAACATCCTTGGAGAGGTCGGAGATGGGTTTAAGGTGAGTTGCCAGCCACAGCCCCTTGTACCAGGTAGTGTCATGAGTGCAGTTTGTCGCCCCCAGCTTTTGCCCTATCCCTGCTCGTAGCAGAGTAGCCTGTGCATGGCAGGTGACTTTGCATGGTTATCTGTTGGGAAATTGGCAAAAT
Task1_train_7511
This variant affects the gene ACAD9 (acyl-CoA dehydrogenase family member 9) found on Chromosome 3. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Acyl-CoA dehydrogenase 9 deficiency
TTTCACTGTGTGACATGAACGGTGTGTTCTTTTGATGTCTCTGTACTGGTGACTTCTGTGGTGATTTGGGAAGAAGACTAGTTAAGGCTTTATTTGACACGGGTCACTGGGCTTGCTTCTCTTGGGCATTGAGGCTTCTGACTTAATTACTTTCTCTCCTGTTTCACAGATTTGGCTCTCAGCACATGCAAATTGTTTCTTGTGTTTTTTCTGAACACTCCAGGAGAAATTTGCACTGATGGCTCAGAAGGCTTACGTCATGGAGAGTATGACCTACCTCACAGCAGGGATGCTGGACCAACCTGGCTTTCCCGACTGCTCCATCGAGGCAGCCATGGTGAAGGTAACCCTGGCATAGCCAGAGAGCTGGCGCTGGAGGGAGGCTTGGGAAATCTCCCTCACTGTGACCTTTCAAGCCCATGCTGTTGCCTGTCATCTTCCTCCTGTCATTGATCCAGTATTTATGATGCACTTGCCCTGTGTAGCACTCCAGGGATAGGCAGGCAGCGGGGAGCAGCAGTAGGGAAGTGTCCAGTGGGCCAGTGGATCAGTAGTTTATAGCAGAAGGAGACCGTTATGATAATATCCTTTTAGAGTAATAACATTGCATCTGGCTTGTGTGAGAAAGACTTCTTTTTTCCTTAGTTTATGGCCTTCCTACTTTCTGGTATCAAAACTTTATCTTAAAAACTAAGCATATGGCAGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGATGGATCACCTGAGGTCTGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAACACAAAAAATTAGCCGGGCATAGTGGCGGGCACCTGTAACCCCAGCTACTTGGGAAGCTGAGGCAAGAGAATCACTTGAACCCGGTGGGGGCGGAGGTTGCAGTGAGCCGAGGTTGTGCCATTGCACACCAGCCTAGGCAACAAGAGCAAAACTCCATCTCAAAAAAAAACAAAAAACAAAAAACATGTATGAGCCTGGGCAACATGGCGAAACCCCATCTCTACAAAAAATACAAAAATTAGCTGGCATGGTGGCACACGCCTATAGTCCCTGCTACCTGGGAGGCTGAGGTGGGAAGAGCATCTTATTTGGTTAAGGTAGATACTAGAATTTGCTTTTGTTTTGTTGAGGGTGGAGGGTGTCATTTTTTAGCTGTAATAAAAAAGATGGCCACACTTGGGGGGACCCTACTTTGTGCCCCCCACAATTGTTTTTAAGCTGGTCTCTGGAATTGAGCTCTTGAGAGAAATAGTGAGAGGTATGGCAGCTTACAGAAGCAAACATCCTGGTGTCGGCAGGAGAGTCTACCTAAAAGGTTGGGATCCTGAAGTGGCAAGGTCCCTAAAAAAATAAAAAATTAAAAACAAAAAGGCTGGGCATCTTGGACCGTGTTTGAGTCTTTTCTAGGTGCAGTCTGTGTACTGGGTGCATTTGCATGTGTTTTATCATCTCGTTTTCTTGTCACCCTTGAACAGTGACCACAGACATTAGTTTGCTGTAGGCCAGCCTCTTCCAGATGCTAAGCCTAGGGCTAAACATGGCAGTATGTTTGCCCCCAAGGCACTTATAGTGTGCACAGACAGAAAGAAATCACGGCCGCTGGGGCTTGGCAGGAACAGGTCAGGTTTTCTCGGGAAGGGGAGATCTTAGGTGGGTTTTAAAGGAACAGGAGCTCAGCCAGGTGCAGATAGGGTGAAGGCAGGCCCAGAGGTACAGAAGGTCATGGTGGGGTAGGGAACACAAGCTGGCCAGTGTGGTCACGGAAGGCAAAGGACTTGACCACATCACCCCTCAAGTTCCTCCCTGGCCGATCTCCTCCCCAAGCCCGTGTGCCTCCCATGCCTCCCCAGCCACCCAGCTCCCTGCAGCGTAGGTCCTCCTTTTGGAAAGGATTCAGTGTGACACCCCACAGGTGTTCAGCTCCGAGGCCGCCTGGCAGTGTGTGAGTGAGGCGCTGCAGATCCTCGGGGGCTTGGGCTACACAAGGGACTATCCGTACGAGCGCATACTGCGTGACACCCGCATCCTCCTCATCTTCGAGGTGAGTGGCCCCGCCACCAGCTAAGCTGTGCTCCACCCCCACCCTGCCTGGTCCTAAAGATGCTGCTCAGGGCCTCGCAGAGGCCCCCGCAGCCCAGGGCTGGGTCGCATGCTCTCAGGGGCTCTCCTAGCCCTGGCACGTCTCCTTCCCGACTGCTGCCCTCCATGAAGTCACAAGCCTGAGGAGTCAGTTCAGTTAGCATGTGCCAGGTGGCAGGGGAGGGAACTGGGGCCACAGAGATGACTTCGGATGCTGTGTTCTGATTGTGCAGCAGGGCCGACCAAGGGAGATGACAGAGTGTAAAGAGGCAGGGAGCGGGCATCCTCCAGAGGCAGCCAGAGTTTTGTGAAGCATGCGCTCCTGGCCCCTAGGGGCAGAAAGAAAGGGCTTCAACCAGGGCCGGGTGGAGGGCAGTTTGTCCCTAAGGGCAGGGTAATAGAGCGCGCCAGGCCCAGATGGGACTGATCTGCTGGCACAAGGTGAATGAAGAGAGAGTGAAGGGCTTTCTGGGAGCAGCAGTCAGCCCTGCTAGGTGGGCTGGGGCAGGCAGTGGGTTTGGGGGTGTTGAAGAAGGTATATGGGAAGGCTAAAAAAGTAGCCAGACTGTGGAGGACCTTGATTGACAGCAGAGGAATTTGGAAGCCACAAAACGTCTTTAAGCAGGGCATTATTTGGTTGTATCTGTGTTGTGGGAAATGCCCCCAGGGGCTCAGCAAGTGCTGGACATGTGGACGGGGCTCATGTGGAGAGTGAGTTGCAGGGATGAGGCCGGAGACCAGGGGCTCTCCTGCTGGGAGGGAGGGGCTGGACCTAAGAGAGCACAGCAGGATGAGTGGGATATGATGGTGGGCATGGGTATACAGGAGGCAGGCCTGAGACAGGGAGAGGGTTTGGGCCTGAGCAGCAGGTCTGGTGATGAGAGGCATCATCAGCCTCTGGGAGTGTAGTCTTGTCTCCTGGGCCGTCCTGCCCAGTGGGAGGCCTCCTTGGCTGCTTTTGTTCCTGGCCTACCCATTGGGTTCCAGCCATCTCCACTGTTGCAGTGGACATACGGGGCAAGGGCCAGCCTGAGGGCACTGGAGTGGTCTCAGCCCTGCAAAGGGTCTTCTCCAAAGGCCCTTCCCTTAGCCTGGGAGGGTTGGGGTTCTCCAGGGCTGGGGTGGTCAGCAGGGTTCAGGAAGCCCTCAAGGCCTTGGAAGAACACAGGGCTCTCGATGTAGGGTGAGAGCTCCTGTCTGGAGCCTGCTCGGAGCTGGGTGGTCCTGCCAGGAGGCCCCTGCAGTCCCCCCTTTTCCTGTAGGGAGTCCTGCTGTCCGTGATGTCAGCCTGACTGCAGGGGACAGTCCTCAGTCCCTAGTGCTGGCTGTGTAGCCTGGGTCAGGCCCCTGCACCTGACACACAGTACCATTGTGCAGAGTGGGCAGAAGCCCACTGGCCTCTCACTGATCAGAATCATGGGTTGGGGGAGTGGGGAGCATGTGGCCCTCTGGGTGTGTTGACACCTGGCACTGAGGAGGTTCTAGCTGCCACTCAGCAATTTCTGGCTTCCGTGAGGAATCTGGCCTCCACCTGGAGCCAGCAATGTCTGTCTGGCACTGGCTGAGCCCCAGGCATCAGCACCCCTCACCACCCGGGGAAAGCTGGTTTCCATTTTACAGAGGACCTGGAGACTTGGAGAAAGGCTTGACACACGTGAGGCTGGTCACGGAGAGGTGGGGGGGTCCCAGTGGGAGCTCATGGCCATCTGGTCACCTCCCTCCTCATCCCTGTGCACTCCCTGAGCCCTGGCCAGAGCCCTGCTCCCAGCTACTTCAGGAGCAGTGGCTTTTGTGGCAATGGGCAAGCAGGCAGTGGCCGGCTCTACCCAGCACACGTGGCACTACCATGGCTGCCTGGCCGGGGGGCAGCCTTTGACCTCTACACTACTGACCACAGGGAACCAATGAGATTCTCCGGATGTACATCGCCCTGACGGGTCTGCAGCATGCCGGCCGCATCCTGACTACCAG
TTTCACTGTGTGACATGAACGGTGTGTTCTTTTGATGTCTCTGTACTGGTGACTTCTGTGGTGATTTGGGAAGAAGACTAGTTAAGGCTTTATTTGACACGGGTCACTGGGCTTGCTTCTCTTGGGCATTGAGGCTTCTGACTTAATTACTTTCTCTCCTGTTTCACAGATTTGGCTCTCAGCACATGCAAATTGTTTCTTGTGTTTTTTCTGAACACTCCAGGAGAAATTTGCACTGATGGCTCAGAAGGCTTACGTCATGGAGAGTATGACCTACCTCACAGCAGGGATGCTGGACCAACCTGGCTTTCCCGACTGCTCCATCGAGGCAGCCATGGTGAAGGTAACCCTGGCATAGCCAGAGAGCTGGCGCTGGAGGGAGGCTTGGGAAATCTCCCTCACTGTGACCTTTCAAGCCCATGCTGTTGCCTGTCATCTTCCTCCTGTCATTGATCCAGTATTTATGATGCACTTGCCCTGTGTAGCACTCCAGGGATAGGCAGGCAGCGGGGAGCAGCAGTAGGGAAGTGTCCAGTGGGCCAGTGGATCAGTAGTTTATAGCAGAAGGAGACCGTTATGATAATATCCTTTTAGAGTAATAACATTGCATCTGGCTTGTGTGAGAAAGACTTCTTTTTTCCTTAGTTTATGGCCTTCCTACTTTCTGGTATCAAAACTTTATCTTAAAAACTAAGCATATGGCAGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGATGGATCACCTGAGGTCTGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAACACAAAAAATTAGCCGGGCATAGTGGCGGGCACCTGTAACCCCAGCTACTTGGGAAGCTGAGGCAAGAGAATCACTTGAACCCGGTGGGGGCGGAGGTTGCAGTGAGCCGAGGTTGTGCCATTGCACACCAGCCTAGGCAACAAGAGCAAAACTCCATCTCAAAAAAAAACAAAAAACAAAAAACATGTATGAGCCTGGGCAACATGGCGAAACCCCATCTCTACAAAAAATACAAAAATTAGCTGGCATGGTGGCACACGCCTATAGTCCCTGCTACCTGGGAGGCTGAGGTGGGAAGAGCATCTTATTTGGTTAAGGTAGATACTAGAATTTGCTTTTGTTTTGTTGAGGGTGGAGGGTGTCATTTTTTAGCTGTAATAAAAAAGATGGCCACACTTGGGGGGACCCTACTTTGTGCCCCCCACAATTGTTTTTAAGCTGGTCTCTGGAATTGAGCTCTTGAGAGAAATAGTGAGAGGTATGGCAGCTTACAGAAGCAAACATCCTGGTGTCGGCAGGAGAGTCTACCTAAAAGGTTGGGATCCTGAAGTGGCAAGGTCCCTAAAAAAATAAAAAATTAAAAACAAAAAGGCTGGGCATCTTGGACCGTGTTTGAGTCTTTTCTAGGTGCAGTCTGTGTACTGGGTGCATTTGCATGTGTTTTATCATCTCGTTTTCTTGTCACCCTTGAACAGTGACCACAGACATTAGTTTGCTGTAGGCCAGCCTCTTCCAGATGCTAAGCCTAGGGCTAAACATGGCAGTATGTTTGCCCCCAAGGCACTTATAGTGTGCACAGACAGAAAGAAATCACGGCCGCTGGGGCTTGGCAGGAACAGGTCAGGTTTTCTCGGGAAGGGGAGATCTTAGGTGGGTTTTAAAGGAACAGGAGCTCAGCCAGGTGCAGATAGGGTGAAGGCAGGCCCAGAGGTACAGAAGGTCATGGTGGGGTAGGGAACACAAGCTGGCCAGTGTGGTCACGGAAGGCAAAGGACTTGACCACATCACCCCTCAAGTTCCTCCCTGGCCGATCTCCTCCCCAAGCCCGTGTGCCTCCCATGCCTCCCCAGCCACCCAGCTCCCTGCAGCGTAGGTCCTCCTTTTGGAAAGGATTCAGTGTGACACCCCACAGGTGTTCAGCTCCGAGGCCGCCTGGCAGTGTGTGAGTGAGGCGCTGCAGATCCTCGGGGGCTTGGGCTACACAAGGGACTATCCGTACGAGAGCATACTGCGTGACACCCGCATCCTCCTCATCTTCGAGGTGAGTGGCCCCGCCACCAGCTAAGCTGTGCTCCACCCCCACCCTGCCTGGTCCTAAAGATGCTGCTCAGGGCCTCGCAGAGGCCCCCGCAGCCCAGGGCTGGGTCGCATGCTCTCAGGGGCTCTCCTAGCCCTGGCACGTCTCCTTCCCGACTGCTGCCCTCCATGAAGTCACAAGCCTGAGGAGTCAGTTCAGTTAGCATGTGCCAGGTGGCAGGGGAGGGAACTGGGGCCACAGAGATGACTTCGGATGCTGTGTTCTGATTGTGCAGCAGGGCCGACCAAGGGAGATGACAGAGTGTAAAGAGGCAGGGAGCGGGCATCCTCCAGAGGCAGCCAGAGTTTTGTGAAGCATGCGCTCCTGGCCCCTAGGGGCAGAAAGAAAGGGCTTCAACCAGGGCCGGGTGGAGGGCAGTTTGTCCCTAAGGGCAGGGTAATAGAGCGCGCCAGGCCCAGATGGGACTGATCTGCTGGCACAAGGTGAATGAAGAGAGAGTGAAGGGCTTTCTGGGAGCAGCAGTCAGCCCTGCTAGGTGGGCTGGGGCAGGCAGTGGGTTTGGGGGTGTTGAAGAAGGTATATGGGAAGGCTAAAAAAGTAGCCAGACTGTGGAGGACCTTGATTGACAGCAGAGGAATTTGGAAGCCACAAAACGTCTTTAAGCAGGGCATTATTTGGTTGTATCTGTGTTGTGGGAAATGCCCCCAGGGGCTCAGCAAGTGCTGGACATGTGGACGGGGCTCATGTGGAGAGTGAGTTGCAGGGATGAGGCCGGAGACCAGGGGCTCTCCTGCTGGGAGGGAGGGGCTGGACCTAAGAGAGCACAGCAGGATGAGTGGGATATGATGGTGGGCATGGGTATACAGGAGGCAGGCCTGAGACAGGGAGAGGGTTTGGGCCTGAGCAGCAGGTCTGGTGATGAGAGGCATCATCAGCCTCTGGGAGTGTAGTCTTGTCTCCTGGGCCGTCCTGCCCAGTGGGAGGCCTCCTTGGCTGCTTTTGTTCCTGGCCTACCCATTGGGTTCCAGCCATCTCCACTGTTGCAGTGGACATACGGGGCAAGGGCCAGCCTGAGGGCACTGGAGTGGTCTCAGCCCTGCAAAGGGTCTTCTCCAAAGGCCCTTCCCTTAGCCTGGGAGGGTTGGGGTTCTCCAGGGCTGGGGTGGTCAGCAGGGTTCAGGAAGCCCTCAAGGCCTTGGAAGAACACAGGGCTCTCGATGTAGGGTGAGAGCTCCTGTCTGGAGCCTGCTCGGAGCTGGGTGGTCCTGCCAGGAGGCCCCTGCAGTCCCCCCTTTTCCTGTAGGGAGTCCTGCTGTCCGTGATGTCAGCCTGACTGCAGGGGACAGTCCTCAGTCCCTAGTGCTGGCTGTGTAGCCTGGGTCAGGCCCCTGCACCTGACACACAGTACCATTGTGCAGAGTGGGCAGAAGCCCACTGGCCTCTCACTGATCAGAATCATGGGTTGGGGGAGTGGGGAGCATGTGGCCCTCTGGGTGTGTTGACACCTGGCACTGAGGAGGTTCTAGCTGCCACTCAGCAATTTCTGGCTTCCGTGAGGAATCTGGCCTCCACCTGGAGCCAGCAATGTCTGTCTGGCACTGGCTGAGCCCCAGGCATCAGCACCCCTCACCACCCGGGGAAAGCTGGTTTCCATTTTACAGAGGACCTGGAGACTTGGAGAAAGGCTTGACACACGTGAGGCTGGTCACGGAGAGGTGGGGGGGTCCCAGTGGGAGCTCATGGCCATCTGGTCACCTCCCTCCTCATCCCTGTGCACTCCCTGAGCCCTGGCCAGAGCCCTGCTCCCAGCTACTTCAGGAGCAGTGGCTTTTGTGGCAATGGGCAAGCAGGCAGTGGCCGGCTCTACCCAGCACACGTGGCACTACCATGGCTGCCTGGCCGGGGGGCAGCCTTTGACCTCTACACTACTGACCACAGGGAACCAATGAGATTCTCCGGATGTACATCGCCCTGACGGGTCTGCAGCATGCCGGCCGCATCCTGACTACCAG
Task1_train_7512
This mutation is located in gene ACAD9 (acyl-CoA dehydrogenase family member 9) on Chromosome 3. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Mitochondrial complex I deficiency
TTTCACTGTGTGACATGAACGGTGTGTTCTTTTGATGTCTCTGTACTGGTGACTTCTGTGGTGATTTGGGAAGAAGACTAGTTAAGGCTTTATTTGACACGGGTCACTGGGCTTGCTTCTCTTGGGCATTGAGGCTTCTGACTTAATTACTTTCTCTCCTGTTTCACAGATTTGGCTCTCAGCACATGCAAATTGTTTCTTGTGTTTTTTCTGAACACTCCAGGAGAAATTTGCACTGATGGCTCAGAAGGCTTACGTCATGGAGAGTATGACCTACCTCACAGCAGGGATGCTGGACCAACCTGGCTTTCCCGACTGCTCCATCGAGGCAGCCATGGTGAAGGTAACCCTGGCATAGCCAGAGAGCTGGCGCTGGAGGGAGGCTTGGGAAATCTCCCTCACTGTGACCTTTCAAGCCCATGCTGTTGCCTGTCATCTTCCTCCTGTCATTGATCCAGTATTTATGATGCACTTGCCCTGTGTAGCACTCCAGGGATAGGCAGGCAGCGGGGAGCAGCAGTAGGGAAGTGTCCAGTGGGCCAGTGGATCAGTAGTTTATAGCAGAAGGAGACCGTTATGATAATATCCTTTTAGAGTAATAACATTGCATCTGGCTTGTGTGAGAAAGACTTCTTTTTTCCTTAGTTTATGGCCTTCCTACTTTCTGGTATCAAAACTTTATCTTAAAAACTAAGCATATGGCAGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGATGGATCACCTGAGGTCTGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAACACAAAAAATTAGCCGGGCATAGTGGCGGGCACCTGTAACCCCAGCTACTTGGGAAGCTGAGGCAAGAGAATCACTTGAACCCGGTGGGGGCGGAGGTTGCAGTGAGCCGAGGTTGTGCCATTGCACACCAGCCTAGGCAACAAGAGCAAAACTCCATCTCAAAAAAAAACAAAAAACAAAAAACATGTATGAGCCTGGGCAACATGGCGAAACCCCATCTCTACAAAAAATACAAAAATTAGCTGGCATGGTGGCACACGCCTATAGTCCCTGCTACCTGGGAGGCTGAGGTGGGAAGAGCATCTTATTTGGTTAAGGTAGATACTAGAATTTGCTTTTGTTTTGTTGAGGGTGGAGGGTGTCATTTTTTAGCTGTAATAAAAAAGATGGCCACACTTGGGGGGACCCTACTTTGTGCCCCCCACAATTGTTTTTAAGCTGGTCTCTGGAATTGAGCTCTTGAGAGAAATAGTGAGAGGTATGGCAGCTTACAGAAGCAAACATCCTGGTGTCGGCAGGAGAGTCTACCTAAAAGGTTGGGATCCTGAAGTGGCAAGGTCCCTAAAAAAATAAAAAATTAAAAACAAAAAGGCTGGGCATCTTGGACCGTGTTTGAGTCTTTTCTAGGTGCAGTCTGTGTACTGGGTGCATTTGCATGTGTTTTATCATCTCGTTTTCTTGTCACCCTTGAACAGTGACCACAGACATTAGTTTGCTGTAGGCCAGCCTCTTCCAGATGCTAAGCCTAGGGCTAAACATGGCAGTATGTTTGCCCCCAAGGCACTTATAGTGTGCACAGACAGAAAGAAATCACGGCCGCTGGGGCTTGGCAGGAACAGGTCAGGTTTTCTCGGGAAGGGGAGATCTTAGGTGGGTTTTAAAGGAACAGGAGCTCAGCCAGGTGCAGATAGGGTGAAGGCAGGCCCAGAGGTACAGAAGGTCATGGTGGGGTAGGGAACACAAGCTGGCCAGTGTGGTCACGGAAGGCAAAGGACTTGACCACATCACCCCTCAAGTTCCTCCCTGGCCGATCTCCTCCCCAAGCCCGTGTGCCTCCCATGCCTCCCCAGCCACCCAGCTCCCTGCAGCGTAGGTCCTCCTTTTGGAAAGGATTCAGTGTGACACCCCACAGGTGTTCAGCTCCGAGGCCGCCTGGCAGTGTGTGAGTGAGGCGCTGCAGATCCTCGGGGGCTTGGGCTACACAAGGGACTATCCGTACGAGCGCATACTGCGTGACACCCGCATCCTCCTCATCTTCGAGGTGAGTGGCCCCGCCACCAGCTAAGCTGTGCTCCACCCCCACCCTGCCTGGTCCTAAAGATGCTGCTCAGGGCCTCGCAGAGGCCCCCGCAGCCCAGGGCTGGGTCGCATGCTCTCAGGGGCTCTCCTAGCCCTGGCACGTCTCCTTCCCGACTGCTGCCCTCCATGAAGTCACAAGCCTGAGGAGTCAGTTCAGTTAGCATGTGCCAGGTGGCAGGGGAGGGAACTGGGGCCACAGAGATGACTTCGGATGCTGTGTTCTGATTGTGCAGCAGGGCCGACCAAGGGAGATGACAGAGTGTAAAGAGGCAGGGAGCGGGCATCCTCCAGAGGCAGCCAGAGTTTTGTGAAGCATGCGCTCCTGGCCCCTAGGGGCAGAAAGAAAGGGCTTCAACCAGGGCCGGGTGGAGGGCAGTTTGTCCCTAAGGGCAGGGTAATAGAGCGCGCCAGGCCCAGATGGGACTGATCTGCTGGCACAAGGTGAATGAAGAGAGAGTGAAGGGCTTTCTGGGAGCAGCAGTCAGCCCTGCTAGGTGGGCTGGGGCAGGCAGTGGGTTTGGGGGTGTTGAAGAAGGTATATGGGAAGGCTAAAAAAGTAGCCAGACTGTGGAGGACCTTGATTGACAGCAGAGGAATTTGGAAGCCACAAAACGTCTTTAAGCAGGGCATTATTTGGTTGTATCTGTGTTGTGGGAAATGCCCCCAGGGGCTCAGCAAGTGCTGGACATGTGGACGGGGCTCATGTGGAGAGTGAGTTGCAGGGATGAGGCCGGAGACCAGGGGCTCTCCTGCTGGGAGGGAGGGGCTGGACCTAAGAGAGCACAGCAGGATGAGTGGGATATGATGGTGGGCATGGGTATACAGGAGGCAGGCCTGAGACAGGGAGAGGGTTTGGGCCTGAGCAGCAGGTCTGGTGATGAGAGGCATCATCAGCCTCTGGGAGTGTAGTCTTGTCTCCTGGGCCGTCCTGCCCAGTGGGAGGCCTCCTTGGCTGCTTTTGTTCCTGGCCTACCCATTGGGTTCCAGCCATCTCCACTGTTGCAGTGGACATACGGGGCAAGGGCCAGCCTGAGGGCACTGGAGTGGTCTCAGCCCTGCAAAGGGTCTTCTCCAAAGGCCCTTCCCTTAGCCTGGGAGGGTTGGGGTTCTCCAGGGCTGGGGTGGTCAGCAGGGTTCAGGAAGCCCTCAAGGCCTTGGAAGAACACAGGGCTCTCGATGTAGGGTGAGAGCTCCTGTCTGGAGCCTGCTCGGAGCTGGGTGGTCCTGCCAGGAGGCCCCTGCAGTCCCCCCTTTTCCTGTAGGGAGTCCTGCTGTCCGTGATGTCAGCCTGACTGCAGGGGACAGTCCTCAGTCCCTAGTGCTGGCTGTGTAGCCTGGGTCAGGCCCCTGCACCTGACACACAGTACCATTGTGCAGAGTGGGCAGAAGCCCACTGGCCTCTCACTGATCAGAATCATGGGTTGGGGGAGTGGGGAGCATGTGGCCCTCTGGGTGTGTTGACACCTGGCACTGAGGAGGTTCTAGCTGCCACTCAGCAATTTCTGGCTTCCGTGAGGAATCTGGCCTCCACCTGGAGCCAGCAATGTCTGTCTGGCACTGGCTGAGCCCCAGGCATCAGCACCCCTCACCACCCGGGGAAAGCTGGTTTCCATTTTACAGAGGACCTGGAGACTTGGAGAAAGGCTTGACACACGTGAGGCTGGTCACGGAGAGGTGGGGGGGTCCCAGTGGGAGCTCATGGCCATCTGGTCACCTCCCTCCTCATCCCTGTGCACTCCCTGAGCCCTGGCCAGAGCCCTGCTCCCAGCTACTTCAGGAGCAGTGGCTTTTGTGGCAATGGGCAAGCAGGCAGTGGCCGGCTCTACCCAGCACACGTGGCACTACCATGGCTGCCTGGCCGGGGGGCAGCCTTTGACCTCTACACTACTGACCACAGGGAACCAATGAGATTCTCCGGATGTACATCGCCCTGACGGGTCTGCAGCATGCCGGCCGCATCCTGACTACCAG
TTTCACTGTGTGACATGAACGGTGTGTTCTTTTGATGTCTCTGTACTGGTGACTTCTGTGGTGATTTGGGAAGAAGACTAGTTAAGGCTTTATTTGACACGGGTCACTGGGCTTGCTTCTCTTGGGCATTGAGGCTTCTGACTTAATTACTTTCTCTCCTGTTTCACAGATTTGGCTCTCAGCACATGCAAATTGTTTCTTGTGTTTTTTCTGAACACTCCAGGAGAAATTTGCACTGATGGCTCAGAAGGCTTACGTCATGGAGAGTATGACCTACCTCACAGCAGGGATGCTGGACCAACCTGGCTTTCCCGACTGCTCCATCGAGGCAGCCATGGTGAAGGTAACCCTGGCATAGCCAGAGAGCTGGCGCTGGAGGGAGGCTTGGGAAATCTCCCTCACTGTGACCTTTCAAGCCCATGCTGTTGCCTGTCATCTTCCTCCTGTCATTGATCCAGTATTTATGATGCACTTGCCCTGTGTAGCACTCCAGGGATAGGCAGGCAGCGGGGAGCAGCAGTAGGGAAGTGTCCAGTGGGCCAGTGGATCAGTAGTTTATAGCAGAAGGAGACCGTTATGATAATATCCTTTTAGAGTAATAACATTGCATCTGGCTTGTGTGAGAAAGACTTCTTTTTTCCTTAGTTTATGGCCTTCCTACTTTCTGGTATCAAAACTTTATCTTAAAAACTAAGCATATGGCAGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGATGGATCACCTGAGGTCTGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAACACAAAAAATTAGCCGGGCATAGTGGCGGGCACCTGTAACCCCAGCTACTTGGGAAGCTGAGGCAAGAGAATCACTTGAACCCGGTGGGGGCGGAGGTTGCAGTGAGCCGAGGTTGTGCCATTGCACACCAGCCTAGGCAACAAGAGCAAAACTCCATCTCAAAAAAAAACAAAAAACAAAAAACATGTATGAGCCTGGGCAACATGGCGAAACCCCATCTCTACAAAAAATACAAAAATTAGCTGGCATGGTGGCACACGCCTATAGTCCCTGCTACCTGGGAGGCTGAGGTGGGAAGAGCATCTTATTTGGTTAAGGTAGATACTAGAATTTGCTTTTGTTTTGTTGAGGGTGGAGGGTGTCATTTTTTAGCTGTAATAAAAAAGATGGCCACACTTGGGGGGACCCTACTTTGTGCCCCCCACAATTGTTTTTAAGCTGGTCTCTGGAATTGAGCTCTTGAGAGAAATAGTGAGAGGTATGGCAGCTTACAGAAGCAAACATCCTGGTGTCGGCAGGAGAGTCTACCTAAAAGGTTGGGATCCTGAAGTGGCAAGGTCCCTAAAAAAATAAAAAATTAAAAACAAAAAGGCTGGGCATCTTGGACCGTGTTTGAGTCTTTTCTAGGTGCAGTCTGTGTACTGGGTGCATTTGCATGTGTTTTATCATCTCGTTTTCTTGTCACCCTTGAACAGTGACCACAGACATTAGTTTGCTGTAGGCCAGCCTCTTCCAGATGCTAAGCCTAGGGCTAAACATGGCAGTATGTTTGCCCCCAAGGCACTTATAGTGTGCACAGACAGAAAGAAATCACGGCCGCTGGGGCTTGGCAGGAACAGGTCAGGTTTTCTCGGGAAGGGGAGATCTTAGGTGGGTTTTAAAGGAACAGGAGCTCAGCCAGGTGCAGATAGGGTGAAGGCAGGCCCAGAGGTACAGAAGGTCATGGTGGGGTAGGGAACACAAGCTGGCCAGTGTGGTCACGGAAGGCAAAGGACTTGACCACATCACCCCTCAAGTTCCTCCCTGGCCGATCTCCTCCCCAAGCCCGTGTGCCTCCCATGCCTCCCCAGCCACCCAGCTCCCTGCAGCGTAGGTCCTCCTTTTGGAAAGGATTCAGTGTGACACCCCACAGGTGTTCAGCTCCGAGGCCGCCTGGCAGTGTGTGAGTGAGGCGCTGCAGATCCTCGGGGGCTTGGGCTACACAAGGGACTATCCGTACGAGAGCATACTGCGTGACACCCGCATCCTCCTCATCTTCGAGGTGAGTGGCCCCGCCACCAGCTAAGCTGTGCTCCACCCCCACCCTGCCTGGTCCTAAAGATGCTGCTCAGGGCCTCGCAGAGGCCCCCGCAGCCCAGGGCTGGGTCGCATGCTCTCAGGGGCTCTCCTAGCCCTGGCACGTCTCCTTCCCGACTGCTGCCCTCCATGAAGTCACAAGCCTGAGGAGTCAGTTCAGTTAGCATGTGCCAGGTGGCAGGGGAGGGAACTGGGGCCACAGAGATGACTTCGGATGCTGTGTTCTGATTGTGCAGCAGGGCCGACCAAGGGAGATGACAGAGTGTAAAGAGGCAGGGAGCGGGCATCCTCCAGAGGCAGCCAGAGTTTTGTGAAGCATGCGCTCCTGGCCCCTAGGGGCAGAAAGAAAGGGCTTCAACCAGGGCCGGGTGGAGGGCAGTTTGTCCCTAAGGGCAGGGTAATAGAGCGCGCCAGGCCCAGATGGGACTGATCTGCTGGCACAAGGTGAATGAAGAGAGAGTGAAGGGCTTTCTGGGAGCAGCAGTCAGCCCTGCTAGGTGGGCTGGGGCAGGCAGTGGGTTTGGGGGTGTTGAAGAAGGTATATGGGAAGGCTAAAAAAGTAGCCAGACTGTGGAGGACCTTGATTGACAGCAGAGGAATTTGGAAGCCACAAAACGTCTTTAAGCAGGGCATTATTTGGTTGTATCTGTGTTGTGGGAAATGCCCCCAGGGGCTCAGCAAGTGCTGGACATGTGGACGGGGCTCATGTGGAGAGTGAGTTGCAGGGATGAGGCCGGAGACCAGGGGCTCTCCTGCTGGGAGGGAGGGGCTGGACCTAAGAGAGCACAGCAGGATGAGTGGGATATGATGGTGGGCATGGGTATACAGGAGGCAGGCCTGAGACAGGGAGAGGGTTTGGGCCTGAGCAGCAGGTCTGGTGATGAGAGGCATCATCAGCCTCTGGGAGTGTAGTCTTGTCTCCTGGGCCGTCCTGCCCAGTGGGAGGCCTCCTTGGCTGCTTTTGTTCCTGGCCTACCCATTGGGTTCCAGCCATCTCCACTGTTGCAGTGGACATACGGGGCAAGGGCCAGCCTGAGGGCACTGGAGTGGTCTCAGCCCTGCAAAGGGTCTTCTCCAAAGGCCCTTCCCTTAGCCTGGGAGGGTTGGGGTTCTCCAGGGCTGGGGTGGTCAGCAGGGTTCAGGAAGCCCTCAAGGCCTTGGAAGAACACAGGGCTCTCGATGTAGGGTGAGAGCTCCTGTCTGGAGCCTGCTCGGAGCTGGGTGGTCCTGCCAGGAGGCCCCTGCAGTCCCCCCTTTTCCTGTAGGGAGTCCTGCTGTCCGTGATGTCAGCCTGACTGCAGGGGACAGTCCTCAGTCCCTAGTGCTGGCTGTGTAGCCTGGGTCAGGCCCCTGCACCTGACACACAGTACCATTGTGCAGAGTGGGCAGAAGCCCACTGGCCTCTCACTGATCAGAATCATGGGTTGGGGGAGTGGGGAGCATGTGGCCCTCTGGGTGTGTTGACACCTGGCACTGAGGAGGTTCTAGCTGCCACTCAGCAATTTCTGGCTTCCGTGAGGAATCTGGCCTCCACCTGGAGCCAGCAATGTCTGTCTGGCACTGGCTGAGCCCCAGGCATCAGCACCCCTCACCACCCGGGGAAAGCTGGTTTCCATTTTACAGAGGACCTGGAGACTTGGAGAAAGGCTTGACACACGTGAGGCTGGTCACGGAGAGGTGGGGGGGTCCCAGTGGGAGCTCATGGCCATCTGGTCACCTCCCTCCTCATCCCTGTGCACTCCCTGAGCCCTGGCCAGAGCCCTGCTCCCAGCTACTTCAGGAGCAGTGGCTTTTGTGGCAATGGGCAAGCAGGCAGTGGCCGGCTCTACCCAGCACACGTGGCACTACCATGGCTGCCTGGCCGGGGGGCAGCCTTTGACCTCTACACTACTGACCACAGGGAACCAATGAGATTCTCCGGATGTACATCGCCCTGACGGGTCTGCAGCATGCCGGCCGCATCCTGACTACCAG
Task1_train_7513
A mutation on Chromosome 3 affecting ACAD9 (acyl-CoA dehydrogenase family member 9) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Acyl-CoA dehydrogenase 9 deficiency
AGGCCCTTCCCTTAGCCTGGGAGGGTTGGGGTTCTCCAGGGCTGGGGTGGTCAGCAGGGTTCAGGAAGCCCTCAAGGCCTTGGAAGAACACAGGGCTCTCGATGTAGGGTGAGAGCTCCTGTCTGGAGCCTGCTCGGAGCTGGGTGGTCCTGCCAGGAGGCCCCTGCAGTCCCCCCTTTTCCTGTAGGGAGTCCTGCTGTCCGTGATGTCAGCCTGACTGCAGGGGACAGTCCTCAGTCCCTAGTGCTGGCTGTGTAGCCTGGGTCAGGCCCCTGCACCTGACACACAGTACCATTGTGCAGAGTGGGCAGAAGCCCACTGGCCTCTCACTGATCAGAATCATGGGTTGGGGGAGTGGGGAGCATGTGGCCCTCTGGGTGTGTTGACACCTGGCACTGAGGAGGTTCTAGCTGCCACTCAGCAATTTCTGGCTTCCGTGAGGAATCTGGCCTCCACCTGGAGCCAGCAATGTCTGTCTGGCACTGGCTGAGCCCCAGGCATCAGCACCCCTCACCACCCGGGGAAAGCTGGTTTCCATTTTACAGAGGACCTGGAGACTTGGAGAAAGGCTTGACACACGTGAGGCTGGTCACGGAGAGGTGGGGGGGTCCCAGTGGGAGCTCATGGCCATCTGGTCACCTCCCTCCTCATCCCTGTGCACTCCCTGAGCCCTGGCCAGAGCCCTGCTCCCAGCTACTTCAGGAGCAGTGGCTTTTGTGGCAATGGGCAAGCAGGCAGTGGCCGGCTCTACCCAGCACACGTGGCACTACCATGGCTGCCTGGCCGGGGGGCAGCCTTTGACCTCTACACTACTGACCACAGGGAACCAATGAGATTCTCCGGATGTACATCGCCCTGACGGGTCTGCAGCATGCCGGCCGCATCCTGACTACCAGGATCCAGTAGGTGCCATTGTCACCGTGTGCTTCTCAGGTCCCATACCTGCCCAGCAGGGGCCAGTCCAGGGCAGTGGGAGGAAAGAGCTGCCTTGACCTGGAGTGGGGGCATGGGGGTGTGGCGCAGCCTTGTGGAGGGGACCTTCCCCTGTGGTAGTGGGGGGCTTGCTGCCCAGGGAAGCCCTCGCTGCCCTGCCCTTATGGCCACAGCACCCTACAGCTTCAGCATAAATACCGTATCCCCCATCTGGTCCCTCACACTAGAGGCAGCTGGTTTTTCAGAACCTGAAGAATGAGAGGTGTCCCTTTAAAGGTGCCAGGCCTCACAGCCAACATAAGCCAGTGTTTCTCTTCTCTGCCCTTCTTCCCCTCATGCTCCCCTCCACCCCCACCCTAGGGGCACAGTAATCCAAAATCACTGCTGGAGGCCAAGTACAGGTTGCTAGTAGCATTTTGTCTCCTTCACAGGAGACAGCTGCTGGGAAGCTGGCTGTGACTCCACCCCTCATGGGGGAGCATATGTGTGGCTCCCCTGAGGAGACTGGCTGCTCTCTGGCAGGTGGTGGGTTTGGGGGGGTTCAGGCTGTAGCCAGGGGCCCAGCATACCCAGGCCAGAGGGGGGCACGGAGCTTCTGGGTGCCGAATGGGCCATGTTGCTGGACAGTGAGCGCCAGCAGCGAGGCCTCCAGTCACAGGACCATGGACTTTCTGCAGTGAGCTTAAACAGGCCAAAGTGAGCACAGTCATGGATACCGTTGGCCGGAGGCTTCGGGACTCCCTGGGCCGAACTGTGGACCTGGGGCTGACAGGCAACCATGGAGTTGTGCACCCCAGTCTTGCGGTGAGTGGGCCTAACAGGCATACCCCCTATTTCAATGCCCTCCTGCCAGATCTCCTTGTGGCAGAAAAGATCTCACTGTGGGGGGTCTGGGCTTCTCCAGGGGAAGTTGGGGAACACCAGCTAGTCCATGACACCCTGGATTGCTTCCCCCAGATGGGGCATCTCTGCCTGGTACCCGGGCTGTGAGACAGGACAGGGCACTGTAGGGATGAGGTGCTGAACTGAGTCCTGTCTTGGTTAATAGGACAGTGCCAACAAGTTTGAGGAGAACACCTACTGCTTCGGCCGGACCGTGGAGACACTGCTGCTCCGCTTTGGCAAGGTAACCAGGCCCTCCCAGGCCTGGGTCGCAAGCGGTCCTCCAATTTGGCCAGCATTCATGAGACTACTTTTTGTCAAGCATCCTTTGGGACCAGGCCTAGAACAGAAATGTTGATCACCCTGGAGGGATGGGGTGGTGAGGTCAGGCTGACTTTGTCAGCCTGGGGCCCACTTAGCTACTCGGATGGGTACCCTTGCTGGGTGAGTTTTCTGCAGTGTTTTTCTGTGCACCTTTCAGGTAGAGAGGCTCCCTAGAATCGGGAGGGCAGCTCCACCTGGGGCCTGAATCTAGGGACCTGATTGGTGGGGCCCTTGCTGCTGAAGGTGGCAGTAGCACAGTAAGCACTGGCTTCTGGTCTCAGCCAAGCTTCTGGGACCTGGTCTTGCCTTAACCCCTCCCTGAATCTAGAGCTCAAAGAGAAGGGAAAACAGAAGGTGGCTGGGAGCCGTTCTCCCACAACCTGAAGAGAAAGGTGTTATTGACTCCACTTTCTCAAGGAACACAGGAGACTAAGACAGGCAAAGATGCAGCCCAGGGAGGGACCATGTGGGGGACTGGTCTAGGTAGTGAGTCCCCACTTGGAGCCTCTGTGATCCCAGACCATCATGGAGGAGCAGCTGGTACTGAAGCGGGTGGCCAACATCCTCATCAACCTGTATGGCATGACGGCCGTGCTGTCGCGGGCCAGCCGCTCCATCCGCATTGGGCTCCGCAACCACGACCACGAGGTGAGCCCAGCCCAGCCTCACACAGGGCCTGGCTGCTGCCATCTGTCCTGCTGCACTTTAATGAAGTTGATTGTTGAGGAGGGTGTGGTCGGGTGTGGGGGAGGCTGTGCAGGTTCACCATGCGGTGGCCGTGGGAGGGTCTGTGCTGCTCAGGAGATGGGGCTGTTCCCTTTCTTCTTCCTGACTGAGAGAAGAGGGGGTGAGTGACAGGGGTTCCTGATCCCAGTGCCCCTACCCCCAGCAAGGGACAGACCCTGCACATTGCCCGCTGTGCTGGAGGGAGGCGGGTGCAGTCTCTGAGGACCCACTGTATACCAGGATCTCTGCCTGCACTTTCCAGAGCACCTGCAGATACCAGGATTGTGACATCTGCCTTTCAGAGGAAACAGGGTCAGAGATGTTGAGTCACTTGCTGTTGGGGAAAGGCTGTTGGATCAGGGCTGGAATTAGAACCCAAGACGGGGTGACTCCTGTGCCAGGCCTTGTGACCCCTGCCATGCTACCCAGTTTGGCTGATAGGCTGGGTTTTTGAAGCTCAGAGGTCTGATTCCAGGAATTTGGGCATATCTTTTCTGTCCTCGGTTCTGGCAGGTTCTCTTGGCCAACACCTTCTGCGTGGAAGCTTACTTGCAGAATCTCTTCAGCCTCTCTCAGCTGGACAAGTGTGAGTGGCATGTCTTGGGGGAGGGAAGGAAGGGCCCACTTCTAGGCCCCTATTGATGGTGAGCTGTTTCTGGACCCTGTCAAGCTCCCAGAGCCTGCTAGCTACTCACAGACCTCTGCCTTGAGCGAGGGCCTGGGTAGGCCTGGGCTTAGCTGCAGCAGTGCCCACCAGGCACTGTAGGTGCATACCTGCCCCATTCACCAAGGCAGTTGTATGTATATATGTGTGTGTGTGTATGTATGTATGTATGTATTTATTTCGAGATGGAGTTTCGCTCTTGTTGCCCAAGCTGGAGTGTAATGGCGCAGTCTTGGCTCCCTGCAAACTCCACCTCTTGGGTTCAAGCGATTCTTCTGCCCCAGCCTCCCGAGTAGCTGGGATTACAGGCGCACGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACAGGGTTTCACCATGTTAGCCAGGCTGGTCTCCAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCAAAAATGCTGGGATTACAGGCATGAGCCACCGCACCGGGCCTGCCAAGGCAATTTTAGATTGAGCAAGTGCAGAGCCCTTTGCGCAGGACCCCTGGCATCTGCCCAGCATGCCTGGCTGTATTCTCTTTTTTTTGGAGACAT
AGGCCCTTCCCTTAGCCTGGGAGGGTTGGGGTTCTCCAGGGCTGGGGTGGTCAGCAGGGTTCAGGAAGCCCTCAAGGCCTTGGAAGAACACAGGGCTCTCGATGTAGGGTGAGAGCTCCTGTCTGGAGCCTGCTCGGAGCTGGGTGGTCCTGCCAGGAGGCCCCTGCAGTCCCCCCTTTTCCTGTAGGGAGTCCTGCTGTCCGTGATGTCAGCCTGACTGCAGGGGACAGTCCTCAGTCCCTAGTGCTGGCTGTGTAGCCTGGGTCAGGCCCCTGCACCTGACACACAGTACCATTGTGCAGAGTGGGCAGAAGCCCACTGGCCTCTCACTGATCAGAATCATGGGTTGGGGGAGTGGGGAGCATGTGGCCCTCTGGGTGTGTTGACACCTGGCACTGAGGAGGTTCTAGCTGCCACTCAGCAATTTCTGGCTTCCGTGAGGAATCTGGCCTCCACCTGGAGCCAGCAATGTCTGTCTGGCACTGGCTGAGCCCCAGGCATCAGCACCCCTCACCACCCGGGGAAAGCTGGTTTCCATTTTACAGAGGACCTGGAGACTTGGAGAAAGGCTTGACACACGTGAGGCTGGTCACGGAGAGGTGGGGGGGTCCCAGTGGGAGCTCATGGCCATCTGGTCACCTCCCTCCTCATCCCTGTGCACTCCCTGAGCCCTGGCCAGAGCCCTGCTCCCAGCTACTTCAGGAGCAGTGGCTTTTGTGGCAATGGGCAAGCAGGCAGTGGCCGGCTCTACCCAGCACACGTGGCACTACCATGGCTGCCTGGCCGGGGGGCAGCCTTTGACCTCTACACTACTGACCACAGGGAACCAATGAGATTCTCCGGATGTACATCGCCCTGACGGGTCTGCAGCATGCCGGCCGCATCCTGACTACCAGGATCCAGTAGGTGCCATTGTCACCGTGTGCTTCTCAGGTCCCATACCTGCCCAGCAGGGGCCAGTCCAGGGCAGTGGGAGGAAAGAGCTGCCTTGACCTGGAGTGGGGGCATGGGGGTGTGGCGCAGCCTTGTGGAGGGGACCTTCCCCTGTGGTAGTGGGGGGCTTGCTGCCCAGGGAAGCCCTCGCTGCCCTGCCCTTATGGCCACAGCACCCTACAGCTTCAGCATAAATACCGTATCCCCCATCTGGTCCCTCACACTAGAGGCAGCTGGTTTTTCAGAACCTGAAGAATGAGAGGTGTCCCTTTAAAGGTGCCAGGCCTCACAGCCAACATAAGCCAGTGTTTCTCTTCTCTGCCCTTCTTCCCCTCATGCTCCCCTCCACCCCCACCCTAGGGGCACAGTAATCCAAAATCACTGCTGGAGGCCAAGTACAGGTTGCTAGTAGCATTTTGTCTCCTTCACAGGAGACAGCTGCTGGGAAGCTGGCTGTGACTCCACCCCTCATGGGGGAGCATATGTGTGGCTCCCCTGAGGAGACTGGCTGCTCTCTGGCAGGTGGTGGGTTTGGGGGGGTTCAGGCTGTAGCCAGGGGCCCAGCATACCCAGGCCAGAGGGGGGCACGGAGCTTCTGGGTGCCGAATGGGCCATGTTGCTGGACAGTGAGCGCCAGCAGCGAGGCCTCCAGTCACAGGACCATGGACTTTCTGCAGTGAGCTTAAACAGGCCAAAGTGAGCACAGTCATGGATACCGTTGGCCGGAGGCTTCGGGACTCCCTGGGCCGAACTGTGGACCTGGGGCTGACAGGCAACCATGGAGTTGTGCACCCCAGTCTTGCGGTGAGTGGGCCTAACAGGCATACCCCCTATTTCAATGCCCTCCTGCCAGATCTCCTTGTGGCAGAAAAGATCTCACTGTGGGGGGTCTGGGCTTCTCCAGGGGAAGTTGGGGAACACCAGCTAGTCCATGACACCCTGGATTGCTTCCCCCAGATGGGGCATCTCTGCCTGGTACCCGGGCTGTGAGACAGGACAGGGCACTGTAGGGATGAGGTGCTGAACTGAGTCCTGTCTTGGTTAATAGGACAGTGCCAACAAGTTTGAGGAGAACACCTACTGCTTCGGCCGGACCGTGGAGACACTGCTGCTCCACTTTGGCAAGGTAACCAGGCCCTCCCAGGCCTGGGTCGCAAGCGGTCCTCCAATTTGGCCAGCATTCATGAGACTACTTTTTGTCAAGCATCCTTTGGGACCAGGCCTAGAACAGAAATGTTGATCACCCTGGAGGGATGGGGTGGTGAGGTCAGGCTGACTTTGTCAGCCTGGGGCCCACTTAGCTACTCGGATGGGTACCCTTGCTGGGTGAGTTTTCTGCAGTGTTTTTCTGTGCACCTTTCAGGTAGAGAGGCTCCCTAGAATCGGGAGGGCAGCTCCACCTGGGGCCTGAATCTAGGGACCTGATTGGTGGGGCCCTTGCTGCTGAAGGTGGCAGTAGCACAGTAAGCACTGGCTTCTGGTCTCAGCCAAGCTTCTGGGACCTGGTCTTGCCTTAACCCCTCCCTGAATCTAGAGCTCAAAGAGAAGGGAAAACAGAAGGTGGCTGGGAGCCGTTCTCCCACAACCTGAAGAGAAAGGTGTTATTGACTCCACTTTCTCAAGGAACACAGGAGACTAAGACAGGCAAAGATGCAGCCCAGGGAGGGACCATGTGGGGGACTGGTCTAGGTAGTGAGTCCCCACTTGGAGCCTCTGTGATCCCAGACCATCATGGAGGAGCAGCTGGTACTGAAGCGGGTGGCCAACATCCTCATCAACCTGTATGGCATGACGGCCGTGCTGTCGCGGGCCAGCCGCTCCATCCGCATTGGGCTCCGCAACCACGACCACGAGGTGAGCCCAGCCCAGCCTCACACAGGGCCTGGCTGCTGCCATCTGTCCTGCTGCACTTTAATGAAGTTGATTGTTGAGGAGGGTGTGGTCGGGTGTGGGGGAGGCTGTGCAGGTTCACCATGCGGTGGCCGTGGGAGGGTCTGTGCTGCTCAGGAGATGGGGCTGTTCCCTTTCTTCTTCCTGACTGAGAGAAGAGGGGGTGAGTGACAGGGGTTCCTGATCCCAGTGCCCCTACCCCCAGCAAGGGACAGACCCTGCACATTGCCCGCTGTGCTGGAGGGAGGCGGGTGCAGTCTCTGAGGACCCACTGTATACCAGGATCTCTGCCTGCACTTTCCAGAGCACCTGCAGATACCAGGATTGTGACATCTGCCTTTCAGAGGAAACAGGGTCAGAGATGTTGAGTCACTTGCTGTTGGGGAAAGGCTGTTGGATCAGGGCTGGAATTAGAACCCAAGACGGGGTGACTCCTGTGCCAGGCCTTGTGACCCCTGCCATGCTACCCAGTTTGGCTGATAGGCTGGGTTTTTGAAGCTCAGAGGTCTGATTCCAGGAATTTGGGCATATCTTTTCTGTCCTCGGTTCTGGCAGGTTCTCTTGGCCAACACCTTCTGCGTGGAAGCTTACTTGCAGAATCTCTTCAGCCTCTCTCAGCTGGACAAGTGTGAGTGGCATGTCTTGGGGGAGGGAAGGAAGGGCCCACTTCTAGGCCCCTATTGATGGTGAGCTGTTTCTGGACCCTGTCAAGCTCCCAGAGCCTGCTAGCTACTCACAGACCTCTGCCTTGAGCGAGGGCCTGGGTAGGCCTGGGCTTAGCTGCAGCAGTGCCCACCAGGCACTGTAGGTGCATACCTGCCCCATTCACCAAGGCAGTTGTATGTATATATGTGTGTGTGTGTATGTATGTATGTATGTATTTATTTCGAGATGGAGTTTCGCTCTTGTTGCCCAAGCTGGAGTGTAATGGCGCAGTCTTGGCTCCCTGCAAACTCCACCTCTTGGGTTCAAGCGATTCTTCTGCCCCAGCCTCCCGAGTAGCTGGGATTACAGGCGCACGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACAGGGTTTCACCATGTTAGCCAGGCTGGTCTCCAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCAAAAATGCTGGGATTACAGGCATGAGCCACCGCACCGGGCCTGCCAAGGCAATTTTAGATTGAGCAAGTGCAGAGCCCTTTGCGCAGGACCCCTGGCATCTGCCCAGCATGCCTGGCTGTATTCTCTTTTTTTTGGAGACAT
Task1_train_7514
Gene ACAD9, CFAP92 (acyl-CoA dehydrogenase family member 9| cilia and flagella associated protein 92 (putative)) on Chromosome 3 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Acyl-CoA dehydrogenase 9 deficiency
GGCAGTGGCCGGCTCTACCCAGCACACGTGGCACTACCATGGCTGCCTGGCCGGGGGGCAGCCTTTGACCTCTACACTACTGACCACAGGGAACCAATGAGATTCTCCGGATGTACATCGCCCTGACGGGTCTGCAGCATGCCGGCCGCATCCTGACTACCAGGATCCAGTAGGTGCCATTGTCACCGTGTGCTTCTCAGGTCCCATACCTGCCCAGCAGGGGCCAGTCCAGGGCAGTGGGAGGAAAGAGCTGCCTTGACCTGGAGTGGGGGCATGGGGGTGTGGCGCAGCCTTGTGGAGGGGACCTTCCCCTGTGGTAGTGGGGGGCTTGCTGCCCAGGGAAGCCCTCGCTGCCCTGCCCTTATGGCCACAGCACCCTACAGCTTCAGCATAAATACCGTATCCCCCATCTGGTCCCTCACACTAGAGGCAGCTGGTTTTTCAGAACCTGAAGAATGAGAGGTGTCCCTTTAAAGGTGCCAGGCCTCACAGCCAACATAAGCCAGTGTTTCTCTTCTCTGCCCTTCTTCCCCTCATGCTCCCCTCCACCCCCACCCTAGGGGCACAGTAATCCAAAATCACTGCTGGAGGCCAAGTACAGGTTGCTAGTAGCATTTTGTCTCCTTCACAGGAGACAGCTGCTGGGAAGCTGGCTGTGACTCCACCCCTCATGGGGGAGCATATGTGTGGCTCCCCTGAGGAGACTGGCTGCTCTCTGGCAGGTGGTGGGTTTGGGGGGGTTCAGGCTGTAGCCAGGGGCCCAGCATACCCAGGCCAGAGGGGGGCACGGAGCTTCTGGGTGCCGAATGGGCCATGTTGCTGGACAGTGAGCGCCAGCAGCGAGGCCTCCAGTCACAGGACCATGGACTTTCTGCAGTGAGCTTAAACAGGCCAAAGTGAGCACAGTCATGGATACCGTTGGCCGGAGGCTTCGGGACTCCCTGGGCCGAACTGTGGACCTGGGGCTGACAGGCAACCATGGAGTTGTGCACCCCAGTCTTGCGGTGAGTGGGCCTAACAGGCATACCCCCTATTTCAATGCCCTCCTGCCAGATCTCCTTGTGGCAGAAAAGATCTCACTGTGGGGGGTCTGGGCTTCTCCAGGGGAAGTTGGGGAACACCAGCTAGTCCATGACACCCTGGATTGCTTCCCCCAGATGGGGCATCTCTGCCTGGTACCCGGGCTGTGAGACAGGACAGGGCACTGTAGGGATGAGGTGCTGAACTGAGTCCTGTCTTGGTTAATAGGACAGTGCCAACAAGTTTGAGGAGAACACCTACTGCTTCGGCCGGACCGTGGAGACACTGCTGCTCCGCTTTGGCAAGGTAACCAGGCCCTCCCAGGCCTGGGTCGCAAGCGGTCCTCCAATTTGGCCAGCATTCATGAGACTACTTTTTGTCAAGCATCCTTTGGGACCAGGCCTAGAACAGAAATGTTGATCACCCTGGAGGGATGGGGTGGTGAGGTCAGGCTGACTTTGTCAGCCTGGGGCCCACTTAGCTACTCGGATGGGTACCCTTGCTGGGTGAGTTTTCTGCAGTGTTTTTCTGTGCACCTTTCAGGTAGAGAGGCTCCCTAGAATCGGGAGGGCAGCTCCACCTGGGGCCTGAATCTAGGGACCTGATTGGTGGGGCCCTTGCTGCTGAAGGTGGCAGTAGCACAGTAAGCACTGGCTTCTGGTCTCAGCCAAGCTTCTGGGACCTGGTCTTGCCTTAACCCCTCCCTGAATCTAGAGCTCAAAGAGAAGGGAAAACAGAAGGTGGCTGGGAGCCGTTCTCCCACAACCTGAAGAGAAAGGTGTTATTGACTCCACTTTCTCAAGGAACACAGGAGACTAAGACAGGCAAAGATGCAGCCCAGGGAGGGACCATGTGGGGGACTGGTCTAGGTAGTGAGTCCCCACTTGGAGCCTCTGTGATCCCAGACCATCATGGAGGAGCAGCTGGTACTGAAGCGGGTGGCCAACATCCTCATCAACCTGTATGGCATGACGGCCGTGCTGTCGCGGGCCAGCCGCTCCATCCGCATTGGGCTCCGCAACCACGACCACGAGGTGAGCCCAGCCCAGCCTCACACAGGGCCTGGCTGCTGCCATCTGTCCTGCTGCACTTTAATGAAGTTGATTGTTGAGGAGGGTGTGGTCGGGTGTGGGGGAGGCTGTGCAGGTTCACCATGCGGTGGCCGTGGGAGGGTCTGTGCTGCTCAGGAGATGGGGCTGTTCCCTTTCTTCTTCCTGACTGAGAGAAGAGGGGGTGAGTGACAGGGGTTCCTGATCCCAGTGCCCCTACCCCCAGCAAGGGACAGACCCTGCACATTGCCCGCTGTGCTGGAGGGAGGCGGGTGCAGTCTCTGAGGACCCACTGTATACCAGGATCTCTGCCTGCACTTTCCAGAGCACCTGCAGATACCAGGATTGTGACATCTGCCTTTCAGAGGAAACAGGGTCAGAGATGTTGAGTCACTTGCTGTTGGGGAAAGGCTGTTGGATCAGGGCTGGAATTAGAACCCAAGACGGGGTGACTCCTGTGCCAGGCCTTGTGACCCCTGCCATGCTACCCAGTTTGGCTGATAGGCTGGGTTTTTGAAGCTCAGAGGTCTGATTCCAGGAATTTGGGCATATCTTTTCTGTCCTCGGTTCTGGCAGGTTCTCTTGGCCAACACCTTCTGCGTGGAAGCTTACTTGCAGAATCTCTTCAGCCTCTCTCAGCTGGACAAGTGTGAGTGGCATGTCTTGGGGGAGGGAAGGAAGGGCCCACTTCTAGGCCCCTATTGATGGTGAGCTGTTTCTGGACCCTGTCAAGCTCCCAGAGCCTGCTAGCTACTCACAGACCTCTGCCTTGAGCGAGGGCCTGGGTAGGCCTGGGCTTAGCTGCAGCAGTGCCCACCAGGCACTGTAGGTGCATACCTGCCCCATTCACCAAGGCAGTTGTATGTATATATGTGTGTGTGTGTATGTATGTATGTATGTATTTATTTCGAGATGGAGTTTCGCTCTTGTTGCCCAAGCTGGAGTGTAATGGCGCAGTCTTGGCTCCCTGCAAACTCCACCTCTTGGGTTCAAGCGATTCTTCTGCCCCAGCCTCCCGAGTAGCTGGGATTACAGGCGCACGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACAGGGTTTCACCATGTTAGCCAGGCTGGTCTCCAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCAAAAATGCTGGGATTACAGGCATGAGCCACCGCACCGGGCCTGCCAAGGCAATTTTAGATTGAGCAAGTGCAGAGCCCTTTGCGCAGGACCCCTGGCATCTGCCCAGCATGCCTGGCTGTATTCTCTTTTTTTTGGAGACATAGTCTCACTTTGTCACCCAGGCTGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAACTCCTGTGCCTCAGCCTCCTGAGTAGTTGGGATTATAGGCACGCACCACCATGCCCAGCTAATATTTGTATTTTTAGTAGAAACAAACAGGGTTTCACCATGTTGGCCAAGCTGGTCTCCAACCCCTGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCAGCCCTGGCTGTATTCTTGAAGCTGCCCGGGGAAGGCTCACGAAGGGAGGAGCATCTGGTTGTACCTGATTCTGGAGACAGCATTTTACCTGCCCCTTTACCCACTGTACTCCATCCAAAATGACCCTGCAGTGCCCTGCAGAGGTCTCAGGCCTTGGCCTAGAGAACAGAGGGCTTTGCTCGTGCTCCCCGCTCTGTCTGCAGTGCTCTTCCTCTTCTATAGCCACTCGACCATATCTAGGAATGCCCAGCTCAGTCTACCTCTGACCCTCACAGTCCTGTTGACCTGAGGTTCTGGATCAGTGTCCCCACAAAGCCCAGTCGTGTTGCCAAGTGATGGGTGTAGGCGCCAGCACTGTGGCACTTGCTGAGAGTGGCATATGATTTTTTGCAGGTCCTAGCCCTGGGGGTAGCCCAGACACCCCCCCAGTGCTGACAGGTTATGTGCTGTGGA
GGCAGTGGCCGGCTCTACCCAGCACACGTGGCACTACCATGGCTGCCTGGCCGGGGGGCAGCCTTTGACCTCTACACTACTGACCACAGGGAACCAATGAGATTCTCCGGATGTACATCGCCCTGACGGGTCTGCAGCATGCCGGCCGCATCCTGACTACCAGGATCCAGTAGGTGCCATTGTCACCGTGTGCTTCTCAGGTCCCATACCTGCCCAGCAGGGGCCAGTCCAGGGCAGTGGGAGGAAAGAGCTGCCTTGACCTGGAGTGGGGGCATGGGGGTGTGGCGCAGCCTTGTGGAGGGGACCTTCCCCTGTGGTAGTGGGGGGCTTGCTGCCCAGGGAAGCCCTCGCTGCCCTGCCCTTATGGCCACAGCACCCTACAGCTTCAGCATAAATACCGTATCCCCCATCTGGTCCCTCACACTAGAGGCAGCTGGTTTTTCAGAACCTGAAGAATGAGAGGTGTCCCTTTAAAGGTGCCAGGCCTCACAGCCAACATAAGCCAGTGTTTCTCTTCTCTGCCCTTCTTCCCCTCATGCTCCCCTCCACCCCCACCCTAGGGGCACAGTAATCCAAAATCACTGCTGGAGGCCAAGTACAGGTTGCTAGTAGCATTTTGTCTCCTTCACAGGAGACAGCTGCTGGGAAGCTGGCTGTGACTCCACCCCTCATGGGGGAGCATATGTGTGGCTCCCCTGAGGAGACTGGCTGCTCTCTGGCAGGTGGTGGGTTTGGGGGGGTTCAGGCTGTAGCCAGGGGCCCAGCATACCCAGGCCAGAGGGGGGCACGGAGCTTCTGGGTGCCGAATGGGCCATGTTGCTGGACAGTGAGCGCCAGCAGCGAGGCCTCCAGTCACAGGACCATGGACTTTCTGCAGTGAGCTTAAACAGGCCAAAGTGAGCACAGTCATGGATACCGTTGGCCGGAGGCTTCGGGACTCCCTGGGCCGAACTGTGGACCTGGGGCTGACAGGCAACCATGGAGTTGTGCACCCCAGTCTTGCGGTGAGTGGGCCTAACAGGCATACCCCCTATTTCAATGCCCTCCTGCCAGATCTCCTTGTGGCAGAAAAGATCTCACTGTGGGGGGTCTGGGCTTCTCCAGGGGAAGTTGGGGAACACCAGCTAGTCCATGACACCCTGGATTGCTTCCCCCAGATGGGGCATCTCTGCCTGGTACCCGGGCTGTGAGACAGGACAGGGCACTGTAGGGATGAGGTGCTGAACTGAGTCCTGTCTTGGTTAATAGGACAGTGCCAACAAGTTTGAGGAGAACACCTACTGCTTCGGCCGGACCGTGGAGACACTGCTGCTCCGCTTTGGCAAGGTAACCAGGCCCTCCCAGGCCTGGGTCGCAAGCGGTCCTCCAATTTGGCCAGCATTCATGAGACTACTTTTTGTCAAGCATCCTTTGGGACCAGGCCTAGAACAGAAATGTTGATCACCCTGGAGGGATGGGGTGGTGAGGTCAGGCTGACTTTGTCAGCCTGGGGCCCACTTAGCTACTCGGATGGGTACCCTTGCTGGGTGAGTTTTCTGCAGTGTTTTTCTGTGCACCTTTCAGGTAGAGAGGCTCCCTAGAATCGGGAGGGCAGCTCCACCTGGGGCCTGAATCTAGGGACCTGATTGGTGGGGCCCTTGCTGCTGAAGGTGGCAGTAGCACAGTAAGCACTGGCTTCTGGTCTCAGCCAAGCTTCTGGGACCTGGTCTTGCCTTAACCCCTCCCTGAATCTAGAGCTCAAAGAGAAGGGAAAACAGAAGGTGGCTGGGAGCCGTTCTCCCACAACCTGAAGAGAAAGGTGTTATTGACTCCACTTTCTCAAGGAACACAGGAGACTAAGACAGGCAAAGATGCAGCCCAGGGAGGGACCATGTGGGGGACTGGTCTAGGTAGTGAGTCCCCACTTGGAGCCTCTGTGATCCCAGACCATCATGGAGGAGCAGCTGGTACTGAAGCGGGTGGCCAACATCCTCATCAACCTGTATGGCATGACGGCCGTGCTGTCGCGGGCCAGCCGCTCCATCCGCATTGGGCTCCGCAACCACGACGACGAGGTGAGCCCAGCCCAGCCTCACACAGGGCCTGGCTGCTGCCATCTGTCCTGCTGCACTTTAATGAAGTTGATTGTTGAGGAGGGTGTGGTCGGGTGTGGGGGAGGCTGTGCAGGTTCACCATGCGGTGGCCGTGGGAGGGTCTGTGCTGCTCAGGAGATGGGGCTGTTCCCTTTCTTCTTCCTGACTGAGAGAAGAGGGGGTGAGTGACAGGGGTTCCTGATCCCAGTGCCCCTACCCCCAGCAAGGGACAGACCCTGCACATTGCCCGCTGTGCTGGAGGGAGGCGGGTGCAGTCTCTGAGGACCCACTGTATACCAGGATCTCTGCCTGCACTTTCCAGAGCACCTGCAGATACCAGGATTGTGACATCTGCCTTTCAGAGGAAACAGGGTCAGAGATGTTGAGTCACTTGCTGTTGGGGAAAGGCTGTTGGATCAGGGCTGGAATTAGAACCCAAGACGGGGTGACTCCTGTGCCAGGCCTTGTGACCCCTGCCATGCTACCCAGTTTGGCTGATAGGCTGGGTTTTTGAAGCTCAGAGGTCTGATTCCAGGAATTTGGGCATATCTTTTCTGTCCTCGGTTCTGGCAGGTTCTCTTGGCCAACACCTTCTGCGTGGAAGCTTACTTGCAGAATCTCTTCAGCCTCTCTCAGCTGGACAAGTGTGAGTGGCATGTCTTGGGGGAGGGAAGGAAGGGCCCACTTCTAGGCCCCTATTGATGGTGAGCTGTTTCTGGACCCTGTCAAGCTCCCAGAGCCTGCTAGCTACTCACAGACCTCTGCCTTGAGCGAGGGCCTGGGTAGGCCTGGGCTTAGCTGCAGCAGTGCCCACCAGGCACTGTAGGTGCATACCTGCCCCATTCACCAAGGCAGTTGTATGTATATATGTGTGTGTGTGTATGTATGTATGTATGTATTTATTTCGAGATGGAGTTTCGCTCTTGTTGCCCAAGCTGGAGTGTAATGGCGCAGTCTTGGCTCCCTGCAAACTCCACCTCTTGGGTTCAAGCGATTCTTCTGCCCCAGCCTCCCGAGTAGCTGGGATTACAGGCGCACGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACAGGGTTTCACCATGTTAGCCAGGCTGGTCTCCAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCAAAAATGCTGGGATTACAGGCATGAGCCACCGCACCGGGCCTGCCAAGGCAATTTTAGATTGAGCAAGTGCAGAGCCCTTTGCGCAGGACCCCTGGCATCTGCCCAGCATGCCTGGCTGTATTCTCTTTTTTTTGGAGACATAGTCTCACTTTGTCACCCAGGCTGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAACTCCTGTGCCTCAGCCTCCTGAGTAGTTGGGATTATAGGCACGCACCACCATGCCCAGCTAATATTTGTATTTTTAGTAGAAACAAACAGGGTTTCACCATGTTGGCCAAGCTGGTCTCCAACCCCTGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCAGCCCTGGCTGTATTCTTGAAGCTGCCCGGGGAAGGCTCACGAAGGGAGGAGCATCTGGTTGTACCTGATTCTGGAGACAGCATTTTACCTGCCCCTTTACCCACTGTACTCCATCCAAAATGACCCTGCAGTGCCCTGCAGAGGTCTCAGGCCTTGGCCTAGAGAACAGAGGGCTTTGCTCGTGCTCCCCGCTCTGTCTGCAGTGCTCTTCCTCTTCTATAGCCACTCGACCATATCTAGGAATGCCCAGCTCAGTCTACCTCTGACCCTCACAGTCCTGTTGACCTGAGGTTCTGGATCAGTGTCCCCACAAAGCCCAGTCGTGTTGCCAAGTGATGGGTGTAGGCGCCAGCACTGTGGCACTTGCTGAGAGTGGCATATGATTTTTTGCAGGTCCTAGCCCTGGGGGTAGCCCAGACACCCCCCCAGTGCTGACAGGTTATGTGCTGTGGA
Task1_train_7515
This variant affects the gene GP9 (glycoprotein IX platelet) found on Chromosome 3. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; not provided
CTACCCAAATCCAGAACCAGGAGGCGGGGAGAGAACAGGCGGCCTCCCAAGGAAGGACTCACCCTGCTTGGCCATGCAGGAGGAGGAAGGCTGGCCTGAGAAGGATGTGAGACCAAAATAAGAACAAGCACACCCCCACCCCCGTAGGGCCGAGGAATATTCCCGAGGGTCCTGAATGTCAACGAAGTGCGTTTAAAGCCTCCGTCAGCCTTCTGTCTTTGGCTTTTCCTGCCAGGCTTCTGTAACTTCTGTGTTTTTACCCTGTTTTATTTATTTTTTAAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCACGGTCTCGGCTCACTGCCACCTCTGCCTCCTGGGTTCAAGCAATTCTCCATCCCAAAATATATTTATCTTTTAAAGGAAGCTTTATGTCACTAACATAAATGGAAAATGGTGTCCCTCCCCTAAGTAGAATGTGCTCTAGAAGAAAATGTACTGCAAATGTTAAAACCATAGGCCAAAATTCTAGCTAGAGATTCACACTTGGTAGAGGCTCTGCTTCCCAGGCCTACAGCTGTTTGTTAGAAAGAGGCATGGAGAAGCACTAGGCAGGAGCTAAAAACACCATGGCACCAAGAAGAGACTCCGTCCTTGAGTATACAGGAGGAGGGAGGAGAGTTAAAAATGAAGTCACTCTCCCCACCATGGTGTTCTCAGCCAGTGGGAGCTGCCCAGCCCACACCTCTGTGAGGCAGGCAGGACCGGTCACTGCTCCCACTTTACAGATGAGGAAAACTGAGATTCGGAGGAACAACCAGCAGAGCCACGTTTCTCAGGGGTCTCCTAGTTCCCACCTTCTGGGAGCAGGTGAGGGGCCACCCTCAGTCCTCCACAGACCTGATTCCAAAGCCCATCAAGGCACTGGCGGCACAGTGGGACCCCCTTCTATAAACCGGGGTTGAGATGTGGTTCTGTGCCCAAGGCGCGGGCCCCTGAGGGCCTCCTGCCTCTGGAAATAGGCCCCAAGGCTGCACTGGGGGGATAAGCCAGGCTATTTTCATCACTTCCTTCCGCCCGCTCCCGCAGCGGCCACCTCAGCTGTATCCCATAGAGTTGCCACCCAGGCCTCAGCCAGGACCTTTCAGGCCAGACAGGAGCACCTGACCAAAGGCTTCACAGGTAAGTGGCCCTCCGTATTACCCAGCATGGCCTCCCACAGGGAGAGAGGAGGTCAGTTCCTGTCCCTTTAACAAGACAGGGTTGGGTGGGACATTCCCTCTGAGACACCATCTCCTTGGCTGAGTCAAGATGAGTGAGTTGATTTGACACTTATTCACTGGAAACCTGCTGTGGGTAGGGGGAGCTCTGCTGGTGGAGGGGAAACGCCTGTGGGGAAGAACCAAACAGAGGGCCACGGTTGCCGAGACCCGAGTGTGAGTCTGGCCTCTGACACCACACCGGTGGCCCTGGGCACATTGCTTTCCCTCTCTGGGCCTCAGTTTCCCCAAGTCAGTGTTAGCCCAGATGAGTGGTTTTCCAGATGGGGTCCCACTGAGTTCCCCTCCCTGCTCCAGCCAGTGTCCCTGTCCTGCTGTCTTCTGCATCTGGGAATCAGGTAACAGCTCACTTAGCTGGTGGGGGGTGCTGGGCGCAGCCTGCAGGGCCCTCCAAGGCTCTTTCCTAGTCTCTGGGGACTGTGGTCCTGGGCTGGGACTCATTTAGCAGCCATCTGCTCCTCTCATCCCCAAGCAGGGGATGGGGTCTCTGCTAAGGGCCAGGAAGTCCCTTCCCCTTCCCAAAAACAAACTTACCCAATCCACAGCCGCCCTCACCGCCCGGCCTTCTACGGTGTCCAGAGACAGTTAGCCAGGCCTGGGCTGGGCACACTCCACCTTCCCTAGTCACCAGCTGGTTTCCCAGAGGAGAAGGCTGAGACCCGAGAAGGGAGGTGAGTGCACCCCGTCCCATGTCAGGCTCCGCTACATCCCCAGTGCTTGCCGTCCCTGAGGATCGGTCCAGGCTGCCAGGCCCTCCCTCACAGCCCCTCTCTCTGCAGCCAGCCTGTCCCATGCCTGCCTGGGGAGCCCTGTTCCTGCTCTGGGCCACAGCAGAGGCCACCAAGGACTGCCCCAGCCCATGTACCTGCCGCGCCCTGGAAACCATGGGGCTGTGGGTGGACTGCAGGGGCCACGGACTCACGGCCCTGCCTGCCCTGCCGGCCCGCACCCGCCACCTTCTGCTGGCCAACAACAGCCTTCAGTCCGTGCCCCCGGGAGCCTTTGACCACCTGCCCCAGCTGCAGACCCTCGATGTGACGCAGAACCCCTGGCACTGTGACTGCAGCCTCACCTATCTGCGCCTCTGGCTGGAGGACCGCACGCCCGAGGCCCTGCTGCAGGTCCGCTGTGCCAGCCCCAGCCTCGCTGCCCATGGCCCGCTGGGCCGGCTGACAGGCTACCAGCTGGGCAGCTGTGGCTGGCAGCTGCAGGCGTCCTGGGTGCGCCCGGGGGTCTTGTGGGACGTGGCGCTGGTCGCCGTGGCCGCGCTGGGCCTGGCTCTTCTGGCTGGCCTGCTGTGTGCCACCACAGAGGCCCTGGATTGAGCCAGGCCCCCAGAACCCCTGGCTCCAGGCCAGGGGGCCAGTCCCTGAGGCAGGTCCCCAGACTCCACCAAGCCTGGTCAGCCCAAACCACCAGAAGCCCAGAATAAACTGGCAGCTCAGCTGTTTTATATAAGCTCAGAGATTTTTTTTTTTTCCCCTCTCAGCATTTGAGTCTGACTCCTTCTGAAAACCTGGCTCGATTTTGTTATAACCAGACATCAGTTGGGGCTTCCCTGTTTCTCAAGTTGTTAGTAAAATGGGCTGCCCACCTCCCCCACCCTTCACCCTTAACTGCACAGTCTCTGGACATCTCAAGCCAGGACCTGGGACTCTGGGTCTCATGGCCTCAGCCGTCTGCTTCTGGTGTGGGCCACCCTGGACAGGCCAGGCCAGCTTTGCACCGGGGCCAGCCCTCACCACATTCCCCAGAAATCTCGCTCTTCCAGCACGGTAGTGAGCAGAGCAGGGTGTCCCAAAGGCCCCTGGAGGGAGGAGAGGAGGGGTTTCCATCCCCACGACAGAAATGGCTTGGCGGGCCCTTTTCCATCACGGCCTCTGACCACTCCACCTTGGCTGTGAGGCTGCCAGGGCGCACCTGGCCCCATCCTCTCCTCCGTCTTCTCTCTCCTTTTTCTCCTCTCTACTCTTCTCCACAAACAAGACAAATCTCTCTATTTCTCATGGAAAACAAGCTCCTACAGGGCTAACATCTGCACCTCCAAACCCTGGGGTCCCCCTCCTACCCCAAGCCCTGATCACCAAATCCTTCAAACAAGGCAACTCTCCCCCTCTGAGGAATCCTGGTGCCAGATGTTAAAATCATAAACTTTTCTCCACCACATGAGGTAACATTTATGGGCCTGTTACTGGCCAAGCCAAATCCAAATATAATTACACGAGGACCCCACCCCTTGAGGGGTTCCATGTGTAACCAGCAGACCAGCCTGGGTGGGCCTGTGGGTCGGAAGATTCCACCAGGTAGCCCAAGCGGGTGCAGAGTGCAGCTGGAGGGCACTGACTCACAGAGCTCAGGTGGGAGCAGGAGCCCCAAACCCAGAGGTGGGGGCCAGTAAGAAGTGATAGGGAATGTGGCAAACCAGGGAGCCTGTGTTCCATCCAGAGGGGCTCAGCCGATTGCCACCATGTGGAGGAGATGGGGGCCCAGGTGCCAGGCGTCCAGTTCTTCCAGAGAGGTCAGAAGGCTAGATTGTTACATGAACTCTCTAAAGTCTTTAAGTGTTGGCAACTAAATAAGAAATTTTAAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTCTGGAAGGCCGAGGTGGGCGGATCACCTGAGGTCAGAAGTTCAAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAACAAATTAGCTGGGTGTGGTGGTGTGTGCCTGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCGCTTGAACGCGAGAGGCGGAGGTTGCAGTGAGCCCAGATCGCGCCACTGCACT
CTACCCAAATCCAGAACCAGGAGGCGGGGAGAGAACAGGCGGCCTCCCAAGGAAGGACTCACCCTGCTTGGCCATGCAGGAGGAGGAAGGCTGGCCTGAGAAGGATGTGAGACCAAAATAAGAACAAGCACACCCCCACCCCCGTAGGGCCGAGGAATATTCCCGAGGGTCCTGAATGTCAACGAAGTGCGTTTAAAGCCTCCGTCAGCCTTCTGTCTTTGGCTTTTCCTGCCAGGCTTCTGTAACTTCTGTGTTTTTACCCTGTTTTATTTATTTTTTAAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCACGGTCTCGGCTCACTGCCACCTCTGCCTCCTGGGTTCAAGCAATTCTCCATCCCAAAATATATTTATCTTTTAAAGGAAGCTTTATGTCACTAACATAAATGGAAAATGGTGTCCCTCCCCTAAGTAGAATGTGCTCTAGAAGAAAATGTACTGCAAATGTTAAAACCATAGGCCAAAATTCTAGCTAGAGATTCACACTTGGTAGAGGCTCTGCTTCCCAGGCCTACAGCTGTTTGTTAGAAAGAGGCATGGAGAAGCACTAGGCAGGAGCTAAAAACACCATGGCACCAAGAAGAGACTCCGTCCTTGAGTATACAGGAGGAGGGAGGAGAGTTAAAAATGAAGTCACTCTCCCCACCATGGTGTTCTCAGCCAGTGGGAGCTGCCCAGCCCACACCTCTGTGAGGCAGGCAGGACCGGTCACTGCTCCCACTTTACAGATGAGGAAAACTGAGATTCGGAGGAACAACCAGCAGAGCCACGTTTCTCAGGGGTCTCCTAGTTCCCACCTTCTGGGAGCAGGTGAGGGGCCACCCTCAGTCCTCCACAGACCTGATTCCAAAGCCCATCAAGGCACTGGCGGCACAGTGGGACCCCCTTCTATAAACCGGGGTTGAGATGTGGTTCTGTGCCCAAGGCGCGGGCCCCTGAGGGCCTCCTGCCTCTGGAAATAGGCCCCAAGGCTGCACTGGGGGGATAAGCCAGGCTATTTTCATCACTTCCTTCCGCCCGCTCCCGCAGCGGCCACCTCAGCTGTATCCCATAGAGTTGCCACCCAGGCCTCAGCCAGGACCTTTCAGGCCAGACAGGAGCACCTGACCAAAGGCTTCACAGGTAAGTGGCCCTCCGTATTACCCAGCATGGCCTCCCACAGGGAGAGAGGAGGTCAGTTCCTGTCCCTTTAACAAGACAGGGTTGGGTGGGACATTCCCTCTGAGACACCATCTCCTTGGCTGAGTCAAGATGAGTGAGTTGATTTGACACTTATTCACTGGAAACCTGCTGTGGGTAGGGGGAGCTCTGCTGGTGGAGGGGAAACGCCTGTGGGGAAGAACCAAACAGAGGGCCACGGTTGCCGAGACCCGAGTGTGAGTCTGGCCTCTGACACCACACCGGTGGCCCTGGGCACATTGCTTTCCCTCTCTGGGCCTCAGTTTCCCCAAGTCAGTGTTAGCCCAGATGAGTGGTTTTCCAGATGGGGTCCCACTGAGTTCCCCTCCCTGCTCCAGCCAGTGTCCCTGTCCTGCTGTCTTCTGCATCTGGGAATCAGGTAACAGCTCACTTAGCTGGTGGGGGGTGCTGGGCGCAGCCTGCAGGGCCCTCCAAGGCTCTTTCCTAGTCTCTGGGGACTGTGGTCCTGGGCTGGGACTCATTTAGCAGCCATCTGCTCCTCTCATCCCCAAGCAGGGGATGGGGTCTCTGCTAAGGGCCAGGAAGTCCCTTCCCCTTCCCAAAAACAAACTTACCCAATCCACAGCCGCCCTCACCGCCCGGCCTTCTACGGTGTCCAGAGACAGTTAGCCAGGCCTGGGCTGGGCACACTCCACCTTCCCTAGTCACCAGCTGGTTTCCCAGAGGAGAAGGCTGAGACCCGAGAAGGGAGGTGAGTGCACCCCGTCCCATGTCAGGCTCCGCTACATCCCCAGTGCTTGCCGTCCCTGAGGATCGGTCCAGGCTGCCAGGCCCTCCCTCACAGCCCCTCTCTCTGCAGCCAGCCTGTCCCACGCCTGCCTGGGGAGCCCTGTTCCTGCTCTGGGCCACAGCAGAGGCCACCAAGGACTGCCCCAGCCCATGTACCTGCCGCGCCCTGGAAACCATGGGGCTGTGGGTGGACTGCAGGGGCCACGGACTCACGGCCCTGCCTGCCCTGCCGGCCCGCACCCGCCACCTTCTGCTGGCCAACAACAGCCTTCAGTCCGTGCCCCCGGGAGCCTTTGACCACCTGCCCCAGCTGCAGACCCTCGATGTGACGCAGAACCCCTGGCACTGTGACTGCAGCCTCACCTATCTGCGCCTCTGGCTGGAGGACCGCACGCCCGAGGCCCTGCTGCAGGTCCGCTGTGCCAGCCCCAGCCTCGCTGCCCATGGCCCGCTGGGCCGGCTGACAGGCTACCAGCTGGGCAGCTGTGGCTGGCAGCTGCAGGCGTCCTGGGTGCGCCCGGGGGTCTTGTGGGACGTGGCGCTGGTCGCCGTGGCCGCGCTGGGCCTGGCTCTTCTGGCTGGCCTGCTGTGTGCCACCACAGAGGCCCTGGATTGAGCCAGGCCCCCAGAACCCCTGGCTCCAGGCCAGGGGGCCAGTCCCTGAGGCAGGTCCCCAGACTCCACCAAGCCTGGTCAGCCCAAACCACCAGAAGCCCAGAATAAACTGGCAGCTCAGCTGTTTTATATAAGCTCAGAGATTTTTTTTTTTTCCCCTCTCAGCATTTGAGTCTGACTCCTTCTGAAAACCTGGCTCGATTTTGTTATAACCAGACATCAGTTGGGGCTTCCCTGTTTCTCAAGTTGTTAGTAAAATGGGCTGCCCACCTCCCCCACCCTTCACCCTTAACTGCACAGTCTCTGGACATCTCAAGCCAGGACCTGGGACTCTGGGTCTCATGGCCTCAGCCGTCTGCTTCTGGTGTGGGCCACCCTGGACAGGCCAGGCCAGCTTTGCACCGGGGCCAGCCCTCACCACATTCCCCAGAAATCTCGCTCTTCCAGCACGGTAGTGAGCAGAGCAGGGTGTCCCAAAGGCCCCTGGAGGGAGGAGAGGAGGGGTTTCCATCCCCACGACAGAAATGGCTTGGCGGGCCCTTTTCCATCACGGCCTCTGACCACTCCACCTTGGCTGTGAGGCTGCCAGGGCGCACCTGGCCCCATCCTCTCCTCCGTCTTCTCTCTCCTTTTTCTCCTCTCTACTCTTCTCCACAAACAAGACAAATCTCTCTATTTCTCATGGAAAACAAGCTCCTACAGGGCTAACATCTGCACCTCCAAACCCTGGGGTCCCCCTCCTACCCCAAGCCCTGATCACCAAATCCTTCAAACAAGGCAACTCTCCCCCTCTGAGGAATCCTGGTGCCAGATGTTAAAATCATAAACTTTTCTCCACCACATGAGGTAACATTTATGGGCCTGTTACTGGCCAAGCCAAATCCAAATATAATTACACGAGGACCCCACCCCTTGAGGGGTTCCATGTGTAACCAGCAGACCAGCCTGGGTGGGCCTGTGGGTCGGAAGATTCCACCAGGTAGCCCAAGCGGGTGCAGAGTGCAGCTGGAGGGCACTGACTCACAGAGCTCAGGTGGGAGCAGGAGCCCCAAACCCAGAGGTGGGGGCCAGTAAGAAGTGATAGGGAATGTGGCAAACCAGGGAGCCTGTGTTCCATCCAGAGGGGCTCAGCCGATTGCCACCATGTGGAGGAGATGGGGGCCCAGGTGCCAGGCGTCCAGTTCTTCCAGAGAGGTCAGAAGGCTAGATTGTTACATGAACTCTCTAAAGTCTTTAAGTGTTGGCAACTAAATAAGAAATTTTAAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTCTGGAAGGCCGAGGTGGGCGGATCACCTGAGGTCAGAAGTTCAAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAACAAATTAGCTGGGTGTGGTGGTGTGTGCCTGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCGCTTGAACGCGAGAGGCGGAGGTTGCAGTGAGCCCAGATCGCGCCACTGCACT
Task1_train_7516
A genetic alteration is present in GP9 (glycoprotein IX platelet) on Chromosome 3. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; not provided
AGGAGGCGGGGAGAGAACAGGCGGCCTCCCAAGGAAGGACTCACCCTGCTTGGCCATGCAGGAGGAGGAAGGCTGGCCTGAGAAGGATGTGAGACCAAAATAAGAACAAGCACACCCCCACCCCCGTAGGGCCGAGGAATATTCCCGAGGGTCCTGAATGTCAACGAAGTGCGTTTAAAGCCTCCGTCAGCCTTCTGTCTTTGGCTTTTCCTGCCAGGCTTCTGTAACTTCTGTGTTTTTACCCTGTTTTATTTATTTTTTAAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCACGGTCTCGGCTCACTGCCACCTCTGCCTCCTGGGTTCAAGCAATTCTCCATCCCAAAATATATTTATCTTTTAAAGGAAGCTTTATGTCACTAACATAAATGGAAAATGGTGTCCCTCCCCTAAGTAGAATGTGCTCTAGAAGAAAATGTACTGCAAATGTTAAAACCATAGGCCAAAATTCTAGCTAGAGATTCACACTTGGTAGAGGCTCTGCTTCCCAGGCCTACAGCTGTTTGTTAGAAAGAGGCATGGAGAAGCACTAGGCAGGAGCTAAAAACACCATGGCACCAAGAAGAGACTCCGTCCTTGAGTATACAGGAGGAGGGAGGAGAGTTAAAAATGAAGTCACTCTCCCCACCATGGTGTTCTCAGCCAGTGGGAGCTGCCCAGCCCACACCTCTGTGAGGCAGGCAGGACCGGTCACTGCTCCCACTTTACAGATGAGGAAAACTGAGATTCGGAGGAACAACCAGCAGAGCCACGTTTCTCAGGGGTCTCCTAGTTCCCACCTTCTGGGAGCAGGTGAGGGGCCACCCTCAGTCCTCCACAGACCTGATTCCAAAGCCCATCAAGGCACTGGCGGCACAGTGGGACCCCCTTCTATAAACCGGGGTTGAGATGTGGTTCTGTGCCCAAGGCGCGGGCCCCTGAGGGCCTCCTGCCTCTGGAAATAGGCCCCAAGGCTGCACTGGGGGGATAAGCCAGGCTATTTTCATCACTTCCTTCCGCCCGCTCCCGCAGCGGCCACCTCAGCTGTATCCCATAGAGTTGCCACCCAGGCCTCAGCCAGGACCTTTCAGGCCAGACAGGAGCACCTGACCAAAGGCTTCACAGGTAAGTGGCCCTCCGTATTACCCAGCATGGCCTCCCACAGGGAGAGAGGAGGTCAGTTCCTGTCCCTTTAACAAGACAGGGTTGGGTGGGACATTCCCTCTGAGACACCATCTCCTTGGCTGAGTCAAGATGAGTGAGTTGATTTGACACTTATTCACTGGAAACCTGCTGTGGGTAGGGGGAGCTCTGCTGGTGGAGGGGAAACGCCTGTGGGGAAGAACCAAACAGAGGGCCACGGTTGCCGAGACCCGAGTGTGAGTCTGGCCTCTGACACCACACCGGTGGCCCTGGGCACATTGCTTTCCCTCTCTGGGCCTCAGTTTCCCCAAGTCAGTGTTAGCCCAGATGAGTGGTTTTCCAGATGGGGTCCCACTGAGTTCCCCTCCCTGCTCCAGCCAGTGTCCCTGTCCTGCTGTCTTCTGCATCTGGGAATCAGGTAACAGCTCACTTAGCTGGTGGGGGGTGCTGGGCGCAGCCTGCAGGGCCCTCCAAGGCTCTTTCCTAGTCTCTGGGGACTGTGGTCCTGGGCTGGGACTCATTTAGCAGCCATCTGCTCCTCTCATCCCCAAGCAGGGGATGGGGTCTCTGCTAAGGGCCAGGAAGTCCCTTCCCCTTCCCAAAAACAAACTTACCCAATCCACAGCCGCCCTCACCGCCCGGCCTTCTACGGTGTCCAGAGACAGTTAGCCAGGCCTGGGCTGGGCACACTCCACCTTCCCTAGTCACCAGCTGGTTTCCCAGAGGAGAAGGCTGAGACCCGAGAAGGGAGGTGAGTGCACCCCGTCCCATGTCAGGCTCCGCTACATCCCCAGTGCTTGCCGTCCCTGAGGATCGGTCCAGGCTGCCAGGCCCTCCCTCACAGCCCCTCTCTCTGCAGCCAGCCTGTCCCATGCCTGCCTGGGGAGCCCTGTTCCTGCTCTGGGCCACAGCAGAGGCCACCAAGGACTGCCCCAGCCCATGTACCTGCCGCGCCCTGGAAACCATGGGGCTGTGGGTGGACTGCAGGGGCCACGGACTCACGGCCCTGCCTGCCCTGCCGGCCCGCACCCGCCACCTTCTGCTGGCCAACAACAGCCTTCAGTCCGTGCCCCCGGGAGCCTTTGACCACCTGCCCCAGCTGCAGACCCTCGATGTGACGCAGAACCCCTGGCACTGTGACTGCAGCCTCACCTATCTGCGCCTCTGGCTGGAGGACCGCACGCCCGAGGCCCTGCTGCAGGTCCGCTGTGCCAGCCCCAGCCTCGCTGCCCATGGCCCGCTGGGCCGGCTGACAGGCTACCAGCTGGGCAGCTGTGGCTGGCAGCTGCAGGCGTCCTGGGTGCGCCCGGGGGTCTTGTGGGACGTGGCGCTGGTCGCCGTGGCCGCGCTGGGCCTGGCTCTTCTGGCTGGCCTGCTGTGTGCCACCACAGAGGCCCTGGATTGAGCCAGGCCCCCAGAACCCCTGGCTCCAGGCCAGGGGGCCAGTCCCTGAGGCAGGTCCCCAGACTCCACCAAGCCTGGTCAGCCCAAACCACCAGAAGCCCAGAATAAACTGGCAGCTCAGCTGTTTTATATAAGCTCAGAGATTTTTTTTTTTTCCCCTCTCAGCATTTGAGTCTGACTCCTTCTGAAAACCTGGCTCGATTTTGTTATAACCAGACATCAGTTGGGGCTTCCCTGTTTCTCAAGTTGTTAGTAAAATGGGCTGCCCACCTCCCCCACCCTTCACCCTTAACTGCACAGTCTCTGGACATCTCAAGCCAGGACCTGGGACTCTGGGTCTCATGGCCTCAGCCGTCTGCTTCTGGTGTGGGCCACCCTGGACAGGCCAGGCCAGCTTTGCACCGGGGCCAGCCCTCACCACATTCCCCAGAAATCTCGCTCTTCCAGCACGGTAGTGAGCAGAGCAGGGTGTCCCAAAGGCCCCTGGAGGGAGGAGAGGAGGGGTTTCCATCCCCACGACAGAAATGGCTTGGCGGGCCCTTTTCCATCACGGCCTCTGACCACTCCACCTTGGCTGTGAGGCTGCCAGGGCGCACCTGGCCCCATCCTCTCCTCCGTCTTCTCTCTCCTTTTTCTCCTCTCTACTCTTCTCCACAAACAAGACAAATCTCTCTATTTCTCATGGAAAACAAGCTCCTACAGGGCTAACATCTGCACCTCCAAACCCTGGGGTCCCCCTCCTACCCCAAGCCCTGATCACCAAATCCTTCAAACAAGGCAACTCTCCCCCTCTGAGGAATCCTGGTGCCAGATGTTAAAATCATAAACTTTTCTCCACCACATGAGGTAACATTTATGGGCCTGTTACTGGCCAAGCCAAATCCAAATATAATTACACGAGGACCCCACCCCTTGAGGGGTTCCATGTGTAACCAGCAGACCAGCCTGGGTGGGCCTGTGGGTCGGAAGATTCCACCAGGTAGCCCAAGCGGGTGCAGAGTGCAGCTGGAGGGCACTGACTCACAGAGCTCAGGTGGGAGCAGGAGCCCCAAACCCAGAGGTGGGGGCCAGTAAGAAGTGATAGGGAATGTGGCAAACCAGGGAGCCTGTGTTCCATCCAGAGGGGCTCAGCCGATTGCCACCATGTGGAGGAGATGGGGGCCCAGGTGCCAGGCGTCCAGTTCTTCCAGAGAGGTCAGAAGGCTAGATTGTTACATGAACTCTCTAAAGTCTTTAAGTGTTGGCAACTAAATAAGAAATTTTAAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTCTGGAAGGCCGAGGTGGGCGGATCACCTGAGGTCAGAAGTTCAAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAACAAATTAGCTGGGTGTGGTGGTGTGTGCCTGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCGCTTGAACGCGAGAGGCGGAGGTTGCAGTGAGCCCAGATCGCGCCACTGCACTCTAGCCTGGGCAACAAGA
AGGAGGCGGGGAGAGAACAGGCGGCCTCCCAAGGAAGGACTCACCCTGCTTGGCCATGCAGGAGGAGGAAGGCTGGCCTGAGAAGGATGTGAGACCAAAATAAGAACAAGCACACCCCCACCCCCGTAGGGCCGAGGAATATTCCCGAGGGTCCTGAATGTCAACGAAGTGCGTTTAAAGCCTCCGTCAGCCTTCTGTCTTTGGCTTTTCCTGCCAGGCTTCTGTAACTTCTGTGTTTTTACCCTGTTTTATTTATTTTTTAAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCACGGTCTCGGCTCACTGCCACCTCTGCCTCCTGGGTTCAAGCAATTCTCCATCCCAAAATATATTTATCTTTTAAAGGAAGCTTTATGTCACTAACATAAATGGAAAATGGTGTCCCTCCCCTAAGTAGAATGTGCTCTAGAAGAAAATGTACTGCAAATGTTAAAACCATAGGCCAAAATTCTAGCTAGAGATTCACACTTGGTAGAGGCTCTGCTTCCCAGGCCTACAGCTGTTTGTTAGAAAGAGGCATGGAGAAGCACTAGGCAGGAGCTAAAAACACCATGGCACCAAGAAGAGACTCCGTCCTTGAGTATACAGGAGGAGGGAGGAGAGTTAAAAATGAAGTCACTCTCCCCACCATGGTGTTCTCAGCCAGTGGGAGCTGCCCAGCCCACACCTCTGTGAGGCAGGCAGGACCGGTCACTGCTCCCACTTTACAGATGAGGAAAACTGAGATTCGGAGGAACAACCAGCAGAGCCACGTTTCTCAGGGGTCTCCTAGTTCCCACCTTCTGGGAGCAGGTGAGGGGCCACCCTCAGTCCTCCACAGACCTGATTCCAAAGCCCATCAAGGCACTGGCGGCACAGTGGGACCCCCTTCTATAAACCGGGGTTGAGATGTGGTTCTGTGCCCAAGGCGCGGGCCCCTGAGGGCCTCCTGCCTCTGGAAATAGGCCCCAAGGCTGCACTGGGGGGATAAGCCAGGCTATTTTCATCACTTCCTTCCGCCCGCTCCCGCAGCGGCCACCTCAGCTGTATCCCATAGAGTTGCCACCCAGGCCTCAGCCAGGACCTTTCAGGCCAGACAGGAGCACCTGACCAAAGGCTTCACAGGTAAGTGGCCCTCCGTATTACCCAGCATGGCCTCCCACAGGGAGAGAGGAGGTCAGTTCCTGTCCCTTTAACAAGACAGGGTTGGGTGGGACATTCCCTCTGAGACACCATCTCCTTGGCTGAGTCAAGATGAGTGAGTTGATTTGACACTTATTCACTGGAAACCTGCTGTGGGTAGGGGGAGCTCTGCTGGTGGAGGGGAAACGCCTGTGGGGAAGAACCAAACAGAGGGCCACGGTTGCCGAGACCCGAGTGTGAGTCTGGCCTCTGACACCACACCGGTGGCCCTGGGCACATTGCTTTCCCTCTCTGGGCCTCAGTTTCCCCAAGTCAGTGTTAGCCCAGATGAGTGGTTTTCCAGATGGGGTCCCACTGAGTTCCCCTCCCTGCTCCAGCCAGTGTCCCTGTCCTGCTGTCTTCTGCATCTGGGAATCAGGTAACAGCTCACTTAGCTGGTGGGGGGTGCTGGGCGCAGCCTGCAGGGCCCTCCAAGGCTCTTTCCTAGTCTCTGGGGACTGTGGTCCTGGGCTGGGACTCATTTAGCAGCCATCTGCTCCTCTCATCCCCAAGCAGGGGATGGGGTCTCTGCTAAGGGCCAGGAAGTCCCTTCCCCTTCCCAAAAACAAACTTACCCAATCCACAGCCGCCCTCACCGCCCGGCCTTCTACGGTGTCCAGAGACAGTTAGCCAGGCCTGGGCTGGGCACACTCCACCTTCCCTAGTCACCAGCTGGTTTCCCAGAGGAGAAGGCTGAGACCCGAGAAGGGAGGTGAGTGCACCCCGTCCCATGTCAGGCTCCGCTACATCCCCAGTGCTTGCCGTCCCTGAGGATCGGTCCAGGCTGCCAGGCCCTCCCTCACAGCCCCTCTCTCTGCAGCCAGCCTGTCCCATGCCTGCCTGGGGAGCCCCGTTCCTGCTCTGGGCCACAGCAGAGGCCACCAAGGACTGCCCCAGCCCATGTACCTGCCGCGCCCTGGAAACCATGGGGCTGTGGGTGGACTGCAGGGGCCACGGACTCACGGCCCTGCCTGCCCTGCCGGCCCGCACCCGCCACCTTCTGCTGGCCAACAACAGCCTTCAGTCCGTGCCCCCGGGAGCCTTTGACCACCTGCCCCAGCTGCAGACCCTCGATGTGACGCAGAACCCCTGGCACTGTGACTGCAGCCTCACCTATCTGCGCCTCTGGCTGGAGGACCGCACGCCCGAGGCCCTGCTGCAGGTCCGCTGTGCCAGCCCCAGCCTCGCTGCCCATGGCCCGCTGGGCCGGCTGACAGGCTACCAGCTGGGCAGCTGTGGCTGGCAGCTGCAGGCGTCCTGGGTGCGCCCGGGGGTCTTGTGGGACGTGGCGCTGGTCGCCGTGGCCGCGCTGGGCCTGGCTCTTCTGGCTGGCCTGCTGTGTGCCACCACAGAGGCCCTGGATTGAGCCAGGCCCCCAGAACCCCTGGCTCCAGGCCAGGGGGCCAGTCCCTGAGGCAGGTCCCCAGACTCCACCAAGCCTGGTCAGCCCAAACCACCAGAAGCCCAGAATAAACTGGCAGCTCAGCTGTTTTATATAAGCTCAGAGATTTTTTTTTTTTCCCCTCTCAGCATTTGAGTCTGACTCCTTCTGAAAACCTGGCTCGATTTTGTTATAACCAGACATCAGTTGGGGCTTCCCTGTTTCTCAAGTTGTTAGTAAAATGGGCTGCCCACCTCCCCCACCCTTCACCCTTAACTGCACAGTCTCTGGACATCTCAAGCCAGGACCTGGGACTCTGGGTCTCATGGCCTCAGCCGTCTGCTTCTGGTGTGGGCCACCCTGGACAGGCCAGGCCAGCTTTGCACCGGGGCCAGCCCTCACCACATTCCCCAGAAATCTCGCTCTTCCAGCACGGTAGTGAGCAGAGCAGGGTGTCCCAAAGGCCCCTGGAGGGAGGAGAGGAGGGGTTTCCATCCCCACGACAGAAATGGCTTGGCGGGCCCTTTTCCATCACGGCCTCTGACCACTCCACCTTGGCTGTGAGGCTGCCAGGGCGCACCTGGCCCCATCCTCTCCTCCGTCTTCTCTCTCCTTTTTCTCCTCTCTACTCTTCTCCACAAACAAGACAAATCTCTCTATTTCTCATGGAAAACAAGCTCCTACAGGGCTAACATCTGCACCTCCAAACCCTGGGGTCCCCCTCCTACCCCAAGCCCTGATCACCAAATCCTTCAAACAAGGCAACTCTCCCCCTCTGAGGAATCCTGGTGCCAGATGTTAAAATCATAAACTTTTCTCCACCACATGAGGTAACATTTATGGGCCTGTTACTGGCCAAGCCAAATCCAAATATAATTACACGAGGACCCCACCCCTTGAGGGGTTCCATGTGTAACCAGCAGACCAGCCTGGGTGGGCCTGTGGGTCGGAAGATTCCACCAGGTAGCCCAAGCGGGTGCAGAGTGCAGCTGGAGGGCACTGACTCACAGAGCTCAGGTGGGAGCAGGAGCCCCAAACCCAGAGGTGGGGGCCAGTAAGAAGTGATAGGGAATGTGGCAAACCAGGGAGCCTGTGTTCCATCCAGAGGGGCTCAGCCGATTGCCACCATGTGGAGGAGATGGGGGCCCAGGTGCCAGGCGTCCAGTTCTTCCAGAGAGGTCAGAAGGCTAGATTGTTACATGAACTCTCTAAAGTCTTTAAGTGTTGGCAACTAAATAAGAAATTTTAAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTCTGGAAGGCCGAGGTGGGCGGATCACCTGAGGTCAGAAGTTCAAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAACAAATTAGCTGGGTGTGGTGGTGTGTGCCTGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCGCTTGAACGCGAGAGGCGGAGGTTGCAGTGAGCCCAGATCGCGCCACTGCACTCTAGCCTGGGCAACAAGA
Task1_train_7517
This mutation occurs in GP9 (glycoprotein IX platelet) on Chromosome 3. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Bernard Soulier syndrome
TGGCCATGCAGGAGGAGGAAGGCTGGCCTGAGAAGGATGTGAGACCAAAATAAGAACAAGCACACCCCCACCCCCGTAGGGCCGAGGAATATTCCCGAGGGTCCTGAATGTCAACGAAGTGCGTTTAAAGCCTCCGTCAGCCTTCTGTCTTTGGCTTTTCCTGCCAGGCTTCTGTAACTTCTGTGTTTTTACCCTGTTTTATTTATTTTTTAAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCACGGTCTCGGCTCACTGCCACCTCTGCCTCCTGGGTTCAAGCAATTCTCCATCCCAAAATATATTTATCTTTTAAAGGAAGCTTTATGTCACTAACATAAATGGAAAATGGTGTCCCTCCCCTAAGTAGAATGTGCTCTAGAAGAAAATGTACTGCAAATGTTAAAACCATAGGCCAAAATTCTAGCTAGAGATTCACACTTGGTAGAGGCTCTGCTTCCCAGGCCTACAGCTGTTTGTTAGAAAGAGGCATGGAGAAGCACTAGGCAGGAGCTAAAAACACCATGGCACCAAGAAGAGACTCCGTCCTTGAGTATACAGGAGGAGGGAGGAGAGTTAAAAATGAAGTCACTCTCCCCACCATGGTGTTCTCAGCCAGTGGGAGCTGCCCAGCCCACACCTCTGTGAGGCAGGCAGGACCGGTCACTGCTCCCACTTTACAGATGAGGAAAACTGAGATTCGGAGGAACAACCAGCAGAGCCACGTTTCTCAGGGGTCTCCTAGTTCCCACCTTCTGGGAGCAGGTGAGGGGCCACCCTCAGTCCTCCACAGACCTGATTCCAAAGCCCATCAAGGCACTGGCGGCACAGTGGGACCCCCTTCTATAAACCGGGGTTGAGATGTGGTTCTGTGCCCAAGGCGCGGGCCCCTGAGGGCCTCCTGCCTCTGGAAATAGGCCCCAAGGCTGCACTGGGGGGATAAGCCAGGCTATTTTCATCACTTCCTTCCGCCCGCTCCCGCAGCGGCCACCTCAGCTGTATCCCATAGAGTTGCCACCCAGGCCTCAGCCAGGACCTTTCAGGCCAGACAGGAGCACCTGACCAAAGGCTTCACAGGTAAGTGGCCCTCCGTATTACCCAGCATGGCCTCCCACAGGGAGAGAGGAGGTCAGTTCCTGTCCCTTTAACAAGACAGGGTTGGGTGGGACATTCCCTCTGAGACACCATCTCCTTGGCTGAGTCAAGATGAGTGAGTTGATTTGACACTTATTCACTGGAAACCTGCTGTGGGTAGGGGGAGCTCTGCTGGTGGAGGGGAAACGCCTGTGGGGAAGAACCAAACAGAGGGCCACGGTTGCCGAGACCCGAGTGTGAGTCTGGCCTCTGACACCACACCGGTGGCCCTGGGCACATTGCTTTCCCTCTCTGGGCCTCAGTTTCCCCAAGTCAGTGTTAGCCCAGATGAGTGGTTTTCCAGATGGGGTCCCACTGAGTTCCCCTCCCTGCTCCAGCCAGTGTCCCTGTCCTGCTGTCTTCTGCATCTGGGAATCAGGTAACAGCTCACTTAGCTGGTGGGGGGTGCTGGGCGCAGCCTGCAGGGCCCTCCAAGGCTCTTTCCTAGTCTCTGGGGACTGTGGTCCTGGGCTGGGACTCATTTAGCAGCCATCTGCTCCTCTCATCCCCAAGCAGGGGATGGGGTCTCTGCTAAGGGCCAGGAAGTCCCTTCCCCTTCCCAAAAACAAACTTACCCAATCCACAGCCGCCCTCACCGCCCGGCCTTCTACGGTGTCCAGAGACAGTTAGCCAGGCCTGGGCTGGGCACACTCCACCTTCCCTAGTCACCAGCTGGTTTCCCAGAGGAGAAGGCTGAGACCCGAGAAGGGAGGTGAGTGCACCCCGTCCCATGTCAGGCTCCGCTACATCCCCAGTGCTTGCCGTCCCTGAGGATCGGTCCAGGCTGCCAGGCCCTCCCTCACAGCCCCTCTCTCTGCAGCCAGCCTGTCCCATGCCTGCCTGGGGAGCCCTGTTCCTGCTCTGGGCCACAGCAGAGGCCACCAAGGACTGCCCCAGCCCATGTACCTGCCGCGCCCTGGAAACCATGGGGCTGTGGGTGGACTGCAGGGGCCACGGACTCACGGCCCTGCCTGCCCTGCCGGCCCGCACCCGCCACCTTCTGCTGGCCAACAACAGCCTTCAGTCCGTGCCCCCGGGAGCCTTTGACCACCTGCCCCAGCTGCAGACCCTCGATGTGACGCAGAACCCCTGGCACTGTGACTGCAGCCTCACCTATCTGCGCCTCTGGCTGGAGGACCGCACGCCCGAGGCCCTGCTGCAGGTCCGCTGTGCCAGCCCCAGCCTCGCTGCCCATGGCCCGCTGGGCCGGCTGACAGGCTACCAGCTGGGCAGCTGTGGCTGGCAGCTGCAGGCGTCCTGGGTGCGCCCGGGGGTCTTGTGGGACGTGGCGCTGGTCGCCGTGGCCGCGCTGGGCCTGGCTCTTCTGGCTGGCCTGCTGTGTGCCACCACAGAGGCCCTGGATTGAGCCAGGCCCCCAGAACCCCTGGCTCCAGGCCAGGGGGCCAGTCCCTGAGGCAGGTCCCCAGACTCCACCAAGCCTGGTCAGCCCAAACCACCAGAAGCCCAGAATAAACTGGCAGCTCAGCTGTTTTATATAAGCTCAGAGATTTTTTTTTTTTCCCCTCTCAGCATTTGAGTCTGACTCCTTCTGAAAACCTGGCTCGATTTTGTTATAACCAGACATCAGTTGGGGCTTCCCTGTTTCTCAAGTTGTTAGTAAAATGGGCTGCCCACCTCCCCCACCCTTCACCCTTAACTGCACAGTCTCTGGACATCTCAAGCCAGGACCTGGGACTCTGGGTCTCATGGCCTCAGCCGTCTGCTTCTGGTGTGGGCCACCCTGGACAGGCCAGGCCAGCTTTGCACCGGGGCCAGCCCTCACCACATTCCCCAGAAATCTCGCTCTTCCAGCACGGTAGTGAGCAGAGCAGGGTGTCCCAAAGGCCCCTGGAGGGAGGAGAGGAGGGGTTTCCATCCCCACGACAGAAATGGCTTGGCGGGCCCTTTTCCATCACGGCCTCTGACCACTCCACCTTGGCTGTGAGGCTGCCAGGGCGCACCTGGCCCCATCCTCTCCTCCGTCTTCTCTCTCCTTTTTCTCCTCTCTACTCTTCTCCACAAACAAGACAAATCTCTCTATTTCTCATGGAAAACAAGCTCCTACAGGGCTAACATCTGCACCTCCAAACCCTGGGGTCCCCCTCCTACCCCAAGCCCTGATCACCAAATCCTTCAAACAAGGCAACTCTCCCCCTCTGAGGAATCCTGGTGCCAGATGTTAAAATCATAAACTTTTCTCCACCACATGAGGTAACATTTATGGGCCTGTTACTGGCCAAGCCAAATCCAAATATAATTACACGAGGACCCCACCCCTTGAGGGGTTCCATGTGTAACCAGCAGACCAGCCTGGGTGGGCCTGTGGGTCGGAAGATTCCACCAGGTAGCCCAAGCGGGTGCAGAGTGCAGCTGGAGGGCACTGACTCACAGAGCTCAGGTGGGAGCAGGAGCCCCAAACCCAGAGGTGGGGGCCAGTAAGAAGTGATAGGGAATGTGGCAAACCAGGGAGCCTGTGTTCCATCCAGAGGGGCTCAGCCGATTGCCACCATGTGGAGGAGATGGGGGCCCAGGTGCCAGGCGTCCAGTTCTTCCAGAGAGGTCAGAAGGCTAGATTGTTACATGAACTCTCTAAAGTCTTTAAGTGTTGGCAACTAAATAAGAAATTTTAAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTCTGGAAGGCCGAGGTGGGCGGATCACCTGAGGTCAGAAGTTCAAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAACAAATTAGCTGGGTGTGGTGGTGTGTGCCTGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCGCTTGAACGCGAGAGGCGGAGGTTGCAGTGAGCCCAGATCGCGCCACTGCACTCTAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAACAAAAAAAAAAAAAAAAAGAAATTTTAGG
TGGCCATGCAGGAGGAGGAAGGCTGGCCTGAGAAGGATGTGAGACCAAAATAAGAACAAGCACACCCCCACCCCCGTAGGGCCGAGGAATATTCCCGAGGGTCCTGAATGTCAACGAAGTGCGTTTAAAGCCTCCGTCAGCCTTCTGTCTTTGGCTTTTCCTGCCAGGCTTCTGTAACTTCTGTGTTTTTACCCTGTTTTATTTATTTTTTAAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCACGGTCTCGGCTCACTGCCACCTCTGCCTCCTGGGTTCAAGCAATTCTCCATCCCAAAATATATTTATCTTTTAAAGGAAGCTTTATGTCACTAACATAAATGGAAAATGGTGTCCCTCCCCTAAGTAGAATGTGCTCTAGAAGAAAATGTACTGCAAATGTTAAAACCATAGGCCAAAATTCTAGCTAGAGATTCACACTTGGTAGAGGCTCTGCTTCCCAGGCCTACAGCTGTTTGTTAGAAAGAGGCATGGAGAAGCACTAGGCAGGAGCTAAAAACACCATGGCACCAAGAAGAGACTCCGTCCTTGAGTATACAGGAGGAGGGAGGAGAGTTAAAAATGAAGTCACTCTCCCCACCATGGTGTTCTCAGCCAGTGGGAGCTGCCCAGCCCACACCTCTGTGAGGCAGGCAGGACCGGTCACTGCTCCCACTTTACAGATGAGGAAAACTGAGATTCGGAGGAACAACCAGCAGAGCCACGTTTCTCAGGGGTCTCCTAGTTCCCACCTTCTGGGAGCAGGTGAGGGGCCACCCTCAGTCCTCCACAGACCTGATTCCAAAGCCCATCAAGGCACTGGCGGCACAGTGGGACCCCCTTCTATAAACCGGGGTTGAGATGTGGTTCTGTGCCCAAGGCGCGGGCCCCTGAGGGCCTCCTGCCTCTGGAAATAGGCCCCAAGGCTGCACTGGGGGGATAAGCCAGGCTATTTTCATCACTTCCTTCCGCCCGCTCCCGCAGCGGCCACCTCAGCTGTATCCCATAGAGTTGCCACCCAGGCCTCAGCCAGGACCTTTCAGGCCAGACAGGAGCACCTGACCAAAGGCTTCACAGGTAAGTGGCCCTCCGTATTACCCAGCATGGCCTCCCACAGGGAGAGAGGAGGTCAGTTCCTGTCCCTTTAACAAGACAGGGTTGGGTGGGACATTCCCTCTGAGACACCATCTCCTTGGCTGAGTCAAGATGAGTGAGTTGATTTGACACTTATTCACTGGAAACCTGCTGTGGGTAGGGGGAGCTCTGCTGGTGGAGGGGAAACGCCTGTGGGGAAGAACCAAACAGAGGGCCACGGTTGCCGAGACCCGAGTGTGAGTCTGGCCTCTGACACCACACCGGTGGCCCTGGGCACATTGCTTTCCCTCTCTGGGCCTCAGTTTCCCCAAGTCAGTGTTAGCCCAGATGAGTGGTTTTCCAGATGGGGTCCCACTGAGTTCCCCTCCCTGCTCCAGCCAGTGTCCCTGTCCTGCTGTCTTCTGCATCTGGGAATCAGGTAACAGCTCACTTAGCTGGTGGGGGGTGCTGGGCGCAGCCTGCAGGGCCCTCCAAGGCTCTTTCCTAGTCTCTGGGGACTGTGGTCCTGGGCTGGGACTCATTTAGCAGCCATCTGCTCCTCTCATCCCCAAGCAGGGGATGGGGTCTCTGCTAAGGGCCAGGAAGTCCCTTCCCCTTCCCAAAAACAAACTTACCCAATCCACAGCCGCCCTCACCGCCCGGCCTTCTACGGTGTCCAGAGACAGTTAGCCAGGCCTGGGCTGGGCACACTCCACCTTCCCTAGTCACCAGCTGGTTTCCCAGAGGAGAAGGCTGAGACCCGAGAAGGGAGGTGAGTGCACCCCGTCCCATGTCAGGCTCCGCTACATCCCCAGTGCTTGCCGTCCCTGAGGATCGGTCCAGGCTGCCAGGCCCTCCCTCACAGCCCCTCTCTCTGCAGCCAGCCTGTCCCATGCCTGCCTGGGGAGCCCTGTTCCTGCTCTGGGCCACAGCAGAGGCCACCAAGGACTGCCCCAGCCCACGTACCTGCCGCGCCCTGGAAACCATGGGGCTGTGGGTGGACTGCAGGGGCCACGGACTCACGGCCCTGCCTGCCCTGCCGGCCCGCACCCGCCACCTTCTGCTGGCCAACAACAGCCTTCAGTCCGTGCCCCCGGGAGCCTTTGACCACCTGCCCCAGCTGCAGACCCTCGATGTGACGCAGAACCCCTGGCACTGTGACTGCAGCCTCACCTATCTGCGCCTCTGGCTGGAGGACCGCACGCCCGAGGCCCTGCTGCAGGTCCGCTGTGCCAGCCCCAGCCTCGCTGCCCATGGCCCGCTGGGCCGGCTGACAGGCTACCAGCTGGGCAGCTGTGGCTGGCAGCTGCAGGCGTCCTGGGTGCGCCCGGGGGTCTTGTGGGACGTGGCGCTGGTCGCCGTGGCCGCGCTGGGCCTGGCTCTTCTGGCTGGCCTGCTGTGTGCCACCACAGAGGCCCTGGATTGAGCCAGGCCCCCAGAACCCCTGGCTCCAGGCCAGGGGGCCAGTCCCTGAGGCAGGTCCCCAGACTCCACCAAGCCTGGTCAGCCCAAACCACCAGAAGCCCAGAATAAACTGGCAGCTCAGCTGTTTTATATAAGCTCAGAGATTTTTTTTTTTTCCCCTCTCAGCATTTGAGTCTGACTCCTTCTGAAAACCTGGCTCGATTTTGTTATAACCAGACATCAGTTGGGGCTTCCCTGTTTCTCAAGTTGTTAGTAAAATGGGCTGCCCACCTCCCCCACCCTTCACCCTTAACTGCACAGTCTCTGGACATCTCAAGCCAGGACCTGGGACTCTGGGTCTCATGGCCTCAGCCGTCTGCTTCTGGTGTGGGCCACCCTGGACAGGCCAGGCCAGCTTTGCACCGGGGCCAGCCCTCACCACATTCCCCAGAAATCTCGCTCTTCCAGCACGGTAGTGAGCAGAGCAGGGTGTCCCAAAGGCCCCTGGAGGGAGGAGAGGAGGGGTTTCCATCCCCACGACAGAAATGGCTTGGCGGGCCCTTTTCCATCACGGCCTCTGACCACTCCACCTTGGCTGTGAGGCTGCCAGGGCGCACCTGGCCCCATCCTCTCCTCCGTCTTCTCTCTCCTTTTTCTCCTCTCTACTCTTCTCCACAAACAAGACAAATCTCTCTATTTCTCATGGAAAACAAGCTCCTACAGGGCTAACATCTGCACCTCCAAACCCTGGGGTCCCCCTCCTACCCCAAGCCCTGATCACCAAATCCTTCAAACAAGGCAACTCTCCCCCTCTGAGGAATCCTGGTGCCAGATGTTAAAATCATAAACTTTTCTCCACCACATGAGGTAACATTTATGGGCCTGTTACTGGCCAAGCCAAATCCAAATATAATTACACGAGGACCCCACCCCTTGAGGGGTTCCATGTGTAACCAGCAGACCAGCCTGGGTGGGCCTGTGGGTCGGAAGATTCCACCAGGTAGCCCAAGCGGGTGCAGAGTGCAGCTGGAGGGCACTGACTCACAGAGCTCAGGTGGGAGCAGGAGCCCCAAACCCAGAGGTGGGGGCCAGTAAGAAGTGATAGGGAATGTGGCAAACCAGGGAGCCTGTGTTCCATCCAGAGGGGCTCAGCCGATTGCCACCATGTGGAGGAGATGGGGGCCCAGGTGCCAGGCGTCCAGTTCTTCCAGAGAGGTCAGAAGGCTAGATTGTTACATGAACTCTCTAAAGTCTTTAAGTGTTGGCAACTAAATAAGAAATTTTAAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTCTGGAAGGCCGAGGTGGGCGGATCACCTGAGGTCAGAAGTTCAAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAACAAATTAGCTGGGTGTGGTGGTGTGTGCCTGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCGCTTGAACGCGAGAGGCGGAGGTTGCAGTGAGCCCAGATCGCGCCACTGCACTCTAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAACAAAAAAAAAAAAAAAAAGAAATTTTAGG
Task1_train_7518
Assess the clinical impact of this variant on gene GP9 (glycoprotein IX platelet), found on Chromosome 3. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Bernard-Soulier syndrome type C
GAGACCAAAATAAGAACAAGCACACCCCCACCCCCGTAGGGCCGAGGAATATTCCCGAGGGTCCTGAATGTCAACGAAGTGCGTTTAAAGCCTCCGTCAGCCTTCTGTCTTTGGCTTTTCCTGCCAGGCTTCTGTAACTTCTGTGTTTTTACCCTGTTTTATTTATTTTTTAAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCACGGTCTCGGCTCACTGCCACCTCTGCCTCCTGGGTTCAAGCAATTCTCCATCCCAAAATATATTTATCTTTTAAAGGAAGCTTTATGTCACTAACATAAATGGAAAATGGTGTCCCTCCCCTAAGTAGAATGTGCTCTAGAAGAAAATGTACTGCAAATGTTAAAACCATAGGCCAAAATTCTAGCTAGAGATTCACACTTGGTAGAGGCTCTGCTTCCCAGGCCTACAGCTGTTTGTTAGAAAGAGGCATGGAGAAGCACTAGGCAGGAGCTAAAAACACCATGGCACCAAGAAGAGACTCCGTCCTTGAGTATACAGGAGGAGGGAGGAGAGTTAAAAATGAAGTCACTCTCCCCACCATGGTGTTCTCAGCCAGTGGGAGCTGCCCAGCCCACACCTCTGTGAGGCAGGCAGGACCGGTCACTGCTCCCACTTTACAGATGAGGAAAACTGAGATTCGGAGGAACAACCAGCAGAGCCACGTTTCTCAGGGGTCTCCTAGTTCCCACCTTCTGGGAGCAGGTGAGGGGCCACCCTCAGTCCTCCACAGACCTGATTCCAAAGCCCATCAAGGCACTGGCGGCACAGTGGGACCCCCTTCTATAAACCGGGGTTGAGATGTGGTTCTGTGCCCAAGGCGCGGGCCCCTGAGGGCCTCCTGCCTCTGGAAATAGGCCCCAAGGCTGCACTGGGGGGATAAGCCAGGCTATTTTCATCACTTCCTTCCGCCCGCTCCCGCAGCGGCCACCTCAGCTGTATCCCATAGAGTTGCCACCCAGGCCTCAGCCAGGACCTTTCAGGCCAGACAGGAGCACCTGACCAAAGGCTTCACAGGTAAGTGGCCCTCCGTATTACCCAGCATGGCCTCCCACAGGGAGAGAGGAGGTCAGTTCCTGTCCCTTTAACAAGACAGGGTTGGGTGGGACATTCCCTCTGAGACACCATCTCCTTGGCTGAGTCAAGATGAGTGAGTTGATTTGACACTTATTCACTGGAAACCTGCTGTGGGTAGGGGGAGCTCTGCTGGTGGAGGGGAAACGCCTGTGGGGAAGAACCAAACAGAGGGCCACGGTTGCCGAGACCCGAGTGTGAGTCTGGCCTCTGACACCACACCGGTGGCCCTGGGCACATTGCTTTCCCTCTCTGGGCCTCAGTTTCCCCAAGTCAGTGTTAGCCCAGATGAGTGGTTTTCCAGATGGGGTCCCACTGAGTTCCCCTCCCTGCTCCAGCCAGTGTCCCTGTCCTGCTGTCTTCTGCATCTGGGAATCAGGTAACAGCTCACTTAGCTGGTGGGGGGTGCTGGGCGCAGCCTGCAGGGCCCTCCAAGGCTCTTTCCTAGTCTCTGGGGACTGTGGTCCTGGGCTGGGACTCATTTAGCAGCCATCTGCTCCTCTCATCCCCAAGCAGGGGATGGGGTCTCTGCTAAGGGCCAGGAAGTCCCTTCCCCTTCCCAAAAACAAACTTACCCAATCCACAGCCGCCCTCACCGCCCGGCCTTCTACGGTGTCCAGAGACAGTTAGCCAGGCCTGGGCTGGGCACACTCCACCTTCCCTAGTCACCAGCTGGTTTCCCAGAGGAGAAGGCTGAGACCCGAGAAGGGAGGTGAGTGCACCCCGTCCCATGTCAGGCTCCGCTACATCCCCAGTGCTTGCCGTCCCTGAGGATCGGTCCAGGCTGCCAGGCCCTCCCTCACAGCCCCTCTCTCTGCAGCCAGCCTGTCCCATGCCTGCCTGGGGAGCCCTGTTCCTGCTCTGGGCCACAGCAGAGGCCACCAAGGACTGCCCCAGCCCATGTACCTGCCGCGCCCTGGAAACCATGGGGCTGTGGGTGGACTGCAGGGGCCACGGACTCACGGCCCTGCCTGCCCTGCCGGCCCGCACCCGCCACCTTCTGCTGGCCAACAACAGCCTTCAGTCCGTGCCCCCGGGAGCCTTTGACCACCTGCCCCAGCTGCAGACCCTCGATGTGACGCAGAACCCCTGGCACTGTGACTGCAGCCTCACCTATCTGCGCCTCTGGCTGGAGGACCGCACGCCCGAGGCCCTGCTGCAGGTCCGCTGTGCCAGCCCCAGCCTCGCTGCCCATGGCCCGCTGGGCCGGCTGACAGGCTACCAGCTGGGCAGCTGTGGCTGGCAGCTGCAGGCGTCCTGGGTGCGCCCGGGGGTCTTGTGGGACGTGGCGCTGGTCGCCGTGGCCGCGCTGGGCCTGGCTCTTCTGGCTGGCCTGCTGTGTGCCACCACAGAGGCCCTGGATTGAGCCAGGCCCCCAGAACCCCTGGCTCCAGGCCAGGGGGCCAGTCCCTGAGGCAGGTCCCCAGACTCCACCAAGCCTGGTCAGCCCAAACCACCAGAAGCCCAGAATAAACTGGCAGCTCAGCTGTTTTATATAAGCTCAGAGATTTTTTTTTTTTCCCCTCTCAGCATTTGAGTCTGACTCCTTCTGAAAACCTGGCTCGATTTTGTTATAACCAGACATCAGTTGGGGCTTCCCTGTTTCTCAAGTTGTTAGTAAAATGGGCTGCCCACCTCCCCCACCCTTCACCCTTAACTGCACAGTCTCTGGACATCTCAAGCCAGGACCTGGGACTCTGGGTCTCATGGCCTCAGCCGTCTGCTTCTGGTGTGGGCCACCCTGGACAGGCCAGGCCAGCTTTGCACCGGGGCCAGCCCTCACCACATTCCCCAGAAATCTCGCTCTTCCAGCACGGTAGTGAGCAGAGCAGGGTGTCCCAAAGGCCCCTGGAGGGAGGAGAGGAGGGGTTTCCATCCCCACGACAGAAATGGCTTGGCGGGCCCTTTTCCATCACGGCCTCTGACCACTCCACCTTGGCTGTGAGGCTGCCAGGGCGCACCTGGCCCCATCCTCTCCTCCGTCTTCTCTCTCCTTTTTCTCCTCTCTACTCTTCTCCACAAACAAGACAAATCTCTCTATTTCTCATGGAAAACAAGCTCCTACAGGGCTAACATCTGCACCTCCAAACCCTGGGGTCCCCCTCCTACCCCAAGCCCTGATCACCAAATCCTTCAAACAAGGCAACTCTCCCCCTCTGAGGAATCCTGGTGCCAGATGTTAAAATCATAAACTTTTCTCCACCACATGAGGTAACATTTATGGGCCTGTTACTGGCCAAGCCAAATCCAAATATAATTACACGAGGACCCCACCCCTTGAGGGGTTCCATGTGTAACCAGCAGACCAGCCTGGGTGGGCCTGTGGGTCGGAAGATTCCACCAGGTAGCCCAAGCGGGTGCAGAGTGCAGCTGGAGGGCACTGACTCACAGAGCTCAGGTGGGAGCAGGAGCCCCAAACCCAGAGGTGGGGGCCAGTAAGAAGTGATAGGGAATGTGGCAAACCAGGGAGCCTGTGTTCCATCCAGAGGGGCTCAGCCGATTGCCACCATGTGGAGGAGATGGGGGCCCAGGTGCCAGGCGTCCAGTTCTTCCAGAGAGGTCAGAAGGCTAGATTGTTACATGAACTCTCTAAAGTCTTTAAGTGTTGGCAACTAAATAAGAAATTTTAAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTCTGGAAGGCCGAGGTGGGCGGATCACCTGAGGTCAGAAGTTCAAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAACAAATTAGCTGGGTGTGGTGGTGTGTGCCTGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCGCTTGAACGCGAGAGGCGGAGGTTGCAGTGAGCCCAGATCGCGCCACTGCACTCTAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAACAAAAAAAAAAAAAAAAAGAAATTTTAGGAAATACATAGGCAGGACAAATAGAACATCAGCCAATTGGA
GAGACCAAAATAAGAACAAGCACACCCCCACCCCCGTAGGGCCGAGGAATATTCCCGAGGGTCCTGAATGTCAACGAAGTGCGTTTAAAGCCTCCGTCAGCCTTCTGTCTTTGGCTTTTCCTGCCAGGCTTCTGTAACTTCTGTGTTTTTACCCTGTTTTATTTATTTTTTAAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCACGGTCTCGGCTCACTGCCACCTCTGCCTCCTGGGTTCAAGCAATTCTCCATCCCAAAATATATTTATCTTTTAAAGGAAGCTTTATGTCACTAACATAAATGGAAAATGGTGTCCCTCCCCTAAGTAGAATGTGCTCTAGAAGAAAATGTACTGCAAATGTTAAAACCATAGGCCAAAATTCTAGCTAGAGATTCACACTTGGTAGAGGCTCTGCTTCCCAGGCCTACAGCTGTTTGTTAGAAAGAGGCATGGAGAAGCACTAGGCAGGAGCTAAAAACACCATGGCACCAAGAAGAGACTCCGTCCTTGAGTATACAGGAGGAGGGAGGAGAGTTAAAAATGAAGTCACTCTCCCCACCATGGTGTTCTCAGCCAGTGGGAGCTGCCCAGCCCACACCTCTGTGAGGCAGGCAGGACCGGTCACTGCTCCCACTTTACAGATGAGGAAAACTGAGATTCGGAGGAACAACCAGCAGAGCCACGTTTCTCAGGGGTCTCCTAGTTCCCACCTTCTGGGAGCAGGTGAGGGGCCACCCTCAGTCCTCCACAGACCTGATTCCAAAGCCCATCAAGGCACTGGCGGCACAGTGGGACCCCCTTCTATAAACCGGGGTTGAGATGTGGTTCTGTGCCCAAGGCGCGGGCCCCTGAGGGCCTCCTGCCTCTGGAAATAGGCCCCAAGGCTGCACTGGGGGGATAAGCCAGGCTATTTTCATCACTTCCTTCCGCCCGCTCCCGCAGCGGCCACCTCAGCTGTATCCCATAGAGTTGCCACCCAGGCCTCAGCCAGGACCTTTCAGGCCAGACAGGAGCACCTGACCAAAGGCTTCACAGGTAAGTGGCCCTCCGTATTACCCAGCATGGCCTCCCACAGGGAGAGAGGAGGTCAGTTCCTGTCCCTTTAACAAGACAGGGTTGGGTGGGACATTCCCTCTGAGACACCATCTCCTTGGCTGAGTCAAGATGAGTGAGTTGATTTGACACTTATTCACTGGAAACCTGCTGTGGGTAGGGGGAGCTCTGCTGGTGGAGGGGAAACGCCTGTGGGGAAGAACCAAACAGAGGGCCACGGTTGCCGAGACCCGAGTGTGAGTCTGGCCTCTGACACCACACCGGTGGCCCTGGGCACATTGCTTTCCCTCTCTGGGCCTCAGTTTCCCCAAGTCAGTGTTAGCCCAGATGAGTGGTTTTCCAGATGGGGTCCCACTGAGTTCCCCTCCCTGCTCCAGCCAGTGTCCCTGTCCTGCTGTCTTCTGCATCTGGGAATCAGGTAACAGCTCACTTAGCTGGTGGGGGGTGCTGGGCGCAGCCTGCAGGGCCCTCCAAGGCTCTTTCCTAGTCTCTGGGGACTGTGGTCCTGGGCTGGGACTCATTTAGCAGCCATCTGCTCCTCTCATCCCCAAGCAGGGGATGGGGTCTCTGCTAAGGGCCAGGAAGTCCCTTCCCCTTCCCAAAAACAAACTTACCCAATCCACAGCCGCCCTCACCGCCCGGCCTTCTACGGTGTCCAGAGACAGTTAGCCAGGCCTGGGCTGGGCACACTCCACCTTCCCTAGTCACCAGCTGGTTTCCCAGAGGAGAAGGCTGAGACCCGAGAAGGGAGGTGAGTGCACCCCGTCCCATGTCAGGCTCCGCTACATCCCCAGTGCTTGCCGTCCCTGAGGATCGGTCCAGGCTGCCAGGCCCTCCCTCACAGCCCCTCTCTCTGCAGCCAGCCTGTCCCATGCCTGCCTGGGGAGCCCTGTTCCTGCTCTGGGCCACAGCAGAGGCCACCAAGGACTGCCCCAGCCCATGTACCTGCCGCGCCCTGGAAACCATGGGGCTGTGGGTGGGCTGCAGGGGCCACGGACTCACGGCCCTGCCTGCCCTGCCGGCCCGCACCCGCCACCTTCTGCTGGCCAACAACAGCCTTCAGTCCGTGCCCCCGGGAGCCTTTGACCACCTGCCCCAGCTGCAGACCCTCGATGTGACGCAGAACCCCTGGCACTGTGACTGCAGCCTCACCTATCTGCGCCTCTGGCTGGAGGACCGCACGCCCGAGGCCCTGCTGCAGGTCCGCTGTGCCAGCCCCAGCCTCGCTGCCCATGGCCCGCTGGGCCGGCTGACAGGCTACCAGCTGGGCAGCTGTGGCTGGCAGCTGCAGGCGTCCTGGGTGCGCCCGGGGGTCTTGTGGGACGTGGCGCTGGTCGCCGTGGCCGCGCTGGGCCTGGCTCTTCTGGCTGGCCTGCTGTGTGCCACCACAGAGGCCCTGGATTGAGCCAGGCCCCCAGAACCCCTGGCTCCAGGCCAGGGGGCCAGTCCCTGAGGCAGGTCCCCAGACTCCACCAAGCCTGGTCAGCCCAAACCACCAGAAGCCCAGAATAAACTGGCAGCTCAGCTGTTTTATATAAGCTCAGAGATTTTTTTTTTTTCCCCTCTCAGCATTTGAGTCTGACTCCTTCTGAAAACCTGGCTCGATTTTGTTATAACCAGACATCAGTTGGGGCTTCCCTGTTTCTCAAGTTGTTAGTAAAATGGGCTGCCCACCTCCCCCACCCTTCACCCTTAACTGCACAGTCTCTGGACATCTCAAGCCAGGACCTGGGACTCTGGGTCTCATGGCCTCAGCCGTCTGCTTCTGGTGTGGGCCACCCTGGACAGGCCAGGCCAGCTTTGCACCGGGGCCAGCCCTCACCACATTCCCCAGAAATCTCGCTCTTCCAGCACGGTAGTGAGCAGAGCAGGGTGTCCCAAAGGCCCCTGGAGGGAGGAGAGGAGGGGTTTCCATCCCCACGACAGAAATGGCTTGGCGGGCCCTTTTCCATCACGGCCTCTGACCACTCCACCTTGGCTGTGAGGCTGCCAGGGCGCACCTGGCCCCATCCTCTCCTCCGTCTTCTCTCTCCTTTTTCTCCTCTCTACTCTTCTCCACAAACAAGACAAATCTCTCTATTTCTCATGGAAAACAAGCTCCTACAGGGCTAACATCTGCACCTCCAAACCCTGGGGTCCCCCTCCTACCCCAAGCCCTGATCACCAAATCCTTCAAACAAGGCAACTCTCCCCCTCTGAGGAATCCTGGTGCCAGATGTTAAAATCATAAACTTTTCTCCACCACATGAGGTAACATTTATGGGCCTGTTACTGGCCAAGCCAAATCCAAATATAATTACACGAGGACCCCACCCCTTGAGGGGTTCCATGTGTAACCAGCAGACCAGCCTGGGTGGGCCTGTGGGTCGGAAGATTCCACCAGGTAGCCCAAGCGGGTGCAGAGTGCAGCTGGAGGGCACTGACTCACAGAGCTCAGGTGGGAGCAGGAGCCCCAAACCCAGAGGTGGGGGCCAGTAAGAAGTGATAGGGAATGTGGCAAACCAGGGAGCCTGTGTTCCATCCAGAGGGGCTCAGCCGATTGCCACCATGTGGAGGAGATGGGGGCCCAGGTGCCAGGCGTCCAGTTCTTCCAGAGAGGTCAGAAGGCTAGATTGTTACATGAACTCTCTAAAGTCTTTAAGTGTTGGCAACTAAATAAGAAATTTTAAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTCTGGAAGGCCGAGGTGGGCGGATCACCTGAGGTCAGAAGTTCAAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAACAAATTAGCTGGGTGTGGTGGTGTGTGCCTGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCGCTTGAACGCGAGAGGCGGAGGTTGCAGTGAGCCCAGATCGCGCCACTGCACTCTAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAACAAAAAAAAAAAAAAAAAGAAATTTTAGGAAATACATAGGCAGGACAAATAGAACATCAGCCAATTGGA
Task1_train_7519
Assess the clinical impact of this variant on gene GP9 (glycoprotein IX platelet), found on Chromosome 3. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Bernard-Soulier syndrome type C
AGGGTCCTGAATGTCAACGAAGTGCGTTTAAAGCCTCCGTCAGCCTTCTGTCTTTGGCTTTTCCTGCCAGGCTTCTGTAACTTCTGTGTTTTTACCCTGTTTTATTTATTTTTTAAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCACGGTCTCGGCTCACTGCCACCTCTGCCTCCTGGGTTCAAGCAATTCTCCATCCCAAAATATATTTATCTTTTAAAGGAAGCTTTATGTCACTAACATAAATGGAAAATGGTGTCCCTCCCCTAAGTAGAATGTGCTCTAGAAGAAAATGTACTGCAAATGTTAAAACCATAGGCCAAAATTCTAGCTAGAGATTCACACTTGGTAGAGGCTCTGCTTCCCAGGCCTACAGCTGTTTGTTAGAAAGAGGCATGGAGAAGCACTAGGCAGGAGCTAAAAACACCATGGCACCAAGAAGAGACTCCGTCCTTGAGTATACAGGAGGAGGGAGGAGAGTTAAAAATGAAGTCACTCTCCCCACCATGGTGTTCTCAGCCAGTGGGAGCTGCCCAGCCCACACCTCTGTGAGGCAGGCAGGACCGGTCACTGCTCCCACTTTACAGATGAGGAAAACTGAGATTCGGAGGAACAACCAGCAGAGCCACGTTTCTCAGGGGTCTCCTAGTTCCCACCTTCTGGGAGCAGGTGAGGGGCCACCCTCAGTCCTCCACAGACCTGATTCCAAAGCCCATCAAGGCACTGGCGGCACAGTGGGACCCCCTTCTATAAACCGGGGTTGAGATGTGGTTCTGTGCCCAAGGCGCGGGCCCCTGAGGGCCTCCTGCCTCTGGAAATAGGCCCCAAGGCTGCACTGGGGGGATAAGCCAGGCTATTTTCATCACTTCCTTCCGCCCGCTCCCGCAGCGGCCACCTCAGCTGTATCCCATAGAGTTGCCACCCAGGCCTCAGCCAGGACCTTTCAGGCCAGACAGGAGCACCTGACCAAAGGCTTCACAGGTAAGTGGCCCTCCGTATTACCCAGCATGGCCTCCCACAGGGAGAGAGGAGGTCAGTTCCTGTCCCTTTAACAAGACAGGGTTGGGTGGGACATTCCCTCTGAGACACCATCTCCTTGGCTGAGTCAAGATGAGTGAGTTGATTTGACACTTATTCACTGGAAACCTGCTGTGGGTAGGGGGAGCTCTGCTGGTGGAGGGGAAACGCCTGTGGGGAAGAACCAAACAGAGGGCCACGGTTGCCGAGACCCGAGTGTGAGTCTGGCCTCTGACACCACACCGGTGGCCCTGGGCACATTGCTTTCCCTCTCTGGGCCTCAGTTTCCCCAAGTCAGTGTTAGCCCAGATGAGTGGTTTTCCAGATGGGGTCCCACTGAGTTCCCCTCCCTGCTCCAGCCAGTGTCCCTGTCCTGCTGTCTTCTGCATCTGGGAATCAGGTAACAGCTCACTTAGCTGGTGGGGGGTGCTGGGCGCAGCCTGCAGGGCCCTCCAAGGCTCTTTCCTAGTCTCTGGGGACTGTGGTCCTGGGCTGGGACTCATTTAGCAGCCATCTGCTCCTCTCATCCCCAAGCAGGGGATGGGGTCTCTGCTAAGGGCCAGGAAGTCCCTTCCCCTTCCCAAAAACAAACTTACCCAATCCACAGCCGCCCTCACCGCCCGGCCTTCTACGGTGTCCAGAGACAGTTAGCCAGGCCTGGGCTGGGCACACTCCACCTTCCCTAGTCACCAGCTGGTTTCCCAGAGGAGAAGGCTGAGACCCGAGAAGGGAGGTGAGTGCACCCCGTCCCATGTCAGGCTCCGCTACATCCCCAGTGCTTGCCGTCCCTGAGGATCGGTCCAGGCTGCCAGGCCCTCCCTCACAGCCCCTCTCTCTGCAGCCAGCCTGTCCCATGCCTGCCTGGGGAGCCCTGTTCCTGCTCTGGGCCACAGCAGAGGCCACCAAGGACTGCCCCAGCCCATGTACCTGCCGCGCCCTGGAAACCATGGGGCTGTGGGTGGACTGCAGGGGCCACGGACTCACGGCCCTGCCTGCCCTGCCGGCCCGCACCCGCCACCTTCTGCTGGCCAACAACAGCCTTCAGTCCGTGCCCCCGGGAGCCTTTGACCACCTGCCCCAGCTGCAGACCCTCGATGTGACGCAGAACCCCTGGCACTGTGACTGCAGCCTCACCTATCTGCGCCTCTGGCTGGAGGACCGCACGCCCGAGGCCCTGCTGCAGGTCCGCTGTGCCAGCCCCAGCCTCGCTGCCCATGGCCCGCTGGGCCGGCTGACAGGCTACCAGCTGGGCAGCTGTGGCTGGCAGCTGCAGGCGTCCTGGGTGCGCCCGGGGGTCTTGTGGGACGTGGCGCTGGTCGCCGTGGCCGCGCTGGGCCTGGCTCTTCTGGCTGGCCTGCTGTGTGCCACCACAGAGGCCCTGGATTGAGCCAGGCCCCCAGAACCCCTGGCTCCAGGCCAGGGGGCCAGTCCCTGAGGCAGGTCCCCAGACTCCACCAAGCCTGGTCAGCCCAAACCACCAGAAGCCCAGAATAAACTGGCAGCTCAGCTGTTTTATATAAGCTCAGAGATTTTTTTTTTTTCCCCTCTCAGCATTTGAGTCTGACTCCTTCTGAAAACCTGGCTCGATTTTGTTATAACCAGACATCAGTTGGGGCTTCCCTGTTTCTCAAGTTGTTAGTAAAATGGGCTGCCCACCTCCCCCACCCTTCACCCTTAACTGCACAGTCTCTGGACATCTCAAGCCAGGACCTGGGACTCTGGGTCTCATGGCCTCAGCCGTCTGCTTCTGGTGTGGGCCACCCTGGACAGGCCAGGCCAGCTTTGCACCGGGGCCAGCCCTCACCACATTCCCCAGAAATCTCGCTCTTCCAGCACGGTAGTGAGCAGAGCAGGGTGTCCCAAAGGCCCCTGGAGGGAGGAGAGGAGGGGTTTCCATCCCCACGACAGAAATGGCTTGGCGGGCCCTTTTCCATCACGGCCTCTGACCACTCCACCTTGGCTGTGAGGCTGCCAGGGCGCACCTGGCCCCATCCTCTCCTCCGTCTTCTCTCTCCTTTTTCTCCTCTCTACTCTTCTCCACAAACAAGACAAATCTCTCTATTTCTCATGGAAAACAAGCTCCTACAGGGCTAACATCTGCACCTCCAAACCCTGGGGTCCCCCTCCTACCCCAAGCCCTGATCACCAAATCCTTCAAACAAGGCAACTCTCCCCCTCTGAGGAATCCTGGTGCCAGATGTTAAAATCATAAACTTTTCTCCACCACATGAGGTAACATTTATGGGCCTGTTACTGGCCAAGCCAAATCCAAATATAATTACACGAGGACCCCACCCCTTGAGGGGTTCCATGTGTAACCAGCAGACCAGCCTGGGTGGGCCTGTGGGTCGGAAGATTCCACCAGGTAGCCCAAGCGGGTGCAGAGTGCAGCTGGAGGGCACTGACTCACAGAGCTCAGGTGGGAGCAGGAGCCCCAAACCCAGAGGTGGGGGCCAGTAAGAAGTGATAGGGAATGTGGCAAACCAGGGAGCCTGTGTTCCATCCAGAGGGGCTCAGCCGATTGCCACCATGTGGAGGAGATGGGGGCCCAGGTGCCAGGCGTCCAGTTCTTCCAGAGAGGTCAGAAGGCTAGATTGTTACATGAACTCTCTAAAGTCTTTAAGTGTTGGCAACTAAATAAGAAATTTTAAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTCTGGAAGGCCGAGGTGGGCGGATCACCTGAGGTCAGAAGTTCAAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAACAAATTAGCTGGGTGTGGTGGTGTGTGCCTGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCGCTTGAACGCGAGAGGCGGAGGTTGCAGTGAGCCCAGATCGCGCCACTGCACTCTAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAACAAAAAAAAAAAAAAAAAGAAATTTTAGGAAATACATAGGCAGGACAAATAGAACATCAGCCAATTGGATCAGGCTGAGCCTGCGATTTCTGCTGTGGCACGGCTGCCTAAGAACAATCGTAAAAG
AGGGTCCTGAATGTCAACGAAGTGCGTTTAAAGCCTCCGTCAGCCTTCTGTCTTTGGCTTTTCCTGCCAGGCTTCTGTAACTTCTGTGTTTTTACCCTGTTTTATTTATTTTTTAAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCACGGTCTCGGCTCACTGCCACCTCTGCCTCCTGGGTTCAAGCAATTCTCCATCCCAAAATATATTTATCTTTTAAAGGAAGCTTTATGTCACTAACATAAATGGAAAATGGTGTCCCTCCCCTAAGTAGAATGTGCTCTAGAAGAAAATGTACTGCAAATGTTAAAACCATAGGCCAAAATTCTAGCTAGAGATTCACACTTGGTAGAGGCTCTGCTTCCCAGGCCTACAGCTGTTTGTTAGAAAGAGGCATGGAGAAGCACTAGGCAGGAGCTAAAAACACCATGGCACCAAGAAGAGACTCCGTCCTTGAGTATACAGGAGGAGGGAGGAGAGTTAAAAATGAAGTCACTCTCCCCACCATGGTGTTCTCAGCCAGTGGGAGCTGCCCAGCCCACACCTCTGTGAGGCAGGCAGGACCGGTCACTGCTCCCACTTTACAGATGAGGAAAACTGAGATTCGGAGGAACAACCAGCAGAGCCACGTTTCTCAGGGGTCTCCTAGTTCCCACCTTCTGGGAGCAGGTGAGGGGCCACCCTCAGTCCTCCACAGACCTGATTCCAAAGCCCATCAAGGCACTGGCGGCACAGTGGGACCCCCTTCTATAAACCGGGGTTGAGATGTGGTTCTGTGCCCAAGGCGCGGGCCCCTGAGGGCCTCCTGCCTCTGGAAATAGGCCCCAAGGCTGCACTGGGGGGATAAGCCAGGCTATTTTCATCACTTCCTTCCGCCCGCTCCCGCAGCGGCCACCTCAGCTGTATCCCATAGAGTTGCCACCCAGGCCTCAGCCAGGACCTTTCAGGCCAGACAGGAGCACCTGACCAAAGGCTTCACAGGTAAGTGGCCCTCCGTATTACCCAGCATGGCCTCCCACAGGGAGAGAGGAGGTCAGTTCCTGTCCCTTTAACAAGACAGGGTTGGGTGGGACATTCCCTCTGAGACACCATCTCCTTGGCTGAGTCAAGATGAGTGAGTTGATTTGACACTTATTCACTGGAAACCTGCTGTGGGTAGGGGGAGCTCTGCTGGTGGAGGGGAAACGCCTGTGGGGAAGAACCAAACAGAGGGCCACGGTTGCCGAGACCCGAGTGTGAGTCTGGCCTCTGACACCACACCGGTGGCCCTGGGCACATTGCTTTCCCTCTCTGGGCCTCAGTTTCCCCAAGTCAGTGTTAGCCCAGATGAGTGGTTTTCCAGATGGGGTCCCACTGAGTTCCCCTCCCTGCTCCAGCCAGTGTCCCTGTCCTGCTGTCTTCTGCATCTGGGAATCAGGTAACAGCTCACTTAGCTGGTGGGGGGTGCTGGGCGCAGCCTGCAGGGCCCTCCAAGGCTCTTTCCTAGTCTCTGGGGACTGTGGTCCTGGGCTGGGACTCATTTAGCAGCCATCTGCTCCTCTCATCCCCAAGCAGGGGATGGGGTCTCTGCTAAGGGCCAGGAAGTCCCTTCCCCTTCCCAAAAACAAACTTACCCAATCCACAGCCGCCCTCACCGCCCGGCCTTCTACGGTGTCCAGAGACAGTTAGCCAGGCCTGGGCTGGGCACACTCCACCTTCCCTAGTCACCAGCTGGTTTCCCAGAGGAGAAGGCTGAGACCCGAGAAGGGAGGTGAGTGCACCCCGTCCCATGTCAGGCTCCGCTACATCCCCAGTGCTTGCCGTCCCTGAGGATCGGTCCAGGCTGCCAGGCCCTCCCTCACAGCCCCTCTCTCTGCAGCCAGCCTGTCCCATGCCTGCCTGGGGAGCCCTGTTCCTGCTCTGGGCCACAGCAGAGGCCACCAAGGACTGCCCCAGCCCATGTACCTGCCGCGCCCTGGAAACCATGGGGCTGTGGGTGGACTGCAGGGGCCACGGACTCACGGCCCTGCCTGCCCTGCCGGCCCGCACCCGCCACCCTCTGCTGGCCAACAACAGCCTTCAGTCCGTGCCCCCGGGAGCCTTTGACCACCTGCCCCAGCTGCAGACCCTCGATGTGACGCAGAACCCCTGGCACTGTGACTGCAGCCTCACCTATCTGCGCCTCTGGCTGGAGGACCGCACGCCCGAGGCCCTGCTGCAGGTCCGCTGTGCCAGCCCCAGCCTCGCTGCCCATGGCCCGCTGGGCCGGCTGACAGGCTACCAGCTGGGCAGCTGTGGCTGGCAGCTGCAGGCGTCCTGGGTGCGCCCGGGGGTCTTGTGGGACGTGGCGCTGGTCGCCGTGGCCGCGCTGGGCCTGGCTCTTCTGGCTGGCCTGCTGTGTGCCACCACAGAGGCCCTGGATTGAGCCAGGCCCCCAGAACCCCTGGCTCCAGGCCAGGGGGCCAGTCCCTGAGGCAGGTCCCCAGACTCCACCAAGCCTGGTCAGCCCAAACCACCAGAAGCCCAGAATAAACTGGCAGCTCAGCTGTTTTATATAAGCTCAGAGATTTTTTTTTTTTCCCCTCTCAGCATTTGAGTCTGACTCCTTCTGAAAACCTGGCTCGATTTTGTTATAACCAGACATCAGTTGGGGCTTCCCTGTTTCTCAAGTTGTTAGTAAAATGGGCTGCCCACCTCCCCCACCCTTCACCCTTAACTGCACAGTCTCTGGACATCTCAAGCCAGGACCTGGGACTCTGGGTCTCATGGCCTCAGCCGTCTGCTTCTGGTGTGGGCCACCCTGGACAGGCCAGGCCAGCTTTGCACCGGGGCCAGCCCTCACCACATTCCCCAGAAATCTCGCTCTTCCAGCACGGTAGTGAGCAGAGCAGGGTGTCCCAAAGGCCCCTGGAGGGAGGAGAGGAGGGGTTTCCATCCCCACGACAGAAATGGCTTGGCGGGCCCTTTTCCATCACGGCCTCTGACCACTCCACCTTGGCTGTGAGGCTGCCAGGGCGCACCTGGCCCCATCCTCTCCTCCGTCTTCTCTCTCCTTTTTCTCCTCTCTACTCTTCTCCACAAACAAGACAAATCTCTCTATTTCTCATGGAAAACAAGCTCCTACAGGGCTAACATCTGCACCTCCAAACCCTGGGGTCCCCCTCCTACCCCAAGCCCTGATCACCAAATCCTTCAAACAAGGCAACTCTCCCCCTCTGAGGAATCCTGGTGCCAGATGTTAAAATCATAAACTTTTCTCCACCACATGAGGTAACATTTATGGGCCTGTTACTGGCCAAGCCAAATCCAAATATAATTACACGAGGACCCCACCCCTTGAGGGGTTCCATGTGTAACCAGCAGACCAGCCTGGGTGGGCCTGTGGGTCGGAAGATTCCACCAGGTAGCCCAAGCGGGTGCAGAGTGCAGCTGGAGGGCACTGACTCACAGAGCTCAGGTGGGAGCAGGAGCCCCAAACCCAGAGGTGGGGGCCAGTAAGAAGTGATAGGGAATGTGGCAAACCAGGGAGCCTGTGTTCCATCCAGAGGGGCTCAGCCGATTGCCACCATGTGGAGGAGATGGGGGCCCAGGTGCCAGGCGTCCAGTTCTTCCAGAGAGGTCAGAAGGCTAGATTGTTACATGAACTCTCTAAAGTCTTTAAGTGTTGGCAACTAAATAAGAAATTTTAAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTCTGGAAGGCCGAGGTGGGCGGATCACCTGAGGTCAGAAGTTCAAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAACAAATTAGCTGGGTGTGGTGGTGTGTGCCTGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCGCTTGAACGCGAGAGGCGGAGGTTGCAGTGAGCCCAGATCGCGCCACTGCACTCTAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAACAAAAAAAAAAAAAAAAAGAAATTTTAGGAAATACATAGGCAGGACAAATAGAACATCAGCCAATTGGATCAGGCTGAGCCTGCGATTTCTGCTGTGGCACGGCTGCCTAAGAACAATCGTAAAAG
Task1_train_7520
This alteration in GP9 (glycoprotein IX platelet) on Chromosome 3 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Macrothrombocytopenia
TTCTGTCTTTGGCTTTTCCTGCCAGGCTTCTGTAACTTCTGTGTTTTTACCCTGTTTTATTTATTTTTTAAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCACGGTCTCGGCTCACTGCCACCTCTGCCTCCTGGGTTCAAGCAATTCTCCATCCCAAAATATATTTATCTTTTAAAGGAAGCTTTATGTCACTAACATAAATGGAAAATGGTGTCCCTCCCCTAAGTAGAATGTGCTCTAGAAGAAAATGTACTGCAAATGTTAAAACCATAGGCCAAAATTCTAGCTAGAGATTCACACTTGGTAGAGGCTCTGCTTCCCAGGCCTACAGCTGTTTGTTAGAAAGAGGCATGGAGAAGCACTAGGCAGGAGCTAAAAACACCATGGCACCAAGAAGAGACTCCGTCCTTGAGTATACAGGAGGAGGGAGGAGAGTTAAAAATGAAGTCACTCTCCCCACCATGGTGTTCTCAGCCAGTGGGAGCTGCCCAGCCCACACCTCTGTGAGGCAGGCAGGACCGGTCACTGCTCCCACTTTACAGATGAGGAAAACTGAGATTCGGAGGAACAACCAGCAGAGCCACGTTTCTCAGGGGTCTCCTAGTTCCCACCTTCTGGGAGCAGGTGAGGGGCCACCCTCAGTCCTCCACAGACCTGATTCCAAAGCCCATCAAGGCACTGGCGGCACAGTGGGACCCCCTTCTATAAACCGGGGTTGAGATGTGGTTCTGTGCCCAAGGCGCGGGCCCCTGAGGGCCTCCTGCCTCTGGAAATAGGCCCCAAGGCTGCACTGGGGGGATAAGCCAGGCTATTTTCATCACTTCCTTCCGCCCGCTCCCGCAGCGGCCACCTCAGCTGTATCCCATAGAGTTGCCACCCAGGCCTCAGCCAGGACCTTTCAGGCCAGACAGGAGCACCTGACCAAAGGCTTCACAGGTAAGTGGCCCTCCGTATTACCCAGCATGGCCTCCCACAGGGAGAGAGGAGGTCAGTTCCTGTCCCTTTAACAAGACAGGGTTGGGTGGGACATTCCCTCTGAGACACCATCTCCTTGGCTGAGTCAAGATGAGTGAGTTGATTTGACACTTATTCACTGGAAACCTGCTGTGGGTAGGGGGAGCTCTGCTGGTGGAGGGGAAACGCCTGTGGGGAAGAACCAAACAGAGGGCCACGGTTGCCGAGACCCGAGTGTGAGTCTGGCCTCTGACACCACACCGGTGGCCCTGGGCACATTGCTTTCCCTCTCTGGGCCTCAGTTTCCCCAAGTCAGTGTTAGCCCAGATGAGTGGTTTTCCAGATGGGGTCCCACTGAGTTCCCCTCCCTGCTCCAGCCAGTGTCCCTGTCCTGCTGTCTTCTGCATCTGGGAATCAGGTAACAGCTCACTTAGCTGGTGGGGGGTGCTGGGCGCAGCCTGCAGGGCCCTCCAAGGCTCTTTCCTAGTCTCTGGGGACTGTGGTCCTGGGCTGGGACTCATTTAGCAGCCATCTGCTCCTCTCATCCCCAAGCAGGGGATGGGGTCTCTGCTAAGGGCCAGGAAGTCCCTTCCCCTTCCCAAAAACAAACTTACCCAATCCACAGCCGCCCTCACCGCCCGGCCTTCTACGGTGTCCAGAGACAGTTAGCCAGGCCTGGGCTGGGCACACTCCACCTTCCCTAGTCACCAGCTGGTTTCCCAGAGGAGAAGGCTGAGACCCGAGAAGGGAGGTGAGTGCACCCCGTCCCATGTCAGGCTCCGCTACATCCCCAGTGCTTGCCGTCCCTGAGGATCGGTCCAGGCTGCCAGGCCCTCCCTCACAGCCCCTCTCTCTGCAGCCAGCCTGTCCCATGCCTGCCTGGGGAGCCCTGTTCCTGCTCTGGGCCACAGCAGAGGCCACCAAGGACTGCCCCAGCCCATGTACCTGCCGCGCCCTGGAAACCATGGGGCTGTGGGTGGACTGCAGGGGCCACGGACTCACGGCCCTGCCTGCCCTGCCGGCCCGCACCCGCCACCTTCTGCTGGCCAACAACAGCCTTCAGTCCGTGCCCCCGGGAGCCTTTGACCACCTGCCCCAGCTGCAGACCCTCGATGTGACGCAGAACCCCTGGCACTGTGACTGCAGCCTCACCTATCTGCGCCTCTGGCTGGAGGACCGCACGCCCGAGGCCCTGCTGCAGGTCCGCTGTGCCAGCCCCAGCCTCGCTGCCCATGGCCCGCTGGGCCGGCTGACAGGCTACCAGCTGGGCAGCTGTGGCTGGCAGCTGCAGGCGTCCTGGGTGCGCCCGGGGGTCTTGTGGGACGTGGCGCTGGTCGCCGTGGCCGCGCTGGGCCTGGCTCTTCTGGCTGGCCTGCTGTGTGCCACCACAGAGGCCCTGGATTGAGCCAGGCCCCCAGAACCCCTGGCTCCAGGCCAGGGGGCCAGTCCCTGAGGCAGGTCCCCAGACTCCACCAAGCCTGGTCAGCCCAAACCACCAGAAGCCCAGAATAAACTGGCAGCTCAGCTGTTTTATATAAGCTCAGAGATTTTTTTTTTTTCCCCTCTCAGCATTTGAGTCTGACTCCTTCTGAAAACCTGGCTCGATTTTGTTATAACCAGACATCAGTTGGGGCTTCCCTGTTTCTCAAGTTGTTAGTAAAATGGGCTGCCCACCTCCCCCACCCTTCACCCTTAACTGCACAGTCTCTGGACATCTCAAGCCAGGACCTGGGACTCTGGGTCTCATGGCCTCAGCCGTCTGCTTCTGGTGTGGGCCACCCTGGACAGGCCAGGCCAGCTTTGCACCGGGGCCAGCCCTCACCACATTCCCCAGAAATCTCGCTCTTCCAGCACGGTAGTGAGCAGAGCAGGGTGTCCCAAAGGCCCCTGGAGGGAGGAGAGGAGGGGTTTCCATCCCCACGACAGAAATGGCTTGGCGGGCCCTTTTCCATCACGGCCTCTGACCACTCCACCTTGGCTGTGAGGCTGCCAGGGCGCACCTGGCCCCATCCTCTCCTCCGTCTTCTCTCTCCTTTTTCTCCTCTCTACTCTTCTCCACAAACAAGACAAATCTCTCTATTTCTCATGGAAAACAAGCTCCTACAGGGCTAACATCTGCACCTCCAAACCCTGGGGTCCCCCTCCTACCCCAAGCCCTGATCACCAAATCCTTCAAACAAGGCAACTCTCCCCCTCTGAGGAATCCTGGTGCCAGATGTTAAAATCATAAACTTTTCTCCACCACATGAGGTAACATTTATGGGCCTGTTACTGGCCAAGCCAAATCCAAATATAATTACACGAGGACCCCACCCCTTGAGGGGTTCCATGTGTAACCAGCAGACCAGCCTGGGTGGGCCTGTGGGTCGGAAGATTCCACCAGGTAGCCCAAGCGGGTGCAGAGTGCAGCTGGAGGGCACTGACTCACAGAGCTCAGGTGGGAGCAGGAGCCCCAAACCCAGAGGTGGGGGCCAGTAAGAAGTGATAGGGAATGTGGCAAACCAGGGAGCCTGTGTTCCATCCAGAGGGGCTCAGCCGATTGCCACCATGTGGAGGAGATGGGGGCCCAGGTGCCAGGCGTCCAGTTCTTCCAGAGAGGTCAGAAGGCTAGATTGTTACATGAACTCTCTAAAGTCTTTAAGTGTTGGCAACTAAATAAGAAATTTTAAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTCTGGAAGGCCGAGGTGGGCGGATCACCTGAGGTCAGAAGTTCAAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAACAAATTAGCTGGGTGTGGTGGTGTGTGCCTGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCGCTTGAACGCGAGAGGCGGAGGTTGCAGTGAGCCCAGATCGCGCCACTGCACTCTAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAACAAAAAAAAAAAAAAAAAGAAATTTTAGGAAATACATAGGCAGGACAAATAGAACATCAGCCAATTGGATCAGGCTGAGCCTGCGATTTCTGCTGTGGCACGGCTGCCTAAGAACAATCGTAAAAGCTGGCATCTGCTCCTTGGGCACCAGGTGTGTCCAAGGCTTGCGTG
TTCTGTCTTTGGCTTTTCCTGCCAGGCTTCTGTAACTTCTGTGTTTTTACCCTGTTTTATTTATTTTTTAAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCACGGTCTCGGCTCACTGCCACCTCTGCCTCCTGGGTTCAAGCAATTCTCCATCCCAAAATATATTTATCTTTTAAAGGAAGCTTTATGTCACTAACATAAATGGAAAATGGTGTCCCTCCCCTAAGTAGAATGTGCTCTAGAAGAAAATGTACTGCAAATGTTAAAACCATAGGCCAAAATTCTAGCTAGAGATTCACACTTGGTAGAGGCTCTGCTTCCCAGGCCTACAGCTGTTTGTTAGAAAGAGGCATGGAGAAGCACTAGGCAGGAGCTAAAAACACCATGGCACCAAGAAGAGACTCCGTCCTTGAGTATACAGGAGGAGGGAGGAGAGTTAAAAATGAAGTCACTCTCCCCACCATGGTGTTCTCAGCCAGTGGGAGCTGCCCAGCCCACACCTCTGTGAGGCAGGCAGGACCGGTCACTGCTCCCACTTTACAGATGAGGAAAACTGAGATTCGGAGGAACAACCAGCAGAGCCACGTTTCTCAGGGGTCTCCTAGTTCCCACCTTCTGGGAGCAGGTGAGGGGCCACCCTCAGTCCTCCACAGACCTGATTCCAAAGCCCATCAAGGCACTGGCGGCACAGTGGGACCCCCTTCTATAAACCGGGGTTGAGATGTGGTTCTGTGCCCAAGGCGCGGGCCCCTGAGGGCCTCCTGCCTCTGGAAATAGGCCCCAAGGCTGCACTGGGGGGATAAGCCAGGCTATTTTCATCACTTCCTTCCGCCCGCTCCCGCAGCGGCCACCTCAGCTGTATCCCATAGAGTTGCCACCCAGGCCTCAGCCAGGACCTTTCAGGCCAGACAGGAGCACCTGACCAAAGGCTTCACAGGTAAGTGGCCCTCCGTATTACCCAGCATGGCCTCCCACAGGGAGAGAGGAGGTCAGTTCCTGTCCCTTTAACAAGACAGGGTTGGGTGGGACATTCCCTCTGAGACACCATCTCCTTGGCTGAGTCAAGATGAGTGAGTTGATTTGACACTTATTCACTGGAAACCTGCTGTGGGTAGGGGGAGCTCTGCTGGTGGAGGGGAAACGCCTGTGGGGAAGAACCAAACAGAGGGCCACGGTTGCCGAGACCCGAGTGTGAGTCTGGCCTCTGACACCACACCGGTGGCCCTGGGCACATTGCTTTCCCTCTCTGGGCCTCAGTTTCCCCAAGTCAGTGTTAGCCCAGATGAGTGGTTTTCCAGATGGGGTCCCACTGAGTTCCCCTCCCTGCTCCAGCCAGTGTCCCTGTCCTGCTGTCTTCTGCATCTGGGAATCAGGTAACAGCTCACTTAGCTGGTGGGGGGTGCTGGGCGCAGCCTGCAGGGCCCTCCAAGGCTCTTTCCTAGTCTCTGGGGACTGTGGTCCTGGGCTGGGACTCATTTAGCAGCCATCTGCTCCTCTCATCCCCAAGCAGGGGATGGGGTCTCTGCTAAGGGCCAGGAAGTCCCTTCCCCTTCCCAAAAACAAACTTACCCAATCCACAGCCGCCCTCACCGCCCGGCCTTCTACGGTGTCCAGAGACAGTTAGCCAGGCCTGGGCTGGGCACACTCCACCTTCCCTAGTCACCAGCTGGTTTCCCAGAGGAGAAGGCTGAGACCCGAGAAGGGAGGTGAGTGCACCCCGTCCCATGTCAGGCTCCGCTACATCCCCAGTGCTTGCCGTCCCTGAGGATCGGTCCAGGCTGCCAGGCCCTCCCTCACAGCCCCTCTCTCTGCAGCCAGCCTGTCCCATGCCTGCCTGGGGAGCCCTGTTCCTGCTCTGGGCCACAGCAGAGGCCACCAAGGACTGCCCCAGCCCATGTACCTGCCGCGCCCTGGAAACCATGGGGCTGTGGGTGGACTGCAGGGGCCACGGACTCACGGCCCTGCCTGCCCTGCCGGCCCGCACCCGCCACCTTCTGCTGGCCAACAACAGCCTTCAGTCCGTGCCCCCGGGAGCCTCTGACCACCTGCCCCAGCTGCAGACCCTCGATGTGACGCAGAACCCCTGGCACTGTGACTGCAGCCTCACCTATCTGCGCCTCTGGCTGGAGGACCGCACGCCCGAGGCCCTGCTGCAGGTCCGCTGTGCCAGCCCCAGCCTCGCTGCCCATGGCCCGCTGGGCCGGCTGACAGGCTACCAGCTGGGCAGCTGTGGCTGGCAGCTGCAGGCGTCCTGGGTGCGCCCGGGGGTCTTGTGGGACGTGGCGCTGGTCGCCGTGGCCGCGCTGGGCCTGGCTCTTCTGGCTGGCCTGCTGTGTGCCACCACAGAGGCCCTGGATTGAGCCAGGCCCCCAGAACCCCTGGCTCCAGGCCAGGGGGCCAGTCCCTGAGGCAGGTCCCCAGACTCCACCAAGCCTGGTCAGCCCAAACCACCAGAAGCCCAGAATAAACTGGCAGCTCAGCTGTTTTATATAAGCTCAGAGATTTTTTTTTTTTCCCCTCTCAGCATTTGAGTCTGACTCCTTCTGAAAACCTGGCTCGATTTTGTTATAACCAGACATCAGTTGGGGCTTCCCTGTTTCTCAAGTTGTTAGTAAAATGGGCTGCCCACCTCCCCCACCCTTCACCCTTAACTGCACAGTCTCTGGACATCTCAAGCCAGGACCTGGGACTCTGGGTCTCATGGCCTCAGCCGTCTGCTTCTGGTGTGGGCCACCCTGGACAGGCCAGGCCAGCTTTGCACCGGGGCCAGCCCTCACCACATTCCCCAGAAATCTCGCTCTTCCAGCACGGTAGTGAGCAGAGCAGGGTGTCCCAAAGGCCCCTGGAGGGAGGAGAGGAGGGGTTTCCATCCCCACGACAGAAATGGCTTGGCGGGCCCTTTTCCATCACGGCCTCTGACCACTCCACCTTGGCTGTGAGGCTGCCAGGGCGCACCTGGCCCCATCCTCTCCTCCGTCTTCTCTCTCCTTTTTCTCCTCTCTACTCTTCTCCACAAACAAGACAAATCTCTCTATTTCTCATGGAAAACAAGCTCCTACAGGGCTAACATCTGCACCTCCAAACCCTGGGGTCCCCCTCCTACCCCAAGCCCTGATCACCAAATCCTTCAAACAAGGCAACTCTCCCCCTCTGAGGAATCCTGGTGCCAGATGTTAAAATCATAAACTTTTCTCCACCACATGAGGTAACATTTATGGGCCTGTTACTGGCCAAGCCAAATCCAAATATAATTACACGAGGACCCCACCCCTTGAGGGGTTCCATGTGTAACCAGCAGACCAGCCTGGGTGGGCCTGTGGGTCGGAAGATTCCACCAGGTAGCCCAAGCGGGTGCAGAGTGCAGCTGGAGGGCACTGACTCACAGAGCTCAGGTGGGAGCAGGAGCCCCAAACCCAGAGGTGGGGGCCAGTAAGAAGTGATAGGGAATGTGGCAAACCAGGGAGCCTGTGTTCCATCCAGAGGGGCTCAGCCGATTGCCACCATGTGGAGGAGATGGGGGCCCAGGTGCCAGGCGTCCAGTTCTTCCAGAGAGGTCAGAAGGCTAGATTGTTACATGAACTCTCTAAAGTCTTTAAGTGTTGGCAACTAAATAAGAAATTTTAAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTCTGGAAGGCCGAGGTGGGCGGATCACCTGAGGTCAGAAGTTCAAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAACAAATTAGCTGGGTGTGGTGGTGTGTGCCTGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCGCTTGAACGCGAGAGGCGGAGGTTGCAGTGAGCCCAGATCGCGCCACTGCACTCTAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAACAAAAAAAAAAAAAAAAAGAAATTTTAGGAAATACATAGGCAGGACAAATAGAACATCAGCCAATTGGATCAGGCTGAGCCTGCGATTTCTGCTGTGGCACGGCTGCCTAAGAACAATCGTAAAAGCTGGCATCTGCTCCTTGGGCACCAGGTGTGTCCAAGGCTTGCGTG
Task1_train_7521
A variant found in Chromosome 3 affects GP9 (glycoprotein IX platelet). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Bernard Soulier syndrome
TTCTGTCTTTGGCTTTTCCTGCCAGGCTTCTGTAACTTCTGTGTTTTTACCCTGTTTTATTTATTTTTTAAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCACGGTCTCGGCTCACTGCCACCTCTGCCTCCTGGGTTCAAGCAATTCTCCATCCCAAAATATATTTATCTTTTAAAGGAAGCTTTATGTCACTAACATAAATGGAAAATGGTGTCCCTCCCCTAAGTAGAATGTGCTCTAGAAGAAAATGTACTGCAAATGTTAAAACCATAGGCCAAAATTCTAGCTAGAGATTCACACTTGGTAGAGGCTCTGCTTCCCAGGCCTACAGCTGTTTGTTAGAAAGAGGCATGGAGAAGCACTAGGCAGGAGCTAAAAACACCATGGCACCAAGAAGAGACTCCGTCCTTGAGTATACAGGAGGAGGGAGGAGAGTTAAAAATGAAGTCACTCTCCCCACCATGGTGTTCTCAGCCAGTGGGAGCTGCCCAGCCCACACCTCTGTGAGGCAGGCAGGACCGGTCACTGCTCCCACTTTACAGATGAGGAAAACTGAGATTCGGAGGAACAACCAGCAGAGCCACGTTTCTCAGGGGTCTCCTAGTTCCCACCTTCTGGGAGCAGGTGAGGGGCCACCCTCAGTCCTCCACAGACCTGATTCCAAAGCCCATCAAGGCACTGGCGGCACAGTGGGACCCCCTTCTATAAACCGGGGTTGAGATGTGGTTCTGTGCCCAAGGCGCGGGCCCCTGAGGGCCTCCTGCCTCTGGAAATAGGCCCCAAGGCTGCACTGGGGGGATAAGCCAGGCTATTTTCATCACTTCCTTCCGCCCGCTCCCGCAGCGGCCACCTCAGCTGTATCCCATAGAGTTGCCACCCAGGCCTCAGCCAGGACCTTTCAGGCCAGACAGGAGCACCTGACCAAAGGCTTCACAGGTAAGTGGCCCTCCGTATTACCCAGCATGGCCTCCCACAGGGAGAGAGGAGGTCAGTTCCTGTCCCTTTAACAAGACAGGGTTGGGTGGGACATTCCCTCTGAGACACCATCTCCTTGGCTGAGTCAAGATGAGTGAGTTGATTTGACACTTATTCACTGGAAACCTGCTGTGGGTAGGGGGAGCTCTGCTGGTGGAGGGGAAACGCCTGTGGGGAAGAACCAAACAGAGGGCCACGGTTGCCGAGACCCGAGTGTGAGTCTGGCCTCTGACACCACACCGGTGGCCCTGGGCACATTGCTTTCCCTCTCTGGGCCTCAGTTTCCCCAAGTCAGTGTTAGCCCAGATGAGTGGTTTTCCAGATGGGGTCCCACTGAGTTCCCCTCCCTGCTCCAGCCAGTGTCCCTGTCCTGCTGTCTTCTGCATCTGGGAATCAGGTAACAGCTCACTTAGCTGGTGGGGGGTGCTGGGCGCAGCCTGCAGGGCCCTCCAAGGCTCTTTCCTAGTCTCTGGGGACTGTGGTCCTGGGCTGGGACTCATTTAGCAGCCATCTGCTCCTCTCATCCCCAAGCAGGGGATGGGGTCTCTGCTAAGGGCCAGGAAGTCCCTTCCCCTTCCCAAAAACAAACTTACCCAATCCACAGCCGCCCTCACCGCCCGGCCTTCTACGGTGTCCAGAGACAGTTAGCCAGGCCTGGGCTGGGCACACTCCACCTTCCCTAGTCACCAGCTGGTTTCCCAGAGGAGAAGGCTGAGACCCGAGAAGGGAGGTGAGTGCACCCCGTCCCATGTCAGGCTCCGCTACATCCCCAGTGCTTGCCGTCCCTGAGGATCGGTCCAGGCTGCCAGGCCCTCCCTCACAGCCCCTCTCTCTGCAGCCAGCCTGTCCCATGCCTGCCTGGGGAGCCCTGTTCCTGCTCTGGGCCACAGCAGAGGCCACCAAGGACTGCCCCAGCCCATGTACCTGCCGCGCCCTGGAAACCATGGGGCTGTGGGTGGACTGCAGGGGCCACGGACTCACGGCCCTGCCTGCCCTGCCGGCCCGCACCCGCCACCTTCTGCTGGCCAACAACAGCCTTCAGTCCGTGCCCCCGGGAGCCTTTGACCACCTGCCCCAGCTGCAGACCCTCGATGTGACGCAGAACCCCTGGCACTGTGACTGCAGCCTCACCTATCTGCGCCTCTGGCTGGAGGACCGCACGCCCGAGGCCCTGCTGCAGGTCCGCTGTGCCAGCCCCAGCCTCGCTGCCCATGGCCCGCTGGGCCGGCTGACAGGCTACCAGCTGGGCAGCTGTGGCTGGCAGCTGCAGGCGTCCTGGGTGCGCCCGGGGGTCTTGTGGGACGTGGCGCTGGTCGCCGTGGCCGCGCTGGGCCTGGCTCTTCTGGCTGGCCTGCTGTGTGCCACCACAGAGGCCCTGGATTGAGCCAGGCCCCCAGAACCCCTGGCTCCAGGCCAGGGGGCCAGTCCCTGAGGCAGGTCCCCAGACTCCACCAAGCCTGGTCAGCCCAAACCACCAGAAGCCCAGAATAAACTGGCAGCTCAGCTGTTTTATATAAGCTCAGAGATTTTTTTTTTTTCCCCTCTCAGCATTTGAGTCTGACTCCTTCTGAAAACCTGGCTCGATTTTGTTATAACCAGACATCAGTTGGGGCTTCCCTGTTTCTCAAGTTGTTAGTAAAATGGGCTGCCCACCTCCCCCACCCTTCACCCTTAACTGCACAGTCTCTGGACATCTCAAGCCAGGACCTGGGACTCTGGGTCTCATGGCCTCAGCCGTCTGCTTCTGGTGTGGGCCACCCTGGACAGGCCAGGCCAGCTTTGCACCGGGGCCAGCCCTCACCACATTCCCCAGAAATCTCGCTCTTCCAGCACGGTAGTGAGCAGAGCAGGGTGTCCCAAAGGCCCCTGGAGGGAGGAGAGGAGGGGTTTCCATCCCCACGACAGAAATGGCTTGGCGGGCCCTTTTCCATCACGGCCTCTGACCACTCCACCTTGGCTGTGAGGCTGCCAGGGCGCACCTGGCCCCATCCTCTCCTCCGTCTTCTCTCTCCTTTTTCTCCTCTCTACTCTTCTCCACAAACAAGACAAATCTCTCTATTTCTCATGGAAAACAAGCTCCTACAGGGCTAACATCTGCACCTCCAAACCCTGGGGTCCCCCTCCTACCCCAAGCCCTGATCACCAAATCCTTCAAACAAGGCAACTCTCCCCCTCTGAGGAATCCTGGTGCCAGATGTTAAAATCATAAACTTTTCTCCACCACATGAGGTAACATTTATGGGCCTGTTACTGGCCAAGCCAAATCCAAATATAATTACACGAGGACCCCACCCCTTGAGGGGTTCCATGTGTAACCAGCAGACCAGCCTGGGTGGGCCTGTGGGTCGGAAGATTCCACCAGGTAGCCCAAGCGGGTGCAGAGTGCAGCTGGAGGGCACTGACTCACAGAGCTCAGGTGGGAGCAGGAGCCCCAAACCCAGAGGTGGGGGCCAGTAAGAAGTGATAGGGAATGTGGCAAACCAGGGAGCCTGTGTTCCATCCAGAGGGGCTCAGCCGATTGCCACCATGTGGAGGAGATGGGGGCCCAGGTGCCAGGCGTCCAGTTCTTCCAGAGAGGTCAGAAGGCTAGATTGTTACATGAACTCTCTAAAGTCTTTAAGTGTTGGCAACTAAATAAGAAATTTTAAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTCTGGAAGGCCGAGGTGGGCGGATCACCTGAGGTCAGAAGTTCAAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAACAAATTAGCTGGGTGTGGTGGTGTGTGCCTGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCGCTTGAACGCGAGAGGCGGAGGTTGCAGTGAGCCCAGATCGCGCCACTGCACTCTAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAACAAAAAAAAAAAAAAAAAGAAATTTTAGGAAATACATAGGCAGGACAAATAGAACATCAGCCAATTGGATCAGGCTGAGCCTGCGATTTCTGCTGTGGCACGGCTGCCTAAGAACAATCGTAAAAGCTGGCATCTGCTCCTTGGGCACCAGGTGTGTCCAAGGCTTGCGTG
TTCTGTCTTTGGCTTTTCCTGCCAGGCTTCTGTAACTTCTGTGTTTTTACCCTGTTTTATTTATTTTTTAAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCACGGTCTCGGCTCACTGCCACCTCTGCCTCCTGGGTTCAAGCAATTCTCCATCCCAAAATATATTTATCTTTTAAAGGAAGCTTTATGTCACTAACATAAATGGAAAATGGTGTCCCTCCCCTAAGTAGAATGTGCTCTAGAAGAAAATGTACTGCAAATGTTAAAACCATAGGCCAAAATTCTAGCTAGAGATTCACACTTGGTAGAGGCTCTGCTTCCCAGGCCTACAGCTGTTTGTTAGAAAGAGGCATGGAGAAGCACTAGGCAGGAGCTAAAAACACCATGGCACCAAGAAGAGACTCCGTCCTTGAGTATACAGGAGGAGGGAGGAGAGTTAAAAATGAAGTCACTCTCCCCACCATGGTGTTCTCAGCCAGTGGGAGCTGCCCAGCCCACACCTCTGTGAGGCAGGCAGGACCGGTCACTGCTCCCACTTTACAGATGAGGAAAACTGAGATTCGGAGGAACAACCAGCAGAGCCACGTTTCTCAGGGGTCTCCTAGTTCCCACCTTCTGGGAGCAGGTGAGGGGCCACCCTCAGTCCTCCACAGACCTGATTCCAAAGCCCATCAAGGCACTGGCGGCACAGTGGGACCCCCTTCTATAAACCGGGGTTGAGATGTGGTTCTGTGCCCAAGGCGCGGGCCCCTGAGGGCCTCCTGCCTCTGGAAATAGGCCCCAAGGCTGCACTGGGGGGATAAGCCAGGCTATTTTCATCACTTCCTTCCGCCCGCTCCCGCAGCGGCCACCTCAGCTGTATCCCATAGAGTTGCCACCCAGGCCTCAGCCAGGACCTTTCAGGCCAGACAGGAGCACCTGACCAAAGGCTTCACAGGTAAGTGGCCCTCCGTATTACCCAGCATGGCCTCCCACAGGGAGAGAGGAGGTCAGTTCCTGTCCCTTTAACAAGACAGGGTTGGGTGGGACATTCCCTCTGAGACACCATCTCCTTGGCTGAGTCAAGATGAGTGAGTTGATTTGACACTTATTCACTGGAAACCTGCTGTGGGTAGGGGGAGCTCTGCTGGTGGAGGGGAAACGCCTGTGGGGAAGAACCAAACAGAGGGCCACGGTTGCCGAGACCCGAGTGTGAGTCTGGCCTCTGACACCACACCGGTGGCCCTGGGCACATTGCTTTCCCTCTCTGGGCCTCAGTTTCCCCAAGTCAGTGTTAGCCCAGATGAGTGGTTTTCCAGATGGGGTCCCACTGAGTTCCCCTCCCTGCTCCAGCCAGTGTCCCTGTCCTGCTGTCTTCTGCATCTGGGAATCAGGTAACAGCTCACTTAGCTGGTGGGGGGTGCTGGGCGCAGCCTGCAGGGCCCTCCAAGGCTCTTTCCTAGTCTCTGGGGACTGTGGTCCTGGGCTGGGACTCATTTAGCAGCCATCTGCTCCTCTCATCCCCAAGCAGGGGATGGGGTCTCTGCTAAGGGCCAGGAAGTCCCTTCCCCTTCCCAAAAACAAACTTACCCAATCCACAGCCGCCCTCACCGCCCGGCCTTCTACGGTGTCCAGAGACAGTTAGCCAGGCCTGGGCTGGGCACACTCCACCTTCCCTAGTCACCAGCTGGTTTCCCAGAGGAGAAGGCTGAGACCCGAGAAGGGAGGTGAGTGCACCCCGTCCCATGTCAGGCTCCGCTACATCCCCAGTGCTTGCCGTCCCTGAGGATCGGTCCAGGCTGCCAGGCCCTCCCTCACAGCCCCTCTCTCTGCAGCCAGCCTGTCCCATGCCTGCCTGGGGAGCCCTGTTCCTGCTCTGGGCCACAGCAGAGGCCACCAAGGACTGCCCCAGCCCATGTACCTGCCGCGCCCTGGAAACCATGGGGCTGTGGGTGGACTGCAGGGGCCACGGACTCACGGCCCTGCCTGCCCTGCCGGCCCGCACCCGCCACCTTCTGCTGGCCAACAACAGCCTTCAGTCCGTGCCCCCGGGAGCCTCTGACCACCTGCCCCAGCTGCAGACCCTCGATGTGACGCAGAACCCCTGGCACTGTGACTGCAGCCTCACCTATCTGCGCCTCTGGCTGGAGGACCGCACGCCCGAGGCCCTGCTGCAGGTCCGCTGTGCCAGCCCCAGCCTCGCTGCCCATGGCCCGCTGGGCCGGCTGACAGGCTACCAGCTGGGCAGCTGTGGCTGGCAGCTGCAGGCGTCCTGGGTGCGCCCGGGGGTCTTGTGGGACGTGGCGCTGGTCGCCGTGGCCGCGCTGGGCCTGGCTCTTCTGGCTGGCCTGCTGTGTGCCACCACAGAGGCCCTGGATTGAGCCAGGCCCCCAGAACCCCTGGCTCCAGGCCAGGGGGCCAGTCCCTGAGGCAGGTCCCCAGACTCCACCAAGCCTGGTCAGCCCAAACCACCAGAAGCCCAGAATAAACTGGCAGCTCAGCTGTTTTATATAAGCTCAGAGATTTTTTTTTTTTCCCCTCTCAGCATTTGAGTCTGACTCCTTCTGAAAACCTGGCTCGATTTTGTTATAACCAGACATCAGTTGGGGCTTCCCTGTTTCTCAAGTTGTTAGTAAAATGGGCTGCCCACCTCCCCCACCCTTCACCCTTAACTGCACAGTCTCTGGACATCTCAAGCCAGGACCTGGGACTCTGGGTCTCATGGCCTCAGCCGTCTGCTTCTGGTGTGGGCCACCCTGGACAGGCCAGGCCAGCTTTGCACCGGGGCCAGCCCTCACCACATTCCCCAGAAATCTCGCTCTTCCAGCACGGTAGTGAGCAGAGCAGGGTGTCCCAAAGGCCCCTGGAGGGAGGAGAGGAGGGGTTTCCATCCCCACGACAGAAATGGCTTGGCGGGCCCTTTTCCATCACGGCCTCTGACCACTCCACCTTGGCTGTGAGGCTGCCAGGGCGCACCTGGCCCCATCCTCTCCTCCGTCTTCTCTCTCCTTTTTCTCCTCTCTACTCTTCTCCACAAACAAGACAAATCTCTCTATTTCTCATGGAAAACAAGCTCCTACAGGGCTAACATCTGCACCTCCAAACCCTGGGGTCCCCCTCCTACCCCAAGCCCTGATCACCAAATCCTTCAAACAAGGCAACTCTCCCCCTCTGAGGAATCCTGGTGCCAGATGTTAAAATCATAAACTTTTCTCCACCACATGAGGTAACATTTATGGGCCTGTTACTGGCCAAGCCAAATCCAAATATAATTACACGAGGACCCCACCCCTTGAGGGGTTCCATGTGTAACCAGCAGACCAGCCTGGGTGGGCCTGTGGGTCGGAAGATTCCACCAGGTAGCCCAAGCGGGTGCAGAGTGCAGCTGGAGGGCACTGACTCACAGAGCTCAGGTGGGAGCAGGAGCCCCAAACCCAGAGGTGGGGGCCAGTAAGAAGTGATAGGGAATGTGGCAAACCAGGGAGCCTGTGTTCCATCCAGAGGGGCTCAGCCGATTGCCACCATGTGGAGGAGATGGGGGCCCAGGTGCCAGGCGTCCAGTTCTTCCAGAGAGGTCAGAAGGCTAGATTGTTACATGAACTCTCTAAAGTCTTTAAGTGTTGGCAACTAAATAAGAAATTTTAAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTCTGGAAGGCCGAGGTGGGCGGATCACCTGAGGTCAGAAGTTCAAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAACAAATTAGCTGGGTGTGGTGGTGTGTGCCTGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCGCTTGAACGCGAGAGGCGGAGGTTGCAGTGAGCCCAGATCGCGCCACTGCACTCTAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAACAAAAAAAAAAAAAAAAAGAAATTTTAGGAAATACATAGGCAGGACAAATAGAACATCAGCCAATTGGATCAGGCTGAGCCTGCGATTTCTGCTGTGGCACGGCTGCCTAAGAACAATCGTAAAAGCTGGCATCTGCTCCTTGGGCACCAGGTGTGTCCAAGGCTTGCGTG
Task1_train_7522
A variant affecting Chromosome 3, within the gene IFT122, LOC129937552 (intraflagellar transport 122| ATAC-STARR-seq lymphoblastoid active region 20514), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Cranioectodermal dysplasia 1
GCTTAAATAAATCAGTGAGTTACACTGTCTTCTCTGCAAATAAATGAGGTAAAAGTTTTACATAATGTAAAATTTCTGGGAGAGAGTGTGTATCACTTTCATCAGATGTAATCCTCCAGAAGGTAAATAATTTGATACAGAATTTTTGAATCTTCTTCATTCTTGATCCTCATGGTAACCTTGTAGGTACAATAAGGTTTACTCTCAATTTATTGATAAAATTGAGTGACAGGTTAAATTACTTGCAGAACAGACACGAGAACCCAAGTCTACCAAATCTTGGTCTAATACTTCTCCCCCATACTGTTATTGAAAAAAGCTGGCAAGGCAAGGTGGCTCATTCCTGTAATGCTAGCACTTTGGGAGGAGGAAGTGGGAAGATCACCTGATCCCAAGAGTTTGAGACCAGCCTGGAGAGCACAGTGAGATCCTCGTCTTTGCAAAAAATGAAAAAAAAAACCCAAAAAAACAAAAAAAAACAAGCAACCGGGCGTGGTGGAGCATACCTGTGGTCCCAGCTACTAAGGAGGCCGGGGTAGGAGGACTGCTTAAGTCCGGCAGGTCAAGGCTTCAGGGAGCTATGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACCTCATCTCAAAAAAAAACCCACTAAACTAAAACTTCATTAAAGTTCCAATGTGTCTTCTATGATGAAAACATACTTTTAAAATTAAAAAAAAAATTTCAGTAAAGTGTATCCTAATCACTAAACCACAGATTGTAAAAGGTGGATGGGTCTAGAGAGATCATTTAACCCAAGTTCTTTTCTACAAATAGGGAAACTGCAAGAACTAGAATTAGAATCAAGGTTTTCTGATGTAATTTGGGGTAAAATAATTTTGAGGAGCTGGATGGATCTTATGAAATGATATTGTTTACAATTTTAGAGATAAAAATACTGAAGCCTGGTGGAATCAGCACAAACTCTTAAGAGACTGGGGCTCAAATTCCAGCTCTACCAGCTGTAAGTTTAGCAGCAAGTTACTTAACATCTCAAAGTCTCGGTAAAAGACTCTGTAAAAAGAAGGTGATGCCTCTTTCAAAGTAGTTCTTAGTATTAAATTTTGAAAAAAGTAGGTAAATCTTAACCTCCTATCACACACGTAGTCTAATGACTTCCTAGGATCCTCCAACCCCAAGGGGACCTCTTTCACAAAACCTCCCGGCTCCCCCCCAGTCTCCCTAGTCATCTTAGATGAGGAAGTCGAGCGCACCCCAGGGCTGATCGCACAGGAAGAGCACCTGGGCTCCAGACCCTAGTAACTAAACCCGTGGGCTTCGAGGTTTCTGCCGACCCTCTGTCAAAGGTTAGAAAGGCCCACACACTGTCCACTCTCCCGATACCATTTTACAGGTGGTGAAACTGAGGCCCAAAAGGGGACAGTAACTTACCGGAGGTCATTCGGCGGGTCTGGGACTAGGCGCTCACTAGAGGTGACGGTGGGGGCAGCTCCGCGGTCCCCCAGACTCAGACTCTCCAGCCCAGTCGTGCCCATCGAGCAGGGTCCGGCTGCAGCAACGAGCCCAGCGCCGCAACGCCCAGGGTGTGGGGCGGAGTAAGATGTGAAACCTCTTCAGCTCACGGCACCGGGCTGCAACCGAGGTCTGAATGTTGCGAAAGCGCCCCAGACGCCGCCGCTGCTTTCCGGCCGCCCCCTCGGCTACAGCCGCCATTTCCACGCTCCACCAATCAAATCCATTCTCGAGGAAGACGCACCGCCCCCACACGCCCCGACCAATCGCTCGCGCTCTGGTTGCGCTGGCGCCTTAGGGGCTCCAGTGCCACCATTGCTTTTGCTGCTTTTCTGGCTTTCCCTTTCGGACATGCGCGCTCGGAGCAAGGCGCCCTCGCACTCAGCTTACCGCGCATGTACGTTGCCAGGGGTAACGCAGGTAGCCAAAGTGGCTTGTGGAGTGGCGACCGTTAGTGAGGCGGTTGCTGAGACAGACGCTGAGGCGGGTAGGAGGAGCCCGAGCCGTAAGGGAAGCCGTGATGAGGGCCGTGTTGACGTGGAGAGATAAAGCCGAGCACTGGTGAGGAGCGGGGCGGTTCGCGAAGAGCAGGAGGTCGAGTCCTCGCGGGGAGTGCGCGAGCCGCTGCAGCGTGTTTGAGGGGGGCAGCGGGCTTGCTGCCTGGGCCGAGGGCACTGAACCCCGGCCTGGGAGACTGCAGGGTCGCCCTCCCGCCCCTTGGCGGTTGGAGAAACTCCCGAGGGTTGGAGAGCGGCAAAGGGAGGTGCCGCGCCTGAGGTGGTGGCGGGTGGAGGCGGCTCTTCCCTCACGGTCTGGCCCTGTCGCTGCCTTGGATTCATCTCACACCCACGAGACAGCACGAAGCTGCTCAAGCTTCACAGTTCTTGCCACATCCACATAGTACCCATACTCTTGTTTTCTTGACGTTTTTCTCTAAATTGTCTCATTTATTTTAATTATGATTTCACATTTTACAAGGAAACTTTATTACTCCATTTATGAAAACCAGTGTCACTTGCTCTAAATGTTAAGATAAAATCAGCGTCGCTTGCTCTAAGTGTAAAAGTAAAACTTAAAGTAGGGAGAAACAAAACTGAACAAGCTGTAGCTAGCTATTGTTGCTAGGGAGCCTTTAAACCTGAGATCTCGTTTCTCTAAAACTGGAGATGGGCAGGTATGATCAGAAAGGTGCTCAAAATGAGCACCAAACACAAGCTCTCCTAATTGGGAAGTCTGAAAAAGAACTGAAGGGGAATGACTTTGTCACCTTTTGATTCAGTTATTTAATGTCCTATTCCATTGTTATCGCCTAAATCTATAACATAGCAGTCTGTTTTGTCATATTCTTACTTATGGGATAGGTCTTGGCCTGACTTTGAAAATCATTCAGCATTGTTGTGAAGCCTCTGTTCTGGCCACTGGAGCAGGTTACTTGTCTTTGGTTCTGTCCCTTCTGAGATCTTTCTCTGTGTAAAGCATGCCGTCTCTCCTCATCTCACACGGAAATCCTGAACATCCTTCAAGGCTCACGTTGGAGACGGGTCCTCTCTTTTGTGTTCGGCACTAGTGGTAGCTGACACTATGTGCCAGGTGCTGGCTAAGCACTTCATATCCTTTATCTCGTTGTGTCTTCACCACTCTCTAAGGTAGGTACTATAATTTCCTCTATTTTATGTATGAGGAAACTGAAGCCCAGAGAGGGTGGATAATTTGCCAGCGTCACACAGTGAGGGGTGGAACCAGCTTTCAAGCTCAGGTCTTCCTCACTCCAACGTCAACGCTCTCAGCCACTACATTAATTTTTCCTTATGTTACAGACGTGGCAAACTCAAATGTCTGCAGGAGACAGGCAGGTAACATAAATGGGAGATGTTTATTTGCATCTTCAACACTAGGAATTGTATGTTTTCCCTAGGAATAGTCTTGTATTCTGTACCCCATTTTTCTTGAAACACAGCCGTATCAGTGAATCTTTCATTTGTACTTTTAATAGAGATTTGAGTTTTAAAAAATCATTTTACTTTTAACTTTATTATAAACGTACCTATAGCACAAGCTGATGATAGCTGGCAACTGAACATTTGGCTTCAATGTCAGAGTAATAGAGTGTGGCAAACTGCAGAGCTCATGCTCGGCCTAAAAGGGGCAGCTGCTGCTCAGCTCCTGCCAATTACCACCATGCAGGAATTTGGCCTAGTGTGCTCAGCTCTTCCTGTTTTTACCAGAAGCTAGGAATCTGGGTTTTTATGTGAAATGGCCTAATTTTTAAATGTTAGCATCCACTCTGAAAAAAAAACAAAACACCGTGTGGGCCAAATAAAACATTTGCTGGCCGAATGCAGCCTGATTTGCTCTGTTTTCAACCCCTGGCACAGAATTTTGTTCATTTCTCTCTTGTGGTACTTCCAGAGTCTGTTGAGCATAAGAGTTAATTTTTTAAATCTGTTTAATTCAGAAGTCTAATAAACCCGTTAAAGGCAATGGCTATGTCTTACTCGTTTCCAAATTATTCTAGAGACAGGTCAGTGGTTGTTGTTACTATGGATAGTAATAAAATACTAGATATATATAAAACGAAATACTGTGGG
GCTTAAATAAATCAGTGAGTTACACTGTCTTCTCTGCAAATAAATGAGGTAAAAGTTTTACATAATGTAAAATTTCTGGGAGAGAGTGTGTATCACTTTCATCAGATGTAATCCTCCAGAAGGTAAATAATTTGATACAGAATTTTTGAATCTTCTTCATTCTTGATCCTCATGGTAACCTTGTAGGTACAATAAGGTTTACTCTCAATTTATTGATAAAATTGAGTGACAGGTTAAATTACTTGCAGAACAGACACGAGAACCCAAGTCTACCAAATCTTGGTCTAATACTTCTCCCCCATACTGTTATTGAAAAAAGCTGGCAAGGCAAGGTGGCTCATTCCTGTAATGCTAGCACTTTGGGAGGAGGAAGTGGGAAGATCACCTGATCCCAAGAGTTTGAGACCAGCCTGGAGAGCACAGTGAGATCCTCGTCTTTGCAAAAAATGAAAAAAAAAACCCAAAAAAACAAAAAAAAACAAGCAACCGGGCGTGGTGGAGCATACCTGTGGTCCCAGCTACTAAGGAGGCCGGGGTAGGAGGACTGCTTAAGTCCGGCAGGTCAAGGCTTCAGGGAGCTATGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACCTCATCTCAAAAAAAAACCCACTAAACTAAAACTTCATTAAAGTTCCAATGTGTCTTCTATGATGAAAACATACTTTTAAAATTAAAAAAAAAATTTCAGTAAAGTGTATCCTAATCACTAAACCACAGATTGTAAAAGGTGGATGGGTCTAGAGAGATCATTTAACCCAAGTTCTTTTCTACAAATAGGGAAACTGCAAGAACTAGAATTAGAATCAAGGTTTTCTGATGTAATTTGGGGTAAAATAATTTTGAGGAGCTGGATGGATCTTATGAAATGATATTGTTTACAATTTTAGAGATAAAAATACTGAAGCCTGGTGGAATCAGCACAAACTCTTAAGAGACTGGGGCTCAAATTCCAGCTCTACCAGCTGTAAGTTTAGCAGCAAGTTACTTAACATCTCAAAGTCTCGGTAAAAGACTCTGTAAAAAGAAGGTGATGCCTCTTTCAAAGTAGTTCTTAGTATTAAATTTTGAAAAAAGTAGGTAAATCTTAACCTCCTATCACACACGTAGTCTAATGACTTCCTAGGATCCTCCAACCCCAAGGGGACCTCTTTCACAAAACCTCCCGGCTCCCCCCCAGTCTCCCTAGTCATCTTAGATGAGGAAGTCGAGCGCACCCCAGGGCTGATCGCACAGGAAGAGCACCTGGGCTCCAGACCCTAGTAACTAAACCCGTGGGCTTCGAGGTTTCTGCCGACCCTCTGTCAAAGGTTAGAAAGGCCCACACACTGTCCACTCTCCCGATACCATTTTACAGGTGGTGAAACTGAGGCCCAAAAGGGGACAGTAACTTACCGGAGGTCATTCGGCGGGTCTGGGACTAGGCGCTCACTAGAGGTGACGGTGGGGGCAGCTCCGCGGTCCCCCAGACTCAGACTCTCCAGCCCAGTCGTGCCCATCGAGCAGGGTCCGGCTGCAGCAACGAGCCCAGCGCCGCAACGCCCAGGGTGTGGGGCGGAGTAAGATGTGAAACCTCTTCAGCTCACGGCACCGGGCTGCAACCGAGGTCTGAATGTTGCGAAAGCGCCCCAGACGCCGCCGCTGCTTTCCGGCCGCCCCCTCGGCTACAGCCGCCATTTCCACGCTCCACCAATCAAATCCATTCTCGAGGAAGACGCACCGCCCCCACACGCCCCGACCAATCGCTCGCGCTCTGGTTGCGCTGGCGCCTTAGGGGCTCCAGTGCCACCATTGCTTTTGCTGCTTTTCTGGCTTTCCCTTTCGGACATGCGCGCTCGGAGCAAGGCGCCCTCGCACTCAGCTTACCGCGCATGTACGTTGCCAGGGGTAACGCAGGTAGCCAAAGTGGCTTGTGGAGTGGCGACCGTTAGTGAGGCGGTTGCTGAGACAGACGCTGAGGCGGGTAGGAGGAGCCCGAGCCGTAAGGGAAGCCGTGATGAGGGCCGTGTTGACGTGCAGAGATAAAGCCGAGCACTGGTGAGGAGCGGGGCGGTTCGCGAAGAGCAGGAGGTCGAGTCCTCGCGGGGAGTGCGCGAGCCGCTGCAGCGTGTTTGAGGGGGGCAGCGGGCTTGCTGCCTGGGCCGAGGGCACTGAACCCCGGCCTGGGAGACTGCAGGGTCGCCCTCCCGCCCCTTGGCGGTTGGAGAAACTCCCGAGGGTTGGAGAGCGGCAAAGGGAGGTGCCGCGCCTGAGGTGGTGGCGGGTGGAGGCGGCTCTTCCCTCACGGTCTGGCCCTGTCGCTGCCTTGGATTCATCTCACACCCACGAGACAGCACGAAGCTGCTCAAGCTTCACAGTTCTTGCCACATCCACATAGTACCCATACTCTTGTTTTCTTGACGTTTTTCTCTAAATTGTCTCATTTATTTTAATTATGATTTCACATTTTACAAGGAAACTTTATTACTCCATTTATGAAAACCAGTGTCACTTGCTCTAAATGTTAAGATAAAATCAGCGTCGCTTGCTCTAAGTGTAAAAGTAAAACTTAAAGTAGGGAGAAACAAAACTGAACAAGCTGTAGCTAGCTATTGTTGCTAGGGAGCCTTTAAACCTGAGATCTCGTTTCTCTAAAACTGGAGATGGGCAGGTATGATCAGAAAGGTGCTCAAAATGAGCACCAAACACAAGCTCTCCTAATTGGGAAGTCTGAAAAAGAACTGAAGGGGAATGACTTTGTCACCTTTTGATTCAGTTATTTAATGTCCTATTCCATTGTTATCGCCTAAATCTATAACATAGCAGTCTGTTTTGTCATATTCTTACTTATGGGATAGGTCTTGGCCTGACTTTGAAAATCATTCAGCATTGTTGTGAAGCCTCTGTTCTGGCCACTGGAGCAGGTTACTTGTCTTTGGTTCTGTCCCTTCTGAGATCTTTCTCTGTGTAAAGCATGCCGTCTCTCCTCATCTCACACGGAAATCCTGAACATCCTTCAAGGCTCACGTTGGAGACGGGTCCTCTCTTTTGTGTTCGGCACTAGTGGTAGCTGACACTATGTGCCAGGTGCTGGCTAAGCACTTCATATCCTTTATCTCGTTGTGTCTTCACCACTCTCTAAGGTAGGTACTATAATTTCCTCTATTTTATGTATGAGGAAACTGAAGCCCAGAGAGGGTGGATAATTTGCCAGCGTCACACAGTGAGGGGTGGAACCAGCTTTCAAGCTCAGGTCTTCCTCACTCCAACGTCAACGCTCTCAGCCACTACATTAATTTTTCCTTATGTTACAGACGTGGCAAACTCAAATGTCTGCAGGAGACAGGCAGGTAACATAAATGGGAGATGTTTATTTGCATCTTCAACACTAGGAATTGTATGTTTTCCCTAGGAATAGTCTTGTATTCTGTACCCCATTTTTCTTGAAACACAGCCGTATCAGTGAATCTTTCATTTGTACTTTTAATAGAGATTTGAGTTTTAAAAAATCATTTTACTTTTAACTTTATTATAAACGTACCTATAGCACAAGCTGATGATAGCTGGCAACTGAACATTTGGCTTCAATGTCAGAGTAATAGAGTGTGGCAAACTGCAGAGCTCATGCTCGGCCTAAAAGGGGCAGCTGCTGCTCAGCTCCTGCCAATTACCACCATGCAGGAATTTGGCCTAGTGTGCTCAGCTCTTCCTGTTTTTACCAGAAGCTAGGAATCTGGGTTTTTATGTGAAATGGCCTAATTTTTAAATGTTAGCATCCACTCTGAAAAAAAAACAAAACACCGTGTGGGCCAAATAAAACATTTGCTGGCCGAATGCAGCCTGATTTGCTCTGTTTTCAACCCCTGGCACAGAATTTTGTTCATTTCTCTCTTGTGGTACTTCCAGAGTCTGTTGAGCATAAGAGTTAATTTTTTAAATCTGTTTAATTCAGAAGTCTAATAAACCCGTTAAAGGCAATGGCTATGTCTTACTCGTTTCCAAATTATTCTAGAGACAGGTCAGTGGTTGTTGTTACTATGGATAGTAATAAAATACTAGATATATATAAAACGAAATACTGTGGG
Task1_train_7523
Given a variant located on Chromosome 3 and affecting IFT122 (intraflagellar transport 122), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Cranioectodermal dysplasia 1
TTACAGGATAGATGTGGCAAGTATGTGTACTTTTGAGTGCTGCCTCTGGCCTAGGCTGCCTGGGTGGGGGTTTGCATTGAAGATCTGAGGCTGAATTGGGCTCCGTGGGGAAGCCTTGCATGGAGTCTTGGATTAACGATGCCAATCGTGGGGTCTACATTGGGTTAGATAGATGGATACTGAATGTGTAGGTATTTTCTCCCCTTAGGGACAGAAAGATCTCCTTGGGGAGGTCTGGGGGCACTTATTCTGTTGAATTTCCATGCAGAGCTGGGTTTGCTTCCTAGGAGAAACGGCTGCAGTGCCTGTCCTTCAGCGGAGTGAAGGAGCGGGAGTGGCAGATGGAGTCTCTCATTCGTTACATCAAGGTGATCGGTGGCCCTCCTGGAAGAGAAGGCCTCTTAGTGGGGCTGAAGAATGGACAGGTGAGTGCTCCCTCACGTCTCCTGTCAGGCTGATAATCTGCATGCACACGTGGGTGACCCGTCTAGCAATGACTCTGAGCTGGGTTCTCAGGGCAGGAAAAGGGCTTCTCTCCTCCATGGGTGAATTGTGGGGCAGCCTGAGTTCAGTTTTTTGAGGACAGCCTCAGGCCAAAGGTGCTGTGGCCCTCACACTCCTAGCAGGCCCACGTTTTGGCAGAGTTGAGCTATAACCTTTGGCTACATGTAGAGTGTATTAGTGGCTTAAGGTCTCCAGAAGGTGGGAGATTTGTTAGAGATGTTGCTTCTGTGGATTTCTAGAGGGAGGCAGAGATCGTTACCTAGGTCAGCTCCTGATTAGGGCAGCGAGTGGATTAAGGCAGTGCGTTCCAGCATGTGTCCTAAAGAATGCTGGGTCCTCAAGATACTGATAGATGTCATAAGCAAAATGGGCCCTTTGGCCAGTTAGATGTGGGATATCCAGGTTACACAAAATTCTGTGTGTGTGTATACATGTGTACACGTGTGTTCTTTGCTCAGCATAAGAAAAGTTCTAAGTAGGCTGCTACATGGAACTTTGAAAGTGACAATGTAGCTGCATTAGCCTGACAGCCAAGCTGTGCAGCAGATGGCTTATGGCTGAGGCTTGTCAGGTCTTTGCTGGGGATGGAAGTCACAGGGCATGAGAGCAGTGGGTGAAGTCAAGCAGCAATGCCAAGGGGAGGAAGGGCCGCTTATTTCTCAGGCAGCTCTCACTTCCAATGGGAGCATGGACTATGGGGTCAGGTGGGCCGGAGGTCGTGTTCTTACTTAGCTACTCACTGGCTTTGTCATCCTGGGCAGGTCACTTTACCTCTGTGAGGCTGGTTTTACATGAGGATAATACCACATATTTCATAGGGCTGTCAAAAACAGATATCATCAGGGTTGGGAGTTAAAGCCAATGTTAAAAACAAAACAAAACAAAAAAAACACCAGGGGTATTAAAACAGGCATGGTGGAGGGTACCTGTTTTCCCAGCTACTCAGGAGGCTGAGATAGGAGGATCACTTTGAGCCCAGGAGTTTGAGGCTGCAGTGTGATATGATTATACCTGTGAATAGCCACTGCGATCAGCCTGGGCAACATAGCAAGACCTTATCTCTAAAAAAAATTTTTTTTAAACCAGGGATATCAGTAAATGATAGCTATCATGATCACTATCATCATTATTATAATTTTCTACCACATGTCTTGTCAGTGTTCATAGTAGCTTTTTCCTGTGTTAGTTCGTGACTCAGATCTCTGCTAGGTGGCATCTCCTAAAGCTGCAGTTTGGGTAATGTCATCAACAAATCCCCAGTCCGAACAGACACTGAAGTGAGCTCGGCCTGTCTCAGGGCTGTCATTACTTCTGCAGCCTCTGATGAACCTCGCTTCTGGCCTCCTAAGGATAAGCCATTGCCCCCCACCCCCCTCTTTCTTTTGATGAGTCCTTTTCCCTGCACAGAGCTTCTGGTGAAGGTGGTGGGAGTTGTTCTTGCAGAGCACATGGGATTCCAACGGCCTGGCAGTGGGCCAGGATCTTGTTGCCATGGTGACTGACACTGTTTTCGCTGAAATTTTGCCAGATCCTGAAGATCTTCGTGGACAATCTCTTTGCTATCGTCCTGCTGAAGCAGGCCACAGCTGTGCGCTGCTTGGACATGAGTGCCTCCCGTAAGAAGCTGGCCGTGGTAGATGAAAATGACACTTGCCTGGTGTATGACATCGACACCAAGGAGCTGCTTTTTCAGGTGAAGTCCCTGAGGGGGCCCAGGGACATCATCCTTTGATTAGAGACTCTCCTCTAGCTTCCCAGTCCCTGCAGGAGGCTCTCCTGCTCTGGCCCAGGCAGGTCTCTGGGAGGGGCAGGGGCCAAGCACATGCACAGAGTCCCAGAGGCCCTGGGCCACAACCTGCTCCTCCCACACAGGCACAAGCCGCAGGGCCTGGACCGGCCTCTTTAACTTTGGTTTCCTTGCCAATGGAAACCGAAGGCTCTGAGCCAGCAGAGCCTTTCTTAAGCGTTTACCATGAACAAGAAATGGGGCAATGACTCTGAGAGGGGTGTGACGTTGGCACTCAGTGAATGGGGCGATGGATGCACTTCCTTTGCAGAAGTCTGTGTCTCACCTGCTGCAGGCCTGCCTGTGTCTATGCGCACCTACAGCGTGGGAAGGAAACAGGATGTTTTGTCATCTGAAAGGGGGAAGGGGATGGGCAAGCCTGGCCTTCTACTTAATTCACAAGAATGCTAGAAGAGCCAGCAGAATGCGAAGTGCTTGGATCTTTGGGGTTGTAGGCGTTGTTCAGTGGAGTCATCCAGCCCTGTGGCCTGAGGAAGTGTGTCACCAGAGAAGACAGCCCGGCAGCTCTGTGCCCCGGGCCTGGTTGGCTTTCTGCTGGGCTCGCGCCATTCTTTCTCTCTTTAGGTCTTTGTAGGTGGTCAGGACTGGTTTTCCAGAGTGAAGTTCCCCCCAAAGCTGGAGCCCCTCCTGACTGGTTTCCTCGGCCACTGCAGGGTTTCCTGATGTTATGGGCAGATTCAGTCCCCTTACCAGGCTCCTCCTTGTTCTCAGCAGCAGAATCGATGGGGGAGGGGTCTGGAGTGGGGAGCAGCCTCAGTCAATTAGAAGGAGTTACCTGGCCACCTCTAGCCCAGAGGTAACTCCATGTCAGTCTCAACTCACTCATGTCCTTGAGAGAGTAGAATGGTTTCGGGGAAAGAGAGGGCATAGCCTTCAAGCTGACCTGGGCTTGGGTCCTGCCTGCATCCCTTACTGTGTGATCTTAAGTTAGTGAGCCTCTCTGAGCCTTAATTACTTTTCTCTAAAATGAAATTAGTAATTGCCCCTTACAGAATTGCTACAGGAATACACTAGATACTACAGTGCCTAGCTCAGTGTTGAGCACAAAATGGGGCCTGAAATGTTACTTCCCTTCTCCCCAGCCTCACCTCCCACCTATAGGGGGCATAGCTGGCCCCAAATGTGAATCTTGTGTCTGAGCCTAGAATCATACAAGTGTGGAAGGGCGTCTGTGCTGCCCCATCCCCACTGCTGGCTCTATGGCAGGCTAGGGGAGGTGATTCTCAGCCCTGCCAGGAGACATCAGCATTCCCAGCTGTAACATTGCCTGCTGGCTTTTCCTCTTCTCCACTGCCCCTCCCTCTACACATAAAACAGCTATATTGATTTTTTCTCATTATAAAAAACAATCCATGCTGATTATAAAAGATTTAGTCATTATAAAAGATCCTAGGCAGAAAGGTATGAGCATATTTCAGGAGAATAATTTTTTTTCAAAAGTAATACTTGCTTACTCAAAAATTCCAACAACACGCAGGTGCATGGAGGGGCTTGCCTCTGTTCATTTCTCTTGCCTCTGTTCATTTCTTTGTGGTCCCCTTTCATCCTTTTCCCTCCATCCCACTGTAAGCAATTTAGTGGGATTCAGTCTTTAAGAGGGTATTGGGCTGAAATGTGTGAGCGCTGACCAAGCCCAGGGTGGTTCTCACAGGATCCCCACTGTCCCTGTTCCCCAGGAACCAAACGCCAACAGTGTAGCTTGGAACACCCAGTGTGAGGACATGCTCTGCTTCTCGGGAGGAGGCTACCTCAACATCAAAGCCAGCACCTTCCCTGTGCACCGGC
TTACAGGATAGATGTGGCAAGTATGTGTACTTTTGAGTGCTGCCTCTGGCCTAGGCTGCCTGGGTGGGGGTTTGCATTGAAGATCTGAGGCTGAATTGGGCTCCGTGGGGAAGCCTTGCATGGAGTCTTGGATTAACGATGCCAATCGTGGGGTCTACATTGGGTTAGATAGATGGATACTGAATGTGTAGGTATTTTCTCCCCTTAGGGACAGAAAGATCTCCTTGGGGAGGTCTGGGGGCACTTATTCTGTTGAATTTCCATGCAGAGCTGGGTTTGCTTCCTAGGAGAAACGGCTGCAGTGCCTGTCCTTCAGCGGAGTGAAGGAGCGGGAGTGGCAGATGGAGTCTCTCATTCGTTACATCAAGGTGATCGGTGGCCCTCCTGGAAGAGAAGGCCTCTTAGTGGGGCTGAAGAATGGACAGGTGAGTGCTCCCTCACGTCTCCTGTCAGGCTGATAATCTGCATGCACACGTGGGTGACCCGTCTAGCAATGACTCTGAGCTGGGTTCTCAGGGCAGGAAAAGGGCTTCTCTCCTCCATGGGTGAATTGTGGGGCAGCCTGAGTTCAGTTTTTTGAGGACAGCCTCAGGCCAAAGGTGCTGTGGCCCTCACACTCCTAGCAGGCCCACGTTTTGGCAGAGTTGAGCTATAACCTTTGGCTACATGTAGAGTGTATTAGTGGCTTAAGGTCTCCAGAAGGTGGGAGATTTGTTAGAGATGTTGCTTCTGTGGATTTCTAGAGGGAGGCAGAGATCGTTACCTAGGTCAGCTCCTGATTAGGGCAGCGAGTGGATTAAGGCAGTGCGTTCCAGCATGTGTCCTAAAGAATGCTGGGTCCTCAAGATACTGATAGATGTCATAAGCAAAATGGGCCCTTTGGCCAGTTAGATGTGGGATATCCAGGTTACACAAAATTCTGTGTGTGTGTATACATGTGTACACGTGTGTTCTTTGCTCAGCATAAGAAAAGTTCTAAGTAGGCTGCTACATGGAACTTTGAAAGTGACAATGTAGCTGCATTAGCCTGACAGCCAAGCTGTGCAGCAGATGGCTTATGGCTGAGGCTTGTCAGGTCTTTGCTGGGGATGGAAGTCACAGGGCATGAGAGCAGTGGGTGAAGTCAAGCAGCAATGCCAAGGGGAGGAAGGGCCGCTTATTTCTCAGGCAGCTCTCACTTCCAATGGGAGCATGGACTATGGGGTCAGGTGGGCCGGAGGTCGTGTTCTTACTTAGCTACTCACTGGCTTTGTCATCCTGGGCAGGTCACTTTACCTCTGTGAGGCTGGTTTTACATGAGGATAATACCACATATTTCATAGGGCTGTCAAAAACAGATATCATCAGGGTTGGGAGTTAAAGCCAATGTTAAAAACAAAACAAAACAAAAAAAACACCAGGGGTATTAAAACAGGCATGGTGGAGGGTACCTGTTTTCCCAGCTACTCAGGAGGCTGAGATAGGAGGATCACTTTGAGCCCAGGAGTTTGAGGCTGCAGTGTGATATGATTATACCTGTGAATAGCCACTGCGATCAGCCTGGGCAACATAGCAAGACCTTATCTCTAAAAAAAATTTTTTTTAAACCAGGGATATCAGTAAATGATAGCTATCATGATCACTATCATCATTATTATAATTTTCTACCACATGTCTTGTCAGTGTTCATAGTAGCTTTTTCCTGTGTTAGTTCGTGACTCAGATCTCTGCTAGGTGGCATCTCCTAAAGCTGCAGTTTGGGTAATGTCATCAACAAATCCCCAGTCCGAACAGACACTGAAGTGAGCTCGGCCTGTCTCAGGGCTGTCATTACTTCTGCAGCCTCTGATGAACCTCGCTTCTGGCCTCCTAAGGATAAGCCATTGCCCCCCACCCCCCTCTTTCTTTTGATGAGTCCTTTTCCCTGCACAGAGCTTCTGGTGAAGGTGGTGGGAGTTGTTCTTGCAGAGCACATGGGATTCCAACGGCCTGGCAGTGGGCCAGGATCTTGTTGCCATGGTGACTGACACTGTTTTCGCTGAAATTTTGCCAGATCCTGAAGATCTTCGGGGACAATCTCTTTGCTATCGTCCTGCTGAAGCAGGCCACAGCTGTGCGCTGCTTGGACATGAGTGCCTCCCGTAAGAAGCTGGCCGTGGTAGATGAAAATGACACTTGCCTGGTGTATGACATCGACACCAAGGAGCTGCTTTTTCAGGTGAAGTCCCTGAGGGGGCCCAGGGACATCATCCTTTGATTAGAGACTCTCCTCTAGCTTCCCAGTCCCTGCAGGAGGCTCTCCTGCTCTGGCCCAGGCAGGTCTCTGGGAGGGGCAGGGGCCAAGCACATGCACAGAGTCCCAGAGGCCCTGGGCCACAACCTGCTCCTCCCACACAGGCACAAGCCGCAGGGCCTGGACCGGCCTCTTTAACTTTGGTTTCCTTGCCAATGGAAACCGAAGGCTCTGAGCCAGCAGAGCCTTTCTTAAGCGTTTACCATGAACAAGAAATGGGGCAATGACTCTGAGAGGGGTGTGACGTTGGCACTCAGTGAATGGGGCGATGGATGCACTTCCTTTGCAGAAGTCTGTGTCTCACCTGCTGCAGGCCTGCCTGTGTCTATGCGCACCTACAGCGTGGGAAGGAAACAGGATGTTTTGTCATCTGAAAGGGGGAAGGGGATGGGCAAGCCTGGCCTTCTACTTAATTCACAAGAATGCTAGAAGAGCCAGCAGAATGCGAAGTGCTTGGATCTTTGGGGTTGTAGGCGTTGTTCAGTGGAGTCATCCAGCCCTGTGGCCTGAGGAAGTGTGTCACCAGAGAAGACAGCCCGGCAGCTCTGTGCCCCGGGCCTGGTTGGCTTTCTGCTGGGCTCGCGCCATTCTTTCTCTCTTTAGGTCTTTGTAGGTGGTCAGGACTGGTTTTCCAGAGTGAAGTTCCCCCCAAAGCTGGAGCCCCTCCTGACTGGTTTCCTCGGCCACTGCAGGGTTTCCTGATGTTATGGGCAGATTCAGTCCCCTTACCAGGCTCCTCCTTGTTCTCAGCAGCAGAATCGATGGGGGAGGGGTCTGGAGTGGGGAGCAGCCTCAGTCAATTAGAAGGAGTTACCTGGCCACCTCTAGCCCAGAGGTAACTCCATGTCAGTCTCAACTCACTCATGTCCTTGAGAGAGTAGAATGGTTTCGGGGAAAGAGAGGGCATAGCCTTCAAGCTGACCTGGGCTTGGGTCCTGCCTGCATCCCTTACTGTGTGATCTTAAGTTAGTGAGCCTCTCTGAGCCTTAATTACTTTTCTCTAAAATGAAATTAGTAATTGCCCCTTACAGAATTGCTACAGGAATACACTAGATACTACAGTGCCTAGCTCAGTGTTGAGCACAAAATGGGGCCTGAAATGTTACTTCCCTTCTCCCCAGCCTCACCTCCCACCTATAGGGGGCATAGCTGGCCCCAAATGTGAATCTTGTGTCTGAGCCTAGAATCATACAAGTGTGGAAGGGCGTCTGTGCTGCCCCATCCCCACTGCTGGCTCTATGGCAGGCTAGGGGAGGTGATTCTCAGCCCTGCCAGGAGACATCAGCATTCCCAGCTGTAACATTGCCTGCTGGCTTTTCCTCTTCTCCACTGCCCCTCCCTCTACACATAAAACAGCTATATTGATTTTTTCTCATTATAAAAAACAATCCATGCTGATTATAAAAGATTTAGTCATTATAAAAGATCCTAGGCAGAAAGGTATGAGCATATTTCAGGAGAATAATTTTTTTTCAAAAGTAATACTTGCTTACTCAAAAATTCCAACAACACGCAGGTGCATGGAGGGGCTTGCCTCTGTTCATTTCTCTTGCCTCTGTTCATTTCTTTGTGGTCCCCTTTCATCCTTTTCCCTCCATCCCACTGTAAGCAATTTAGTGGGATTCAGTCTTTAAGAGGGTATTGGGCTGAAATGTGTGAGCGCTGACCAAGCCCAGGGTGGTTCTCACAGGATCCCCACTGTCCCTGTTCCCCAGGAACCAAACGCCAACAGTGTAGCTTGGAACACCCAGTGTGAGGACATGCTCTGCTTCTCGGGAGGAGGCTACCTCAACATCAAAGCCAGCACCTTCCCTGTGCACCGGC
Task1_train_7524
A mutation found in RHO (rhodopsin) on Chromosome 3 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Retinal dystrophy
CTGGCCATGAGGGTCCACGTCAGAATCAAACCCTCACCTTAACCTCATTAGCGTTGGGCATAATCACCAGGCCAAGCGCCTTAAACTACGAGAGGCCCCATCCCACCCGCCCTGCCTTAGCCCTGCCACGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTACGCAGCCCCTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCA
CTGGCCATGAGGGTCCACGTCAGAATCAAACCCTCACCTTAACCTCATTAGCGTTGGGCATAATCACCAGGCCAAGCGCCTTAAACTACGAGAGGCCCCATCCCACCCGCCCTGCCTTAGCCCTGCCACGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAGTGCGACGGGTGTGGTACGCAGCCCCTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCA
Task1_train_7525
Here is a variant affecting RHO (rhodopsin) on Chromosome 3. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Retinitis pigmentosa 4
CTGGCCATGAGGGTCCACGTCAGAATCAAACCCTCACCTTAACCTCATTAGCGTTGGGCATAATCACCAGGCCAAGCGCCTTAAACTACGAGAGGCCCCATCCCACCCGCCCTGCCTTAGCCCTGCCACGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTACGCAGCCCCTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCA
CTGGCCATGAGGGTCCACGTCAGAATCAAACCCTCACCTTAACCTCATTAGCGTTGGGCATAATCACCAGGCCAAGCGCCTTAAACTACGAGAGGCCCCATCCCACCCGCCCTGCCTTAGCCCTGCCACGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAGTGCGACGGGTGTGGTACGCAGCCCCTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCA
Task1_train_7526
The gene RHO (rhodopsin), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Retinitis pigmentosa 4
ATGAGGGTCCACGTCAGAATCAAACCCTCACCTTAACCTCATTAGCGTTGGGCATAATCACCAGGCCAAGCGCCTTAAACTACGAGAGGCCCCATCCCACCCGCCCTGCCTTAGCCCTGCCACGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTACGCAGCCCCTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCC
ATGAGGGTCCACGTCAGAATCAAACCCTCACCTTAACCTCATTAGCGTTGGGCATAATCACCAGGCCAAGCGCCTTAAACTACGAGAGGCCCCATCCCACCCGCCCTGCCTTAGCCCTGCCACGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGATGGGTGTGGTACGCAGCCCCTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCC
Task1_train_7527
A genetic alteration is present in RHO (rhodopsin) on Chromosome 3. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Retinal dystrophy
ATGAGGGTCCACGTCAGAATCAAACCCTCACCTTAACCTCATTAGCGTTGGGCATAATCACCAGGCCAAGCGCCTTAAACTACGAGAGGCCCCATCCCACCCGCCCTGCCTTAGCCCTGCCACGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTACGCAGCCCCTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCC
ATGAGGGTCCACGTCAGAATCAAACCCTCACCTTAACCTCATTAGCGTTGGGCATAATCACCAGGCCAAGCGCCTTAAACTACGAGAGGCCCCATCCCACCCGCCCTGCCTTAGCCCTGCCACGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGATGGGTGTGGTACGCAGCCCCTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCC
Task1_train_7528
Gene RHO (rhodopsin) on Chromosome 3 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; not specified
ATGAGGGTCCACGTCAGAATCAAACCCTCACCTTAACCTCATTAGCGTTGGGCATAATCACCAGGCCAAGCGCCTTAAACTACGAGAGGCCCCATCCCACCCGCCCTGCCTTAGCCCTGCCACGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTACGCAGCCCCTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCC
ATGAGGGTCCACGTCAGAATCAAACCCTCACCTTAACCTCATTAGCGTTGGGCATAATCACCAGGCCAAGCGCCTTAAACTACGAGAGGCCCCATCCCACCCGCCCTGCCTTAGCCCTGCCACGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGATGGGTGTGGTACGCAGCCCCTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCC
Task1_train_7529
Gene RHO (rhodopsin), found on Chromosome 3, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Retinitis pigmentosa 4
AATCAAACCCTCACCTTAACCTCATTAGCGTTGGGCATAATCACCAGGCCAAGCGCCTTAAACTACGAGAGGCCCCATCCCACCCGCCCTGCCTTAGCCCTGCCACGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTACGCAGCCCCTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTG
AATCAAACCCTCACCTTAACCTCATTAGCGTTGGGCATAATCACCAGGCCAAGCGCCTTAAACTACGAGAGGCCCCATCCCACCCGCCCTGCCTTAGCCCTGCCACGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTACGCAGCGCCTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTG
Task1_train_7530
This variant affects gene RHO (rhodopsin) located on Chromosome 3. Evaluate its biological effect and specify any disease association.
Pathogenic; Retinitis pigmentosa 4
ATCAAACCCTCACCTTAACCTCATTAGCGTTGGGCATAATCACCAGGCCAAGCGCCTTAAACTACGAGAGGCCCCATCCCACCCGCCCTGCCTTAGCCCTGCCACGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTACGCAGCCCCTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGT
ATCAAACCCTCACCTTAACCTCATTAGCGTTGGGCATAATCACCAGGCCAAGCGCCTTAAACTACGAGAGGCCCCATCCCACCCGCCCTGCCTTAGCCCTGCCACGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTACGCAGCCACTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGT
Task1_train_7531
Consider a variant on Chromosome 3 in gene RHO (rhodopsin). Determine its clinical classification and disease relevance.
Pathogenic; Retinal dystrophy
ATCAAACCCTCACCTTAACCTCATTAGCGTTGGGCATAATCACCAGGCCAAGCGCCTTAAACTACGAGAGGCCCCATCCCACCCGCCCTGCCTTAGCCCTGCCACGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTACGCAGCCCCTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGT
ATCAAACCCTCACCTTAACCTCATTAGCGTTGGGCATAATCACCAGGCCAAGCGCCTTAAACTACGAGAGGCCCCATCCCACCCGCCCTGCCTTAGCCCTGCCACGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTACGCAGCCACTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGT
Task1_train_7532
Gene RHO (rhodopsin) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Pigmentary retinal dystrophy
ATCAAACCCTCACCTTAACCTCATTAGCGTTGGGCATAATCACCAGGCCAAGCGCCTTAAACTACGAGAGGCCCCATCCCACCCGCCCTGCCTTAGCCCTGCCACGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTACGCAGCCCCTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGT
ATCAAACCCTCACCTTAACCTCATTAGCGTTGGGCATAATCACCAGGCCAAGCGCCTTAAACTACGAGAGGCCCCATCCCACCCGCCCTGCCTTAGCCCTGCCACGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTACGCAGCCACTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGT
Task1_train_7533
This sequence change occurs on Chromosome 3, altering RHO (rhodopsin). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Retinitis pigmentosa 4
ATCAAACCCTCACCTTAACCTCATTAGCGTTGGGCATAATCACCAGGCCAAGCGCCTTAAACTACGAGAGGCCCCATCCCACCCGCCCTGCCTTAGCCCTGCCACGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTACGCAGCCCCTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGT
ATCAAACCCTCACCTTAACCTCATTAGCGTTGGGCATAATCACCAGGCCAAGCGCCTTAAACTACGAGAGGCCCCATCCCACCCGCCCTGCCTTAGCCCTGCCACGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTACGCAGCCACTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGT
Task1_train_7534
This is a variant in RHO (rhodopsin), located on Chromosome 3. Is this mutation a likely cause of disease or not?
Pathogenic; Congenital stationary night blindness autosomal dominant 1
ATCAAACCCTCACCTTAACCTCATTAGCGTTGGGCATAATCACCAGGCCAAGCGCCTTAAACTACGAGAGGCCCCATCCCACCCGCCCTGCCTTAGCCCTGCCACGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTACGCAGCCCCTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGT
ATCAAACCCTCACCTTAACCTCATTAGCGTTGGGCATAATCACCAGGCCAAGCGCCTTAAACTACGAGAGGCCCCATCCCACCCGCCCTGCCTTAGCCCTGCCACGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTACGCAGCCACTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGT
Task1_train_7535
A variant affecting Chromosome 3, within the gene RHO (rhodopsin), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Retinal dystrophy
ATCAAACCCTCACCTTAACCTCATTAGCGTTGGGCATAATCACCAGGCCAAGCGCCTTAAACTACGAGAGGCCCCATCCCACCCGCCCTGCCTTAGCCCTGCCACGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTACGCAGCCCCTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGT
ATCAAACCCTCACCTTAACCTCATTAGCGTTGGGCATAATCACCAGGCCAAGCGCCTTAAACTACGAGAGGCCCCATCCCACCCGCCCTGCCTTAGCCCTGCCACGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTACGCAGCCTCTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGT
Task1_train_7536
Consider this mutation in RHO (rhodopsin) on Chromosome 3. Is this a benign change or a disease-causing variant?
Pathogenic; Retinal dystrophy
TAACCTCATTAGCGTTGGGCATAATCACCAGGCCAAGCGCCTTAAACTACGAGAGGCCCCATCCCACCCGCCCTGCCTTAGCCCTGCCACGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTACGCAGCCCCTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTG
TAACCTCATTAGCGTTGGGCATAATCACCAGGCCAAGCGCCTTAAACTACGAGAGGCCCCATCCCACCCGCCCTGCCTTAGCCCTGCCACGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTACGCAGCCCCTTCGAGTACCCACGGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTG
Task1_train_7537
The gene RHO (rhodopsin) on Chromosome 3 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; not provided
AACCTCATTAGCGTTGGGCATAATCACCAGGCCAAGCGCCTTAAACTACGAGAGGCCCCATCCCACCCGCCCTGCCTTAGCCCTGCCACGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTACGCAGCCCCTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGA
AACCTCATTAGCGTTGGGCATAATCACCAGGCCAAGCGCCTTAAACTACGAGAGGCCCCATCCCACCCGCCCTGCCTTAGCCCTGCCACGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTACGCAGCCCCTTCGAGTACCCACATTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGA
Task1_train_7538
Gene RHO (rhodopsin), found on Chromosome 3, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; not provided
GGCCCCATCCCACCCGCCCTGCCTTAGCCCTGCCACGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTACGCAGCCCCTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGC
GGCCCCATCCCACCCGCCCTGCCTTAGCCCTGCCACGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTACGCAGCCCCTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCGGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGC
Task1_train_7539
Here is a variant affecting RHO (rhodopsin) on Chromosome 3. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; RHO-related disorder
CGCCCTGCCTTAGCCCTGCCACGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTACGCAGCCCCTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTG
CGCCCTGCCTTAGCCCTGCCACGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTACGCAGCCCCTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGCGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTG
Task1_train_7540
The gene RHO (rhodopsin) on Chromosome 3 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Retinal dystrophy
GCCCTGCCTTAGCCCTGCCACGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTACGCAGCCCCTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGT
GCCCTGCCTTAGCCCTGCCACGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTACGCAGCCCCTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGTCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGT
Task1_train_7541
The gene RHO (rhodopsin) on Chromosome 3 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Retinitis pigmentosa 4
CCTTAGCCCTGCCACGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTACGCAGCCCCTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGC
CCTTAGCCCTGCCACGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTACGCAGCCCCTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCGCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGC
Task1_train_7542
Here’s a variant in RHO (rhodopsin) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; not provided
CCTGCCACGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTACGCAGCCCCTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAG
CCTGCCACGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTACGCAGCCCCTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAAGTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAG
Task1_train_7543
A genomic change on Chromosome 3 affects RHO (rhodopsin). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; not provided
TGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTACGCAGCCCCTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCT
TGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTACGCAGCCCCTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCACTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCT
Task1_train_7544
This variant affects the gene RHO (rhodopsin) found on Chromosome 3. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Retinitis pigmentosa
GGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTACGCAGCCCCTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGG
GGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTACGCAGCCCCTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAGCTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGG
Task1_train_7545
A change on Chromosome 3 affects gene RHO (rhodopsin). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Retinal dystrophy
TGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTACGCAGCCCCTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCT
TGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTACGCAGCCCCTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCATCCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCT
Task1_train_7546
With a mutation on Chromosome 3 in gene RHO (rhodopsin), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Pigmentary retinal dystrophy
GACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTACGCAGCCCCTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGT
GACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTACGCAGCCCCTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGATGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGT
Task1_train_7547
A mutation on Chromosome 3 affecting RHO (rhodopsin) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Retinitis pigmentosa 4
GACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTACGCAGCCCCTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGT
GACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTACGCAGCCCCTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGATGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGT
Task1_train_7548
A variant was discovered on Chromosome 3, affecting RHO (rhodopsin). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Retinal dystrophy
GACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTACGCAGCCCCTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGT
GACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTACGCAGCCCCTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGATGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGT
Task1_train_7549
An alteration has been detected in RHO (rhodopsin) on Chromosome 3. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Pigmentary retinal dystrophy
AGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTACGCAGCCCCTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAAT
AGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTACGCAGCCCCTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGACTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAAT
Task1_train_7550
Here is a variant affecting RHO (rhodopsin) on Chromosome 3. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Retinal dystrophy
AGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTACGCAGCCCCTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAAT
AGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTACGCAGCCCCTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGACTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAAT
Task1_train_7551
This sequence change occurs on Chromosome 3, altering RHO (rhodopsin). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Retinitis pigmentosa 4
TGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTACGCAGCCCCTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGC
TGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTACGCAGCCCCTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGTATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGC
Task1_train_7552
A variant was discovered on Chromosome 3, affecting RHO (rhodopsin). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; not provided
AGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTACGCAGCCCCTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCC
AGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTACGCAGCCCCTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCCGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCC
Task1_train_7553
This variant lies on Chromosome 3 and affects the gene RHO (rhodopsin). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Retinitis pigmentosa
CAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTACGCAGCCCCTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGAC
CAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTACGCAGCCCCTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGACGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGAC
Task1_train_7554
This alteration in RHO (rhodopsin) on Chromosome 3 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Retinitis pigmentosa 4
CAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTACGCAGCCCCTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGAC
CAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTACGCAGCCCCTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGACGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGAC
Task1_train_7555
Consider a variant on Chromosome 3 in gene RHO (rhodopsin). Determine its clinical classification and disease relevance.
Pathogenic; Retinal dystrophy
CAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTACGCAGCCCCTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGAC
CAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTACGCAGCCCCTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGACGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGAC
Task1_train_7556
The variant affects gene RHO (rhodopsin), which is on Chromosome 3. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Retinal dystrophy
AGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTACGCAGCCCCTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACT
AGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTACGCAGCCCCTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATACAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACT
Task1_train_7557
A mutation found in RHO (rhodopsin) on Chromosome 3 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Retinal dystrophy
GGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTACGCAGCCCCTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCA
GGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTACGCAGCCCCTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGAAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCA
Task1_train_7558
The variant affects gene RHO (rhodopsin), which is on Chromosome 3. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Retinitis pigmentosa 4
TTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTACGCAGCCCCTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAG
TTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTACGCAGCCCCTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGACTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAG
Task1_train_7559
This sequence change occurs on Chromosome 3, altering RHO (rhodopsin). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Retinal dystrophy
TTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTACGCAGCCCCTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAG
TTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACAGGCCGCCCCAGACACCCCACTTCATTCCTGGGAGGTGTCATCATGTTGCTTGGACGACGGGGAGAGGGGGACCTGCCAGTGTTGGCCTCCATTTTCCCCCAGTCATCTGCCCCCAAGGCTCTGACTACTTTCTTTCTCACGGTACATCCTGCTATTCTGGAATCGGCCCTCGTGGGGCCACCTGGTACATGGCATTTGAGGCCCTCGTGGCTGATTAGGCCTCCCCCAACAGTGCCCTGTCTGCTGCCTCCAGGGCCAGCCTCCCCTTCAGACTGGAGTCCCCTGAAGGGTTCTGCCCCTCCCCTGCTCTGGTAGCCCCCTCCATCCTCCCTCCCTCCACTCCATCTTTGGGGGCATTTGAGTCACCTTTCTACACCAGTGATCTGCCCAAGCCACTGCTCACTTTCCTCTGGATAAAGCCAGGTTCCCCGGCCTAGCGTTCAAGACCCATTACAACTGCCCCCAGCCCAGATCTTCCCCACCTAGCCACCTGGCAAACTGCTCCTTCTCTCAAAGGCCCAAACATGGCCTCCCAGACTGCAACCCCCAGGCAGTCAGGCCCTGTCTCCACAACCTCACAGCCACCCTGGACGGAATCTGCTTCTTCCCACATTTGAGTCCTCCTCAGCCCCTGAGCTCCTCTGGGCAGGGCTGTTTCTTTCCATCTTTGTATTCCCAGGGGCCTGCAAATAAATGTTTAATGAACGAACAAGAGAGTGAATTCCAATTCCATGCAACAAGGATTGGGCTCCTGGGCCCTAGGCTATGTGTCTGGCACCAGAAACGGAAGCTGCAGGTTGCAGCCCCTGCCCTCATGGAGCTCCTCCTGTCAGAGGAGTGTGGGGACTGGATGACTCCAGAGGTAACTTGTGGGGGAACGAACAGGTAAGGGGCTGTGTGACGAGATGAGAGACTGGGAGAATAAACCAGAAAGTCTCTAGCTGTCCAGAGGACATAGCACAGAGGCCCATGGTCCCTATTTCAAACCCAGGCCACCAGACTGAGCTGGGACCTTGGGACAGACAAGTCATGCAGAAGTTAGGGGACCTTCTCCTCCCTTTTCCTGGATCCTGAGTACCTCTCCTCCCTGACCTCAGGCTTCCTCCTAGTGTCACCTTGGCCCCTCTTAGAAGCCAATTAGGCCCTCAGTTTCTGCAGCGGGGATTAATATGATTATGAACACCCCCAATCTCCCAGATGCTGATTCAGCCAGGAGCTTAGGAGGGGGAGGTCACTTTATAAGGGTCTGGGGGGGTCAGAACCCAGAGTCATCCAGCTGGAGCCCTGAGTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCACAGCCATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTACGCAGCCCCTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGTCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAG
Task1_train_7560
Here is a genetic alteration in RHO (rhodopsin) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; not provided
AGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTG
AGTTCTCCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCGGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTG
Task1_train_7561
A mutation in RHO (rhodopsin), located on Chromosome 3, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Retinal dystrophy
CCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCA
CCATGCTGGCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTTCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCA
Task1_train_7562
An alteration has been detected in RHO (rhodopsin) on Chromosome 3. Is it pathogenic, and if so, what disease is involved?
Pathogenic; not provided
CTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGG
CTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGGGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGG
Task1_train_7563
This mutation is located in gene RHO (rhodopsin) on Chromosome 3. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Retinitis pigmentosa
CTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGG
CTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGTGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGG
Task1_train_7564
The gene RHO (rhodopsin) on Chromosome 3 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Retinitis pigmentosa 4
CTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGG
CTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGTGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGG
Task1_train_7565
This variant impacts the gene RHO (rhodopsin) on Chromosome 3. Is the change likely to result in a pathogenic outcome?
Pathogenic; Retinal dystrophy
CTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGG
CTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGTGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGG
Task1_train_7566
The variant affects gene RHO (rhodopsin), which is on Chromosome 3. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; not provided
TGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGGT
TGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCCGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGGT
Task1_train_7567
A variant was discovered on Chromosome 3, affecting RHO (rhodopsin). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Retinitis pigmentosa 4
TGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGGT
TGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCTGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGGT
Task1_train_7568
Here is a genetic alteration in RHO (rhodopsin) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Retinal dystrophy
TCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGGTGGGCCCAGGAACCTGCATTTCCAGCAAGCCCTCCACAGGTGGCTCAGATGCTCACTCAGGTGGGAGAAGCTCCAGTCAGCTAGTTCT
TCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGAGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGGTGGGCCCAGGAACCTGCATTTCCAGCAAGCCCTCCACAGGTGGCTCAGATGCTCACTCAGGTGGGAGAAGCTCCAGTCAGCTAGTTCT
Task1_train_7569
A change on Chromosome 3 affects gene RHO (rhodopsin). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; not provided
CCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGGTGGGCCCAGGAACCTGCATTTCCAGCAAGCCCTCCACAGGTGGCTCAGATGCTCACTCAGGTGGGAGAAGCTCCAGTCAGCTAGTTCTGGAAGCCCAA
CCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGGGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGGTGGGCCCAGGAACCTGCATTTCCAGCAAGCCCTCCACAGGTGGCTCAGATGCTCACTCAGGTGGGAGAAGCTCCAGTCAGCTAGTTCTGGAAGCCCAA
Task1_train_7570
Gene RHO (rhodopsin), found on Chromosome 3, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; not provided
GCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGGTGGGCCCAGGAACCTGCATTTCCAGCAAGCCCTCCACAGGTGGCTCAGATGCTCACTCAGGTGGGAGAAGCTCCAGTCAGCTAGTTCTGGAAGCCCAATGTC
GCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCCCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGGTGGGCCCAGGAACCTGCATTTCCAGCAAGCCCTCCACAGGTGGCTCAGATGCTCACTCAGGTGGGAGAAGCTCCAGTCAGCTAGTTCTGGAAGCCCAATGTC
Task1_train_7571
Given a variant located on Chromosome 3 and affecting RHO (rhodopsin), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Retinal dystrophy
GCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGGTGGGCCCAGGAACCTGCATTTCCAGCAAGCCCTCCACAGGTGGCTCAGATGCTCACTCAGGTGGGAGAAGCTCCAGTCAGCTAGTTCTGGAAGCCCAATGTCAAAGTC
GCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCTCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGGTGGGCCCAGGAACCTGCATTTCCAGCAAGCCCTCCACAGGTGGCTCAGATGCTCACTCAGGTGGGAGAAGCTCCAGTCAGCTAGTTCTGGAAGCCCAATGTCAAAGTC
Task1_train_7572
A variant affecting Chromosome 3, within the gene RHO (rhodopsin), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Retinitis pigmentosa
CTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGGTGGGCCCAGGAACCTGCATTTCCAGCAAGCCCTCCACAGGTGGCTCAGATGCTCACTCAGGTGGGAGAAGCTCCAGTCAGCTAGTTCTGGAAGCCCAATGTCAAAGTCA
CTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCGACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGGTGGGCCCAGGAACCTGCATTTCCAGCAAGCCCTCCACAGGTGGCTCAGATGCTCACTCAGGTGGGAGAAGCTCCAGTCAGCTAGTTCTGGAAGCCCAATGTCAAAGTCA
Task1_train_7573
This mutation is located in gene RHO (rhodopsin) on Chromosome 3. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Retinal dystrophy
TTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGGTGGGCCCAGGAACCTGCATTTCCAGCAAGCCCTCCACAGGTGGCTCAGATGCTCACTCAGGTGGGAGAAGCTCCAGTCAGCTAGTTCTGGAAGCCCAATGTCAAAGTCAGAAGGACC
TTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTCTCCCTTCTCCTGTCCTGTCAATGTTATCCAAAGCCCTCATATATTCAGTCAACAAACACCATTCATGGTGATAGCCGGGCTGCTGTTTGTGCAGGGCTGGCACTGAACACTGCCTTGATCTTATTTGGAGCAATATGCGCTTGTCTAATTTCACAGCAAGAAAACTGAGCTGAGGCTCAAAGAAGTCAAGCGCCCTGCTGGGGCGTCACACAGGGACGGGTGCAGAGTTGAGTTGGAAGCCCGCATCTATCTCGGGCCATGTTTGCAGCACCAAGCCTCTGTTTCCCTTGGAGCAGCTGTGCTGAGTCAGACCCAGGCTGGGCACTGAGGGAGAGCTGGGCAAGCCAGACCCCTCCTCTCTGGGGGCCCAAGCTCAGGGTGGGAAGTGGATTTTCCATTCTCCAGTCATTGGGTCTTCCCTGTGCTGGGCAATGGGCTCGGTCCCCTCTGGCATCCTCTGCCTCCCCTCTCAGCCCCTGTCCTCAGGTGCCCCTCCAGCCTCCCTGCCGCGTTCCAAGTCTCCTGGTGTTGAGAACCGCAAGCAGCCGCTCTGAAGCAGTTCCTTTTTGCTTTAGAATAATGTCTTGCATTTAACAGGAAAACAGATGGGGTGCTGCAGGGATAACAGATCCCACTTAACAGAGAGGAAAACTGAGGCAGGGAGAGGGGAAGAGACTCATTTAGGGATGTGGCCAGGCAGCAACAAGAGCCTAGGTCTCCTGGCTGTGATCCAGGAATATCTCTGCTGAGATGCAGGAGGAGACGCTAGAAGCAGCCATTGCAAAGCTGGGTGACGGGGAGAGCTTACCGCCAGCCACAAGCGTCTCTCTGCCAGCCTTGCCCTGTCTCCCCCATGTCCAGGCTGCTGCCTCGGTCCCATTCTCAGGGAATCTCTGGCCATTGTTGGGTGTTTGTTGCATTCAATAATCACAGATCACTCAGTTCTGGCCAGAAGGTGGGTGTGCCACTTACGGGTGGTTGTTCTCTGCAGGGTCAGTCCCAGTTTACAAATATTGTCCCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCAGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGGTGGGCCCAGGAACCTGCATTTCCAGCAAGCCCTCCACAGGTGGCTCAGATGCTCACTCAGGTGGGAGAAGCTCCAGTCAGCTAGTTCTGGAAGCCCAATGTCAAAGTCAGAAGGACC
Task1_train_7574
The following genetic variant occurs in RHO (rhodopsin) on Chromosome 3. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; not provided
TTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGGTGGGCCCAGGAACCTGCATTTCCAGCAAGCCCTCCACAGGTGGCTCAGATGCTCACTCAGGTGGGAGAAGCTCCAGTCAGCTAGTTCTGGAAGCCCAATGTCAAAGTCAGAAGGACCCAAGTCGGGAATGGGATGGGCCAGTCTCCATAAAGCTGAATAAGGAGCTAAAAAGTCTTATTCTGAGGGGTAAAGGGGTAAAGGGTTCCTCGGAGAGGTACCTCCGAGGGGTAAACAGTTGGGTAAACAGTCTCTGAAGTCAGCTCTGCCATTTTCTAGCTGTATGGCCCTGGGCAAGTCAATTTCCTTCTCTGTGCTTTGGTTTCCTCATCCATAGAAAGGTAGAAAGGGCAAAACACCAAACTCTTGGATTACAAGAGATAATTTACAGAACACCCTTGGCACACAGAGGGCACCATGAAATGTCACGGGTGACACAGCCCCCTTGTGCTCAGTCCCTGGCATCTCTAGGGGTGAGGAGCGTCTGCCTAGCAGGTTCCCTCCAGGAAGCTGGATTTGAGTGGATGGGGCGCTGGAATCGTGAGGGGCAGAAGCAGGCAAAGGGTCGGGGCGAACCTCACTAACGTGCCAGTTCCAAGCACACTGTGGGCAGCCCTGGCCCTGACTCAAGCCTCTTGCCTTCCAGTTCCGGAACTGCATGCTCACCACCATCTGCTGCGGCAAGAACCCACTGGGTGACGATGAGGCCTCTGCTACCGTGTCCAAGACGGAGACGAGCCAGGTGGCCCCGGCCTAAGACCTGCCTAGGACTCTGTGGCCGACTATAGGCGTCTCCCATCCCCTACACCTTCCCCCAGCCACAGCCATCCCACCAGGAGCAGCGCCTGTGCAGAATGAACGAAGTCACATAGGCTCCTTAATTTTTTTTTTTTTTTTAAGAAATAATTAATGAGGCTCCTCACTCACCTGGGACAGCCTGAGAAGGGACATCCACCAAGACCTACTGATCTGGAGTCCCACGTTCCCCAAGGCCAGCGGGATGTGTGCCCCTCCTCCTCCCAACTCATCTTTCAGGAACACGAGGATTCTTGCTTTCTGGAAAAGTGTCCCAGCTTAGGGATAAGTGTCTAGCACAGAATGGGGCACACAGTAGGTGCTTAATAAATGCTGGATGGATGCAGGAAGGAATGGAGGAATGAATGGGAAGGGAGAACATATCTATCCTCTCAGACCCTCGCAGCAGCAGCAACTCATACTTGGCTAATGATATGGAGCAGTTGTTTTTCCCTCCCTGGGCCTCACTTTCTTCTCCTATAAAATGGAAATCCCAGATCCCTGGTCCTGCCGACACGCAGCTACTGAGAAGACCAAAAGAGGTGTGTG
TTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCTCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGGTGGGCCCAGGAACCTGCATTTCCAGCAAGCCCTCCACAGGTGGCTCAGATGCTCACTCAGGTGGGAGAAGCTCCAGTCAGCTAGTTCTGGAAGCCCAATGTCAAAGTCAGAAGGACCCAAGTCGGGAATGGGATGGGCCAGTCTCCATAAAGCTGAATAAGGAGCTAAAAAGTCTTATTCTGAGGGGTAAAGGGGTAAAGGGTTCCTCGGAGAGGTACCTCCGAGGGGTAAACAGTTGGGTAAACAGTCTCTGAAGTCAGCTCTGCCATTTTCTAGCTGTATGGCCCTGGGCAAGTCAATTTCCTTCTCTGTGCTTTGGTTTCCTCATCCATAGAAAGGTAGAAAGGGCAAAACACCAAACTCTTGGATTACAAGAGATAATTTACAGAACACCCTTGGCACACAGAGGGCACCATGAAATGTCACGGGTGACACAGCCCCCTTGTGCTCAGTCCCTGGCATCTCTAGGGGTGAGGAGCGTCTGCCTAGCAGGTTCCCTCCAGGAAGCTGGATTTGAGTGGATGGGGCGCTGGAATCGTGAGGGGCAGAAGCAGGCAAAGGGTCGGGGCGAACCTCACTAACGTGCCAGTTCCAAGCACACTGTGGGCAGCCCTGGCCCTGACTCAAGCCTCTTGCCTTCCAGTTCCGGAACTGCATGCTCACCACCATCTGCTGCGGCAAGAACCCACTGGGTGACGATGAGGCCTCTGCTACCGTGTCCAAGACGGAGACGAGCCAGGTGGCCCCGGCCTAAGACCTGCCTAGGACTCTGTGGCCGACTATAGGCGTCTCCCATCCCCTACACCTTCCCCCAGCCACAGCCATCCCACCAGGAGCAGCGCCTGTGCAGAATGAACGAAGTCACATAGGCTCCTTAATTTTTTTTTTTTTTTTAAGAAATAATTAATGAGGCTCCTCACTCACCTGGGACAGCCTGAGAAGGGACATCCACCAAGACCTACTGATCTGGAGTCCCACGTTCCCCAAGGCCAGCGGGATGTGTGCCCCTCCTCCTCCCAACTCATCTTTCAGGAACACGAGGATTCTTGCTTTCTGGAAAAGTGTCCCAGCTTAGGGATAAGTGTCTAGCACAGAATGGGGCACACAGTAGGTGCTTAATAAATGCTGGATGGATGCAGGAAGGAATGGAGGAATGAATGGGAAGGGAGAACATATCTATCCTCTCAGACCCTCGCAGCAGCAGCAACTCATACTTGGCTAATGATATGGAGCAGTTGTTTTTCCCTCCCTGGGCCTCACTTTCTTCTCCTATAAAATGGAAATCCCAGATCCCTGGTCCTGCCGACACGCAGCTACTGAGAAGACCAAAAGAGGTGTGTG
Task1_train_7575
This sequence change occurs on Chromosome 3, altering RHO (rhodopsin). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Retinal dystrophy
TGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGGTGGGCCCAGGAACCTGCATTTCCAGCAAGCCCTCCACAGGTGGCTCAGATGCTCACTCAGGTGGGAGAAGCTCCAGTCAGCTAGTTCTGGAAGCCCAATGTCAAAGTCAGAAGGACCCAAGTCGGGAATGGGATGGGCCAGTCTCCATAAAGCTGAATAAGGAGCTAAAAAGTCTTATTCTGAGGGGTAAAGGGGTAAAGGGTTCCTCGGAGAGGTACCTCCGAGGGGTAAACAGTTGGGTAAACAGTCTCTGAAGTCAGCTCTGCCATTTTCTAGCTGTATGGCCCTGGGCAAGTCAATTTCCTTCTCTGTGCTTTGGTTTCCTCATCCATAGAAAGGTAGAAAGGGCAAAACACCAAACTCTTGGATTACAAGAGATAATTTACAGAACACCCTTGGCACACAGAGGGCACCATGAAATGTCACGGGTGACACAGCCCCCTTGTGCTCAGTCCCTGGCATCTCTAGGGGTGAGGAGCGTCTGCCTAGCAGGTTCCCTCCAGGAAGCTGGATTTGAGTGGATGGGGCGCTGGAATCGTGAGGGGCAGAAGCAGGCAAAGGGTCGGGGCGAACCTCACTAACGTGCCAGTTCCAAGCACACTGTGGGCAGCCCTGGCCCTGACTCAAGCCTCTTGCCTTCCAGTTCCGGAACTGCATGCTCACCACCATCTGCTGCGGCAAGAACCCACTGGGTGACGATGAGGCCTCTGCTACCGTGTCCAAGACGGAGACGAGCCAGGTGGCCCCGGCCTAAGACCTGCCTAGGACTCTGTGGCCGACTATAGGCGTCTCCCATCCCCTACACCTTCCCCCAGCCACAGCCATCCCACCAGGAGCAGCGCCTGTGCAGAATGAACGAAGTCACATAGGCTCCTTAATTTTTTTTTTTTTTTTAAGAAATAATTAATGAGGCTCCTCACTCACCTGGGACAGCCTGAGAAGGGACATCCACCAAGACCTACTGATCTGGAGTCCCACGTTCCCCAAGGCCAGCGGGATGTGTGCCCCTCCTCCTCCCAACTCATCTTTCAGGAACACGAGGATTCTTGCTTTCTGGAAAAGTGTCCCAGCTTAGGGATAAGTGTCTAGCACAGAATGGGGCACACAGTAGGTGCTTAATAAATGCTGGATGGATGCAGGAAGGAATGGAGGAATGAATGGGAAGGGAGAACATATCTATCCTCTCAGACCCTCGCAGCAGCAGCAACTCATACTTGGCTAATGATATGGAGCAGTTGTTTTTCCCTCCCTGGGCCTCACTTTCTTCTCCTATAAAATGGAAATCCCAGATCCCTGGTCCTGCCGACACGCAGCTACTGAGAAGACCAAAAGAGGTGTGTGTGTGTC
TGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGAGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGGTGGGCCCAGGAACCTGCATTTCCAGCAAGCCCTCCACAGGTGGCTCAGATGCTCACTCAGGTGGGAGAAGCTCCAGTCAGCTAGTTCTGGAAGCCCAATGTCAAAGTCAGAAGGACCCAAGTCGGGAATGGGATGGGCCAGTCTCCATAAAGCTGAATAAGGAGCTAAAAAGTCTTATTCTGAGGGGTAAAGGGGTAAAGGGTTCCTCGGAGAGGTACCTCCGAGGGGTAAACAGTTGGGTAAACAGTCTCTGAAGTCAGCTCTGCCATTTTCTAGCTGTATGGCCCTGGGCAAGTCAATTTCCTTCTCTGTGCTTTGGTTTCCTCATCCATAGAAAGGTAGAAAGGGCAAAACACCAAACTCTTGGATTACAAGAGATAATTTACAGAACACCCTTGGCACACAGAGGGCACCATGAAATGTCACGGGTGACACAGCCCCCTTGTGCTCAGTCCCTGGCATCTCTAGGGGTGAGGAGCGTCTGCCTAGCAGGTTCCCTCCAGGAAGCTGGATTTGAGTGGATGGGGCGCTGGAATCGTGAGGGGCAGAAGCAGGCAAAGGGTCGGGGCGAACCTCACTAACGTGCCAGTTCCAAGCACACTGTGGGCAGCCCTGGCCCTGACTCAAGCCTCTTGCCTTCCAGTTCCGGAACTGCATGCTCACCACCATCTGCTGCGGCAAGAACCCACTGGGTGACGATGAGGCCTCTGCTACCGTGTCCAAGACGGAGACGAGCCAGGTGGCCCCGGCCTAAGACCTGCCTAGGACTCTGTGGCCGACTATAGGCGTCTCCCATCCCCTACACCTTCCCCCAGCCACAGCCATCCCACCAGGAGCAGCGCCTGTGCAGAATGAACGAAGTCACATAGGCTCCTTAATTTTTTTTTTTTTTTTAAGAAATAATTAATGAGGCTCCTCACTCACCTGGGACAGCCTGAGAAGGGACATCCACCAAGACCTACTGATCTGGAGTCCCACGTTCCCCAAGGCCAGCGGGATGTGTGCCCCTCCTCCTCCCAACTCATCTTTCAGGAACACGAGGATTCTTGCTTTCTGGAAAAGTGTCCCAGCTTAGGGATAAGTGTCTAGCACAGAATGGGGCACACAGTAGGTGCTTAATAAATGCTGGATGGATGCAGGAAGGAATGGAGGAATGAATGGGAAGGGAGAACATATCTATCCTCTCAGACCCTCGCAGCAGCAGCAACTCATACTTGGCTAATGATATGGAGCAGTTGTTTTTCCCTCCCTGGGCCTCACTTTCTTCTCCTATAAAATGGAAATCCCAGATCCCTGGTCCTGCCGACACGCAGCTACTGAGAAGACCAAAAGAGGTGTGTGTGTGTC
Task1_train_7576
Gene RHO (rhodopsin), found on Chromosome 3, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; not provided
GTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGGTGGGCCCAGGAACCTGCATTTCCAGCAAGCCCTCCACAGGTGGCTCAGATGCTCACTCAGGTGGGAGAAGCTCCAGTCAGCTAGTTCTGGAAGCCCAATGTCAAAGTCAGAAGGACCCAAGTCGGGAATGGGATGGGCCAGTCTCCATAAAGCTGAATAAGGAGCTAAAAAGTCTTATTCTGAGGGGTAAAGGGGTAAAGGGTTCCTCGGAGAGGTACCTCCGAGGGGTAAACAGTTGGGTAAACAGTCTCTGAAGTCAGCTCTGCCATTTTCTAGCTGTATGGCCCTGGGCAAGTCAATTTCCTTCTCTGTGCTTTGGTTTCCTCATCCATAGAAAGGTAGAAAGGGCAAAACACCAAACTCTTGGATTACAAGAGATAATTTACAGAACACCCTTGGCACACAGAGGGCACCATGAAATGTCACGGGTGACACAGCCCCCTTGTGCTCAGTCCCTGGCATCTCTAGGGGTGAGGAGCGTCTGCCTAGCAGGTTCCCTCCAGGAAGCTGGATTTGAGTGGATGGGGCGCTGGAATCGTGAGGGGCAGAAGCAGGCAAAGGGTCGGGGCGAACCTCACTAACGTGCCAGTTCCAAGCACACTGTGGGCAGCCCTGGCCCTGACTCAAGCCTCTTGCCTTCCAGTTCCGGAACTGCATGCTCACCACCATCTGCTGCGGCAAGAACCCACTGGGTGACGATGAGGCCTCTGCTACCGTGTCCAAGACGGAGACGAGCCAGGTGGCCCCGGCCTAAGACCTGCCTAGGACTCTGTGGCCGACTATAGGCGTCTCCCATCCCCTACACCTTCCCCCAGCCACAGCCATCCCACCAGGAGCAGCGCCTGTGCAGAATGAACGAAGTCACATAGGCTCCTTAATTTTTTTTTTTTTTTTAAGAAATAATTAATGAGGCTCCTCACTCACCTGGGACAGCCTGAGAAGGGACATCCACCAAGACCTACTGATCTGGAGTCCCACGTTCCCCAAGGCCAGCGGGATGTGTGCCCCTCCTCCTCCCAACTCATCTTTCAGGAACACGAGGATTCTTGCTTTCTGGAAAAGTGTCCCAGCTTAGGGATAAGTGTCTAGCACAGAATGGGGCACACAGTAGGTGCTTAATAAATGCTGGATGGATGCAGGAAGGAATGGAGGAATGAATGGGAAGGGAGAACATATCTATCCTCTCAGACCCTCGCAGCAGCAGCAACTCATACTTGGCTAATGATATGGAGCAGTTGTTTTTCCCTCCCTGGGCCTCACTTTCTTCTCCTATAAAATGGAAATCCCAGATCCCTGGTCCTGCCGACACGCAGCTACTGAGAAGACCAAAAGAGGTGTGTGTGTGTCT
GTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGACCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGGTGGGCCCAGGAACCTGCATTTCCAGCAAGCCCTCCACAGGTGGCTCAGATGCTCACTCAGGTGGGAGAAGCTCCAGTCAGCTAGTTCTGGAAGCCCAATGTCAAAGTCAGAAGGACCCAAGTCGGGAATGGGATGGGCCAGTCTCCATAAAGCTGAATAAGGAGCTAAAAAGTCTTATTCTGAGGGGTAAAGGGGTAAAGGGTTCCTCGGAGAGGTACCTCCGAGGGGTAAACAGTTGGGTAAACAGTCTCTGAAGTCAGCTCTGCCATTTTCTAGCTGTATGGCCCTGGGCAAGTCAATTTCCTTCTCTGTGCTTTGGTTTCCTCATCCATAGAAAGGTAGAAAGGGCAAAACACCAAACTCTTGGATTACAAGAGATAATTTACAGAACACCCTTGGCACACAGAGGGCACCATGAAATGTCACGGGTGACACAGCCCCCTTGTGCTCAGTCCCTGGCATCTCTAGGGGTGAGGAGCGTCTGCCTAGCAGGTTCCCTCCAGGAAGCTGGATTTGAGTGGATGGGGCGCTGGAATCGTGAGGGGCAGAAGCAGGCAAAGGGTCGGGGCGAACCTCACTAACGTGCCAGTTCCAAGCACACTGTGGGCAGCCCTGGCCCTGACTCAAGCCTCTTGCCTTCCAGTTCCGGAACTGCATGCTCACCACCATCTGCTGCGGCAAGAACCCACTGGGTGACGATGAGGCCTCTGCTACCGTGTCCAAGACGGAGACGAGCCAGGTGGCCCCGGCCTAAGACCTGCCTAGGACTCTGTGGCCGACTATAGGCGTCTCCCATCCCCTACACCTTCCCCCAGCCACAGCCATCCCACCAGGAGCAGCGCCTGTGCAGAATGAACGAAGTCACATAGGCTCCTTAATTTTTTTTTTTTTTTTAAGAAATAATTAATGAGGCTCCTCACTCACCTGGGACAGCCTGAGAAGGGACATCCACCAAGACCTACTGATCTGGAGTCCCACGTTCCCCAAGGCCAGCGGGATGTGTGCCCCTCCTCCTCCCAACTCATCTTTCAGGAACACGAGGATTCTTGCTTTCTGGAAAAGTGTCCCAGCTTAGGGATAAGTGTCTAGCACAGAATGGGGCACACAGTAGGTGCTTAATAAATGCTGGATGGATGCAGGAAGGAATGGAGGAATGAATGGGAAGGGAGAACATATCTATCCTCTCAGACCCTCGCAGCAGCAGCAACTCATACTTGGCTAATGATATGGAGCAGTTGTTTTTCCCTCCCTGGGCCTCACTTTCTTCTCCTATAAAATGGAAATCCCAGATCCCTGGTCCTGCCGACACGCAGCTACTGAGAAGACCAAAAGAGGTGTGTGTGTGTCT
Task1_train_7577
A change on Chromosome 3 affects gene RHO (rhodopsin). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; not provided
GTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGGTGGGCCCAGGAACCTGCATTTCCAGCAAGCCCTCCACAGGTGGCTCAGATGCTCACTCAGGTGGGAGAAGCTCCAGTCAGCTAGTTCTGGAAGCCCAATGTCAAAGTCAGAAGGACCCAAGTCGGGAATGGGATGGGCCAGTCTCCATAAAGCTGAATAAGGAGCTAAAAAGTCTTATTCTGAGGGGTAAAGGGGTAAAGGGTTCCTCGGAGAGGTACCTCCGAGGGGTAAACAGTTGGGTAAACAGTCTCTGAAGTCAGCTCTGCCATTTTCTAGCTGTATGGCCCTGGGCAAGTCAATTTCCTTCTCTGTGCTTTGGTTTCCTCATCCATAGAAAGGTAGAAAGGGCAAAACACCAAACTCTTGGATTACAAGAGATAATTTACAGAACACCCTTGGCACACAGAGGGCACCATGAAATGTCACGGGTGACACAGCCCCCTTGTGCTCAGTCCCTGGCATCTCTAGGGGTGAGGAGCGTCTGCCTAGCAGGTTCCCTCCAGGAAGCTGGATTTGAGTGGATGGGGCGCTGGAATCGTGAGGGGCAGAAGCAGGCAAAGGGTCGGGGCGAACCTCACTAACGTGCCAGTTCCAAGCACACTGTGGGCAGCCCTGGCCCTGACTCAAGCCTCTTGCCTTCCAGTTCCGGAACTGCATGCTCACCACCATCTGCTGCGGCAAGAACCCACTGGGTGACGATGAGGCCTCTGCTACCGTGTCCAAGACGGAGACGAGCCAGGTGGCCCCGGCCTAAGACCTGCCTAGGACTCTGTGGCCGACTATAGGCGTCTCCCATCCCCTACACCTTCCCCCAGCCACAGCCATCCCACCAGGAGCAGCGCCTGTGCAGAATGAACGAAGTCACATAGGCTCCTTAATTTTTTTTTTTTTTTTAAGAAATAATTAATGAGGCTCCTCACTCACCTGGGACAGCCTGAGAAGGGACATCCACCAAGACCTACTGATCTGGAGTCCCACGTTCCCCAAGGCCAGCGGGATGTGTGCCCCTCCTCCTCCCAACTCATCTTTCAGGAACACGAGGATTCTTGCTTTCTGGAAAAGTGTCCCAGCTTAGGGATAAGTGTCTAGCACAGAATGGGGCACACAGTAGGTGCTTAATAAATGCTGGATGGATGCAGGAAGGAATGGAGGAATGAATGGGAAGGGAGAACATATCTATCCTCTCAGACCCTCGCAGCAGCAGCAACTCATACTTGGCTAATGATATGGAGCAGTTGTTTTTCCCTCCCTGGGCCTCACTTTCTTCTCCTATAAAATGGAAATCCCAGATCCCTGGTCCTGCCGACACGCAGCTACTGAGAAGACCAAAAGAGGTGTGTGTGTGTCT
GTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGTCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGGTGGGCCCAGGAACCTGCATTTCCAGCAAGCCCTCCACAGGTGGCTCAGATGCTCACTCAGGTGGGAGAAGCTCCAGTCAGCTAGTTCTGGAAGCCCAATGTCAAAGTCAGAAGGACCCAAGTCGGGAATGGGATGGGCCAGTCTCCATAAAGCTGAATAAGGAGCTAAAAAGTCTTATTCTGAGGGGTAAAGGGGTAAAGGGTTCCTCGGAGAGGTACCTCCGAGGGGTAAACAGTTGGGTAAACAGTCTCTGAAGTCAGCTCTGCCATTTTCTAGCTGTATGGCCCTGGGCAAGTCAATTTCCTTCTCTGTGCTTTGGTTTCCTCATCCATAGAAAGGTAGAAAGGGCAAAACACCAAACTCTTGGATTACAAGAGATAATTTACAGAACACCCTTGGCACACAGAGGGCACCATGAAATGTCACGGGTGACACAGCCCCCTTGTGCTCAGTCCCTGGCATCTCTAGGGGTGAGGAGCGTCTGCCTAGCAGGTTCCCTCCAGGAAGCTGGATTTGAGTGGATGGGGCGCTGGAATCGTGAGGGGCAGAAGCAGGCAAAGGGTCGGGGCGAACCTCACTAACGTGCCAGTTCCAAGCACACTGTGGGCAGCCCTGGCCCTGACTCAAGCCTCTTGCCTTCCAGTTCCGGAACTGCATGCTCACCACCATCTGCTGCGGCAAGAACCCACTGGGTGACGATGAGGCCTCTGCTACCGTGTCCAAGACGGAGACGAGCCAGGTGGCCCCGGCCTAAGACCTGCCTAGGACTCTGTGGCCGACTATAGGCGTCTCCCATCCCCTACACCTTCCCCCAGCCACAGCCATCCCACCAGGAGCAGCGCCTGTGCAGAATGAACGAAGTCACATAGGCTCCTTAATTTTTTTTTTTTTTTTAAGAAATAATTAATGAGGCTCCTCACTCACCTGGGACAGCCTGAGAAGGGACATCCACCAAGACCTACTGATCTGGAGTCCCACGTTCCCCAAGGCCAGCGGGATGTGTGCCCCTCCTCCTCCCAACTCATCTTTCAGGAACACGAGGATTCTTGCTTTCTGGAAAAGTGTCCCAGCTTAGGGATAAGTGTCTAGCACAGAATGGGGCACACAGTAGGTGCTTAATAAATGCTGGATGGATGCAGGAAGGAATGGAGGAATGAATGGGAAGGGAGAACATATCTATCCTCTCAGACCCTCGCAGCAGCAGCAACTCATACTTGGCTAATGATATGGAGCAGTTGTTTTTCCCTCCCTGGGCCTCACTTTCTTCTCCTATAAAATGGAAATCCCAGATCCCTGGTCCTGCCGACACGCAGCTACTGAGAAGACCAAAAGAGGTGTGTGTGTGTCT
Task1_train_7578
Given a variant located on Chromosome 3 and affecting RHO (rhodopsin), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Retinitis pigmentosa 4
CCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGGTGGGCCCAGGAACCTGCATTTCCAGCAAGCCCTCCACAGGTGGCTCAGATGCTCACTCAGGTGGGAGAAGCTCCAGTCAGCTAGTTCTGGAAGCCCAATGTCAAAGTCAGAAGGACCCAAGTCGGGAATGGGATGGGCCAGTCTCCATAAAGCTGAATAAGGAGCTAAAAAGTCTTATTCTGAGGGGTAAAGGGGTAAAGGGTTCCTCGGAGAGGTACCTCCGAGGGGTAAACAGTTGGGTAAACAGTCTCTGAAGTCAGCTCTGCCATTTTCTAGCTGTATGGCCCTGGGCAAGTCAATTTCCTTCTCTGTGCTTTGGTTTCCTCATCCATAGAAAGGTAGAAAGGGCAAAACACCAAACTCTTGGATTACAAGAGATAATTTACAGAACACCCTTGGCACACAGAGGGCACCATGAAATGTCACGGGTGACACAGCCCCCTTGTGCTCAGTCCCTGGCATCTCTAGGGGTGAGGAGCGTCTGCCTAGCAGGTTCCCTCCAGGAAGCTGGATTTGAGTGGATGGGGCGCTGGAATCGTGAGGGGCAGAAGCAGGCAAAGGGTCGGGGCGAACCTCACTAACGTGCCAGTTCCAAGCACACTGTGGGCAGCCCTGGCCCTGACTCAAGCCTCTTGCCTTCCAGTTCCGGAACTGCATGCTCACCACCATCTGCTGCGGCAAGAACCCACTGGGTGACGATGAGGCCTCTGCTACCGTGTCCAAGACGGAGACGAGCCAGGTGGCCCCGGCCTAAGACCTGCCTAGGACTCTGTGGCCGACTATAGGCGTCTCCCATCCCCTACACCTTCCCCCAGCCACAGCCATCCCACCAGGAGCAGCGCCTGTGCAGAATGAACGAAGTCACATAGGCTCCTTAATTTTTTTTTTTTTTTTAAGAAATAATTAATGAGGCTCCTCACTCACCTGGGACAGCCTGAGAAGGGACATCCACCAAGACCTACTGATCTGGAGTCCCACGTTCCCCAAGGCCAGCGGGATGTGTGCCCCTCCTCCTCCCAACTCATCTTTCAGGAACACGAGGATTCTTGCTTTCTGGAAAAGTGTCCCAGCTTAGGGATAAGTGTCTAGCACAGAATGGGGCACACAGTAGGTGCTTAATAAATGCTGGATGGATGCAGGAAGGAATGGAGGAATGAATGGGAAGGGAGAACATATCTATCCTCTCAGACCCTCGCAGCAGCAGCAACTCATACTTGGCTAATGATATGGAGCAGTTGTTTTTCCCTCCCTGGGCCTCACTTTCTTCTCCTATAAAATGGAAATCCCAGATCCCTGGTCCTGCCGACACGCAGCTACTGAGAAGACCAAAAGAGGTGTGTGTGTGTCTATGTGTGTGTTT
CCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTGGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGGTGGGCCCAGGAACCTGCATTTCCAGCAAGCCCTCCACAGGTGGCTCAGATGCTCACTCAGGTGGGAGAAGCTCCAGTCAGCTAGTTCTGGAAGCCCAATGTCAAAGTCAGAAGGACCCAAGTCGGGAATGGGATGGGCCAGTCTCCATAAAGCTGAATAAGGAGCTAAAAAGTCTTATTCTGAGGGGTAAAGGGGTAAAGGGTTCCTCGGAGAGGTACCTCCGAGGGGTAAACAGTTGGGTAAACAGTCTCTGAAGTCAGCTCTGCCATTTTCTAGCTGTATGGCCCTGGGCAAGTCAATTTCCTTCTCTGTGCTTTGGTTTCCTCATCCATAGAAAGGTAGAAAGGGCAAAACACCAAACTCTTGGATTACAAGAGATAATTTACAGAACACCCTTGGCACACAGAGGGCACCATGAAATGTCACGGGTGACACAGCCCCCTTGTGCTCAGTCCCTGGCATCTCTAGGGGTGAGGAGCGTCTGCCTAGCAGGTTCCCTCCAGGAAGCTGGATTTGAGTGGATGGGGCGCTGGAATCGTGAGGGGCAGAAGCAGGCAAAGGGTCGGGGCGAACCTCACTAACGTGCCAGTTCCAAGCACACTGTGGGCAGCCCTGGCCCTGACTCAAGCCTCTTGCCTTCCAGTTCCGGAACTGCATGCTCACCACCATCTGCTGCGGCAAGAACCCACTGGGTGACGATGAGGCCTCTGCTACCGTGTCCAAGACGGAGACGAGCCAGGTGGCCCCGGCCTAAGACCTGCCTAGGACTCTGTGGCCGACTATAGGCGTCTCCCATCCCCTACACCTTCCCCCAGCCACAGCCATCCCACCAGGAGCAGCGCCTGTGCAGAATGAACGAAGTCACATAGGCTCCTTAATTTTTTTTTTTTTTTTAAGAAATAATTAATGAGGCTCCTCACTCACCTGGGACAGCCTGAGAAGGGACATCCACCAAGACCTACTGATCTGGAGTCCCACGTTCCCCAAGGCCAGCGGGATGTGTGCCCCTCCTCCTCCCAACTCATCTTTCAGGAACACGAGGATTCTTGCTTTCTGGAAAAGTGTCCCAGCTTAGGGATAAGTGTCTAGCACAGAATGGGGCACACAGTAGGTGCTTAATAAATGCTGGATGGATGCAGGAAGGAATGGAGGAATGAATGGGAAGGGAGAACATATCTATCCTCTCAGACCCTCGCAGCAGCAGCAACTCATACTTGGCTAATGATATGGAGCAGTTGTTTTTCCCTCCCTGGGCCTCACTTTCTTCTCCTATAAAATGGAAATCCCAGATCCCTGGTCCTGCCGACACGCAGCTACTGAGAAGACCAAAAGAGGTGTGTGTGTGTCTATGTGTGTGTTT
Task1_train_7579
Given a variant located on Chromosome 3 and affecting RHO (rhodopsin), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Retinal dystrophy
TTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGGTGGGCCCAGGAACCTGCATTTCCAGCAAGCCCTCCACAGGTGGCTCAGATGCTCACTCAGGTGGGAGAAGCTCCAGTCAGCTAGTTCTGGAAGCCCAATGTCAAAGTCAGAAGGACCCAAGTCGGGAATGGGATGGGCCAGTCTCCATAAAGCTGAATAAGGAGCTAAAAAGTCTTATTCTGAGGGGTAAAGGGGTAAAGGGTTCCTCGGAGAGGTACCTCCGAGGGGTAAACAGTTGGGTAAACAGTCTCTGAAGTCAGCTCTGCCATTTTCTAGCTGTATGGCCCTGGGCAAGTCAATTTCCTTCTCTGTGCTTTGGTTTCCTCATCCATAGAAAGGTAGAAAGGGCAAAACACCAAACTCTTGGATTACAAGAGATAATTTACAGAACACCCTTGGCACACAGAGGGCACCATGAAATGTCACGGGTGACACAGCCCCCTTGTGCTCAGTCCCTGGCATCTCTAGGGGTGAGGAGCGTCTGCCTAGCAGGTTCCCTCCAGGAAGCTGGATTTGAGTGGATGGGGCGCTGGAATCGTGAGGGGCAGAAGCAGGCAAAGGGTCGGGGCGAACCTCACTAACGTGCCAGTTCCAAGCACACTGTGGGCAGCCCTGGCCCTGACTCAAGCCTCTTGCCTTCCAGTTCCGGAACTGCATGCTCACCACCATCTGCTGCGGCAAGAACCCACTGGGTGACGATGAGGCCTCTGCTACCGTGTCCAAGACGGAGACGAGCCAGGTGGCCCCGGCCTAAGACCTGCCTAGGACTCTGTGGCCGACTATAGGCGTCTCCCATCCCCTACACCTTCCCCCAGCCACAGCCATCCCACCAGGAGCAGCGCCTGTGCAGAATGAACGAAGTCACATAGGCTCCTTAATTTTTTTTTTTTTTTTAAGAAATAATTAATGAGGCTCCTCACTCACCTGGGACAGCCTGAGAAGGGACATCCACCAAGACCTACTGATCTGGAGTCCCACGTTCCCCAAGGCCAGCGGGATGTGTGCCCCTCCTCCTCCCAACTCATCTTTCAGGAACACGAGGATTCTTGCTTTCTGGAAAAGTGTCCCAGCTTAGGGATAAGTGTCTAGCACAGAATGGGGCACACAGTAGGTGCTTAATAAATGCTGGATGGATGCAGGAAGGAATGGAGGAATGAATGGGAAGGGAGAACATATCTATCCTCTCAGACCCTCGCAGCAGCAGCAACTCATACTTGGCTAATGATATGGAGCAGTTGTTTTTCCCTCCCTGGGCCTCACTTTCTTCTCCTATAAAATGGAAATCCCAGATCCCTGGTCCTGCCGACACGCAGCTACTGAGAAGACCAAAAGAGGTGTGTGTGTGTCTATGTGTGTGTTTCAGCA
TTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTAGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGGTGGGCCCAGGAACCTGCATTTCCAGCAAGCCCTCCACAGGTGGCTCAGATGCTCACTCAGGTGGGAGAAGCTCCAGTCAGCTAGTTCTGGAAGCCCAATGTCAAAGTCAGAAGGACCCAAGTCGGGAATGGGATGGGCCAGTCTCCATAAAGCTGAATAAGGAGCTAAAAAGTCTTATTCTGAGGGGTAAAGGGGTAAAGGGTTCCTCGGAGAGGTACCTCCGAGGGGTAAACAGTTGGGTAAACAGTCTCTGAAGTCAGCTCTGCCATTTTCTAGCTGTATGGCCCTGGGCAAGTCAATTTCCTTCTCTGTGCTTTGGTTTCCTCATCCATAGAAAGGTAGAAAGGGCAAAACACCAAACTCTTGGATTACAAGAGATAATTTACAGAACACCCTTGGCACACAGAGGGCACCATGAAATGTCACGGGTGACACAGCCCCCTTGTGCTCAGTCCCTGGCATCTCTAGGGGTGAGGAGCGTCTGCCTAGCAGGTTCCCTCCAGGAAGCTGGATTTGAGTGGATGGGGCGCTGGAATCGTGAGGGGCAGAAGCAGGCAAAGGGTCGGGGCGAACCTCACTAACGTGCCAGTTCCAAGCACACTGTGGGCAGCCCTGGCCCTGACTCAAGCCTCTTGCCTTCCAGTTCCGGAACTGCATGCTCACCACCATCTGCTGCGGCAAGAACCCACTGGGTGACGATGAGGCCTCTGCTACCGTGTCCAAGACGGAGACGAGCCAGGTGGCCCCGGCCTAAGACCTGCCTAGGACTCTGTGGCCGACTATAGGCGTCTCCCATCCCCTACACCTTCCCCCAGCCACAGCCATCCCACCAGGAGCAGCGCCTGTGCAGAATGAACGAAGTCACATAGGCTCCTTAATTTTTTTTTTTTTTTTAAGAAATAATTAATGAGGCTCCTCACTCACCTGGGACAGCCTGAGAAGGGACATCCACCAAGACCTACTGATCTGGAGTCCCACGTTCCCCAAGGCCAGCGGGATGTGTGCCCCTCCTCCTCCCAACTCATCTTTCAGGAACACGAGGATTCTTGCTTTCTGGAAAAGTGTCCCAGCTTAGGGATAAGTGTCTAGCACAGAATGGGGCACACAGTAGGTGCTTAATAAATGCTGGATGGATGCAGGAAGGAATGGAGGAATGAATGGGAAGGGAGAACATATCTATCCTCTCAGACCCTCGCAGCAGCAGCAACTCATACTTGGCTAATGATATGGAGCAGTTGTTTTTCCCTCCCTGGGCCTCACTTTCTTCTCCTATAAAATGGAAATCCCAGATCCCTGGTCCTGCCGACACGCAGCTACTGAGAAGACCAAAAGAGGTGTGTGTGTGTCTATGTGTGTGTTTCAGCA
Task1_train_7580
This sequence change occurs on Chromosome 3, altering RHO (rhodopsin). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Retinitis pigmentosa 4
GATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGGTGGGCCCAGGAACCTGCATTTCCAGCAAGCCCTCCACAGGTGGCTCAGATGCTCACTCAGGTGGGAGAAGCTCCAGTCAGCTAGTTCTGGAAGCCCAATGTCAAAGTCAGAAGGACCCAAGTCGGGAATGGGATGGGCCAGTCTCCATAAAGCTGAATAAGGAGCTAAAAAGTCTTATTCTGAGGGGTAAAGGGGTAAAGGGTTCCTCGGAGAGGTACCTCCGAGGGGTAAACAGTTGGGTAAACAGTCTCTGAAGTCAGCTCTGCCATTTTCTAGCTGTATGGCCCTGGGCAAGTCAATTTCCTTCTCTGTGCTTTGGTTTCCTCATCCATAGAAAGGTAGAAAGGGCAAAACACCAAACTCTTGGATTACAAGAGATAATTTACAGAACACCCTTGGCACACAGAGGGCACCATGAAATGTCACGGGTGACACAGCCCCCTTGTGCTCAGTCCCTGGCATCTCTAGGGGTGAGGAGCGTCTGCCTAGCAGGTTCCCTCCAGGAAGCTGGATTTGAGTGGATGGGGCGCTGGAATCGTGAGGGGCAGAAGCAGGCAAAGGGTCGGGGCGAACCTCACTAACGTGCCAGTTCCAAGCACACTGTGGGCAGCCCTGGCCCTGACTCAAGCCTCTTGCCTTCCAGTTCCGGAACTGCATGCTCACCACCATCTGCTGCGGCAAGAACCCACTGGGTGACGATGAGGCCTCTGCTACCGTGTCCAAGACGGAGACGAGCCAGGTGGCCCCGGCCTAAGACCTGCCTAGGACTCTGTGGCCGACTATAGGCGTCTCCCATCCCCTACACCTTCCCCCAGCCACAGCCATCCCACCAGGAGCAGCGCCTGTGCAGAATGAACGAAGTCACATAGGCTCCTTAATTTTTTTTTTTTTTTTAAGAAATAATTAATGAGGCTCCTCACTCACCTGGGACAGCCTGAGAAGGGACATCCACCAAGACCTACTGATCTGGAGTCCCACGTTCCCCAAGGCCAGCGGGATGTGTGCCCCTCCTCCTCCCAACTCATCTTTCAGGAACACGAGGATTCTTGCTTTCTGGAAAAGTGTCCCAGCTTAGGGATAAGTGTCTAGCACAGAATGGGGCACACAGTAGGTGCTTAATAAATGCTGGATGGATGCAGGAAGGAATGGAGGAATGAATGGGAAGGGAGAACATATCTATCCTCTCAGACCCTCGCAGCAGCAGCAACTCATACTTGGCTAATGATATGGAGCAGTTGTTTTTCCCTCCCTGGGCCTCACTTTCTTCTCCTATAAAATGGAAATCCCAGATCCCTGGTCCTGCCGACACGCAGCTACTGAGAAGACCAAAAGAGGTGTGTGTGTGTCTATGTGTGTGTTTCAGCACTTTGT
GATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCAACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGGTGGGCCCAGGAACCTGCATTTCCAGCAAGCCCTCCACAGGTGGCTCAGATGCTCACTCAGGTGGGAGAAGCTCCAGTCAGCTAGTTCTGGAAGCCCAATGTCAAAGTCAGAAGGACCCAAGTCGGGAATGGGATGGGCCAGTCTCCATAAAGCTGAATAAGGAGCTAAAAAGTCTTATTCTGAGGGGTAAAGGGGTAAAGGGTTCCTCGGAGAGGTACCTCCGAGGGGTAAACAGTTGGGTAAACAGTCTCTGAAGTCAGCTCTGCCATTTTCTAGCTGTATGGCCCTGGGCAAGTCAATTTCCTTCTCTGTGCTTTGGTTTCCTCATCCATAGAAAGGTAGAAAGGGCAAAACACCAAACTCTTGGATTACAAGAGATAATTTACAGAACACCCTTGGCACACAGAGGGCACCATGAAATGTCACGGGTGACACAGCCCCCTTGTGCTCAGTCCCTGGCATCTCTAGGGGTGAGGAGCGTCTGCCTAGCAGGTTCCCTCCAGGAAGCTGGATTTGAGTGGATGGGGCGCTGGAATCGTGAGGGGCAGAAGCAGGCAAAGGGTCGGGGCGAACCTCACTAACGTGCCAGTTCCAAGCACACTGTGGGCAGCCCTGGCCCTGACTCAAGCCTCTTGCCTTCCAGTTCCGGAACTGCATGCTCACCACCATCTGCTGCGGCAAGAACCCACTGGGTGACGATGAGGCCTCTGCTACCGTGTCCAAGACGGAGACGAGCCAGGTGGCCCCGGCCTAAGACCTGCCTAGGACTCTGTGGCCGACTATAGGCGTCTCCCATCCCCTACACCTTCCCCCAGCCACAGCCATCCCACCAGGAGCAGCGCCTGTGCAGAATGAACGAAGTCACATAGGCTCCTTAATTTTTTTTTTTTTTTTAAGAAATAATTAATGAGGCTCCTCACTCACCTGGGACAGCCTGAGAAGGGACATCCACCAAGACCTACTGATCTGGAGTCCCACGTTCCCCAAGGCCAGCGGGATGTGTGCCCCTCCTCCTCCCAACTCATCTTTCAGGAACACGAGGATTCTTGCTTTCTGGAAAAGTGTCCCAGCTTAGGGATAAGTGTCTAGCACAGAATGGGGCACACAGTAGGTGCTTAATAAATGCTGGATGGATGCAGGAAGGAATGGAGGAATGAATGGGAAGGGAGAACATATCTATCCTCTCAGACCCTCGCAGCAGCAGCAACTCATACTTGGCTAATGATATGGAGCAGTTGTTTTTCCCTCCCTGGGCCTCACTTTCTTCTCCTATAAAATGGAAATCCCAGATCCCTGGTCCTGCCGACACGCAGCTACTGAGAAGACCAAAAGAGGTGTGTGTGTGTCTATGTGTGTGTTTCAGCACTTTGT
Task1_train_7581
This variant affects the gene RHO (rhodopsin) found on Chromosome 3. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Retinal dystrophy
GATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGGTGGGCCCAGGAACCTGCATTTCCAGCAAGCCCTCCACAGGTGGCTCAGATGCTCACTCAGGTGGGAGAAGCTCCAGTCAGCTAGTTCTGGAAGCCCAATGTCAAAGTCAGAAGGACCCAAGTCGGGAATGGGATGGGCCAGTCTCCATAAAGCTGAATAAGGAGCTAAAAAGTCTTATTCTGAGGGGTAAAGGGGTAAAGGGTTCCTCGGAGAGGTACCTCCGAGGGGTAAACAGTTGGGTAAACAGTCTCTGAAGTCAGCTCTGCCATTTTCTAGCTGTATGGCCCTGGGCAAGTCAATTTCCTTCTCTGTGCTTTGGTTTCCTCATCCATAGAAAGGTAGAAAGGGCAAAACACCAAACTCTTGGATTACAAGAGATAATTTACAGAACACCCTTGGCACACAGAGGGCACCATGAAATGTCACGGGTGACACAGCCCCCTTGTGCTCAGTCCCTGGCATCTCTAGGGGTGAGGAGCGTCTGCCTAGCAGGTTCCCTCCAGGAAGCTGGATTTGAGTGGATGGGGCGCTGGAATCGTGAGGGGCAGAAGCAGGCAAAGGGTCGGGGCGAACCTCACTAACGTGCCAGTTCCAAGCACACTGTGGGCAGCCCTGGCCCTGACTCAAGCCTCTTGCCTTCCAGTTCCGGAACTGCATGCTCACCACCATCTGCTGCGGCAAGAACCCACTGGGTGACGATGAGGCCTCTGCTACCGTGTCCAAGACGGAGACGAGCCAGGTGGCCCCGGCCTAAGACCTGCCTAGGACTCTGTGGCCGACTATAGGCGTCTCCCATCCCCTACACCTTCCCCCAGCCACAGCCATCCCACCAGGAGCAGCGCCTGTGCAGAATGAACGAAGTCACATAGGCTCCTTAATTTTTTTTTTTTTTTTAAGAAATAATTAATGAGGCTCCTCACTCACCTGGGACAGCCTGAGAAGGGACATCCACCAAGACCTACTGATCTGGAGTCCCACGTTCCCCAAGGCCAGCGGGATGTGTGCCCCTCCTCCTCCCAACTCATCTTTCAGGAACACGAGGATTCTTGCTTTCTGGAAAAGTGTCCCAGCTTAGGGATAAGTGTCTAGCACAGAATGGGGCACACAGTAGGTGCTTAATAAATGCTGGATGGATGCAGGAAGGAATGGAGGAATGAATGGGAAGGGAGAACATATCTATCCTCTCAGACCCTCGCAGCAGCAGCAACTCATACTTGGCTAATGATATGGAGCAGTTGTTTTTCCCTCCCTGGGCCTCACTTTCTTCTCCTATAAAATGGAAATCCCAGATCCCTGGTCCTGCCGACACGCAGCTACTGAGAAGACCAAAAGAGGTGTGTGTGTGTCTATGTGTGTGTTTCAGCACTTTGT
GATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCAACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGGTGGGCCCAGGAACCTGCATTTCCAGCAAGCCCTCCACAGGTGGCTCAGATGCTCACTCAGGTGGGAGAAGCTCCAGTCAGCTAGTTCTGGAAGCCCAATGTCAAAGTCAGAAGGACCCAAGTCGGGAATGGGATGGGCCAGTCTCCATAAAGCTGAATAAGGAGCTAAAAAGTCTTATTCTGAGGGGTAAAGGGGTAAAGGGTTCCTCGGAGAGGTACCTCCGAGGGGTAAACAGTTGGGTAAACAGTCTCTGAAGTCAGCTCTGCCATTTTCTAGCTGTATGGCCCTGGGCAAGTCAATTTCCTTCTCTGTGCTTTGGTTTCCTCATCCATAGAAAGGTAGAAAGGGCAAAACACCAAACTCTTGGATTACAAGAGATAATTTACAGAACACCCTTGGCACACAGAGGGCACCATGAAATGTCACGGGTGACACAGCCCCCTTGTGCTCAGTCCCTGGCATCTCTAGGGGTGAGGAGCGTCTGCCTAGCAGGTTCCCTCCAGGAAGCTGGATTTGAGTGGATGGGGCGCTGGAATCGTGAGGGGCAGAAGCAGGCAAAGGGTCGGGGCGAACCTCACTAACGTGCCAGTTCCAAGCACACTGTGGGCAGCCCTGGCCCTGACTCAAGCCTCTTGCCTTCCAGTTCCGGAACTGCATGCTCACCACCATCTGCTGCGGCAAGAACCCACTGGGTGACGATGAGGCCTCTGCTACCGTGTCCAAGACGGAGACGAGCCAGGTGGCCCCGGCCTAAGACCTGCCTAGGACTCTGTGGCCGACTATAGGCGTCTCCCATCCCCTACACCTTCCCCCAGCCACAGCCATCCCACCAGGAGCAGCGCCTGTGCAGAATGAACGAAGTCACATAGGCTCCTTAATTTTTTTTTTTTTTTTAAGAAATAATTAATGAGGCTCCTCACTCACCTGGGACAGCCTGAGAAGGGACATCCACCAAGACCTACTGATCTGGAGTCCCACGTTCCCCAAGGCCAGCGGGATGTGTGCCCCTCCTCCTCCCAACTCATCTTTCAGGAACACGAGGATTCTTGCTTTCTGGAAAAGTGTCCCAGCTTAGGGATAAGTGTCTAGCACAGAATGGGGCACACAGTAGGTGCTTAATAAATGCTGGATGGATGCAGGAAGGAATGGAGGAATGAATGGGAAGGGAGAACATATCTATCCTCTCAGACCCTCGCAGCAGCAGCAACTCATACTTGGCTAATGATATGGAGCAGTTGTTTTTCCCTCCCTGGGCCTCACTTTCTTCTCCTATAAAATGGAAATCCCAGATCCCTGGTCCTGCCGACACGCAGCTACTGAGAAGACCAAAAGAGGTGTGTGTGTGTCTATGTGTGTGTTTCAGCACTTTGT
Task1_train_7582
The gene RHO (rhodopsin) is located on Chromosome 3, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Retinitis pigmentosa
GATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGGTGGGCCCAGGAACCTGCATTTCCAGCAAGCCCTCCACAGGTGGCTCAGATGCTCACTCAGGTGGGAGAAGCTCCAGTCAGCTAGTTCTGGAAGCCCAATGTCAAAGTCAGAAGGACCCAAGTCGGGAATGGGATGGGCCAGTCTCCATAAAGCTGAATAAGGAGCTAAAAAGTCTTATTCTGAGGGGTAAAGGGGTAAAGGGTTCCTCGGAGAGGTACCTCCGAGGGGTAAACAGTTGGGTAAACAGTCTCTGAAGTCAGCTCTGCCATTTTCTAGCTGTATGGCCCTGGGCAAGTCAATTTCCTTCTCTGTGCTTTGGTTTCCTCATCCATAGAAAGGTAGAAAGGGCAAAACACCAAACTCTTGGATTACAAGAGATAATTTACAGAACACCCTTGGCACACAGAGGGCACCATGAAATGTCACGGGTGACACAGCCCCCTTGTGCTCAGTCCCTGGCATCTCTAGGGGTGAGGAGCGTCTGCCTAGCAGGTTCCCTCCAGGAAGCTGGATTTGAGTGGATGGGGCGCTGGAATCGTGAGGGGCAGAAGCAGGCAAAGGGTCGGGGCGAACCTCACTAACGTGCCAGTTCCAAGCACACTGTGGGCAGCCCTGGCCCTGACTCAAGCCTCTTGCCTTCCAGTTCCGGAACTGCATGCTCACCACCATCTGCTGCGGCAAGAACCCACTGGGTGACGATGAGGCCTCTGCTACCGTGTCCAAGACGGAGACGAGCCAGGTGGCCCCGGCCTAAGACCTGCCTAGGACTCTGTGGCCGACTATAGGCGTCTCCCATCCCCTACACCTTCCCCCAGCCACAGCCATCCCACCAGGAGCAGCGCCTGTGCAGAATGAACGAAGTCACATAGGCTCCTTAATTTTTTTTTTTTTTTTAAGAAATAATTAATGAGGCTCCTCACTCACCTGGGACAGCCTGAGAAGGGACATCCACCAAGACCTACTGATCTGGAGTCCCACGTTCCCCAAGGCCAGCGGGATGTGTGCCCCTCCTCCTCCCAACTCATCTTTCAGGAACACGAGGATTCTTGCTTTCTGGAAAAGTGTCCCAGCTTAGGGATAAGTGTCTAGCACAGAATGGGGCACACAGTAGGTGCTTAATAAATGCTGGATGGATGCAGGAAGGAATGGAGGAATGAATGGGAAGGGAGAACATATCTATCCTCTCAGACCCTCGCAGCAGCAGCAACTCATACTTGGCTAATGATATGGAGCAGTTGTTTTTCCCTCCCTGGGCCTCACTTTCTTCTCCTATAAAATGGAAATCCCAGATCCCTGGTCCTGCCGACACGCAGCTACTGAGAAGACCAAAAGAGGTGTGTGTGTGTCTATGTGTGTGTTTCAGCACTTTGT
GATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCTACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGGTGGGCCCAGGAACCTGCATTTCCAGCAAGCCCTCCACAGGTGGCTCAGATGCTCACTCAGGTGGGAGAAGCTCCAGTCAGCTAGTTCTGGAAGCCCAATGTCAAAGTCAGAAGGACCCAAGTCGGGAATGGGATGGGCCAGTCTCCATAAAGCTGAATAAGGAGCTAAAAAGTCTTATTCTGAGGGGTAAAGGGGTAAAGGGTTCCTCGGAGAGGTACCTCCGAGGGGTAAACAGTTGGGTAAACAGTCTCTGAAGTCAGCTCTGCCATTTTCTAGCTGTATGGCCCTGGGCAAGTCAATTTCCTTCTCTGTGCTTTGGTTTCCTCATCCATAGAAAGGTAGAAAGGGCAAAACACCAAACTCTTGGATTACAAGAGATAATTTACAGAACACCCTTGGCACACAGAGGGCACCATGAAATGTCACGGGTGACACAGCCCCCTTGTGCTCAGTCCCTGGCATCTCTAGGGGTGAGGAGCGTCTGCCTAGCAGGTTCCCTCCAGGAAGCTGGATTTGAGTGGATGGGGCGCTGGAATCGTGAGGGGCAGAAGCAGGCAAAGGGTCGGGGCGAACCTCACTAACGTGCCAGTTCCAAGCACACTGTGGGCAGCCCTGGCCCTGACTCAAGCCTCTTGCCTTCCAGTTCCGGAACTGCATGCTCACCACCATCTGCTGCGGCAAGAACCCACTGGGTGACGATGAGGCCTCTGCTACCGTGTCCAAGACGGAGACGAGCCAGGTGGCCCCGGCCTAAGACCTGCCTAGGACTCTGTGGCCGACTATAGGCGTCTCCCATCCCCTACACCTTCCCCCAGCCACAGCCATCCCACCAGGAGCAGCGCCTGTGCAGAATGAACGAAGTCACATAGGCTCCTTAATTTTTTTTTTTTTTTTAAGAAATAATTAATGAGGCTCCTCACTCACCTGGGACAGCCTGAGAAGGGACATCCACCAAGACCTACTGATCTGGAGTCCCACGTTCCCCAAGGCCAGCGGGATGTGTGCCCCTCCTCCTCCCAACTCATCTTTCAGGAACACGAGGATTCTTGCTTTCTGGAAAAGTGTCCCAGCTTAGGGATAAGTGTCTAGCACAGAATGGGGCACACAGTAGGTGCTTAATAAATGCTGGATGGATGCAGGAAGGAATGGAGGAATGAATGGGAAGGGAGAACATATCTATCCTCTCAGACCCTCGCAGCAGCAGCAACTCATACTTGGCTAATGATATGGAGCAGTTGTTTTTCCCTCCCTGGGCCTCACTTTCTTCTCCTATAAAATGGAAATCCCAGATCCCTGGTCCTGCCGACACGCAGCTACTGAGAAGACCAAAAGAGGTGTGTGTGTGTCTATGTGTGTGTTTCAGCACTTTGT
Task1_train_7583
Given this context: Chromosome 3, gene RHO (rhodopsin) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Retinal dystrophy
ATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGGTGGGCCCAGGAACCTGCATTTCCAGCAAGCCCTCCACAGGTGGCTCAGATGCTCACTCAGGTGGGAGAAGCTCCAGTCAGCTAGTTCTGGAAGCCCAATGTCAAAGTCAGAAGGACCCAAGTCGGGAATGGGATGGGCCAGTCTCCATAAAGCTGAATAAGGAGCTAAAAAGTCTTATTCTGAGGGGTAAAGGGGTAAAGGGTTCCTCGGAGAGGTACCTCCGAGGGGTAAACAGTTGGGTAAACAGTCTCTGAAGTCAGCTCTGCCATTTTCTAGCTGTATGGCCCTGGGCAAGTCAATTTCCTTCTCTGTGCTTTGGTTTCCTCATCCATAGAAAGGTAGAAAGGGCAAAACACCAAACTCTTGGATTACAAGAGATAATTTACAGAACACCCTTGGCACACAGAGGGCACCATGAAATGTCACGGGTGACACAGCCCCCTTGTGCTCAGTCCCTGGCATCTCTAGGGGTGAGGAGCGTCTGCCTAGCAGGTTCCCTCCAGGAAGCTGGATTTGAGTGGATGGGGCGCTGGAATCGTGAGGGGCAGAAGCAGGCAAAGGGTCGGGGCGAACCTCACTAACGTGCCAGTTCCAAGCACACTGTGGGCAGCCCTGGCCCTGACTCAAGCCTCTTGCCTTCCAGTTCCGGAACTGCATGCTCACCACCATCTGCTGCGGCAAGAACCCACTGGGTGACGATGAGGCCTCTGCTACCGTGTCCAAGACGGAGACGAGCCAGGTGGCCCCGGCCTAAGACCTGCCTAGGACTCTGTGGCCGACTATAGGCGTCTCCCATCCCCTACACCTTCCCCCAGCCACAGCCATCCCACCAGGAGCAGCGCCTGTGCAGAATGAACGAAGTCACATAGGCTCCTTAATTTTTTTTTTTTTTTTAAGAAATAATTAATGAGGCTCCTCACTCACCTGGGACAGCCTGAGAAGGGACATCCACCAAGACCTACTGATCTGGAGTCCCACGTTCCCCAAGGCCAGCGGGATGTGTGCCCCTCCTCCTCCCAACTCATCTTTCAGGAACACGAGGATTCTTGCTTTCTGGAAAAGTGTCCCAGCTTAGGGATAAGTGTCTAGCACAGAATGGGGCACACAGTAGGTGCTTAATAAATGCTGGATGGATGCAGGAAGGAATGGAGGAATGAATGGGAAGGGAGAACATATCTATCCTCTCAGACCCTCGCAGCAGCAGCAACTCATACTTGGCTAATGATATGGAGCAGTTGTTTTTCCCTCCCTGGGCCTCACTTTCTTCTCCTATAAAATGGAAATCCCAGATCCCTGGTCCTGCCGACACGCAGCTACTGAGAAGACCAAAAGAGGTGTGTGTGTGTCTATGTGTGTGTTTCAGCACTTTGTA
ATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGGCTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGGTGGGCCCAGGAACCTGCATTTCCAGCAAGCCCTCCACAGGTGGCTCAGATGCTCACTCAGGTGGGAGAAGCTCCAGTCAGCTAGTTCTGGAAGCCCAATGTCAAAGTCAGAAGGACCCAAGTCGGGAATGGGATGGGCCAGTCTCCATAAAGCTGAATAAGGAGCTAAAAAGTCTTATTCTGAGGGGTAAAGGGGTAAAGGGTTCCTCGGAGAGGTACCTCCGAGGGGTAAACAGTTGGGTAAACAGTCTCTGAAGTCAGCTCTGCCATTTTCTAGCTGTATGGCCCTGGGCAAGTCAATTTCCTTCTCTGTGCTTTGGTTTCCTCATCCATAGAAAGGTAGAAAGGGCAAAACACCAAACTCTTGGATTACAAGAGATAATTTACAGAACACCCTTGGCACACAGAGGGCACCATGAAATGTCACGGGTGACACAGCCCCCTTGTGCTCAGTCCCTGGCATCTCTAGGGGTGAGGAGCGTCTGCCTAGCAGGTTCCCTCCAGGAAGCTGGATTTGAGTGGATGGGGCGCTGGAATCGTGAGGGGCAGAAGCAGGCAAAGGGTCGGGGCGAACCTCACTAACGTGCCAGTTCCAAGCACACTGTGGGCAGCCCTGGCCCTGACTCAAGCCTCTTGCCTTCCAGTTCCGGAACTGCATGCTCACCACCATCTGCTGCGGCAAGAACCCACTGGGTGACGATGAGGCCTCTGCTACCGTGTCCAAGACGGAGACGAGCCAGGTGGCCCCGGCCTAAGACCTGCCTAGGACTCTGTGGCCGACTATAGGCGTCTCCCATCCCCTACACCTTCCCCCAGCCACAGCCATCCCACCAGGAGCAGCGCCTGTGCAGAATGAACGAAGTCACATAGGCTCCTTAATTTTTTTTTTTTTTTTAAGAAATAATTAATGAGGCTCCTCACTCACCTGGGACAGCCTGAGAAGGGACATCCACCAAGACCTACTGATCTGGAGTCCCACGTTCCCCAAGGCCAGCGGGATGTGTGCCCCTCCTCCTCCCAACTCATCTTTCAGGAACACGAGGATTCTTGCTTTCTGGAAAAGTGTCCCAGCTTAGGGATAAGTGTCTAGCACAGAATGGGGCACACAGTAGGTGCTTAATAAATGCTGGATGGATGCAGGAAGGAATGGAGGAATGAATGGGAAGGGAGAACATATCTATCCTCTCAGACCCTCGCAGCAGCAGCAACTCATACTTGGCTAATGATATGGAGCAGTTGTTTTTCCCTCCCTGGGCCTCACTTTCTTCTCCTATAAAATGGAAATCCCAGATCCCTGGTCCTGCCGACACGCAGCTACTGAGAAGACCAAAAGAGGTGTGTGTGTGTCTATGTGTGTGTTTCAGCACTTTGTA
Task1_train_7584
A variant was discovered in gene RHO (rhodopsin), Chromosome 3. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; not provided
TTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGGTGGGCCCAGGAACCTGCATTTCCAGCAAGCCCTCCACAGGTGGCTCAGATGCTCACTCAGGTGGGAGAAGCTCCAGTCAGCTAGTTCTGGAAGCCCAATGTCAAAGTCAGAAGGACCCAAGTCGGGAATGGGATGGGCCAGTCTCCATAAAGCTGAATAAGGAGCTAAAAAGTCTTATTCTGAGGGGTAAAGGGGTAAAGGGTTCCTCGGAGAGGTACCTCCGAGGGGTAAACAGTTGGGTAAACAGTCTCTGAAGTCAGCTCTGCCATTTTCTAGCTGTATGGCCCTGGGCAAGTCAATTTCCTTCTCTGTGCTTTGGTTTCCTCATCCATAGAAAGGTAGAAAGGGCAAAACACCAAACTCTTGGATTACAAGAGATAATTTACAGAACACCCTTGGCACACAGAGGGCACCATGAAATGTCACGGGTGACACAGCCCCCTTGTGCTCAGTCCCTGGCATCTCTAGGGGTGAGGAGCGTCTGCCTAGCAGGTTCCCTCCAGGAAGCTGGATTTGAGTGGATGGGGCGCTGGAATCGTGAGGGGCAGAAGCAGGCAAAGGGTCGGGGCGAACCTCACTAACGTGCCAGTTCCAAGCACACTGTGGGCAGCCCTGGCCCTGACTCAAGCCTCTTGCCTTCCAGTTCCGGAACTGCATGCTCACCACCATCTGCTGCGGCAAGAACCCACTGGGTGACGATGAGGCCTCTGCTACCGTGTCCAAGACGGAGACGAGCCAGGTGGCCCCGGCCTAAGACCTGCCTAGGACTCTGTGGCCGACTATAGGCGTCTCCCATCCCCTACACCTTCCCCCAGCCACAGCCATCCCACCAGGAGCAGCGCCTGTGCAGAATGAACGAAGTCACATAGGCTCCTTAATTTTTTTTTTTTTTTTAAGAAATAATTAATGAGGCTCCTCACTCACCTGGGACAGCCTGAGAAGGGACATCCACCAAGACCTACTGATCTGGAGTCCCACGTTCCCCAAGGCCAGCGGGATGTGTGCCCCTCCTCCTCCCAACTCATCTTTCAGGAACACGAGGATTCTTGCTTTCTGGAAAAGTGTCCCAGCTTAGGGATAAGTGTCTAGCACAGAATGGGGCACACAGTAGGTGCTTAATAAATGCTGGATGGATGCAGGAAGGAATGGAGGAATGAATGGGAAGGGAGAACATATCTATCCTCTCAGACCCTCGCAGCAGCAGCAACTCATACTTGGCTAATGATATGGAGCAGTTGTTTTTCCCTCCCTGGGCCTCACTTTCTTCTCCTATAAAATGGAAATCCCAGATCCCTGGTCCTGCCGACACGCAGCTACTGAGAAGACCAAAAGAGGTGTGTGTGTGTCTATGTGTGTGTTTCAGCACTTTGTAA
TTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGAGTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGGTGGGCCCAGGAACCTGCATTTCCAGCAAGCCCTCCACAGGTGGCTCAGATGCTCACTCAGGTGGGAGAAGCTCCAGTCAGCTAGTTCTGGAAGCCCAATGTCAAAGTCAGAAGGACCCAAGTCGGGAATGGGATGGGCCAGTCTCCATAAAGCTGAATAAGGAGCTAAAAAGTCTTATTCTGAGGGGTAAAGGGGTAAAGGGTTCCTCGGAGAGGTACCTCCGAGGGGTAAACAGTTGGGTAAACAGTCTCTGAAGTCAGCTCTGCCATTTTCTAGCTGTATGGCCCTGGGCAAGTCAATTTCCTTCTCTGTGCTTTGGTTTCCTCATCCATAGAAAGGTAGAAAGGGCAAAACACCAAACTCTTGGATTACAAGAGATAATTTACAGAACACCCTTGGCACACAGAGGGCACCATGAAATGTCACGGGTGACACAGCCCCCTTGTGCTCAGTCCCTGGCATCTCTAGGGGTGAGGAGCGTCTGCCTAGCAGGTTCCCTCCAGGAAGCTGGATTTGAGTGGATGGGGCGCTGGAATCGTGAGGGGCAGAAGCAGGCAAAGGGTCGGGGCGAACCTCACTAACGTGCCAGTTCCAAGCACACTGTGGGCAGCCCTGGCCCTGACTCAAGCCTCTTGCCTTCCAGTTCCGGAACTGCATGCTCACCACCATCTGCTGCGGCAAGAACCCACTGGGTGACGATGAGGCCTCTGCTACCGTGTCCAAGACGGAGACGAGCCAGGTGGCCCCGGCCTAAGACCTGCCTAGGACTCTGTGGCCGACTATAGGCGTCTCCCATCCCCTACACCTTCCCCCAGCCACAGCCATCCCACCAGGAGCAGCGCCTGTGCAGAATGAACGAAGTCACATAGGCTCCTTAATTTTTTTTTTTTTTTTAAGAAATAATTAATGAGGCTCCTCACTCACCTGGGACAGCCTGAGAAGGGACATCCACCAAGACCTACTGATCTGGAGTCCCACGTTCCCCAAGGCCAGCGGGATGTGTGCCCCTCCTCCTCCCAACTCATCTTTCAGGAACACGAGGATTCTTGCTTTCTGGAAAAGTGTCCCAGCTTAGGGATAAGTGTCTAGCACAGAATGGGGCACACAGTAGGTGCTTAATAAATGCTGGATGGATGCAGGAAGGAATGGAGGAATGAATGGGAAGGGAGAACATATCTATCCTCTCAGACCCTCGCAGCAGCAGCAACTCATACTTGGCTAATGATATGGAGCAGTTGTTTTTCCCTCCCTGGGCCTCACTTTCTTCTCCTATAAAATGGAAATCCCAGATCCCTGGTCCTGCCGACACGCAGCTACTGAGAAGACCAAAAGAGGTGTGTGTGTGTCTATGTGTGTGTTTCAGCACTTTGTAA
Task1_train_7585
This variant lies on Chromosome 3 and affects the gene RHO (rhodopsin). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Retinal dystrophy
ACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGGTGGGCCCAGGAACCTGCATTTCCAGCAAGCCCTCCACAGGTGGCTCAGATGCTCACTCAGGTGGGAGAAGCTCCAGTCAGCTAGTTCTGGAAGCCCAATGTCAAAGTCAGAAGGACCCAAGTCGGGAATGGGATGGGCCAGTCTCCATAAAGCTGAATAAGGAGCTAAAAAGTCTTATTCTGAGGGGTAAAGGGGTAAAGGGTTCCTCGGAGAGGTACCTCCGAGGGGTAAACAGTTGGGTAAACAGTCTCTGAAGTCAGCTCTGCCATTTTCTAGCTGTATGGCCCTGGGCAAGTCAATTTCCTTCTCTGTGCTTTGGTTTCCTCATCCATAGAAAGGTAGAAAGGGCAAAACACCAAACTCTTGGATTACAAGAGATAATTTACAGAACACCCTTGGCACACAGAGGGCACCATGAAATGTCACGGGTGACACAGCCCCCTTGTGCTCAGTCCCTGGCATCTCTAGGGGTGAGGAGCGTCTGCCTAGCAGGTTCCCTCCAGGAAGCTGGATTTGAGTGGATGGGGCGCTGGAATCGTGAGGGGCAGAAGCAGGCAAAGGGTCGGGGCGAACCTCACTAACGTGCCAGTTCCAAGCACACTGTGGGCAGCCCTGGCCCTGACTCAAGCCTCTTGCCTTCCAGTTCCGGAACTGCATGCTCACCACCATCTGCTGCGGCAAGAACCCACTGGGTGACGATGAGGCCTCTGCTACCGTGTCCAAGACGGAGACGAGCCAGGTGGCCCCGGCCTAAGACCTGCCTAGGACTCTGTGGCCGACTATAGGCGTCTCCCATCCCCTACACCTTCCCCCAGCCACAGCCATCCCACCAGGAGCAGCGCCTGTGCAGAATGAACGAAGTCACATAGGCTCCTTAATTTTTTTTTTTTTTTTAAGAAATAATTAATGAGGCTCCTCACTCACCTGGGACAGCCTGAGAAGGGACATCCACCAAGACCTACTGATCTGGAGTCCCACGTTCCCCAAGGCCAGCGGGATGTGTGCCCCTCCTCCTCCCAACTCATCTTTCAGGAACACGAGGATTCTTGCTTTCTGGAAAAGTGTCCCAGCTTAGGGATAAGTGTCTAGCACAGAATGGGGCACACAGTAGGTGCTTAATAAATGCTGGATGGATGCAGGAAGGAATGGAGGAATGAATGGGAAGGGAGAACATATCTATCCTCTCAGACCCTCGCAGCAGCAGCAACTCATACTTGGCTAATGATATGGAGCAGTTGTTTTTCCCTCCCTGGGCCTCACTTTCTTCTCCTATAAAATGGAAATCCCAGATCCCTGGTCCTGCCGACACGCAGCTACTGAGAAGACCAAAAGAGGTGTGTGTGTGTCTATGTGTGTGTTTCAGCACTTTGTAAATAGCAAGAAGCTGTACAGATTCTAGTTAATGTTGTGAATAACATCAATT
ACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACAGGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGGTGGGCCCAGGAACCTGCATTTCCAGCAAGCCCTCCACAGGTGGCTCAGATGCTCACTCAGGTGGGAGAAGCTCCAGTCAGCTAGTTCTGGAAGCCCAATGTCAAAGTCAGAAGGACCCAAGTCGGGAATGGGATGGGCCAGTCTCCATAAAGCTGAATAAGGAGCTAAAAAGTCTTATTCTGAGGGGTAAAGGGGTAAAGGGTTCCTCGGAGAGGTACCTCCGAGGGGTAAACAGTTGGGTAAACAGTCTCTGAAGTCAGCTCTGCCATTTTCTAGCTGTATGGCCCTGGGCAAGTCAATTTCCTTCTCTGTGCTTTGGTTTCCTCATCCATAGAAAGGTAGAAAGGGCAAAACACCAAACTCTTGGATTACAAGAGATAATTTACAGAACACCCTTGGCACACAGAGGGCACCATGAAATGTCACGGGTGACACAGCCCCCTTGTGCTCAGTCCCTGGCATCTCTAGGGGTGAGGAGCGTCTGCCTAGCAGGTTCCCTCCAGGAAGCTGGATTTGAGTGGATGGGGCGCTGGAATCGTGAGGGGCAGAAGCAGGCAAAGGGTCGGGGCGAACCTCACTAACGTGCCAGTTCCAAGCACACTGTGGGCAGCCCTGGCCCTGACTCAAGCCTCTTGCCTTCCAGTTCCGGAACTGCATGCTCACCACCATCTGCTGCGGCAAGAACCCACTGGGTGACGATGAGGCCTCTGCTACCGTGTCCAAGACGGAGACGAGCCAGGTGGCCCCGGCCTAAGACCTGCCTAGGACTCTGTGGCCGACTATAGGCGTCTCCCATCCCCTACACCTTCCCCCAGCCACAGCCATCCCACCAGGAGCAGCGCCTGTGCAGAATGAACGAAGTCACATAGGCTCCTTAATTTTTTTTTTTTTTTTAAGAAATAATTAATGAGGCTCCTCACTCACCTGGGACAGCCTGAGAAGGGACATCCACCAAGACCTACTGATCTGGAGTCCCACGTTCCCCAAGGCCAGCGGGATGTGTGCCCCTCCTCCTCCCAACTCATCTTTCAGGAACACGAGGATTCTTGCTTTCTGGAAAAGTGTCCCAGCTTAGGGATAAGTGTCTAGCACAGAATGGGGCACACAGTAGGTGCTTAATAAATGCTGGATGGATGCAGGAAGGAATGGAGGAATGAATGGGAAGGGAGAACATATCTATCCTCTCAGACCCTCGCAGCAGCAGCAACTCATACTTGGCTAATGATATGGAGCAGTTGTTTTTCCCTCCCTGGGCCTCACTTTCTTCTCCTATAAAATGGAAATCCCAGATCCCTGGTCCTGCCGACACGCAGCTACTGAGAAGACCAAAAGAGGTGTGTGTGTGTCTATGTGTGTGTTTCAGCACTTTGTAAATAGCAAGAAGCTGTACAGATTCTAGTTAATGTTGTGAATAACATCAATT
Task1_train_7586
The following genetic variant occurs in RHO (rhodopsin) on Chromosome 3. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; not provided
ATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGGTGGGCCCAGGAACCTGCATTTCCAGCAAGCCCTCCACAGGTGGCTCAGATGCTCACTCAGGTGGGAGAAGCTCCAGTCAGCTAGTTCTGGAAGCCCAATGTCAAAGTCAGAAGGACCCAAGTCGGGAATGGGATGGGCCAGTCTCCATAAAGCTGAATAAGGAGCTAAAAAGTCTTATTCTGAGGGGTAAAGGGGTAAAGGGTTCCTCGGAGAGGTACCTCCGAGGGGTAAACAGTTGGGTAAACAGTCTCTGAAGTCAGCTCTGCCATTTTCTAGCTGTATGGCCCTGGGCAAGTCAATTTCCTTCTCTGTGCTTTGGTTTCCTCATCCATAGAAAGGTAGAAAGGGCAAAACACCAAACTCTTGGATTACAAGAGATAATTTACAGAACACCCTTGGCACACAGAGGGCACCATGAAATGTCACGGGTGACACAGCCCCCTTGTGCTCAGTCCCTGGCATCTCTAGGGGTGAGGAGCGTCTGCCTAGCAGGTTCCCTCCAGGAAGCTGGATTTGAGTGGATGGGGCGCTGGAATCGTGAGGGGCAGAAGCAGGCAAAGGGTCGGGGCGAACCTCACTAACGTGCCAGTTCCAAGCACACTGTGGGCAGCCCTGGCCCTGACTCAAGCCTCTTGCCTTCCAGTTCCGGAACTGCATGCTCACCACCATCTGCTGCGGCAAGAACCCACTGGGTGACGATGAGGCCTCTGCTACCGTGTCCAAGACGGAGACGAGCCAGGTGGCCCCGGCCTAAGACCTGCCTAGGACTCTGTGGCCGACTATAGGCGTCTCCCATCCCCTACACCTTCCCCCAGCCACAGCCATCCCACCAGGAGCAGCGCCTGTGCAGAATGAACGAAGTCACATAGGCTCCTTAATTTTTTTTTTTTTTTTAAGAAATAATTAATGAGGCTCCTCACTCACCTGGGACAGCCTGAGAAGGGACATCCACCAAGACCTACTGATCTGGAGTCCCACGTTCCCCAAGGCCAGCGGGATGTGTGCCCCTCCTCCTCCCAACTCATCTTTCAGGAACACGAGGATTCTTGCTTTCTGGAAAAGTGTCCCAGCTTAGGGATAAGTGTCTAGCACAGAATGGGGCACACAGTAGGTGCTTAATAAATGCTGGATGGATGCAGGAAGGAATGGAGGAATGAATGGGAAGGGAGAACATATCTATCCTCTCAGACCCTCGCAGCAGCAGCAACTCATACTTGGCTAATGATATGGAGCAGTTGTTTTTCCCTCCCTGGGCCTCACTTTCTTCTCCTATAAAATGGAAATCCCAGATCCCTGGTCCTGCCGACACGCAGCTACTGAGAAGACCAAAAGAGGTGTGTGTGTGTCTATGTGTGTGTTTCAGCACTTTGTAAATAGCAAGAAGCTGTACAGATTCTAGTTAATGTTGTGAATAACATCAATTAATGTAACTAGT
ATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCGCTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGGTGGGCCCAGGAACCTGCATTTCCAGCAAGCCCTCCACAGGTGGCTCAGATGCTCACTCAGGTGGGAGAAGCTCCAGTCAGCTAGTTCTGGAAGCCCAATGTCAAAGTCAGAAGGACCCAAGTCGGGAATGGGATGGGCCAGTCTCCATAAAGCTGAATAAGGAGCTAAAAAGTCTTATTCTGAGGGGTAAAGGGGTAAAGGGTTCCTCGGAGAGGTACCTCCGAGGGGTAAACAGTTGGGTAAACAGTCTCTGAAGTCAGCTCTGCCATTTTCTAGCTGTATGGCCCTGGGCAAGTCAATTTCCTTCTCTGTGCTTTGGTTTCCTCATCCATAGAAAGGTAGAAAGGGCAAAACACCAAACTCTTGGATTACAAGAGATAATTTACAGAACACCCTTGGCACACAGAGGGCACCATGAAATGTCACGGGTGACACAGCCCCCTTGTGCTCAGTCCCTGGCATCTCTAGGGGTGAGGAGCGTCTGCCTAGCAGGTTCCCTCCAGGAAGCTGGATTTGAGTGGATGGGGCGCTGGAATCGTGAGGGGCAGAAGCAGGCAAAGGGTCGGGGCGAACCTCACTAACGTGCCAGTTCCAAGCACACTGTGGGCAGCCCTGGCCCTGACTCAAGCCTCTTGCCTTCCAGTTCCGGAACTGCATGCTCACCACCATCTGCTGCGGCAAGAACCCACTGGGTGACGATGAGGCCTCTGCTACCGTGTCCAAGACGGAGACGAGCCAGGTGGCCCCGGCCTAAGACCTGCCTAGGACTCTGTGGCCGACTATAGGCGTCTCCCATCCCCTACACCTTCCCCCAGCCACAGCCATCCCACCAGGAGCAGCGCCTGTGCAGAATGAACGAAGTCACATAGGCTCCTTAATTTTTTTTTTTTTTTTAAGAAATAATTAATGAGGCTCCTCACTCACCTGGGACAGCCTGAGAAGGGACATCCACCAAGACCTACTGATCTGGAGTCCCACGTTCCCCAAGGCCAGCGGGATGTGTGCCCCTCCTCCTCCCAACTCATCTTTCAGGAACACGAGGATTCTTGCTTTCTGGAAAAGTGTCCCAGCTTAGGGATAAGTGTCTAGCACAGAATGGGGCACACAGTAGGTGCTTAATAAATGCTGGATGGATGCAGGAAGGAATGGAGGAATGAATGGGAAGGGAGAACATATCTATCCTCTCAGACCCTCGCAGCAGCAGCAACTCATACTTGGCTAATGATATGGAGCAGTTGTTTTTCCCTCCCTGGGCCTCACTTTCTTCTCCTATAAAATGGAAATCCCAGATCCCTGGTCCTGCCGACACGCAGCTACTGAGAAGACCAAAAGAGGTGTGTGTGTGTCTATGTGTGTGTTTCAGCACTTTGTAAATAGCAAGAAGCTGTACAGATTCTAGTTAATGTTGTGAATAACATCAATTAATGTAACTAGT
Task1_train_7587
A mutation in RHO (rhodopsin), located on Chromosome 3, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Retinal dystrophy
CCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGGTGGGCCCAGGAACCTGCATTTCCAGCAAGCCCTCCACAGGTGGCTCAGATGCTCACTCAGGTGGGAGAAGCTCCAGTCAGCTAGTTCTGGAAGCCCAATGTCAAAGTCAGAAGGACCCAAGTCGGGAATGGGATGGGCCAGTCTCCATAAAGCTGAATAAGGAGCTAAAAAGTCTTATTCTGAGGGGTAAAGGGGTAAAGGGTTCCTCGGAGAGGTACCTCCGAGGGGTAAACAGTTGGGTAAACAGTCTCTGAAGTCAGCTCTGCCATTTTCTAGCTGTATGGCCCTGGGCAAGTCAATTTCCTTCTCTGTGCTTTGGTTTCCTCATCCATAGAAAGGTAGAAAGGGCAAAACACCAAACTCTTGGATTACAAGAGATAATTTACAGAACACCCTTGGCACACAGAGGGCACCATGAAATGTCACGGGTGACACAGCCCCCTTGTGCTCAGTCCCTGGCATCTCTAGGGGTGAGGAGCGTCTGCCTAGCAGGTTCCCTCCAGGAAGCTGGATTTGAGTGGATGGGGCGCTGGAATCGTGAGGGGCAGAAGCAGGCAAAGGGTCGGGGCGAACCTCACTAACGTGCCAGTTCCAAGCACACTGTGGGCAGCCCTGGCCCTGACTCAAGCCTCTTGCCTTCCAGTTCCGGAACTGCATGCTCACCACCATCTGCTGCGGCAAGAACCCACTGGGTGACGATGAGGCCTCTGCTACCGTGTCCAAGACGGAGACGAGCCAGGTGGCCCCGGCCTAAGACCTGCCTAGGACTCTGTGGCCGACTATAGGCGTCTCCCATCCCCTACACCTTCCCCCAGCCACAGCCATCCCACCAGGAGCAGCGCCTGTGCAGAATGAACGAAGTCACATAGGCTCCTTAATTTTTTTTTTTTTTTTAAGAAATAATTAATGAGGCTCCTCACTCACCTGGGACAGCCTGAGAAGGGACATCCACCAAGACCTACTGATCTGGAGTCCCACGTTCCCCAAGGCCAGCGGGATGTGTGCCCCTCCTCCTCCCAACTCATCTTTCAGGAACACGAGGATTCTTGCTTTCTGGAAAAGTGTCCCAGCTTAGGGATAAGTGTCTAGCACAGAATGGGGCACACAGTAGGTGCTTAATAAATGCTGGATGGATGCAGGAAGGAATGGAGGAATGAATGGGAAGGGAGAACATATCTATCCTCTCAGACCCTCGCAGCAGCAGCAACTCATACTTGGCTAATGATATGGAGCAGTTGTTTTTCCCTCCCTGGGCCTCACTTTCTTCTCCTATAAAATGGAAATCCCAGATCCCTGGTCCTGCCGACACGCAGCTACTGAGAAGACCAAAAGAGGTGTGTGTGTGTCTATGTGTGTGTTTCAGCACTTTGTAAATAGCAAGAAGCTGTACAGATTCTAGTTAATGTTGTGAATAACATCAATTAATGTAACTAGTTAATTACTATGA
CCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCTCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGGTGGGCCCAGGAACCTGCATTTCCAGCAAGCCCTCCACAGGTGGCTCAGATGCTCACTCAGGTGGGAGAAGCTCCAGTCAGCTAGTTCTGGAAGCCCAATGTCAAAGTCAGAAGGACCCAAGTCGGGAATGGGATGGGCCAGTCTCCATAAAGCTGAATAAGGAGCTAAAAAGTCTTATTCTGAGGGGTAAAGGGGTAAAGGGTTCCTCGGAGAGGTACCTCCGAGGGGTAAACAGTTGGGTAAACAGTCTCTGAAGTCAGCTCTGCCATTTTCTAGCTGTATGGCCCTGGGCAAGTCAATTTCCTTCTCTGTGCTTTGGTTTCCTCATCCATAGAAAGGTAGAAAGGGCAAAACACCAAACTCTTGGATTACAAGAGATAATTTACAGAACACCCTTGGCACACAGAGGGCACCATGAAATGTCACGGGTGACACAGCCCCCTTGTGCTCAGTCCCTGGCATCTCTAGGGGTGAGGAGCGTCTGCCTAGCAGGTTCCCTCCAGGAAGCTGGATTTGAGTGGATGGGGCGCTGGAATCGTGAGGGGCAGAAGCAGGCAAAGGGTCGGGGCGAACCTCACTAACGTGCCAGTTCCAAGCACACTGTGGGCAGCCCTGGCCCTGACTCAAGCCTCTTGCCTTCCAGTTCCGGAACTGCATGCTCACCACCATCTGCTGCGGCAAGAACCCACTGGGTGACGATGAGGCCTCTGCTACCGTGTCCAAGACGGAGACGAGCCAGGTGGCCCCGGCCTAAGACCTGCCTAGGACTCTGTGGCCGACTATAGGCGTCTCCCATCCCCTACACCTTCCCCCAGCCACAGCCATCCCACCAGGAGCAGCGCCTGTGCAGAATGAACGAAGTCACATAGGCTCCTTAATTTTTTTTTTTTTTTTAAGAAATAATTAATGAGGCTCCTCACTCACCTGGGACAGCCTGAGAAGGGACATCCACCAAGACCTACTGATCTGGAGTCCCACGTTCCCCAAGGCCAGCGGGATGTGTGCCCCTCCTCCTCCCAACTCATCTTTCAGGAACACGAGGATTCTTGCTTTCTGGAAAAGTGTCCCAGCTTAGGGATAAGTGTCTAGCACAGAATGGGGCACACAGTAGGTGCTTAATAAATGCTGGATGGATGCAGGAAGGAATGGAGGAATGAATGGGAAGGGAGAACATATCTATCCTCTCAGACCCTCGCAGCAGCAGCAACTCATACTTGGCTAATGATATGGAGCAGTTGTTTTTCCCTCCCTGGGCCTCACTTTCTTCTCCTATAAAATGGAAATCCCAGATCCCTGGTCCTGCCGACACGCAGCTACTGAGAAGACCAAAAGAGGTGTGTGTGTGTCTATGTGTGTGTTTCAGCACTTTGTAAATAGCAAGAAGCTGTACAGATTCTAGTTAATGTTGTGAATAACATCAATTAATGTAACTAGTTAATTACTATGA
Task1_train_7588
Assess the clinical impact of this variant on gene RHO (rhodopsin), found on Chromosome 3. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; not provided
CCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGGTGGGCCCAGGAACCTGCATTTCCAGCAAGCCCTCCACAGGTGGCTCAGATGCTCACTCAGGTGGGAGAAGCTCCAGTCAGCTAGTTCTGGAAGCCCAATGTCAAAGTCAGAAGGACCCAAGTCGGGAATGGGATGGGCCAGTCTCCATAAAGCTGAATAAGGAGCTAAAAAGTCTTATTCTGAGGGGTAAAGGGGTAAAGGGTTCCTCGGAGAGGTACCTCCGAGGGGTAAACAGTTGGGTAAACAGTCTCTGAAGTCAGCTCTGCCATTTTCTAGCTGTATGGCCCTGGGCAAGTCAATTTCCTTCTCTGTGCTTTGGTTTCCTCATCCATAGAAAGGTAGAAAGGGCAAAACACCAAACTCTTGGATTACAAGAGATAATTTACAGAACACCCTTGGCACACAGAGGGCACCATGAAATGTCACGGGTGACACAGCCCCCTTGTGCTCAGTCCCTGGCATCTCTAGGGGTGAGGAGCGTCTGCCTAGCAGGTTCCCTCCAGGAAGCTGGATTTGAGTGGATGGGGCGCTGGAATCGTGAGGGGCAGAAGCAGGCAAAGGGTCGGGGCGAACCTCACTAACGTGCCAGTTCCAAGCACACTGTGGGCAGCCCTGGCCCTGACTCAAGCCTCTTGCCTTCCAGTTCCGGAACTGCATGCTCACCACCATCTGCTGCGGCAAGAACCCACTGGGTGACGATGAGGCCTCTGCTACCGTGTCCAAGACGGAGACGAGCCAGGTGGCCCCGGCCTAAGACCTGCCTAGGACTCTGTGGCCGACTATAGGCGTCTCCCATCCCCTACACCTTCCCCCAGCCACAGCCATCCCACCAGGAGCAGCGCCTGTGCAGAATGAACGAAGTCACATAGGCTCCTTAATTTTTTTTTTTTTTTTAAGAAATAATTAATGAGGCTCCTCACTCACCTGGGACAGCCTGAGAAGGGACATCCACCAAGACCTACTGATCTGGAGTCCCACGTTCCCCAAGGCCAGCGGGATGTGTGCCCCTCCTCCTCCCAACTCATCTTTCAGGAACACGAGGATTCTTGCTTTCTGGAAAAGTGTCCCAGCTTAGGGATAAGTGTCTAGCACAGAATGGGGCACACAGTAGGTGCTTAATAAATGCTGGATGGATGCAGGAAGGAATGGAGGAATGAATGGGAAGGGAGAACATATCTATCCTCTCAGACCCTCGCAGCAGCAGCAACTCATACTTGGCTAATGATATGGAGCAGTTGTTTTTCCCTCCCTGGGCCTCACTTTCTTCTCCTATAAAATGGAAATCCCAGATCCCTGGTCCTGCCGACACGCAGCTACTGAGAAGACCAAAAGAGGTGTGTGTGTGTCTATGTGTGTGTTTCAGCACTTTGTAAATAGCAAGAAGCTGTACAGATTCTAGTTAATGTTGTGAATAACATCAATTAATGTAACTAGTTAATTACTATGATTATCACCTCCTGATAGTGAACATTTTGAGATTGGGCATTCAGATGATGGGGTTTCACCCAACCTTGGGGCAGGTTTTTAAAAATTAGCTAGGCATCAAGGCCAGACCAGGGCTGGGGGTTGGGCTGTAGGCAGGGACAGTCACAGGAATGCAGAATGCAGTCATCAGACCTGAAAAAACAACACTGGGGGAGGGGGACGGTGAAGGCCAAGTTCCCAATGAGGGTGAGATTGGGCCTGGGGTCTCACCCCTAGTGTGGGGCCCCAGGTCC
CCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGACCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGGTGGGCCCAGGAACCTGCATTTCCAGCAAGCCCTCCACAGGTGGCTCAGATGCTCACTCAGGTGGGAGAAGCTCCAGTCAGCTAGTTCTGGAAGCCCAATGTCAAAGTCAGAAGGACCCAAGTCGGGAATGGGATGGGCCAGTCTCCATAAAGCTGAATAAGGAGCTAAAAAGTCTTATTCTGAGGGGTAAAGGGGTAAAGGGTTCCTCGGAGAGGTACCTCCGAGGGGTAAACAGTTGGGTAAACAGTCTCTGAAGTCAGCTCTGCCATTTTCTAGCTGTATGGCCCTGGGCAAGTCAATTTCCTTCTCTGTGCTTTGGTTTCCTCATCCATAGAAAGGTAGAAAGGGCAAAACACCAAACTCTTGGATTACAAGAGATAATTTACAGAACACCCTTGGCACACAGAGGGCACCATGAAATGTCACGGGTGACACAGCCCCCTTGTGCTCAGTCCCTGGCATCTCTAGGGGTGAGGAGCGTCTGCCTAGCAGGTTCCCTCCAGGAAGCTGGATTTGAGTGGATGGGGCGCTGGAATCGTGAGGGGCAGAAGCAGGCAAAGGGTCGGGGCGAACCTCACTAACGTGCCAGTTCCAAGCACACTGTGGGCAGCCCTGGCCCTGACTCAAGCCTCTTGCCTTCCAGTTCCGGAACTGCATGCTCACCACCATCTGCTGCGGCAAGAACCCACTGGGTGACGATGAGGCCTCTGCTACCGTGTCCAAGACGGAGACGAGCCAGGTGGCCCCGGCCTAAGACCTGCCTAGGACTCTGTGGCCGACTATAGGCGTCTCCCATCCCCTACACCTTCCCCCAGCCACAGCCATCCCACCAGGAGCAGCGCCTGTGCAGAATGAACGAAGTCACATAGGCTCCTTAATTTTTTTTTTTTTTTTAAGAAATAATTAATGAGGCTCCTCACTCACCTGGGACAGCCTGAGAAGGGACATCCACCAAGACCTACTGATCTGGAGTCCCACGTTCCCCAAGGCCAGCGGGATGTGTGCCCCTCCTCCTCCCAACTCATCTTTCAGGAACACGAGGATTCTTGCTTTCTGGAAAAGTGTCCCAGCTTAGGGATAAGTGTCTAGCACAGAATGGGGCACACAGTAGGTGCTTAATAAATGCTGGATGGATGCAGGAAGGAATGGAGGAATGAATGGGAAGGGAGAACATATCTATCCTCTCAGACCCTCGCAGCAGCAGCAACTCATACTTGGCTAATGATATGGAGCAGTTGTTTTTCCCTCCCTGGGCCTCACTTTCTTCTCCTATAAAATGGAAATCCCAGATCCCTGGTCCTGCCGACACGCAGCTACTGAGAAGACCAAAAGAGGTGTGTGTGTGTCTATGTGTGTGTTTCAGCACTTTGTAAATAGCAAGAAGCTGTACAGATTCTAGTTAATGTTGTGAATAACATCAATTAATGTAACTAGTTAATTACTATGATTATCACCTCCTGATAGTGAACATTTTGAGATTGGGCATTCAGATGATGGGGTTTCACCCAACCTTGGGGCAGGTTTTTAAAAATTAGCTAGGCATCAAGGCCAGACCAGGGCTGGGGGTTGGGCTGTAGGCAGGGACAGTCACAGGAATGCAGAATGCAGTCATCAGACCTGAAAAAACAACACTGGGGGAGGGGGACGGTGAAGGCCAAGTTCCCAATGAGGGTGAGATTGGGCCTGGGGTCTCACCCCTAGTGTGGGGCCCCAGGTCC
Task1_train_7589
This variant impacts the gene RHO (rhodopsin) on Chromosome 3. Is the change likely to result in a pathogenic outcome?
Pathogenic; Retinitis pigmentosa 4
CAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGGTGGGCCCAGGAACCTGCATTTCCAGCAAGCCCTCCACAGGTGGCTCAGATGCTCACTCAGGTGGGAGAAGCTCCAGTCAGCTAGTTCTGGAAGCCCAATGTCAAAGTCAGAAGGACCCAAGTCGGGAATGGGATGGGCCAGTCTCCATAAAGCTGAATAAGGAGCTAAAAAGTCTTATTCTGAGGGGTAAAGGGGTAAAGGGTTCCTCGGAGAGGTACCTCCGAGGGGTAAACAGTTGGGTAAACAGTCTCTGAAGTCAGCTCTGCCATTTTCTAGCTGTATGGCCCTGGGCAAGTCAATTTCCTTCTCTGTGCTTTGGTTTCCTCATCCATAGAAAGGTAGAAAGGGCAAAACACCAAACTCTTGGATTACAAGAGATAATTTACAGAACACCCTTGGCACACAGAGGGCACCATGAAATGTCACGGGTGACACAGCCCCCTTGTGCTCAGTCCCTGGCATCTCTAGGGGTGAGGAGCGTCTGCCTAGCAGGTTCCCTCCAGGAAGCTGGATTTGAGTGGATGGGGCGCTGGAATCGTGAGGGGCAGAAGCAGGCAAAGGGTCGGGGCGAACCTCACTAACGTGCCAGTTCCAAGCACACTGTGGGCAGCCCTGGCCCTGACTCAAGCCTCTTGCCTTCCAGTTCCGGAACTGCATGCTCACCACCATCTGCTGCGGCAAGAACCCACTGGGTGACGATGAGGCCTCTGCTACCGTGTCCAAGACGGAGACGAGCCAGGTGGCCCCGGCCTAAGACCTGCCTAGGACTCTGTGGCCGACTATAGGCGTCTCCCATCCCCTACACCTTCCCCCAGCCACAGCCATCCCACCAGGAGCAGCGCCTGTGCAGAATGAACGAAGTCACATAGGCTCCTTAATTTTTTTTTTTTTTTTAAGAAATAATTAATGAGGCTCCTCACTCACCTGGGACAGCCTGAGAAGGGACATCCACCAAGACCTACTGATCTGGAGTCCCACGTTCCCCAAGGCCAGCGGGATGTGTGCCCCTCCTCCTCCCAACTCATCTTTCAGGAACACGAGGATTCTTGCTTTCTGGAAAAGTGTCCCAGCTTAGGGATAAGTGTCTAGCACAGAATGGGGCACACAGTAGGTGCTTAATAAATGCTGGATGGATGCAGGAAGGAATGGAGGAATGAATGGGAAGGGAGAACATATCTATCCTCTCAGACCCTCGCAGCAGCAGCAACTCATACTTGGCTAATGATATGGAGCAGTTGTTTTTCCCTCCCTGGGCCTCACTTTCTTCTCCTATAAAATGGAAATCCCAGATCCCTGGTCCTGCCGACACGCAGCTACTGAGAAGACCAAAAGAGGTGTGTGTGTGTCTATGTGTGTGTTTCAGCACTTTGTAAATAGCAAGAAGCTGTACAGATTCTAGTTAATGTTGTGAATAACATCAATTAATGTAACTAGTTAATTACTATGATTATCACCTCCTGATAGTGAACATTTTGAGATTGGGCATTCAGATGATGGGGTTTCACCCAACCTTGGGGCAGGTTTTTAAAAATTAGCTAGGCATCAAGGCCAGACCAGGGCTGGGGGTTGGGCTGTAGGCAGGGACAGTCACAGGAATGCAGAATGCAGTCATCAGACCTGAAAAAACAACACTGGGGGAGGGGGACGGTGAAGGCCAAGTTCCCAATGAGGGTGAGATTGGGCCTGGGGTCTCACCCCTAGTGTGGGGCCCCAGGTCCC
CAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCTCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGGTGGGCCCAGGAACCTGCATTTCCAGCAAGCCCTCCACAGGTGGCTCAGATGCTCACTCAGGTGGGAGAAGCTCCAGTCAGCTAGTTCTGGAAGCCCAATGTCAAAGTCAGAAGGACCCAAGTCGGGAATGGGATGGGCCAGTCTCCATAAAGCTGAATAAGGAGCTAAAAAGTCTTATTCTGAGGGGTAAAGGGGTAAAGGGTTCCTCGGAGAGGTACCTCCGAGGGGTAAACAGTTGGGTAAACAGTCTCTGAAGTCAGCTCTGCCATTTTCTAGCTGTATGGCCCTGGGCAAGTCAATTTCCTTCTCTGTGCTTTGGTTTCCTCATCCATAGAAAGGTAGAAAGGGCAAAACACCAAACTCTTGGATTACAAGAGATAATTTACAGAACACCCTTGGCACACAGAGGGCACCATGAAATGTCACGGGTGACACAGCCCCCTTGTGCTCAGTCCCTGGCATCTCTAGGGGTGAGGAGCGTCTGCCTAGCAGGTTCCCTCCAGGAAGCTGGATTTGAGTGGATGGGGCGCTGGAATCGTGAGGGGCAGAAGCAGGCAAAGGGTCGGGGCGAACCTCACTAACGTGCCAGTTCCAAGCACACTGTGGGCAGCCCTGGCCCTGACTCAAGCCTCTTGCCTTCCAGTTCCGGAACTGCATGCTCACCACCATCTGCTGCGGCAAGAACCCACTGGGTGACGATGAGGCCTCTGCTACCGTGTCCAAGACGGAGACGAGCCAGGTGGCCCCGGCCTAAGACCTGCCTAGGACTCTGTGGCCGACTATAGGCGTCTCCCATCCCCTACACCTTCCCCCAGCCACAGCCATCCCACCAGGAGCAGCGCCTGTGCAGAATGAACGAAGTCACATAGGCTCCTTAATTTTTTTTTTTTTTTTAAGAAATAATTAATGAGGCTCCTCACTCACCTGGGACAGCCTGAGAAGGGACATCCACCAAGACCTACTGATCTGGAGTCCCACGTTCCCCAAGGCCAGCGGGATGTGTGCCCCTCCTCCTCCCAACTCATCTTTCAGGAACACGAGGATTCTTGCTTTCTGGAAAAGTGTCCCAGCTTAGGGATAAGTGTCTAGCACAGAATGGGGCACACAGTAGGTGCTTAATAAATGCTGGATGGATGCAGGAAGGAATGGAGGAATGAATGGGAAGGGAGAACATATCTATCCTCTCAGACCCTCGCAGCAGCAGCAACTCATACTTGGCTAATGATATGGAGCAGTTGTTTTTCCCTCCCTGGGCCTCACTTTCTTCTCCTATAAAATGGAAATCCCAGATCCCTGGTCCTGCCGACACGCAGCTACTGAGAAGACCAAAAGAGGTGTGTGTGTGTCTATGTGTGTGTTTCAGCACTTTGTAAATAGCAAGAAGCTGTACAGATTCTAGTTAATGTTGTGAATAACATCAATTAATGTAACTAGTTAATTACTATGATTATCACCTCCTGATAGTGAACATTTTGAGATTGGGCATTCAGATGATGGGGTTTCACCCAACCTTGGGGCAGGTTTTTAAAAATTAGCTAGGCATCAAGGCCAGACCAGGGCTGGGGGTTGGGCTGTAGGCAGGGACAGTCACAGGAATGCAGAATGCAGTCATCAGACCTGAAAAAACAACACTGGGGGAGGGGGACGGTGAAGGCCAAGTTCCCAATGAGGGTGAGATTGGGCCTGGGGTCTCACCCCTAGTGTGGGGCCCCAGGTCCC
Task1_train_7590
The variant affects gene RHO (rhodopsin), which is on Chromosome 3. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Congenital stationary night blindness autosomal dominant 1
TCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGGTGGGCCCAGGAACCTGCATTTCCAGCAAGCCCTCCACAGGTGGCTCAGATGCTCACTCAGGTGGGAGAAGCTCCAGTCAGCTAGTTCTGGAAGCCCAATGTCAAAGTCAGAAGGACCCAAGTCGGGAATGGGATGGGCCAGTCTCCATAAAGCTGAATAAGGAGCTAAAAAGTCTTATTCTGAGGGGTAAAGGGGTAAAGGGTTCCTCGGAGAGGTACCTCCGAGGGGTAAACAGTTGGGTAAACAGTCTCTGAAGTCAGCTCTGCCATTTTCTAGCTGTATGGCCCTGGGCAAGTCAATTTCCTTCTCTGTGCTTTGGTTTCCTCATCCATAGAAAGGTAGAAAGGGCAAAACACCAAACTCTTGGATTACAAGAGATAATTTACAGAACACCCTTGGCACACAGAGGGCACCATGAAATGTCACGGGTGACACAGCCCCCTTGTGCTCAGTCCCTGGCATCTCTAGGGGTGAGGAGCGTCTGCCTAGCAGGTTCCCTCCAGGAAGCTGGATTTGAGTGGATGGGGCGCTGGAATCGTGAGGGGCAGAAGCAGGCAAAGGGTCGGGGCGAACCTCACTAACGTGCCAGTTCCAAGCACACTGTGGGCAGCCCTGGCCCTGACTCAAGCCTCTTGCCTTCCAGTTCCGGAACTGCATGCTCACCACCATCTGCTGCGGCAAGAACCCACTGGGTGACGATGAGGCCTCTGCTACCGTGTCCAAGACGGAGACGAGCCAGGTGGCCCCGGCCTAAGACCTGCCTAGGACTCTGTGGCCGACTATAGGCGTCTCCCATCCCCTACACCTTCCCCCAGCCACAGCCATCCCACCAGGAGCAGCGCCTGTGCAGAATGAACGAAGTCACATAGGCTCCTTAATTTTTTTTTTTTTTTTAAGAAATAATTAATGAGGCTCCTCACTCACCTGGGACAGCCTGAGAAGGGACATCCACCAAGACCTACTGATCTGGAGTCCCACGTTCCCCAAGGCCAGCGGGATGTGTGCCCCTCCTCCTCCCAACTCATCTTTCAGGAACACGAGGATTCTTGCTTTCTGGAAAAGTGTCCCAGCTTAGGGATAAGTGTCTAGCACAGAATGGGGCACACAGTAGGTGCTTAATAAATGCTGGATGGATGCAGGAAGGAATGGAGGAATGAATGGGAAGGGAGAACATATCTATCCTCTCAGACCCTCGCAGCAGCAGCAACTCATACTTGGCTAATGATATGGAGCAGTTGTTTTTCCCTCCCTGGGCCTCACTTTCTTCTCCTATAAAATGGAAATCCCAGATCCCTGGTCCTGCCGACACGCAGCTACTGAGAAGACCAAAAGAGGTGTGTGTGTGTCTATGTGTGTGTTTCAGCACTTTGTAAATAGCAAGAAGCTGTACAGATTCTAGTTAATGTTGTGAATAACATCAATTAATGTAACTAGTTAATTACTATGATTATCACCTCCTGATAGTGAACATTTTGAGATTGGGCATTCAGATGATGGGGTTTCACCCAACCTTGGGGCAGGTTTTTAAAAATTAGCTAGGCATCAAGGCCAGACCAGGGCTGGGGGTTGGGCTGTAGGCAGGGACAGTCACAGGAATGCAGAATGCAGTCATCAGACCTGAAAAAACAACACTGGGGGAGGGGGACGGTGAAGGCCAAGTTCCCAATGAGGGTGAGATTGGGCCTGGGGTCTCACCCCTAGTGTGGGGCCCCAGGTCCCGTGCCTCCCCTTCCCAATGTGGCCTATGGAGAGACAGGCCTTTCTCTCAGCCTCTGGAAGCCACCTGCTCTTTTG
TCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGAGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGGTGGGCCCAGGAACCTGCATTTCCAGCAAGCCCTCCACAGGTGGCTCAGATGCTCACTCAGGTGGGAGAAGCTCCAGTCAGCTAGTTCTGGAAGCCCAATGTCAAAGTCAGAAGGACCCAAGTCGGGAATGGGATGGGCCAGTCTCCATAAAGCTGAATAAGGAGCTAAAAAGTCTTATTCTGAGGGGTAAAGGGGTAAAGGGTTCCTCGGAGAGGTACCTCCGAGGGGTAAACAGTTGGGTAAACAGTCTCTGAAGTCAGCTCTGCCATTTTCTAGCTGTATGGCCCTGGGCAAGTCAATTTCCTTCTCTGTGCTTTGGTTTCCTCATCCATAGAAAGGTAGAAAGGGCAAAACACCAAACTCTTGGATTACAAGAGATAATTTACAGAACACCCTTGGCACACAGAGGGCACCATGAAATGTCACGGGTGACACAGCCCCCTTGTGCTCAGTCCCTGGCATCTCTAGGGGTGAGGAGCGTCTGCCTAGCAGGTTCCCTCCAGGAAGCTGGATTTGAGTGGATGGGGCGCTGGAATCGTGAGGGGCAGAAGCAGGCAAAGGGTCGGGGCGAACCTCACTAACGTGCCAGTTCCAAGCACACTGTGGGCAGCCCTGGCCCTGACTCAAGCCTCTTGCCTTCCAGTTCCGGAACTGCATGCTCACCACCATCTGCTGCGGCAAGAACCCACTGGGTGACGATGAGGCCTCTGCTACCGTGTCCAAGACGGAGACGAGCCAGGTGGCCCCGGCCTAAGACCTGCCTAGGACTCTGTGGCCGACTATAGGCGTCTCCCATCCCCTACACCTTCCCCCAGCCACAGCCATCCCACCAGGAGCAGCGCCTGTGCAGAATGAACGAAGTCACATAGGCTCCTTAATTTTTTTTTTTTTTTTAAGAAATAATTAATGAGGCTCCTCACTCACCTGGGACAGCCTGAGAAGGGACATCCACCAAGACCTACTGATCTGGAGTCCCACGTTCCCCAAGGCCAGCGGGATGTGTGCCCCTCCTCCTCCCAACTCATCTTTCAGGAACACGAGGATTCTTGCTTTCTGGAAAAGTGTCCCAGCTTAGGGATAAGTGTCTAGCACAGAATGGGGCACACAGTAGGTGCTTAATAAATGCTGGATGGATGCAGGAAGGAATGGAGGAATGAATGGGAAGGGAGAACATATCTATCCTCTCAGACCCTCGCAGCAGCAGCAACTCATACTTGGCTAATGATATGGAGCAGTTGTTTTTCCCTCCCTGGGCCTCACTTTCTTCTCCTATAAAATGGAAATCCCAGATCCCTGGTCCTGCCGACACGCAGCTACTGAGAAGACCAAAAGAGGTGTGTGTGTGTCTATGTGTGTGTTTCAGCACTTTGTAAATAGCAAGAAGCTGTACAGATTCTAGTTAATGTTGTGAATAACATCAATTAATGTAACTAGTTAATTACTATGATTATCACCTCCTGATAGTGAACATTTTGAGATTGGGCATTCAGATGATGGGGTTTCACCCAACCTTGGGGCAGGTTTTTAAAAATTAGCTAGGCATCAAGGCCAGACCAGGGCTGGGGGTTGGGCTGTAGGCAGGGACAGTCACAGGAATGCAGAATGCAGTCATCAGACCTGAAAAAACAACACTGGGGGAGGGGGACGGTGAAGGCCAAGTTCCCAATGAGGGTGAGATTGGGCCTGGGGTCTCACCCCTAGTGTGGGGCCCCAGGTCCCGTGCCTCCCCTTCCCAATGTGGCCTATGGAGAGACAGGCCTTTCTCTCAGCCTCTGGAAGCCACCTGCTCTTTTG
Task1_train_7591
This is a variant in RHO (rhodopsin), located on Chromosome 3. Is this mutation a likely cause of disease or not?
Pathogenic; Retinitis pigmentosa 4
TCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGGTGGGCCCAGGAACCTGCATTTCCAGCAAGCCCTCCACAGGTGGCTCAGATGCTCACTCAGGTGGGAGAAGCTCCAGTCAGCTAGTTCTGGAAGCCCAATGTCAAAGTCAGAAGGACCCAAGTCGGGAATGGGATGGGCCAGTCTCCATAAAGCTGAATAAGGAGCTAAAAAGTCTTATTCTGAGGGGTAAAGGGGTAAAGGGTTCCTCGGAGAGGTACCTCCGAGGGGTAAACAGTTGGGTAAACAGTCTCTGAAGTCAGCTCTGCCATTTTCTAGCTGTATGGCCCTGGGCAAGTCAATTTCCTTCTCTGTGCTTTGGTTTCCTCATCCATAGAAAGGTAGAAAGGGCAAAACACCAAACTCTTGGATTACAAGAGATAATTTACAGAACACCCTTGGCACACAGAGGGCACCATGAAATGTCACGGGTGACACAGCCCCCTTGTGCTCAGTCCCTGGCATCTCTAGGGGTGAGGAGCGTCTGCCTAGCAGGTTCCCTCCAGGAAGCTGGATTTGAGTGGATGGGGCGCTGGAATCGTGAGGGGCAGAAGCAGGCAAAGGGTCGGGGCGAACCTCACTAACGTGCCAGTTCCAAGCACACTGTGGGCAGCCCTGGCCCTGACTCAAGCCTCTTGCCTTCCAGTTCCGGAACTGCATGCTCACCACCATCTGCTGCGGCAAGAACCCACTGGGTGACGATGAGGCCTCTGCTACCGTGTCCAAGACGGAGACGAGCCAGGTGGCCCCGGCCTAAGACCTGCCTAGGACTCTGTGGCCGACTATAGGCGTCTCCCATCCCCTACACCTTCCCCCAGCCACAGCCATCCCACCAGGAGCAGCGCCTGTGCAGAATGAACGAAGTCACATAGGCTCCTTAATTTTTTTTTTTTTTTTAAGAAATAATTAATGAGGCTCCTCACTCACCTGGGACAGCCTGAGAAGGGACATCCACCAAGACCTACTGATCTGGAGTCCCACGTTCCCCAAGGCCAGCGGGATGTGTGCCCCTCCTCCTCCCAACTCATCTTTCAGGAACACGAGGATTCTTGCTTTCTGGAAAAGTGTCCCAGCTTAGGGATAAGTGTCTAGCACAGAATGGGGCACACAGTAGGTGCTTAATAAATGCTGGATGGATGCAGGAAGGAATGGAGGAATGAATGGGAAGGGAGAACATATCTATCCTCTCAGACCCTCGCAGCAGCAGCAACTCATACTTGGCTAATGATATGGAGCAGTTGTTTTTCCCTCCCTGGGCCTCACTTTCTTCTCCTATAAAATGGAAATCCCAGATCCCTGGTCCTGCCGACACGCAGCTACTGAGAAGACCAAAAGAGGTGTGTGTGTGTCTATGTGTGTGTTTCAGCACTTTGTAAATAGCAAGAAGCTGTACAGATTCTAGTTAATGTTGTGAATAACATCAATTAATGTAACTAGTTAATTACTATGATTATCACCTCCTGATAGTGAACATTTTGAGATTGGGCATTCAGATGATGGGGTTTCACCCAACCTTGGGGCAGGTTTTTAAAAATTAGCTAGGCATCAAGGCCAGACCAGGGCTGGGGGTTGGGCTGTAGGCAGGGACAGTCACAGGAATGCAGAATGCAGTCATCAGACCTGAAAAAACAACACTGGGGGAGGGGGACGGTGAAGGCCAAGTTCCCAATGAGGGTGAGATTGGGCCTGGGGTCTCACCCCTAGTGTGGGGCCCCAGGTCCCGTGCCTCCCCTTCCCAATGTGGCCTATGGAGAGACAGGCCTTTCTCTCAGCCTCTGGAAGCCACCTGCTCTTTTGCTCTAGCACCT
TCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCGAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGGTGGGCCCAGGAACCTGCATTTCCAGCAAGCCCTCCACAGGTGGCTCAGATGCTCACTCAGGTGGGAGAAGCTCCAGTCAGCTAGTTCTGGAAGCCCAATGTCAAAGTCAGAAGGACCCAAGTCGGGAATGGGATGGGCCAGTCTCCATAAAGCTGAATAAGGAGCTAAAAAGTCTTATTCTGAGGGGTAAAGGGGTAAAGGGTTCCTCGGAGAGGTACCTCCGAGGGGTAAACAGTTGGGTAAACAGTCTCTGAAGTCAGCTCTGCCATTTTCTAGCTGTATGGCCCTGGGCAAGTCAATTTCCTTCTCTGTGCTTTGGTTTCCTCATCCATAGAAAGGTAGAAAGGGCAAAACACCAAACTCTTGGATTACAAGAGATAATTTACAGAACACCCTTGGCACACAGAGGGCACCATGAAATGTCACGGGTGACACAGCCCCCTTGTGCTCAGTCCCTGGCATCTCTAGGGGTGAGGAGCGTCTGCCTAGCAGGTTCCCTCCAGGAAGCTGGATTTGAGTGGATGGGGCGCTGGAATCGTGAGGGGCAGAAGCAGGCAAAGGGTCGGGGCGAACCTCACTAACGTGCCAGTTCCAAGCACACTGTGGGCAGCCCTGGCCCTGACTCAAGCCTCTTGCCTTCCAGTTCCGGAACTGCATGCTCACCACCATCTGCTGCGGCAAGAACCCACTGGGTGACGATGAGGCCTCTGCTACCGTGTCCAAGACGGAGACGAGCCAGGTGGCCCCGGCCTAAGACCTGCCTAGGACTCTGTGGCCGACTATAGGCGTCTCCCATCCCCTACACCTTCCCCCAGCCACAGCCATCCCACCAGGAGCAGCGCCTGTGCAGAATGAACGAAGTCACATAGGCTCCTTAATTTTTTTTTTTTTTTTAAGAAATAATTAATGAGGCTCCTCACTCACCTGGGACAGCCTGAGAAGGGACATCCACCAAGACCTACTGATCTGGAGTCCCACGTTCCCCAAGGCCAGCGGGATGTGTGCCCCTCCTCCTCCCAACTCATCTTTCAGGAACACGAGGATTCTTGCTTTCTGGAAAAGTGTCCCAGCTTAGGGATAAGTGTCTAGCACAGAATGGGGCACACAGTAGGTGCTTAATAAATGCTGGATGGATGCAGGAAGGAATGGAGGAATGAATGGGAAGGGAGAACATATCTATCCTCTCAGACCCTCGCAGCAGCAGCAACTCATACTTGGCTAATGATATGGAGCAGTTGTTTTTCCCTCCCTGGGCCTCACTTTCTTCTCCTATAAAATGGAAATCCCAGATCCCTGGTCCTGCCGACACGCAGCTACTGAGAAGACCAAAAGAGGTGTGTGTGTGTCTATGTGTGTGTTTCAGCACTTTGTAAATAGCAAGAAGCTGTACAGATTCTAGTTAATGTTGTGAATAACATCAATTAATGTAACTAGTTAATTACTATGATTATCACCTCCTGATAGTGAACATTTTGAGATTGGGCATTCAGATGATGGGGTTTCACCCAACCTTGGGGCAGGTTTTTAAAAATTAGCTAGGCATCAAGGCCAGACCAGGGCTGGGGGTTGGGCTGTAGGCAGGGACAGTCACAGGAATGCAGAATGCAGTCATCAGACCTGAAAAAACAACACTGGGGGAGGGGGACGGTGAAGGCCAAGTTCCCAATGAGGGTGAGATTGGGCCTGGGGTCTCACCCCTAGTGTGGGGCCCCAGGTCCCGTGCCTCCCCTTCCCAATGTGGCCTATGGAGAGACAGGCCTTTCTCTCAGCCTCTGGAAGCCACCTGCTCTTTTGCTCTAGCACCT
Task1_train_7592
Gene RHO (rhodopsin) on Chromosome 3 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Retinal dystrophy
TTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGGTGGGCCCAGGAACCTGCATTTCCAGCAAGCCCTCCACAGGTGGCTCAGATGCTCACTCAGGTGGGAGAAGCTCCAGTCAGCTAGTTCTGGAAGCCCAATGTCAAAGTCAGAAGGACCCAAGTCGGGAATGGGATGGGCCAGTCTCCATAAAGCTGAATAAGGAGCTAAAAAGTCTTATTCTGAGGGGTAAAGGGGTAAAGGGTTCCTCGGAGAGGTACCTCCGAGGGGTAAACAGTTGGGTAAACAGTCTCTGAAGTCAGCTCTGCCATTTTCTAGCTGTATGGCCCTGGGCAAGTCAATTTCCTTCTCTGTGCTTTGGTTTCCTCATCCATAGAAAGGTAGAAAGGGCAAAACACCAAACTCTTGGATTACAAGAGATAATTTACAGAACACCCTTGGCACACAGAGGGCACCATGAAATGTCACGGGTGACACAGCCCCCTTGTGCTCAGTCCCTGGCATCTCTAGGGGTGAGGAGCGTCTGCCTAGCAGGTTCCCTCCAGGAAGCTGGATTTGAGTGGATGGGGCGCTGGAATCGTGAGGGGCAGAAGCAGGCAAAGGGTCGGGGCGAACCTCACTAACGTGCCAGTTCCAAGCACACTGTGGGCAGCCCTGGCCCTGACTCAAGCCTCTTGCCTTCCAGTTCCGGAACTGCATGCTCACCACCATCTGCTGCGGCAAGAACCCACTGGGTGACGATGAGGCCTCTGCTACCGTGTCCAAGACGGAGACGAGCCAGGTGGCCCCGGCCTAAGACCTGCCTAGGACTCTGTGGCCGACTATAGGCGTCTCCCATCCCCTACACCTTCCCCCAGCCACAGCCATCCCACCAGGAGCAGCGCCTGTGCAGAATGAACGAAGTCACATAGGCTCCTTAATTTTTTTTTTTTTTTTAAGAAATAATTAATGAGGCTCCTCACTCACCTGGGACAGCCTGAGAAGGGACATCCACCAAGACCTACTGATCTGGAGTCCCACGTTCCCCAAGGCCAGCGGGATGTGTGCCCCTCCTCCTCCCAACTCATCTTTCAGGAACACGAGGATTCTTGCTTTCTGGAAAAGTGTCCCAGCTTAGGGATAAGTGTCTAGCACAGAATGGGGCACACAGTAGGTGCTTAATAAATGCTGGATGGATGCAGGAAGGAATGGAGGAATGAATGGGAAGGGAGAACATATCTATCCTCTCAGACCCTCGCAGCAGCAGCAACTCATACTTGGCTAATGATATGGAGCAGTTGTTTTTCCCTCCCTGGGCCTCACTTTCTTCTCCTATAAAATGGAAATCCCAGATCCCTGGTCCTGCCGACACGCAGCTACTGAGAAGACCAAAAGAGGTGTGTGTGTGTCTATGTGTGTGTTTCAGCACTTTGTAAATAGCAAGAAGCTGTACAGATTCTAGTTAATGTTGTGAATAACATCAATTAATGTAACTAGTTAATTACTATGATTATCACCTCCTGATAGTGAACATTTTGAGATTGGGCATTCAGATGATGGGGTTTCACCCAACCTTGGGGCAGGTTTTTAAAAATTAGCTAGGCATCAAGGCCAGACCAGGGCTGGGGGTTGGGCTGTAGGCAGGGACAGTCACAGGAATGCAGAATGCAGTCATCAGACCTGAAAAAACAACACTGGGGGAGGGGGACGGTGAAGGCCAAGTTCCCAATGAGGGTGAGATTGGGCCTGGGGTCTCACCCCTAGTGTGGGGCCCCAGGTCCCGTGCCTCCCCTTCCCAATGTGGCCTATGGAGAGACAGGCCTTTCTCTCAGCCTCTGGAAGCCACCTGCTCTTTTGCTCTAGCACCTGG
TTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAACAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGGTGGGCCCAGGAACCTGCATTTCCAGCAAGCCCTCCACAGGTGGCTCAGATGCTCACTCAGGTGGGAGAAGCTCCAGTCAGCTAGTTCTGGAAGCCCAATGTCAAAGTCAGAAGGACCCAAGTCGGGAATGGGATGGGCCAGTCTCCATAAAGCTGAATAAGGAGCTAAAAAGTCTTATTCTGAGGGGTAAAGGGGTAAAGGGTTCCTCGGAGAGGTACCTCCGAGGGGTAAACAGTTGGGTAAACAGTCTCTGAAGTCAGCTCTGCCATTTTCTAGCTGTATGGCCCTGGGCAAGTCAATTTCCTTCTCTGTGCTTTGGTTTCCTCATCCATAGAAAGGTAGAAAGGGCAAAACACCAAACTCTTGGATTACAAGAGATAATTTACAGAACACCCTTGGCACACAGAGGGCACCATGAAATGTCACGGGTGACACAGCCCCCTTGTGCTCAGTCCCTGGCATCTCTAGGGGTGAGGAGCGTCTGCCTAGCAGGTTCCCTCCAGGAAGCTGGATTTGAGTGGATGGGGCGCTGGAATCGTGAGGGGCAGAAGCAGGCAAAGGGTCGGGGCGAACCTCACTAACGTGCCAGTTCCAAGCACACTGTGGGCAGCCCTGGCCCTGACTCAAGCCTCTTGCCTTCCAGTTCCGGAACTGCATGCTCACCACCATCTGCTGCGGCAAGAACCCACTGGGTGACGATGAGGCCTCTGCTACCGTGTCCAAGACGGAGACGAGCCAGGTGGCCCCGGCCTAAGACCTGCCTAGGACTCTGTGGCCGACTATAGGCGTCTCCCATCCCCTACACCTTCCCCCAGCCACAGCCATCCCACCAGGAGCAGCGCCTGTGCAGAATGAACGAAGTCACATAGGCTCCTTAATTTTTTTTTTTTTTTTAAGAAATAATTAATGAGGCTCCTCACTCACCTGGGACAGCCTGAGAAGGGACATCCACCAAGACCTACTGATCTGGAGTCCCACGTTCCCCAAGGCCAGCGGGATGTGTGCCCCTCCTCCTCCCAACTCATCTTTCAGGAACACGAGGATTCTTGCTTTCTGGAAAAGTGTCCCAGCTTAGGGATAAGTGTCTAGCACAGAATGGGGCACACAGTAGGTGCTTAATAAATGCTGGATGGATGCAGGAAGGAATGGAGGAATGAATGGGAAGGGAGAACATATCTATCCTCTCAGACCCTCGCAGCAGCAGCAACTCATACTTGGCTAATGATATGGAGCAGTTGTTTTTCCCTCCCTGGGCCTCACTTTCTTCTCCTATAAAATGGAAATCCCAGATCCCTGGTCCTGCCGACACGCAGCTACTGAGAAGACCAAAAGAGGTGTGTGTGTGTCTATGTGTGTGTTTCAGCACTTTGTAAATAGCAAGAAGCTGTACAGATTCTAGTTAATGTTGTGAATAACATCAATTAATGTAACTAGTTAATTACTATGATTATCACCTCCTGATAGTGAACATTTTGAGATTGGGCATTCAGATGATGGGGTTTCACCCAACCTTGGGGCAGGTTTTTAAAAATTAGCTAGGCATCAAGGCCAGACCAGGGCTGGGGGTTGGGCTGTAGGCAGGGACAGTCACAGGAATGCAGAATGCAGTCATCAGACCTGAAAAAACAACACTGGGGGAGGGGGACGGTGAAGGCCAAGTTCCCAATGAGGGTGAGATTGGGCCTGGGGTCTCACCCCTAGTGTGGGGCCCCAGGTCCCGTGCCTCCCCTTCCCAATGTGGCCTATGGAGAGACAGGCCTTTCTCTCAGCCTCTGGAAGCCACCTGCTCTTTTGCTCTAGCACCTGG
Task1_train_7593
This alteration occurs within gene RHO (rhodopsin) located on Chromosome 3. Is it associated with a disease or is it a benign variant?
Pathogenic; Retinitis pigmentosa 4
TTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGGTGGGCCCAGGAACCTGCATTTCCAGCAAGCCCTCCACAGGTGGCTCAGATGCTCACTCAGGTGGGAGAAGCTCCAGTCAGCTAGTTCTGGAAGCCCAATGTCAAAGTCAGAAGGACCCAAGTCGGGAATGGGATGGGCCAGTCTCCATAAAGCTGAATAAGGAGCTAAAAAGTCTTATTCTGAGGGGTAAAGGGGTAAAGGGTTCCTCGGAGAGGTACCTCCGAGGGGTAAACAGTTGGGTAAACAGTCTCTGAAGTCAGCTCTGCCATTTTCTAGCTGTATGGCCCTGGGCAAGTCAATTTCCTTCTCTGTGCTTTGGTTTCCTCATCCATAGAAAGGTAGAAAGGGCAAAACACCAAACTCTTGGATTACAAGAGATAATTTACAGAACACCCTTGGCACACAGAGGGCACCATGAAATGTCACGGGTGACACAGCCCCCTTGTGCTCAGTCCCTGGCATCTCTAGGGGTGAGGAGCGTCTGCCTAGCAGGTTCCCTCCAGGAAGCTGGATTTGAGTGGATGGGGCGCTGGAATCGTGAGGGGCAGAAGCAGGCAAAGGGTCGGGGCGAACCTCACTAACGTGCCAGTTCCAAGCACACTGTGGGCAGCCCTGGCCCTGACTCAAGCCTCTTGCCTTCCAGTTCCGGAACTGCATGCTCACCACCATCTGCTGCGGCAAGAACCCACTGGGTGACGATGAGGCCTCTGCTACCGTGTCCAAGACGGAGACGAGCCAGGTGGCCCCGGCCTAAGACCTGCCTAGGACTCTGTGGCCGACTATAGGCGTCTCCCATCCCCTACACCTTCCCCCAGCCACAGCCATCCCACCAGGAGCAGCGCCTGTGCAGAATGAACGAAGTCACATAGGCTCCTTAATTTTTTTTTTTTTTTTAAGAAATAATTAATGAGGCTCCTCACTCACCTGGGACAGCCTGAGAAGGGACATCCACCAAGACCTACTGATCTGGAGTCCCACGTTCCCCAAGGCCAGCGGGATGTGTGCCCCTCCTCCTCCCAACTCATCTTTCAGGAACACGAGGATTCTTGCTTTCTGGAAAAGTGTCCCAGCTTAGGGATAAGTGTCTAGCACAGAATGGGGCACACAGTAGGTGCTTAATAAATGCTGGATGGATGCAGGAAGGAATGGAGGAATGAATGGGAAGGGAGAACATATCTATCCTCTCAGACCCTCGCAGCAGCAGCAACTCATACTTGGCTAATGATATGGAGCAGTTGTTTTTCCCTCCCTGGGCCTCACTTTCTTCTCCTATAAAATGGAAATCCCAGATCCCTGGTCCTGCCGACACGCAGCTACTGAGAAGACCAAAAGAGGTGTGTGTGTGTCTATGTGTGTGTTTCAGCACTTTGTAAATAGCAAGAAGCTGTACAGATTCTAGTTAATGTTGTGAATAACATCAATTAATGTAACTAGTTAATTACTATGATTATCACCTCCTGATAGTGAACATTTTGAGATTGGGCATTCAGATGATGGGGTTTCACCCAACCTTGGGGCAGGTTTTTAAAAATTAGCTAGGCATCAAGGCCAGACCAGGGCTGGGGGTTGGGCTGTAGGCAGGGACAGTCACAGGAATGCAGAATGCAGTCATCAGACCTGAAAAAACAACACTGGGGGAGGGGGACGGTGAAGGCCAAGTTCCCAATGAGGGTGAGATTGGGCCTGGGGTCTCACCCCTAGTGTGGGGCCCCAGGTCCCGTGCCTCCCCTTCCCAATGTGGCCTATGGAGAGACAGGCCTTTCTCTCAGCCTCTGGAAGCCACCTGCTCTTTTGCTCTAGCACCTGG
TTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAACAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGGTGGGCCCAGGAACCTGCATTTCCAGCAAGCCCTCCACAGGTGGCTCAGATGCTCACTCAGGTGGGAGAAGCTCCAGTCAGCTAGTTCTGGAAGCCCAATGTCAAAGTCAGAAGGACCCAAGTCGGGAATGGGATGGGCCAGTCTCCATAAAGCTGAATAAGGAGCTAAAAAGTCTTATTCTGAGGGGTAAAGGGGTAAAGGGTTCCTCGGAGAGGTACCTCCGAGGGGTAAACAGTTGGGTAAACAGTCTCTGAAGTCAGCTCTGCCATTTTCTAGCTGTATGGCCCTGGGCAAGTCAATTTCCTTCTCTGTGCTTTGGTTTCCTCATCCATAGAAAGGTAGAAAGGGCAAAACACCAAACTCTTGGATTACAAGAGATAATTTACAGAACACCCTTGGCACACAGAGGGCACCATGAAATGTCACGGGTGACACAGCCCCCTTGTGCTCAGTCCCTGGCATCTCTAGGGGTGAGGAGCGTCTGCCTAGCAGGTTCCCTCCAGGAAGCTGGATTTGAGTGGATGGGGCGCTGGAATCGTGAGGGGCAGAAGCAGGCAAAGGGTCGGGGCGAACCTCACTAACGTGCCAGTTCCAAGCACACTGTGGGCAGCCCTGGCCCTGACTCAAGCCTCTTGCCTTCCAGTTCCGGAACTGCATGCTCACCACCATCTGCTGCGGCAAGAACCCACTGGGTGACGATGAGGCCTCTGCTACCGTGTCCAAGACGGAGACGAGCCAGGTGGCCCCGGCCTAAGACCTGCCTAGGACTCTGTGGCCGACTATAGGCGTCTCCCATCCCCTACACCTTCCCCCAGCCACAGCCATCCCACCAGGAGCAGCGCCTGTGCAGAATGAACGAAGTCACATAGGCTCCTTAATTTTTTTTTTTTTTTTAAGAAATAATTAATGAGGCTCCTCACTCACCTGGGACAGCCTGAGAAGGGACATCCACCAAGACCTACTGATCTGGAGTCCCACGTTCCCCAAGGCCAGCGGGATGTGTGCCCCTCCTCCTCCCAACTCATCTTTCAGGAACACGAGGATTCTTGCTTTCTGGAAAAGTGTCCCAGCTTAGGGATAAGTGTCTAGCACAGAATGGGGCACACAGTAGGTGCTTAATAAATGCTGGATGGATGCAGGAAGGAATGGAGGAATGAATGGGAAGGGAGAACATATCTATCCTCTCAGACCCTCGCAGCAGCAGCAACTCATACTTGGCTAATGATATGGAGCAGTTGTTTTTCCCTCCCTGGGCCTCACTTTCTTCTCCTATAAAATGGAAATCCCAGATCCCTGGTCCTGCCGACACGCAGCTACTGAGAAGACCAAAAGAGGTGTGTGTGTGTCTATGTGTGTGTTTCAGCACTTTGTAAATAGCAAGAAGCTGTACAGATTCTAGTTAATGTTGTGAATAACATCAATTAATGTAACTAGTTAATTACTATGATTATCACCTCCTGATAGTGAACATTTTGAGATTGGGCATTCAGATGATGGGGTTTCACCCAACCTTGGGGCAGGTTTTTAAAAATTAGCTAGGCATCAAGGCCAGACCAGGGCTGGGGGTTGGGCTGTAGGCAGGGACAGTCACAGGAATGCAGAATGCAGTCATCAGACCTGAAAAAACAACACTGGGGGAGGGGGACGGTGAAGGCCAAGTTCCCAATGAGGGTGAGATTGGGCCTGGGGTCTCACCCCTAGTGTGGGGCCCCAGGTCCCGTGCCTCCCCTTCCCAATGTGGCCTATGGAGAGACAGGCCTTTCTCTCAGCCTCTGGAAGCCACCTGCTCTTTTGCTCTAGCACCTGG
Task1_train_7594
A variant affecting Chromosome 3, within the gene RHO (rhodopsin), has been observed. Determine if it's benign or associated with disease.
Pathogenic; not provided
TTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGGTGGGCCCAGGAACCTGCATTTCCAGCAAGCCCTCCACAGGTGGCTCAGATGCTCACTCAGGTGGGAGAAGCTCCAGTCAGCTAGTTCTGGAAGCCCAATGTCAAAGTCAGAAGGACCCAAGTCGGGAATGGGATGGGCCAGTCTCCATAAAGCTGAATAAGGAGCTAAAAAGTCTTATTCTGAGGGGTAAAGGGGTAAAGGGTTCCTCGGAGAGGTACCTCCGAGGGGTAAACAGTTGGGTAAACAGTCTCTGAAGTCAGCTCTGCCATTTTCTAGCTGTATGGCCCTGGGCAAGTCAATTTCCTTCTCTGTGCTTTGGTTTCCTCATCCATAGAAAGGTAGAAAGGGCAAAACACCAAACTCTTGGATTACAAGAGATAATTTACAGAACACCCTTGGCACACAGAGGGCACCATGAAATGTCACGGGTGACACAGCCCCCTTGTGCTCAGTCCCTGGCATCTCTAGGGGTGAGGAGCGTCTGCCTAGCAGGTTCCCTCCAGGAAGCTGGATTTGAGTGGATGGGGCGCTGGAATCGTGAGGGGCAGAAGCAGGCAAAGGGTCGGGGCGAACCTCACTAACGTGCCAGTTCCAAGCACACTGTGGGCAGCCCTGGCCCTGACTCAAGCCTCTTGCCTTCCAGTTCCGGAACTGCATGCTCACCACCATCTGCTGCGGCAAGAACCCACTGGGTGACGATGAGGCCTCTGCTACCGTGTCCAAGACGGAGACGAGCCAGGTGGCCCCGGCCTAAGACCTGCCTAGGACTCTGTGGCCGACTATAGGCGTCTCCCATCCCCTACACCTTCCCCCAGCCACAGCCATCCCACCAGGAGCAGCGCCTGTGCAGAATGAACGAAGTCACATAGGCTCCTTAATTTTTTTTTTTTTTTTAAGAAATAATTAATGAGGCTCCTCACTCACCTGGGACAGCCTGAGAAGGGACATCCACCAAGACCTACTGATCTGGAGTCCCACGTTCCCCAAGGCCAGCGGGATGTGTGCCCCTCCTCCTCCCAACTCATCTTTCAGGAACACGAGGATTCTTGCTTTCTGGAAAAGTGTCCCAGCTTAGGGATAAGTGTCTAGCACAGAATGGGGCACACAGTAGGTGCTTAATAAATGCTGGATGGATGCAGGAAGGAATGGAGGAATGAATGGGAAGGGAGAACATATCTATCCTCTCAGACCCTCGCAGCAGCAGCAACTCATACTTGGCTAATGATATGGAGCAGTTGTTTTTCCCTCCCTGGGCCTCACTTTCTTCTCCTATAAAATGGAAATCCCAGATCCCTGGTCCTGCCGACACGCAGCTACTGAGAAGACCAAAAGAGGTGTGTGTGTGTCTATGTGTGTGTTTCAGCACTTTGTAAATAGCAAGAAGCTGTACAGATTCTAGTTAATGTTGTGAATAACATCAATTAATGTAACTAGTTAATTACTATGATTATCACCTCCTGATAGTGAACATTTTGAGATTGGGCATTCAGATGATGGGGTTTCACCCAACCTTGGGGCAGGTTTTTAAAAATTAGCTAGGCATCAAGGCCAGACCAGGGCTGGGGGTTGGGCTGTAGGCAGGGACAGTCACAGGAATGCAGAATGCAGTCATCAGACCTGAAAAAACAACACTGGGGGAGGGGGACGGTGAAGGCCAAGTTCCCAATGAGGGTGAGATTGGGCCTGGGGTCTCACCCCTAGTGTGGGGCCCCAGGTCCCGTGCCTCCCCTTCCCAATGTGGCCTATGGAGAGACAGGCCTTTCTCTCAGCCTCTGGAAGCCACCTGCTCTTTTGCTCTAGCACCTGGG
TTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGCGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGGTGGGCCCAGGAACCTGCATTTCCAGCAAGCCCTCCACAGGTGGCTCAGATGCTCACTCAGGTGGGAGAAGCTCCAGTCAGCTAGTTCTGGAAGCCCAATGTCAAAGTCAGAAGGACCCAAGTCGGGAATGGGATGGGCCAGTCTCCATAAAGCTGAATAAGGAGCTAAAAAGTCTTATTCTGAGGGGTAAAGGGGTAAAGGGTTCCTCGGAGAGGTACCTCCGAGGGGTAAACAGTTGGGTAAACAGTCTCTGAAGTCAGCTCTGCCATTTTCTAGCTGTATGGCCCTGGGCAAGTCAATTTCCTTCTCTGTGCTTTGGTTTCCTCATCCATAGAAAGGTAGAAAGGGCAAAACACCAAACTCTTGGATTACAAGAGATAATTTACAGAACACCCTTGGCACACAGAGGGCACCATGAAATGTCACGGGTGACACAGCCCCCTTGTGCTCAGTCCCTGGCATCTCTAGGGGTGAGGAGCGTCTGCCTAGCAGGTTCCCTCCAGGAAGCTGGATTTGAGTGGATGGGGCGCTGGAATCGTGAGGGGCAGAAGCAGGCAAAGGGTCGGGGCGAACCTCACTAACGTGCCAGTTCCAAGCACACTGTGGGCAGCCCTGGCCCTGACTCAAGCCTCTTGCCTTCCAGTTCCGGAACTGCATGCTCACCACCATCTGCTGCGGCAAGAACCCACTGGGTGACGATGAGGCCTCTGCTACCGTGTCCAAGACGGAGACGAGCCAGGTGGCCCCGGCCTAAGACCTGCCTAGGACTCTGTGGCCGACTATAGGCGTCTCCCATCCCCTACACCTTCCCCCAGCCACAGCCATCCCACCAGGAGCAGCGCCTGTGCAGAATGAACGAAGTCACATAGGCTCCTTAATTTTTTTTTTTTTTTTAAGAAATAATTAATGAGGCTCCTCACTCACCTGGGACAGCCTGAGAAGGGACATCCACCAAGACCTACTGATCTGGAGTCCCACGTTCCCCAAGGCCAGCGGGATGTGTGCCCCTCCTCCTCCCAACTCATCTTTCAGGAACACGAGGATTCTTGCTTTCTGGAAAAGTGTCCCAGCTTAGGGATAAGTGTCTAGCACAGAATGGGGCACACAGTAGGTGCTTAATAAATGCTGGATGGATGCAGGAAGGAATGGAGGAATGAATGGGAAGGGAGAACATATCTATCCTCTCAGACCCTCGCAGCAGCAGCAACTCATACTTGGCTAATGATATGGAGCAGTTGTTTTTCCCTCCCTGGGCCTCACTTTCTTCTCCTATAAAATGGAAATCCCAGATCCCTGGTCCTGCCGACACGCAGCTACTGAGAAGACCAAAAGAGGTGTGTGTGTGTCTATGTGTGTGTTTCAGCACTTTGTAAATAGCAAGAAGCTGTACAGATTCTAGTTAATGTTGTGAATAACATCAATTAATGTAACTAGTTAATTACTATGATTATCACCTCCTGATAGTGAACATTTTGAGATTGGGCATTCAGATGATGGGGTTTCACCCAACCTTGGGGCAGGTTTTTAAAAATTAGCTAGGCATCAAGGCCAGACCAGGGCTGGGGGTTGGGCTGTAGGCAGGGACAGTCACAGGAATGCAGAATGCAGTCATCAGACCTGAAAAAACAACACTGGGGGAGGGGGACGGTGAAGGCCAAGTTCCCAATGAGGGTGAGATTGGGCCTGGGGTCTCACCCCTAGTGTGGGGCCCCAGGTCCCGTGCCTCCCCTTCCCAATGTGGCCTATGGAGAGACAGGCCTTTCTCTCAGCCTCTGGAAGCCACCTGCTCTTTTGCTCTAGCACCTGGG
Task1_train_7595
This alteration occurs within gene RHO (rhodopsin) located on Chromosome 3. Is it associated with a disease or is it a benign variant?
Pathogenic; Exudative retinopathy
GCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGGTGGGCCCAGGAACCTGCATTTCCAGCAAGCCCTCCACAGGTGGCTCAGATGCTCACTCAGGTGGGAGAAGCTCCAGTCAGCTAGTTCTGGAAGCCCAATGTCAAAGTCAGAAGGACCCAAGTCGGGAATGGGATGGGCCAGTCTCCATAAAGCTGAATAAGGAGCTAAAAAGTCTTATTCTGAGGGGTAAAGGGGTAAAGGGTTCCTCGGAGAGGTACCTCCGAGGGGTAAACAGTTGGGTAAACAGTCTCTGAAGTCAGCTCTGCCATTTTCTAGCTGTATGGCCCTGGGCAAGTCAATTTCCTTCTCTGTGCTTTGGTTTCCTCATCCATAGAAAGGTAGAAAGGGCAAAACACCAAACTCTTGGATTACAAGAGATAATTTACAGAACACCCTTGGCACACAGAGGGCACCATGAAATGTCACGGGTGACACAGCCCCCTTGTGCTCAGTCCCTGGCATCTCTAGGGGTGAGGAGCGTCTGCCTAGCAGGTTCCCTCCAGGAAGCTGGATTTGAGTGGATGGGGCGCTGGAATCGTGAGGGGCAGAAGCAGGCAAAGGGTCGGGGCGAACCTCACTAACGTGCCAGTTCCAAGCACACTGTGGGCAGCCCTGGCCCTGACTCAAGCCTCTTGCCTTCCAGTTCCGGAACTGCATGCTCACCACCATCTGCTGCGGCAAGAACCCACTGGGTGACGATGAGGCCTCTGCTACCGTGTCCAAGACGGAGACGAGCCAGGTGGCCCCGGCCTAAGACCTGCCTAGGACTCTGTGGCCGACTATAGGCGTCTCCCATCCCCTACACCTTCCCCCAGCCACAGCCATCCCACCAGGAGCAGCGCCTGTGCAGAATGAACGAAGTCACATAGGCTCCTTAATTTTTTTTTTTTTTTTAAGAAATAATTAATGAGGCTCCTCACTCACCTGGGACAGCCTGAGAAGGGACATCCACCAAGACCTACTGATCTGGAGTCCCACGTTCCCCAAGGCCAGCGGGATGTGTGCCCCTCCTCCTCCCAACTCATCTTTCAGGAACACGAGGATTCTTGCTTTCTGGAAAAGTGTCCCAGCTTAGGGATAAGTGTCTAGCACAGAATGGGGCACACAGTAGGTGCTTAATAAATGCTGGATGGATGCAGGAAGGAATGGAGGAATGAATGGGAAGGGAGAACATATCTATCCTCTCAGACCCTCGCAGCAGCAGCAACTCATACTTGGCTAATGATATGGAGCAGTTGTTTTTCCCTCCCTGGGCCTCACTTTCTTCTCCTATAAAATGGAAATCCCAGATCCCTGGTCCTGCCGACACGCAGCTACTGAGAAGACCAAAAGAGGTGTGTGTGTGTCTATGTGTGTGTTTCAGCACTTTGTAAATAGCAAGAAGCTGTACAGATTCTAGTTAATGTTGTGAATAACATCAATTAATGTAACTAGTTAATTACTATGATTATCACCTCCTGATAGTGAACATTTTGAGATTGGGCATTCAGATGATGGGGTTTCACCCAACCTTGGGGCAGGTTTTTAAAAATTAGCTAGGCATCAAGGCCAGACCAGGGCTGGGGGTTGGGCTGTAGGCAGGGACAGTCACAGGAATGCAGAATGCAGTCATCAGACCTGAAAAAACAACACTGGGGGAGGGGGACGGTGAAGGCCAAGTTCCCAATGAGGGTGAGATTGGGCCTGGGGTCTCACCCCTAGTGTGGGGCCCCAGGTCCCGTGCCTCCCCTTCCCAATGTGGCCTATGGAGAGACAGGCCTTTCTCTCAGCCTCTGGAAGCCACCTGCTCTTTTGCTCTAGCACCTGGGTC
GCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGGGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGGTGGGCCCAGGAACCTGCATTTCCAGCAAGCCCTCCACAGGTGGCTCAGATGCTCACTCAGGTGGGAGAAGCTCCAGTCAGCTAGTTCTGGAAGCCCAATGTCAAAGTCAGAAGGACCCAAGTCGGGAATGGGATGGGCCAGTCTCCATAAAGCTGAATAAGGAGCTAAAAAGTCTTATTCTGAGGGGTAAAGGGGTAAAGGGTTCCTCGGAGAGGTACCTCCGAGGGGTAAACAGTTGGGTAAACAGTCTCTGAAGTCAGCTCTGCCATTTTCTAGCTGTATGGCCCTGGGCAAGTCAATTTCCTTCTCTGTGCTTTGGTTTCCTCATCCATAGAAAGGTAGAAAGGGCAAAACACCAAACTCTTGGATTACAAGAGATAATTTACAGAACACCCTTGGCACACAGAGGGCACCATGAAATGTCACGGGTGACACAGCCCCCTTGTGCTCAGTCCCTGGCATCTCTAGGGGTGAGGAGCGTCTGCCTAGCAGGTTCCCTCCAGGAAGCTGGATTTGAGTGGATGGGGCGCTGGAATCGTGAGGGGCAGAAGCAGGCAAAGGGTCGGGGCGAACCTCACTAACGTGCCAGTTCCAAGCACACTGTGGGCAGCCCTGGCCCTGACTCAAGCCTCTTGCCTTCCAGTTCCGGAACTGCATGCTCACCACCATCTGCTGCGGCAAGAACCCACTGGGTGACGATGAGGCCTCTGCTACCGTGTCCAAGACGGAGACGAGCCAGGTGGCCCCGGCCTAAGACCTGCCTAGGACTCTGTGGCCGACTATAGGCGTCTCCCATCCCCTACACCTTCCCCCAGCCACAGCCATCCCACCAGGAGCAGCGCCTGTGCAGAATGAACGAAGTCACATAGGCTCCTTAATTTTTTTTTTTTTTTTAAGAAATAATTAATGAGGCTCCTCACTCACCTGGGACAGCCTGAGAAGGGACATCCACCAAGACCTACTGATCTGGAGTCCCACGTTCCCCAAGGCCAGCGGGATGTGTGCCCCTCCTCCTCCCAACTCATCTTTCAGGAACACGAGGATTCTTGCTTTCTGGAAAAGTGTCCCAGCTTAGGGATAAGTGTCTAGCACAGAATGGGGCACACAGTAGGTGCTTAATAAATGCTGGATGGATGCAGGAAGGAATGGAGGAATGAATGGGAAGGGAGAACATATCTATCCTCTCAGACCCTCGCAGCAGCAGCAACTCATACTTGGCTAATGATATGGAGCAGTTGTTTTTCCCTCCCTGGGCCTCACTTTCTTCTCCTATAAAATGGAAATCCCAGATCCCTGGTCCTGCCGACACGCAGCTACTGAGAAGACCAAAAGAGGTGTGTGTGTGTCTATGTGTGTGTTTCAGCACTTTGTAAATAGCAAGAAGCTGTACAGATTCTAGTTAATGTTGTGAATAACATCAATTAATGTAACTAGTTAATTACTATGATTATCACCTCCTGATAGTGAACATTTTGAGATTGGGCATTCAGATGATGGGGTTTCACCCAACCTTGGGGCAGGTTTTTAAAAATTAGCTAGGCATCAAGGCCAGACCAGGGCTGGGGGTTGGGCTGTAGGCAGGGACAGTCACAGGAATGCAGAATGCAGTCATCAGACCTGAAAAAACAACACTGGGGGAGGGGGACGGTGAAGGCCAAGTTCCCAATGAGGGTGAGATTGGGCCTGGGGTCTCACCCCTAGTGTGGGGCCCCAGGTCCCGTGCCTCCCCTTCCCAATGTGGCCTATGGAGAGACAGGCCTTTCTCTCAGCCTCTGGAAGCCACCTGCTCTTTTGCTCTAGCACCTGGGTC
Task1_train_7596
A variant was discovered in gene RHO (rhodopsin), Chromosome 3. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Retinal exudate
GCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGGTGGGCCCAGGAACCTGCATTTCCAGCAAGCCCTCCACAGGTGGCTCAGATGCTCACTCAGGTGGGAGAAGCTCCAGTCAGCTAGTTCTGGAAGCCCAATGTCAAAGTCAGAAGGACCCAAGTCGGGAATGGGATGGGCCAGTCTCCATAAAGCTGAATAAGGAGCTAAAAAGTCTTATTCTGAGGGGTAAAGGGGTAAAGGGTTCCTCGGAGAGGTACCTCCGAGGGGTAAACAGTTGGGTAAACAGTCTCTGAAGTCAGCTCTGCCATTTTCTAGCTGTATGGCCCTGGGCAAGTCAATTTCCTTCTCTGTGCTTTGGTTTCCTCATCCATAGAAAGGTAGAAAGGGCAAAACACCAAACTCTTGGATTACAAGAGATAATTTACAGAACACCCTTGGCACACAGAGGGCACCATGAAATGTCACGGGTGACACAGCCCCCTTGTGCTCAGTCCCTGGCATCTCTAGGGGTGAGGAGCGTCTGCCTAGCAGGTTCCCTCCAGGAAGCTGGATTTGAGTGGATGGGGCGCTGGAATCGTGAGGGGCAGAAGCAGGCAAAGGGTCGGGGCGAACCTCACTAACGTGCCAGTTCCAAGCACACTGTGGGCAGCCCTGGCCCTGACTCAAGCCTCTTGCCTTCCAGTTCCGGAACTGCATGCTCACCACCATCTGCTGCGGCAAGAACCCACTGGGTGACGATGAGGCCTCTGCTACCGTGTCCAAGACGGAGACGAGCCAGGTGGCCCCGGCCTAAGACCTGCCTAGGACTCTGTGGCCGACTATAGGCGTCTCCCATCCCCTACACCTTCCCCCAGCCACAGCCATCCCACCAGGAGCAGCGCCTGTGCAGAATGAACGAAGTCACATAGGCTCCTTAATTTTTTTTTTTTTTTTAAGAAATAATTAATGAGGCTCCTCACTCACCTGGGACAGCCTGAGAAGGGACATCCACCAAGACCTACTGATCTGGAGTCCCACGTTCCCCAAGGCCAGCGGGATGTGTGCCCCTCCTCCTCCCAACTCATCTTTCAGGAACACGAGGATTCTTGCTTTCTGGAAAAGTGTCCCAGCTTAGGGATAAGTGTCTAGCACAGAATGGGGCACACAGTAGGTGCTTAATAAATGCTGGATGGATGCAGGAAGGAATGGAGGAATGAATGGGAAGGGAGAACATATCTATCCTCTCAGACCCTCGCAGCAGCAGCAACTCATACTTGGCTAATGATATGGAGCAGTTGTTTTTCCCTCCCTGGGCCTCACTTTCTTCTCCTATAAAATGGAAATCCCAGATCCCTGGTCCTGCCGACACGCAGCTACTGAGAAGACCAAAAGAGGTGTGTGTGTGTCTATGTGTGTGTTTCAGCACTTTGTAAATAGCAAGAAGCTGTACAGATTCTAGTTAATGTTGTGAATAACATCAATTAATGTAACTAGTTAATTACTATGATTATCACCTCCTGATAGTGAACATTTTGAGATTGGGCATTCAGATGATGGGGTTTCACCCAACCTTGGGGCAGGTTTTTAAAAATTAGCTAGGCATCAAGGCCAGACCAGGGCTGGGGGTTGGGCTGTAGGCAGGGACAGTCACAGGAATGCAGAATGCAGTCATCAGACCTGAAAAAACAACACTGGGGGAGGGGGACGGTGAAGGCCAAGTTCCCAATGAGGGTGAGATTGGGCCTGGGGTCTCACCCCTAGTGTGGGGCCCCAGGTCCCGTGCCTCCCCTTCCCAATGTGGCCTATGGAGAGACAGGCCTTTCTCTCAGCCTCTGGAAGCCACCTGCTCTTTTGCTCTAGCACCTGGGTC
GCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGGGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGGTGGGCCCAGGAACCTGCATTTCCAGCAAGCCCTCCACAGGTGGCTCAGATGCTCACTCAGGTGGGAGAAGCTCCAGTCAGCTAGTTCTGGAAGCCCAATGTCAAAGTCAGAAGGACCCAAGTCGGGAATGGGATGGGCCAGTCTCCATAAAGCTGAATAAGGAGCTAAAAAGTCTTATTCTGAGGGGTAAAGGGGTAAAGGGTTCCTCGGAGAGGTACCTCCGAGGGGTAAACAGTTGGGTAAACAGTCTCTGAAGTCAGCTCTGCCATTTTCTAGCTGTATGGCCCTGGGCAAGTCAATTTCCTTCTCTGTGCTTTGGTTTCCTCATCCATAGAAAGGTAGAAAGGGCAAAACACCAAACTCTTGGATTACAAGAGATAATTTACAGAACACCCTTGGCACACAGAGGGCACCATGAAATGTCACGGGTGACACAGCCCCCTTGTGCTCAGTCCCTGGCATCTCTAGGGGTGAGGAGCGTCTGCCTAGCAGGTTCCCTCCAGGAAGCTGGATTTGAGTGGATGGGGCGCTGGAATCGTGAGGGGCAGAAGCAGGCAAAGGGTCGGGGCGAACCTCACTAACGTGCCAGTTCCAAGCACACTGTGGGCAGCCCTGGCCCTGACTCAAGCCTCTTGCCTTCCAGTTCCGGAACTGCATGCTCACCACCATCTGCTGCGGCAAGAACCCACTGGGTGACGATGAGGCCTCTGCTACCGTGTCCAAGACGGAGACGAGCCAGGTGGCCCCGGCCTAAGACCTGCCTAGGACTCTGTGGCCGACTATAGGCGTCTCCCATCCCCTACACCTTCCCCCAGCCACAGCCATCCCACCAGGAGCAGCGCCTGTGCAGAATGAACGAAGTCACATAGGCTCCTTAATTTTTTTTTTTTTTTTAAGAAATAATTAATGAGGCTCCTCACTCACCTGGGACAGCCTGAGAAGGGACATCCACCAAGACCTACTGATCTGGAGTCCCACGTTCCCCAAGGCCAGCGGGATGTGTGCCCCTCCTCCTCCCAACTCATCTTTCAGGAACACGAGGATTCTTGCTTTCTGGAAAAGTGTCCCAGCTTAGGGATAAGTGTCTAGCACAGAATGGGGCACACAGTAGGTGCTTAATAAATGCTGGATGGATGCAGGAAGGAATGGAGGAATGAATGGGAAGGGAGAACATATCTATCCTCTCAGACCCTCGCAGCAGCAGCAACTCATACTTGGCTAATGATATGGAGCAGTTGTTTTTCCCTCCCTGGGCCTCACTTTCTTCTCCTATAAAATGGAAATCCCAGATCCCTGGTCCTGCCGACACGCAGCTACTGAGAAGACCAAAAGAGGTGTGTGTGTGTCTATGTGTGTGTTTCAGCACTTTGTAAATAGCAAGAAGCTGTACAGATTCTAGTTAATGTTGTGAATAACATCAATTAATGTAACTAGTTAATTACTATGATTATCACCTCCTGATAGTGAACATTTTGAGATTGGGCATTCAGATGATGGGGTTTCACCCAACCTTGGGGCAGGTTTTTAAAAATTAGCTAGGCATCAAGGCCAGACCAGGGCTGGGGGTTGGGCTGTAGGCAGGGACAGTCACAGGAATGCAGAATGCAGTCATCAGACCTGAAAAAACAACACTGGGGGAGGGGGACGGTGAAGGCCAAGTTCCCAATGAGGGTGAGATTGGGCCTGGGGTCTCACCCCTAGTGTGGGGCCCCAGGTCCCGTGCCTCCCCTTCCCAATGTGGCCTATGGAGAGACAGGCCTTTCTCTCAGCCTCTGGAAGCCACCTGCTCTTTTGCTCTAGCACCTGGGTC
Task1_train_7597
Here is a mutation in RHO (rhodopsin) on Chromosome 3. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Rod-cone dystrophy
GCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGGTGGGCCCAGGAACCTGCATTTCCAGCAAGCCCTCCACAGGTGGCTCAGATGCTCACTCAGGTGGGAGAAGCTCCAGTCAGCTAGTTCTGGAAGCCCAATGTCAAAGTCAGAAGGACCCAAGTCGGGAATGGGATGGGCCAGTCTCCATAAAGCTGAATAAGGAGCTAAAAAGTCTTATTCTGAGGGGTAAAGGGGTAAAGGGTTCCTCGGAGAGGTACCTCCGAGGGGTAAACAGTTGGGTAAACAGTCTCTGAAGTCAGCTCTGCCATTTTCTAGCTGTATGGCCCTGGGCAAGTCAATTTCCTTCTCTGTGCTTTGGTTTCCTCATCCATAGAAAGGTAGAAAGGGCAAAACACCAAACTCTTGGATTACAAGAGATAATTTACAGAACACCCTTGGCACACAGAGGGCACCATGAAATGTCACGGGTGACACAGCCCCCTTGTGCTCAGTCCCTGGCATCTCTAGGGGTGAGGAGCGTCTGCCTAGCAGGTTCCCTCCAGGAAGCTGGATTTGAGTGGATGGGGCGCTGGAATCGTGAGGGGCAGAAGCAGGCAAAGGGTCGGGGCGAACCTCACTAACGTGCCAGTTCCAAGCACACTGTGGGCAGCCCTGGCCCTGACTCAAGCCTCTTGCCTTCCAGTTCCGGAACTGCATGCTCACCACCATCTGCTGCGGCAAGAACCCACTGGGTGACGATGAGGCCTCTGCTACCGTGTCCAAGACGGAGACGAGCCAGGTGGCCCCGGCCTAAGACCTGCCTAGGACTCTGTGGCCGACTATAGGCGTCTCCCATCCCCTACACCTTCCCCCAGCCACAGCCATCCCACCAGGAGCAGCGCCTGTGCAGAATGAACGAAGTCACATAGGCTCCTTAATTTTTTTTTTTTTTTTAAGAAATAATTAATGAGGCTCCTCACTCACCTGGGACAGCCTGAGAAGGGACATCCACCAAGACCTACTGATCTGGAGTCCCACGTTCCCCAAGGCCAGCGGGATGTGTGCCCCTCCTCCTCCCAACTCATCTTTCAGGAACACGAGGATTCTTGCTTTCTGGAAAAGTGTCCCAGCTTAGGGATAAGTGTCTAGCACAGAATGGGGCACACAGTAGGTGCTTAATAAATGCTGGATGGATGCAGGAAGGAATGGAGGAATGAATGGGAAGGGAGAACATATCTATCCTCTCAGACCCTCGCAGCAGCAGCAACTCATACTTGGCTAATGATATGGAGCAGTTGTTTTTCCCTCCCTGGGCCTCACTTTCTTCTCCTATAAAATGGAAATCCCAGATCCCTGGTCCTGCCGACACGCAGCTACTGAGAAGACCAAAAGAGGTGTGTGTGTGTCTATGTGTGTGTTTCAGCACTTTGTAAATAGCAAGAAGCTGTACAGATTCTAGTTAATGTTGTGAATAACATCAATTAATGTAACTAGTTAATTACTATGATTATCACCTCCTGATAGTGAACATTTTGAGATTGGGCATTCAGATGATGGGGTTTCACCCAACCTTGGGGCAGGTTTTTAAAAATTAGCTAGGCATCAAGGCCAGACCAGGGCTGGGGGTTGGGCTGTAGGCAGGGACAGTCACAGGAATGCAGAATGCAGTCATCAGACCTGAAAAAACAACACTGGGGGAGGGGGACGGTGAAGGCCAAGTTCCCAATGAGGGTGAGATTGGGCCTGGGGTCTCACCCCTAGTGTGGGGCCCCAGGTCCCGTGCCTCCCCTTCCCAATGTGGCCTATGGAGAGACAGGCCTTTCTCTCAGCCTCTGGAAGCCACCTGCTCTTTTGCTCTAGCACCTGGGTC
GCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGGGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGGTGGGCCCAGGAACCTGCATTTCCAGCAAGCCCTCCACAGGTGGCTCAGATGCTCACTCAGGTGGGAGAAGCTCCAGTCAGCTAGTTCTGGAAGCCCAATGTCAAAGTCAGAAGGACCCAAGTCGGGAATGGGATGGGCCAGTCTCCATAAAGCTGAATAAGGAGCTAAAAAGTCTTATTCTGAGGGGTAAAGGGGTAAAGGGTTCCTCGGAGAGGTACCTCCGAGGGGTAAACAGTTGGGTAAACAGTCTCTGAAGTCAGCTCTGCCATTTTCTAGCTGTATGGCCCTGGGCAAGTCAATTTCCTTCTCTGTGCTTTGGTTTCCTCATCCATAGAAAGGTAGAAAGGGCAAAACACCAAACTCTTGGATTACAAGAGATAATTTACAGAACACCCTTGGCACACAGAGGGCACCATGAAATGTCACGGGTGACACAGCCCCCTTGTGCTCAGTCCCTGGCATCTCTAGGGGTGAGGAGCGTCTGCCTAGCAGGTTCCCTCCAGGAAGCTGGATTTGAGTGGATGGGGCGCTGGAATCGTGAGGGGCAGAAGCAGGCAAAGGGTCGGGGCGAACCTCACTAACGTGCCAGTTCCAAGCACACTGTGGGCAGCCCTGGCCCTGACTCAAGCCTCTTGCCTTCCAGTTCCGGAACTGCATGCTCACCACCATCTGCTGCGGCAAGAACCCACTGGGTGACGATGAGGCCTCTGCTACCGTGTCCAAGACGGAGACGAGCCAGGTGGCCCCGGCCTAAGACCTGCCTAGGACTCTGTGGCCGACTATAGGCGTCTCCCATCCCCTACACCTTCCCCCAGCCACAGCCATCCCACCAGGAGCAGCGCCTGTGCAGAATGAACGAAGTCACATAGGCTCCTTAATTTTTTTTTTTTTTTTAAGAAATAATTAATGAGGCTCCTCACTCACCTGGGACAGCCTGAGAAGGGACATCCACCAAGACCTACTGATCTGGAGTCCCACGTTCCCCAAGGCCAGCGGGATGTGTGCCCCTCCTCCTCCCAACTCATCTTTCAGGAACACGAGGATTCTTGCTTTCTGGAAAAGTGTCCCAGCTTAGGGATAAGTGTCTAGCACAGAATGGGGCACACAGTAGGTGCTTAATAAATGCTGGATGGATGCAGGAAGGAATGGAGGAATGAATGGGAAGGGAGAACATATCTATCCTCTCAGACCCTCGCAGCAGCAGCAACTCATACTTGGCTAATGATATGGAGCAGTTGTTTTTCCCTCCCTGGGCCTCACTTTCTTCTCCTATAAAATGGAAATCCCAGATCCCTGGTCCTGCCGACACGCAGCTACTGAGAAGACCAAAAGAGGTGTGTGTGTGTCTATGTGTGTGTTTCAGCACTTTGTAAATAGCAAGAAGCTGTACAGATTCTAGTTAATGTTGTGAATAACATCAATTAATGTAACTAGTTAATTACTATGATTATCACCTCCTGATAGTGAACATTTTGAGATTGGGCATTCAGATGATGGGGTTTCACCCAACCTTGGGGCAGGTTTTTAAAAATTAGCTAGGCATCAAGGCCAGACCAGGGCTGGGGGTTGGGCTGTAGGCAGGGACAGTCACAGGAATGCAGAATGCAGTCATCAGACCTGAAAAAACAACACTGGGGGAGGGGGACGGTGAAGGCCAAGTTCCCAATGAGGGTGAGATTGGGCCTGGGGTCTCACCCCTAGTGTGGGGCCCCAGGTCCCGTGCCTCCCCTTCCCAATGTGGCCTATGGAGAGACAGGCCTTTCTCTCAGCCTCTGGAAGCCACCTGCTCTTTTGCTCTAGCACCTGGGTC
Task1_train_7598
Given a variant located on Chromosome 3 and affecting RHO (rhodopsin), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Progressive visual loss
GCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGGTGGGCCCAGGAACCTGCATTTCCAGCAAGCCCTCCACAGGTGGCTCAGATGCTCACTCAGGTGGGAGAAGCTCCAGTCAGCTAGTTCTGGAAGCCCAATGTCAAAGTCAGAAGGACCCAAGTCGGGAATGGGATGGGCCAGTCTCCATAAAGCTGAATAAGGAGCTAAAAAGTCTTATTCTGAGGGGTAAAGGGGTAAAGGGTTCCTCGGAGAGGTACCTCCGAGGGGTAAACAGTTGGGTAAACAGTCTCTGAAGTCAGCTCTGCCATTTTCTAGCTGTATGGCCCTGGGCAAGTCAATTTCCTTCTCTGTGCTTTGGTTTCCTCATCCATAGAAAGGTAGAAAGGGCAAAACACCAAACTCTTGGATTACAAGAGATAATTTACAGAACACCCTTGGCACACAGAGGGCACCATGAAATGTCACGGGTGACACAGCCCCCTTGTGCTCAGTCCCTGGCATCTCTAGGGGTGAGGAGCGTCTGCCTAGCAGGTTCCCTCCAGGAAGCTGGATTTGAGTGGATGGGGCGCTGGAATCGTGAGGGGCAGAAGCAGGCAAAGGGTCGGGGCGAACCTCACTAACGTGCCAGTTCCAAGCACACTGTGGGCAGCCCTGGCCCTGACTCAAGCCTCTTGCCTTCCAGTTCCGGAACTGCATGCTCACCACCATCTGCTGCGGCAAGAACCCACTGGGTGACGATGAGGCCTCTGCTACCGTGTCCAAGACGGAGACGAGCCAGGTGGCCCCGGCCTAAGACCTGCCTAGGACTCTGTGGCCGACTATAGGCGTCTCCCATCCCCTACACCTTCCCCCAGCCACAGCCATCCCACCAGGAGCAGCGCCTGTGCAGAATGAACGAAGTCACATAGGCTCCTTAATTTTTTTTTTTTTTTTAAGAAATAATTAATGAGGCTCCTCACTCACCTGGGACAGCCTGAGAAGGGACATCCACCAAGACCTACTGATCTGGAGTCCCACGTTCCCCAAGGCCAGCGGGATGTGTGCCCCTCCTCCTCCCAACTCATCTTTCAGGAACACGAGGATTCTTGCTTTCTGGAAAAGTGTCCCAGCTTAGGGATAAGTGTCTAGCACAGAATGGGGCACACAGTAGGTGCTTAATAAATGCTGGATGGATGCAGGAAGGAATGGAGGAATGAATGGGAAGGGAGAACATATCTATCCTCTCAGACCCTCGCAGCAGCAGCAACTCATACTTGGCTAATGATATGGAGCAGTTGTTTTTCCCTCCCTGGGCCTCACTTTCTTCTCCTATAAAATGGAAATCCCAGATCCCTGGTCCTGCCGACACGCAGCTACTGAGAAGACCAAAAGAGGTGTGTGTGTGTCTATGTGTGTGTTTCAGCACTTTGTAAATAGCAAGAAGCTGTACAGATTCTAGTTAATGTTGTGAATAACATCAATTAATGTAACTAGTTAATTACTATGATTATCACCTCCTGATAGTGAACATTTTGAGATTGGGCATTCAGATGATGGGGTTTCACCCAACCTTGGGGCAGGTTTTTAAAAATTAGCTAGGCATCAAGGCCAGACCAGGGCTGGGGGTTGGGCTGTAGGCAGGGACAGTCACAGGAATGCAGAATGCAGTCATCAGACCTGAAAAAACAACACTGGGGGAGGGGGACGGTGAAGGCCAAGTTCCCAATGAGGGTGAGATTGGGCCTGGGGTCTCACCCCTAGTGTGGGGCCCCAGGTCCCGTGCCTCCCCTTCCCAATGTGGCCTATGGAGAGACAGGCCTTTCTCTCAGCCTCTGGAAGCCACCTGCTCTTTTGCTCTAGCACCTGGGTC
GCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGGGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGGTGGGCCCAGGAACCTGCATTTCCAGCAAGCCCTCCACAGGTGGCTCAGATGCTCACTCAGGTGGGAGAAGCTCCAGTCAGCTAGTTCTGGAAGCCCAATGTCAAAGTCAGAAGGACCCAAGTCGGGAATGGGATGGGCCAGTCTCCATAAAGCTGAATAAGGAGCTAAAAAGTCTTATTCTGAGGGGTAAAGGGGTAAAGGGTTCCTCGGAGAGGTACCTCCGAGGGGTAAACAGTTGGGTAAACAGTCTCTGAAGTCAGCTCTGCCATTTTCTAGCTGTATGGCCCTGGGCAAGTCAATTTCCTTCTCTGTGCTTTGGTTTCCTCATCCATAGAAAGGTAGAAAGGGCAAAACACCAAACTCTTGGATTACAAGAGATAATTTACAGAACACCCTTGGCACACAGAGGGCACCATGAAATGTCACGGGTGACACAGCCCCCTTGTGCTCAGTCCCTGGCATCTCTAGGGGTGAGGAGCGTCTGCCTAGCAGGTTCCCTCCAGGAAGCTGGATTTGAGTGGATGGGGCGCTGGAATCGTGAGGGGCAGAAGCAGGCAAAGGGTCGGGGCGAACCTCACTAACGTGCCAGTTCCAAGCACACTGTGGGCAGCCCTGGCCCTGACTCAAGCCTCTTGCCTTCCAGTTCCGGAACTGCATGCTCACCACCATCTGCTGCGGCAAGAACCCACTGGGTGACGATGAGGCCTCTGCTACCGTGTCCAAGACGGAGACGAGCCAGGTGGCCCCGGCCTAAGACCTGCCTAGGACTCTGTGGCCGACTATAGGCGTCTCCCATCCCCTACACCTTCCCCCAGCCACAGCCATCCCACCAGGAGCAGCGCCTGTGCAGAATGAACGAAGTCACATAGGCTCCTTAATTTTTTTTTTTTTTTTAAGAAATAATTAATGAGGCTCCTCACTCACCTGGGACAGCCTGAGAAGGGACATCCACCAAGACCTACTGATCTGGAGTCCCACGTTCCCCAAGGCCAGCGGGATGTGTGCCCCTCCTCCTCCCAACTCATCTTTCAGGAACACGAGGATTCTTGCTTTCTGGAAAAGTGTCCCAGCTTAGGGATAAGTGTCTAGCACAGAATGGGGCACACAGTAGGTGCTTAATAAATGCTGGATGGATGCAGGAAGGAATGGAGGAATGAATGGGAAGGGAGAACATATCTATCCTCTCAGACCCTCGCAGCAGCAGCAACTCATACTTGGCTAATGATATGGAGCAGTTGTTTTTCCCTCCCTGGGCCTCACTTTCTTCTCCTATAAAATGGAAATCCCAGATCCCTGGTCCTGCCGACACGCAGCTACTGAGAAGACCAAAAGAGGTGTGTGTGTGTCTATGTGTGTGTTTCAGCACTTTGTAAATAGCAAGAAGCTGTACAGATTCTAGTTAATGTTGTGAATAACATCAATTAATGTAACTAGTTAATTACTATGATTATCACCTCCTGATAGTGAACATTTTGAGATTGGGCATTCAGATGATGGGGTTTCACCCAACCTTGGGGCAGGTTTTTAAAAATTAGCTAGGCATCAAGGCCAGACCAGGGCTGGGGGTTGGGCTGTAGGCAGGGACAGTCACAGGAATGCAGAATGCAGTCATCAGACCTGAAAAAACAACACTGGGGGAGGGGGACGGTGAAGGCCAAGTTCCCAATGAGGGTGAGATTGGGCCTGGGGTCTCACCCCTAGTGTGGGGCCCCAGGTCCCGTGCCTCCCCTTCCCAATGTGGCCTATGGAGAGACAGGCCTTTCTCTCAGCCTCTGGAAGCCACCTGCTCTTTTGCTCTAGCACCTGGGTC
Task1_train_7599
Consider a variant on Chromosome 3 in gene RHO (rhodopsin). Determine its clinical classification and disease relevance.
Pathogenic; Nystagmus
GCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGGTGGGCCCAGGAACCTGCATTTCCAGCAAGCCCTCCACAGGTGGCTCAGATGCTCACTCAGGTGGGAGAAGCTCCAGTCAGCTAGTTCTGGAAGCCCAATGTCAAAGTCAGAAGGACCCAAGTCGGGAATGGGATGGGCCAGTCTCCATAAAGCTGAATAAGGAGCTAAAAAGTCTTATTCTGAGGGGTAAAGGGGTAAAGGGTTCCTCGGAGAGGTACCTCCGAGGGGTAAACAGTTGGGTAAACAGTCTCTGAAGTCAGCTCTGCCATTTTCTAGCTGTATGGCCCTGGGCAAGTCAATTTCCTTCTCTGTGCTTTGGTTTCCTCATCCATAGAAAGGTAGAAAGGGCAAAACACCAAACTCTTGGATTACAAGAGATAATTTACAGAACACCCTTGGCACACAGAGGGCACCATGAAATGTCACGGGTGACACAGCCCCCTTGTGCTCAGTCCCTGGCATCTCTAGGGGTGAGGAGCGTCTGCCTAGCAGGTTCCCTCCAGGAAGCTGGATTTGAGTGGATGGGGCGCTGGAATCGTGAGGGGCAGAAGCAGGCAAAGGGTCGGGGCGAACCTCACTAACGTGCCAGTTCCAAGCACACTGTGGGCAGCCCTGGCCCTGACTCAAGCCTCTTGCCTTCCAGTTCCGGAACTGCATGCTCACCACCATCTGCTGCGGCAAGAACCCACTGGGTGACGATGAGGCCTCTGCTACCGTGTCCAAGACGGAGACGAGCCAGGTGGCCCCGGCCTAAGACCTGCCTAGGACTCTGTGGCCGACTATAGGCGTCTCCCATCCCCTACACCTTCCCCCAGCCACAGCCATCCCACCAGGAGCAGCGCCTGTGCAGAATGAACGAAGTCACATAGGCTCCTTAATTTTTTTTTTTTTTTTAAGAAATAATTAATGAGGCTCCTCACTCACCTGGGACAGCCTGAGAAGGGACATCCACCAAGACCTACTGATCTGGAGTCCCACGTTCCCCAAGGCCAGCGGGATGTGTGCCCCTCCTCCTCCCAACTCATCTTTCAGGAACACGAGGATTCTTGCTTTCTGGAAAAGTGTCCCAGCTTAGGGATAAGTGTCTAGCACAGAATGGGGCACACAGTAGGTGCTTAATAAATGCTGGATGGATGCAGGAAGGAATGGAGGAATGAATGGGAAGGGAGAACATATCTATCCTCTCAGACCCTCGCAGCAGCAGCAACTCATACTTGGCTAATGATATGGAGCAGTTGTTTTTCCCTCCCTGGGCCTCACTTTCTTCTCCTATAAAATGGAAATCCCAGATCCCTGGTCCTGCCGACACGCAGCTACTGAGAAGACCAAAAGAGGTGTGTGTGTGTCTATGTGTGTGTTTCAGCACTTTGTAAATAGCAAGAAGCTGTACAGATTCTAGTTAATGTTGTGAATAACATCAATTAATGTAACTAGTTAATTACTATGATTATCACCTCCTGATAGTGAACATTTTGAGATTGGGCATTCAGATGATGGGGTTTCACCCAACCTTGGGGCAGGTTTTTAAAAATTAGCTAGGCATCAAGGCCAGACCAGGGCTGGGGGTTGGGCTGTAGGCAGGGACAGTCACAGGAATGCAGAATGCAGTCATCAGACCTGAAAAAACAACACTGGGGGAGGGGGACGGTGAAGGCCAAGTTCCCAATGAGGGTGAGATTGGGCCTGGGGTCTCACCCCTAGTGTGGGGCCCCAGGTCCCGTGCCTCCCCTTCCCAATGTGGCCTATGGAGAGACAGGCCTTTCTCTCAGCCTCTGGAAGCCACCTGCTCTTTTGCTCTAGCACCTGGGTC
GCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAGGGAAGAAGCTCCGGGGGCTCTTTGTAGGGTCCTCCAGTCAGGACTCAAACCCAGTAGTGTCTGGTTCCAGGCACTGACCTTGTATGTCTCCTGGCCCAAATGCCCACTCAGGGTAGGGGTGTAGGGCAGAAGAAGAAACAGACTCTAATGTTGCTACAAGGGCTGGTCCCATCTCCTGAGCCCCATGTCAAACAGAATCCAAGACATCCCAACCCTTCACCTTGGCTGTGCCCCTAATCCTCAACTAAGCTAGGCGCAAATTCCAATCCTCTTTGGTCTAGTACCCCGGGGGCAGCCCCCTCTAACCTTGGGCCTCAGCAGCAGGGGAGGCCACACCTTCCTAGTGCAGGTGGCCATATTGTGGCCCCTTGGAACTGGGTCCCACTCAGCCTCTAGGCGATTGTCTCCTAATGGGGCTGAGATGAGACACAGTGGGGACAGTGGTTTGGACAATAGGACTGGTGACTCTGGTCCCCAGAGGCCTCATGTCCCTCTGTCTCCAGAAAATTCCCACTCTCACTTCCCTTTCCTCCTCAGTCTTGCTAGGGTCCATTTCTTACCCCTTGCTGAATTTGAGCCCACCCCCTGGACTTTTTCCCCATCTTCTCCAATCTGGCCTAGTTCTATCCTCTGGAAGCAGAGCCGCTGGACGCTCTGGGTTTCCTGAGGCCCGTCCACTGTCACCAATATCAGGAACCATTGCCACGTCCTAATGACGTGCGCTGGAAGCCTCTAGTTTCCAGAAGCTGCACAAAGATCCCTTAGATACTCTGTGTGTCCATCTTTGGCCTGGAAAATACTCTCACCCTGGGGCTAGGAAGACCTCGGTTTGTACAAACTTCCTCAAATGCAGAGCCTGAGGGCTCTCCCCACCTCCTCACCAACCCTCTGCGTGGCATAGCCCTAGCCTCAGCGGGCAGTGGATGCTGGGGCTGGGCATGCAGGGAGAGGCTGGGTGGTGTCATCTGGTAACGCAGCCACCAAACAATGAAGCGACACTGATTCCACAAGGTGCATCTGCATCCCCATCTGATCCATTCCATCCTGTCACCCAGCCATGCAGACGTTTATGATCCCCTTTTCCAGGGAGGGAATGTGAAGCCCCAGAAAGGGCCAGCGCTCGGCAGCCACCTTGGCTGTTCCCAAGTCCCTCACAGGCAGGGTCTCCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTTTTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGTACGGGCCGGGGGGTGGGCGGCCTCACGGCTCTGAGGGTCCAGCCCCCAGCATGCATCTGCGGCTCCTGCTCCCTGGAGGAGCCATGGTCTGGACCCGGGTCCCGTGTCCTGCAGGCCGCTGCCCAGCAGCAGGAGTCAGCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGCTCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGGGCCGCCATCTACAACCCTGTCATCTATATCATGATGAACAAGCAGGTGCCTACTGCGGGTGGGAGGGCCCCAGTGCCCCAGGCCACAGGCGCTGCCTGCCAAGGACAAGCTACTTCCCAGGGCAGGGGAGGGGGCTCCATCAGGGTTACTGGCAGCAGTCTTGGGTCAGCAGTCCCAATGGGGAGTGTGTGAGAAATGCAGATTCCTGGCCCCACTCAGAACTGCTGAATCTCAGGGTGGGCCCAGGAACCTGCATTTCCAGCAAGCCCTCCACAGGTGGCTCAGATGCTCACTCAGGTGGGAGAAGCTCCAGTCAGCTAGTTCTGGAAGCCCAATGTCAAAGTCAGAAGGACCCAAGTCGGGAATGGGATGGGCCAGTCTCCATAAAGCTGAATAAGGAGCTAAAAAGTCTTATTCTGAGGGGTAAAGGGGTAAAGGGTTCCTCGGAGAGGTACCTCCGAGGGGTAAACAGTTGGGTAAACAGTCTCTGAAGTCAGCTCTGCCATTTTCTAGCTGTATGGCCCTGGGCAAGTCAATTTCCTTCTCTGTGCTTTGGTTTCCTCATCCATAGAAAGGTAGAAAGGGCAAAACACCAAACTCTTGGATTACAAGAGATAATTTACAGAACACCCTTGGCACACAGAGGGCACCATGAAATGTCACGGGTGACACAGCCCCCTTGTGCTCAGTCCCTGGCATCTCTAGGGGTGAGGAGCGTCTGCCTAGCAGGTTCCCTCCAGGAAGCTGGATTTGAGTGGATGGGGCGCTGGAATCGTGAGGGGCAGAAGCAGGCAAAGGGTCGGGGCGAACCTCACTAACGTGCCAGTTCCAAGCACACTGTGGGCAGCCCTGGCCCTGACTCAAGCCTCTTGCCTTCCAGTTCCGGAACTGCATGCTCACCACCATCTGCTGCGGCAAGAACCCACTGGGTGACGATGAGGCCTCTGCTACCGTGTCCAAGACGGAGACGAGCCAGGTGGCCCCGGCCTAAGACCTGCCTAGGACTCTGTGGCCGACTATAGGCGTCTCCCATCCCCTACACCTTCCCCCAGCCACAGCCATCCCACCAGGAGCAGCGCCTGTGCAGAATGAACGAAGTCACATAGGCTCCTTAATTTTTTTTTTTTTTTTAAGAAATAATTAATGAGGCTCCTCACTCACCTGGGACAGCCTGAGAAGGGACATCCACCAAGACCTACTGATCTGGAGTCCCACGTTCCCCAAGGCCAGCGGGATGTGTGCCCCTCCTCCTCCCAACTCATCTTTCAGGAACACGAGGATTCTTGCTTTCTGGAAAAGTGTCCCAGCTTAGGGATAAGTGTCTAGCACAGAATGGGGCACACAGTAGGTGCTTAATAAATGCTGGATGGATGCAGGAAGGAATGGAGGAATGAATGGGAAGGGAGAACATATCTATCCTCTCAGACCCTCGCAGCAGCAGCAACTCATACTTGGCTAATGATATGGAGCAGTTGTTTTTCCCTCCCTGGGCCTCACTTTCTTCTCCTATAAAATGGAAATCCCAGATCCCTGGTCCTGCCGACACGCAGCTACTGAGAAGACCAAAAGAGGTGTGTGTGTGTCTATGTGTGTGTTTCAGCACTTTGTAAATAGCAAGAAGCTGTACAGATTCTAGTTAATGTTGTGAATAACATCAATTAATGTAACTAGTTAATTACTATGATTATCACCTCCTGATAGTGAACATTTTGAGATTGGGCATTCAGATGATGGGGTTTCACCCAACCTTGGGGCAGGTTTTTAAAAATTAGCTAGGCATCAAGGCCAGACCAGGGCTGGGGGTTGGGCTGTAGGCAGGGACAGTCACAGGAATGCAGAATGCAGTCATCAGACCTGAAAAAACAACACTGGGGGAGGGGGACGGTGAAGGCCAAGTTCCCAATGAGGGTGAGATTGGGCCTGGGGTCTCACCCCTAGTGTGGGGCCCCAGGTCCCGTGCCTCCCCTTCCCAATGTGGCCTATGGAGAGACAGGCCTTTCTCTCAGCCTCTGGAAGCCACCTGCTCTTTTGCTCTAGCACCTGGGTC