question stringlengths 84 268 | answer stringlengths 6 879 | reference_sequence stringlengths 4.1k 4.1k | mutated_sequence stringlengths 4.1k 4.1k | cleaned_pathogenicity stringclasses 2 values | __index_level_0__ int64 67 343k |
|---|---|---|---|---|---|
Benign or pathogenic: chromosome 19, position 46756616, gene FKRP (fukutin related protein) variant? Disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2I', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A5', 'Walker-Warburg_congenital_muscular_dystrophy'] | TGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTATTATCTGTATGTTAGTAATAAAGCTTAAATTATTCCATTTTAAAATTATGAATATGAATAGGGTTTTTTTTATGTTTCTTGCCTCATCCCAATGACTTTTGCACACCCAGGTGTGAGCACCCAGCATTCAAGACCACGGGTTAAAAAAAAAAAAAAAAAGCTGGCCGGGCGTGGTGGCTCACGCCTGTGATCCCAACACTTTTGGGAGGCTGAGACAGGAGGAACA | TGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTATTATCTGTATGTTAGTAATAAAGCTTAAATTATTCCATTTTAAAATTATGAATATGAATAGGGTTTTTTTTATGTTTCTTGCCTCATCCCAATGACTTTTGCACACCCAGGTGTGAGCACCCAGCATTCAAGACCACGGGTTAAAAAAAAAAAAAAAAAGCTGGCCGGGCGTGGTGGCTCACGCCTGTGATCCCAACACTTTTGGGAGGCTGAGACAGGAGGAACANN | pathogenic | 306,972 |
Evaluate this variant at chromosome 19, position 46756635, gene FKRP (fukutin related protein): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Cardiovascular_phenotype', 'Walker-Warburg_congenital_muscular_dystrophy'] | TAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTATTATCTGTATGTTAGTAATAAAGCTTAAATTATTCCATTTTAAAATTATGAATATGAATAGGGTTTTTTTTATGTTTCTTGCCTCATCCCAATGACTTTTGCACACCCAGGTGTGAGCACCCAGCATTCAAGACCACGGGTTAAAAAAAAAAAAAAAAAGCTGGCCGGGCGTGGTGGCTCACGCCTGTGATCCCAACACTTTTGGGAGGCTGAGACAGGAGGAACACTTGAGCTCGGGAGTTCGA | TAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTATTATCTGTATGTTAGTAATAAAGCTTAAATTATTCCATTTTAAAATTATGAATATGAATAGGGTTTTTTTTATGTTTCTTGCCTCATCCCAATGACTTTTGCACACCCAGGTGTGAGCACCCAGCATTCAAGACCACGGGTTAAAAAAAAAAAAAAAAAGCTGGCCGGGCGTGGTGGCTCACGCCTGTGATCCCAACACTTTTGGGAGGCTGAGACAGGAGGAACACTTGAGCTCGGGAGTTCG | pathogenic | 306,976 |
A genetic alteration at chromosome 19, position 46756653, in gene FKRP (fukutin related protein)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2I', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A5', 'Muscular_dystrophy-dystroglycanopathy_type_B5', 'Walker-Warburg_congenital_muscular_dystrophy'] | TATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTATTATCTGTATGTTAGTAATAAAGCTTAAATTATTCCATTTTAAAATTATGAATATGAATAGGGTTTTTTTTATGTTTCTTGCCTCATCCCAATGACTTTTGCACACCCAGGTGTGAGCACCCAGCATTCAAGACCACGGGTTAAAAAAAAAAAAAAAAAGCTGGCCGGGCGTGGTGGCTCACGCCTGTGATCCCAACACTTTTGGGAGGCTGAGACAGGAGGAACACTTGAGCTCGGGAGTTCGAGACCAGCCTGAGCAATAG | TATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTATTATCTGTATGTTAGTAATAAAGCTTAAATTATTCCATTTTAAAATTATGAATATGAATAGGGTTTTTTTTATGTTTCTTGCCTCATCCCAATGACTTTTGCACACCCAGGTGTGAGCACCCAGCATTCAAGACCACGGGTTAAAAAAAAAAAAAAAAAGCTGGCCGGGCGTGGTGGCTCACGCCTGTGATCCCAACACTTTTGGGAGGCTGAGACAGGAGGAACACTTGAGCTCGGGAGTTCGAGACCAGCCTGAGCAATA | pathogenic | 306,977 |
A mutation at chromosome position 46756704 on chromosome 19 in gene FKRP (fukutin related protein): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Walker-Warburg_congenital_muscular_dystrophy'] | GAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTATTATCTGTATGTTAGTAATAAAGCTTAAATTATTCCATTTTAAAATTATGAATATGAATAGGGTTTTTTTTATGTTTCTTGCCTCATCCCAATGACTTTTGCACACCCAGGTGTGAGCACCCAGCATTCAAGACCACGGGTTAAAAAAAAAAAAAAAAAGCTGGCCGGGCGTGGTGGCTCACGCCTGTGATCCCAACACTTTTGGGAGGCTGAGACAGGAGGAACACTTGAGCTCGGGAGTTCGAGACCAGCCTGAGCAATAGAGCAAGACTCTTGTCAATTAAAAATAATAAATAAAGCCAGGCATGGTGGCT | GAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTATTATCTGTATGTTAGTAATAAAGCTTAAATTATTCCATTTTAAAATTATGAATATGAATAGGGTTTTTTTTATGTTTCTTGCCTCATCCCAATGACTTTTGCACACCCAGGTGTGAGCACCCAGCATTCAAGACCACGGGTTAAAAAAAAAAAAAAAAAGCTGGCCGGGCGTGGTGGCTCACGCCTGTGATCCCAACACTTTTGGGAGGCTGAGACAGGAGGAACACTTGAGCTCGGGAGTTCGAGACCAGCCTGAGCAATAGAGCAAGACTCTTGTCAATTAAAAATAATAAATAAAGCCAGGCATGGTGGCTNN | pathogenic | 306,981 |
A mutation at chromosome position 46756712 on chromosome 19 in gene FKRP (fukutin related protein): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2I', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A5', 'Walker-Warburg_congenital_muscular_dystrophy'] | TGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTATTATCTGTATGTTAGTAATAAAGCTTAAATTATTCCATTTTAAAATTATGAATATGAATAGGGTTTTTTTTATGTTTCTTGCCTCATCCCAATGACTTTTGCACACCCAGGTGTGAGCACCCAGCATTCAAGACCACGGGTTAAAAAAAAAAAAAAAAAGCTGGCCGGGCGTGGTGGCTCACGCCTGTGATCCCAACACTTTTGGGAGGCTGAGACAGGAGGAACACTTGAGCTCGGGAGTTCGAGACCAGCCTGAGCAATAGAGCAAGACTCTTGTCAATTAAAAATAATAAATAAAGCCAGGCATGGTGGCTCACGCCTA | TGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTATTATCTGTATGTTAGTAATAAAGCTTAAATTATTCCATTTTAAAATTATGAATATGAATAGGGTTTTTTTTATGTTTCTTGCCTCATCCCAATGACTTTTGCACACCCAGGTGTGAGCACCCAGCATTCAAGACCACGGGTTAAAAAAAAAAAAAAAAAGCTGGCCGGGCGTGGTGGCTCACGCCTGTGATCCCAACACTTTTGGGAGGCTGAGACAGGAGGAACACTTGAGCTCGGGAGTTCGAGACCAGCCTGAGCAATAGAGCAAGACTCTTGTCAATTAAAAATAATAAATAAAGCCAGGCATGGTGGCTCACGCCTAN | pathogenic | 306,982 |
Mutation found at chromosome 19 position 46756719, gene FKRP (fukutin related protein): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A5', 'Walker-Warburg_congenital_muscular_dystrophy'] | ATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTATTATCTGTATGTTAGTAATAAAGCTTAAATTATTCCATTTTAAAATTATGAATATGAATAGGGTTTTTTTTATGTTTCTTGCCTCATCCCAATGACTTTTGCACACCCAGGTGTGAGCACCCAGCATTCAAGACCACGGGTTAAAAAAAAAAAAAAAAAGCTGGCCGGGCGTGGTGGCTCACGCCTGTGATCCCAACACTTTTGGGAGGCTGAGACAGGAGGAACACTTGAGCTCGGGAGTTCGAGACCAGCCTGAGCAATAGAGCAAGACTCTTGTCAATTAAAAATAATAAATAAAGCCAGGCATGGTGGCTCACGCCTATAATCCC | ATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCTAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTATTATCTGTATGTTAGTAATAAAGCTTAAATTATTCCATTTTAAAATTATGAATATGAATAGGGTTTTTTTTATGTTTCTTGCCTCATCCCAATGACTTTTGCACACCCAGGTGTGAGCACCCAGCATTCAAGACCACGGGTTAAAAAAAAAAAAAAAAAGCTGGCCGGGCGTGGTGGCTCACGCCTGTGATCCCAACACTTTTGGGAGGCTGAGACAGGAGGAACACTTGAGCTCGGGAGTTCGAGACCAGCCTGAGCAATAGAGCAAGACTCTTGTCAATTAAAAATAATAAATAAAGCCAGGCATGGTGGCTCACGCCTATAATCC | pathogenic | 306,985 |
Gene FKRP (fukutin related protein) variant at chromosome position 46756784 on chromosome 19: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A5', 'Walker-Warburg_congenital_muscular_dystrophy'] | GCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTATTATCTGTATGTTAGTAATAAAGCTTAAATTATTCCATTTTAAAATTATGAATATGAATAGGGTTTTTTTTATGTTTCTTGCCTCATCCCAATGACTTTTGCACACCCAGGTGTGAGCACCCAGCATTCAAGACCACGGGTTAAAAAAAAAAAAAAAAAGCTGGCCGGGCGTGGTGGCTCACGCCTGTGATCCCAACACTTTTGGGAGGCTGAGACAGGAGGAACACTTGAGCTCGGGAGTTCGAGACCAGCCTGAGCAATAGAGCAAGACTCTTGTCAATTAAAAATAATAAATAAAGCCAGGCATGGTGGCTCACGCCTATAATCCCAACACTTTGGGAGCCCAAGGCGGACGGATCACAAGGTCAAGAGATCGAGACCATCCTGGCTAACA | GCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTATTATCTGTATGTTAGTAATAAAGCTTAAATTATTCCATTTTAAAATTATGAATATGAATAGGGTTTTTTTTATGTTTCTTGCCTCATCCCAATGACTTTTGCACACCCAGGTGTGAGCACCCAGCATTCAAGACCACGGGTTAAAAAAAAAAAAAAAAAGCTGGCCGGGCGTGGTGGCTCACGCCTGTGATCCCAACACTTTTGGGAGGCTGAGACAGGAGGAACACTTGAGCTCGGGAGTTCGAGACCAGCCTGAGCAATAGAGCAAGACTCTTGTCAATTAAAAATAATAAATAAAGCCAGGCATGGTGGCTCACGCCTATAATCCCAACACTTTGGGAGCCCAAGGCGGACGGATCACAAGGTCAAGAGATCGAGACCATCCTGGCTAACAN | pathogenic | 306,991 |
A genetic variant on chromosome 19, position 46756784, affects the gene FKRP (fukutin related protein). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A5', 'Walker-Warburg_congenital_muscular_dystrophy'] | GCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTATTATCTGTATGTTAGTAATAAAGCTTAAATTATTCCATTTTAAAATTATGAATATGAATAGGGTTTTTTTTATGTTTCTTGCCTCATCCCAATGACTTTTGCACACCCAGGTGTGAGCACCCAGCATTCAAGACCACGGGTTAAAAAAAAAAAAAAAAAGCTGGCCGGGCGTGGTGGCTCACGCCTGTGATCCCAACACTTTTGGGAGGCTGAGACAGGAGGAACACTTGAGCTCGGGAGTTCGAGACCAGCCTGAGCAATAGAGCAAGACTCTTGTCAATTAAAAATAATAAATAAAGCCAGGCATGGTGGCTCACGCCTATAATCCCAACACTTTGGGAGCCCAAGGCGGACGGATCACAAGGTCAAGAGATCGAGACCATCCTGGCTAACA | GCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTATTATCTGTATGTTAGTAATAAAGCTTAAATTATTCCATTTTAAAATTATGAATATGAATAGGGTTTTTTTTATGTTTCTTGCCTCATCCCAATGACTTTTGCACACCCAGGTGTGAGCACCCAGCATTCAAGACCACGGGTTAAAAAAAAAAAAAAAAAGCTGGCCGGGCGTGGTGGCTCACGCCTGTGATCCCAACACTTTTGGGAGGCTGAGACAGGAGGAACACTTGAGCTCGGGAGTTCGAGACCAGCCTGAGCAATAGAGCAAGACTCTTGTCAATTAAAAATAATAAATAAAGCCAGGCATGGTGGCTCACGCCTATAATCCCAACACTTTGGGAGCCCAAGGCGGACGGATCACAAGGTCAAGAGATCGAGACCATCCTGGCTAACANN | pathogenic | 306,992 |
Variant in gene FKRP (fukutin related protein), located at chromosome 19 position 46756863: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy', 'Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2I', 'Cardiovascular_phenotype', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A5', 'Walker-Warburg_congenital_muscular_dystrophy'] | AGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTATTATCTGTATGTTAGTAATAAAGCTTAAATTATTCCATTTTAAAATTATGAATATGAATAGGGTTTTTTTTATGTTTCTTGCCTCATCCCAATGACTTTTGCACACCCAGGTGTGAGCACCCAGCATTCAAGACCACGGGTTAAAAAAAAAAAAAAAAAGCTGGCCGGGCGTGGTGGCTCACGCCTGTGATCCCAACACTTTTGGGAGGCTGAGACAGGAGGAACACTTGAGCTCGGGAGTTCGAGACCAGCCTGAGCAATAGAGCAAGACTCTTGTCAATTAAAAATAATAAATAAAGCCAGGCATGGTGGCTCACGCCTATAATCCCAACACTTTGGGAGCCCAAGGCGGACGGATCACAAGGTCAAGAGATCGAGACCATCCTGGCTAACACAGTGAAACTCCGTCTCTACTAAAAATACAAAAAATTAGCTGGACATGGTGGCGGGCACCTGTAGTCCCAGCTACTCAG | AGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTATTATCTGTATGTTAGTAATAAAGCTTAAATTATTCCATTTTAAAATTATGAATATGAATAGGGTTTTTTTTATGTTTCTTGCCTCATCCCAATGACTTTTGCACACCCAGGTGTGAGCACCCAGCATTCAAGACCACGGGTTAAAAAAAAAAAAAAAAAGCTGGCCGGGCGTGGTGGCTCACGCCTGTGATCCCAACACTTTTGGGAGGCTGAGACAGGAGGAACACTTGAGCTCGGGAGTTCGAGACCAGCCTGAGCAATAGAGCAAGACTCTTGTCAATTAAAAATAATAAATAAAGCCAGGCATGGTGGCTCACGCCTATAATCCCAACACTTTGGGAGCCCAAGGCGGACGGATCACAAGGTCAAGAGATCGAGACCATCCTGGCTAACACAGTGAAACTCCGTCTCTACTAAAAATACAAAAAATTAGCTGGACATGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGN | pathogenic | 307,003 |
Classify the chromosome 19 variant at position 46850722 affecting gene AP2S1 (adaptor related protein complex 2 subunit sigma 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | GCCTTCTCTCTTAGGAAAGAGAGCCCTCTAGTCCTGTCTTTTTCTTTTCTTTTTTGTTTTCAGACAGTCTCACTCTGTTGCCTAGGCTGGAGTGCAGTGGCACTGTCTCGGTTCACTGCAACCTCTACCTCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTAAGTACCTGGGATTACAGGCGCATGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTTGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGGTTACAGGCGCGAGTCACTGTGCCCAGCCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCCTAGGCCAGTGGCACAATCTCGGCTCACTGCAGCCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCCACCACCACACCTGGCTTATTTTTGTATTTTTAGTAGAGACGGGGTCTCACCACGTTGGCCAGGCTGGTCTCGAACTCCTGACCTTATGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCCCCAGCCTGAGAGTCTTTCCTAAGCCTCATTCTCCACACACTCTATCCTCCCTCCCCCAACCAACCAAACTGGACCGGAACAGGATGTTACACTCTCCTTCCAAGAACTCCTGCTGAGCCAGGGAAAACCACTTCCTAGCAGGGCAGGGGTCCCAGGCAGGAAGGGACGTTGGGGGGCCTACACCAGGCAGCCACAGCCTGGGAGCAGAGCCGGAGACATATTCACACAGTTAGGAGAACTAGAAGCAAACCCACAGAGTTGACAAAAAGCTCTGCCTCTTACTCCCAAATTCCCTTGTATACCTCTCCCTGTTTTCTTCCCATTTGGAATCTCAAGTCCCCTCCGTCCTGAATCTCTGCATCCTCACGCCTCTGCTGTCCCCTCTAGATGCCCCCCAACCTTCCCTGTCTCCAATCCCCCTCCTCTGGAGTTGTTCCCTTTTGACCTCCACTTTCTCAGTCTCAGTTCCCCTCCTTGGGGCCTCAATGGGCTTTTTACTGGTGACATCCCTTGTCCCACTCCCAAGCTTCCTCCCTTCTTCAAAAGGTCACATTTTGCCTCCAAGGACCCTGTTCCTGGAGGAGACTCCGCCCCCGCTCTGACACTCTTTCTCATTCGTTTTCTTTCCCAACTTCCAGCCCAAAGAACCCTTTCCTAGATCCAAAGCCCCAACCTGGGGGATAGGGGCACTCCTAAATCCAATGTTGAGTCTTTGCCCCAACAAAGATTCCTCCCCAGGTCTCACACTTTCAAGCCTACTCCCCACCCCACAAGATCTCTCCTCTTGGAAAGACCTATTCAGTTGCTCCCCATTCTTTCCGAGTGTCCATCTTACCTCCAGGTCCTCTCTCCTTTTACAGCGCTTTCCCAGACCCTTAAGTTTCATTCCCTACAGTTGCCTCCTTTTGGTTTCCTGTGCCAGGTCTCTTCTTGAGATCATCCCTCTCTCACAGGCAGTCTCCTGCCCCTGTCTCAACATCCCCTCTCCACCTGCAATCAGATCCTTGTCTCTAGAGACTCCTCCCATCAAGAAAACCTCCCTCCCCTTTTCCAAGGTCTCGCGTTCTCGTCCCAGCGCTCCCGCCACACTTCCAGAGCGCCTTCCTCTTTCGGACGCCCTCTCCCCACCTCCAATGCCTTCTCGCTACCCACAAGACTGTGTCTCACGAGTTTCCTCTCGTTTCAAAGCTTCCAACCATCTACAACGTTTCCCACCTGCACAGCCCTTTCCCCTTGGAACACCACCCCCAATGCCCGTCGCCGCGAGACCCCTGGTAACCCCCGCGCGCAGAATCACCGCCCTGTGCCCTCCTTCCCGGCCCTGGATCGGTCCCAATCCCCAGAGCCCGCGCCTGACCCAGACCATCCGCGGCAGAGAAGGGACTTGTCAGCGCCCGATCCAGCCTCGGCTATTTACGCGTGGGCCCCCCCTCCGCCAGTCCCCGGCGTAGCGCTCCCCCGTTACCATGGCGACCCCCGTCCAGACCCCAGCGGCCCCGGTCCCGCGGCGACTGGGCAGCTCCGGCTCAGGGTGCAGTTGTAGGGCCCAGAGCTAGAGCGGACTTCCGGTAGAAAAACCCGCCTGCCTTCTCGCGCACAGACCCCTGGGAGTTGTAGTTTCACCAAAGGGGCCAGCCTGGGTGAAGATGGGTGAAGAGTCAGAGCCAGTCCTTTTCCTACCAAACGAGTCAGATCCCAAGTGCATGCTGGGATTTGTGGACAAACATCTTTACAGAGGACTACAATTCCCGAGATGCTGAAGAACCAGCGGTGAAGGCGTTGCATTCAGGGAAATGTAGTTCTCTTAGGTCCCCTCCCCCCACCCAGGGGAGAAGGGCATGCTGGGAATAGTAGTTTTAAATTTTAAAAAACTGTCCTGGGGAGATAGAAAATGTCTTTCCATTCCTCATCCAGTGATTTCTTTAATTTTTTTAAAAATAGAGACAGGGGTCTAGATATATTGCCTAGGTTGATCTCGAACTCAGCTTCAAGCGACCCTCAGCCTTCCAAATCACCAGGATTACAGGCATGAGCCACCACAACACCAAGCCAGTGTTTTGCTTAAAATACGTTGCGTGTGTCTCTCGGGAGACAACAGTTTAAAAGCATAAATTTGAACCGGCCCGGCGCGGTGGCTTACTCCTGTAATCCCAGCACTTTGGGAGTCCGAGGCAGGCAGATCACTTGGTTAGGAGTTCGAGACCAGCCTAGCCAGCATGGCGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAAGCCCGGAGGCAGAGGTTGCAGTGAGCCCAGATCTCGCCACTGCACTCCAGCCTGGGCAATAGAGAGAGACTCCAAAAAAAAAAAAAAATCTCTAGTTTGGCGGGGGCATGATGGCCCATGCTTGTAATCCCAGCACTTTGAGAAGCTGAGGTGGGTGGATCACCTAAGGTCAGGACTTCGAGACCAGCATGGCCAACACGGTGAAACCATTTCTACTAAAAATATAAAAATTAGCTGGGTGTGATGGCAGGTGCCTGTAATCCCAGCAACTCGGGAAGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCATTGCACCCTAGCTGGAATGACAAGAGCGAAACTCTGTCAAAAAAAAAAAAAACCCTCCAGGTCAGCAGTTAGTTTAGTGTTTTTTTGGTGTGTCTTTGTTTTTGCTTTTTTCTGAAAGAGGGTCTCCCTTGGTCACCCAGGCTGTAGCGCAGTGGCATGATCTCAGCTCACTGAAGCCTCAACCTGCTGGGCTCAAGTGATCCTCCCACTTCAGCCTCCCGAGTAGCTGAGACTACATACACATGCCGTCACACCTGGCTAATTTTTTGTACTTTTTGTAGAGACAGGGTCTTGCTATGTTGCCTAGGCTGCTCTTGAACTCCTGAGCTCAAGCGATCCTCCCTCCTCCACCTCCCAAAGTATTGAGATTACAGGCGTGATTTTTTAAATGGCCTTTATTACATTTTAAAAATTATTTTATTTGCCCTATGAGTATGTGTGTATGTTTGTCTAGATCTCTCATTAGGTAGTGAGTTGTTGAGGGCAGGGACCCTGTCTGATAACTGTATCTTCATTACCTAGAACATGACAGATGGTAAGCAGTCAATAAAGTTATTACTATTAGTACTGAGGGGAGATTGGCCCTAATAAGAACAAAGCATGCCAGGCATGGTGGCTCACTCCAGTAATCTCAGCACTTTGGAATGCCAAGGCAGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGCCCAACGTGGCGAAACAGCACCTCTAATAAAAATACAAAAATTGGCCGGGCTTGGTAGCACTTGCCTGTAATACCAGCTACTTGGGAGGCTGAGGCAGGAGAAGCACTTGAACCC | GCCTTCTCTCTTAGGAAAGAGAGCCCTCTAGTCCTGTCTTTTTCTTTTCTTTTTTGTTTTCAGACAGTCTCACTCTGTTGCCTAGGCTGGAGTGCAGTGGCACTGTCTCGGTTCACTGCAACCTCTACCTCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTAAGTACCTGGGATTACAGGCGCATGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTTGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGGTTACAGGCGCGAGTCACTGTGCCCAGCCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCCTAGGCCAGTGGCACAATCTCGGCTCACTGCAGCCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCCACCACCACACCTGGCTTATTTTTGTATTTTTAGTAGAGACGGGGTCTCACCACGTTGGCCAGGCTGGTCTCGAACTCCTGACCTTATGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCCCCAGCCTGAGAGTCTTTCCTAAGCCTCATTCTCCACACACTCTATCCTCCCTCCCCCAACCAACCAAACTGGACCGGAACAGGATGTTACACTCTCCTTCCAAGAACTCCTGCTGAGCCAGGGAAAACCACTTCCTAGCAGGGCAGGGGTCCCAGGCAGGAAGGGACGTTGGGGGGCCTACACCAGGCAGCCACAGCCTGGGAGCAGAGCCGGAGACATATTCACACAGTTAGGAGAACTAGAAGCAAACCCACAGAGTTGACAAAAAGCTCTGCCTCTTACTCCCAAATTCCCTTGTATACCTCTCCCTGTTTTCTTCCCATTTGGAATCTCAAGTCCCCTCCGTCCTGAATCTCTGCATCCTCACGCCTCTGCTGTCCCCTCTAGATGCCCCCCAACCTTCCCTGTCTCCAATCCCCCTCCTCTGGAGTTGTTCCCTTTTGACCTCCACTTTCTCAGTCTCAGTTCCCCTCCTTGGGGCCTCAATGGGCTTTTTACTGGTGACATCCCTTGTCCCACTCCCAAGCTTCCTCCCTTCTTCAAAAGGTCACATTTTGCCTCCAAGGACCCTGTTCCTGGAGGAGACTCCGCCCCCGCTCTGACACTCTTTCTCATTCGTTTTCTTTCCCAACTTCCAGCCCAAAGAACCCTTTCCTAGATCCAAAGCCCCAACCTGGGGGATAGGGGCACTCCTAAATCCAATGTTGAGTCTTTGCCCCAACAAAGATTCCTCCCCAGGTCTCACACTTTCAAGCCTACTCCCCACCCCACAAGATCTCTCCTCTTGGAAAGACCTATTCAGTTGCTCCCCATTCTTTCCGAGTGTCCATCTTACCTCCAGGTCCTCTCTCCTTTTACAGCGCTTTCCCAGACCCTTAAGTTTCATTCCCTACAGTTGCCTCCTTTTGGTTTCCTGTGCCAGGTCTCTTCTTGAGATCATCCCTCTCTCACAGGCAGTCTCCTGCCCCTGTCTCAACATCCCCTCTCCACCTGCAATCAGATCCTTGTCTCTAGAGACTCCTCCCATCAAGAAAACCTCCCTCCCCTTTTCCAAGGTCTCGCGTTCTCGTCCCAGCGCTCCCGCCACACTTCCAGAGCGCCTTCCTCTTTCGGACGCCCTCTCCCCACCTCCAATGCCTTCTCGCTACCCACAAGACTGTGTCTCACGAGTTTCCTCTCGTTTCAAAGCTTCCAACCATCTACAACGTTTCCCACCTGCACAGCCCTTTCCCCTTGGAACACCACCCCCAATGCCCGTCGCCGCGAGACCCCTGGTAACCCCCGCGCGCAGAATCACCGCCCTGTGCCCTCCTTCCCGGCCCTGGATCGGTCCCAATCCCCAGAGCCCGCGCCTGACCCAGACCATCCGCGGCAGAGAAGGGACTTGTCAGCGCCCGATCCAGCCTCGGCTATTTACGCGTGGGCCCCCCCCTCCGCCAGTCCCCGGCGTAGCGCTCCCCCGTTACCATGGCGACCCCCGTCCAGACCCCAGCGGCCCCGGTCCCGCGGCGACTGGGCAGCTCCGGCTCAGGGTGCAGTTGTAGGGCCCAGAGCTAGAGCGGACTTCCGGTAGAAAAACCCGCCTGCCTTCTCGCGCACAGACCCCTGGGAGTTGTAGTTTCACCAAAGGGGCCAGCCTGGGTGAAGATGGGTGAAGAGTCAGAGCCAGTCCTTTTCCTACCAAACGAGTCAGATCCCAAGTGCATGCTGGGATTTGTGGACAAACATCTTTACAGAGGACTACAATTCCCGAGATGCTGAAGAACCAGCGGTGAAGGCGTTGCATTCAGGGAAATGTAGTTCTCTTAGGTCCCCTCCCCCCACCCAGGGGAGAAGGGCATGCTGGGAATAGTAGTTTTAAATTTTAAAAAACTGTCCTGGGGAGATAGAAAATGTCTTTCCATTCCTCATCCAGTGATTTCTTTAATTTTTTTAAAAATAGAGACAGGGGTCTAGATATATTGCCTAGGTTGATCTCGAACTCAGCTTCAAGCGACCCTCAGCCTTCCAAATCACCAGGATTACAGGCATGAGCCACCACAACACCAAGCCAGTGTTTTGCTTAAAATACGTTGCGTGTGTCTCTCGGGAGACAACAGTTTAAAAGCATAAATTTGAACCGGCCCGGCGCGGTGGCTTACTCCTGTAATCCCAGCACTTTGGGAGTCCGAGGCAGGCAGATCACTTGGTTAGGAGTTCGAGACCAGCCTAGCCAGCATGGCGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAAGCCCGGAGGCAGAGGTTGCAGTGAGCCCAGATCTCGCCACTGCACTCCAGCCTGGGCAATAGAGAGAGACTCCAAAAAAAAAAAAAAATCTCTAGTTTGGCGGGGGCATGATGGCCCATGCTTGTAATCCCAGCACTTTGAGAAGCTGAGGTGGGTGGATCACCTAAGGTCAGGACTTCGAGACCAGCATGGCCAACACGGTGAAACCATTTCTACTAAAAATATAAAAATTAGCTGGGTGTGATGGCAGGTGCCTGTAATCCCAGCAACTCGGGAAGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCATTGCACCCTAGCTGGAATGACAAGAGCGAAACTCTGTCAAAAAAAAAAAAAACCCTCCAGGTCAGCAGTTAGTTTAGTGTTTTTTTGGTGTGTCTTTGTTTTTGCTTTTTTCTGAAAGAGGGTCTCCCTTGGTCACCCAGGCTGTAGCGCAGTGGCATGATCTCAGCTCACTGAAGCCTCAACCTGCTGGGCTCAAGTGATCCTCCCACTTCAGCCTCCCGAGTAGCTGAGACTACATACACATGCCGTCACACCTGGCTAATTTTTTGTACTTTTTGTAGAGACAGGGTCTTGCTATGTTGCCTAGGCTGCTCTTGAACTCCTGAGCTCAAGCGATCCTCCCTCCTCCACCTCCCAAAGTATTGAGATTACAGGCGTGATTTTTTAAATGGCCTTTATTACATTTTAAAAATTATTTTATTTGCCCTATGAGTATGTGTGTATGTTTGTCTAGATCTCTCATTAGGTAGTGAGTTGTTGAGGGCAGGGACCCTGTCTGATAACTGTATCTTCATTACCTAGAACATGACAGATGGTAAGCAGTCAATAAAGTTATTACTATTAGTACTGAGGGGAGATTGGCCCTAATAAGAACAAAGCATGCCAGGCATGGTGGCTCACTCCAGTAATCTCAGCACTTTGGAATGCCAAGGCAGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGCCCAACGTGGCGAAACAGCACCTCTAATAAAAATACAAAAATTGGCCGGGCTTGGTAGCACTTGCCTGTAATACCAGCTACTTGGGAGGCTGAGGCAGGAGAAGCACTTGAACC | benign | 307,036 |
Regarding the variant at chromosome 19 and position 47479918, affecting gene KPTN (kaptin, actin binding protein): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Inborn_genetic_diseases', 'KPTN-related_disorder', 'Macrocephaly-developmental_delay_syndrome'] | GTCAACATGATAAAACCCCGCCTCTACTAAAAACACAAAAATTAGCCGGGCATGGTGGCGGGCACCTGTAATGCCAGCTACTCAGGAGGCTGAGGCAGGAGACTTGCTTGAACCTGGGAGGCGGAGGTTGGAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAGAAAAAGAAAAAAAAAAAAAGAAACATGAATGAATAGGGGAAAGGTTTTGTGGGGACAGGTTCCAGGCTCCTCGTCATACCCCAGGCCCCTTTAATGAGAGACATGCAGGTTAGATCTCAGGAAAAAGTCTTGAGGCTGTGCTACACAGGGAGGGTTAGAGATTGGCCCATGAGACAAATTATAAGTCAGACACCAGAAGGAGAAATAGGTGTTAGATGATGGCTTAAAAAGTCTGAGGTTCTGGGTGTGGTGGCTCATGTAATCCCAGCACTTTTGGAGGCCGAGGCAGGCGGATCACCTGAGGTCAAGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCTGTGTCTACTAAAAACACAAAAATTAGCCTGGCATGATGGCATACACTTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTGATAGTGAGCCGAGATTGTGCCACTGCAACCAGCCTGACCAAGACTCTGTCTAAAAAAAAAAAAAAAAAAAAAGACATTTGTGCATGTATGTTTACAACAGCCCAATTCACAACTGCAAAGATGTGGAACTAACCTAAGTGGCCATTGACTAATGAGTGGAGAAAGAAAATGTGGTATATATACACCATGGAGTACTACTCAAGTCATAAAAATGTTGTCTTTTGCAGCAACTTAGATGGAACTGGAGACCATTATTCTAAGTGCAGTAACATAGGAGTGGAAAACCAAAAAATGTATGTTCTCACAGAAGAGGGGGCCAACCTATGAGTATGCAAAGGCATACAGAGTGTATAATGGTGTTTGGAGATTCAGAAGCAGGAAGGTGGGAGGCGGTGTGGGATAGAAGCTACACATTAGGTACAACGGACACTAGCTGGGTGATGGGTGTGCTAAGATCTCAGAATCCATCACTATAGAATTCATCCATGCAACCAAAACCACTTGTGTCCCCGAAGTGATTGAAATAATTTTTTTTTTCTTTTTTGAGATGGAGCCTGGCTCCGCCACCCAGGCTGGAGTGCAGTGGTGAGATCTCAGCTCACTGCCACTTCCACATCCTGGGTTCAATCGATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACGCTCCACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTGGTCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCGTCCGCTTCGGCCTCCCAAAGTGCTGGGATTACCGCGCCTAGTCAAAACTTTTTTAAAAAAGCAAAATGCCAGTCAGGGACAGACCCCAGTAAAGGAGCAGGAATGATCAACATATTGGGGGAAAAGGCTAGACTCTGAGTGGTGGGACAGCGGTGAGTCCAGGAGCATAGCCGGGAGCTAGAATGCAACAAGAGACACAGTGAAGGGGCCACAGAGCGGGGTGAGGAAATACCGATGTGAGACGTGCAGGTTAGAGTACAGAGGGAGAGGTGGATGCTCAGCCCCAGGGTACGGGGCTAAGGTTACACCAAAGTGAGGAGAACAACTATGGACCCTAACAGAAAAGATATGGGTTAGGCCCCATGTGCCAGTCCTGGAAGTTAAATTCACAAGAGGGGAGGGGAGGGAAGAGGTGCACTGTAGCTCAAGGCCTGGAGTGGGGGATCCAGGAGAGAGGGACTGGGGTCTGCACACTTTGGGAGAGGGGTGCAAATCTGGGTAGAAGGACCCAAGAATGCAGAGTTGCCTCTTCCCTCCCACCCGCTCTCTCCCCATCCCCTCAAACCCAGAGCTCACCCTTGGCGGCCGAGAGGCTGAACACAATCACTCGGGAGATGGGACCGTCCTGCAGGACCGACCACATCTGCAGAACCTCTGCGTGGAGAGCGAGGATTCAGAGCCCCAACCCCACCCCGGTCCCGCCCGCAGCCCTGAAACCATCGACTTTCCGCCCCCACCGTTCATCCCCACCCTAGCCCCGCCCCTCTGAAGCCCTCAACCCCACCCTAGCCCCGCCCCCAATCCCCACCCTCATCCCTTCCCCCACTTCCCCTACCTCACCCAGCAATAGCCCTCGGCCCCACCCTAGCCCCACCCGGCAAGCCCCACCCTCATCCCTCAACCCACTTATCCTCCTCCCCTACCCCACCCAGCTCCAGCCCTCAGCCCCACCCTGGCCCCGCCCTCTAGCCCTCAACCCCACCCCTTACCCCGCCTCACCGCGGCCCTCACCTCGACTCCGCTGGTCCACGTGGGCGACACGGACATAACCACTCTGACAGCCCAGAGCTGAGAGGCGCCGGGACGTGCCGGGGAAGTTGTGGACGTCCAGCCAGAGGACGCTGGCGGGCGGGTGGATGGACAGGACGGACGGCCATTGCTGGGCCCAGCCCCGCCCCTCTGCCTCCCCAGGGGCAGCCGCCCCTCCCTGTAGCCCTGGGACCCTGCTGCTTGATTCCTCCTGGATAATCCCCACCGCCCAATTCCTCTGAGGTCAATTCTCACCACCCGAGGGCTGAGTCCACCTCTTGTTTTTTCTGGGGTCACCCCTGCTGATCAATTTCTCTGAAGTCATGCCGTGGACTGATTTTTCTGAGCTCCTCCCCGGTGACCAATTTCTCTAAGGTCTCACCGCCCGATTTCTCTGATGTCAGTGCCCCGGTCCCCAGTGGCCTCTTTCGGGGCCTCTCCTACCTACTGGTCAGGTTCGTCAGCTCTGGGAAGAGGTTTTCCACGGGCTGTTCCTCAAACTGATGCAGCCCCTCGTTCTGGGGAAACCAAGACCCACCCCACCCCCGCTTAAGTCAGCCGTCAGCTTCACACATATACCCACCCAGCGCCAGCCCACAGTGAATCCCACAGGGCTCTGCCCAGCACGCCGCCCCACCTCACCTCCTTGTAGAGATGAATGGCCGGGTCGTTCCCACTCAAGAGAAACACAGTCTCAAGTTGATCCCCGACCTGGACCCTGAAAGCAGAGAAATCTAGAACCCAAGGTAGTGGAATCCACATGGTCTGAGAACCAGAACTCTCCTCTTGCAAAAACCCCTGCCTGTTGAGAACCTTAACATTCTGGGATCCAGACACTAGACCCAGGGTTAGAATCTCAGGGCTCAAGCTCCTGAGTACTGTATCTCCTTGAAATACATAACTGTAGAAACGAGCCCTCATAGAATCTCAAAATCAAGGAATGTACCTCCCAATCTCAGAATTGCGGGAACATGGCTTGCTAGAACCTCCCGCTCTTAGAGCCCGCATCTACTCCTACCTTCACTCTGTGGATTCAGGAATCGAATGTGGAACTCTAGAATGAACTGCAGAACCTTAGAAAGCTAGGACCTCTTCATTCTGAAACCCTGGTATTCTAGAAGTGCTGTTTTCTGTCTCCTTAAAAATACAAGAACTTCTAGAATTTGCCATCATAGATTTCAGATTCACGGAATGATAGAATATCCAAATCCTAGCAAGGAGAACATTAGTGCAATTAGAATCTTCAGTTTTGGGGACTCTCACCTGTTAGACCAGAGGTTGGCCAAGTTATGACCTGCAGACCAAATCCAACCCACCATCTGTTTTTGTAAATAAAGTTTTATTGGAACATAGCCACATCCATTCATTTATAGTGTCAATGGCTGCTTTCTGGCTACAATGGCAAAGTGAGTAGTTGTGACAGACTGGCCCTCAAAGCCTAATATTTACTATCTGGATCTCTACCAAAAAAAGTTTGCCAATCCCTGTTCTAGACCATCTGTGTTCTGGAATGGAATCTGGAACTCTAGAATGGAACCCACACACTTTGGGGTTCTAGCACCTTGGTATTCTAGATGCTCTATGTTCTATCTCCTCGAAAGATGAGAATGTCAGGACTTTATCATTACAGAACCTCAGAAGATTCTGGCT | GTCAACATGATAAAACCCCGCCTCTACTAAAAACACAAAAATTAGCCGGGCATGGTGGCGGGCACCTGTAATGCCAGCTACTCAGGAGGCTGAGGCAGGAGACTTGCTTGAACCTGGGAGGCGGAGGTTGGAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAGAAAAAGAAAAAAAAAAAAAGAAACATGAATGAATAGGGGAAAGGTTTTGTGGGGACAGGTTCCAGGCTCCTCGTCATACCCCAGGCCCCTTTAATGAGAGACATGCAGGTTAGATCTCAGGAAAAAGTCTTGAGGCTGTGCTACACAGGGAGGGTTAGAGATTGGCCCATGAGACAAATTATAAGTCAGACACCAGAAGGAGAAATAGGTGTTAGATGATGGCTTAAAAAGTCTGAGGTTCTGGGTGTGGTGGCTCATGTAATCCCAGCACTTTTGGAGGCCGAGGCAGGCGGATCACCTGAGGTCAAGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCTGTGTCTACTAAAAACACAAAAATTAGCCTGGCATGATGGCATACACTTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTGATAGTGAGCCGAGATTGTGCCACTGCAACCAGCCTGACCAAGACTCTGTCTAAAAAAAAAAAAAAAAAAAAAGACATTTGTGCATGTATGTTTACAACAGCCCAATTCACAACTGCAAAGATGTGGAACTAACCTAAGTGGCCATTGACTAATGAGTGGAGAAAGAAAATGTGGTATATATACACCATGGAGTACTACTCAAGTCATAAAAATGTTGTCTTTTGCAGCAACTTAGATGGAACTGGAGACCATTATTCTAAGTGCAGTAACATAGGAGTGGAAAACCAAAAAATGTATGTTCTCACAGAAGAGGGGGCCAACCTATGAGTATGCAAAGGCATACAGAGTGTATAATGGTGTTTGGAGATTCAGAAGCAGGAAGGTGGGAGGCGGTGTGGGATAGAAGCTACACATTAGGTACAACGGACACTAGCTGGGTGATGGGTGTGCTAAGATCTCAGAATCCATCACTATAGAATTCATCCATGCAACCAAAACCACTTGTGTCCCCGAAGTGATTGAAATAATTTTTTTTTTCTTTTTTGAGATGGAGCCTGGCTCCGCCACCCAGGCTGGAGTGCAGTGGTGAGATCTCAGCTCACTGCCACTTCCACATCCTGGGTTCAATCGATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACGCTCCACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTGGTCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCGTCCGCTTCGGCCTCCCAAAGTGCTGGGATTACCGCGCCTAGTCAAAACTTTTTTAAAAAAGCAAAATGCCAGTCAGGGACAGACCCCAGTAAAGGAGCAGGAATGATCAACATATTGGGGGAAAAGGCTAGACTCTGAGTGGTGGGACAGCGGTGAGTCCAGGAGCATAGCCGGGAGCTAGAATGCAACAAGAGACACAGTGAAGGGGCCACAGAGCGGGGTGAGGAAATACCGATGTGAGACGTGCAGGTTAGAGTACAGAGGGAGAGGTGGATGCTCAGCCCCAGGGTACGGGGCTAAGGTTACACCAAAGTGAGGAGAACAACTATGGACCCTAACAGAAAAGATATGGGTTAGGCCCCATGTGCCAGTCCTGGAAGTTAAATTCACAAGAGGGGAGGGGAGGGAAGAGGTGCACTGTAGCTCAAGGCCTGGAGTGGGGGATCCAGGAGAGAGGGACTGGGGTCTGCACACTTTGGGAGAGGGGTGCAAATCTGGGTAGAAGGACCCAAGAATGCAGAGTTGCCTCTTCCCTCCCACCCGCTCTCTCCCCATCCCCTCAAACCCAGAGCTCACCCTTGGCGGCCGAGAGGCTGAACACAATCACTCGGGAGATGGGACCGTCCTGCAGGACCGACCACATCTGCAGAACCGACCACATCTGCAGAACCTCTGCGTGGAGAGCGAGGATTCAGAGCCCCAACCCCACCCCGGTCCCGCCCGCAGCCCTGAAACCATCGACTTTCCGCCCCCACCGTTCATCCCCACCCTAGCCCCGCCCCTCTGAAGCCCTCAACCCCACCCTAGCCCCGCCCCCAATCCCCACCCTCATCCCTTCCCCCACTTCCCCTACCTCACCCAGCAATAGCCCTCGGCCCCACCCTAGCCCCACCCGGCAAGCCCCACCCTCATCCCTCAACCCACTTATCCTCCTCCCCTACCCCACCCAGCTCCAGCCCTCAGCCCCACCCTGGCCCCGCCCTCTAGCCCTCAACCCCACCCCTTACCCCGCCTCACCGCGGCCCTCACCTCGACTCCGCTGGTCCACGTGGGCGACACGGACATAACCACTCTGACAGCCCAGAGCTGAGAGGCGCCGGGACGTGCCGGGGAAGTTGTGGACGTCCAGCCAGAGGACGCTGGCGGGCGGGTGGATGGACAGGACGGACGGCCATTGCTGGGCCCAGCCCCGCCCCTCTGCCTCCCCAGGGGCAGCCGCCCCTCCCTGTAGCCCTGGGACCCTGCTGCTTGATTCCTCCTGGATAATCCCCACCGCCCAATTCCTCTGAGGTCAATTCTCACCACCCGAGGGCTGAGTCCACCTCTTGTTTTTTCTGGGGTCACCCCTGCTGATCAATTTCTCTGAAGTCATGCCGTGGACTGATTTTTCTGAGCTCCTCCCCGGTGACCAATTTCTCTAAGGTCTCACCGCCCGATTTCTCTGATGTCAGTGCCCCGGTCCCCAGTGGCCTCTTTCGGGGCCTCTCCTACCTACTGGTCAGGTTCGTCAGCTCTGGGAAGAGGTTTTCCACGGGCTGTTCCTCAAACTGATGCAGCCCCTCGTTCTGGGGAAACCAAGACCCACCCCACCCCCGCTTAAGTCAGCCGTCAGCTTCACACATATACCCACCCAGCGCCAGCCCACAGTGAATCCCACAGGGCTCTGCCCAGCACGCCGCCCCACCTCACCTCCTTGTAGAGATGAATGGCCGGGTCGTTCCCACTCAAGAGAAACACAGTCTCAAGTTGATCCCCGACCTGGACCCTGAAAGCAGAGAAATCTAGAACCCAAGGTAGTGGAATCCACATGGTCTGAGAACCAGAACTCTCCTCTTGCAAAAACCCCTGCCTGTTGAGAACCTTAACATTCTGGGATCCAGACACTAGACCCAGGGTTAGAATCTCAGGGCTCAAGCTCCTGAGTACTGTATCTCCTTGAAATACATAACTGTAGAAACGAGCCCTCATAGAATCTCAAAATCAAGGAATGTACCTCCCAATCTCAGAATTGCGGGAACATGGCTTGCTAGAACCTCCCGCTCTTAGAGCCCGCATCTACTCCTACCTTCACTCTGTGGATTCAGGAATCGAATGTGGAACTCTAGAATGAACTGCAGAACCTTAGAAAGCTAGGACCTCTTCATTCTGAAACCCTGGTATTCTAGAAGTGCTGTTTTCTGTCTCCTTAAAAATACAAGAACTTCTAGAATTTGCCATCATAGATTTCAGATTCACGGAATGATAGAATATCCAAATCCTAGCAAGGAGAACATTAGTGCAATTAGAATCTTCAGTTTTGGGGACTCTCACCTGTTAGACCAGAGGTTGGCCAAGTTATGACCTGCAGACCAAATCCAACCCACCATCTGTTTTTGTAAATAAAGTTTTATTGGAACATAGCCACATCCATTCATTTATAGTGTCAATGGCTGCTTTCTGGCTACAATGGCAAAGTGAGTAGTTGTGACAGACTGGCCCTCAAAGCCTAATATTTACTATCTGGATCTCTACCAAAAAAAGTTTGCCAATCCCTGTTCTAGACCATCTGTGTTCTGGAATGGAATCTGGAACTCTAGAATGGAACCCACACACTTTGGGGTTCTAGCACCTTGGTATTCTAGATGCTCTATGTTCTATCTCCTCGAAAGATGAGAATGTCAGGACTTTATCATTACAGAA | pathogenic | 307,081 |
Does the variant impacting KPTN (kaptin, actin binding protein) on chromosome 19, position 47480760, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Macrocephaly-developmental_delay_syndrome'] | TACTCAAGTCATAAAAATGTTGTCTTTTGCAGCAACTTAGATGGAACTGGAGACCATTATTCTAAGTGCAGTAACATAGGAGTGGAAAACCAAAAAATGTATGTTCTCACAGAAGAGGGGGCCAACCTATGAGTATGCAAAGGCATACAGAGTGTATAATGGTGTTTGGAGATTCAGAAGCAGGAAGGTGGGAGGCGGTGTGGGATAGAAGCTACACATTAGGTACAACGGACACTAGCTGGGTGATGGGTGTGCTAAGATCTCAGAATCCATCACTATAGAATTCATCCATGCAACCAAAACCACTTGTGTCCCCGAAGTGATTGAAATAATTTTTTTTTTCTTTTTTGAGATGGAGCCTGGCTCCGCCACCCAGGCTGGAGTGCAGTGGTGAGATCTCAGCTCACTGCCACTTCCACATCCTGGGTTCAATCGATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACGCTCCACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTGGTCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCGTCCGCTTCGGCCTCCCAAAGTGCTGGGATTACCGCGCCTAGTCAAAACTTTTTTAAAAAAGCAAAATGCCAGTCAGGGACAGACCCCAGTAAAGGAGCAGGAATGATCAACATATTGGGGGAAAAGGCTAGACTCTGAGTGGTGGGACAGCGGTGAGTCCAGGAGCATAGCCGGGAGCTAGAATGCAACAAGAGACACAGTGAAGGGGCCACAGAGCGGGGTGAGGAAATACCGATGTGAGACGTGCAGGTTAGAGTACAGAGGGAGAGGTGGATGCTCAGCCCCAGGGTACGGGGCTAAGGTTACACCAAAGTGAGGAGAACAACTATGGACCCTAACAGAAAAGATATGGGTTAGGCCCCATGTGCCAGTCCTGGAAGTTAAATTCACAAGAGGGGAGGGGAGGGAAGAGGTGCACTGTAGCTCAAGGCCTGGAGTGGGGGATCCAGGAGAGAGGGACTGGGGTCTGCACACTTTGGGAGAGGGGTGCAAATCTGGGTAGAAGGACCCAAGAATGCAGAGTTGCCTCTTCCCTCCCACCCGCTCTCTCCCCATCCCCTCAAACCCAGAGCTCACCCTTGGCGGCCGAGAGGCTGAACACAATCACTCGGGAGATGGGACCGTCCTGCAGGACCGACCACATCTGCAGAACCTCTGCGTGGAGAGCGAGGATTCAGAGCCCCAACCCCACCCCGGTCCCGCCCGCAGCCCTGAAACCATCGACTTTCCGCCCCCACCGTTCATCCCCACCCTAGCCCCGCCCCTCTGAAGCCCTCAACCCCACCCTAGCCCCGCCCCCAATCCCCACCCTCATCCCTTCCCCCACTTCCCCTACCTCACCCAGCAATAGCCCTCGGCCCCACCCTAGCCCCACCCGGCAAGCCCCACCCTCATCCCTCAACCCACTTATCCTCCTCCCCTACCCCACCCAGCTCCAGCCCTCAGCCCCACCCTGGCCCCGCCCTCTAGCCCTCAACCCCACCCCTTACCCCGCCTCACCGCGGCCCTCACCTCGACTCCGCTGGTCCACGTGGGCGACACGGACATAACCACTCTGACAGCCCAGAGCTGAGAGGCGCCGGGACGTGCCGGGGAAGTTGTGGACGTCCAGCCAGAGGACGCTGGCGGGCGGGTGGATGGACAGGACGGACGGCCATTGCTGGGCCCAGCCCCGCCCCTCTGCCTCCCCAGGGGCAGCCGCCCCTCCCTGTAGCCCTGGGACCCTGCTGCTTGATTCCTCCTGGATAATCCCCACCGCCCAATTCCTCTGAGGTCAATTCTCACCACCCGAGGGCTGAGTCCACCTCTTGTTTTTTCTGGGGTCACCCCTGCTGATCAATTTCTCTGAAGTCATGCCGTGGACTGATTTTTCTGAGCTCCTCCCCGGTGACCAATTTCTCTAAGGTCTCACCGCCCGATTTCTCTGATGTCAGTGCCCCGGTCCCCAGTGGCCTCTTTCGGGGCCTCTCCTACCTACTGGTCAGGTTCGTCAGCTCTGGGAAGAGGTTTTCCACGGGCTGTTCCTCAAACTGATGCAGCCCCTCGTTCTGGGGAAACCAAGACCCACCCCACCCCCGCTTAAGTCAGCCGTCAGCTTCACACATATACCCACCCAGCGCCAGCCCACAGTGAATCCCACAGGGCTCTGCCCAGCACGCCGCCCCACCTCACCTCCTTGTAGAGATGAATGGCCGGGTCGTTCCCACTCAAGAGAAACACAGTCTCAAGTTGATCCCCGACCTGGACCCTGAAAGCAGAGAAATCTAGAACCCAAGGTAGTGGAATCCACATGGTCTGAGAACCAGAACTCTCCTCTTGCAAAAACCCCTGCCTGTTGAGAACCTTAACATTCTGGGATCCAGACACTAGACCCAGGGTTAGAATCTCAGGGCTCAAGCTCCTGAGTACTGTATCTCCTTGAAATACATAACTGTAGAAACGAGCCCTCATAGAATCTCAAAATCAAGGAATGTACCTCCCAATCTCAGAATTGCGGGAACATGGCTTGCTAGAACCTCCCGCTCTTAGAGCCCGCATCTACTCCTACCTTCACTCTGTGGATTCAGGAATCGAATGTGGAACTCTAGAATGAACTGCAGAACCTTAGAAAGCTAGGACCTCTTCATTCTGAAACCCTGGTATTCTAGAAGTGCTGTTTTCTGTCTCCTTAAAAATACAAGAACTTCTAGAATTTGCCATCATAGATTTCAGATTCACGGAATGATAGAATATCCAAATCCTAGCAAGGAGAACATTAGTGCAATTAGAATCTTCAGTTTTGGGGACTCTCACCTGTTAGACCAGAGGTTGGCCAAGTTATGACCTGCAGACCAAATCCAACCCACCATCTGTTTTTGTAAATAAAGTTTTATTGGAACATAGCCACATCCATTCATTTATAGTGTCAATGGCTGCTTTCTGGCTACAATGGCAAAGTGAGTAGTTGTGACAGACTGGCCCTCAAAGCCTAATATTTACTATCTGGATCTCTACCAAAAAAAGTTTGCCAATCCCTGTTCTAGACCATCTGTGTTCTGGAATGGAATCTGGAACTCTAGAATGGAACCCACACACTTTGGGGTTCTAGCACCTTGGTATTCTAGATGCTCTATGTTCTATCTCCTCGAAAGATGAGAATGTCAGGACTTTATCATTACAGAACCTCAGAAGATTCTGGCTTCTATCGTACTGTAGAATATTCAAATGTTGGAATCTTAGAGCCTACGACTCTAGAAAACTTAGCATCTCTGATCTTGGAATGTCAGACTCTAGAACATTAGAATCTGGGAATTCTAGATGTGCAGAATTCCCAGAATTCACAGGTGCTCCATCAACTCTCTCAGATTATCTAGTTCAGGAATGGCAGTGTGGTGGCCCCTTGGCCATCCGGTCCATGGCCACCTTAAAAGCATGATGCTCCGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGCAAAAACCTATCTATACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGTGAGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGTAGAATCACTTGAACCAGGGAGGTAGAGGTTGCAGAGATCGAGCCACTGCACTCCAGCCTGGCAACAGAGCGAGCATCTATCTCAAAAAAAAAAAAAAAGAAAGAAAAAAAAAGTGCAATGCTTTAAAAAACAAATGTAGAATCTGATTGTCTATGGACAAGTTCGTGGTCTCCAGTTAGCTACAGCTTTCCAACCTCAGCTGCATATGTGTGTGTGCACATGTGCTCCCTGTTATATTACATTTGTGCTTTCCATTCTCACATGACCTCTCTGGTCCCCAAAGGCATTTTAGTTTAATTTCATTTTATTTTATTTATTTATTTTTGAGACAGAGTTTCGCTCTTGTCACCCAGGTTGGAGTGCTGTGGTGCAATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAG | TACTCAAGTCATAAAAATGTTGTCTTTTGCAGCAACTTAGATGGAACTGGAGACCATTATTCTAAGTGCAGTAACATAGGAGTGGAAAACCAAAAAATGTATGTTCTCACAGAAGAGGGGGCCAACCTATGAGTATGCAAAGGCATACAGAGTGTATAATGGTGTTTGGAGATTCAGAAGCAGGAAGGTGGGAGGCGGTGTGGGATAGAAGCTACACATTAGGTACAACGGACACTAGCTGGGTGATGGGTGTGCTAAGATCTCAGAATCCATCACTATAGAATTCATCCATGCAACCAAAACCACTTGTGTCCCCGAAGTGATTGAAATAATTTTTTTTTTCTTTTTTGAGATGGAGCCTGGCTCCGCCACCCAGGCTGGAGTGCAGTGGTGAGATCTCAGCTCACTGCCACTTCCACATCCTGGGTTCAATCGATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACGCTCCACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTGGTCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCGTCCGCTTCGGCCTCCCAAAGTGCTGGGATTACCGCGCCTAGTCAAAACTTTTTTAAAAAAGCAAAATGCCAGTCAGGGACAGACCCCAGTAAAGGAGCAGGAATGATCAACATATTGGGGGAAAAGGCTAGACTCTGAGTGGTGGGACAGCGGTGAGTCCAGGAGCATAGCCGGGAGCTAGAATGCAACAAGAGACACAGTGAAGGGGCCACAGAGCGGGGTGAGGAAATACCGATGTGAGACGTGCAGGTTAGAGTACAGAGGGAGAGGTGGATGCTCAGCCCCAGGGTACGGGGCTAAGGTTACACCAAAGTGAGGAGAACAACTATGGACCCTAACAGAAAAGATATGGGTTAGGCCCCATGTGCCAGTCCTGGAAGTTAAATTCACAAGAGGGGAGGGGAGGGAAGAGGTGCACTGTAGCTCAAGGCCTGGAGTGGGGGATCCAGGAGAGAGGGACTGGGGTCTGCACACTTTGGGAGAGGGGTGCAAATCTGGGTAGAAGGACCCAAGAATGCAGAGTTGCCTCTTCCCTCCCACCCGCTCTCTCCCCATCCCCTCAAACCCAGAGCTCACCCTTGGCGGCCGAGAGGCTGAACACAATCACTCGGGAGATGGGACCGTCCTGCAGGACCGACCACATCTGCAGAACCTCTGCGTGGAGAGCGAGGATTCAGAGCCCCAACCCCACCCCGGTCCCGCCCGCAGCCCTGAAACCATCGACTTTCCGCCCCCACCGTTCATCCCCACCCTAGCCCCGCCCCTCTGAAGCCCTCAACCCCACCCTAGCCCCGCCCCCAATCCCCACCCTCATCCCTTCCCCCACTTCCCCTACCTCACCCAGCAATAGCCCTCGGCCCCACCCTAGCCCCACCCGGCAAGCCCCACCCTCATCCCTCAACCCACTTATCCTCCTCCCCTACCCCACCCAGCTCCAGCCCTCAGCCCCACCCTGGCCCCGCCCTCTAGCCCTCAACCCCACCCCTTACCCCGCCTCACCGCGGCCCTCACCTCGACTCCGCTGGTCCACGTGGGCGACACGGACATAACCACTCTGACAGCCCAGAGCTGAGAGGCGCCGGGACGTGCCGGGGAAGTTGTGGACGTCCAGCCAGAGGACGCTGGCGGGCGGGTGGATGGACAGGACGGACGGCCATTGCTGGGCCCAGCCCCGCCCCTCTGCCTCCCCAGGGGCAGCCGCCCCTCCCTGTAGCCCTGGGACCCTGCTGCTTGATTCCTCCTGGATAATCCCCACCGCCCAATTCCTCTGAGGTCAATTCTCACCACCCGAGGGCTGAGTCCACCTCTTGTTTTTTCTGGGGTCACCCCTGCTGATCAATTTCTCTGAAGTCATGCCGTGGACTGATTTTTCTGAGCTCCTCCCCGGTGACCAATTTCTCTAAGGTCTCACCGCCCGATTTCTCTGATGTCAGTGCCCCGGTCCCCAGTGGCCTCTTTCGGGGCCTCTCCTACCTATACTGGTCAGGTTCGTCAGCTCTGGGAAGAGGTTTTCCACGGGCTGTTCCTCAAACTGATGCAGCCCCTCGTTCTGGGGAAACCAAGACCCACCCCACCCCCGCTTAAGTCAGCCGTCAGCTTCACACATATACCCACCCAGCGCCAGCCCACAGTGAATCCCACAGGGCTCTGCCCAGCACGCCGCCCCACCTCACCTCCTTGTAGAGATGAATGGCCGGGTCGTTCCCACTCAAGAGAAACACAGTCTCAAGTTGATCCCCGACCTGGACCCTGAAAGCAGAGAAATCTAGAACCCAAGGTAGTGGAATCCACATGGTCTGAGAACCAGAACTCTCCTCTTGCAAAAACCCCTGCCTGTTGAGAACCTTAACATTCTGGGATCCAGACACTAGACCCAGGGTTAGAATCTCAGGGCTCAAGCTCCTGAGTACTGTATCTCCTTGAAATACATAACTGTAGAAACGAGCCCTCATAGAATCTCAAAATCAAGGAATGTACCTCCCAATCTCAGAATTGCGGGAACATGGCTTGCTAGAACCTCCCGCTCTTAGAGCCCGCATCTACTCCTACCTTCACTCTGTGGATTCAGGAATCGAATGTGGAACTCTAGAATGAACTGCAGAACCTTAGAAAGCTAGGACCTCTTCATTCTGAAACCCTGGTATTCTAGAAGTGCTGTTTTCTGTCTCCTTAAAAATACAAGAACTTCTAGAATTTGCCATCATAGATTTCAGATTCACGGAATGATAGAATATCCAAATCCTAGCAAGGAGAACATTAGTGCAATTAGAATCTTCAGTTTTGGGGACTCTCACCTGTTAGACCAGAGGTTGGCCAAGTTATGACCTGCAGACCAAATCCAACCCACCATCTGTTTTTGTAAATAAAGTTTTATTGGAACATAGCCACATCCATTCATTTATAGTGTCAATGGCTGCTTTCTGGCTACAATGGCAAAGTGAGTAGTTGTGACAGACTGGCCCTCAAAGCCTAATATTTACTATCTGGATCTCTACCAAAAAAAGTTTGCCAATCCCTGTTCTAGACCATCTGTGTTCTGGAATGGAATCTGGAACTCTAGAATGGAACCCACACACTTTGGGGTTCTAGCACCTTGGTATTCTAGATGCTCTATGTTCTATCTCCTCGAAAGATGAGAATGTCAGGACTTTATCATTACAGAACCTCAGAAGATTCTGGCTTCTATCGTACTGTAGAATATTCAAATGTTGGAATCTTAGAGCCTACGACTCTAGAAAACTTAGCATCTCTGATCTTGGAATGTCAGACTCTAGAACATTAGAATCTGGGAATTCTAGATGTGCAGAATTCCCAGAATTCACAGGTGCTCCATCAACTCTCTCAGATTATCTAGTTCAGGAATGGCAGTGTGGTGGCCCCTTGGCCATCCGGTCCATGGCCACCTTAAAAGCATGATGCTCCGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGCAAAAACCTATCTATACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGTGAGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGTAGAATCACTTGAACCAGGGAGGTAGAGGTTGCAGAGATCGAGCCACTGCACTCCAGCCTGGCAACAGAGCGAGCATCTATCTCAAAAAAAAAAAAAAAGAAAGAAAAAAAAAGTGCAATGCTTTAAAAAACAAATGTAGAATCTGATTGTCTATGGACAAGTTCGTGGTCTCCAGTTAGCTACAGCTTTCCAACCTCAGCTGCATATGTGTGTGTGCACATGTGCTCCCTGTTATATTACATTTGTGCTTTCCATTCTCACATGACCTCTCTGGTCCCCAAAGGCATTTTAGTTTAATTTCATTTTATTTTATTTATTTATTTTTGAGACAGAGTTTCGCTCTTGTCACCCAGGTTGGAGTGCTGTGGTGCAATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCA | pathogenic | 307,085 |
Mutation found at chromosome 19 position 47483976, gene KPTN (kaptin, actin binding protein): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Macrocephaly-developmental_delay_syndrome'] | AGGACTTTATCATTACAGAACCTCAGAAGATTCTGGCTTCTATCGTACTGTAGAATATTCAAATGTTGGAATCTTAGAGCCTACGACTCTAGAAAACTTAGCATCTCTGATCTTGGAATGTCAGACTCTAGAACATTAGAATCTGGGAATTCTAGATGTGCAGAATTCCCAGAATTCACAGGTGCTCCATCAACTCTCTCAGATTATCTAGTTCAGGAATGGCAGTGTGGTGGCCCCTTGGCCATCCGGTCCATGGCCACCTTAAAAGCATGATGCTCCGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGCAAAAACCTATCTATACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGTGAGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGTAGAATCACTTGAACCAGGGAGGTAGAGGTTGCAGAGATCGAGCCACTGCACTCCAGCCTGGCAACAGAGCGAGCATCTATCTCAAAAAAAAAAAAAAAGAAAGAAAAAAAAAGTGCAATGCTTTAAAAAACAAATGTAGAATCTGATTGTCTATGGACAAGTTCGTGGTCTCCAGTTAGCTACAGCTTTCCAACCTCAGCTGCATATGTGTGTGTGCACATGTGCTCCCTGTTATATTACATTTGTGCTTTCCATTCTCACATGACCTCTCTGGTCCCCAAAGGCATTTTAGTTTAATTTCATTTTATTTTATTTATTTATTTTTGAGACAGAGTTTCGCTCTTGTCACCCAGGTTGGAGTGCTGTGGTGCAATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGCTGGGATTACAGGCACACACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGTCTGCCTCAGCCTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCGGCTGGCATTTTAGTTTTCAATCCCTAATCTAGTACAACCTCTTTATTTTCCAGAAGGGGAAACAGACTACAGGGGTCTGTAAGTAAAGAAGGGGTTCGAGAAGCCAGGGTTTCTACATTTACAGTGGAGTGGGCGTCGATGCGCAGGGGACACTCACTCCGCATGGCACAGCTGGAACGGAGTGAACTGGAGCTCCAGGTTCAGGCAGCTCTCTGTAGGCAGGGCACAGGCAGGTTAGCATGGGGGACCTGCTGGGGACTCTCTCCCTCCTCCCGTCCACGCCTCACTCACGGGCAATAGAGTCAAGGTTGTACTCAGAGCCGGGCTCGTAGTCGCAGTAAATGTTCAGGAAGGGGCTGCCCTTGTCCCCTGAATCCTGGCGGAGGACACGGGGTTCAGGGGAGGGCAGGGGTGGCAGGAGGGATCCGGGGCGGCTCAGTGGAACTCACCATGTGTGTAAGGAGGAGGGCGAAGGGAGGTGGAGGGGGCTCTAGGTACCTTGATGAACGTGATCCCCACAACCAGACCCCGCTTGGGGGGTGACTTGTTGAAAGTGTCGATGGAGACAATCTCCGCATCCACTGGGAGGGGAGAGTTCTAAGTTCAGTGTCAGGCAGACTCATGCTTCCAATCTCCCCAACATGGTGAGCTCTGGCTACCGCAATGATCATGCCCTCTGGTCTGAGTCCTGACCACCATCACCTGATCTCTGTTCCCTGGGTACTAGGGATCCTGACCTGTAAGTCTGAAGAATCCTGAAACCCTAGGCTCATCCGGGCCCCAACTATGCCTGCCCGCTGATCCCAGTGACCCCCTTAAAACCACCTGATCCCATTCTTCCAGCACGGTGACCCGGCTCAGACAGAGCCTCAGAAGCCTTCTCAACACCACGTTCCAGGCCCCCGCCCCCCAGCACCATAGCGCCACCCACCGGGAATGTAGTTGAACTGCAGCTCCTTGGCCACTGGCCGGATTTTCTGTCGGAGGTCTTGGTAGCGGAAGCCGAGCACCTTGCCTTTAAGGGTGGCGGCCAGCAGCTCCCCGCGCCCGCCGGCGCCGCCTGCCAGCCCGTACACATTGCTCTGCGACGAGAAGCGCGTGAAGCTGTCCTCGCGCAACGGACAAGGCCCCGCGGCCACGGCCGCCTCCCCCATCATGCCCCTCAGTTAAGCACCCTCTCCGCAGCCCCCGCCCCAACCCGCACTACCCAACCTACGACTCTCTAAGCGACCTGAACCGCCGGGTGCCCGGCCGTTGCGCGGGCTGATGACGTACGGAAGCTGCCGGCGTTGCCCTCTCCCAAGATGGCGGCCAGGTCGCCTGCTCGGGCCTCCCAGGCGACTTTGCCCCACTGCGCCCGCGCTCTCTTCTCCTTTCCATTTCTGGACCAAGGGGCTGCCATAAGGAGTCTGTGACTAGAGATGGGAGGTGGTGGCCACGGCCTCTCGCTGTATGCTGTGTGGAAGGTCGAATCATCATCATCATAAAACTTAATATTGCCCTTATGTGCCAGGAACTACTGTAAGTGCATTCCATCTAATACTTTATTAAAAATTCGCAAGGGGGTGGAGGTAGGTACTTAAATCCATTTTAGAGATGAAGGAATTGAGGCACAGAGGGGTAAAGTAACTTGCCTAAGATCACACAGCTAGTAACGAGCGGTCAGTACTGGAAACCAAACAAGGTAACTCCACAGTTCACTATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAGCAGCTGGGATTACAGGCGCCACCACACCTGGCTAGTTTTTCTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGCCCAGGCTGGTCTGGACCTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTAGGATTATAGGCGTGAGCCCCCTTGCCCGGCCTATAGTTCATAATCTTAACAGTATCACCTTTAAAATAATTAATACATTCTTCTTGCCCCCAAGGAAAAATGATCCAGCTATAATAACCACCTCCTTTATCGAACACCTACTTGGTGACAGTCATGCTGGCTCTGATAATCTGATTCCTTACAACTGTTCTGCAAGGGCCTACTGTTACCCTCCCTGCCGGTTCACTTATTCAGGATTCATTGAGCTTTTACTATGTGCCCGGACGTCCTTTGCAAATCTGTCTCACTAATCTTTGCAAGAAAGAAACCTCTACAAAGAGGTTTATTATCCCAGTTTAGAGAGAATCAAATGGAGGCTCAGAAAGAGTAAGTCCACTGACTGATATGCTAGCAAGTGGTGGGGACAGGATGTAAACCAGGTGTTTCCGACTCTGGGGCCTTCAGGGGTTCCTGTCTGTGCTGCTTTGTCCCTAGAAGGCCATGGAGGTTTGGGTACTATGTGCACATCTGTGTATCATTTCCAGAAGACATGGGTTGGCCAGCTGTCCTGGACACCTCGAGCACACACAGACTGCAAGCTCCATGAAGGCAGCAGGCTGATCTCCCTTGATCACGGCCTTATCGCCTGTACCTGGAACACAAGGCCTGACACAAAGCAGGCATTCAGAAAATATGTGTCAAAAATCACAAACTATGTGCTGAGCATGTAAGAGACAGCTCTTACATGATGGAAAGTTCTCAAAGGCAGACTGGATAACGGAGGTGGCAAGGAATTTGTGATGATTCCAGATTTCTGGATGTGGAGAGTAGAAGTTCCTGGAGGGCAGTCTGGGAATGCCGTCAGTGCTGCTGTATTCCCAGGGCCTGGCATGCAGCAGGTGCTTAGTGAATATTCGCTGAGGGAGTGGCACGTGGGTCTAGTGCCACTTCAGCAGTGCGTTTCCTTCAGGCGTCTTCCCGCCCTAGTAACCTATAAGCCACATGTTGAGCGGATGAATGAAAAAATGAAGTTACAGGTTAGGAAGGAATCATCCTGTTAAGAGGTTTCCAATCCT | AGGACTTTATCATTACAGAACCTCAGAAGATTCTGGCTTCTATCGTACTGTAGAATATTCAAATGTTGGAATCTTAGAGCCTACGACTCTAGAAAACTTAGCATCTCTGATCTTGGAATGTCAGACTCTAGAACATTAGAATCTGGGAATTCTAGATGTGCAGAATTCCCAGAATTCACAGGTGCTCCATCAACTCTCTCAGATTATCTAGTTCAGGAATGGCAGTGTGGTGGCCCCTTGGCCATCCGGTCCATGGCCACCTTAAAAGCATGATGCTCCGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGCAAAAACCTATCTATACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGTGAGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGTAGAATCACTTGAACCAGGGAGGTAGAGGTTGCAGAGATCGAGCCACTGCACTCCAGCCTGGCAACAGAGCGAGCATCTATCTCAAAAAAAAAAAAAAAGAAAGAAAAAAAAAGTGCAATGCTTTAAAAAACAAATGTAGAATCTGATTGTCTATGGACAAGTTCGTGGTCTCCAGTTAGCTACAGCTTTCCAACCTCAGCTGCATATGTGTGTGTGCACATGTGCTCCCTGTTATATTACATTTGTGCTTTCCATTCTCACATGACCTCTCTGGTCCCCAAAGGCATTTTAGTTTAATTTCATTTTATTTTATTTATTTATTTTTGAGACAGAGTTTCGCTCTTGTCACCCAGGTTGGAGTGCTGTGGTGCAATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGCTGGGATTACAGGCACACACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGTCTGCCTCAGCCTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCGGCTGGCATTTTAGTTTTCAATCCCTAATCTAGTACAACCTCTTTATTTTCCAGAAGGGGAAACAGACTACAGGGGTCTGTAAGTAAAGAAGGGGTTCGAGAAGCCAGGGTTTCTACATTTACAGTGGAGTGGGCGTCGATGCGCAGGGGACACTCACTCCGCATGGCACAGCTGGAACGGAGTGAACTGGAGCTCCAGGTTCAGGCAGCTCTCTGTAGGCAGGGCACAGGCAGGTTAGCATGGGGGACCTGCTGGGGACTCTCTCCCTCCTCCCGTCCACGCCTCACTCACGGGCAATAGAGTCAAGGTTGTACTCAGAGCCGGGCTCGTAGTCGCAGTAAATGTTCAGGAAGGGGCTGCCCTTGTCCCCTGAATCCTGGCGGAGGACACGGGGTTCAGGGGAGGGCAGGGGTGGCAGGAGGGATCCGGGGCGGCTCAGTGGAACTCACCATGTGTGTAAGGAGGAGGGCGAAGGGAGGTGGAGGGGGCTCTAGGTACCTTGATGAACGTGATCCCCACAACCAGACCCCGCTTGGGGGGTGACTTGTTGAAAGTGTCGATGGAGACAATCTCCGCATCCACTGGGAGGGGAGAGTTCTAAGTTCAGTGTCAGGCAGACTCATGCTTCCAATCTCCCCAACATGGTGAGCTCTGGCTACCGCAATGATCATGCCCTCTGGTCTGAGTCCTGACCACCATCACCTGATCTCTGTTCCCTGGGTACTAGGGATCCTGACCTGTAAGTCTGAAGAATCCTGAAACCCTAGGCTCATCCGGGCCCCAACTATGCCTGCCCGCTGATCCCAGTGACCCCCTTAAAACCACCTGATCCCATTCTTCCAGCACGGTGACCCGGCTCAGACAGAGCCTCAGAAGCCTTCTCAACACCACGTTCCAGGCCCCCGCCCCCCAGCACCATAGCGCCACCCACCGGGAATGTAGTTGAACTGCAGCTCCTTGGCCACTGGCCGGATTTTTCTGTCGGAGGTCTTGGTAGCGGAAGCCGAGCACCTTGCCTTTAAGGGTGGCGGCCAGCAGCTCCCCGCGCCCGCCGGCGCCGCCTGCCAGCCCGTACACATTGCTCTGCGACGAGAAGCGCGTGAAGCTGTCCTCGCGCAACGGACAAGGCCCCGCGGCCACGGCCGCCTCCCCCATCATGCCCCTCAGTTAAGCACCCTCTCCGCAGCCCCCGCCCCAACCCGCACTACCCAACCTACGACTCTCTAAGCGACCTGAACCGCCGGGTGCCCGGCCGTTGCGCGGGCTGATGACGTACGGAAGCTGCCGGCGTTGCCCTCTCCCAAGATGGCGGCCAGGTCGCCTGCTCGGGCCTCCCAGGCGACTTTGCCCCACTGCGCCCGCGCTCTCTTCTCCTTTCCATTTCTGGACCAAGGGGCTGCCATAAGGAGTCTGTGACTAGAGATGGGAGGTGGTGGCCACGGCCTCTCGCTGTATGCTGTGTGGAAGGTCGAATCATCATCATCATAAAACTTAATATTGCCCTTATGTGCCAGGAACTACTGTAAGTGCATTCCATCTAATACTTTATTAAAAATTCGCAAGGGGGTGGAGGTAGGTACTTAAATCCATTTTAGAGATGAAGGAATTGAGGCACAGAGGGGTAAAGTAACTTGCCTAAGATCACACAGCTAGTAACGAGCGGTCAGTACTGGAAACCAAACAAGGTAACTCCACAGTTCACTATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAGCAGCTGGGATTACAGGCGCCACCACACCTGGCTAGTTTTTCTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGCCCAGGCTGGTCTGGACCTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTAGGATTATAGGCGTGAGCCCCCTTGCCCGGCCTATAGTTCATAATCTTAACAGTATCACCTTTAAAATAATTAATACATTCTTCTTGCCCCCAAGGAAAAATGATCCAGCTATAATAACCACCTCCTTTATCGAACACCTACTTGGTGACAGTCATGCTGGCTCTGATAATCTGATTCCTTACAACTGTTCTGCAAGGGCCTACTGTTACCCTCCCTGCCGGTTCACTTATTCAGGATTCATTGAGCTTTTACTATGTGCCCGGACGTCCTTTGCAAATCTGTCTCACTAATCTTTGCAAGAAAGAAACCTCTACAAAGAGGTTTATTATCCCAGTTTAGAGAGAATCAAATGGAGGCTCAGAAAGAGTAAGTCCACTGACTGATATGCTAGCAAGTGGTGGGGACAGGATGTAAACCAGGTGTTTCCGACTCTGGGGCCTTCAGGGGTTCCTGTCTGTGCTGCTTTGTCCCTAGAAGGCCATGGAGGTTTGGGTACTATGTGCACATCTGTGTATCATTTCCAGAAGACATGGGTTGGCCAGCTGTCCTGGACACCTCGAGCACACACAGACTGCAAGCTCCATGAAGGCAGCAGGCTGATCTCCCTTGATCACGGCCTTATCGCCTGTACCTGGAACACAAGGCCTGACACAAAGCAGGCATTCAGAAAATATGTGTCAAAAATCACAAACTATGTGCTGAGCATGTAAGAGACAGCTCTTACATGATGGAAAGTTCTCAAAGGCAGACTGGATAACGGAGGTGGCAAGGAATTTGTGATGATTCCAGATTTCTGGATGTGGAGAGTAGAAGTTCCTGGAGGGCAGTCTGGGAATGCCGTCAGTGCTGCTGTATTCCCAGGGCCTGGCATGCAGCAGGTGCTTAGTGAATATTCGCTGAGGGAGTGGCACGTGGGTCTAGTGCCACTTCAGCAGTGCGTTTCCTTCAGGCGTCTTCCCGCCCTAGTAACCTATAAGCCACATGTTGAGCGGATGAATGAAAAAATGAAGTTACAGGTTAGGAAGGAATCATCCTGTTAAGAGGTTTCCAATCC | pathogenic | 307,090 |
Is the variant located on chromosome 19 at position 47834546, gene CRX (cone-rod homeobox), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Cone-rod_dystrophy_2', 'Leber_congenital_amaurosis_7'] | TTTCTTTTTTTTGAGACGGAGTCCGTAGCCCAGGCTGGGGTGTGGTGGCACCATTTTGGCTCACTACAGCCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGTGCACCCCTGTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAATCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCCATAAATGCGATTTTCATTCCCATTTTCCAACAAGGCGACTGAGGTATACATTGAAGGTGAATTACTAGGACAAAAGAAAGATGGCATTTTACTTCAATAACAGTTTGTTACAACCTGTACTGCTACCTATCTGCCATGGGAGTGTGCCTTTCCCCACACTGACACCAGTGCTGGAAGTTATCAACCTCCTTCATCTTTGCCAACCTGATAGGTCAAAAGTGATCATGGAAGATCCACACTCGCTTTTTTTTTTTTTTTTTTTTTGAGATAGGGGTCTATTTCTTTTTCTTTTTTCAGAGATGGGGGGTCTCACTATTTCTTTTTCTTTTTTTCAGAGATGGGGGTCTCACTATGTTGCCTAGGCTGGTTTTGAACTTCTGGGCTCAAGTGATTCTCCTGCCTTGACCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCGCCTTGCTTAGCCCTTACTGTCGTTTTTTTGTTTGTTTTTGTTTTTGTTTTTTTGTTTTGTTTTGTTTTGTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCCAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTTCTGACCTTAGGTGATCCATCCATCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCTTGCCTGGCCCTTACTGTTGGTTTAATGCCACTCTCCCTTAGGGTGACCAACCAATCCAGTTTGCCTGGGACCATTCTGGCTCTAGCACTGAAAGTCCTGTGTTCCAAGAAACACCCACCTCTCCTCCAACCTGGGCAAAGAGGGACGGTTGGTCAACCTGCAGTCCTGGGTTATAAGTGAGGCTGAGCGTGTTTGCCCATGGTCAAGAAAGAAGGGATCTTGGATGAGGGTGTGTAACAGGATCAGATTTGTTTTGTTTTTTTCTTAGAGTCTTGCTGTGTCACCCAGGCTGGAGTGCAATGGCCTGAACACAGCTCACTGCAGCCCCAAACTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTCCTGGGTAGCTGGGATTACAGGCATGCATCACCACACCCAGTTAACTTTTTAAAGAACACTTTTTTTTTTTTTTTAAGAGACAGGGTCTTGCTATGTTGCTCAGGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCCCGCCTTGGCCTCCCAAAGTGCTGGGATGACAGATGTGAGCCATTGTGCCTAGCCAGGACGAGATTTTTAGAGGGTAGAGTAGGAATAAGAGCTTGCACTTATGAGGCACATGATGGCTTCAGCTGTCTGCTTTGCAGAGTCTCAAGAAAGCTCTGAGAACCTTAAGCAGAGGCCATTTTACATGTGAGGACACAGAGGTACAGAGAGGTGAGATAAATGGCCAAGGTCACATACCTAAGAGGAGAAGGAGGCAGGATTTGAATCGCAGCCTGCACGTCACCCCATGGTGAGTAACTGGTAAGTGAGTGAGCATCCCTCCTCTTCTCTTGCAGGCCCCCTGACTTGGGCCTCAGTGTCCCCGAAGATCATGATGGCGTATATGAACCCGGGGCCCCACTATTCTGTCAACGCCTTGGCCCTAAGTGGCCCCAGTGTGGATCTGATGCACCAGGCTGTGCCCTACCCAAGTGAGTACAGTCGTTTCTCTTGGCACCCCAGGCTGGCCTCATCTCTTGGAGGACCTCTGGGGTCCCTTTGCCCCCAGGAAGAAGGCAATCACAGGGGCGACTTCAGGGCCATACACCAGCCCTCTGGGTTCATCTGAAATGTATGTCACTTAGAAAAACATTAGCAGTCCTAGAAATTCAGGACAGAGGTTCCTTTTGGGGTGAGGAAGAGGGGATGTAATCTGGAAGGGGAATCAAGAGGAATTTTCATCTGTTACCAAAACTTTATTATTTATTTATTTTTCAGAGACAAGGTCTCACACTCTGTCACCCAGGCTGGAGTGCAGTGGTGGTGGTCACGGCTCACTGCAGCCTCGAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTGCAGGTGTGAGCCATTGTGCCTAGGCCCGGGGGGCACTTTTTTTTTTTAATTTTATTTTTGAGACAGGGTCTCACTCTGTTGCCCACTCTGAAGTGCAATGGTGCAATCACAGCTCACTACAGCCTCGAACTCCTGGGCTCAAGCGATCCTTTTGCCTTGGCCTCCCAAATAGCTAGGATTACAGGTGCACGCCACCATGCCTGGCTAACTTTTTTAAGTTTTTGTAGATTTTGCAGGATCTGGATTATACAAAACATAGAAAAAATTATTATTATTTTTTTTTTTGTAGAGATTGGGTCTCCCTATGTTGCCCAGGCTGGTCTCAAACTCTTGGGTCCAAATAATCCGCCTGACTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGCCTGCAAAGCCTTATTTCTTTTTCTTTTTTTTTCTTTCGAGACACAGTTTAGACGGAGTTTCGCTCCTGCCCAGGCTGGAGTGCAATGGCGCGATCTTGGCTCTTTGCAACTTTTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCACACCACCATGCCCGGCCAATTTTTGTAAAGCCTTATTTTTAAGAGAAGTGAGTACTCAGTTATTTGTAGCATTATTCTTTAGCTCTTGTTTTTTTTTTTTTTTTTTTCAAGACCGAGCCTTGTTCTGTTACCAGGCTGGAGTGCAGTGGCATAATCTTGGCTCACTGCAACCTCTGCCTTCTGGGTTCAAGCGATTCTCCTCCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGGTTCCCCATGTTGGCCAGGATAGTCTCAATTTCTTGACCTTGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCACCCAGCCCAGACTTGCTACTTTTATAGGCTAGAAACGGTTGAATGTCAGCAATGTCATGCTTCAACTGATTATGTCTTAGTGCATAAGAAAGTTTAGAAGAGGGAAAAACGACTCGCACACCTCCTTGTTGAGCTAAAGCCTTGGGGTCAGGCATGAGCCACAGAGTGCCAGGCACACAGTGAGGTGTAGAAGGGCAGGGAATGTGTATTCCATCCTTAGTTTAGGCAGATGGCAACCAGGATGGAATTCTTGGCATCCCACCCAGCCTCAGGGCCTCACACCAGCCCATGTGGATGACCTGAGGGTCCTGTTTCCCATCCCACCCCAGGCGCCCCCAGGAAGCAGCGGCGGGAGCGCACCACCTTCACCCGGAGCCAACTGGAGGAGCTGGAGGCACTGTTTGCCAAGACCCAGTACCCAGACGTCTATGCCCGTGAGGAGGTGGCTCTGAAGATCAATCTGCCTGAGTCCAGGGTTCAGGTGGGGTGGTGGGTCCCTGGACCCCTCCCGACACTTCCTGTGATCTCAGGAGGCCTGCCCGGAACAAAGAGTGATGGGAGGAGGGAGAGATCACAGAGTGACAGCCAAAGTTATAAAGGGGACAATAATCCCTCTCCCCACCATCCCACTGACCGCCTCATGGCTCTCATTGCCCCTCGCTCCTCTCCAGCTGCGCTGG | TTTCTTTTTTTTGAGACGGAGTCCGTAGCCCAGGCTGGGGTGTGGTGGCACCATTTTGGCTCACTACAGCCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGTGCACCCCTGTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAATCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCCATAAATGCGATTTTCATTCCCATTTTCCAACAAGGCGACTGAGGTATACATTGAAGGTGAATTACTAGGACAAAAGAAAGATGGCATTTTACTTCAATAACAGTTTGTTACAACCTGTACTGCTACCTATCTGCCATGGGAGTGTGCCTTTCCCCACACTGACACCAGTGCTGGAAGTTATCAACCTCCTTCATCTTTGCCAACCTGATAGGTCAAAAGTGATCATGGAAGATCCACACTCGCTTTTTTTTTTTTTTTTTTTTTGAGATAGGGGTCTATTTCTTTTTCTTTTTTCAGAGATGGGGGGTCTCACTATTTCTTTTTCTTTTTTTCAGAGATGGGGGTCTCACTATGTTGCCTAGGCTGGTTTTGAACTTCTGGGCTCAAGTGATTCTCCTGCCTTGACCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCGCCTTGCTTAGCCCTTACTGTCGTTTTTTTGTTTGTTTTTGTTTTTGTTTTTTTGTTTTGTTTTGTTTTGTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCCAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTTCTGACCTTAGGTGATCCATCCATCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCTTGCCTGGCCCTTACTGTTGGTTTAATGCCACTCTCCCTTAGGGTGACCAACCAATCCAGTTTGCCTGGGACCATTCTGGCTCTAGCACTGAAAGTCCTGTGTTCCAAGAAACACCCACCTCTCCTCCAACCTGGGCAAAGAGGGACGGTTGGTCAACCTGCAGTCCTGGGTTATAAGTGAGGCTGAGCGTGTTTGCCCATGGTCAAGAAAGAAGGGATCTTGGATGAGGGTGTGTAACAGGATCAGATTTGTTTTGTTTTTTTCTTAGAGTCTTGCTGTGTCACCCAGGCTGGAGTGCAATGGCCTGAACACAGCTCACTGCAGCCCCAAACTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTCCTGGGTAGCTGGGATTACAGGCATGCATCACCACACCCAGTTAACTTTTTAAAGAACACTTTTTTTTTTTTTTTAAGAGACAGGGTCTTGCTATGTTGCTCAGGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCCCGCCTTGGCCTCCCAAAGTGCTGGGATGACAGATGTGAGCCATTGTGCCTAGCCAGGACGAGATTTTTAGAGGGTAGAGTAGGAATAAGAGCTTGCACTTATGAGGCACATGATGGCTTCAGCTGTCTGCTTTGCAGAGTCTCAAGAAAGCTCTGAGAACCTTAAGCAGAGGCCATTTTACATGTGAGGACACAGAGGTACAGAGAGGTGAGATAAATGGCCAAGGTCACATACCTAAGAGGAGAAGGAGGCAGGATTTGAATCGCAGCCTGCACGTCACCCCATGGTGAGTAACTGGTAAGTGAGTGAGCATCCCTCCTCTTCTCTTGCAGGCCCCCTGACTTGGGCCTCAGTGTCCCCGAAGATCATGATGGCGTATATGAACCCGGGGCCCCACTATTCTGTCAACGCCTTGGCCCTAAGTGGCCCCAGTGTGGATCTGATGCACCAGGCTGTGCCCTACCCAAGTTTATACAGTCGTTTCTCTTGGCACCCCAGGCTGGCCTCATCTCTTGGAGGACCTCTGGGGTCCCTTTGCCCCCAGGAAGAAGGCAATCACAGGGGCGACTTCAGGGCCATACACCAGCCCTCTGGGTTCATCTGAAATGTATGTCACTTAGAAAAACATTAGCAGTCCTAGAAATTCAGGACAGAGGTTCCTTTTGGGGTGAGGAAGAGGGGATGTAATCTGGAAGGGGAATCAAGAGGAATTTTCATCTGTTACCAAAACTTTATTATTTATTTATTTTTCAGAGACAAGGTCTCACACTCTGTCACCCAGGCTGGAGTGCAGTGGTGGTGGTCACGGCTCACTGCAGCCTCGAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTGCAGGTGTGAGCCATTGTGCCTAGGCCCGGGGGGCACTTTTTTTTTTTAATTTTATTTTTGAGACAGGGTCTCACTCTGTTGCCCACTCTGAAGTGCAATGGTGCAATCACAGCTCACTACAGCCTCGAACTCCTGGGCTCAAGCGATCCTTTTGCCTTGGCCTCCCAAATAGCTAGGATTACAGGTGCACGCCACCATGCCTGGCTAACTTTTTTAAGTTTTTGTAGATTTTGCAGGATCTGGATTATACAAAACATAGAAAAAATTATTATTATTTTTTTTTTTGTAGAGATTGGGTCTCCCTATGTTGCCCAGGCTGGTCTCAAACTCTTGGGTCCAAATAATCCGCCTGACTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGCCTGCAAAGCCTTATTTCTTTTTCTTTTTTTTTCTTTCGAGACACAGTTTAGACGGAGTTTCGCTCCTGCCCAGGCTGGAGTGCAATGGCGCGATCTTGGCTCTTTGCAACTTTTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCACACCACCATGCCCGGCCAATTTTTGTAAAGCCTTATTTTTAAGAGAAGTGAGTACTCAGTTATTTGTAGCATTATTCTTTAGCTCTTGTTTTTTTTTTTTTTTTTTTCAAGACCGAGCCTTGTTCTGTTACCAGGCTGGAGTGCAGTGGCATAATCTTGGCTCACTGCAACCTCTGCCTTCTGGGTTCAAGCGATTCTCCTCCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGGTTCCCCATGTTGGCCAGGATAGTCTCAATTTCTTGACCTTGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCACCCAGCCCAGACTTGCTACTTTTATAGGCTAGAAACGGTTGAATGTCAGCAATGTCATGCTTCAACTGATTATGTCTTAGTGCATAAGAAAGTTTAGAAGAGGGAAAAACGACTCGCACACCTCCTTGTTGAGCTAAAGCCTTGGGGTCAGGCATGAGCCACAGAGTGCCAGGCACACAGTGAGGTGTAGAAGGGCAGGGAATGTGTATTCCATCCTTAGTTTAGGCAGATGGCAACCAGGATGGAATTCTTGGCATCCCACCCAGCCTCAGGGCCTCACACCAGCCCATGTGGATGACCTGAGGGTCCTGTTTCCCATCCCACCCCAGGCGCCCCCAGGAAGCAGCGGCGGGAGCGCACCACCTTCACCCGGAGCCAACTGGAGGAGCTGGAGGCACTGTTTGCCAAGACCCAGTACCCAGACGTCTATGCCCGTGAGGAGGTGGCTCTGAAGATCAATCTGCCTGAGTCCAGGGTTCAGGTGGGGTGGTGGGTCCCTGGACCCCTCCCGACACTTCCTGTGATCTCAGGAGGCCTGCCCGGAACAAAGAGTGATGGGAGGAGGGAGAGATCACAGAGTGACAGCCAAAGTTATAAAGGGGACAATAATCCCTCTCCCCACCATCCCACTGACCGCCTCATGGCTCTCATTGCCCCTCGCTCCTCTCCAGCTGCGCTGG | pathogenic | 307,107 |
Gene mutation in CRX (cone-rod homeobox) at chromosome 19, position 47839468—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Cone-rod_dystrophy_2', 'Leber_congenital_amaurosis_7'] | GCCTTCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGATGGGTGTATTTATGTATATATGAGTGTATGCATGTATATATGATTGGACTGATAAATAAAATGTGTGTGTTAGTATGATTGTATATAGGTATGACTGGATGGATTAATGTATATGTATGCATGATGTATGTGTGTATGATGTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCATGATTGGATGACTGGATGGGTTTATTTGTGTATATATGAGTGTACGCATGTATATATAATTAGATGGATAAATGAAATGTGTGTCTGCATGATTGTATGTATGGATTAATGTGTATATATGTATGATGTATGTGTGTACAATGTATGTATGTATAATTGTATGTTTGTATGATCAGATGGATGGATGAATGTGTATGATGTATATATGTATGATCAGATGGCTCCATTAATGCATGTATGATGTATGCGTGTATGATGCATGTACACTTGCATGTATGATCAGATGAGCCAGTGAATGTATGTATGATGTATATGTGTATGATGTATGTATGTATGATCAGATAGATGGGTAAACGTATGCATGATGTATGTGCGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATAGATGGGTAAATGCAGGCATGATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGATGGATGAAAATGTGTATGATGTACGTATGATCATATAGATGGGTAAATGTATGCATGATATATGTGCGTATGGTGTATATATGTATAACTGTACGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATCGATGGGTAAATGCAGGCATGATGTATGTGCGTATGGTGTATGCATGTATAATTGTACGTGTGCATGTTTGCATTAGACGGATGGGATGAATGCACATGGGTATGATGTATGCATGTGTTCATGCACACATGCAGGTATGATTGGATGGATAGATGGATGGATGGGTGAATAGACGCCCCACAGCTGGATGCAAAGTAGACAGATGTGAACCCAGCACCTCTCACCAATAAGTGTCCTCATCCCCGGGCACCCTGCGGCTCTCCTGGGCCTCTTCCCCACTTACCCACCCCCATCTCCGCTCTTATCCCCCAGGTTTGGTTCAAGAACCGGAGGGCTAAATGCAGGCAGCAGCGACAGCAGCAGAAACAGCAGCAGCAGCCCCCAGGGGGCCAGGCCAAGGCCCGGCCTGCCAAGAGGAAGGCGGGCACGTCCCCAAGACCCTCCACAGATGTGTGTCCAGACCCTCTGGGCATCTCAGATTCCTACAGTCCCCCTCTGCCCGGCCCCTCAGGCTCCCCAACCACGGCAGTGGCCACTGTGTCCATCTGGAGCCCAGCCTCAGAGTCCCCTTTGCCTGAGGCGCAGCGGGCTGGGCTGGTGGCCTCAGGGCCGTCTCTGACCTCCGCCCCCTATGCCATGACCTACGCCCCGGCCTCCGCTTTCTGCTCTTCCCCCTCCGCCTATGGGTCTCCGAGCTCCTATTTCAGCGGCCTAGACCCCTACCTTTCTCCCATGGTGCCCCAGCTAGGGGGCCCGGCTCTTAGCCCCCTCTCTGGCCCCTCCGTGGGACCTTCCCTGGCCCAGTCCCCCACCTCCCTATCAGGCCAGAGCTATGGCGCCTACAGCCCCGTGGATAGCTTGGAATTCAAGGACCCCACGGGCACCTGGAAATTCACCTACAATCCCATGGACCCTCTGGACTACAAGGATCAGAGTGCCTGGAAGTTTCAGATCTTGTAGAGGACGCAGTCTCCATCTCTCTCCATCGGGCCTCGGGACCCTTTCTCTTCTGAATCTGCTTCCCTGCAGTTTAGATCCCGGGATGGCATTCCTGAGAAAGCAACCCGAACCAGCTGTCCTTCTGACAGCTCGGTGTTCAGCTTACAGAGACCACCCCTTTCCTCCACAGGGAGAGGCTCCTCCCTCTCCTGGGACAGCTCACAGGTCCTAGTGATTCTCTCAACCCTAACACCGTCTGGCACGATTGTGACCGCTGAAGTACACCACGAGCTCCAGGCTTCAGAAAGTGGTGCTGAGAACTTGCTCCAAGAAGAAGTCAAACCAAACTTGCAGTTGATTTGGGGTCATGTTTAGGTCAGAATCACCGTGCCCTTGAACAAGCAGGTAGGGGGGCTTGATAACTTAACTTTCCACGTGGACAGAATTTTTTTTTTTGTTTTGTTTTTGTTTTGCAGACACAGTCTAGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAAGCTCTACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGATGCCCACCACCAGGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTTTTTTTTTTTTTTTTTTTTAATTGAGACGGAGTCTCACTCTTTTGCTTAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGACTGCAACCTCCACCTCCCGGGTTGAAGCGTTGCTCCTGCCTCAATCTCCCAATTAGCTGGGATTACAGGTGTGCTCCATCATGCCCGGCTAATTTTTCTATTATTAGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTGGAACCCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATTGTGCCTGGCCCTACACGTGGACACTTCTTTAGCATATGGTTAGGGACCTTTCTAGAAATTCCAAAGACAGACTTTAAGAAGCCCCGTCGGGAAACCTTAGGCCAATGATGTGGTTACATTAAAAATAAATTATCTGGGAATTTCACAGACTTCACAAATGTCAGGCTTACATGGTAGGTTTAGGGGACCGTTTGAGAGACAAAGATCTACATTCATATATGTAGCTATACATATATGTACTTTTTCTTCTTAGTTTCTTTTTAAAGACATTTTATCACTCATTCGCTCATTAGCACATTGGGAATGTGTGTATTTGGTAGGGAAATGAAAGGCACCTTGCCTGTTCCATCTCTACTCCTTTTTTCTTTTGTTTTAGGATTTTCTAAAGGTGAGACACTGGTGGAACTGGGGTAGCTGCTTGGGACGTACCACCTATAGTTGTGGCTATTTCACAGAGAAGCAGCAGCTAGACAGACTCCCATCTGTAAATAAACAAGAGATAGGAAGAGGGG | GCCTTCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGATGGGTGTATTTATGTATATATGAGTGTATGCATGTATATATGATTGGACTGATAAATAAAATGTGTGTGTTAGTATGATTGTATATAGGTATGACTGGATGGATTAATGTATATGTATGCATGATGTATGTGTGTATGATGTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCATGATTGGATGACTGGATGGGTTTATTTGTGTATATATGAGTGTACGCATGTATATATAATTAGATGGATAAATGAAATGTGTGTCTGCATGATTGTATGTATGGATTAATGTGTATATATGTATGATGTATGTGTGTACAATGTATGTATGTATAATTGTATGTTTGTATGATCAGATGGATGGATGAATGTGTATGATGTATATATGTATGATCAGATGGCTCCATTAATGCATGTATGATGTATGCGTGTATGATGCATGTACACTTGCATGTATGATCAGATGAGCCAGTGAATGTATGTATGATGTATATGTGTATGATGTATGTATGTATGATCAGATAGATGGGTAAACGTATGCATGATGTATGTGCGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATAGATGGGTAAATGCAGGCATGATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGATGGATGAAAATGTGTATGATGTACGTATGATCATATAGATGGGTAAATGTATGCATGATATATGTGCGTATGGTGTATATATGTATAACTGTACGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATCGATGGGTAAATGCAGGCATGATGTATGTGCGTATGGTGTATGCATGTATAATTGTACGTGTGCATGTTTGCATTAGACGGATGGGATGAATGCACATGGGTATGATGTATGCATGTGTTCATGCACACATGCAGGTATGATTGGATGGATAGATGGATGGATGGGTGAATAGACGCCCCACAGCTGGATGCAAAGTAGACAGATGTGAACCCAGCACCTCTCACCAATAAGTGTCCTCATCCCCGGGCACCCTGCGGCTCTCCTGGGCCTCTTCCCCACTTACCCACCCCCATCTCCGCTCTTATCCCCCAGGTTTGGTTCAAGAACCGGAGGGCTAAATGCAGGCAGCAGCGACAGCAGCAGAAACAGCAGCAGCAGCCCCCAGGGGGCCAGGCCAAGGCCCGGCCTGCCAAGAGGAAGGCGGGCACGTCCCCAAGACCCTCCACAGATGTGTGTCCAGACCTCTGGGCATCTCAGATTCCTACAGTCCCCCTCTGCCCGGCCCCTCAGGCTCCCCAACCACGGCAGTGGCCACTGTGTCCATCTGGAGCCCAGCCTCAGAGTCCCCTTTGCCTGAGGCGCAGCGGGCTGGGCTGGTGGCCTCAGGGCCGTCTCTGACCTCCGCCCCCTATGCCATGACCTACGCCCCGGCCTCCGCTTTCTGCTCTTCCCCCTCCGCCTATGGGTCTCCGAGCTCCTATTTCAGCGGCCTAGACCCCTACCTTTCTCCCATGGTGCCCCAGCTAGGGGGCCCGGCTCTTAGCCCCCTCTCTGGCCCCTCCGTGGGACCTTCCCTGGCCCAGTCCCCCACCTCCCTATCAGGCCAGAGCTATGGCGCCTACAGCCCCGTGGATAGCTTGGAATTCAAGGACCCCACGGGCACCTGGAAATTCACCTACAATCCCATGGACCCTCTGGACTACAAGGATCAGAGTGCCTGGAAGTTTCAGATCTTGTAGAGGACGCAGTCTCCATCTCTCTCCATCGGGCCTCGGGACCCTTTCTCTTCTGAATCTGCTTCCCTGCAGTTTAGATCCCGGGATGGCATTCCTGAGAAAGCAACCCGAACCAGCTGTCCTTCTGACAGCTCGGTGTTCAGCTTACAGAGACCACCCCTTTCCTCCACAGGGAGAGGCTCCTCCCTCTCCTGGGACAGCTCACAGGTCCTAGTGATTCTCTCAACCCTAACACCGTCTGGCACGATTGTGACCGCTGAAGTACACCACGAGCTCCAGGCTTCAGAAAGTGGTGCTGAGAACTTGCTCCAAGAAGAAGTCAAACCAAACTTGCAGTTGATTTGGGGTCATGTTTAGGTCAGAATCACCGTGCCCTTGAACAAGCAGGTAGGGGGGCTTGATAACTTAACTTTCCACGTGGACAGAATTTTTTTTTTTGTTTTGTTTTTGTTTTGCAGACACAGTCTAGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAAGCTCTACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGATGCCCACCACCAGGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTTTTTTTTTTTTTTTTTTTTAATTGAGACGGAGTCTCACTCTTTTGCTTAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGACTGCAACCTCCACCTCCCGGGTTGAAGCGTTGCTCCTGCCTCAATCTCCCAATTAGCTGGGATTACAGGTGTGCTCCATCATGCCCGGCTAATTTTTCTATTATTAGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTGGAACCCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATTGTGCCTGGCCCTACACGTGGACACTTCTTTAGCATATGGTTAGGGACCTTTCTAGAAATTCCAAAGACAGACTTTAAGAAGCCCCGTCGGGAAACCTTAGGCCAATGATGTGGTTACATTAAAAATAAATTATCTGGGAATTTCACAGACTTCACAAATGTCAGGCTTACATGGTAGGTTTAGGGGACCGTTTGAGAGACAAAGATCTACATTCATATATGTAGCTATACATATATGTACTTTTTCTTCTTAGTTTCTTTTTAAAGACATTTTATCACTCATTCGCTCATTAGCACATTGGGAATGTGTGTATTTGGTAGGGAAATGAAAGGCACCTTGCCTGTTCCATCTCTACTCCTTTTTTCTTTTGTTTTAGGATTTTCTAAAGGTGAGACACTGGTGGAACTGGGGTAGCTGCTTGGGACGTACCACCTATAGTTGTGGCTATTTCACAGAGAAGCAGCAGCTAGACAGACTCCCATCTGTAAATAAACAAGAGATAGGAAGAGGGGN | pathogenic | 307,128 |
The mutation impacting CRX (cone-rod homeobox) on chromosome 19 at position 47839496: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Cone-rod_dystrophy_2', 'Leber_congenital_amaurosis_7', 'Retinal_dystrophy'] | TGAGCCACCGCGCCCGGCCGGATGGGTGTATTTATGTATATATGAGTGTATGCATGTATATATGATTGGACTGATAAATAAAATGTGTGTGTTAGTATGATTGTATATAGGTATGACTGGATGGATTAATGTATATGTATGCATGATGTATGTGTGTATGATGTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCATGATTGGATGACTGGATGGGTTTATTTGTGTATATATGAGTGTACGCATGTATATATAATTAGATGGATAAATGAAATGTGTGTCTGCATGATTGTATGTATGGATTAATGTGTATATATGTATGATGTATGTGTGTACAATGTATGTATGTATAATTGTATGTTTGTATGATCAGATGGATGGATGAATGTGTATGATGTATATATGTATGATCAGATGGCTCCATTAATGCATGTATGATGTATGCGTGTATGATGCATGTACACTTGCATGTATGATCAGATGAGCCAGTGAATGTATGTATGATGTATATGTGTATGATGTATGTATGTATGATCAGATAGATGGGTAAACGTATGCATGATGTATGTGCGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATAGATGGGTAAATGCAGGCATGATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGATGGATGAAAATGTGTATGATGTACGTATGATCATATAGATGGGTAAATGTATGCATGATATATGTGCGTATGGTGTATATATGTATAACTGTACGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATCGATGGGTAAATGCAGGCATGATGTATGTGCGTATGGTGTATGCATGTATAATTGTACGTGTGCATGTTTGCATTAGACGGATGGGATGAATGCACATGGGTATGATGTATGCATGTGTTCATGCACACATGCAGGTATGATTGGATGGATAGATGGATGGATGGGTGAATAGACGCCCCACAGCTGGATGCAAAGTAGACAGATGTGAACCCAGCACCTCTCACCAATAAGTGTCCTCATCCCCGGGCACCCTGCGGCTCTCCTGGGCCTCTTCCCCACTTACCCACCCCCATCTCCGCTCTTATCCCCCAGGTTTGGTTCAAGAACCGGAGGGCTAAATGCAGGCAGCAGCGACAGCAGCAGAAACAGCAGCAGCAGCCCCCAGGGGGCCAGGCCAAGGCCCGGCCTGCCAAGAGGAAGGCGGGCACGTCCCCAAGACCCTCCACAGATGTGTGTCCAGACCCTCTGGGCATCTCAGATTCCTACAGTCCCCCTCTGCCCGGCCCCTCAGGCTCCCCAACCACGGCAGTGGCCACTGTGTCCATCTGGAGCCCAGCCTCAGAGTCCCCTTTGCCTGAGGCGCAGCGGGCTGGGCTGGTGGCCTCAGGGCCGTCTCTGACCTCCGCCCCCTATGCCATGACCTACGCCCCGGCCTCCGCTTTCTGCTCTTCCCCCTCCGCCTATGGGTCTCCGAGCTCCTATTTCAGCGGCCTAGACCCCTACCTTTCTCCCATGGTGCCCCAGCTAGGGGGCCCGGCTCTTAGCCCCCTCTCTGGCCCCTCCGTGGGACCTTCCCTGGCCCAGTCCCCCACCTCCCTATCAGGCCAGAGCTATGGCGCCTACAGCCCCGTGGATAGCTTGGAATTCAAGGACCCCACGGGCACCTGGAAATTCACCTACAATCCCATGGACCCTCTGGACTACAAGGATCAGAGTGCCTGGAAGTTTCAGATCTTGTAGAGGACGCAGTCTCCATCTCTCTCCATCGGGCCTCGGGACCCTTTCTCTTCTGAATCTGCTTCCCTGCAGTTTAGATCCCGGGATGGCATTCCTGAGAAAGCAACCCGAACCAGCTGTCCTTCTGACAGCTCGGTGTTCAGCTTACAGAGACCACCCCTTTCCTCCACAGGGAGAGGCTCCTCCCTCTCCTGGGACAGCTCACAGGTCCTAGTGATTCTCTCAACCCTAACACCGTCTGGCACGATTGTGACCGCTGAAGTACACCACGAGCTCCAGGCTTCAGAAAGTGGTGCTGAGAACTTGCTCCAAGAAGAAGTCAAACCAAACTTGCAGTTGATTTGGGGTCATGTTTAGGTCAGAATCACCGTGCCCTTGAACAAGCAGGTAGGGGGGCTTGATAACTTAACTTTCCACGTGGACAGAATTTTTTTTTTTGTTTTGTTTTTGTTTTGCAGACACAGTCTAGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAAGCTCTACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGATGCCCACCACCAGGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTTTTTTTTTTTTTTTTTTTTAATTGAGACGGAGTCTCACTCTTTTGCTTAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGACTGCAACCTCCACCTCCCGGGTTGAAGCGTTGCTCCTGCCTCAATCTCCCAATTAGCTGGGATTACAGGTGTGCTCCATCATGCCCGGCTAATTTTTCTATTATTAGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTGGAACCCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATTGTGCCTGGCCCTACACGTGGACACTTCTTTAGCATATGGTTAGGGACCTTTCTAGAAATTCCAAAGACAGACTTTAAGAAGCCCCGTCGGGAAACCTTAGGCCAATGATGTGGTTACATTAAAAATAAATTATCTGGGAATTTCACAGACTTCACAAATGTCAGGCTTACATGGTAGGTTTAGGGGACCGTTTGAGAGACAAAGATCTACATTCATATATGTAGCTATACATATATGTACTTTTTCTTCTTAGTTTCTTTTTAAAGACATTTTATCACTCATTCGCTCATTAGCACATTGGGAATGTGTGTATTTGGTAGGGAAATGAAAGGCACCTTGCCTGTTCCATCTCTACTCCTTTTTTCTTTTGTTTTAGGATTTTCTAAAGGTGAGACACTGGTGGAACTGGGGTAGCTGCTTGGGACGTACCACCTATAGTTGTGGCTATTTCACAGAGAAGCAGCAGCTAGACAGACTCCCATCTGTAAATAAACAAGAGATAGGAAGAGGGGGAAATAGATTTGGAGGAGGCAGCCCTAC | TGAGCCACCGCGCCCGGCCGGATGGGTGTATTTATGTATATATGAGTGTATGCATGTATATATGATTGGACTGATAAATAAAATGTGTGTGTTAGTATGATTGTATATAGGTATGACTGGATGGATTAATGTATATGTATGCATGATGTATGTGTGTATGATGTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCATGATTGGATGACTGGATGGGTTTATTTGTGTATATATGAGTGTACGCATGTATATATAATTAGATGGATAAATGAAATGTGTGTCTGCATGATTGTATGTATGGATTAATGTGTATATATGTATGATGTATGTGTGTACAATGTATGTATGTATAATTGTATGTTTGTATGATCAGATGGATGGATGAATGTGTATGATGTATATATGTATGATCAGATGGCTCCATTAATGCATGTATGATGTATGCGTGTATGATGCATGTACACTTGCATGTATGATCAGATGAGCCAGTGAATGTATGTATGATGTATATGTGTATGATGTATGTATGTATGATCAGATAGATGGGTAAACGTATGCATGATGTATGTGCGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATAGATGGGTAAATGCAGGCATGATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGATGGATGAAAATGTGTATGATGTACGTATGATCATATAGATGGGTAAATGTATGCATGATATATGTGCGTATGGTGTATATATGTATAACTGTACGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATCGATGGGTAAATGCAGGCATGATGTATGTGCGTATGGTGTATGCATGTATAATTGTACGTGTGCATGTTTGCATTAGACGGATGGGATGAATGCACATGGGTATGATGTATGCATGTGTTCATGCACACATGCAGGTATGATTGGATGGATAGATGGATGGATGGGTGAATAGACGCCCCACAGCTGGATGCAAAGTAGACAGATGTGAACCCAGCACCTCTCACCAATAAGTGTCCTCATCCCCGGGCACCCTGCGGCTCTCCTGGGCCTCTTCCCCACTTACCCACCCCCATCTCCGCTCTTATCCCCCAGGTTTGGTTCAAGAACCGGAGGGCTAAATGCAGGCAGCAGCGACAGCAGCAGAAACAGCAGCAGCAGCCCCCAGGGGGCCAGGCCAAGGCCCGGCCTGCCAAGAGGAAGGCGGGCACGTCCCCAAGACCCTCCACAGATGTGTGTCCAGACCCTCTGGGCATCTCAGATTCCTACAGTCTCTGCCCGGCCCCTCAGGCTCCCCAACCACGGCAGTGGCCACTGTGTCCATCTGGAGCCCAGCCTCAGAGTCCCCTTTGCCTGAGGCGCAGCGGGCTGGGCTGGTGGCCTCAGGGCCGTCTCTGACCTCCGCCCCCTATGCCATGACCTACGCCCCGGCCTCCGCTTTCTGCTCTTCCCCCTCCGCCTATGGGTCTCCGAGCTCCTATTTCAGCGGCCTAGACCCCTACCTTTCTCCCATGGTGCCCCAGCTAGGGGGCCCGGCTCTTAGCCCCCTCTCTGGCCCCTCCGTGGGACCTTCCCTGGCCCAGTCCCCCACCTCCCTATCAGGCCAGAGCTATGGCGCCTACAGCCCCGTGGATAGCTTGGAATTCAAGGACCCCACGGGCACCTGGAAATTCACCTACAATCCCATGGACCCTCTGGACTACAAGGATCAGAGTGCCTGGAAGTTTCAGATCTTGTAGAGGACGCAGTCTCCATCTCTCTCCATCGGGCCTCGGGACCCTTTCTCTTCTGAATCTGCTTCCCTGCAGTTTAGATCCCGGGATGGCATTCCTGAGAAAGCAACCCGAACCAGCTGTCCTTCTGACAGCTCGGTGTTCAGCTTACAGAGACCACCCCTTTCCTCCACAGGGAGAGGCTCCTCCCTCTCCTGGGACAGCTCACAGGTCCTAGTGATTCTCTCAACCCTAACACCGTCTGGCACGATTGTGACCGCTGAAGTACACCACGAGCTCCAGGCTTCAGAAAGTGGTGCTGAGAACTTGCTCCAAGAAGAAGTCAAACCAAACTTGCAGTTGATTTGGGGTCATGTTTAGGTCAGAATCACCGTGCCCTTGAACAAGCAGGTAGGGGGGCTTGATAACTTAACTTTCCACGTGGACAGAATTTTTTTTTTTGTTTTGTTTTTGTTTTGCAGACACAGTCTAGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAAGCTCTACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGATGCCCACCACCAGGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTTTTTTTTTTTTTTTTTTTTAATTGAGACGGAGTCTCACTCTTTTGCTTAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGACTGCAACCTCCACCTCCCGGGTTGAAGCGTTGCTCCTGCCTCAATCTCCCAATTAGCTGGGATTACAGGTGTGCTCCATCATGCCCGGCTAATTTTTCTATTATTAGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTGGAACCCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATTGTGCCTGGCCCTACACGTGGACACTTCTTTAGCATATGGTTAGGGACCTTTCTAGAAATTCCAAAGACAGACTTTAAGAAGCCCCGTCGGGAAACCTTAGGCCAATGATGTGGTTACATTAAAAATAAATTATCTGGGAATTTCACAGACTTCACAAATGTCAGGCTTACATGGTAGGTTTAGGGGACCGTTTGAGAGACAAAGATCTACATTCATATATGTAGCTATACATATATGTACTTTTTCTTCTTAGTTTCTTTTTAAAGACATTTTATCACTCATTCGCTCATTAGCACATTGGGAATGTGTGTATTTGGTAGGGAAATGAAAGGCACCTTGCCTGTTCCATCTCTACTCCTTTTTTCTTTTGTTTTAGGATTTTCTAAAGGTGAGACACTGGTGGAACTGGGGTAGCTGCTTGGGACGTACCACCTATAGTTGTGGCTATTTCACAGAGAAGCAGCAGCTAGACAGACTCCCATCTGTAAATAAACAAGAGATAGGAAGAGGGGGAAATAGATTTGGAGGAGGCAGCCCTACNNNN | pathogenic | 307,129 |
The mutation in gene CRX (cone-rod homeobox) at chromosome 19, position 47839497—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Cone-rod_dystrophy_2', 'Leber_congenital_amaurosis_7', 'Retinal_dystrophy'] | GAGCCACCGCGCCCGGCCGGATGGGTGTATTTATGTATATATGAGTGTATGCATGTATATATGATTGGACTGATAAATAAAATGTGTGTGTTAGTATGATTGTATATAGGTATGACTGGATGGATTAATGTATATGTATGCATGATGTATGTGTGTATGATGTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCATGATTGGATGACTGGATGGGTTTATTTGTGTATATATGAGTGTACGCATGTATATATAATTAGATGGATAAATGAAATGTGTGTCTGCATGATTGTATGTATGGATTAATGTGTATATATGTATGATGTATGTGTGTACAATGTATGTATGTATAATTGTATGTTTGTATGATCAGATGGATGGATGAATGTGTATGATGTATATATGTATGATCAGATGGCTCCATTAATGCATGTATGATGTATGCGTGTATGATGCATGTACACTTGCATGTATGATCAGATGAGCCAGTGAATGTATGTATGATGTATATGTGTATGATGTATGTATGTATGATCAGATAGATGGGTAAACGTATGCATGATGTATGTGCGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATAGATGGGTAAATGCAGGCATGATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGATGGATGAAAATGTGTATGATGTACGTATGATCATATAGATGGGTAAATGTATGCATGATATATGTGCGTATGGTGTATATATGTATAACTGTACGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATCGATGGGTAAATGCAGGCATGATGTATGTGCGTATGGTGTATGCATGTATAATTGTACGTGTGCATGTTTGCATTAGACGGATGGGATGAATGCACATGGGTATGATGTATGCATGTGTTCATGCACACATGCAGGTATGATTGGATGGATAGATGGATGGATGGGTGAATAGACGCCCCACAGCTGGATGCAAAGTAGACAGATGTGAACCCAGCACCTCTCACCAATAAGTGTCCTCATCCCCGGGCACCCTGCGGCTCTCCTGGGCCTCTTCCCCACTTACCCACCCCCATCTCCGCTCTTATCCCCCAGGTTTGGTTCAAGAACCGGAGGGCTAAATGCAGGCAGCAGCGACAGCAGCAGAAACAGCAGCAGCAGCCCCCAGGGGGCCAGGCCAAGGCCCGGCCTGCCAAGAGGAAGGCGGGCACGTCCCCAAGACCCTCCACAGATGTGTGTCCAGACCCTCTGGGCATCTCAGATTCCTACAGTCCCCCTCTGCCCGGCCCCTCAGGCTCCCCAACCACGGCAGTGGCCACTGTGTCCATCTGGAGCCCAGCCTCAGAGTCCCCTTTGCCTGAGGCGCAGCGGGCTGGGCTGGTGGCCTCAGGGCCGTCTCTGACCTCCGCCCCCTATGCCATGACCTACGCCCCGGCCTCCGCTTTCTGCTCTTCCCCCTCCGCCTATGGGTCTCCGAGCTCCTATTTCAGCGGCCTAGACCCCTACCTTTCTCCCATGGTGCCCCAGCTAGGGGGCCCGGCTCTTAGCCCCCTCTCTGGCCCCTCCGTGGGACCTTCCCTGGCCCAGTCCCCCACCTCCCTATCAGGCCAGAGCTATGGCGCCTACAGCCCCGTGGATAGCTTGGAATTCAAGGACCCCACGGGCACCTGGAAATTCACCTACAATCCCATGGACCCTCTGGACTACAAGGATCAGAGTGCCTGGAAGTTTCAGATCTTGTAGAGGACGCAGTCTCCATCTCTCTCCATCGGGCCTCGGGACCCTTTCTCTTCTGAATCTGCTTCCCTGCAGTTTAGATCCCGGGATGGCATTCCTGAGAAAGCAACCCGAACCAGCTGTCCTTCTGACAGCTCGGTGTTCAGCTTACAGAGACCACCCCTTTCCTCCACAGGGAGAGGCTCCTCCCTCTCCTGGGACAGCTCACAGGTCCTAGTGATTCTCTCAACCCTAACACCGTCTGGCACGATTGTGACCGCTGAAGTACACCACGAGCTCCAGGCTTCAGAAAGTGGTGCTGAGAACTTGCTCCAAGAAGAAGTCAAACCAAACTTGCAGTTGATTTGGGGTCATGTTTAGGTCAGAATCACCGTGCCCTTGAACAAGCAGGTAGGGGGGCTTGATAACTTAACTTTCCACGTGGACAGAATTTTTTTTTTTGTTTTGTTTTTGTTTTGCAGACACAGTCTAGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAAGCTCTACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGATGCCCACCACCAGGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTTTTTTTTTTTTTTTTTTTTAATTGAGACGGAGTCTCACTCTTTTGCTTAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGACTGCAACCTCCACCTCCCGGGTTGAAGCGTTGCTCCTGCCTCAATCTCCCAATTAGCTGGGATTACAGGTGTGCTCCATCATGCCCGGCTAATTTTTCTATTATTAGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTGGAACCCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATTGTGCCTGGCCCTACACGTGGACACTTCTTTAGCATATGGTTAGGGACCTTTCTAGAAATTCCAAAGACAGACTTTAAGAAGCCCCGTCGGGAAACCTTAGGCCAATGATGTGGTTACATTAAAAATAAATTATCTGGGAATTTCACAGACTTCACAAATGTCAGGCTTACATGGTAGGTTTAGGGGACCGTTTGAGAGACAAAGATCTACATTCATATATGTAGCTATACATATATGTACTTTTTCTTCTTAGTTTCTTTTTAAAGACATTTTATCACTCATTCGCTCATTAGCACATTGGGAATGTGTGTATTTGGTAGGGAAATGAAAGGCACCTTGCCTGTTCCATCTCTACTCCTTTTTTCTTTTGTTTTAGGATTTTCTAAAGGTGAGACACTGGTGGAACTGGGGTAGCTGCTTGGGACGTACCACCTATAGTTGTGGCTATTTCACAGAGAAGCAGCAGCTAGACAGACTCCCATCTGTAAATAAACAAGAGATAGGAAGAGGGGGAAATAGATTTGGAGGAGGCAGCCCTACA | GAGCCACCGCGCCCGGCCGGATGGGTGTATTTATGTATATATGAGTGTATGCATGTATATATGATTGGACTGATAAATAAAATGTGTGTGTTAGTATGATTGTATATAGGTATGACTGGATGGATTAATGTATATGTATGCATGATGTATGTGTGTATGATGTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCATGATTGGATGACTGGATGGGTTTATTTGTGTATATATGAGTGTACGCATGTATATATAATTAGATGGATAAATGAAATGTGTGTCTGCATGATTGTATGTATGGATTAATGTGTATATATGTATGATGTATGTGTGTACAATGTATGTATGTATAATTGTATGTTTGTATGATCAGATGGATGGATGAATGTGTATGATGTATATATGTATGATCAGATGGCTCCATTAATGCATGTATGATGTATGCGTGTATGATGCATGTACACTTGCATGTATGATCAGATGAGCCAGTGAATGTATGTATGATGTATATGTGTATGATGTATGTATGTATGATCAGATAGATGGGTAAACGTATGCATGATGTATGTGCGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATAGATGGGTAAATGCAGGCATGATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGATGGATGAAAATGTGTATGATGTACGTATGATCATATAGATGGGTAAATGTATGCATGATATATGTGCGTATGGTGTATATATGTATAACTGTACGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATCGATGGGTAAATGCAGGCATGATGTATGTGCGTATGGTGTATGCATGTATAATTGTACGTGTGCATGTTTGCATTAGACGGATGGGATGAATGCACATGGGTATGATGTATGCATGTGTTCATGCACACATGCAGGTATGATTGGATGGATAGATGGATGGATGGGTGAATAGACGCCCCACAGCTGGATGCAAAGTAGACAGATGTGAACCCAGCACCTCTCACCAATAAGTGTCCTCATCCCCGGGCACCCTGCGGCTCTCCTGGGCCTCTTCCCCACTTACCCACCCCCATCTCCGCTCTTATCCCCCAGGTTTGGTTCAAGAACCGGAGGGCTAAATGCAGGCAGCAGCGACAGCAGCAGAAACAGCAGCAGCAGCCCCCAGGGGGCCAGGCCAAGGCCCGGCCTGCCAAGAGGAAGGCGGGCACGTCCCCAAGACCCTCCACAGATGTGTGTCCAGACCCTCTGGGCATCTCAGATTCCTACAGTCCCCCTCAGGCTCCCCAACCACGGCAGTGGCCACTGTGTCCATCTGGAGCCCAGCCTCAGAGTCCCCTTTGCCTGAGGCGCAGCGGGCTGGGCTGGTGGCCTCAGGGCCGTCTCTGACCTCCGCCCCCTATGCCATGACCTACGCCCCGGCCTCCGCTTTCTGCTCTTCCCCCTCCGCCTATGGGTCTCCGAGCTCCTATTTCAGCGGCCTAGACCCCTACCTTTCTCCCATGGTGCCCCAGCTAGGGGGCCCGGCTCTTAGCCCCCTCTCTGGCCCCTCCGTGGGACCTTCCCTGGCCCAGTCCCCCACCTCCCTATCAGGCCAGAGCTATGGCGCCTACAGCCCCGTGGATAGCTTGGAATTCAAGGACCCCACGGGCACCTGGAAATTCACCTACAATCCCATGGACCCTCTGGACTACAAGGATCAGAGTGCCTGGAAGTTTCAGATCTTGTAGAGGACGCAGTCTCCATCTCTCTCCATCGGGCCTCGGGACCCTTTCTCTTCTGAATCTGCTTCCCTGCAGTTTAGATCCCGGGATGGCATTCCTGAGAAAGCAACCCGAACCAGCTGTCCTTCTGACAGCTCGGTGTTCAGCTTACAGAGACCACCCCTTTCCTCCACAGGGAGAGGCTCCTCCCTCTCCTGGGACAGCTCACAGGTCCTAGTGATTCTCTCAACCCTAACACCGTCTGGCACGATTGTGACCGCTGAAGTACACCACGAGCTCCAGGCTTCAGAAAGTGGTGCTGAGAACTTGCTCCAAGAAGAAGTCAAACCAAACTTGCAGTTGATTTGGGGTCATGTTTAGGTCAGAATCACCGTGCCCTTGAACAAGCAGGTAGGGGGGCTTGATAACTTAACTTTCCACGTGGACAGAATTTTTTTTTTTGTTTTGTTTTTGTTTTGCAGACACAGTCTAGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAAGCTCTACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGATGCCCACCACCAGGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTTTTTTTTTTTTTTTTTTTTAATTGAGACGGAGTCTCACTCTTTTGCTTAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGACTGCAACCTCCACCTCCCGGGTTGAAGCGTTGCTCCTGCCTCAATCTCCCAATTAGCTGGGATTACAGGTGTGCTCCATCATGCCCGGCTAATTTTTCTATTATTAGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTGGAACCCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATTGTGCCTGGCCCTACACGTGGACACTTCTTTAGCATATGGTTAGGGACCTTTCTAGAAATTCCAAAGACAGACTTTAAGAAGCCCCGTCGGGAAACCTTAGGCCAATGATGTGGTTACATTAAAAATAAATTATCTGGGAATTTCACAGACTTCACAAATGTCAGGCTTACATGGTAGGTTTAGGGGACCGTTTGAGAGACAAAGATCTACATTCATATATGTAGCTATACATATATGTACTTTTTCTTCTTAGTTTCTTTTTAAAGACATTTTATCACTCATTCGCTCATTAGCACATTGGGAATGTGTGTATTTGGTAGGGAAATGAAAGGCACCTTGCCTGTTCCATCTCTACTCCTTTTTTCTTTTGTTTTAGGATTTTCTAAAGGTGAGACACTGGTGGAACTGGGGTAGCTGCTTGGGACGTACCACCTATAGTTGTGGCTATTTCACAGAGAAGCAGCAGCTAGACAGACTCCCATCTGTAAATAAACAAGAGATAGGAAGAGGGGGAAATAGATTTGGAGGAGGCAGCCCTACANNNNNNNNNNNNN | pathogenic | 307,130 |
Clinical significance of chromosome 19, position 47839566, gene CRX (cone-rod homeobox): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Cone-rod_dystrophy_2', 'Inborn_genetic_diseases', 'Leber_congenital_amaurosis_1', 'Leber_congenital_amaurosis_7'] | CTGATAAATAAAATGTGTGTGTTAGTATGATTGTATATAGGTATGACTGGATGGATTAATGTATATGTATGCATGATGTATGTGTGTATGATGTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCATGATTGGATGACTGGATGGGTTTATTTGTGTATATATGAGTGTACGCATGTATATATAATTAGATGGATAAATGAAATGTGTGTCTGCATGATTGTATGTATGGATTAATGTGTATATATGTATGATGTATGTGTGTACAATGTATGTATGTATAATTGTATGTTTGTATGATCAGATGGATGGATGAATGTGTATGATGTATATATGTATGATCAGATGGCTCCATTAATGCATGTATGATGTATGCGTGTATGATGCATGTACACTTGCATGTATGATCAGATGAGCCAGTGAATGTATGTATGATGTATATGTGTATGATGTATGTATGTATGATCAGATAGATGGGTAAACGTATGCATGATGTATGTGCGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATAGATGGGTAAATGCAGGCATGATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGATGGATGAAAATGTGTATGATGTACGTATGATCATATAGATGGGTAAATGTATGCATGATATATGTGCGTATGGTGTATATATGTATAACTGTACGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATCGATGGGTAAATGCAGGCATGATGTATGTGCGTATGGTGTATGCATGTATAATTGTACGTGTGCATGTTTGCATTAGACGGATGGGATGAATGCACATGGGTATGATGTATGCATGTGTTCATGCACACATGCAGGTATGATTGGATGGATAGATGGATGGATGGGTGAATAGACGCCCCACAGCTGGATGCAAAGTAGACAGATGTGAACCCAGCACCTCTCACCAATAAGTGTCCTCATCCCCGGGCACCCTGCGGCTCTCCTGGGCCTCTTCCCCACTTACCCACCCCCATCTCCGCTCTTATCCCCCAGGTTTGGTTCAAGAACCGGAGGGCTAAATGCAGGCAGCAGCGACAGCAGCAGAAACAGCAGCAGCAGCCCCCAGGGGGCCAGGCCAAGGCCCGGCCTGCCAAGAGGAAGGCGGGCACGTCCCCAAGACCCTCCACAGATGTGTGTCCAGACCCTCTGGGCATCTCAGATTCCTACAGTCCCCCTCTGCCCGGCCCCTCAGGCTCCCCAACCACGGCAGTGGCCACTGTGTCCATCTGGAGCCCAGCCTCAGAGTCCCCTTTGCCTGAGGCGCAGCGGGCTGGGCTGGTGGCCTCAGGGCCGTCTCTGACCTCCGCCCCCTATGCCATGACCTACGCCCCGGCCTCCGCTTTCTGCTCTTCCCCCTCCGCCTATGGGTCTCCGAGCTCCTATTTCAGCGGCCTAGACCCCTACCTTTCTCCCATGGTGCCCCAGCTAGGGGGCCCGGCTCTTAGCCCCCTCTCTGGCCCCTCCGTGGGACCTTCCCTGGCCCAGTCCCCCACCTCCCTATCAGGCCAGAGCTATGGCGCCTACAGCCCCGTGGATAGCTTGGAATTCAAGGACCCCACGGGCACCTGGAAATTCACCTACAATCCCATGGACCCTCTGGACTACAAGGATCAGAGTGCCTGGAAGTTTCAGATCTTGTAGAGGACGCAGTCTCCATCTCTCTCCATCGGGCCTCGGGACCCTTTCTCTTCTGAATCTGCTTCCCTGCAGTTTAGATCCCGGGATGGCATTCCTGAGAAAGCAACCCGAACCAGCTGTCCTTCTGACAGCTCGGTGTTCAGCTTACAGAGACCACCCCTTTCCTCCACAGGGAGAGGCTCCTCCCTCTCCTGGGACAGCTCACAGGTCCTAGTGATTCTCTCAACCCTAACACCGTCTGGCACGATTGTGACCGCTGAAGTACACCACGAGCTCCAGGCTTCAGAAAGTGGTGCTGAGAACTTGCTCCAAGAAGAAGTCAAACCAAACTTGCAGTTGATTTGGGGTCATGTTTAGGTCAGAATCACCGTGCCCTTGAACAAGCAGGTAGGGGGGCTTGATAACTTAACTTTCCACGTGGACAGAATTTTTTTTTTTGTTTTGTTTTTGTTTTGCAGACACAGTCTAGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAAGCTCTACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGATGCCCACCACCAGGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTTTTTTTTTTTTTTTTTTTTAATTGAGACGGAGTCTCACTCTTTTGCTTAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGACTGCAACCTCCACCTCCCGGGTTGAAGCGTTGCTCCTGCCTCAATCTCCCAATTAGCTGGGATTACAGGTGTGCTCCATCATGCCCGGCTAATTTTTCTATTATTAGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTGGAACCCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATTGTGCCTGGCCCTACACGTGGACACTTCTTTAGCATATGGTTAGGGACCTTTCTAGAAATTCCAAAGACAGACTTTAAGAAGCCCCGTCGGGAAACCTTAGGCCAATGATGTGGTTACATTAAAAATAAATTATCTGGGAATTTCACAGACTTCACAAATGTCAGGCTTACATGGTAGGTTTAGGGGACCGTTTGAGAGACAAAGATCTACATTCATATATGTAGCTATACATATATGTACTTTTTCTTCTTAGTTTCTTTTTAAAGACATTTTATCACTCATTCGCTCATTAGCACATTGGGAATGTGTGTATTTGGTAGGGAAATGAAAGGCACCTTGCCTGTTCCATCTCTACTCCTTTTTTCTTTTGTTTTAGGATTTTCTAAAGGTGAGACACTGGTGGAACTGGGGTAGCTGCTTGGGACGTACCACCTATAGTTGTGGCTATTTCACAGAGAAGCAGCAGCTAGACAGACTCCCATCTGTAAATAAACAAGAGATAGGAAGAGGGGGAAATAGATTTGGAGGAGGCAGCCCTACATTTCAAACATACATTCCCTTTTTTAGATTTTTTTTTTTTTTTTTTTGGTTTTCAGTTTTGATGGTGGGA | CTGATAAATAAAATGTGTGTGTTAGTATGATTGTATATAGGTATGACTGGATGGATTAATGTATATGTATGCATGATGTATGTGTGTATGATGTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCATGATTGGATGACTGGATGGGTTTATTTGTGTATATATGAGTGTACGCATGTATATATAATTAGATGGATAAATGAAATGTGTGTCTGCATGATTGTATGTATGGATTAATGTGTATATATGTATGATGTATGTGTGTACAATGTATGTATGTATAATTGTATGTTTGTATGATCAGATGGATGGATGAATGTGTATGATGTATATATGTATGATCAGATGGCTCCATTAATGCATGTATGATGTATGCGTGTATGATGCATGTACACTTGCATGTATGATCAGATGAGCCAGTGAATGTATGTATGATGTATATGTGTATGATGTATGTATGTATGATCAGATAGATGGGTAAACGTATGCATGATGTATGTGCGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATAGATGGGTAAATGCAGGCATGATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGATGGATGAAAATGTGTATGATGTACGTATGATCATATAGATGGGTAAATGTATGCATGATATATGTGCGTATGGTGTATATATGTATAACTGTACGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATCGATGGGTAAATGCAGGCATGATGTATGTGCGTATGGTGTATGCATGTATAATTGTACGTGTGCATGTTTGCATTAGACGGATGGGATGAATGCACATGGGTATGATGTATGCATGTGTTCATGCACACATGCAGGTATGATTGGATGGATAGATGGATGGATGGGTGAATAGACGCCCCACAGCTGGATGCAAAGTAGACAGATGTGAACCCAGCACCTCTCACCAATAAGTGTCCTCATCCCCGGGCACCCTGCGGCTCTCCTGGGCCTCTTCCCCACTTACCCACCCCCATCTCCGCTCTTATCCCCCAGGTTTGGTTCAAGAACCGGAGGGCTAAATGCAGGCAGCAGCGACAGCAGCAGAAACAGCAGCAGCAGCCCCCAGGGGGCCAGGCCAAGGCCCGGCCTGCCAAGAGGAAGGCGGGCACGTCCCCAAGACCCTCCACAGATGTGTGTCCAGACCCTCTGGGCATCTCAGATTCCTACAGTCCCCCTCTGCCCGGCCCCTCAGGCTCCCCAACCACGGCAGTGGCCACTGTGTCCATCTGGAGCCCAGCCTGAGTCCCCTTTGCCTGAGGCGCAGCGGGCTGGGCTGGTGGCCTCAGGGCCGTCTCTGACCTCCGCCCCCTATGCCATGACCTACGCCCCGGCCTCCGCTTTCTGCTCTTCCCCCTCCGCCTATGGGTCTCCGAGCTCCTATTTCAGCGGCCTAGACCCCTACCTTTCTCCCATGGTGCCCCAGCTAGGGGGCCCGGCTCTTAGCCCCCTCTCTGGCCCCTCCGTGGGACCTTCCCTGGCCCAGTCCCCCACCTCCCTATCAGGCCAGAGCTATGGCGCCTACAGCCCCGTGGATAGCTTGGAATTCAAGGACCCCACGGGCACCTGGAAATTCACCTACAATCCCATGGACCCTCTGGACTACAAGGATCAGAGTGCCTGGAAGTTTCAGATCTTGTAGAGGACGCAGTCTCCATCTCTCTCCATCGGGCCTCGGGACCCTTTCTCTTCTGAATCTGCTTCCCTGCAGTTTAGATCCCGGGATGGCATTCCTGAGAAAGCAACCCGAACCAGCTGTCCTTCTGACAGCTCGGTGTTCAGCTTACAGAGACCACCCCTTTCCTCCACAGGGAGAGGCTCCTCCCTCTCCTGGGACAGCTCACAGGTCCTAGTGATTCTCTCAACCCTAACACCGTCTGGCACGATTGTGACCGCTGAAGTACACCACGAGCTCCAGGCTTCAGAAAGTGGTGCTGAGAACTTGCTCCAAGAAGAAGTCAAACCAAACTTGCAGTTGATTTGGGGTCATGTTTAGGTCAGAATCACCGTGCCCTTGAACAAGCAGGTAGGGGGGCTTGATAACTTAACTTTCCACGTGGACAGAATTTTTTTTTTTGTTTTGTTTTTGTTTTGCAGACACAGTCTAGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAAGCTCTACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGATGCCCACCACCAGGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTTTTTTTTTTTTTTTTTTTTAATTGAGACGGAGTCTCACTCTTTTGCTTAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGACTGCAACCTCCACCTCCCGGGTTGAAGCGTTGCTCCTGCCTCAATCTCCCAATTAGCTGGGATTACAGGTGTGCTCCATCATGCCCGGCTAATTTTTCTATTATTAGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTGGAACCCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATTGTGCCTGGCCCTACACGTGGACACTTCTTTAGCATATGGTTAGGGACCTTTCTAGAAATTCCAAAGACAGACTTTAAGAAGCCCCGTCGGGAAACCTTAGGCCAATGATGTGGTTACATTAAAAATAAATTATCTGGGAATTTCACAGACTTCACAAATGTCAGGCTTACATGGTAGGTTTAGGGGACCGTTTGAGAGACAAAGATCTACATTCATATATGTAGCTATACATATATGTACTTTTTCTTCTTAGTTTCTTTTTAAAGACATTTTATCACTCATTCGCTCATTAGCACATTGGGAATGTGTGTATTTGGTAGGGAAATGAAAGGCACCTTGCCTGTTCCATCTCTACTCCTTTTTTCTTTTGTTTTAGGATTTTCTAAAGGTGAGACACTGGTGGAACTGGGGTAGCTGCTTGGGACGTACCACCTATAGTTGTGGCTATTTCACAGAGAAGCAGCAGCTAGACAGACTCCCATCTGTAAATAAACAAGAGATAGGAAGAGGGGGAAATAGATTTGGAGGAGGCAGCCCTACATTTCAAACATACATTCCCTTTTTTAGATTTTTTTTTTTTTTTTTTTGGTTTTCAGTTTTGATGGTGGGANN | pathogenic | 307,133 |
Mutation found at chromosome 19 position 47839652, gene CRX (cone-rod homeobox): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Cone-rod_dystrophy_2', 'Leber_congenital_amaurosis_7', 'Retinal_dystrophy'] | TATGATGTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCATGATTGGATGACTGGATGGGTTTATTTGTGTATATATGAGTGTACGCATGTATATATAATTAGATGGATAAATGAAATGTGTGTCTGCATGATTGTATGTATGGATTAATGTGTATATATGTATGATGTATGTGTGTACAATGTATGTATGTATAATTGTATGTTTGTATGATCAGATGGATGGATGAATGTGTATGATGTATATATGTATGATCAGATGGCTCCATTAATGCATGTATGATGTATGCGTGTATGATGCATGTACACTTGCATGTATGATCAGATGAGCCAGTGAATGTATGTATGATGTATATGTGTATGATGTATGTATGTATGATCAGATAGATGGGTAAACGTATGCATGATGTATGTGCGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATAGATGGGTAAATGCAGGCATGATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGATGGATGAAAATGTGTATGATGTACGTATGATCATATAGATGGGTAAATGTATGCATGATATATGTGCGTATGGTGTATATATGTATAACTGTACGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATCGATGGGTAAATGCAGGCATGATGTATGTGCGTATGGTGTATGCATGTATAATTGTACGTGTGCATGTTTGCATTAGACGGATGGGATGAATGCACATGGGTATGATGTATGCATGTGTTCATGCACACATGCAGGTATGATTGGATGGATAGATGGATGGATGGGTGAATAGACGCCCCACAGCTGGATGCAAAGTAGACAGATGTGAACCCAGCACCTCTCACCAATAAGTGTCCTCATCCCCGGGCACCCTGCGGCTCTCCTGGGCCTCTTCCCCACTTACCCACCCCCATCTCCGCTCTTATCCCCCAGGTTTGGTTCAAGAACCGGAGGGCTAAATGCAGGCAGCAGCGACAGCAGCAGAAACAGCAGCAGCAGCCCCCAGGGGGCCAGGCCAAGGCCCGGCCTGCCAAGAGGAAGGCGGGCACGTCCCCAAGACCCTCCACAGATGTGTGTCCAGACCCTCTGGGCATCTCAGATTCCTACAGTCCCCCTCTGCCCGGCCCCTCAGGCTCCCCAACCACGGCAGTGGCCACTGTGTCCATCTGGAGCCCAGCCTCAGAGTCCCCTTTGCCTGAGGCGCAGCGGGCTGGGCTGGTGGCCTCAGGGCCGTCTCTGACCTCCGCCCCCTATGCCATGACCTACGCCCCGGCCTCCGCTTTCTGCTCTTCCCCCTCCGCCTATGGGTCTCCGAGCTCCTATTTCAGCGGCCTAGACCCCTACCTTTCTCCCATGGTGCCCCAGCTAGGGGGCCCGGCTCTTAGCCCCCTCTCTGGCCCCTCCGTGGGACCTTCCCTGGCCCAGTCCCCCACCTCCCTATCAGGCCAGAGCTATGGCGCCTACAGCCCCGTGGATAGCTTGGAATTCAAGGACCCCACGGGCACCTGGAAATTCACCTACAATCCCATGGACCCTCTGGACTACAAGGATCAGAGTGCCTGGAAGTTTCAGATCTTGTAGAGGACGCAGTCTCCATCTCTCTCCATCGGGCCTCGGGACCCTTTCTCTTCTGAATCTGCTTCCCTGCAGTTTAGATCCCGGGATGGCATTCCTGAGAAAGCAACCCGAACCAGCTGTCCTTCTGACAGCTCGGTGTTCAGCTTACAGAGACCACCCCTTTCCTCCACAGGGAGAGGCTCCTCCCTCTCCTGGGACAGCTCACAGGTCCTAGTGATTCTCTCAACCCTAACACCGTCTGGCACGATTGTGACCGCTGAAGTACACCACGAGCTCCAGGCTTCAGAAAGTGGTGCTGAGAACTTGCTCCAAGAAGAAGTCAAACCAAACTTGCAGTTGATTTGGGGTCATGTTTAGGTCAGAATCACCGTGCCCTTGAACAAGCAGGTAGGGGGGCTTGATAACTTAACTTTCCACGTGGACAGAATTTTTTTTTTTGTTTTGTTTTTGTTTTGCAGACACAGTCTAGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAAGCTCTACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGATGCCCACCACCAGGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTTTTTTTTTTTTTTTTTTTTAATTGAGACGGAGTCTCACTCTTTTGCTTAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGACTGCAACCTCCACCTCCCGGGTTGAAGCGTTGCTCCTGCCTCAATCTCCCAATTAGCTGGGATTACAGGTGTGCTCCATCATGCCCGGCTAATTTTTCTATTATTAGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTGGAACCCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATTGTGCCTGGCCCTACACGTGGACACTTCTTTAGCATATGGTTAGGGACCTTTCTAGAAATTCCAAAGACAGACTTTAAGAAGCCCCGTCGGGAAACCTTAGGCCAATGATGTGGTTACATTAAAAATAAATTATCTGGGAATTTCACAGACTTCACAAATGTCAGGCTTACATGGTAGGTTTAGGGGACCGTTTGAGAGACAAAGATCTACATTCATATATGTAGCTATACATATATGTACTTTTTCTTCTTAGTTTCTTTTTAAAGACATTTTATCACTCATTCGCTCATTAGCACATTGGGAATGTGTGTATTTGGTAGGGAAATGAAAGGCACCTTGCCTGTTCCATCTCTACTCCTTTTTTCTTTTGTTTTAGGATTTTCTAAAGGTGAGACACTGGTGGAACTGGGGTAGCTGCTTGGGACGTACCACCTATAGTTGTGGCTATTTCACAGAGAAGCAGCAGCTAGACAGACTCCCATCTGTAAATAAACAAGAGATAGGAAGAGGGGGAAATAGATTTGGAGGAGGCAGCCCTACATTTCAAACATACATTCCCTTTTTTAGATTTTTTTTTTTTTTTTTTTGGTTTTCAGTTTTGATGGTGGGATTGGAAAATAGAGCTTGGCTTGAGGACATTTTCCTGGGGTGGCACCATTATTTCTTGAAATAGAATCTTACTTATGGTGACACTGG | TATGATGTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCATGATTGGATGACTGGATGGGTTTATTTGTGTATATATGAGTGTACGCATGTATATATAATTAGATGGATAAATGAAATGTGTGTCTGCATGATTGTATGTATGGATTAATGTGTATATATGTATGATGTATGTGTGTACAATGTATGTATGTATAATTGTATGTTTGTATGATCAGATGGATGGATGAATGTGTATGATGTATATATGTATGATCAGATGGCTCCATTAATGCATGTATGATGTATGCGTGTATGATGCATGTACACTTGCATGTATGATCAGATGAGCCAGTGAATGTATGTATGATGTATATGTGTATGATGTATGTATGTATGATCAGATAGATGGGTAAACGTATGCATGATGTATGTGCGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATAGATGGGTAAATGCAGGCATGATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGATGGATGAAAATGTGTATGATGTACGTATGATCATATAGATGGGTAAATGTATGCATGATATATGTGCGTATGGTGTATATATGTATAACTGTACGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATCGATGGGTAAATGCAGGCATGATGTATGTGCGTATGGTGTATGCATGTATAATTGTACGTGTGCATGTTTGCATTAGACGGATGGGATGAATGCACATGGGTATGATGTATGCATGTGTTCATGCACACATGCAGGTATGATTGGATGGATAGATGGATGGATGGGTGAATAGACGCCCCACAGCTGGATGCAAAGTAGACAGATGTGAACCCAGCACCTCTCACCAATAAGTGTCCTCATCCCCGGGCACCCTGCGGCTCTCCTGGGCCTCTTCCCCACTTACCCACCCCCATCTCCGCTCTTATCCCCCAGGTTTGGTTCAAGAACCGGAGGGCTAAATGCAGGCAGCAGCGACAGCAGCAGAAACAGCAGCAGCAGCCCCCAGGGGGCCAGGCCAAGGCCCGGCCTGCCAAGAGGAAGGCGGGCACGTCCCCAAGACCCTCCACAGATGTGTGTCCAGACCCTCTGGGCATCTCAGATTCCTACAGTCCCCCTCTGCCCGGCCCCTCAGGCTCCCCAACCACGGCAGTGGCCACTGTGTCCATCTGGAGCCCAGCCTCAGAGTCCCCTTTGCCTGAGGCGCAGCGGGCTGGGCTGGTGGCCTCAGGGCCGTCTCTGACCTCCGCCCCCTATGCCATGACCTACCCCCGGCCTCCGCTTTCTGCTCTTCCCCCTCCGCCTATGGGTCTCCGAGCTCCTATTTCAGCGGCCTAGACCCCTACCTTTCTCCCATGGTGCCCCAGCTAGGGGGCCCGGCTCTTAGCCCCCTCTCTGGCCCCTCCGTGGGACCTTCCCTGGCCCAGTCCCCCACCTCCCTATCAGGCCAGAGCTATGGCGCCTACAGCCCCGTGGATAGCTTGGAATTCAAGGACCCCACGGGCACCTGGAAATTCACCTACAATCCCATGGACCCTCTGGACTACAAGGATCAGAGTGCCTGGAAGTTTCAGATCTTGTAGAGGACGCAGTCTCCATCTCTCTCCATCGGGCCTCGGGACCCTTTCTCTTCTGAATCTGCTTCCCTGCAGTTTAGATCCCGGGATGGCATTCCTGAGAAAGCAACCCGAACCAGCTGTCCTTCTGACAGCTCGGTGTTCAGCTTACAGAGACCACCCCTTTCCTCCACAGGGAGAGGCTCCTCCCTCTCCTGGGACAGCTCACAGGTCCTAGTGATTCTCTCAACCCTAACACCGTCTGGCACGATTGTGACCGCTGAAGTACACCACGAGCTCCAGGCTTCAGAAAGTGGTGCTGAGAACTTGCTCCAAGAAGAAGTCAAACCAAACTTGCAGTTGATTTGGGGTCATGTTTAGGTCAGAATCACCGTGCCCTTGAACAAGCAGGTAGGGGGGCTTGATAACTTAACTTTCCACGTGGACAGAATTTTTTTTTTTGTTTTGTTTTTGTTTTGCAGACACAGTCTAGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAAGCTCTACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGATGCCCACCACCAGGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTTTTTTTTTTTTTTTTTTTTAATTGAGACGGAGTCTCACTCTTTTGCTTAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGACTGCAACCTCCACCTCCCGGGTTGAAGCGTTGCTCCTGCCTCAATCTCCCAATTAGCTGGGATTACAGGTGTGCTCCATCATGCCCGGCTAATTTTTCTATTATTAGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTGGAACCCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATTGTGCCTGGCCCTACACGTGGACACTTCTTTAGCATATGGTTAGGGACCTTTCTAGAAATTCCAAAGACAGACTTTAAGAAGCCCCGTCGGGAAACCTTAGGCCAATGATGTGGTTACATTAAAAATAAATTATCTGGGAATTTCACAGACTTCACAAATGTCAGGCTTACATGGTAGGTTTAGGGGACCGTTTGAGAGACAAAGATCTACATTCATATATGTAGCTATACATATATGTACTTTTTCTTCTTAGTTTCTTTTTAAAGACATTTTATCACTCATTCGCTCATTAGCACATTGGGAATGTGTGTATTTGGTAGGGAAATGAAAGGCACCTTGCCTGTTCCATCTCTACTCCTTTTTTCTTTTGTTTTAGGATTTTCTAAAGGTGAGACACTGGTGGAACTGGGGTAGCTGCTTGGGACGTACCACCTATAGTTGTGGCTATTTCACAGAGAAGCAGCAGCTAGACAGACTCCCATCTGTAAATAAACAAGAGATAGGAAGAGGGGGAAATAGATTTGGAGGAGGCAGCCCTACATTTCAAACATACATTCCCTTTTTTAGATTTTTTTTTTTTTTTTTTTGGTTTTCAGTTTTGATGGTGGGATTGGAAAATAGAGCTTGGCTTGAGGACATTTTCCTGGGGTGGCACCATTATTTCTTGAAATAGAATCTTACTTATGGTGACACTGGN | pathogenic | 307,137 |
Variant in gene CRX (cone-rod homeobox), located at chromosome 19 position 47839653: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Cone-rod_dystrophy_2', 'Leber_congenital_amaurosis_7', 'Retinal_dystrophy', 'Stargardt_disease'] | ATGATGTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCATGATTGGATGACTGGATGGGTTTATTTGTGTATATATGAGTGTACGCATGTATATATAATTAGATGGATAAATGAAATGTGTGTCTGCATGATTGTATGTATGGATTAATGTGTATATATGTATGATGTATGTGTGTACAATGTATGTATGTATAATTGTATGTTTGTATGATCAGATGGATGGATGAATGTGTATGATGTATATATGTATGATCAGATGGCTCCATTAATGCATGTATGATGTATGCGTGTATGATGCATGTACACTTGCATGTATGATCAGATGAGCCAGTGAATGTATGTATGATGTATATGTGTATGATGTATGTATGTATGATCAGATAGATGGGTAAACGTATGCATGATGTATGTGCGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATAGATGGGTAAATGCAGGCATGATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGATGGATGAAAATGTGTATGATGTACGTATGATCATATAGATGGGTAAATGTATGCATGATATATGTGCGTATGGTGTATATATGTATAACTGTACGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATCGATGGGTAAATGCAGGCATGATGTATGTGCGTATGGTGTATGCATGTATAATTGTACGTGTGCATGTTTGCATTAGACGGATGGGATGAATGCACATGGGTATGATGTATGCATGTGTTCATGCACACATGCAGGTATGATTGGATGGATAGATGGATGGATGGGTGAATAGACGCCCCACAGCTGGATGCAAAGTAGACAGATGTGAACCCAGCACCTCTCACCAATAAGTGTCCTCATCCCCGGGCACCCTGCGGCTCTCCTGGGCCTCTTCCCCACTTACCCACCCCCATCTCCGCTCTTATCCCCCAGGTTTGGTTCAAGAACCGGAGGGCTAAATGCAGGCAGCAGCGACAGCAGCAGAAACAGCAGCAGCAGCCCCCAGGGGGCCAGGCCAAGGCCCGGCCTGCCAAGAGGAAGGCGGGCACGTCCCCAAGACCCTCCACAGATGTGTGTCCAGACCCTCTGGGCATCTCAGATTCCTACAGTCCCCCTCTGCCCGGCCCCTCAGGCTCCCCAACCACGGCAGTGGCCACTGTGTCCATCTGGAGCCCAGCCTCAGAGTCCCCTTTGCCTGAGGCGCAGCGGGCTGGGCTGGTGGCCTCAGGGCCGTCTCTGACCTCCGCCCCCTATGCCATGACCTACGCCCCGGCCTCCGCTTTCTGCTCTTCCCCCTCCGCCTATGGGTCTCCGAGCTCCTATTTCAGCGGCCTAGACCCCTACCTTTCTCCCATGGTGCCCCAGCTAGGGGGCCCGGCTCTTAGCCCCCTCTCTGGCCCCTCCGTGGGACCTTCCCTGGCCCAGTCCCCCACCTCCCTATCAGGCCAGAGCTATGGCGCCTACAGCCCCGTGGATAGCTTGGAATTCAAGGACCCCACGGGCACCTGGAAATTCACCTACAATCCCATGGACCCTCTGGACTACAAGGATCAGAGTGCCTGGAAGTTTCAGATCTTGTAGAGGACGCAGTCTCCATCTCTCTCCATCGGGCCTCGGGACCCTTTCTCTTCTGAATCTGCTTCCCTGCAGTTTAGATCCCGGGATGGCATTCCTGAGAAAGCAACCCGAACCAGCTGTCCTTCTGACAGCTCGGTGTTCAGCTTACAGAGACCACCCCTTTCCTCCACAGGGAGAGGCTCCTCCCTCTCCTGGGACAGCTCACAGGTCCTAGTGATTCTCTCAACCCTAACACCGTCTGGCACGATTGTGACCGCTGAAGTACACCACGAGCTCCAGGCTTCAGAAAGTGGTGCTGAGAACTTGCTCCAAGAAGAAGTCAAACCAAACTTGCAGTTGATTTGGGGTCATGTTTAGGTCAGAATCACCGTGCCCTTGAACAAGCAGGTAGGGGGGCTTGATAACTTAACTTTCCACGTGGACAGAATTTTTTTTTTTGTTTTGTTTTTGTTTTGCAGACACAGTCTAGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAAGCTCTACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGATGCCCACCACCAGGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTTTTTTTTTTTTTTTTTTTTAATTGAGACGGAGTCTCACTCTTTTGCTTAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGACTGCAACCTCCACCTCCCGGGTTGAAGCGTTGCTCCTGCCTCAATCTCCCAATTAGCTGGGATTACAGGTGTGCTCCATCATGCCCGGCTAATTTTTCTATTATTAGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTGGAACCCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATTGTGCCTGGCCCTACACGTGGACACTTCTTTAGCATATGGTTAGGGACCTTTCTAGAAATTCCAAAGACAGACTTTAAGAAGCCCCGTCGGGAAACCTTAGGCCAATGATGTGGTTACATTAAAAATAAATTATCTGGGAATTTCACAGACTTCACAAATGTCAGGCTTACATGGTAGGTTTAGGGGACCGTTTGAGAGACAAAGATCTACATTCATATATGTAGCTATACATATATGTACTTTTTCTTCTTAGTTTCTTTTTAAAGACATTTTATCACTCATTCGCTCATTAGCACATTGGGAATGTGTGTATTTGGTAGGGAAATGAAAGGCACCTTGCCTGTTCCATCTCTACTCCTTTTTTCTTTTGTTTTAGGATTTTCTAAAGGTGAGACACTGGTGGAACTGGGGTAGCTGCTTGGGACGTACCACCTATAGTTGTGGCTATTTCACAGAGAAGCAGCAGCTAGACAGACTCCCATCTGTAAATAAACAAGAGATAGGAAGAGGGGGAAATAGATTTGGAGGAGGCAGCCCTACATTTCAAACATACATTCCCTTTTTTAGATTTTTTTTTTTTTTTTTTTGGTTTTCAGTTTTGATGGTGGGATTGGAAAATAGAGCTTGGCTTGAGGACATTTTCCTGGGGTGGCACCATTATTTCTTGAAATAGAATCTTACTTATGGTGACACTGGC | ATGATGTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCATGATTGGATGACTGGATGGGTTTATTTGTGTATATATGAGTGTACGCATGTATATATAATTAGATGGATAAATGAAATGTGTGTCTGCATGATTGTATGTATGGATTAATGTGTATATATGTATGATGTATGTGTGTACAATGTATGTATGTATAATTGTATGTTTGTATGATCAGATGGATGGATGAATGTGTATGATGTATATATGTATGATCAGATGGCTCCATTAATGCATGTATGATGTATGCGTGTATGATGCATGTACACTTGCATGTATGATCAGATGAGCCAGTGAATGTATGTATGATGTATATGTGTATGATGTATGTATGTATGATCAGATAGATGGGTAAACGTATGCATGATGTATGTGCGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATAGATGGGTAAATGCAGGCATGATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGATGGATGAAAATGTGTATGATGTACGTATGATCATATAGATGGGTAAATGTATGCATGATATATGTGCGTATGGTGTATATATGTATAACTGTACGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATCGATGGGTAAATGCAGGCATGATGTATGTGCGTATGGTGTATGCATGTATAATTGTACGTGTGCATGTTTGCATTAGACGGATGGGATGAATGCACATGGGTATGATGTATGCATGTGTTCATGCACACATGCAGGTATGATTGGATGGATAGATGGATGGATGGGTGAATAGACGCCCCACAGCTGGATGCAAAGTAGACAGATGTGAACCCAGCACCTCTCACCAATAAGTGTCCTCATCCCCGGGCACCCTGCGGCTCTCCTGGGCCTCTTCCCCACTTACCCACCCCCATCTCCGCTCTTATCCCCCAGGTTTGGTTCAAGAACCGGAGGGCTAAATGCAGGCAGCAGCGACAGCAGCAGAAACAGCAGCAGCAGCCCCCAGGGGGCCAGGCCAAGGCCCGGCCTGCCAAGAGGAAGGCGGGCACGTCCCCAAGACCCTCCACAGATGTGTGTCCAGACCCTCTGGGCATCTCAGATTCCTACAGTCCCCCTCTGCCCGGCCCCTCAGGCTCCCCAACCACGGCAGTGGCCACTGTGTCCATCTGGAGCCCAGCCTCAGAGTCCCCTTTGCCTGAGGCGCAGCGGGCTGGGCTGGTGGCCTCAGGGCCGTCTCTGACCTCCGCCCCCTATGCCATGACCTACGCCCGGCCTCCGCTTTCTGCTCTTCCCCCTCCGCCTATGGGTCTCCGAGCTCCTATTTCAGCGGCCTAGACCCCTACCTTTCTCCCATGGTGCCCCAGCTAGGGGGCCCGGCTCTTAGCCCCCTCTCTGGCCCCTCCGTGGGACCTTCCCTGGCCCAGTCCCCCACCTCCCTATCAGGCCAGAGCTATGGCGCCTACAGCCCCGTGGATAGCTTGGAATTCAAGGACCCCACGGGCACCTGGAAATTCACCTACAATCCCATGGACCCTCTGGACTACAAGGATCAGAGTGCCTGGAAGTTTCAGATCTTGTAGAGGACGCAGTCTCCATCTCTCTCCATCGGGCCTCGGGACCCTTTCTCTTCTGAATCTGCTTCCCTGCAGTTTAGATCCCGGGATGGCATTCCTGAGAAAGCAACCCGAACCAGCTGTCCTTCTGACAGCTCGGTGTTCAGCTTACAGAGACCACCCCTTTCCTCCACAGGGAGAGGCTCCTCCCTCTCCTGGGACAGCTCACAGGTCCTAGTGATTCTCTCAACCCTAACACCGTCTGGCACGATTGTGACCGCTGAAGTACACCACGAGCTCCAGGCTTCAGAAAGTGGTGCTGAGAACTTGCTCCAAGAAGAAGTCAAACCAAACTTGCAGTTGATTTGGGGTCATGTTTAGGTCAGAATCACCGTGCCCTTGAACAAGCAGGTAGGGGGGCTTGATAACTTAACTTTCCACGTGGACAGAATTTTTTTTTTTGTTTTGTTTTTGTTTTGCAGACACAGTCTAGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAAGCTCTACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGATGCCCACCACCAGGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTTTTTTTTTTTTTTTTTTTTAATTGAGACGGAGTCTCACTCTTTTGCTTAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGACTGCAACCTCCACCTCCCGGGTTGAAGCGTTGCTCCTGCCTCAATCTCCCAATTAGCTGGGATTACAGGTGTGCTCCATCATGCCCGGCTAATTTTTCTATTATTAGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTGGAACCCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATTGTGCCTGGCCCTACACGTGGACACTTCTTTAGCATATGGTTAGGGACCTTTCTAGAAATTCCAAAGACAGACTTTAAGAAGCCCCGTCGGGAAACCTTAGGCCAATGATGTGGTTACATTAAAAATAAATTATCTGGGAATTTCACAGACTTCACAAATGTCAGGCTTACATGGTAGGTTTAGGGGACCGTTTGAGAGACAAAGATCTACATTCATATATGTAGCTATACATATATGTACTTTTTCTTCTTAGTTTCTTTTTAAAGACATTTTATCACTCATTCGCTCATTAGCACATTGGGAATGTGTGTATTTGGTAGGGAAATGAAAGGCACCTTGCCTGTTCCATCTCTACTCCTTTTTTCTTTTGTTTTAGGATTTTCTAAAGGTGAGACACTGGTGGAACTGGGGTAGCTGCTTGGGACGTACCACCTATAGTTGTGGCTATTTCACAGAGAAGCAGCAGCTAGACAGACTCCCATCTGTAAATAAACAAGAGATAGGAAGAGGGGGAAATAGATTTGGAGGAGGCAGCCCTACATTTCAAACATACATTCCCTTTTTTAGATTTTTTTTTTTTTTTTTTTGGTTTTCAGTTTTGATGGTGGGATTGGAAAATAGAGCTTGGCTTGAGGACATTTTCCTGGGGTGGCACCATTATTTCTTGAAATAGAATCTTACTTATGGTGACACTGGCN | pathogenic | 307,138 |
Considering the genetic mutation at chromosome 19, position 47839658, impacting CRX (cone-rod homeobox): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Cone-rod_dystrophy_2', 'Leber_congenital_amaurosis_7', 'Retinal_dystrophy'] | GTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCATGATTGGATGACTGGATGGGTTTATTTGTGTATATATGAGTGTACGCATGTATATATAATTAGATGGATAAATGAAATGTGTGTCTGCATGATTGTATGTATGGATTAATGTGTATATATGTATGATGTATGTGTGTACAATGTATGTATGTATAATTGTATGTTTGTATGATCAGATGGATGGATGAATGTGTATGATGTATATATGTATGATCAGATGGCTCCATTAATGCATGTATGATGTATGCGTGTATGATGCATGTACACTTGCATGTATGATCAGATGAGCCAGTGAATGTATGTATGATGTATATGTGTATGATGTATGTATGTATGATCAGATAGATGGGTAAACGTATGCATGATGTATGTGCGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATAGATGGGTAAATGCAGGCATGATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGATGGATGAAAATGTGTATGATGTACGTATGATCATATAGATGGGTAAATGTATGCATGATATATGTGCGTATGGTGTATATATGTATAACTGTACGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATCGATGGGTAAATGCAGGCATGATGTATGTGCGTATGGTGTATGCATGTATAATTGTACGTGTGCATGTTTGCATTAGACGGATGGGATGAATGCACATGGGTATGATGTATGCATGTGTTCATGCACACATGCAGGTATGATTGGATGGATAGATGGATGGATGGGTGAATAGACGCCCCACAGCTGGATGCAAAGTAGACAGATGTGAACCCAGCACCTCTCACCAATAAGTGTCCTCATCCCCGGGCACCCTGCGGCTCTCCTGGGCCTCTTCCCCACTTACCCACCCCCATCTCCGCTCTTATCCCCCAGGTTTGGTTCAAGAACCGGAGGGCTAAATGCAGGCAGCAGCGACAGCAGCAGAAACAGCAGCAGCAGCCCCCAGGGGGCCAGGCCAAGGCCCGGCCTGCCAAGAGGAAGGCGGGCACGTCCCCAAGACCCTCCACAGATGTGTGTCCAGACCCTCTGGGCATCTCAGATTCCTACAGTCCCCCTCTGCCCGGCCCCTCAGGCTCCCCAACCACGGCAGTGGCCACTGTGTCCATCTGGAGCCCAGCCTCAGAGTCCCCTTTGCCTGAGGCGCAGCGGGCTGGGCTGGTGGCCTCAGGGCCGTCTCTGACCTCCGCCCCCTATGCCATGACCTACGCCCCGGCCTCCGCTTTCTGCTCTTCCCCCTCCGCCTATGGGTCTCCGAGCTCCTATTTCAGCGGCCTAGACCCCTACCTTTCTCCCATGGTGCCCCAGCTAGGGGGCCCGGCTCTTAGCCCCCTCTCTGGCCCCTCCGTGGGACCTTCCCTGGCCCAGTCCCCCACCTCCCTATCAGGCCAGAGCTATGGCGCCTACAGCCCCGTGGATAGCTTGGAATTCAAGGACCCCACGGGCACCTGGAAATTCACCTACAATCCCATGGACCCTCTGGACTACAAGGATCAGAGTGCCTGGAAGTTTCAGATCTTGTAGAGGACGCAGTCTCCATCTCTCTCCATCGGGCCTCGGGACCCTTTCTCTTCTGAATCTGCTTCCCTGCAGTTTAGATCCCGGGATGGCATTCCTGAGAAAGCAACCCGAACCAGCTGTCCTTCTGACAGCTCGGTGTTCAGCTTACAGAGACCACCCCTTTCCTCCACAGGGAGAGGCTCCTCCCTCTCCTGGGACAGCTCACAGGTCCTAGTGATTCTCTCAACCCTAACACCGTCTGGCACGATTGTGACCGCTGAAGTACACCACGAGCTCCAGGCTTCAGAAAGTGGTGCTGAGAACTTGCTCCAAGAAGAAGTCAAACCAAACTTGCAGTTGATTTGGGGTCATGTTTAGGTCAGAATCACCGTGCCCTTGAACAAGCAGGTAGGGGGGCTTGATAACTTAACTTTCCACGTGGACAGAATTTTTTTTTTTGTTTTGTTTTTGTTTTGCAGACACAGTCTAGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAAGCTCTACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGATGCCCACCACCAGGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTTTTTTTTTTTTTTTTTTTTAATTGAGACGGAGTCTCACTCTTTTGCTTAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGACTGCAACCTCCACCTCCCGGGTTGAAGCGTTGCTCCTGCCTCAATCTCCCAATTAGCTGGGATTACAGGTGTGCTCCATCATGCCCGGCTAATTTTTCTATTATTAGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTGGAACCCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATTGTGCCTGGCCCTACACGTGGACACTTCTTTAGCATATGGTTAGGGACCTTTCTAGAAATTCCAAAGACAGACTTTAAGAAGCCCCGTCGGGAAACCTTAGGCCAATGATGTGGTTACATTAAAAATAAATTATCTGGGAATTTCACAGACTTCACAAATGTCAGGCTTACATGGTAGGTTTAGGGGACCGTTTGAGAGACAAAGATCTACATTCATATATGTAGCTATACATATATGTACTTTTTCTTCTTAGTTTCTTTTTAAAGACATTTTATCACTCATTCGCTCATTAGCACATTGGGAATGTGTGTATTTGGTAGGGAAATGAAAGGCACCTTGCCTGTTCCATCTCTACTCCTTTTTTCTTTTGTTTTAGGATTTTCTAAAGGTGAGACACTGGTGGAACTGGGGTAGCTGCTTGGGACGTACCACCTATAGTTGTGGCTATTTCACAGAGAAGCAGCAGCTAGACAGACTCCCATCTGTAAATAAACAAGAGATAGGAAGAGGGGGAAATAGATTTGGAGGAGGCAGCCCTACATTTCAAACATACATTCCCTTTTTTAGATTTTTTTTTTTTTTTTTTTGGTTTTCAGTTTTGATGGTGGGATTGGAAAATAGAGCTTGGCTTGAGGACATTTTCCTGGGGTGGCACCATTATTTCTTGAAATAGAATCTTACTTATGGTGACACTGGCAAGCA | GTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCATGATTGGATGACTGGATGGGTTTATTTGTGTATATATGAGTGTACGCATGTATATATAATTAGATGGATAAATGAAATGTGTGTCTGCATGATTGTATGTATGGATTAATGTGTATATATGTATGATGTATGTGTGTACAATGTATGTATGTATAATTGTATGTTTGTATGATCAGATGGATGGATGAATGTGTATGATGTATATATGTATGATCAGATGGCTCCATTAATGCATGTATGATGTATGCGTGTATGATGCATGTACACTTGCATGTATGATCAGATGAGCCAGTGAATGTATGTATGATGTATATGTGTATGATGTATGTATGTATGATCAGATAGATGGGTAAACGTATGCATGATGTATGTGCGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATAGATGGGTAAATGCAGGCATGATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGATGGATGAAAATGTGTATGATGTACGTATGATCATATAGATGGGTAAATGTATGCATGATATATGTGCGTATGGTGTATATATGTATAACTGTACGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATCGATGGGTAAATGCAGGCATGATGTATGTGCGTATGGTGTATGCATGTATAATTGTACGTGTGCATGTTTGCATTAGACGGATGGGATGAATGCACATGGGTATGATGTATGCATGTGTTCATGCACACATGCAGGTATGATTGGATGGATAGATGGATGGATGGGTGAATAGACGCCCCACAGCTGGATGCAAAGTAGACAGATGTGAACCCAGCACCTCTCACCAATAAGTGTCCTCATCCCCGGGCACCCTGCGGCTCTCCTGGGCCTCTTCCCCACTTACCCACCCCCATCTCCGCTCTTATCCCCCAGGTTTGGTTCAAGAACCGGAGGGCTAAATGCAGGCAGCAGCGACAGCAGCAGAAACAGCAGCAGCAGCCCCCAGGGGGCCAGGCCAAGGCCCGGCCTGCCAAGAGGAAGGCGGGCACGTCCCCAAGACCCTCCACAGATGTGTGTCCAGACCCTCTGGGCATCTCAGATTCCTACAGTCCCCCTCTGCCCGGCCCCTCAGGCTCCCCAACCACGGCAGTGGCCACTGTGTCCATCTGGAGCCCAGCCTCAGAGTCCCCTTTGCCTGAGGCGCAGCGGGCTGGGCTGGTGGCCTCAGGGCCGTCTCTGACCTCCGCCCCCTATGCCATGACCTACGCCCCGGCTCTTCCCCCTCCGCCTATGGGTCTCCGAGCTCCTATTTCAGCGGCCTAGACCCCTACCTTTCTCCCATGGTGCCCCAGCTAGGGGGCCCGGCTCTTAGCCCCCTCTCTGGCCCCTCCGTGGGACCTTCCCTGGCCCAGTCCCCCACCTCCCTATCAGGCCAGAGCTATGGCGCCTACAGCCCCGTGGATAGCTTGGAATTCAAGGACCCCACGGGCACCTGGAAATTCACCTACAATCCCATGGACCCTCTGGACTACAAGGATCAGAGTGCCTGGAAGTTTCAGATCTTGTAGAGGACGCAGTCTCCATCTCTCTCCATCGGGCCTCGGGACCCTTTCTCTTCTGAATCTGCTTCCCTGCAGTTTAGATCCCGGGATGGCATTCCTGAGAAAGCAACCCGAACCAGCTGTCCTTCTGACAGCTCGGTGTTCAGCTTACAGAGACCACCCCTTTCCTCCACAGGGAGAGGCTCCTCCCTCTCCTGGGACAGCTCACAGGTCCTAGTGATTCTCTCAACCCTAACACCGTCTGGCACGATTGTGACCGCTGAAGTACACCACGAGCTCCAGGCTTCAGAAAGTGGTGCTGAGAACTTGCTCCAAGAAGAAGTCAAACCAAACTTGCAGTTGATTTGGGGTCATGTTTAGGTCAGAATCACCGTGCCCTTGAACAAGCAGGTAGGGGGGCTTGATAACTTAACTTTCCACGTGGACAGAATTTTTTTTTTTGTTTTGTTTTTGTTTTGCAGACACAGTCTAGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAAGCTCTACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGATGCCCACCACCAGGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTTTTTTTTTTTTTTTTTTTTAATTGAGACGGAGTCTCACTCTTTTGCTTAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGACTGCAACCTCCACCTCCCGGGTTGAAGCGTTGCTCCTGCCTCAATCTCCCAATTAGCTGGGATTACAGGTGTGCTCCATCATGCCCGGCTAATTTTTCTATTATTAGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTGGAACCCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATTGTGCCTGGCCCTACACGTGGACACTTCTTTAGCATATGGTTAGGGACCTTTCTAGAAATTCCAAAGACAGACTTTAAGAAGCCCCGTCGGGAAACCTTAGGCCAATGATGTGGTTACATTAAAAATAAATTATCTGGGAATTTCACAGACTTCACAAATGTCAGGCTTACATGGTAGGTTTAGGGGACCGTTTGAGAGACAAAGATCTACATTCATATATGTAGCTATACATATATGTACTTTTTCTTCTTAGTTTCTTTTTAAAGACATTTTATCACTCATTCGCTCATTAGCACATTGGGAATGTGTGTATTTGGTAGGGAAATGAAAGGCACCTTGCCTGTTCCATCTCTACTCCTTTTTTCTTTTGTTTTAGGATTTTCTAAAGGTGAGACACTGGTGGAACTGGGGTAGCTGCTTGGGACGTACCACCTATAGTTGTGGCTATTTCACAGAGAAGCAGCAGCTAGACAGACTCCCATCTGTAAATAAACAAGAGATAGGAAGAGGGGGAAATAGATTTGGAGGAGGCAGCCCTACATTTCAAACATACATTCCCTTTTTTAGATTTTTTTTTTTTTTTTTTTGGTTTTCAGTTTTGATGGTGGGATTGGAAAATAGAGCTTGGCTTGAGGACATTTTCCTGGGGTGGCACCATTATTTCTTGAAATAGAATCTTACTTATGGTGACACTGGCAAGCANNNNNNNNNNNNN | pathogenic | 307,139 |
Variant on chromosome 19, at position 47839677, affecting CRX (cone-rod homeobox): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Cone-rod_dystrophy_2', 'Leber_congenital_amaurosis_7', 'Retinal_dystrophy'] | TATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCATGATTGGATGACTGGATGGGTTTATTTGTGTATATATGAGTGTACGCATGTATATATAATTAGATGGATAAATGAAATGTGTGTCTGCATGATTGTATGTATGGATTAATGTGTATATATGTATGATGTATGTGTGTACAATGTATGTATGTATAATTGTATGTTTGTATGATCAGATGGATGGATGAATGTGTATGATGTATATATGTATGATCAGATGGCTCCATTAATGCATGTATGATGTATGCGTGTATGATGCATGTACACTTGCATGTATGATCAGATGAGCCAGTGAATGTATGTATGATGTATATGTGTATGATGTATGTATGTATGATCAGATAGATGGGTAAACGTATGCATGATGTATGTGCGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATAGATGGGTAAATGCAGGCATGATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGATGGATGAAAATGTGTATGATGTACGTATGATCATATAGATGGGTAAATGTATGCATGATATATGTGCGTATGGTGTATATATGTATAACTGTACGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATCGATGGGTAAATGCAGGCATGATGTATGTGCGTATGGTGTATGCATGTATAATTGTACGTGTGCATGTTTGCATTAGACGGATGGGATGAATGCACATGGGTATGATGTATGCATGTGTTCATGCACACATGCAGGTATGATTGGATGGATAGATGGATGGATGGGTGAATAGACGCCCCACAGCTGGATGCAAAGTAGACAGATGTGAACCCAGCACCTCTCACCAATAAGTGTCCTCATCCCCGGGCACCCTGCGGCTCTCCTGGGCCTCTTCCCCACTTACCCACCCCCATCTCCGCTCTTATCCCCCAGGTTTGGTTCAAGAACCGGAGGGCTAAATGCAGGCAGCAGCGACAGCAGCAGAAACAGCAGCAGCAGCCCCCAGGGGGCCAGGCCAAGGCCCGGCCTGCCAAGAGGAAGGCGGGCACGTCCCCAAGACCCTCCACAGATGTGTGTCCAGACCCTCTGGGCATCTCAGATTCCTACAGTCCCCCTCTGCCCGGCCCCTCAGGCTCCCCAACCACGGCAGTGGCCACTGTGTCCATCTGGAGCCCAGCCTCAGAGTCCCCTTTGCCTGAGGCGCAGCGGGCTGGGCTGGTGGCCTCAGGGCCGTCTCTGACCTCCGCCCCCTATGCCATGACCTACGCCCCGGCCTCCGCTTTCTGCTCTTCCCCCTCCGCCTATGGGTCTCCGAGCTCCTATTTCAGCGGCCTAGACCCCTACCTTTCTCCCATGGTGCCCCAGCTAGGGGGCCCGGCTCTTAGCCCCCTCTCTGGCCCCTCCGTGGGACCTTCCCTGGCCCAGTCCCCCACCTCCCTATCAGGCCAGAGCTATGGCGCCTACAGCCCCGTGGATAGCTTGGAATTCAAGGACCCCACGGGCACCTGGAAATTCACCTACAATCCCATGGACCCTCTGGACTACAAGGATCAGAGTGCCTGGAAGTTTCAGATCTTGTAGAGGACGCAGTCTCCATCTCTCTCCATCGGGCCTCGGGACCCTTTCTCTTCTGAATCTGCTTCCCTGCAGTTTAGATCCCGGGATGGCATTCCTGAGAAAGCAACCCGAACCAGCTGTCCTTCTGACAGCTCGGTGTTCAGCTTACAGAGACCACCCCTTTCCTCCACAGGGAGAGGCTCCTCCCTCTCCTGGGACAGCTCACAGGTCCTAGTGATTCTCTCAACCCTAACACCGTCTGGCACGATTGTGACCGCTGAAGTACACCACGAGCTCCAGGCTTCAGAAAGTGGTGCTGAGAACTTGCTCCAAGAAGAAGTCAAACCAAACTTGCAGTTGATTTGGGGTCATGTTTAGGTCAGAATCACCGTGCCCTTGAACAAGCAGGTAGGGGGGCTTGATAACTTAACTTTCCACGTGGACAGAATTTTTTTTTTTGTTTTGTTTTTGTTTTGCAGACACAGTCTAGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAAGCTCTACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGATGCCCACCACCAGGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTTTTTTTTTTTTTTTTTTTTAATTGAGACGGAGTCTCACTCTTTTGCTTAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGACTGCAACCTCCACCTCCCGGGTTGAAGCGTTGCTCCTGCCTCAATCTCCCAATTAGCTGGGATTACAGGTGTGCTCCATCATGCCCGGCTAATTTTTCTATTATTAGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTGGAACCCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATTGTGCCTGGCCCTACACGTGGACACTTCTTTAGCATATGGTTAGGGACCTTTCTAGAAATTCCAAAGACAGACTTTAAGAAGCCCCGTCGGGAAACCTTAGGCCAATGATGTGGTTACATTAAAAATAAATTATCTGGGAATTTCACAGACTTCACAAATGTCAGGCTTACATGGTAGGTTTAGGGGACCGTTTGAGAGACAAAGATCTACATTCATATATGTAGCTATACATATATGTACTTTTTCTTCTTAGTTTCTTTTTAAAGACATTTTATCACTCATTCGCTCATTAGCACATTGGGAATGTGTGTATTTGGTAGGGAAATGAAAGGCACCTTGCCTGTTCCATCTCTACTCCTTTTTTCTTTTGTTTTAGGATTTTCTAAAGGTGAGACACTGGTGGAACTGGGGTAGCTGCTTGGGACGTACCACCTATAGTTGTGGCTATTTCACAGAGAAGCAGCAGCTAGACAGACTCCCATCTGTAAATAAACAAGAGATAGGAAGAGGGGGAAATAGATTTGGAGGAGGCAGCCCTACATTTCAAACATACATTCCCTTTTTTAGATTTTTTTTTTTTTTTTTTTGGTTTTCAGTTTTGATGGTGGGATTGGAAAATAGAGCTTGGCTTGAGGACATTTTCCTGGGGTGGCACCATTATTTCTTGAAATAGAATCTTACTTATGGTGACACTGGCAAGCACTTGTGAGAACCTGAAGAC | TATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCATGATTGGATGACTGGATGGGTTTATTTGTGTATATATGAGTGTACGCATGTATATATAATTAGATGGATAAATGAAATGTGTGTCTGCATGATTGTATGTATGGATTAATGTGTATATATGTATGATGTATGTGTGTACAATGTATGTATGTATAATTGTATGTTTGTATGATCAGATGGATGGATGAATGTGTATGATGTATATATGTATGATCAGATGGCTCCATTAATGCATGTATGATGTATGCGTGTATGATGCATGTACACTTGCATGTATGATCAGATGAGCCAGTGAATGTATGTATGATGTATATGTGTATGATGTATGTATGTATGATCAGATAGATGGGTAAACGTATGCATGATGTATGTGCGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATAGATGGGTAAATGCAGGCATGATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGATGGATGAAAATGTGTATGATGTACGTATGATCATATAGATGGGTAAATGTATGCATGATATATGTGCGTATGGTGTATATATGTATAACTGTACGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATCGATGGGTAAATGCAGGCATGATGTATGTGCGTATGGTGTATGCATGTATAATTGTACGTGTGCATGTTTGCATTAGACGGATGGGATGAATGCACATGGGTATGATGTATGCATGTGTTCATGCACACATGCAGGTATGATTGGATGGATAGATGGATGGATGGGTGAATAGACGCCCCACAGCTGGATGCAAAGTAGACAGATGTGAACCCAGCACCTCTCACCAATAAGTGTCCTCATCCCCGGGCACCCTGCGGCTCTCCTGGGCCTCTTCCCCACTTACCCACCCCCATCTCCGCTCTTATCCCCCAGGTTTGGTTCAAGAACCGGAGGGCTAAATGCAGGCAGCAGCGACAGCAGCAGAAACAGCAGCAGCAGCCCCCAGGGGGCCAGGCCAAGGCCCGGCCTGCCAAGAGGAAGGCGGGCACGTCCCCAAGACCCTCCACAGATGTGTGTCCAGACCCTCTGGGCATCTCAGATTCCTACAGTCCCCCTCTGCCCGGCCCCTCAGGCTCCCCAACCACGGCAGTGGCCACTGTGTCCATCTGGAGCCCAGCCTCAGAGTCCCCTTTGCCTGAGGCGCAGCGGGCTGGGCTGGTGGCCTCAGGGCCGTCTCTGACCTCCGCCCCCTATGCCATGACCTACGCCCCGGCCTCCGCTTTCTGCTCTTCCCCTCCGCCTATGGGTCTCCGAGCTCCTATTTCAGCGGCCTAGACCCCTACCTTTCTCCCATGGTGCCCCAGCTAGGGGGCCCGGCTCTTAGCCCCCTCTCTGGCCCCTCCGTGGGACCTTCCCTGGCCCAGTCCCCCACCTCCCTATCAGGCCAGAGCTATGGCGCCTACAGCCCCGTGGATAGCTTGGAATTCAAGGACCCCACGGGCACCTGGAAATTCACCTACAATCCCATGGACCCTCTGGACTACAAGGATCAGAGTGCCTGGAAGTTTCAGATCTTGTAGAGGACGCAGTCTCCATCTCTCTCCATCGGGCCTCGGGACCCTTTCTCTTCTGAATCTGCTTCCCTGCAGTTTAGATCCCGGGATGGCATTCCTGAGAAAGCAACCCGAACCAGCTGTCCTTCTGACAGCTCGGTGTTCAGCTTACAGAGACCACCCCTTTCCTCCACAGGGAGAGGCTCCTCCCTCTCCTGGGACAGCTCACAGGTCCTAGTGATTCTCTCAACCCTAACACCGTCTGGCACGATTGTGACCGCTGAAGTACACCACGAGCTCCAGGCTTCAGAAAGTGGTGCTGAGAACTTGCTCCAAGAAGAAGTCAAACCAAACTTGCAGTTGATTTGGGGTCATGTTTAGGTCAGAATCACCGTGCCCTTGAACAAGCAGGTAGGGGGGCTTGATAACTTAACTTTCCACGTGGACAGAATTTTTTTTTTTGTTTTGTTTTTGTTTTGCAGACACAGTCTAGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAAGCTCTACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGATGCCCACCACCAGGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTTTTTTTTTTTTTTTTTTTTAATTGAGACGGAGTCTCACTCTTTTGCTTAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGACTGCAACCTCCACCTCCCGGGTTGAAGCGTTGCTCCTGCCTCAATCTCCCAATTAGCTGGGATTACAGGTGTGCTCCATCATGCCCGGCTAATTTTTCTATTATTAGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTGGAACCCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATTGTGCCTGGCCCTACACGTGGACACTTCTTTAGCATATGGTTAGGGACCTTTCTAGAAATTCCAAAGACAGACTTTAAGAAGCCCCGTCGGGAAACCTTAGGCCAATGATGTGGTTACATTAAAAATAAATTATCTGGGAATTTCACAGACTTCACAAATGTCAGGCTTACATGGTAGGTTTAGGGGACCGTTTGAGAGACAAAGATCTACATTCATATATGTAGCTATACATATATGTACTTTTTCTTCTTAGTTTCTTTTTAAAGACATTTTATCACTCATTCGCTCATTAGCACATTGGGAATGTGTGTATTTGGTAGGGAAATGAAAGGCACCTTGCCTGTTCCATCTCTACTCCTTTTTTCTTTTGTTTTAGGATTTTCTAAAGGTGAGACACTGGTGGAACTGGGGTAGCTGCTTGGGACGTACCACCTATAGTTGTGGCTATTTCACAGAGAAGCAGCAGCTAGACAGACTCCCATCTGTAAATAAACAAGAGATAGGAAGAGGGGGAAATAGATTTGGAGGAGGCAGCCCTACATTTCAAACATACATTCCCTTTTTTAGATTTTTTTTTTTTTTTTTTTGGTTTTCAGTTTTGATGGTGGGATTGGAAAATAGAGCTTGGCTTGAGGACATTTTCCTGGGGTGGCACCATTATTTCTTGAAATAGAATCTTACTTATGGTGACACTGGCAAGCACTTGTGAGAACCTGAAGACN | pathogenic | 307,140 |
Variant in gene CRX (cone-rod homeobox), located at chromosome 19 position 47839723: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Benign_concentric_annular_macular_dystrophy', 'Cone-rod_dystrophy_2', 'Leber_congenital_amaurosis_7'] | ATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCATGATTGGATGACTGGATGGGTTTATTTGTGTATATATGAGTGTACGCATGTATATATAATTAGATGGATAAATGAAATGTGTGTCTGCATGATTGTATGTATGGATTAATGTGTATATATGTATGATGTATGTGTGTACAATGTATGTATGTATAATTGTATGTTTGTATGATCAGATGGATGGATGAATGTGTATGATGTATATATGTATGATCAGATGGCTCCATTAATGCATGTATGATGTATGCGTGTATGATGCATGTACACTTGCATGTATGATCAGATGAGCCAGTGAATGTATGTATGATGTATATGTGTATGATGTATGTATGTATGATCAGATAGATGGGTAAACGTATGCATGATGTATGTGCGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATAGATGGGTAAATGCAGGCATGATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGATGGATGAAAATGTGTATGATGTACGTATGATCATATAGATGGGTAAATGTATGCATGATATATGTGCGTATGGTGTATATATGTATAACTGTACGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATCGATGGGTAAATGCAGGCATGATGTATGTGCGTATGGTGTATGCATGTATAATTGTACGTGTGCATGTTTGCATTAGACGGATGGGATGAATGCACATGGGTATGATGTATGCATGTGTTCATGCACACATGCAGGTATGATTGGATGGATAGATGGATGGATGGGTGAATAGACGCCCCACAGCTGGATGCAAAGTAGACAGATGTGAACCCAGCACCTCTCACCAATAAGTGTCCTCATCCCCGGGCACCCTGCGGCTCTCCTGGGCCTCTTCCCCACTTACCCACCCCCATCTCCGCTCTTATCCCCCAGGTTTGGTTCAAGAACCGGAGGGCTAAATGCAGGCAGCAGCGACAGCAGCAGAAACAGCAGCAGCAGCCCCCAGGGGGCCAGGCCAAGGCCCGGCCTGCCAAGAGGAAGGCGGGCACGTCCCCAAGACCCTCCACAGATGTGTGTCCAGACCCTCTGGGCATCTCAGATTCCTACAGTCCCCCTCTGCCCGGCCCCTCAGGCTCCCCAACCACGGCAGTGGCCACTGTGTCCATCTGGAGCCCAGCCTCAGAGTCCCCTTTGCCTGAGGCGCAGCGGGCTGGGCTGGTGGCCTCAGGGCCGTCTCTGACCTCCGCCCCCTATGCCATGACCTACGCCCCGGCCTCCGCTTTCTGCTCTTCCCCCTCCGCCTATGGGTCTCCGAGCTCCTATTTCAGCGGCCTAGACCCCTACCTTTCTCCCATGGTGCCCCAGCTAGGGGGCCCGGCTCTTAGCCCCCTCTCTGGCCCCTCCGTGGGACCTTCCCTGGCCCAGTCCCCCACCTCCCTATCAGGCCAGAGCTATGGCGCCTACAGCCCCGTGGATAGCTTGGAATTCAAGGACCCCACGGGCACCTGGAAATTCACCTACAATCCCATGGACCCTCTGGACTACAAGGATCAGAGTGCCTGGAAGTTTCAGATCTTGTAGAGGACGCAGTCTCCATCTCTCTCCATCGGGCCTCGGGACCCTTTCTCTTCTGAATCTGCTTCCCTGCAGTTTAGATCCCGGGATGGCATTCCTGAGAAAGCAACCCGAACCAGCTGTCCTTCTGACAGCTCGGTGTTCAGCTTACAGAGACCACCCCTTTCCTCCACAGGGAGAGGCTCCTCCCTCTCCTGGGACAGCTCACAGGTCCTAGTGATTCTCTCAACCCTAACACCGTCTGGCACGATTGTGACCGCTGAAGTACACCACGAGCTCCAGGCTTCAGAAAGTGGTGCTGAGAACTTGCTCCAAGAAGAAGTCAAACCAAACTTGCAGTTGATTTGGGGTCATGTTTAGGTCAGAATCACCGTGCCCTTGAACAAGCAGGTAGGGGGGCTTGATAACTTAACTTTCCACGTGGACAGAATTTTTTTTTTTGTTTTGTTTTTGTTTTGCAGACACAGTCTAGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAAGCTCTACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGATGCCCACCACCAGGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTTTTTTTTTTTTTTTTTTTTAATTGAGACGGAGTCTCACTCTTTTGCTTAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGACTGCAACCTCCACCTCCCGGGTTGAAGCGTTGCTCCTGCCTCAATCTCCCAATTAGCTGGGATTACAGGTGTGCTCCATCATGCCCGGCTAATTTTTCTATTATTAGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTGGAACCCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATTGTGCCTGGCCCTACACGTGGACACTTCTTTAGCATATGGTTAGGGACCTTTCTAGAAATTCCAAAGACAGACTTTAAGAAGCCCCGTCGGGAAACCTTAGGCCAATGATGTGGTTACATTAAAAATAAATTATCTGGGAATTTCACAGACTTCACAAATGTCAGGCTTACATGGTAGGTTTAGGGGACCGTTTGAGAGACAAAGATCTACATTCATATATGTAGCTATACATATATGTACTTTTTCTTCTTAGTTTCTTTTTAAAGACATTTTATCACTCATTCGCTCATTAGCACATTGGGAATGTGTGTATTTGGTAGGGAAATGAAAGGCACCTTGCCTGTTCCATCTCTACTCCTTTTTTCTTTTGTTTTAGGATTTTCTAAAGGTGAGACACTGGTGGAACTGGGGTAGCTGCTTGGGACGTACCACCTATAGTTGTGGCTATTTCACAGAGAAGCAGCAGCTAGACAGACTCCCATCTGTAAATAAACAAGAGATAGGAAGAGGGGGAAATAGATTTGGAGGAGGCAGCCCTACATTTCAAACATACATTCCCTTTTTTAGATTTTTTTTTTTTTTTTTTTGGTTTTCAGTTTTGATGGTGGGATTGGAAAATAGAGCTTGGCTTGAGGACATTTTCCTGGGGTGGCACCATTATTTCTTGAAATAGAATCTTACTTATGGTGACACTGGCAAGCACTTGTGAGAACCTGAAGACGGATTGAGGTCATTTGATGCTCAGAAGTTGGGTGCTGGGTCCCTGC | ATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCATGATTGGATGACTGGATGGGTTTATTTGTGTATATATGAGTGTACGCATGTATATATAATTAGATGGATAAATGAAATGTGTGTCTGCATGATTGTATGTATGGATTAATGTGTATATATGTATGATGTATGTGTGTACAATGTATGTATGTATAATTGTATGTTTGTATGATCAGATGGATGGATGAATGTGTATGATGTATATATGTATGATCAGATGGCTCCATTAATGCATGTATGATGTATGCGTGTATGATGCATGTACACTTGCATGTATGATCAGATGAGCCAGTGAATGTATGTATGATGTATATGTGTATGATGTATGTATGTATGATCAGATAGATGGGTAAACGTATGCATGATGTATGTGCGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATAGATGGGTAAATGCAGGCATGATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGATGGATGAAAATGTGTATGATGTACGTATGATCATATAGATGGGTAAATGTATGCATGATATATGTGCGTATGGTGTATATATGTATAACTGTACGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATCGATGGGTAAATGCAGGCATGATGTATGTGCGTATGGTGTATGCATGTATAATTGTACGTGTGCATGTTTGCATTAGACGGATGGGATGAATGCACATGGGTATGATGTATGCATGTGTTCATGCACACATGCAGGTATGATTGGATGGATAGATGGATGGATGGGTGAATAGACGCCCCACAGCTGGATGCAAAGTAGACAGATGTGAACCCAGCACCTCTCACCAATAAGTGTCCTCATCCCCGGGCACCCTGCGGCTCTCCTGGGCCTCTTCCCCACTTACCCACCCCCATCTCCGCTCTTATCCCCCAGGTTTGGTTCAAGAACCGGAGGGCTAAATGCAGGCAGCAGCGACAGCAGCAGAAACAGCAGCAGCAGCCCCCAGGGGGCCAGGCCAAGGCCCGGCCTGCCAAGAGGAAGGCGGGCACGTCCCCAAGACCCTCCACAGATGTGTGTCCAGACCCTCTGGGCATCTCAGATTCCTACAGTCCCCCTCTGCCCGGCCCCTCAGGCTCCCCAACCACGGCAGTGGCCACTGTGTCCATCTGGAGCCCAGCCTCAGAGTCCCCTTTGCCTGAGGCGCAGCGGGCTGGGCTGGTGGCCTCAGGGCCGTCTCTGACCTCCGCCCCCTATGCCATGACCTACGCCCCGGCCTCCGCTTTCTGCTCTTCCCCCTCCGCCTATGGGTCTCCGAGCTCCTATTTCAGCGGCCTAGACCCTACCTTTCTCCCATGGTGCCCCAGCTAGGGGGCCCGGCTCTTAGCCCCCTCTCTGGCCCCTCCGTGGGACCTTCCCTGGCCCAGTCCCCCACCTCCCTATCAGGCCAGAGCTATGGCGCCTACAGCCCCGTGGATAGCTTGGAATTCAAGGACCCCACGGGCACCTGGAAATTCACCTACAATCCCATGGACCCTCTGGACTACAAGGATCAGAGTGCCTGGAAGTTTCAGATCTTGTAGAGGACGCAGTCTCCATCTCTCTCCATCGGGCCTCGGGACCCTTTCTCTTCTGAATCTGCTTCCCTGCAGTTTAGATCCCGGGATGGCATTCCTGAGAAAGCAACCCGAACCAGCTGTCCTTCTGACAGCTCGGTGTTCAGCTTACAGAGACCACCCCTTTCCTCCACAGGGAGAGGCTCCTCCCTCTCCTGGGACAGCTCACAGGTCCTAGTGATTCTCTCAACCCTAACACCGTCTGGCACGATTGTGACCGCTGAAGTACACCACGAGCTCCAGGCTTCAGAAAGTGGTGCTGAGAACTTGCTCCAAGAAGAAGTCAAACCAAACTTGCAGTTGATTTGGGGTCATGTTTAGGTCAGAATCACCGTGCCCTTGAACAAGCAGGTAGGGGGGCTTGATAACTTAACTTTCCACGTGGACAGAATTTTTTTTTTTGTTTTGTTTTTGTTTTGCAGACACAGTCTAGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAAGCTCTACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGATGCCCACCACCAGGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTTTTTTTTTTTTTTTTTTTTAATTGAGACGGAGTCTCACTCTTTTGCTTAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGACTGCAACCTCCACCTCCCGGGTTGAAGCGTTGCTCCTGCCTCAATCTCCCAATTAGCTGGGATTACAGGTGTGCTCCATCATGCCCGGCTAATTTTTCTATTATTAGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTGGAACCCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATTGTGCCTGGCCCTACACGTGGACACTTCTTTAGCATATGGTTAGGGACCTTTCTAGAAATTCCAAAGACAGACTTTAAGAAGCCCCGTCGGGAAACCTTAGGCCAATGATGTGGTTACATTAAAAATAAATTATCTGGGAATTTCACAGACTTCACAAATGTCAGGCTTACATGGTAGGTTTAGGGGACCGTTTGAGAGACAAAGATCTACATTCATATATGTAGCTATACATATATGTACTTTTTCTTCTTAGTTTCTTTTTAAAGACATTTTATCACTCATTCGCTCATTAGCACATTGGGAATGTGTGTATTTGGTAGGGAAATGAAAGGCACCTTGCCTGTTCCATCTCTACTCCTTTTTTCTTTTGTTTTAGGATTTTCTAAAGGTGAGACACTGGTGGAACTGGGGTAGCTGCTTGGGACGTACCACCTATAGTTGTGGCTATTTCACAGAGAAGCAGCAGCTAGACAGACTCCCATCTGTAAATAAACAAGAGATAGGAAGAGGGGGAAATAGATTTGGAGGAGGCAGCCCTACATTTCAAACATACATTCCCTTTTTTAGATTTTTTTTTTTTTTTTTTTGGTTTTCAGTTTTGATGGTGGGATTGGAAAATAGAGCTTGGCTTGAGGACATTTTCCTGGGGTGGCACCATTATTTCTTGAAATAGAATCTTACTTATGGTGACACTGGCAAGCACTTGTGAGAACCTGAAGACGGATTGAGGTCATTTGATGCTCAGAAGTTGGGTGCTGGGTCCCTGCN | pathogenic | 307,143 |
Is the chromosome 19, position 47839727 variant in CRX (cone-rod homeobox) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Benign_concentric_annular_macular_dystrophy', 'Cone-rod_dystrophy_2', 'Leber_congenital_amaurosis_7'] | ATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCATGATTGGATGACTGGATGGGTTTATTTGTGTATATATGAGTGTACGCATGTATATATAATTAGATGGATAAATGAAATGTGTGTCTGCATGATTGTATGTATGGATTAATGTGTATATATGTATGATGTATGTGTGTACAATGTATGTATGTATAATTGTATGTTTGTATGATCAGATGGATGGATGAATGTGTATGATGTATATATGTATGATCAGATGGCTCCATTAATGCATGTATGATGTATGCGTGTATGATGCATGTACACTTGCATGTATGATCAGATGAGCCAGTGAATGTATGTATGATGTATATGTGTATGATGTATGTATGTATGATCAGATAGATGGGTAAACGTATGCATGATGTATGTGCGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATAGATGGGTAAATGCAGGCATGATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGATGGATGAAAATGTGTATGATGTACGTATGATCATATAGATGGGTAAATGTATGCATGATATATGTGCGTATGGTGTATATATGTATAACTGTACGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATCGATGGGTAAATGCAGGCATGATGTATGTGCGTATGGTGTATGCATGTATAATTGTACGTGTGCATGTTTGCATTAGACGGATGGGATGAATGCACATGGGTATGATGTATGCATGTGTTCATGCACACATGCAGGTATGATTGGATGGATAGATGGATGGATGGGTGAATAGACGCCCCACAGCTGGATGCAAAGTAGACAGATGTGAACCCAGCACCTCTCACCAATAAGTGTCCTCATCCCCGGGCACCCTGCGGCTCTCCTGGGCCTCTTCCCCACTTACCCACCCCCATCTCCGCTCTTATCCCCCAGGTTTGGTTCAAGAACCGGAGGGCTAAATGCAGGCAGCAGCGACAGCAGCAGAAACAGCAGCAGCAGCCCCCAGGGGGCCAGGCCAAGGCCCGGCCTGCCAAGAGGAAGGCGGGCACGTCCCCAAGACCCTCCACAGATGTGTGTCCAGACCCTCTGGGCATCTCAGATTCCTACAGTCCCCCTCTGCCCGGCCCCTCAGGCTCCCCAACCACGGCAGTGGCCACTGTGTCCATCTGGAGCCCAGCCTCAGAGTCCCCTTTGCCTGAGGCGCAGCGGGCTGGGCTGGTGGCCTCAGGGCCGTCTCTGACCTCCGCCCCCTATGCCATGACCTACGCCCCGGCCTCCGCTTTCTGCTCTTCCCCCTCCGCCTATGGGTCTCCGAGCTCCTATTTCAGCGGCCTAGACCCCTACCTTTCTCCCATGGTGCCCCAGCTAGGGGGCCCGGCTCTTAGCCCCCTCTCTGGCCCCTCCGTGGGACCTTCCCTGGCCCAGTCCCCCACCTCCCTATCAGGCCAGAGCTATGGCGCCTACAGCCCCGTGGATAGCTTGGAATTCAAGGACCCCACGGGCACCTGGAAATTCACCTACAATCCCATGGACCCTCTGGACTACAAGGATCAGAGTGCCTGGAAGTTTCAGATCTTGTAGAGGACGCAGTCTCCATCTCTCTCCATCGGGCCTCGGGACCCTTTCTCTTCTGAATCTGCTTCCCTGCAGTTTAGATCCCGGGATGGCATTCCTGAGAAAGCAACCCGAACCAGCTGTCCTTCTGACAGCTCGGTGTTCAGCTTACAGAGACCACCCCTTTCCTCCACAGGGAGAGGCTCCTCCCTCTCCTGGGACAGCTCACAGGTCCTAGTGATTCTCTCAACCCTAACACCGTCTGGCACGATTGTGACCGCTGAAGTACACCACGAGCTCCAGGCTTCAGAAAGTGGTGCTGAGAACTTGCTCCAAGAAGAAGTCAAACCAAACTTGCAGTTGATTTGGGGTCATGTTTAGGTCAGAATCACCGTGCCCTTGAACAAGCAGGTAGGGGGGCTTGATAACTTAACTTTCCACGTGGACAGAATTTTTTTTTTTGTTTTGTTTTTGTTTTGCAGACACAGTCTAGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAAGCTCTACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGATGCCCACCACCAGGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTTTTTTTTTTTTTTTTTTTTAATTGAGACGGAGTCTCACTCTTTTGCTTAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGACTGCAACCTCCACCTCCCGGGTTGAAGCGTTGCTCCTGCCTCAATCTCCCAATTAGCTGGGATTACAGGTGTGCTCCATCATGCCCGGCTAATTTTTCTATTATTAGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTGGAACCCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATTGTGCCTGGCCCTACACGTGGACACTTCTTTAGCATATGGTTAGGGACCTTTCTAGAAATTCCAAAGACAGACTTTAAGAAGCCCCGTCGGGAAACCTTAGGCCAATGATGTGGTTACATTAAAAATAAATTATCTGGGAATTTCACAGACTTCACAAATGTCAGGCTTACATGGTAGGTTTAGGGGACCGTTTGAGAGACAAAGATCTACATTCATATATGTAGCTATACATATATGTACTTTTTCTTCTTAGTTTCTTTTTAAAGACATTTTATCACTCATTCGCTCATTAGCACATTGGGAATGTGTGTATTTGGTAGGGAAATGAAAGGCACCTTGCCTGTTCCATCTCTACTCCTTTTTTCTTTTGTTTTAGGATTTTCTAAAGGTGAGACACTGGTGGAACTGGGGTAGCTGCTTGGGACGTACCACCTATAGTTGTGGCTATTTCACAGAGAAGCAGCAGCTAGACAGACTCCCATCTGTAAATAAACAAGAGATAGGAAGAGGGGGAAATAGATTTGGAGGAGGCAGCCCTACATTTCAAACATACATTCCCTTTTTTAGATTTTTTTTTTTTTTTTTTTGGTTTTCAGTTTTGATGGTGGGATTGGAAAATAGAGCTTGGCTTGAGGACATTTTCCTGGGGTGGCACCATTATTTCTTGAAATAGAATCTTACTTATGGTGACACTGGCAAGCACTTGTGAGAACCTGAAGACGGATTGAGGTCATTTGATGCTCAGAAGTTGGGTGCTGGGTCCCTGCCTTC | ATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCATGATTGGATGACTGGATGGGTTTATTTGTGTATATATGAGTGTACGCATGTATATATAATTAGATGGATAAATGAAATGTGTGTCTGCATGATTGTATGTATGGATTAATGTGTATATATGTATGATGTATGTGTGTACAATGTATGTATGTATAATTGTATGTTTGTATGATCAGATGGATGGATGAATGTGTATGATGTATATATGTATGATCAGATGGCTCCATTAATGCATGTATGATGTATGCGTGTATGATGCATGTACACTTGCATGTATGATCAGATGAGCCAGTGAATGTATGTATGATGTATATGTGTATGATGTATGTATGTATGATCAGATAGATGGGTAAACGTATGCATGATGTATGTGCGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATAGATGGGTAAATGCAGGCATGATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGATGGATGAAAATGTGTATGATGTACGTATGATCATATAGATGGGTAAATGTATGCATGATATATGTGCGTATGGTGTATATATGTATAACTGTACGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATCGATGGGTAAATGCAGGCATGATGTATGTGCGTATGGTGTATGCATGTATAATTGTACGTGTGCATGTTTGCATTAGACGGATGGGATGAATGCACATGGGTATGATGTATGCATGTGTTCATGCACACATGCAGGTATGATTGGATGGATAGATGGATGGATGGGTGAATAGACGCCCCACAGCTGGATGCAAAGTAGACAGATGTGAACCCAGCACCTCTCACCAATAAGTGTCCTCATCCCCGGGCACCCTGCGGCTCTCCTGGGCCTCTTCCCCACTTACCCACCCCCATCTCCGCTCTTATCCCCCAGGTTTGGTTCAAGAACCGGAGGGCTAAATGCAGGCAGCAGCGACAGCAGCAGAAACAGCAGCAGCAGCCCCCAGGGGGCCAGGCCAAGGCCCGGCCTGCCAAGAGGAAGGCGGGCACGTCCCCAAGACCCTCCACAGATGTGTGTCCAGACCCTCTGGGCATCTCAGATTCCTACAGTCCCCCTCTGCCCGGCCCCTCAGGCTCCCCAACCACGGCAGTGGCCACTGTGTCCATCTGGAGCCCAGCCTCAGAGTCCCCTTTGCCTGAGGCGCAGCGGGCTGGGCTGGTGGCCTCAGGGCCGTCTCTGACCTCCGCCCCCTATGCCATGACCTACGCCCCGGCCTCCGCTTTCTGCTCTTCCCCCTCCGCCTATGGGTCTCCGAGCTCCTATTTCAGCGGCCTAGACCCCACCTTTCTCCCATGGTGCCCCAGCTAGGGGGCCCGGCTCTTAGCCCCCTCTCTGGCCCCTCCGTGGGACCTTCCCTGGCCCAGTCCCCCACCTCCCTATCAGGCCAGAGCTATGGCGCCTACAGCCCCGTGGATAGCTTGGAATTCAAGGACCCCACGGGCACCTGGAAATTCACCTACAATCCCATGGACCCTCTGGACTACAAGGATCAGAGTGCCTGGAAGTTTCAGATCTTGTAGAGGACGCAGTCTCCATCTCTCTCCATCGGGCCTCGGGACCCTTTCTCTTCTGAATCTGCTTCCCTGCAGTTTAGATCCCGGGATGGCATTCCTGAGAAAGCAACCCGAACCAGCTGTCCTTCTGACAGCTCGGTGTTCAGCTTACAGAGACCACCCCTTTCCTCCACAGGGAGAGGCTCCTCCCTCTCCTGGGACAGCTCACAGGTCCTAGTGATTCTCTCAACCCTAACACCGTCTGGCACGATTGTGACCGCTGAAGTACACCACGAGCTCCAGGCTTCAGAAAGTGGTGCTGAGAACTTGCTCCAAGAAGAAGTCAAACCAAACTTGCAGTTGATTTGGGGTCATGTTTAGGTCAGAATCACCGTGCCCTTGAACAAGCAGGTAGGGGGGCTTGATAACTTAACTTTCCACGTGGACAGAATTTTTTTTTTTGTTTTGTTTTTGTTTTGCAGACACAGTCTAGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAAGCTCTACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGATGCCCACCACCAGGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTTTTTTTTTTTTTTTTTTTTAATTGAGACGGAGTCTCACTCTTTTGCTTAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGACTGCAACCTCCACCTCCCGGGTTGAAGCGTTGCTCCTGCCTCAATCTCCCAATTAGCTGGGATTACAGGTGTGCTCCATCATGCCCGGCTAATTTTTCTATTATTAGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTGGAACCCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATTGTGCCTGGCCCTACACGTGGACACTTCTTTAGCATATGGTTAGGGACCTTTCTAGAAATTCCAAAGACAGACTTTAAGAAGCCCCGTCGGGAAACCTTAGGCCAATGATGTGGTTACATTAAAAATAAATTATCTGGGAATTTCACAGACTTCACAAATGTCAGGCTTACATGGTAGGTTTAGGGGACCGTTTGAGAGACAAAGATCTACATTCATATATGTAGCTATACATATATGTACTTTTTCTTCTTAGTTTCTTTTTAAAGACATTTTATCACTCATTCGCTCATTAGCACATTGGGAATGTGTGTATTTGGTAGGGAAATGAAAGGCACCTTGCCTGTTCCATCTCTACTCCTTTTTTCTTTTGTTTTAGGATTTTCTAAAGGTGAGACACTGGTGGAACTGGGGTAGCTGCTTGGGACGTACCACCTATAGTTGTGGCTATTTCACAGAGAAGCAGCAGCTAGACAGACTCCCATCTGTAAATAAACAAGAGATAGGAAGAGGGGGAAATAGATTTGGAGGAGGCAGCCCTACATTTCAAACATACATTCCCTTTTTTAGATTTTTTTTTTTTTTTTTTTGGTTTTCAGTTTTGATGGTGGGATTGGAAAATAGAGCTTGGCTTGAGGACATTTTCCTGGGGTGGCACCATTATTTCTTGAAATAGAATCTTACTTATGGTGACACTGGCAAGCACTTGTGAGAACCTGAAGACGGATTGAGGTCATTTGATGCTCAGAAGTTGGGTGCTGGGTCCCTGCCTTCN | pathogenic | 307,144 |
The genetic variant at chromosome 19, position 47840274, affecting gene CRX (cone-rod homeobox): benign or pathogenic? Disease name(s) if pathogenic? | benign | ATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCATGATTGGATGACTGGATGGGTTTATTTGTGTATATATGAGTGTACGCATGTATATATAATTAGATGGATAAATGAAATGTGTGTCTGCATGATTGTATGTATGGATTAATGTGTATATATGTATGATGTATGTGTGTACAATGTATGTATGTATAATTGTATGTTTGTATGATCAGATGGATGGATGAATGTGTATGATGTATATATGTATGATCAGATGGCTCCATTAATGCATGTATGATGTATGCGTGTATGATGCATGTACACTTGCATGTATGATCAGATGAGCCAGTGAATGTATGTATGATGTATATGTGTATGATGTATGTATGTATGATCAGATAGATGGGTAAACGTATGCATGATGTATGTGCGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATAGATGGGTAAATGCAGGCATGATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGATGGATGAAAATGTGTATGATGTACGTATGATCATATAGATGGGTAAATGTATGCATGATATATGTGCGTATGGTGTATATATGTATAACTGTACGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATCGATGGGTAAATGCAGGCATGATGTATGTGCGTATGGTGTATGCATGTATAATTGTACGTGTGCATGTTTGCATTAGACGGATGGGATGAATGCACATGGGTATGATGTATGCATGTGTTCATGCACACATGCAGGTATGATTGGATGGATAGATGGATGGATGGGTGAATAGACGCCCCACAGCTGGATGCAAAGTAGACAGATGTGAACCCAGCACCTCTCACCAATAAGTGTCCTCATCCCCGGGCACCCTGCGGCTCTCCTGGGCCTCTTCCCCACTTACCCACCCCCATCTCCGCTCTTATCCCCCAGGTTTGGTTCAAGAACCGGAGGGCTAAATGCAGGCAGCAGCGACAGCAGCAGAAACAGCAGCAGCAGCCCCCAGGGGGCCAGGCCAAGGCCCGGCCTGCCAAGAGGAAGGCGGGCACGTCCCCAAGACCCTCCACAGATGTGTGTCCAGACCCTCTGGGCATCTCAGATTCCTACAGTCCCCCTCTGCCCGGCCCCTCAGGCTCCCCAACCACGGCAGTGGCCACTGTGTCCATCTGGAGCCCAGCCTCAGAGTCCCCTTTGCCTGAGGCGCAGCGGGCTGGGCTGGTGGCCTCAGGGCCGTCTCTGACCTCCGCCCCCTATGCCATGACCTACGCCCCGGCCTCCGCTTTCTGCTCTTCCCCCTCCGCCTATGGGTCTCCGAGCTCCTATTTCAGCGGCCTAGACCCCTACCTTTCTCCCATGGTGCCCCAGCTAGGGGGCCCGGCTCTTAGCCCCCTCTCTGGCCCCTCCGTGGGACCTTCCCTGGCCCAGTCCCCCACCTCCCTATCAGGCCAGAGCTATGGCGCCTACAGCCCCGTGGATAGCTTGGAATTCAAGGACCCCACGGGCACCTGGAAATTCACCTACAATCCCATGGACCCTCTGGACTACAAGGATCAGAGTGCCTGGAAGTTTCAGATCTTGTAGAGGACGCAGTCTCCATCTCTCTCCATCGGGCCTCGGGACCCTTTCTCTTCTGAATCTGCTTCCCTGCAGTTTAGATCCCGGGATGGCATTCCTGAGAAAGCAACCCGAACCAGCTGTCCTTCTGACAGCTCGGTGTTCAGCTTACAGAGACCACCCCTTTCCTCCACAGGGAGAGGCTCCTCCCTCTCCTGGGACAGCTCACAGGTCCTAGTGATTCTCTCAACCCTAACACCGTCTGGCACGATTGTGACCGCTGAAGTACACCACGAGCTCCAGGCTTCAGAAAGTGGTGCTGAGAACTTGCTCCAAGAAGAAGTCAAACCAAACTTGCAGTTGATTTGGGGTCATGTTTAGGTCAGAATCACCGTGCCCTTGAACAAGCAGGTAGGGGGGCTTGATAACTTAACTTTCCACGTGGACAGAATTTTTTTTTTTGTTTTGTTTTTGTTTTGCAGACACAGTCTAGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAAGCTCTACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGATGCCCACCACCAGGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTTTTTTTTTTTTTTTTTTTTAATTGAGACGGAGTCTCACTCTTTTGCTTAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGACTGCAACCTCCACCTCCCGGGTTGAAGCGTTGCTCCTGCCTCAATCTCCCAATTAGCTGGGATTACAGGTGTGCTCCATCATGCCCGGCTAATTTTTCTATTATTAGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTGGAACCCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATTGTGCCTGGCCCTACACGTGGACACTTCTTTAGCATATGGTTAGGGACCTTTCTAGAAATTCCAAAGACAGACTTTAAGAAGCCCCGTCGGGAAACCTTAGGCCAATGATGTGGTTACATTAAAAATAAATTATCTGGGAATTTCACAGACTTCACAAATGTCAGGCTTACATGGTAGGTTTAGGGGACCGTTTGAGAGACAAAGATCTACATTCATATATGTAGCTATACATATATGTACTTTTTCTTCTTAGTTTCTTTTTAAAGACATTTTATCACTCATTCGCTCATTAGCACATTGGGAATGTGTGTATTTGGTAGGGAAATGAAAGGCACCTTGCCTGTTCCATCTCTACTCCTTTTTTCTTTTGTTTTAGGATTTTCTAAAGGTGAGACACTGGTGGAACTGGGGTAGCTGCTTGGGACGTACCACCTATAGTTGTGGCTATTTCACAGAGAAGCAGCAGCTAGACAGACTCCCATCTGTAAATAAACAAGAGATAGGAAGAGGGGGAAATAGATTTGGAGGAGGCAGCCCTACATTTCAAACATACATTCCCTTTTTTAGATTTTTTTTTTTTTTTTTTTGGTTTTCAGTTTTGATGGTGGGATTGGAAAATAGAGCTTGGCTTGAGGACATTTTCCTGGGGTGGCACCATTATTTCTTGAAATAGAATCTTACTTATGGTGACACTGGCAAGCACTTGTGAGAACCTGAAGACGGATTGAGGTCATTTGATGCTCAGAAGTTGGGTGCTGGGTCCCTGCCTTCTCAGTCCGAGTTCTCCTTTCATTTTTGGGTGGGGAGGCGGGTTCCAAGAGCCCTTCATTGGTGGAGTTCACAAGGCAAGGTGTAAAAAAAAAAGTAGGGCAGGAAGACAGTGGTGTGCTGGCAGAGGTCTAACAATGGGCTCTCCAAGGAAGAGGAAAAGGTTGGTTGTGGAGTGTTTGTCAGTTTCCGTGGTGTAAATACTCCCACCACGGCTGACTTCAAGCTAGCAACCGGAGGTCACTGAACTAAGAGTTGGGAAGAGATAGGGCACAATATATGCTTACGAGTTGGTACACACCGTCAGCAGCAGCCAGGGTCAGGAGAAAGGCGAGATGTGAAGAGAGGCCGGGAGGTATCAGATGACGTTTCCAGCACTAGACCAGAAGAGGTGCACACAGCCTAGACCCCCTGAGGGGTACACCCTGATCTCTAGAGCCCACAAAGAGGTTTTTATTCAACATAAAACGTGTTCATCTCTCATAGGCCTGAGTCATGCTGGGTTCTGGGACATTAAGCCCAGGAGTGGGCCGGGTGCGGTGGCTCACGC | ATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCATGATTGGATGACTGGATGGGTTTATTTGTGTATATATGAGTGTACGCATGTATATATAATTAGATGGATAAATGAAATGTGTGTCTGCATGATTGTATGTATGGATTAATGTGTATATATGTATGATGTATGTGTGTACAATGTATGTATGTATAATTGTATGTTTGTATGATCAGATGGATGGATGAATGTGTATGATGTATATATGTATGATCAGATGGCTCCATTAATGCATGTATGATGTATGCGTGTATGATGCATGTACACTTGCATGTATGATCAGATGAGCCAGTGAATGTATGTATGATGTATATGTGTATGATGTATGTATGTATGATCAGATAGATGGGTAAACGTATGCATGATGTATGTGCGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATAGATGGGTAAATGCAGGCATGATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGATGGATGAAAATGTGTATGATGTACGTATGATCATATAGATGGGTAAATGTATGCATGATATATGTGCGTATGGTGTATATATGTATAACTGTACGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATCGATGGGTAAATGCAGGCATGATGTATGTGCGTATGGTGTATGCATGTATAATTGTACGTGTGCATGTTTGCATTAGACGGATGGGATGAATGCACATGGGTATGATGTATGCATGTGTTCATGCACACATGCAGGTATGATTGGATGGATAGATGGATGGATGGGTGAATAGACGCCCCACAGCTGGATGCAAAGTAGACAGATGTGAACCCAGCACCTCTCACCAATAAGTGTCCTCATCCCCGGGCACCCTGCGGCTCTCCTGGGCCTCTTCCCCACTTACCCACCCCCATCTCCGCTCTTATCCCCCAGGTTTGGTTCAAGAACCGGAGGGCTAAATGCAGGCAGCAGCGACAGCAGCAGAAACAGCAGCAGCAGCCCCCAGGGGGCCAGGCCAAGGCCCGGCCTGCCAAGAGGAAGGCGGGCACGTCCCCAAGACCCTCCACAGATGTGTGTCCAGACCCTCTGGGCATCTCAGATTCCTACAGTCCCCCTCTGCCCGGCCCCTCAGGCTCCCCAACCACGGCAGTGGCCACTGTGTCCATCTGGAGCCCAGCCTCAGAGTCCCCTTTGCCTGAGGCGCAGCGGGCTGGGCTGGTGGCCTCAGGGCCGTCTCTGACCTCCGCCCCCTATGCCATGACCTACGCCCCGGCCTCCGCTTTCTGCTCTTCCCCCTCCGCCTATGGGTCTCCGAGCTCCTATTTCAGCGGCCTAGACCCCTACCTTTCTCCCATGGTGCCCCAGCTAGGGGGCCCGGCTCTTAGCCCCCTCTCTGGCCCCTCCGTGGGACCTTCCCTGGCCCAGTCCCCCACCTCCCTATCAGGCCAGAGCTATGGCGCCTACAGCCCCGTGGATAGCTTGGAATTCAAGGACCCCACGGGCACCTGGAAATTCACCTACAATCCCATGGACCCTCTGGACTACAAGGATCAGAGTGCCTGGAAGTTTCAGATCTTGTAGAGGACGCAGTCTCCATCTCTCTCCATCGGGCCTCGGGACCCTTTCTCTTCTGAATCTGCTTCCCTGCAGTTTAGATCCCGGGATGGCATTCCTGAGAAAGCAACCCGAACCAGCTGTCCTTCTGACAGCTCGGTGTTCAGCTTACAGAGACCACCCCTTTCCTCCACAGGGAGAGGCTCCTCCCTCTCCTGGGACAGCTCACAGGTCCTAGTGATTCTCTCAACCCTAACACCGTCTGGCACGATTGTGACCGCTGAAGTACACCACGAGCTCCAGGCTTCAGAAAGTGGTGCTGAGAACTTGCTCCAAGAAGTCAAACCAAACTTGCAGTTGATTTGGGGTCATGTTTAGGTCAGAATCACCGTGCCCTTGAACAAGCAGGTAGGGGGGCTTGATAACTTAACTTTCCACGTGGACAGAATTTTTTTTTTTGTTTTGTTTTTGTTTTGCAGACACAGTCTAGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAAGCTCTACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGATGCCCACCACCAGGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTTTTTTTTTTTTTTTTTTTTAATTGAGACGGAGTCTCACTCTTTTGCTTAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGACTGCAACCTCCACCTCCCGGGTTGAAGCGTTGCTCCTGCCTCAATCTCCCAATTAGCTGGGATTACAGGTGTGCTCCATCATGCCCGGCTAATTTTTCTATTATTAGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTGGAACCCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATTGTGCCTGGCCCTACACGTGGACACTTCTTTAGCATATGGTTAGGGACCTTTCTAGAAATTCCAAAGACAGACTTTAAGAAGCCCCGTCGGGAAACCTTAGGCCAATGATGTGGTTACATTAAAAATAAATTATCTGGGAATTTCACAGACTTCACAAATGTCAGGCTTACATGGTAGGTTTAGGGGACCGTTTGAGAGACAAAGATCTACATTCATATATGTAGCTATACATATATGTACTTTTTCTTCTTAGTTTCTTTTTAAAGACATTTTATCACTCATTCGCTCATTAGCACATTGGGAATGTGTGTATTTGGTAGGGAAATGAAAGGCACCTTGCCTGTTCCATCTCTACTCCTTTTTTCTTTTGTTTTAGGATTTTCTAAAGGTGAGACACTGGTGGAACTGGGGTAGCTGCTTGGGACGTACCACCTATAGTTGTGGCTATTTCACAGAGAAGCAGCAGCTAGACAGACTCCCATCTGTAAATAAACAAGAGATAGGAAGAGGGGGAAATAGATTTGGAGGAGGCAGCCCTACATTTCAAACATACATTCCCTTTTTTAGATTTTTTTTTTTTTTTTTTTGGTTTTCAGTTTTGATGGTGGGATTGGAAAATAGAGCTTGGCTTGAGGACATTTTCCTGGGGTGGCACCATTATTTCTTGAAATAGAATCTTACTTATGGTGACACTGGCAAGCACTTGTGAGAACCTGAAGACGGATTGAGGTCATTTGATGCTCAGAAGTTGGGTGCTGGGTCCCTGCCTTCTCAGTCCGAGTTCTCCTTTCATTTTTGGGTGGGGAGGCGGGTTCCAAGAGCCCTTCATTGGTGGAGTTCACAAGGCAAGGTGTAAAAAAAAAAGTAGGGCAGGAAGACAGTGGTGTGCTGGCAGAGGTCTAACAATGGGCTCTCCAAGGAAGAGGAAAAGGTTGGTTGTGGAGTGTTTGTCAGTTTCCGTGGTGTAAATACTCCCACCACGGCTGACTTCAAGCTAGCAACCGGAGGTCACTGAACTAAGAGTTGGGAAGAGATAGGGCACAATATATGCTTACGAGTTGGTACACACCGTCAGCAGCAGCCAGGGTCAGGAGAAAGGCGAGATGTGAAGAGAGGCCGGGAGGTATCAGATGACGTTTCCAGCACTAGACCAGAAGAGGTGCACACAGCCTAGACCCCCTGAGGGGTACACCCTGATCTCTAGAGCCCACAAAGAGGTTTTTATTCAACATAAAACGTGTTCATCTCTCATAGGCCTGAGTCATGCTGGGTTCTGGGACATTAAGCCCAGGAGTGGGCCGGGTGCGGTGGCTCACGCNNN | benign | 307,150 |
Evaluate this variant at chromosome 19, position 48156986, gene LIG1 (DNA ligase 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | CCACACCACATACTCCACCTTCTTTTATATCACTGCTAAACTGGGGTGTTTCCAGACACACCAAGCTGTGTCACCCCTCCAGGCCTCAGCATGTGAGGTTTGGGACATAGCTCAATGTTGCTCCCTCTGAACAAGATCCCCTGACACACCCCCAGGGCCAACCTCAGCGTCCACCTGGAGCTCCCAGCATGCCCTCAGCCACACTGTGACTTCCTTATGGCCACCTTTCATTCAGGGATGAACCTGCCTCCCCACCTCACAGCCCTTCCATGGCTCCCAGGACCCACAGCACGAAGCCCAGGCTCCTTAGCTGGGAGTGCAAGACCTTTTGAGATCCAGCCCCCACTCTCCTCTCTAGCTCACCTCTCACCACGTGCTATCCTCAAACTCTCCCTGCTTCCCAGGTCGCATCCGATTCTCCAGAAACAAGGAAGTAGATGAGAGGCCCCAAACATCCCATGCTGTTCCCATCTCGAGGCCTCTGCACGTGCCCTTCTTGTCTGAAATGCATGCATCTGTCCTTTCTCAACATGGCCAACCCCAACCCATCTTCTAAGACTCGGCTCAGCCATCACCTCCCCTGGGCTGCTTGACTTCTGAGCTCCCAGAGTACCCTGCGTCACCCAGCATCGTCCGATGGAAAGATCTGGCAAGCCACGTATGTAACCTTAAACTTTCTTGCAGCCACGTTAATAAAAAGGGGGAAAAAACCAGGTTGAACTTGGTTTGAAGAGTCTATTTTGCTCAATACATCTAAAACAGTATGATTCCAACATTCTGTTTTCATGCTAGGTCTTCAAAATCCAATGAACTCACTGCACATCTCAAGTTGGACACCAGATTTTCATCGGCAACATGATCTGTGTAGGTTTCATAAAATGTACAGCTATTCACATACCAAAGCTGTTCCAAAATGATGTGGAAAAAGTGCAAAGTCTTTACGCACTGAATCACATATTAGCTTTCAAATGTAAATTCAACTGAAAGGATCTAACATGAAAGATTCAGCTCCCCTGTCACACTCACCACGCTAAAGCGCTCAATAGGCTAGACCGGACGGCAAGGGCTCACACTGCCCCGCATTACGAATGGGTCTCTCGCCCTGTTCTTACCCCACAGCAAACATTCCAAGTCCCCCTTAGGACAAAGACGCTGTTCCCCAAGCTGGTTTTCCAGGACCTTCTCACCTCATTGCTCACCATCCCCAATCCTGCGCTCTACACGCCAGCACACCAGGCCCTCAGCAGCCCCCAGGCCTTCTCAATTTCTATGTTCCCCTTGCCTAGCATGCTCCCCTCCTCCTTTGCTTGTTGCCTCTTCTTTGTCCTAAAGGGCTCAGCTTGGTTAGCCTCTCTTCTGGAAGTCTCCCTTGAGCCATGGCCCCGCGCTTGTGTTCCCACATGAGCTGTGAGGCCTCCATCTCAGCGCATAACTACAGTCACAATGACCCACAATGACTGAGCCCCGACTGAGGGCTGGGCCCAGTTCTGAGCAGCGTACACGTGTTATCTTCTAACTCAGATATTTCTGTGCGGTAGGTGCTATCATTATCATCATCTCTACAGATAAAGCAACCTAAGCTCAGAGAAGGTCAGTCATTTGTCCCAGGTCATACAGCCAGTGGATGGTGGACCCGTGCTCTTAACCACAACACTAAGACCAGAGCTGTTGTAAGGATGACTACCTTGGATGGGAATCCAAGTGGGGAGAAAGGCAGGCGACTGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGAATCGTTTGAACCCGGGAGGCGGAGGTCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTAGGCAACAGAGCGAGACTATGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAGAAAAAGAAAGGCAGGCGACTGAAGGGGCAGGGGCCCGTGTGTTCTCACCTGTGCGACGCTTCGGAATCCCTGATGGGGAACTGTCCATGGGAGAGGTGTCAGAGAGGGAAGCATTGTTCTCAGGAGATGTGGCAGGACGGGGCGGGGAGACCTGTGAGCAGTCCAGGGCAGGCTTCTGGAAGAGGAAAGAACAGTTCTAGAGTGAGCGGGGGAAGGAGGGACTCCATTTTCCAAAAGTTGAGAGTAGAGGGGACTGAAACCTCTCTGTCTACCCTCCTTTCTGACCCTATGGTCTCAGCCCTAACTCAGGGGTGGCCTCTTCTCACCTGGGCCATCATCCCGCCCTCCAGTGCAGGATCATGGTCCCATCAAGGACCCCCATAGCTCTTCTGTTTTCTACAGTAACAGAATCTTCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACAGGCCTGCACTACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGCTCTACACAATGGGATGTCAGGGGAAATGATGTACACCTCTTCGTATAGTTTTATTTTTATTTATTTATTTATTGAGACAGGGTGTCATTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGCAACTGGGATAACAGGCGCCCGCCACCACGCCCAGCTAATTTTTGTATTTTTTTTATAGAGATGGGGCTTCACCACGTTGGCCAGGCTGGTCTCGAACTCCTGAGCTCAAGCGATCCTCCCGCCTTGGCCTCCAGAGCACTGAGAATACAGGCGTGAGCCCCCGTGCCCAGCCTTCTCTCCATACAGTTTAGATGTTTGTTCCCTCCAGATCGCATGTTGCAATTTGGTCTCCAATGTTGGAGGTATGACCTGGCGGGAGGCATTCAGGTCACGTGGGCAGATCCCTCATGAATGGCTTGTACCCTCCTTGTGGTAGGAACCGAGTTCTTCCTCTCCTGGTTCACATGAGAGCTGGTTGTTTAAAATTCCTCTCTTGCCATGTGACACACCTGCTCCTCCTTCACCTTCCACCATGACTGGAAGCATCCTGAGGCTCTCACCAGAAGCAGATGCTGGCACTATACTTCTTGTATAGCCTGCAGGACCGTGGGCCAAAATAAACCTCTTTTCTTTATAAATTAACTGGTCTGAAGTATTCCTTTATAGCAATGCAAAATGGACTAACATGCATTTCCTGGTTCAAATAACATCCACTTAATGTTGAGTGGGGTGCCCTCCTCTTCCTGTTGGCAGAATATGGATGTTCACAGGGACAAGGGCATCTACAGAGAGCAAACGACAGCACAGAGGAAGCCTGGGCCTCTGACCCTGTGAGACGGTCACATGAATCCCGGACTCTGCACTCAGGAGAGAGAAAAATAAGTTTGCGTCTTGCCTAAGCCACTGCTACCGTGTCTCGGTTTCAACCACTCACTTATCTTCTTACAGGGCCCTGTGCCAGTTATTAAGTGATTTTCTCTCAGCTCCAAACCTGTCACTGTCCAGTCTCCTTCATGCTGCCAGGACCGGGACTCCACAAATCTTCTTCTTGCTCTGGCGCCACCTGGGCATCAGGCAGTGCCAATGGAGGGAAGCAGAGGGCACTGCATGACTGGAGGCACAGCCGGCTTGCCGGGGGCAGCTGCTGGATCCCACTGACAGTTTTTTCTAACATTCACGGGGCTTGCCACGTGGTACCTGATCAGAGACCCTGGCATCTCCCACCCAGTGCTCCCTTCCTGAAAGATCAGAGTTGCAGGCTCTCGGGGCACCTTCTCTAAGCTCAGAGACCTGCCAGCAGTCCCACCACAGAGGTGTGAATTTCAGCTCAAAAGCCACAGGGATGGTCACTGCACCCCACAGTTGCTACCTCCATGATGCCTTAGAGTTAGTTCTCTTTTTAGCCCTTCAGTTACCTATTTAACAACTGCATACCTAGTGACCATCCTTTAAACTCCCTCTGTTCAAATCACTGGTATGG | CCACACCACATACTCCACCTTCTTTTATATCACTGCTAAACTGGGGTGTTTCCAGACACACCAAGCTGTGTCACCCCTCCAGGCCTCAGCATGTGAGGTTTGGGACATAGCTCAATGTTGCTCCCTCTGAACAAGATCCCCTGACACACCCCCAGGGCCAACCTCAGCGTCCACCTGGAGCTCCCAGCATGCCCTCAGCCACACTGTGACTTCCTTATGGCCACCTTTCATTCAGGGATGAACCTGCCTCCCCACCTCACAGCCCTTCCATGGCTCCCAGGACCCACAGCACGAAGCCCAGGCTCCTTAGCTGGGAGTGCAAGACCTTTTGAGATCCAGCCCCCACTCTCCTCTCTAGCTCACCTCTCACCACGTGCTATCCTCAAACTCTCCCTGCTTCCCAGGTCGCATCCGATTCTCCAGAAACAAGGAAGTAGATGAGAGGCCCCAAACATCCCATGCTGTTCCCATCTCGAGGCCTCTGCACGTGCCCTTCTTGTCTGAAATGCATGCATCTGTCCTTTCTCAACATGGCCAACCCCAACCCATCTTCTAAGACTCGGCTCAGCCATCACCTCCCCTGGGCTGCTTGACTTCTGAGCTCCCAGAGTACCCTGCGTCACCCAGCATCGTCCGATGGAAAGATCTGGCAAGCCACGTATGTAACCTTAAACTTTCTTGCAGCCACGTTAATAAAAAGGGGGAAAAAACCAGGTTGAACTTGGTTTGAAGAGTCTATTTTGCTCAATACATCTAAAACAGTATGATTCCAACATTCTGTTTTCATGCTAGGTCTTCAAAATCCAATGAACTCACTGCACATCTCAAGTTGGACACCAGATTTTCATCGGCAACATGATCTGTGTAGGTTTCATAAAATGTACAGCTATTCACATACCAAAGCTGTTCCAAAATGATGTGGAAAAAGTGCAAAGTCTTTACGCACTGAATCACATATTAGCTTTCAAATGTAAATTCAACTGAAAGGATCTAACATGAAAGATTCAGCTCCCCTGTCACACTCACCACGCTAAAGCGCTCAATAGGCTAGACCGGACGGCAAGGGCTCACACTGCCCCGCATTACGAATGGGTCTCTCGCCCTGTTCTTACCCCACAGCAAACATTCCAAGTCCCCCTTAGGACAAAGACGCTGTTCCCCAAGCTGGTTTTCCAGGACCTTCTCACCTCATTGCTCACCATCCCCAATCCTGCGCTCTACACGCCAGCACACCAGGCCCTCAGCAGCCCCCAGGCCTTCTCAATTTCTATGTTCCCCTTGCCTAGCATGCTCCCCTCCTCCTTTGCTTGTTGCCTCTTCTTTGTCCTAAAGGGCTCAGCTTGGTTAGCCTCTCTTCTGGAAGTCTCCCTTGAGCCATGGCCCCGCGCTTGTGTTCCCACATGAGCTGTGAGGCCTCCATCTCAGCGCATAACTACAGTCACAATGACCCACAATGACTGAGCCCCGACTGAGGGCTGGGCCCAGTTCTGAGCAGCGTACACGTGTTATCTTCTAACTCAGATATTTCTGTGCGGTAGGTGCTATCATTATCATCATCTCTACAGATAAAGCAACCTAAGCTCAGAGAAGGTCAGTCATTTGTCCCAGGTCATACAGCCAGTGGATGGTGGACCCGTGCTCTTAACCACAACACTAAGACCAGAGCTGTTGTAAGGATGACTACCTTGGATGGGAATCCAAGTGGGGAGAAAGGCAGGCGACTGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGAATCGTTTGAACCCGGGAGGCGGAGGTCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTAGGCAACAGAGCGAGACTATGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAGAAAAAGAAAGGCAGGCGACTGGGGGCCCGTGTGTTCTCACCTGTGCGACGCTTCGGAATCCCTGATGGGGAACTGTCCATGGGAGAGGTGTCAGAGAGGGAAGCATTGTTCTCAGGAGATGTGGCAGGACGGGGCGGGGAGACCTGTGAGCAGTCCAGGGCAGGCTTCTGGAAGAGGAAAGAACAGTTCTAGAGTGAGCGGGGGAAGGAGGGACTCCATTTTCCAAAAGTTGAGAGTAGAGGGGACTGAAACCTCTCTGTCTACCCTCCTTTCTGACCCTATGGTCTCAGCCCTAACTCAGGGGTGGCCTCTTCTCACCTGGGCCATCATCCCGCCCTCCAGTGCAGGATCATGGTCCCATCAAGGACCCCCATAGCTCTTCTGTTTTCTACAGTAACAGAATCTTCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACAGGCCTGCACTACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGCTCTACACAATGGGATGTCAGGGGAAATGATGTACACCTCTTCGTATAGTTTTATTTTTATTTATTTATTTATTGAGACAGGGTGTCATTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGCAACTGGGATAACAGGCGCCCGCCACCACGCCCAGCTAATTTTTGTATTTTTTTTATAGAGATGGGGCTTCACCACGTTGGCCAGGCTGGTCTCGAACTCCTGAGCTCAAGCGATCCTCCCGCCTTGGCCTCCAGAGCACTGAGAATACAGGCGTGAGCCCCCGTGCCCAGCCTTCTCTCCATACAGTTTAGATGTTTGTTCCCTCCAGATCGCATGTTGCAATTTGGTCTCCAATGTTGGAGGTATGACCTGGCGGGAGGCATTCAGGTCACGTGGGCAGATCCCTCATGAATGGCTTGTACCCTCCTTGTGGTAGGAACCGAGTTCTTCCTCTCCTGGTTCACATGAGAGCTGGTTGTTTAAAATTCCTCTCTTGCCATGTGACACACCTGCTCCTCCTTCACCTTCCACCATGACTGGAAGCATCCTGAGGCTCTCACCAGAAGCAGATGCTGGCACTATACTTCTTGTATAGCCTGCAGGACCGTGGGCCAAAATAAACCTCTTTTCTTTATAAATTAACTGGTCTGAAGTATTCCTTTATAGCAATGCAAAATGGACTAACATGCATTTCCTGGTTCAAATAACATCCACTTAATGTTGAGTGGGGTGCCCTCCTCTTCCTGTTGGCAGAATATGGATGTTCACAGGGACAAGGGCATCTACAGAGAGCAAACGACAGCACAGAGGAAGCCTGGGCCTCTGACCCTGTGAGACGGTCACATGAATCCCGGACTCTGCACTCAGGAGAGAGAAAAATAAGTTTGCGTCTTGCCTAAGCCACTGCTACCGTGTCTCGGTTTCAACCACTCACTTATCTTCTTACAGGGCCCTGTGCCAGTTATTAAGTGATTTTCTCTCAGCTCCAAACCTGTCACTGTCCAGTCTCCTTCATGCTGCCAGGACCGGGACTCCACAAATCTTCTTCTTGCTCTGGCGCCACCTGGGCATCAGGCAGTGCCAATGGAGGGAAGCAGAGGGCACTGCATGACTGGAGGCACAGCCGGCTTGCCGGGGGCAGCTGCTGGATCCCACTGACAGTTTTTTCTAACATTCACGGGGCTTGCCACGTGGTACCTGATCAGAGACCCTGGCATCTCCCACCCAGTGCTCCCTTCCTGAAAGATCAGAGTTGCAGGCTCTCGGGGCACCTTCTCTAAGCTCAGAGACCTGCCAGCAGTCCCACCACAGAGGTGTGAATTTCAGCTCAAAAGCCACAGGGATGGTCACTGCACCCCACAGTTGCTACCTCCATGATGCCTTAGAGTTAGTTCTCTTTTTAGCCCTTCAGTTACCTATTTAACAACTGCATACCTAGTGACCATCCTTTAAACTCCCTCTGTTCAAATCACTGGTATGGNNNNNNNN | benign | 307,218 |
Regarding the variant at chromosome 19 and position 48231760, affecting gene CARD8 (caspase recruitment domain family member 8): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | ATGAGCCTTTAATAAGTGCATTAGAGGGAGATGCTACTGAACAGGAGGAGGGTTACTCCAGAGATGTGAGTGTGCCTGTCAGTGTAATTCACATATTATCCATTTAAAATTTGGTGAGAGGCCAGGGGTGGTGGCTCACGCCTGTAATCCCAACACTTCGGGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAAACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTACAAATACAAAAATTAGCCAGGCATAGTGGCGGGCACCTGCAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGAGAAGTGGATGTTGCAGTGAGCCAAGATTGCGCCAGTTCACTCCAGCCTGGGTGACAGAGTAAGACTCTGTCTCTAAAAAAAGAAAAAAACAACCTGGTGAAAAAATCTCTGCATCTTCTCTGTCAGCTGGTCCCCCAAAATCACTAACTTTCTCCTTCTTGAGAGCCAGAAAAGGGAATTTCCTTTTTCAGTAGCACTGAATCACTACTGAAGATGGTTAGGGAAGCACATAGCTCCAGAGTCAGCACCTTGGATGAACCTCAGGAAGGGTGACTCCTGCTTCTGTCCATGAAAACCATGCCTTGCCCTTTCTGTTCCACGAGGAACTGGAGGGGCCAAGGGGATAACCTGGAAATATAATCGTCATCTTCTCTGGTCTCCTAAATCACTCAGCTTACCTTTGTTAGCAAGGCGTCGCTGGGGACAAGGTACAAGTGGAACTTAATATCTTCGGGGTGGGGGTGATAATAGATCAATGTGTTGGAAGTGATGGGGATGGAGAGGCGAGTCCCACTGGCGATCCGCAGCAGGATGCCCATCAGAGAGAAGCTGGGGCTTTCCAGGACAGCATAGAAAGGCTCCACCCGGGCTGGATGCTCCAGGACCATCCCTTCATTCTTAAAATGGGCAACGAGAAACCAGGAGACGTCCACCTCACCTGCTGCAGGAGAACCACAACAGCAGTGAGACGGCACGCACCCCAGCGGCCCCCACAGCCTCCGCTCACCCCACATTACCTTGGAGGGAGATGAAGTGGGGGAGGTGGATTTCGGCGACAGCCTCCTCTGGCTCTGCAGTGACATCAAACAAGGGGCCGCCCACCAGCCACTGTTCATGGTGCTGCAGGTCCAGGGCCAGGTGCTGACTCCAGGAACCAAACGCAATCGTCACTGTGACCTCATCCCTTACCAGGAAGCCGAGGCCTGTGGCTGACCACAGATACCAGCCAGCAGTGGGGAACCAAACGCTGAAAGGAGCCAGAGTGATGTCATGACGGGAGAACCCCAGGACTTGGATTTAAGCAGCGATGTGCAGAGGGAGGTGGGATTTGAAGTGAGGCAAGGTTCAGGACCCATCTGCGACTTTCACTACATTAGAAAACGCTGGGGAGTTCATTAACCTCTCTGGGCCCCAATTTCTCTGCATTCTATATATGTTGAAATTAAAATACCAACTTCACAGTGCATGAAATAAACATATTATTGATGAAATTTTAGCTATCATAAGGGATGGAACCGATACGCTTCCTTTTGTATTTATATTTTTATTTATTTATTTATTTTGAGACAAAGTCTCGCTCTGTCTCCTAGGCTGCAGTGCAGTGGCGAGATCTCATCTCACTGCAACCTCTGCCCCCTGGGTTCAAGAGATTCTCCTTTCTCAGCCTCCTGATTAGCTGGGACTACACGCGGGTGCCACCACGCCTGACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGTCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCCGCCCTCCTCCACCTCCCAAAGTGCCGAGATTACAGGCCTGAGCCACCACGCCTGGCCTACACACTTCCTTTATATCAGAGTGGTTTTCAAATCATCAGCATCTTCCATTCTTACCTGTATCTGTTTGTGCTCTTATCAATCAACTCAACATCCACATTTCCTTCAGGCCCCAGAAACTGACGATTTTTATAATCTTCTTCGATCTCAAAACAGACTTTAGAAGCATAAGAGGAAACTATTTGATTCTCTTCTGAGCAAATGTCTCCTGAAAAGAAAATACTAGACATGTAAGAGGTAAAGGGTTGGAAGAGGCATGGCCTGAAGGACTCCTGGAGGCTGAATTGCACAGGTGCTGTTGGGATACAGATATCGAATGAGAGCTGAGAGTGACCAGAATATGCAGTTTCGCTTCTTTGAATCCAGACAAAGAAAGGCACAAGAATGTTCCTTGTCATGACTAAACGTATACACCAAATTCCATAAGACTTTCTGGGAAGCCAGGCTGGACAGCTTTGGTGGGAGGCACCATTTGCTGAGGACTGGAACCAATGCACCTACATTTCTACTGGTCCGAAATAGCAGAAGACACTTTCTGCTGGTGAGGAAAGTCCAGGTCAGAAAAGTATCGAACTCCAAAGATGCAGAGGCGAAAGAGCGTGCATCCTTCCTAGGCCCTGCTGCTGTCCCCAGCCACCAGGACCACCCACTGACTCCCCTGAGCATTTCCATGCCCCAGCAGTGACAGGCTTACATGTCCCCATTTAAACTGCACAGTGCACTGTGGCAAAGGTAAGGGAAAGCACTCCTGATCTGCACAAAAGACTCTAAATTGTCTTCTTCACATAAAATCACAGAACATTTCCATCAATCCACACGCCCTTCACTCCTCTCCCTATTAGCCCATTACCTGAATCTTGTCCCTCTGAAGATTCCTGCTCTTCTGATACACTGGAGGTTGGGATCCCCATGTTACAAAAAGATGAAAAACATCAAGAATCAGTTGATGAAGATGAAGACGATGTTATTGAAAACTAGAGCTGCACTGTCCCGTAGAGTAGCCGCTACCCGGATATGCTATTTAAATTTGTATGAATTAAACTTAGGTAAACTTTAGTTTCTCAGTTGCACTATCCATATTTCAAGTGCTCAACAGCTACATATCACTCACGGCTATAACACTGTGTAGCAGAGAATGGAACACTCCCGTCATCACAGAAAGTTCTCTTAGACTGGGCGGATCTAGACTATCAAGAAATAGAAGACATTTTGAATGAAGATATTTTTATCCACATTTATAAATAATAGAGATAACACACTCCCTTGAGCCAAATGTGTCTTGACATCTCTCCTTCTTCTCTTTGTATTATGCCCACGTTCAATGTGGACACAGCCAGATTCTCTGGCTTAAATTGATTGCTCCGATTGGTATCATACGATGTCGGAATCAAAGACTGAAGCAGTAATTCACCAATGCGTAAAATGTATGCATTTATATTCCAAGGTAATTCCAAACTTGACCACACCTGGGAAGCTTTAAAAACCACCCAATACCAGGTCACAGCCCACATCAATTGAATCAGAAGTCTGGAGGTGGCACCAAAGCATCGGCGCTTTCAAAGCCTCACAGGTGATTCCAATATTAGCCAATATGGGTTCTATGACATACAGCGTGAGCCAATGGTTCGTCATGCCTCTGGAGAGAAACCTGCCCTAACACAGGTGATACCTTCTGGAGCAAGGCAACCAACTCCATCAAATTCTCTGCCTTTGATCCATTCCTTGAGATATCTGTTTATTTCGACGTGAAAGAGACCAGCAGAGAAACTGACACGTGGATTAGGTTTAAAAAGAACAGGTACCTAGAGAAGTGGGATGAAGAGAAAGGCTTTACAGCGCTTTTCTCGGAAGGATTCTGTGGGCAAGCCAAGCATGGAGAGACCCCTGGGCTGACATCCTAAGACTGGTTGCTGTCTGCGGCTACACATTTTGCTATGGATTCGGGTAGCTACAGGCAAAGCAGCAAGAGTAAACATGCCATTTTATATTCTCTTTCCTGGTGCATGTGCATGCTGGAGTCTGCCTGCTGAGGAGGGGTTTAGAAAGTGGGAGGAACCCAGCGCTGAACTGCAGACAGCGCATCCCAGATCATGAGAGCTGACGGTTCCATTTTCAGGGCTTTTGCAACCAAGTTGTTCAACACAACCATTAGTCTAAATTAAATGATACAAGCTAACATTTAAATAAATCATATTAAAAACAAAA | ATGAGCCTTTAATAAGTGCATTAGAGGGAGATGCTACTGAACAGGAGGAGGGTTACTCCAGAGATGTGAGTGTGCCTGTCAGTGTAATTCACATATTATCCATTTAAAATTTGGTGAGAGGCCAGGGGTGGTGGCTCACGCCTGTAATCCCAACACTTCGGGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAAACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTACAAATACAAAAATTAGCCAGGCATAGTGGCGGGCACCTGCAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGAGAAGTGGATGTTGCAGTGAGCCAAGATTGCGCCAGTTCACTCCAGCCTGGGTGACAGAGTAAGACTCTGTCTCTAAAAAAAGAAAAAAACAACCTGGTGAAAAAATCTCTGCATCTTCTCTGTCAGCTGGTCCCCCAAAATCACTAACTTTCTCCTTCTTGAGAGCCAGAAAAGGGAATTTCCTTTTTCAGTAGCACTGAATCACTACTGAAGATGGTTAGGGAAGCACATAGCTCCAGAGTCAGCACCTTGGATGAACCTCAGGAAGGGTGACTCCTGCTTCTGTCCATGAAAACCATGCCTTGCCCTTTCTGTTCCACGAGGAACTGGAGGGGCCAAGGGGATAACCTGGAAATATAATCGTCATCTTCTCTGGTCTCCTAAATCACTCAGCTTACCTTTGTTAGCAAGGCGTCGCTGGGGACAAGGTACAAGTGGAACTTAATATCTTCGGGGTGGGGGTGATAATAGATCAATGTGTTGGAAGTGATGGGGATGGAGAGGCGAGTCCCACTGGCGATCCGCAGCAGGATGCCCATCAGAGAGAAGCTGGGGCTTTCCAGGACAGCATAGAAAGGCTCCACCCGGGCTGGATGCTCCAGGACCATCCCTTCATTCTTAAAATGGGCAACGAGAAACCAGGAGACGTCCACCTCACCTGCTGCAGGAGAACCACAACAGCAGTGAGACGGCACGCACCCCAGCGGCCCCCACAGCCTCCGCTCACCCCACATTACCTTGGAGGGAGATGAAGTGGGGGAGGTGGATTTCGGCGACAGCCTCCTCTGGCTCTGCAGTGACATCAAACAAGGGGCCGCCCACCAGCCACTGTTCATGGTGCTGCAGGTCCAGGGCCAGGTGCTGACTCCAGGAACCAAACGCAATCGTCACTGTGACCTCATCCCTTACCAGGAAGCCGAGGCCTGTGGCTGACCACAGATACCAGCCAGCAGTGGGGAACCAAACGCTGAAAGGAGCCAGAGTGATGTCATGACGGGAGAACCCCAGGACTTGGATTTAAGCAGCGATGTGCAGAGGGAGGTGGGATTTGAAGTGAGGCAAGGTTCAGGACCCATCTGCGACTTTCACTACATTAGAAAACGCTGGGGAGTTCATTAACCTCTCTGGGCCCCAATTTCTCTGCATTCTATATATGTTGAAATTAAAATACCAACTTCACAGTGCATGAAATAAACATATTATTGATGAAATTTTAGCTATCATAAGGGATGGAACCGATACGCTTCCTTTTGTATTTATATTTTTATTTATTTATTTATTTTGAGACAAAGTCTCGCTCTGTCTCCTAGGCTGCAGTGCAGTGGCGAGATCTCATCTCACTGCAACCTCTGCCCCCTGGGTTCAAGAGATTCTCCTTTCTCAGCCTCCTGATTAGCTGGGACTACACGCGGGTGCCACCACGCCTGACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGTCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCCGCCCTCCTCCACCTCCCAAAGTGCCGAGATTACAGGCCTGAGCCACCACGCCTGGCCTACACACTTCCTTTATATCAGAGTGGTTTTCAAATCATCAGCATCTTCCATTCTTACCTGTATCTGTTTGTGCTCTTATCAATCAACTCAACATCCACATTTCCTTCAGGCCCCAGAAACTGACGATTTTTATAATCTTCTTCGATCTCAAAACAGACTTTTTAGAAGCATAAGAGGAAACTATTTGATTCTCTTCTGAGCAAATGTCTCCTGAAAAGAAAATACTAGACATGTAAGAGGTAAAGGGTTGGAAGAGGCATGGCCTGAAGGACTCCTGGAGGCTGAATTGCACAGGTGCTGTTGGGATACAGATATCGAATGAGAGCTGAGAGTGACCAGAATATGCAGTTTCGCTTCTTTGAATCCAGACAAAGAAAGGCACAAGAATGTTCCTTGTCATGACTAAACGTATACACCAAATTCCATAAGACTTTCTGGGAAGCCAGGCTGGACAGCTTTGGTGGGAGGCACCATTTGCTGAGGACTGGAACCAATGCACCTACATTTCTACTGGTCCGAAATAGCAGAAGACACTTTCTGCTGGTGAGGAAAGTCCAGGTCAGAAAAGTATCGAACTCCAAAGATGCAGAGGCGAAAGAGCGTGCATCCTTCCTAGGCCCTGCTGCTGTCCCCAGCCACCAGGACCACCCACTGACTCCCCTGAGCATTTCCATGCCCCAGCAGTGACAGGCTTACATGTCCCCATTTAAACTGCACAGTGCACTGTGGCAAAGGTAAGGGAAAGCACTCCTGATCTGCACAAAAGACTCTAAATTGTCTTCTTCACATAAAATCACAGAACATTTCCATCAATCCACACGCCCTTCACTCCTCTCCCTATTAGCCCATTACCTGAATCTTGTCCCTCTGAAGATTCCTGCTCTTCTGATACACTGGAGGTTGGGATCCCCATGTTACAAAAAGATGAAAAACATCAAGAATCAGTTGATGAAGATGAAGACGATGTTATTGAAAACTAGAGCTGCACTGTCCCGTAGAGTAGCCGCTACCCGGATATGCTATTTAAATTTGTATGAATTAAACTTAGGTAAACTTTAGTTTCTCAGTTGCACTATCCATATTTCAAGTGCTCAACAGCTACATATCACTCACGGCTATAACACTGTGTAGCAGAGAATGGAACACTCCCGTCATCACAGAAAGTTCTCTTAGACTGGGCGGATCTAGACTATCAAGAAATAGAAGACATTTTGAATGAAGATATTTTTATCCACATTTATAAATAATAGAGATAACACACTCCCTTGAGCCAAATGTGTCTTGACATCTCTCCTTCTTCTCTTTGTATTATGCCCACGTTCAATGTGGACACAGCCAGATTCTCTGGCTTAAATTGATTGCTCCGATTGGTATCATACGATGTCGGAATCAAAGACTGAAGCAGTAATTCACCAATGCGTAAAATGTATGCATTTATATTCCAAGGTAATTCCAAACTTGACCACACCTGGGAAGCTTTAAAAACCACCCAATACCAGGTCACAGCCCACATCAATTGAATCAGAAGTCTGGAGGTGGCACCAAAGCATCGGCGCTTTCAAAGCCTCACAGGTGATTCCAATATTAGCCAATATGGGTTCTATGACATACAGCGTGAGCCAATGGTTCGTCATGCCTCTGGAGAGAAACCTGCCCTAACACAGGTGATACCTTCTGGAGCAAGGCAACCAACTCCATCAAATTCTCTGCCTTTGATCCATTCCTTGAGATATCTGTTTATTTCGACGTGAAAGAGACCAGCAGAGAAACTGACACGTGGATTAGGTTTAAAAAGAACAGGTACCTAGAGAAGTGGGATGAAGAGAAAGGCTTTACAGCGCTTTTCTCGGAAGGATTCTGTGGGCAAGCCAAGCATGGAGAGACCCCTGGGCTGACATCCTAAGACTGGTTGCTGTCTGCGGCTACACATTTTGCTATGGATTCGGGTAGCTACAGGCAAAGCAGCAAGAGTAAACATGCCATTTTATATTCTCTTTCCTGGTGCATGTGCATGCTGGAGTCTGCCTGCTGAGGAGGGGTTTAGAAAGTGGGAGGAACCCAGCGCTGAACTGCAGACAGCGCATCCCAGATCATGAGAGCTGACGGTTCCATTTTCAGGGCTTTTGCAACCAAGTTGTTCAACACAACCATTAGTCTAAATTAAATGATACAAGCTAACATTTAAATAAATCATATTAAAAACAA | benign | 307,239 |
Does the variant on chromosome 19 at location 48297459 affecting gene ODAD1 (outer dynein arm docking complex subunit 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | CGTGAGCCACCACGCCCAGCCTGAATTTTTAGAAGTTTTTATATAGCTTTGATACCAATGGATTAAATTTTGACAGGGCATTTGGCATGACTCAACTACAGGAAAGAGTTATCAAGGTGTTCTAAGCCCTCTCACTCCTACACCCACCCCCGCTGCAGGAAAGGGCCAAAGTCAGCTTTTTCTCTGTGACCCTGTGGCTGGAGTTAGGGCTGTCCATAAATAATCCTTCCTTTCTCTCCTTCCAGGCACATGAAAAGACTGCGCTTCCCGGCGACCCTTTGAAGTTCGGCGTAACCTGCTGACCCGCTCTGGCTGAGTGTGAGCTAAGAGGACAGGTGTCATATCAGGTCCAAGCCTCGAGAGTCACTGCCTGCTGTGCCATCCTCTCTTCTTCCCGTGCCAAAGGACTGGCAGCACTCCAGTGATGGCTGTGCCATGGGCCCGGGGTACACGAGTGATATGGAGCGGAGCGCTCAGCTGGCCCACAAAGGAGAGAAAACTCTGCTGCCTGAGGACCACAGAGAATCTGCAGCTGTGACTGCAGCACAGCCCAGCCTGCCCTGACCAACATAGCTCCAAGAGAGCCAGACACGTGGATCTCAGAGAAATGGATGAATAGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCGACTAAAAATACAAAAATTAGCCGGGCGTGGTAGTGGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGAACGTGACACTGTACTCCAGCCTGGGCAACAAGAGGGAAACTTCATCTCAATAAATAAATAAATAAATAAATAAATAAATAAGAACGCTGAATGAGTGAGTGAATGAATGAATGAATGAATGAATGGCAGGGAATCGGGACAGGGTCACAGATTACCCCCAGGCTGGAGGTAGAGGAAGCAGCCATGGCTGAAGCCAGCTCTCCACACATATACTTTATTTCCACAGTCCCATTTTCCCATGCTGAACCTGGCGTCTTCGCCCTGACTTTTCCCACACCTGTCAGCACTGGGGGGCTCTTGGGGAGTAAGGAGCTACAGAGACAGGGACACAGGATGCGTGGAGAGCCTGGGAGATGGAGATGAGGAGAGAGAGCCGGAAACAGGAGGTGGGGGATCCACAGGGGGCCAGGGCTCAGCAGACAGGGAAGGGGCAGATATGGAGACAAGACGGACAGACACTGACCAGGAAGCCCAGAGAACAGGAGATCAGGAGTCAGAGGGAAAAGCAGTGTCAGGAGCAGAGAGAAAGGAACCGGGAGACACAGGTGAGGCGGTGATGAAGGGCAGATGAAAACAGTTGAAGGGGCAAAAAGACAGAGGCCTGCCACTGGGAGAAAAAGACAGAGACCCACAAGGCAAACAGGGGAAGTAGAGACACAAAAAAAGACCCCACAGAGAGCCAGGGCAGGGTGGGGGCTGCGTGCCCCTCGTGTTAGCCCCGGGAGTCTTTGCTGGTGGAGGAGCCCGGGCCAGTGCTGGAGGCAGGGCCGGTGCTGGAGACGTGGTCTCTGCTGGACCCGAGGCCTCCGCTCGAATCAGACGCTGTGCCTCCGCTCTCCACACCACCCTCTGTGTTTTCTCCGCCCCTGCTGGACCCCACGTATCCAGTGGAGCCCAGGTAGCTGCTGGCGCTGACGGGTCTGAAGGTCACGTGGCCCCCACTCGAGGCACTGGTGGAGCCGAAGGTCACGTGGCCAGTGTTGGGGTCACCGTGCGTGATGTGGCTGGGCAAATGCCCAGTGCTGGAGCTGAGGCCGCCAAAAGTGACGTGGCCAAGAGAGCCACGGTCTCTGCTAGTCTTGTGGCTCAAAATGGACCCGGGGATGGCATGGGGGTGCCTGGTGGGCACCAGGACGGTACTGGAGCCGGCCCTCTGGGTGCTGGCCAGGTCCACGCTCAGGGTGCCGTCCAGCTTCGCGGCGGCGGCGGCCAGGTCCTTCTGGCGCTGCGCCTCCGCCTGCTCCTGGAGCTCCACCTGCAGGGAAGGTGAACTGGGCCCCGACACACACTGAGGCCTGGCCCCACCCCCGCAGGCCCCACTCTCACCAGCTTCTCCACTTGGCTCAGCAGCTCCTCCCTGCTCATGGGGTAGTCATCGCTGGCCTCAAAACCCGGGGGGTCTTCTCTGGGGAGGGGAAGGAAAATTGGAAAAGACTAGACCTCAGCCCTCAAAAAGGCCAGCGGCCCTTCCTGCTAAACCCCGGGAGCCTCAGCCATTCTCCCACCAGCCCCGAGTGCCCTTCCCTTCTGGGGCACCCGGGGCCCCATCCTCCCACACAGGTGCCAAGCCCCTACTCCTTCTGGCTGCCTCGAAGCACATACTTCATATTCTAACCCCCCAGGGCCACATCCGCCAGCCAGTCCCCAAAAGCCCCCCAAAACTCTCTATCCTGTGTGTTCCCTCTGCCCCCATGGAAGCCCCGTCCCCTCTGCGTCCCTCCTGCCCTGCGCCTCACAGAGTGTCAGGGGGCTGAAGTGGGGCCATCTTCTTCGGAAGGTCCTCCAGGCTCTGGCCCAGCACTAGGAGGGCAGCGTCGGCCAGGGAGGTGAAGCTCTGGAGAGTGTGGGAGCCTGCGGTCAGCTGGGCCACCCCCGAGACCGGCCTCCTGTCCCGGCTCCCTGCCGTCTCCCACCTGGGCATGTAGGAAGGCCTGCACTGTCAGGAGCTCCACCAGCCGCTTCTCAATGAGGCTCAGGAAGAGGCCCATGTCCCGGTCTCCCATGCTGGTCTTGACCCCAAGGAGGTCATCGATCATGCTGCTGTCGCAATGGGCCTTGGTGAAGAGGAGCTGGATATCTGCGTCATGGAGGGCCGGTTGTCAGGGATCTGGCACCGCCAGCTGGGTGCCAGCCCTCTCCCCACTCAGGTCCTCACTGCCCCATTCTACAGAGACTGCGGTCAAGGCTCAGAGACCAAAAGGGAGTCACCCGAGCTCAGCCAGCCAGGCAGGGGGACGGCACTGCTGTGCATCCCTCTCTCCCTGACTTGTCCTTCAAAGTCAGCCTCAAGTGTCACTGCCTCCAGGAAGCCTTCCCAGTGACCCCAGCAGAGCCAGCCTCATGAGTGTGAGATCCAGGCAGTGGTGAGGGGCCTGCACTTGGCTTGACACGCTGCTGCTCTTCCTATCTTGAAAATCTCAGCAATTTTTTAACAAGGGGCCCCTCATTCTGCACTGGGCCCCACAAATTATGGTCTTGCACCCCAGACTGAGTTAGGGCCTTCTCTCGCCCCCAGTGCCTGGGCGTCCTCTGTCCTAGCCCCTGAGTGATGAGTGCCCAGTGCGCAGGTCAGTCCCCTCCAGGGCCTCTCCCCACTGTGCCCACATCACCTAGCACAGGGCTCGGATCAGCCATCACGACAGCAGGAAGGAGGACCTGCCCATATCTGAGCTCCTACGGTATGCCCCGAGGAGGCTCTCCAGCTCGCTCCCCACCACCCCCCACCTTTCTCTCCATCCGTCATCCCTTCTAATTCTCATGACAACCCTGCAAAGTAGGCACTGCCATCCCCATTCCCAGAGCGGAAGGAGGAAGCCACACACCAAGGTTCACAATTGGTGGAGCTGAGATTCAAACCCAGGACAGGCTGGGTGCAGTGGCTCACGCCTGTAATCCAGCACTTTGGGAAGCCAAGGCAGGCAGATCATTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCACCATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAACTAGCCGGGCATGGTAGTGCAGGCCTGTAATCCCAGTTACTGGAGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGATGGACGTTGCAGTAAGCCCAGATCACACCACTGCTCTCCAGCCTGGCTGACAGCGTGAGATTCCATCTCAAAAAAACAAATAAAAGCTAACAATAAATGTTTTAAAAAAGAGAAAAGAAACAGGACAGCCTGACTCCTGAGTGCTCTGCATGGCTACTTCCTGAA | CGTGAGCCACCACGCCCAGCCTGAATTTTTAGAAGTTTTTATATAGCTTTGATACCAATGGATTAAATTTTGACAGGGCATTTGGCATGACTCAACTACAGGAAAGAGTTATCAAGGTGTTCTAAGCCCTCTCACTCCTACACCCACCCCCGCTGCAGGAAAGGGCCAAAGTCAGCTTTTTCTCTGTGACCCTGTGGCTGGAGTTAGGGCTGTCCATAAATAATCCTTCCTTTCTCTCCTTCCAGGCACATGAAAAGACTGCGCTTCCCGGCGACCCTTTGAAGTTCGGCGTAACCTGCTGACCCGCTCTGGCTGAGTGTGAGCTAAGAGGACAGGTGTCATATCAGGTCCAAGCCTCGAGAGTCACTGCCTGCTGTGCCATCCTCTCTTCTTCCCGTGCCAAAGGACTGGCAGCACTCCAGTGATGGCTGTGCCATGGGCCCGGGGTACACGAGTGATATGGAGCGGAGCGCTCAGCTGGCCCACAAAGGAGAGAAAACTCTGCTGCCTGAGGACCACAGAGAATCTGCAGCTGTGACTGCAGCACAGCCCAGCCTGCCCTGACCAACATAGCTCCAAGAGAGCCAGACACGTGGATCTCAGAGAAATGGATGAATAGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCGACTAAAAATACAAAAATTAGCCGGGCGTGGTAGTGGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGAACGTGACACTGTACTCCAGCCTGGGCAACAAGAGGGAAACTTCATCTCAATAAATAAATAAATAAATAAATAAATAAATAAGAACGCTGAATGAGTGAGTGAATGAATGAATGAATGAATGAATGGCAGGGAATCGGGACAGGGTCACAGATTACCCCCAGGCTGGAGGTAGAGGAAGCAGCCATGGCTGAAGCCAGCTCTCCACACATATACTTTATTTCCACAGTCCCATTTTCCCATGCTGAACCTGGCGTCTTCGCCCTGACTTTTCCCACACCTGTCAGCACTGGGGGGCTCTTGGGGAGTAAGGAGCTACAGAGACAGGGACACAGGATGCGTGGAGAGCCTGGGAGATGGAGATGAGGAGAGAGAGCCGGAAACAGGAGGTGGGGGATCCACAGGGGGCCAGGGCTCAGCAGACAGGGAAGGGGCAGATATGGAGACAAGACGGACAGACACTGACCAGGAAGCCCAGAGAACAGGAGATCAGGAGTCAGAGGGAAAAGCAGTGTCAGGAGCAGAGAGAAAGGAACCGGGAGACACAGGTGAGGCGGTGATGAAGGGCAGATGAAAACAGTTGAAGGGGCAAAAAGACAGAGGCCTGCCACTGGGAGAAAAAGACAGAGACCCACAAGGCAAACAGGGGAAGTAGAGACACAAAAAAAGACCCCACAGAGAGCCAGGGCAGGGTGGGGGCTGCGTGCCCCTCGTGTTAGCCCCGGGAGTCTTTGCTGGTGGAGGAGCCCGGGCCAGTGCTGGAGGCAGGGCCGGTGCTGGAGACGTGGTCTCTGCTGGACCCGAGGCCTCCGCTCGAATCAGACGCTGTGCCTCCGCTCTCCACACCACCCTCTGTGTTTTCTCCGCCCCTGCTGGACCCCACGTATCCAGTGGAGCCCAGGTAGCTGCTGGCGCTGACGGGTCTGAAGGTCACGTGGCCCCCACTCGAGGCACTGGTGGAGCCGAAGGTCACGTGGCCAGTGTTGGGGTCACCGTGCGTGATGTGGCTGGGCAAATGCCCAGTGCTGGAGCTGAGGCCGCCAAAAGTGACGTGGCCAAGAGAGCCACGGTCTCTGCTAGTCTTGTGGCTCAAAATGGACCCGGGGATGGCATGGGGGTGCCTGGTGGGCACCAGGACGGTACTGGAGCCGGCCCTCTGGGTGCTGGCCAGGTCCACGCTCAGGGTGCCGTCCAGCTTCGCGGCGGCGGCGGCGGCCAGGTCCTTCTGGCGCTGCGCCTCCGCCTGCTCCTGGAGCTCCACCTGCAGGGAAGGTGAACTGGGCCCCGACACACACTGAGGCCTGGCCCCACCCCCGCAGGCCCCACTCTCACCAGCTTCTCCACTTGGCTCAGCAGCTCCTCCCTGCTCATGGGGTAGTCATCGCTGGCCTCAAAACCCGGGGGGTCTTCTCTGGGGAGGGGAAGGAAAATTGGAAAAGACTAGACCTCAGCCCTCAAAAAGGCCAGCGGCCCTTCCTGCTAAACCCCGGGAGCCTCAGCCATTCTCCCACCAGCCCCGAGTGCCCTTCCCTTCTGGGGCACCCGGGGCCCCATCCTCCCACACAGGTGCCAAGCCCCTACTCCTTCTGGCTGCCTCGAAGCACATACTTCATATTCTAACCCCCCAGGGCCACATCCGCCAGCCAGTCCCCAAAAGCCCCCCAAAACTCTCTATCCTGTGTGTTCCCTCTGCCCCCATGGAAGCCCCGTCCCCTCTGCGTCCCTCCTGCCCTGCGCCTCACAGAGTGTCAGGGGGCTGAAGTGGGGCCATCTTCTTCGGAAGGTCCTCCAGGCTCTGGCCCAGCACTAGGAGGGCAGCGTCGGCCAGGGAGGTGAAGCTCTGGAGAGTGTGGGAGCCTGCGGTCAGCTGGGCCACCCCCGAGACCGGCCTCCTGTCCCGGCTCCCTGCCGTCTCCCACCTGGGCATGTAGGAAGGCCTGCACTGTCAGGAGCTCCACCAGCCGCTTCTCAATGAGGCTCAGGAAGAGGCCCATGTCCCGGTCTCCCATGCTGGTCTTGACCCCAAGGAGGTCATCGATCATGCTGCTGTCGCAATGGGCCTTGGTGAAGAGGAGCTGGATATCTGCGTCATGGAGGGCCGGTTGTCAGGGATCTGGCACCGCCAGCTGGGTGCCAGCCCTCTCCCCACTCAGGTCCTCACTGCCCCATTCTACAGAGACTGCGGTCAAGGCTCAGAGACCAAAAGGGAGTCACCCGAGCTCAGCCAGCCAGGCAGGGGGACGGCACTGCTGTGCATCCCTCTCTCCCTGACTTGTCCTTCAAAGTCAGCCTCAAGTGTCACTGCCTCCAGGAAGCCTTCCCAGTGACCCCAGCAGAGCCAGCCTCATGAGTGTGAGATCCAGGCAGTGGTGAGGGGCCTGCACTTGGCTTGACACGCTGCTGCTCTTCCTATCTTGAAAATCTCAGCAATTTTTTAACAAGGGGCCCCTCATTCTGCACTGGGCCCCACAAATTATGGTCTTGCACCCCAGACTGAGTTAGGGCCTTCTCTCGCCCCCAGTGCCTGGGCGTCCTCTGTCCTAGCCCCTGAGTGATGAGTGCCCAGTGCGCAGGTCAGTCCCCTCCAGGGCCTCTCCCCACTGTGCCCACATCACCTAGCACAGGGCTCGGATCAGCCATCACGACAGCAGGAAGGAGGACCTGCCCATATCTGAGCTCCTACGGTATGCCCCGAGGAGGCTCTCCAGCTCGCTCCCCACCACCCCCCACCTTTCTCTCCATCCGTCATCCCTTCTAATTCTCATGACAACCCTGCAAAGTAGGCACTGCCATCCCCATTCCCAGAGCGGAAGGAGGAAGCCACACACCAAGGTTCACAATTGGTGGAGCTGAGATTCAAACCCAGGACAGGCTGGGTGCAGTGGCTCACGCCTGTAATCCAGCACTTTGGGAAGCCAAGGCAGGCAGATCATTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCACCATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAACTAGCCGGGCATGGTAGTGCAGGCCTGTAATCCCAGTTACTGGAGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGATGGACGTTGCAGTAAGCCCAGATCACACCACTGCTCTCCAGCCTGGCTGACAGCGTGAGATTCCATCTCAAAAAAACAAATAAAAGCTAACAATAAATGTTTTAAAAAAGAGAAAAGAAACAGGACAGCCTGACTCCTGAGTGCTCTGCATGGCTACTTCCT | benign | 307,266 |
Classify the chromosome 19 variant at position 48312025 affecting gene ODAD1 (outer dynein arm docking complex subunit 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Primary_ciliary_dyskinesia'] | GTAATCCCAGAACTTTGGGAGGCTGAGGCGGGTGGAACACCTTAGGTCAGGAGTTTGAGATCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGCGAGCCAAGATCACGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTTAGTATCAAAAAAGAAAAAAAAGACCAGATAAACCCATGTCAGGGGACATCGCACAACACAAACGGCCTGGATGCTTCCAAAATGTCAACGTCATGGAGAAAAAAAAGCCCAAGGGACTGACCCAGATGAACAGAGCCAGAACAACCAAATGCAACGTGAGATTCTGGACCGGAGCCTAGAGTAGGAAAATCAAGTTCACTGTAAAGGACATCACTGGGACAATCAGTGACCTTGACATATGGACGGTTTAGAATTCTAACAATGTTAACCTCCCTGACTTGGATAACAGCACTGTGTTTATGTAAGGAAATGGCGTTGTTCTTAGGAAATGCTCTCTCAAGTACTTAGGAGCATAATGTCTACAACATATTGTCAAACAGTTCAGCATTCAGGATAATAAATTATTCTCAGCAAAACAATAATTACACACACCAATAGTAAGAGTGGGGGAGAAAGAGAAAATAAATGTGGCAAATTATCAAACTGGGTGAAAGATATATAGGAGTTCTTTGTATAATTCTTGCACCTTTTTCTGTAATTTGAAATTATTTCCAAATGAAAGTCAAGACCGGACGCAGTGGCTCACGCCTCTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGAATTGCCTGAGCTCAGGAATTCAAGACTAGCCTGGGCAACATGGTGAAACCCTGTCCCTACTTAAAAAAAAAAAAATCGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGAAGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCAGGCCCCTGTAGTCCCAGCTACTCGGGAGGCTGATACAGGAGAATTGCTTGAATCTGGGAGGCACAGGCTGTAGTGAGCCAAGATCACTTCACTGTGCTCCAGCCTGGACGACAGAGTGAGACTCATCTCAAAACAAAGAAAGAAAGAAAGTCAAAAGAGAGGGGACAGGGCTGGTTCTTCAAAGATCCCCGTGGAATGTATAATAAATGGTCTTGCTTGCTCATAGATTGCCCTGGGTGATACTATTCAGAATGACATTCTGCTTTCTACAACTATAAATGAGGCCACTTTTTTGTTGGAAATGTCCTCCAACATTTCCCAGGCCTCCATGCCTTTTGGACTAAAGCAAGCCTACCGCTCTAGTCAATCCCATACTTGAGGCCTGAGTGCTAGAGCAGGAAGGGCAAACAGCTGTGGGGAGGACCTGCGCAGGGGTCCCTGTCTCCTCCCCTGGATTTCAGGGCCACTGACCTTCTTCAGCTTGCGGTCCACGTTCAGATAGCGGTTCCTGTCGATCCGCAGCAGATCCAGCTCCTCCCGCAGGGCCGCATTCCGTACCAGCTGGTTGTCAAAGTGACAGGTGACCTGGGAGTAGAAAGGTGGATGGAAGAGTGGGTCTGAAGCCAAGTCTGCCTGCCTCCTCCAAGCTCAGCCAAGGAGGAGACACTTATCAGAGGTTGGGCCGGCCTGTTTCCTGAGAAACAGAGGTTCTTTGGGGTTCCCGAAATCAATGTCCACTCCCCTCTAAGGACCCATCATTCTCCTTTCCTTGGGAACCTCCATCCCTCCAGAATCCTGTGTCCTGACACATATGTGCACACACTGCCCAGCATTTCCAGAATCCAATGACCATGCCCAGTTCTTCCCATAACCGCACAATTCAGGTCGAGGGACCAGGAGTTTGACCCTCACCCTGTCCAACTGGTTTTCTAGGATCCTGATCCTTCGCCTGATCTTGACCTTCTGATCCAGGATGAATCCCGGGGACCTGACATTCTTACTGTGGGTAAAGATCCGCGTCTCCCACTCCTGGATCTACAAGAAAGAGGATGGTACCTGTTTTTGGTTGCCTGAATGTGGGAGAGATTGAATGGCCCAGGGAAAATGAGTCACTAAGCATGGCAAACATCTGCTGTCCCTGTCACCCCAGAATAACATCTACCCTTCTGCTGACACTATCCAGCCCTCCATGTGGTTCTGGTGGGCCTTCCAACCACAGTGTATCACCCTATCAGCCACATGACCCAGGTCTGGACACTCACAGGGATTGGCCTAGAGATGGGAATGTGACCCCATGGAGCTAGCCTGACTCCTTTCCGTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCTCCCAGGCTGGAGTGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCCACCTCCCAGGCTCGAGCAATTCTAGTGCCTCAACCTCCCGAGTAGCTGGGATTACAGGCACGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCAAGAGCCACTGCACCCGGCCCTGACTCCTTTCCTGATAGTCTGGGGGAAGCACATGAGATGGAAGGATGGGATTCCAGGACTTCTCCTGTCATGGCCCCACCACAGGGAGGGTCCTGGGAGAATGAGGCCAGTGGACAGAAGTGGAGATGAGAGTCGGAGAGACGGTGAGAATGAACTTGATGACATTAGTAGCCCTGGGTCTGCTTATGCCTAAGACCAGCTTCCAATCTGTCCTCATTTCTGTATTCATCTGTACTTATTGGGGTGTGCTCTGTCTCTCCCAGCAAACTGGGGGTTCCATGAGGACACAGAGTCTTGTGTTTTCTCCCTGTCCGAGACAAAGAAGGTATTCAACATAACATGCAGACTAAATAGATAAATGAATTGCTCAACACTTCAATTTGTGCTCTGTTATGGGTTGAATCATGTCCCATAAAAACTCATATGTTGGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCAGAGGTGGGTGAATCAGCTGAGGTCAGGAGTTCAAGACCACCCTGGCCAACATGGCGAAACCCCACCTCTACTAAAATACAAAAATTAGCAAGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGAGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGGAACAGAACAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAACCAAAAAAAAACCTCACATGTTGAAGTCTTAACCCCCAGTACTTTAGAATGTGACCTTATTTGGAGACAGAGTCTTCATAGAAGTAATTAAAATGAGGTAATTAAGGTGGGCCCTAATCCACTACGACGAGGTGTTCTTAGAAAAATGGGAAATTGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAATACTTTGGAAGGCTGAGGCAGGATGATCTCTCGAAGCCAGGAGTTCAAGACCAGCCTGGGCCACAAAGCAAGACCCCATCTCTACAAGATACAAAATAAATTAGCTGGGCATGGTGGTGCACACCTGTAGTCCTAGCTACTTGGGAAGCTGAGGTGGCAGATCCCTTGAGACAAGGAGCTCGAAGCTGCAGTGAGCTGTGATTGAGCCACTGTACTCCAGCCTGGGTGACAGAGGGAGATCCTGTCTCAAAACAAAACAAAACAAAAAAGGAAATTTGGACATAGATACGCACACAGGGAGAATGCCACGTAAGGATAAAGACAGAGGTCAGGTGTGGTGGCTCACGCCTGTAATCCCAACACTTTCGGAGGCTGAGATGGGTGGATAACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCA | GTAATCCCAGAACTTTGGGAGGCTGAGGCGGGTGGAACACCTTAGGTCAGGAGTTTGAGATCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGCGAGCCAAGATCACGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTTAGTATCAAAAAAGAAAAAAAAGACCAGATAAACCCATGTCAGGGGACATCGCACAACACAAACGGCCTGGATGCTTCCAAAATGTCAACGTCATGGAGAAAAAAAAGCCCAAGGGACTGACCCAGATGAACAGAGCCAGAACAACCAAATGCAACGTGAGATTCTGGACCGGAGCCTAGAGTAGGAAAATCAAGTTCACTGTAAAGGACATCACTGGGACAATCAGTGACCTTGACATATGGACGGTTTAGAATTCTAACAATGTTAACCTCCCTGACTTGGATAACAGCACTGTGTTTATGTAAGGAAATGGCGTTGTTCTTAGGAAATGCTCTCTCAAGTACTTAGGAGCATAATGTCTACAACATATTGTCAAACAGTTCAGCATTCAGGATAATAAATTATTCTCAGCAAAACAATAATTACACACACCAATAGTAAGAGTGGGGGAGAAAGAGAAAATAAATGTGGCAAATTATCAAACTGGGTGAAAGATATATAGGAGTTCTTTGTATAATTCTTGCACCTTTTTCTGTAATTTGAAATTATTTCCAAATGAAAGTCAAGACCGGACGCAGTGGCTCACGCCTCTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGAATTGCCTGAGCTCAGGAATTCAAGACTAGCCTGGGCAACATGGTGAAACCCTGTCCCTACTTAAAAAAAAAAAAATCGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGAAGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCAGGCCCCTGTAGTCCCAGCTACTCGGGAGGCTGATACAGGAGAATTGCTTGAATCTGGGAGGCACAGGCTGTAGTGAGCCAAGATCACTTCACTGTGCTCCAGCCTGGACGACAGAGTGAGACTCATCTCAAAACAAAGAAAGAAAGAAAGTCAAAAGAGAGGGGACAGGGCTGGTTCTTCAAAGATCCCCGTGGAATGTATAATAAATGGTCTTGCTTGCTCATAGATTGCCCTGGGTGATACTATTCAGAATGACATTCTGCTTTCTACAACTATAAATGAGGCCACTTTTTTGTTGGAAATGTCCTCCAACATTTCCCAGGCCTCCATGCCTTTTGGACTAAAGCAAGCCTACCGCTCTAGTCAATCCCATACTTGAGGCCTGAGTGCTAGAGCAGGAAGGGCAAACAGCTGTGGGGAGGACCTGCGCAGGGGTCCCTGTCTCCTCCCCTGGATTTCAGGGCCACTGACCTTCTTCAGCTTGCGGTCCACGTTCAGATAGCGGTTCCTGTCGATCCGCAGCAGATCCAGCTCCTCCCGCAGGGCCGCATTCCGTACCAGCTGGTTGTCAAAGTGACAGGTGACCTGGGAGTAGAAAGGTGGATGGAAGAGTGGGTCTGAAGCCAAGTCTGCCTGCCTCCTCCAAGCTCAGCCAAGGAGGAGACACTTATCAGAGGTTGGGCCGGCCTGTTTCCTGAGAAACAGAGGTTCTTTGGGGTTCCCGAAATCAATGTCCACTCCCCTCTAAGGACCCATCATTCTCCTTTCCTTGGGAACCTCCATCCCTCCAGAATCCTGTGTCCTGACACATATGTGCACACACTGCCCAGCATTTCCAGAATCCAATGACCATGCCCAGTTCTTCCCATAACCGCACAATTCAGGTCGAGGGACCAGGAGTTTGACCCTCACCCTGTCCAACTGGTTTTCTAGGATCCTGATCCTCGCCTGATCTTGACCTTCTGATCCAGGATGAATCCCGGGGACCTGACATTCTTACTGTGGGTAAAGATCCGCGTCTCCCACTCCTGGATCTACAAGAAAGAGGATGGTACCTGTTTTTGGTTGCCTGAATGTGGGAGAGATTGAATGGCCCAGGGAAAATGAGTCACTAAGCATGGCAAACATCTGCTGTCCCTGTCACCCCAGAATAACATCTACCCTTCTGCTGACACTATCCAGCCCTCCATGTGGTTCTGGTGGGCCTTCCAACCACAGTGTATCACCCTATCAGCCACATGACCCAGGTCTGGACACTCACAGGGATTGGCCTAGAGATGGGAATGTGACCCCATGGAGCTAGCCTGACTCCTTTCCGTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCTCCCAGGCTGGAGTGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCCACCTCCCAGGCTCGAGCAATTCTAGTGCCTCAACCTCCCGAGTAGCTGGGATTACAGGCACGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCAAGAGCCACTGCACCCGGCCCTGACTCCTTTCCTGATAGTCTGGGGGAAGCACATGAGATGGAAGGATGGGATTCCAGGACTTCTCCTGTCATGGCCCCACCACAGGGAGGGTCCTGGGAGAATGAGGCCAGTGGACAGAAGTGGAGATGAGAGTCGGAGAGACGGTGAGAATGAACTTGATGACATTAGTAGCCCTGGGTCTGCTTATGCCTAAGACCAGCTTCCAATCTGTCCTCATTTCTGTATTCATCTGTACTTATTGGGGTGTGCTCTGTCTCTCCCAGCAAACTGGGGGTTCCATGAGGACACAGAGTCTTGTGTTTTCTCCCTGTCCGAGACAAAGAAGGTATTCAACATAACATGCAGACTAAATAGATAAATGAATTGCTCAACACTTCAATTTGTGCTCTGTTATGGGTTGAATCATGTCCCATAAAAACTCATATGTTGGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCAGAGGTGGGTGAATCAGCTGAGGTCAGGAGTTCAAGACCACCCTGGCCAACATGGCGAAACCCCACCTCTACTAAAATACAAAAATTAGCAAGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGAGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGGAACAGAACAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAACCAAAAAAAAACCTCACATGTTGAAGTCTTAACCCCCAGTACTTTAGAATGTGACCTTATTTGGAGACAGAGTCTTCATAGAAGTAATTAAAATGAGGTAATTAAGGTGGGCCCTAATCCACTACGACGAGGTGTTCTTAGAAAAATGGGAAATTGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAATACTTTGGAAGGCTGAGGCAGGATGATCTCTCGAAGCCAGGAGTTCAAGACCAGCCTGGGCCACAAAGCAAGACCCCATCTCTACAAGATACAAAATAAATTAGCTGGGCATGGTGGTGCACACCTGTAGTCCTAGCTACTTGGGAAGCTGAGGTGGCAGATCCCTTGAGACAAGGAGCTCGAAGCTGCAGTGAGCTGTGATTGAGCCACTGTACTCCAGCCTGGGTGACAGAGGGAGATCCTGTCTCAAAACAAAACAAAACAAAAAAGGAAATTTGGACATAGATACGCACACAGGGAGAATGCCACGTAAGGATAAAGACAGAGGTCAGGTGTGGTGGCTCACGCCTGTAATCCCAACACTTTCGGAGGCTGAGATGGGTGGATAACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCAN | pathogenic | 307,326 |
Evaluate this variant at chromosome 19, position 48965302, gene FTL (ferritin light chain): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | CTCCCTCTGGGTCTCTGCCCTCCTCTCTCTAGGTCTGTCCCCCTCCCCTCTCTCTCAGGGTCTCTGTACCCCTCTGTCTCCGGGTCTGTTTTCCCCTCTCTCTGGGTCTCTGTCCCCCTCTCTCTCAGGGTCTCTGTCTGAGTCTCTTTTTCTCTGGGCCTCTGTCTCCCCACCCCACGTTCTCTATGGTCTTCAGATCCTGTCTCTCTCAGCCCCTCCTCTCCCTCCACCTATGGGCCCCAAGGCCCCTCTCGGCCGACTAAAGGTCTCTGGGCTGAGGTATGACATTTGGTAAATGAGTAACTCGGGCCCCACAGTCAACGGGGTGCTTTGGACGGCTGCCCCTCCTCCATGGACTCTTCCCAGAGACCCCAAGTCAGGGGAGAGAGAGGGGCAGAGGATCAATGAGTGTACACTGAGCCACCACCCAGAGTGAGGGGACAATATGGCCACAGGCAGGATCCCAGAAAAAAAAAAATTATGGGAACCAAAAAGACACGGAGACAAAGCACACAGCCGGCTTCCAACAAGGGGGGACCTTGGGGTAGGGGGCCCGATTTGGGTCTGAGCCAGGTCTAGTTCTGAGGGTCCCACCAAAAAAGTCGGGGAGTGCCAAGGGGATGAGGTCAGCGAGTGGCCCCACCCCCATCCGTCCCCGCGGGGGCCCCTTCCCGCGCTGAGCTCAGCATGACTCAGCAGTCGCTGCCTGCAACAAGGACCCCAGATACCGGCCTGGCGGGGCATCTGCAGATCCCCTCGGTCAGGGGCTGCCCCGCCTGGGCTGTTCGGAGCAGCTCCTCTGTAGGGCAGGGCCTGACCTCACCCCACACCCCAGTGGCTTCAGCTCCCTGCCCAGCGCACGGGCTGCCTCCATCAGGGCACTTAAGTAGAGTCAAGGTTTGCGCCGACTCCGTCTCCCAGAAATCAACGTGGACCAGGCCCACTTAAAAAATATGCATTAGTCGAAGACAGACGTCTCGTCCATAGGTCCCCAGACTGTTTGTCCACAACGCAGGGCTTCTCTTTGTGGGCCTGAAGGAGCACACGTCAGGCAAGACACGAGGGCAACTTCAGAGACACTGTTCAGGGCCACGGAGAATTCTCGAAGTCTGTGAGTTGTCTCCAAAACAGCCTCCAGGAAATGCAATCCCAGAGACACCGCAAAGCTCAAAACAGACTTTTCATTCCTCCCCATTTCCACTCCCAGAAAAAGCCTGGGCCCCTGAAAGAGCTCCAAGGTATCCCCAAAGTCCCAGCCCATCTTTGGAGGGTTCCAGAGGGCTGTCCAGGGTTCCAGAAGTCACCCTACCTCATACAATGCTCCTCCTGGGCTTCCCGCACTGGGTGAAACCCACGGCTCCAGAATAACTGCCCTTTCCAACTTGCAGAGCACCTCAAGAACCTAAAGATTTCCCCGGGGAGGGCTCCAAAATATAGAGAGTTTGCATCGTGAACCCCCACCCCTGTAAATCCCAGGACTCCAGTCCCCGCAACACTCCATCTTCCAGAGATCTCCAGGGGTCCAGAAATAACACCTCACAGCCTTCCAAGCTTCCCAAGGATCCGGAGACTCCTTATCTCGCAGCGCAAACCTCAGGCAACTACAGGTCCTCCCTGCACCTTTGAGGTGCCCCTCCCCCCACTCAAGGTTCCAGAAAAATCCATGCCCTCGGAAACCCCAGAATCTTACTTTCCCGAGGCACCCCAGGACCCCAGGGTCATCAGTTCACAGGGCTGTTAGTGCTCCCATAAAACTCTAGCCTCCCAGAGGGACCCCAGCCCCCACCCTCCCGCCCACGAACCCCTGCATTTCCAGAATCAGCCCCAGGGCCCCAACCCCCCCAAGCCCCCATTTCACAACACGCTGGCGCTACAGGCGCGTGACTTCCCCTTGCTTTGGGGCGGGGGGCTGAGACTCCTATGTGCTCCGGATTGGTCAGGCACGGCCTTCGGCCCCGCCTCCTGCCACCGCAGATTGGCCGCTAGCCCTCCCCGAGCGCCCTGCCTCCGAGGGCCGGCGCACCATAAAAGAAGCCGCCCTAGCCACGTCCCCTCGCAGTTCGGCGGTCCCGCGGGTCTGTCTCTTGCTTCAACAGTGTTTGGACGGAACAGATCCGGGGACTCTCTTCCAGCCTCCGACCGCCCTCCGATTTCCTCTCCGCTTGCAACCTCCGGGACCATCTTCTCGGCCATCTCCTGCTTCTGGGACCTGCCAGCACCGTTTTTGTGGTTAGCTCCTTCTTGCCAACCAACCATGAGCTCCCAGATTCGTCAGAATTATTCCACCGACGTGGAGGCAGCCGTCAACAGCCTGGTCAATTTGTACCTGCAGGCCTCCTACACCTACCTCTCTCTGGTGAGTCCCCAGGACGCCCCTGGCCCTAATTTCCTCCAGCTGCGCACCTCCGGCCCTCACTGCACGCGCCAGCCTTCTTTGTGCGGTCGGGTAAACAGAGGGCGGAGTCCCCTTGGCCTCGCCTCCCGCTAACCATTGTTGCCTCCATCTCTTCCCGTAGGGCTTCTATTTCGACCGCGATGATGTGGCTCTGGAAGGCGTGAGCCACTTCTTCCGCGAATTGGCCGAGGAGAAGCGCGAGGGCTACGAGCGTCTCCTGAAGATGCAAAACCAGCGTGGCGGCCGCGCTCTCTTCCAGGACATCAAGGTAACTAGTGTGTGGGTAATGGACTACATCTCCCAGCAGGCCGTGCGCGCGAGGAGCCTTGATTTGAGGGCGTAGGTGTCGCGTGGGCTTCTGGGAGATTGAGTTCGGTCTTGTGAGCCCTCTTAACCGCTGGAAATAGAGGCGCACCTCGTGCAGTGCCCACAACACGCGGCAGTCCACACCGCTGCGTGGTCTTAGGGACGTATAGCTGTAAGAGCTAGGACAGGGTGCGGAGAGTGATAAATACAAGCTGTCACATGTCTTTGTGGCCTGGGCCTCTGACCCCCAACGACTCTTGGGAAATGTAGGTTTAGTTCTATGTGCCGAGTGTGTGTATTCTGAGCCATTTCTCCCTTCTATATAGAAGCCAGCTGAAGATGAGTGGGGTAAAACCCCAGACGCCATGAAAGCTGCCATGGCCCTGGAGAAAAAGCTGAACCAGGCCCTTTTGGATCTTCATGCCCTGGGTTCTGCCCGCACGGACCCCCATGTACGTACCCGCTGCATCCATGGCTACCCAACCATACCCCTCAAGCCTCTGCTCCCTTTGGGCAAATTTCCTTCAGAGCCTCATTTCACACCTGTCACATTTTAATCTGCAACTGGCTGCTCTCTCCCCCTCTTTTCCAGGGATTGGGTTTCTAATTTCTCCCTCTTCTCTCTCAGCTCTGTGACTTCCTGGAGACTCACTTCCTAGATGAGGAAGTGAAGCTTATCAAGAAGATGGGTGACCACCTGACCAACCTCCACAGGCTGGGTGGCCCGGAGGCTGGGCTGGGCGAGTATCTCTTCGAAAGGCTCACTCTCAAGCACGACTAAGAGCCTTCTGAGCCCAGCGACTTCTGAAGGGCCCCTTGCAAAGTAATAGGGCTTCTGCCTAAGCCTCTCCCTCCAGCCAATAGGCAGCTTTCTTAACTATCCTAACAAGCCTTGGACCAAATGGAAATAAAGCTTTTTGATGCAGCTGGTGGTTTTGTGTGTGGTGTGGAAGATGAGGTGGGATCTGTTCTCATAAAGCTTCTGGCTGGGTTGGGATGCCAGTGAAAGAGGAGTTGGCCCCATCTCCCATTTTCTTAACTGTCCTAAGACAAGAGGCTATCTGGGTAGTGTTGAACCTGAGGGTTCTCTGCTTGCCTGGCTGTTAACTGTCCCTCCCAGATGGTAGAGATAGACTCCAGGGAGTTGAATTAAGACCTAGGTTGGTATCTAGAAACAGATGTTAGGTCTCAGCCAGAAACAGCCCTATTTAACGAGTGATTATGGGGCCAGGTGGGTCGCTCACCTGATGTCAGGAGTTCGAGACCAGCCTGACCAACATGAAGAAACCCCGTCTCTACTAAAATACAAAATTAGCTGGGTGTGGTGGCTCATACCTGTAATCCCAGCTAGTCAGGAGGTTGAGGTAGGAGAATCGCTTGAATCTGGGAGGCGGA | CTCCCTCTGGGTCTCTGCCCTCCTCTCTCTAGGTCTGTCCCCCTCCCCTCTCTCTCAGGGTCTCTGTACCCCTCTGTCTCCGGGTCTGTTTTCCCCTCTCTCTGGGTCTCTGTCCCCCTCTCTCTCAGGGTCTCTGTCTGAGTCTCTTTTTCTCTGGGCCTCTGTCTCCCCACCCCACGTTCTCTATGGTCTTCAGATCCTGTCTCTCTCAGCCCCTCCTCTCCCTCCACCTATGGGCCCCAAGGCCCCTCTCGGCCGACTAAAGGTCTCTGGGCTGAGGTATGACATTTGGTAAATGAGTAACTCGGGCCCCACAGTCAACGGGGTGCTTTGGACGGCTGCCCCTCCTCCATGGACTCTTCCCAGAGACCCCAAGTCAGGGGAGAGAGAGGGGCAGAGGATCAATGAGTGTACACTGAGCCACCACCCAGAGTGAGGGGACAATATGGCCACAGGCAGGATCCCAGAAAAAAAAAAATTATGGGAACCAAAAAGACACGGAGACAAAGCACACAGCCGGCTTCCAACAAGGGGGGACCTTGGGGTAGGGGGCCCGATTTGGGTCTGAGCCAGGTCTAGTTCTGAGGGTCCCACCAAAAAAGTCGGGGAGTGCCAAGGGGATGAGGTCAGCGAGTGGCCCCACCCCCATCCGTCCCCGCGGGGGCCCCTTCCCGCGCTGAGCTCAGCATGACTCAGCAGTCGCTGCCTGCAACAAGGACCCCAGATACCGGCCTGGCGGGGCATCTGCAGATCCCCTCGGTCAGGGGCTGCCCCGCCTGGGCTGTTCGGAGCAGCTCCTCTGTAGGGCAGGGCCTGACCTCACCCCACACCCCAGTGGCTTCAGCTCCCTGCCCAGCGCACGGGCTGCCTCCATCAGGGCACTTAAGTAGAGTCAAGGTTTGCGCCGACTCCGTCTCCCAGAAATCAACGTGGACCAGGCCCACTTAAAAAATATGCATTAGTCGAAGACAGACGTCTCGTCCATAGGTCCCCAGACTGTTTGTCCACAACGCAGGGCTTCTCTTTGTGGGCCTGAAGGAGCACACGTCAGGCAAGACACGAGGGCAACTTCAGAGACACTGTTCAGGGCCACGGAGAATTCTCGAAGTCTGTGAGTTGTCTCCAAAACAGCCTCCAGGAAATGCAATCCCAGAGACACCGCAAAGCTCAAAACAGACTTTTCATTCCTCCCCATTTCCACTCCCAGAAAAAGCCTGGGCCCCTGAAAGAGCTCCAAGGTATCCCCAAAGTCCCAGCCCATCTTTGGAGGGTTCCAGAGGGCTGTCCAGGGTTCCAGAAGTCACCCTACCTCATACAATGCTCCTCCTGGGCTTCCCGCACTGGGTGAAACCCACGGCTCCAGAATAACTGCCCTTTCCAACTTGCAGAGCACCTCAAGAACCTAAAGATTTCCCCGGGGAGGGCTCCAAAATATAGAGAGTTTGCATCGTGAACCCCCACCCCTGTAAATCCCAGGACTCCAGTCCCCGCAACACTCCATCTTCCAGAGATCTCCAGGGGTCCAGAAATAACACCTCACAGCCTTCCAAGCTTCCCAAGGATCCGGAGACTCCTTATCTCGCAGCGCAAACCTCAGGCAACTACAGGTCCTCCCTGCACCTTTGAGGTGCCCCTCCCCCCACTCAAGGTTCCAGAAAAATCCATGCCCTCGGAAACCCCAGAATCTTACTTTCCCGAGGCACCCCAGGACCCCAGGGTCATCAGTTCACAGGGCTGTTAGTGCTCCCATAAAACTCTAGCCTCCCAGAGGGACCCCAGCCCCCACCCTCCCGCCCACGAACCCCTGCATTTCCAGAATCAGCCCCAGGGCCCCAACCCCCCCAAGCCCCCATTTCACAACACGCTGGCGCTACAGGCGCGTGACTTCCCCTTGCTTTGGGGCGGGGGGCTGAGACTCCTATGTGCTCCGGATTGGTCAGGCACGGCCTTCGGCCCCGCCTCCTGCCACCGCAGATTGGCCGCTAGCCCTCCCCGAGCGCCCTGCCTCCGAGGGCCGGCGCACCATAAAAGAAGCCGCCCTAGCCACGTCCCTCGCAGTTCGGCGGTCCCGCGGGTCTGTCTCTTGCTTCAACAGTGTTTGGACGGAACAGATCCGGGGACTCTCTTCCAGCCTCCGACCGCCCTCCGATTTCCTCTCCGCTTGCAACCTCCGGGACCATCTTCTCGGCCATCTCCTGCTTCTGGGACCTGCCAGCACCGTTTTTGTGGTTAGCTCCTTCTTGCCAACCAACCATGAGCTCCCAGATTCGTCAGAATTATTCCACCGACGTGGAGGCAGCCGTCAACAGCCTGGTCAATTTGTACCTGCAGGCCTCCTACACCTACCTCTCTCTGGTGAGTCCCCAGGACGCCCCTGGCCCTAATTTCCTCCAGCTGCGCACCTCCGGCCCTCACTGCACGCGCCAGCCTTCTTTGTGCGGTCGGGTAAACAGAGGGCGGAGTCCCCTTGGCCTCGCCTCCCGCTAACCATTGTTGCCTCCATCTCTTCCCGTAGGGCTTCTATTTCGACCGCGATGATGTGGCTCTGGAAGGCGTGAGCCACTTCTTCCGCGAATTGGCCGAGGAGAAGCGCGAGGGCTACGAGCGTCTCCTGAAGATGCAAAACCAGCGTGGCGGCCGCGCTCTCTTCCAGGACATCAAGGTAACTAGTGTGTGGGTAATGGACTACATCTCCCAGCAGGCCGTGCGCGCGAGGAGCCTTGATTTGAGGGCGTAGGTGTCGCGTGGGCTTCTGGGAGATTGAGTTCGGTCTTGTGAGCCCTCTTAACCGCTGGAAATAGAGGCGCACCTCGTGCAGTGCCCACAACACGCGGCAGTCCACACCGCTGCGTGGTCTTAGGGACGTATAGCTGTAAGAGCTAGGACAGGGTGCGGAGAGTGATAAATACAAGCTGTCACATGTCTTTGTGGCCTGGGCCTCTGACCCCCAACGACTCTTGGGAAATGTAGGTTTAGTTCTATGTGCCGAGTGTGTGTATTCTGAGCCATTTCTCCCTTCTATATAGAAGCCAGCTGAAGATGAGTGGGGTAAAACCCCAGACGCCATGAAAGCTGCCATGGCCCTGGAGAAAAAGCTGAACCAGGCCCTTTTGGATCTTCATGCCCTGGGTTCTGCCCGCACGGACCCCCATGTACGTACCCGCTGCATCCATGGCTACCCAACCATACCCCTCAAGCCTCTGCTCCCTTTGGGCAAATTTCCTTCAGAGCCTCATTTCACACCTGTCACATTTTAATCTGCAACTGGCTGCTCTCTCCCCCTCTTTTCCAGGGATTGGGTTTCTAATTTCTCCCTCTTCTCTCTCAGCTCTGTGACTTCCTGGAGACTCACTTCCTAGATGAGGAAGTGAAGCTTATCAAGAAGATGGGTGACCACCTGACCAACCTCCACAGGCTGGGTGGCCCGGAGGCTGGGCTGGGCGAGTATCTCTTCGAAAGGCTCACTCTCAAGCACGACTAAGAGCCTTCTGAGCCCAGCGACTTCTGAAGGGCCCCTTGCAAAGTAATAGGGCTTCTGCCTAAGCCTCTCCCTCCAGCCAATAGGCAGCTTTCTTAACTATCCTAACAAGCCTTGGACCAAATGGAAATAAAGCTTTTTGATGCAGCTGGTGGTTTTGTGTGTGGTGTGGAAGATGAGGTGGGATCTGTTCTCATAAAGCTTCTGGCTGGGTTGGGATGCCAGTGAAAGAGGAGTTGGCCCCATCTCCCATTTTCTTAACTGTCCTAAGACAAGAGGCTATCTGGGTAGTGTTGAACCTGAGGGTTCTCTGCTTGCCTGGCTGTTAACTGTCCCTCCCAGATGGTAGAGATAGACTCCAGGGAGTTGAATTAAGACCTAGGTTGGTATCTAGAAACAGATGTTAGGTCTCAGCCAGAAACAGCCCTATTTAACGAGTGATTATGGGGCCAGGTGGGTCGCTCACCTGATGTCAGGAGTTCGAGACCAGCCTGACCAACATGAAGAAACCCCGTCTCTACTAAAATACAAAATTAGCTGGGTGTGGTGGCTCATACCTGTAATCCCAGCTAGTCAGGAGGTTGAGGTAGGAGAATCGCTTGAATCTGGGAGGCGGAN | benign | 307,447 |
Variant in FTL (ferritin light chain), chromosome 19, position 48966683—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Neuroferritinopathy'] | CTTGCAGAGCACCTCAAGAACCTAAAGATTTCCCCGGGGAGGGCTCCAAAATATAGAGAGTTTGCATCGTGAACCCCCACCCCTGTAAATCCCAGGACTCCAGTCCCCGCAACACTCCATCTTCCAGAGATCTCCAGGGGTCCAGAAATAACACCTCACAGCCTTCCAAGCTTCCCAAGGATCCGGAGACTCCTTATCTCGCAGCGCAAACCTCAGGCAACTACAGGTCCTCCCTGCACCTTTGAGGTGCCCCTCCCCCCACTCAAGGTTCCAGAAAAATCCATGCCCTCGGAAACCCCAGAATCTTACTTTCCCGAGGCACCCCAGGACCCCAGGGTCATCAGTTCACAGGGCTGTTAGTGCTCCCATAAAACTCTAGCCTCCCAGAGGGACCCCAGCCCCCACCCTCCCGCCCACGAACCCCTGCATTTCCAGAATCAGCCCCAGGGCCCCAACCCCCCCAAGCCCCCATTTCACAACACGCTGGCGCTACAGGCGCGTGACTTCCCCTTGCTTTGGGGCGGGGGGCTGAGACTCCTATGTGCTCCGGATTGGTCAGGCACGGCCTTCGGCCCCGCCTCCTGCCACCGCAGATTGGCCGCTAGCCCTCCCCGAGCGCCCTGCCTCCGAGGGCCGGCGCACCATAAAAGAAGCCGCCCTAGCCACGTCCCCTCGCAGTTCGGCGGTCCCGCGGGTCTGTCTCTTGCTTCAACAGTGTTTGGACGGAACAGATCCGGGGACTCTCTTCCAGCCTCCGACCGCCCTCCGATTTCCTCTCCGCTTGCAACCTCCGGGACCATCTTCTCGGCCATCTCCTGCTTCTGGGACCTGCCAGCACCGTTTTTGTGGTTAGCTCCTTCTTGCCAACCAACCATGAGCTCCCAGATTCGTCAGAATTATTCCACCGACGTGGAGGCAGCCGTCAACAGCCTGGTCAATTTGTACCTGCAGGCCTCCTACACCTACCTCTCTCTGGTGAGTCCCCAGGACGCCCCTGGCCCTAATTTCCTCCAGCTGCGCACCTCCGGCCCTCACTGCACGCGCCAGCCTTCTTTGTGCGGTCGGGTAAACAGAGGGCGGAGTCCCCTTGGCCTCGCCTCCCGCTAACCATTGTTGCCTCCATCTCTTCCCGTAGGGCTTCTATTTCGACCGCGATGATGTGGCTCTGGAAGGCGTGAGCCACTTCTTCCGCGAATTGGCCGAGGAGAAGCGCGAGGGCTACGAGCGTCTCCTGAAGATGCAAAACCAGCGTGGCGGCCGCGCTCTCTTCCAGGACATCAAGGTAACTAGTGTGTGGGTAATGGACTACATCTCCCAGCAGGCCGTGCGCGCGAGGAGCCTTGATTTGAGGGCGTAGGTGTCGCGTGGGCTTCTGGGAGATTGAGTTCGGTCTTGTGAGCCCTCTTAACCGCTGGAAATAGAGGCGCACCTCGTGCAGTGCCCACAACACGCGGCAGTCCACACCGCTGCGTGGTCTTAGGGACGTATAGCTGTAAGAGCTAGGACAGGGTGCGGAGAGTGATAAATACAAGCTGTCACATGTCTTTGTGGCCTGGGCCTCTGACCCCCAACGACTCTTGGGAAATGTAGGTTTAGTTCTATGTGCCGAGTGTGTGTATTCTGAGCCATTTCTCCCTTCTATATAGAAGCCAGCTGAAGATGAGTGGGGTAAAACCCCAGACGCCATGAAAGCTGCCATGGCCCTGGAGAAAAAGCTGAACCAGGCCCTTTTGGATCTTCATGCCCTGGGTTCTGCCCGCACGGACCCCCATGTACGTACCCGCTGCATCCATGGCTACCCAACCATACCCCTCAAGCCTCTGCTCCCTTTGGGCAAATTTCCTTCAGAGCCTCATTTCACACCTGTCACATTTTAATCTGCAACTGGCTGCTCTCTCCCCCTCTTTTCCAGGGATTGGGTTTCTAATTTCTCCCTCTTCTCTCTCAGCTCTGTGACTTCCTGGAGACTCACTTCCTAGATGAGGAAGTGAAGCTTATCAAGAAGATGGGTGACCACCTGACCAACCTCCACAGGCTGGGTGGCCCGGAGGCTGGGCTGGGCGAGTATCTCTTCGAAAGGCTCACTCTCAAGCACGACTAAGAGCCTTCTGAGCCCAGCGACTTCTGAAGGGCCCCTTGCAAAGTAATAGGGCTTCTGCCTAAGCCTCTCCCTCCAGCCAATAGGCAGCTTTCTTAACTATCCTAACAAGCCTTGGACCAAATGGAAATAAAGCTTTTTGATGCAGCTGGTGGTTTTGTGTGTGGTGTGGAAGATGAGGTGGGATCTGTTCTCATAAAGCTTCTGGCTGGGTTGGGATGCCAGTGAAAGAGGAGTTGGCCCCATCTCCCATTTTCTTAACTGTCCTAAGACAAGAGGCTATCTGGGTAGTGTTGAACCTGAGGGTTCTCTGCTTGCCTGGCTGTTAACTGTCCCTCCCAGATGGTAGAGATAGACTCCAGGGAGTTGAATTAAGACCTAGGTTGGTATCTAGAAACAGATGTTAGGTCTCAGCCAGAAACAGCCCTATTTAACGAGTGATTATGGGGCCAGGTGGGTCGCTCACCTGATGTCAGGAGTTCGAGACCAGCCTGACCAACATGAAGAAACCCCGTCTCTACTAAAATACAAAATTAGCTGGGTGTGGTGGCTCATACCTGTAATCCCAGCTAGTCAGGAGGTTGAGGTAGGAGAATCGCTTGAATCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATGGCGTCATTGCACTCCAGCCTGGGCAAAAAGAGTGGAACTCCCATCTCAAACAAAAAACATGTCTGCCTCACGGAAGTTGCGGTGAGCTGAGATGGCGCCACTGTGCTCCAGCTTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAGAAAAAAGCCTCAATTCTGGGAGGCAGTTGGAATTATTAGGCCCTTTATATGGGCACATTGACGCTATTGCTATGCAACTTGCATGGCAACCGGGGGGCTCACTGAGGTCTTTGCTCCAGAGTTTAAGAGATTATGGCCCGAGCTTGAGTGATCCCAATGTGAGGCGCACACTGAGAGGAACTGGCCAGTGGAGCTGAGCAGCCAGGAACACGTGATGCCCAAGCAATGCTGGACAAGGGGTTTAGGGTTCATCACAGAAATGGGATGTGAAACCTTGGGCCGGATTCTCCAAATGGGAACTGAAGAAGCTTAAAACAGGCCTTAAAAAGCACTTGCTGTGTCCAAGCTGCAAAACTGCTGTGTCAGCTCTGACTCTTCCCCTTCTCCTTCCCCTGGGTCTGGGGCAGGGTGGTTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGACGATCACTTGAGCCCAGGAGGTTGAGACCAGCCTAAGCAACATAGGGAGACCCCCCAAGTCTCTCTAGAATAAGAGGATGAGCTCAGACCAGGGAAGGGGTGGTACTGGGGGGACGTCACAGCCAGGCCCACCAAGTGTCATGTCTGACCACACCTGGGATTCTTAAATATAGATGTATTTTTTTCATCTCATCTCCGGACACACTCCAATCACACCCCTCCTGCCCTCCCCTCTCAACTGCAAACCAAGCGGTGCAGACACAGCACAGCACACATGAGGGGCCCTCCCTTTCACCAAAGCTGAAGGCAGGGCACAGTTTGGGGATGGAAGAGCCTCGAGGTAAATGTGGGGGTTCTAGAACCCAGTGACCTCAGTTCTGGATCATGGGAAAGGGATCAGTATGCAGTAACGTGGTAAGGTTCCAGATCTAGAAGCCAGGACCTAGAACCTAGTGGTTTCACAGTGGGCAGAGCAGTTGGGAATAAGCCAGGTTAGGGGTGGGGGAAGACAGCCAGCTCTGTCCTCTGCAGGCGGATTCCCTGGAGGGAGATCTCAGATTTAGAAAGGAAGAGTAGGATCTGGTCCAGAAAGGGCCAGAAAGACAGGAAGGCATCTGGACTGAGACTGTGTGTCCTCCAGAAGGAATGAGCAGCCAAGTGGTTCTACCACCTCTTGCTTGGCCAAAGTGTAGGGGATGACAGGAGCCGGATGGAGGGATCCTCCAGGCAGAGCCTGGCTCTGACATGCCAGGGAGGGCTAG | CTTGCAGAGCACCTCAAGAACCTAAAGATTTCCCCGGGGAGGGCTCCAAAATATAGAGAGTTTGCATCGTGAACCCCCACCCCTGTAAATCCCAGGACTCCAGTCCCCGCAACACTCCATCTTCCAGAGATCTCCAGGGGTCCAGAAATAACACCTCACAGCCTTCCAAGCTTCCCAAGGATCCGGAGACTCCTTATCTCGCAGCGCAAACCTCAGGCAACTACAGGTCCTCCCTGCACCTTTGAGGTGCCCCTCCCCCCACTCAAGGTTCCAGAAAAATCCATGCCCTCGGAAACCCCAGAATCTTACTTTCCCGAGGCACCCCAGGACCCCAGGGTCATCAGTTCACAGGGCTGTTAGTGCTCCCATAAAACTCTAGCCTCCCAGAGGGACCCCAGCCCCCACCCTCCCGCCCACGAACCCCTGCATTTCCAGAATCAGCCCCAGGGCCCCAACCCCCCCAAGCCCCCATTTCACAACACGCTGGCGCTACAGGCGCGTGACTTCCCCTTGCTTTGGGGCGGGGGGCTGAGACTCCTATGTGCTCCGGATTGGTCAGGCACGGCCTTCGGCCCCGCCTCCTGCCACCGCAGATTGGCCGCTAGCCCTCCCCGAGCGCCCTGCCTCCGAGGGCCGGCGCACCATAAAAGAAGCCGCCCTAGCCACGTCCCCTCGCAGTTCGGCGGTCCCGCGGGTCTGTCTCTTGCTTCAACAGTGTTTGGACGGAACAGATCCGGGGACTCTCTTCCAGCCTCCGACCGCCCTCCGATTTCCTCTCCGCTTGCAACCTCCGGGACCATCTTCTCGGCCATCTCCTGCTTCTGGGACCTGCCAGCACCGTTTTTGTGGTTAGCTCCTTCTTGCCAACCAACCATGAGCTCCCAGATTCGTCAGAATTATTCCACCGACGTGGAGGCAGCCGTCAACAGCCTGGTCAATTTGTACCTGCAGGCCTCCTACACCTACCTCTCTCTGGTGAGTCCCCAGGACGCCCCTGGCCCTAATTTCCTCCAGCTGCGCACCTCCGGCCCTCACTGCACGCGCCAGCCTTCTTTGTGCGGTCGGGTAAACAGAGGGCGGAGTCCCCTTGGCCTCGCCTCCCGCTAACCATTGTTGCCTCCATCTCTTCCCGTAGGGCTTCTATTTCGACCGCGATGATGTGGCTCTGGAAGGCGTGAGCCACTTCTTCCGCGAATTGGCCGAGGAGAAGCGCGAGGGCTACGAGCGTCTCCTGAAGATGCAAAACCAGCGTGGCGGCCGCGCTCTCTTCCAGGACATCAAGGTAACTAGTGTGTGGGTAATGGACTACATCTCCCAGCAGGCCGTGCGCGCGAGGAGCCTTGATTTGAGGGCGTAGGTGTCGCGTGGGCTTCTGGGAGATTGAGTTCGGTCTTGTGAGCCCTCTTAACCGCTGGAAATAGAGGCGCACCTCGTGCAGTGCCCACAACACGCGGCAGTCCACACCGCTGCGTGGTCTTAGGGACGTATAGCTGTAAGAGCTAGGACAGGGTGCGGAGAGTGATAAATACAAGCTGTCACATGTCTTTGTGGCCTGGGCCTCTGACCCCCAACGACTCTTGGGAAATGTAGGTTTAGTTCTATGTGCCGAGTGTGTGTATTCTGAGCCATTTCTCCCTTCTATATAGAAGCCAGCTGAAGATGAGTGGGGTAAAACCCCAGACGCCATGAAAGCTGCCATGGCCCTGGAGAAAAAGCTGAACCAGGCCCTTTTGGATCTTCATGCCCTGGGTTCTGCCCGCACGGACCCCCATGTACGTACCCGCTGCATCCATGGCTACCCAACCATACCCCTCAAGCCTCTGCTCCCTTTGGGCAAATTTCCTTCAGAGCCTCATTTCACACCTGTCACATTTTAATCTGCAACTGGCTGCTCTCTCCCCCTCTTTTCCAGGGATTGGGTTTCTAATTTCTCCCTCTTCTCTCTCAGCTCTGTGACTTCCTGGAGACTCACTTCCTAGATGAGGAAGTGAAGCTTATCAAGAAGATGGGTGACCACCTGACCAACCTCCACAGGCTGGGTGGCCCGGAGGCTGGGCTGGGCTGGGCGAGTATCTCTTCGAAAGGCTCACTCTCAAGCACGACTAAGAGCCTTCTGAGCCCAGCGACTTCTGAAGGGCCCCTTGCAAAGTAATAGGGCTTCTGCCTAAGCCTCTCCCTCCAGCCAATAGGCAGCTTTCTTAACTATCCTAACAAGCCTTGGACCAAATGGAAATAAAGCTTTTTGATGCAGCTGGTGGTTTTGTGTGTGGTGTGGAAGATGAGGTGGGATCTGTTCTCATAAAGCTTCTGGCTGGGTTGGGATGCCAGTGAAAGAGGAGTTGGCCCCATCTCCCATTTTCTTAACTGTCCTAAGACAAGAGGCTATCTGGGTAGTGTTGAACCTGAGGGTTCTCTGCTTGCCTGGCTGTTAACTGTCCCTCCCAGATGGTAGAGATAGACTCCAGGGAGTTGAATTAAGACCTAGGTTGGTATCTAGAAACAGATGTTAGGTCTCAGCCAGAAACAGCCCTATTTAACGAGTGATTATGGGGCCAGGTGGGTCGCTCACCTGATGTCAGGAGTTCGAGACCAGCCTGACCAACATGAAGAAACCCCGTCTCTACTAAAATACAAAATTAGCTGGGTGTGGTGGCTCATACCTGTAATCCCAGCTAGTCAGGAGGTTGAGGTAGGAGAATCGCTTGAATCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATGGCGTCATTGCACTCCAGCCTGGGCAAAAAGAGTGGAACTCCCATCTCAAACAAAAAACATGTCTGCCTCACGGAAGTTGCGGTGAGCTGAGATGGCGCCACTGTGCTCCAGCTTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAGAAAAAAGCCTCAATTCTGGGAGGCAGTTGGAATTATTAGGCCCTTTATATGGGCACATTGACGCTATTGCTATGCAACTTGCATGGCAACCGGGGGGCTCACTGAGGTCTTTGCTCCAGAGTTTAAGAGATTATGGCCCGAGCTTGAGTGATCCCAATGTGAGGCGCACACTGAGAGGAACTGGCCAGTGGAGCTGAGCAGCCAGGAACACGTGATGCCCAAGCAATGCTGGACAAGGGGTTTAGGGTTCATCACAGAAATGGGATGTGAAACCTTGGGCCGGATTCTCCAAATGGGAACTGAAGAAGCTTAAAACAGGCCTTAAAAAGCACTTGCTGTGTCCAAGCTGCAAAACTGCTGTGTCAGCTCTGACTCTTCCCCTTCTCCTTCCCCTGGGTCTGGGGCAGGGTGGTTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGACGATCACTTGAGCCCAGGAGGTTGAGACCAGCCTAAGCAACATAGGGAGACCCCCCAAGTCTCTCTAGAATAAGAGGATGAGCTCAGACCAGGGAAGGGGTGGTACTGGGGGGACGTCACAGCCAGGCCCACCAAGTGTCATGTCTGACCACACCTGGGATTCTTAAATATAGATGTATTTTTTTCATCTCATCTCCGGACACACTCCAATCACACCCCTCCTGCCCTCCCCTCTCAACTGCAAACCAAGCGGTGCAGACACAGCACAGCACACATGAGGGGCCCTCCCTTTCACCAAAGCTGAAGGCAGGGCACAGTTTGGGGATGGAAGAGCCTCGAGGTAAATGTGGGGGTTCTAGAACCCAGTGACCTCAGTTCTGGATCATGGGAAAGGGATCAGTATGCAGTAACGTGGTAAGGTTCCAGATCTAGAAGCCAGGACCTAGAACCTAGTGGTTTCACAGTGGGCAGAGCAGTTGGGAATAAGCCAGGTTAGGGGTGGGGGAAGACAGCCAGCTCTGTCCTCTGCAGGCGGATTCCCTGGAGGGAGATCTCAGATTTAGAAAGGAAGAGTAGGATCTGGTCCAGAAAGGGCCAGAAAGACAGGAAGGCATCTGGACTGAGACTGTGTGTCCTCCAGAAGGAATGAGCAGCCAAGTGGTTCTACCACCTCTTGCTTGGCCAAAGTGTAGGGGATGACAGGAGCCGGATGGAGGGATCCTCCAGGCAGAGCCTGGCTCTGACATGCCAGGGAGG | pathogenic | 307,464 |
Regarding the variant at chromosome 19 and position 48985448, affecting gene GYS1 (glycogen synthase 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | TAACAGGGATCTGATCCACACTGGTGATTCTGGGAAAGTTGTACTTCTTTTGTTTCCTCTTAGCCCACCCTGAGATGGAAATGATTAAACATCCCCAAAGTCCTGCTTCTCCTAGGATATATCCTCTACTTCCAAGCTTCTTACAGGGACCCAATCATTTCTTCTCCTCATAGAAATTAAAGTATATCAACGAAAAACTACAACCCCCATCAGCGCCTAGGGCAAAGTTCTGGAACATATAGAGCTAACCAGTCAAAGGCCTTCTGGGAGTTGTAGTTCTCACCTTATACTCACTGAGAACGGATACTAAGGGCTGGGAAGAATGCCCAGTTCTGACCTAACCTTTCTCAAAAGCAAAGTCCACTGATCTTCCATTCCCTTTCATAAGACCAATCTACATTAGCCAATTACAGAATTTTATCATATCTGAAATTAATATGAAAGAAATTATACCTCCCATTAGCCTCCAGAGTATATAGTCAGAGAGCCTCAAATACAGGTCACCACCCCCACAGCCTTCTGGGAGCTGTAGTTCTCTATTCTTTAGGTAAAAAAATGGTAACTGATGGTCCCCAGCTTAGGACTTAGGATGGTCCAAGTTATGATTTTTCTTTTCGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTTGGCTCACGACAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGTGGCTGGGATTACAGGCGCCTGCCACCATGCCCACCTAATTTTTGTATTTTTGGCAGAGAGGGGGTCTCACAATGTTGGCCAGGCTGGTCTTGAGCACATGACCTCAGGTGATCTGCCCACCTCAGCCTTCCAAAGTGCTGGGATTACAGGTGTAAGCCACCGTGCCCAGCCAAGTTATGATTTTTCAACCTTATGATGGTGTGAAAGTTACATACATCCACATGAGTCCAATTTTGGATTTTGATGAGATATTCAACACTTTTTTTTTTTAATTTTTTGAGATGGAGTCTCGCTCTGTTGTCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCCCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCACCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCGCCATGTTGGCCAGGCTGGTCTCGATCTCCTGACCTCGTGATCTGCCCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACTGCGCCCAGCCTATTCAACACTTTATTATAAAATAGGTTTGTATTAAAATTAGCCAGGCGTGGTGGCAGGCGCGTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCGGAGCTTACAGTGAGCCAAGATAGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAATAAATAAATAAATAAAAATAAAATAAAACAGATTTGTATTGGATGATTTTGCCCAGTCGTAGGCTAACATAAAGTGTTCTGGGCACATTTAAGGTATACTAGCCTAAGCTATGATGTTCAGTAGGTTAGGTGTATTAAATGCATTTTTTTATTTTTTGAGACAGGGTCTCACTGTGTCACCCAGGCTGTGACAGGGTCTCTCCAGGCCACCCAAATCATGCAATGGCACGATCACAGCTCACTGCACCCTTGACCTCCTAGGCTCGAGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTAGGGATACAGGCACACACCATGTCTGGCGAATATTTTAGACAGGGATTCGCCATGTTGCCCAGGCTGGTCTCAAATTCCCGGGCTCAAGTGGTTCTCCTGCCTTGGCCTCTCAAAGTGCTGAGATTACAGGTGTGAGCCACCATGCCCAGCCGAAATACGTTTTCGGTTTATGCTATTTCAACTTACAGTGGGCTTCTTGGGCTGAGGAGCAACTGGCTTTGGCATAGACAGCTGCCTACCTCATTCACGTCTGGGGACTTCAGCCCAGCCCCTACCTGGTTTCCTCTTGAGCAAGTGCTGTGCCTCGATGGCGGTGATCTGGGACACAGTAGTGAAGACGTGAGCGCAGTGGGCTGCCGCCCTTTCCATGCAGTATCGGTGGTAGATCTGCCTCTCCCCTGCTTCCTTGTCCACGTTGAACTGGGTGGGAGGGGACAGCAGTCCGGTTAGAAGGATTGGGGAGAAGACTCTGGAGGTCCAGACACTGGGGTCCCAAGAGAAATTGGTGCTGGGGGCTGGATTCCTGGGTCTGAGGTAGGAGGGGTCTGGGGACTTGGACTCCTGGATCCTGGGAGAAGAGGGGGTGCCATCCCCTTGGGCCCCCCAGAGCTTTGGGTTTTCCTGGCATACTCGCAGTCCCCCATCTGCCACGGTCCCAGCTCACGTTCTCCAGGTTGTTGTAGAAGTCCACGGCACCGGCACACAGGTAGCGCCCCAGCAGCGTGGCATGGGTGGTGAAGATGGTTGCTACAGGCAGTCGCCGGGCACGACACAGGCAGAGTCCAACGCCTGCCAACCACTCATGGAAGTGAGCAACCACATGTGGCTTCTCCTCACTCTGTGCCAGGAACTGTGGGCAACAGGGACAGGGCCACTGTCTCCACGAGTGTTGGGAAAAGAATCGGCAATCCCCAGTAGGGACAAGGACTCGGGGAGAGGTCAATCTGTCACCACTACTGCACAGAGTGGGCAGCGGCCCACTGCAGCAATCCCAACCGGACAGGGACCTGTAAATCCCTGAGGCAGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGACTGCCTCCTCAGGGGTTGACAGGAACTGAGGATTTTTTGGCCAACCATCTAAGTCCTGGCAGGGTTAGATTGGACAGACTGAAGTTTTCATGTTCCCAGGTCCTGGACATAGTTTCCAAAGACCCCTTGTCTCAAGGGTACGCTGTCTGCACCCAACATTGGCAAAGGGACTACAACTCCCAGAATGCCATAGGAGCAGCCAGTTCCTCAATTATTTGTCCCAGGGCATGAGAAATTAAGCTTCTTTTTTTTTTTTTCTTTTTCTTTTTTTTTTTGAGACAGTGTCTCACTCTGTGGCCCAGGCTGGAGTGCCGTGATGCAATCTCAGCTCACTGCAATTCCCGCCTCCCAGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTTGGGATTACAGGTGCCCACCACCACACCCAGCTAATTTTTTTGTATGTTTAGTAAAGACGAGGTTTGGCCATCTTGAACTCCTGGCCTCACGTGATCTTCCCCCATCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCTGGAAACTAAGCTTCTTGAGCCTCTTAAAACCTAGAAGGGGGTCAAAACCAGGTCAGGCTGGGGATTCATGAGCATCCAGGGCAGCATCTGAGAGCTGAGTCCAGCAATATCACACTAGAGAACTACAACTCCTAGAATTCCTCGGGCAAGCCCGCCAGCCTCACTTTGAGGCTGATTCCAAGAATCCCTATGCTTGGAAGACTAGAGTAAATGAAGTTGGCATCGAGAGTAGAGCCTGGGCCCTTGGATGTTCATGTCCTCAAAGGCCAGAGCTAATCCTTGGATTAAAGGACCCTATGACTCCCAGAATGCCCAGGGAGAAGCCCATCCTCTGGCCCAGGGGCTGATGGTCATTGTAGTTTCAGGTATGGGTGGAATGTGTCAGACGGGGCCTACCTCACCCAGGAACCAGGTGGTCAGAAAGCCAAAGAGGACAGCGTCGTTGGCCTCGCGGTCGTACCACGGCACTCCGATGTTGCAGGTATCCCAGAGCTCTCCCTTCCAGCGCTCCAGGGCCCAAGCTGAGGCACCCACGTCCAGGAGCACCACCAGAGGGCCTCCCTCGATCAGCCAGCGCCCGAAATACACCTGGGATGGGGTTGGGGAGGCACCATAGGGAGGCTCTGGGCTTCAGCCTCATATCTTCACTCATCCGTGGTTCTCCCATTTGCAGGCAGATGTCTATAGACTTAAGCCTC | TAACAGGGATCTGATCCACACTGGTGATTCTGGGAAAGTTGTACTTCTTTTGTTTCCTCTTAGCCCACCCTGAGATGGAAATGATTAAACATCCCCAAAGTCCTGCTTCTCCTAGGATATATCCTCTACTTCCAAGCTTCTTACAGGGACCCAATCATTTCTTCTCCTCATAGAAATTAAAGTATATCAACGAAAAACTACAACCCCCATCAGCGCCTAGGGCAAAGTTCTGGAACATATAGAGCTAACCAGTCAAAGGCCTTCTGGGAGTTGTAGTTCTCACCTTATACTCACTGAGAACGGATACTAAGGGCTGGGAAGAATGCCCAGTTCTGACCTAACCTTTCTCAAAAGCAAAGTCCACTGATCTTCCATTCCCTTTCATAAGACCAATCTACATTAGCCAATTACAGAATTTTATCATATCTGAAATTAATATGAAAGAAATTATACCTCCCATTAGCCTCCAGAGTATATAGTCAGAGAGCCTCAAATACAGGTCACCACCCCCACAGCCTTCTGGGAGCTGTAGTTCTCTATTCTTTAGGTAAAAAAATGGTAACTGATGGTCCCCAGCTTAGGACTTAGGATGGTCCAAGTTATGATTTTTCTTTTCGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTTGGCTCACGACAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGTGGCTGGGATTACAGGCGCCTGCCACCATGCCCACCTAATTTTTGTATTTTTGGCAGAGAGGGGGTCTCACAATGTTGGCCAGGCTGGTCTTGAGCACATGACCTCAGGTGATCTGCCCACCTCAGCCTTCCAAAGTGCTGGGATTACAGGTGTAAGCCACCGTGCCCAGCCAAGTTATGATTTTTCAACCTTATGATGGTGTGAAAGTTACATACATCCACATGAGTCCAATTTTGGATTTTGATGAGATATTCAACACTTTTTTTTTTTAATTTTTTGAGATGGAGTCTCGCTCTGTTGTCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCCCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCACCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCGCCATGTTGGCCAGGCTGGTCTCGATCTCCTGACCTCGTGATCTGCCCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACTGCGCCCAGCCTATTCAACACTTTATTATAAAATAGGTTTGTATTAAAATTAGCCAGGCGTGGTGGCAGGCGCGTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCGGAGCTTACAGTGAGCCAAGATAGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAATAAATAAATAAATAAAAATAAAATAAAACAGATTTGTATTGGATGATTTTGCCCAGTCGTAGGCTAACATAAAGTGTTCTGGGCACATTTAAGGTATACTAGCCTAAGCTATGATGTTCAGTAGGTTAGGTGTATTAAATGCATTTTTTTATTTTTTGAGACAGGGTCTCACTGTGTCACCCAGGCTGTGACAGGGTCTCTCCAGGCCACCCAAATCATGCAATGGCACGATCACAGCTCACTGCACCCTTGACCTCCTAGGCTCGAGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTAGGGATACAGGCACACACCATGTCTGGCGAATATTTTAGACAGGGATTCGCCATGTTGCCCAGGCTGGTCTCAAATTCCCGGGCTCAAGTGGTTCTCCTGCCTTGGCCTCTCAAAGTGCTGAGATTACAGGTGTGAGCCACCATGCCCAGCCGAAATACGTTTTCGGTTTATGCTATTTCAACTTACAGTGGGCTTCTTGGGCTGAGGAGCAACTGGCTTTGGCATAGACAGCTGCCTACCTCATTCACGTCTGGGGACTTCAGCAGCCCCTACCTGGTTTCCTCTTGAGCAAGTGCTGTGCCTCGATGGCGGTGATCTGGGACACAGTAGTGAAGACGTGAGCGCAGTGGGCTGCCGCCCTTTCCATGCAGTATCGGTGGTAGATCTGCCTCTCCCCTGCTTCCTTGTCCACGTTGAACTGGGTGGGAGGGGACAGCAGTCCGGTTAGAAGGATTGGGGAGAAGACTCTGGAGGTCCAGACACTGGGGTCCCAAGAGAAATTGGTGCTGGGGGCTGGATTCCTGGGTCTGAGGTAGGAGGGGTCTGGGGACTTGGACTCCTGGATCCTGGGAGAAGAGGGGGTGCCATCCCCTTGGGCCCCCCAGAGCTTTGGGTTTTCCTGGCATACTCGCAGTCCCCCATCTGCCACGGTCCCAGCTCACGTTCTCCAGGTTGTTGTAGAAGTCCACGGCACCGGCACACAGGTAGCGCCCCAGCAGCGTGGCATGGGTGGTGAAGATGGTTGCTACAGGCAGTCGCCGGGCACGACACAGGCAGAGTCCAACGCCTGCCAACCACTCATGGAAGTGAGCAACCACATGTGGCTTCTCCTCACTCTGTGCCAGGAACTGTGGGCAACAGGGACAGGGCCACTGTCTCCACGAGTGTTGGGAAAAGAATCGGCAATCCCCAGTAGGGACAAGGACTCGGGGAGAGGTCAATCTGTCACCACTACTGCACAGAGTGGGCAGCGGCCCACTGCAGCAATCCCAACCGGACAGGGACCTGTAAATCCCTGAGGCAGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGACTGCCTCCTCAGGGGTTGACAGGAACTGAGGATTTTTTGGCCAACCATCTAAGTCCTGGCAGGGTTAGATTGGACAGACTGAAGTTTTCATGTTCCCAGGTCCTGGACATAGTTTCCAAAGACCCCTTGTCTCAAGGGTACGCTGTCTGCACCCAACATTGGCAAAGGGACTACAACTCCCAGAATGCCATAGGAGCAGCCAGTTCCTCAATTATTTGTCCCAGGGCATGAGAAATTAAGCTTCTTTTTTTTTTTTTCTTTTTCTTTTTTTTTTTGAGACAGTGTCTCACTCTGTGGCCCAGGCTGGAGTGCCGTGATGCAATCTCAGCTCACTGCAATTCCCGCCTCCCAGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTTGGGATTACAGGTGCCCACCACCACACCCAGCTAATTTTTTTGTATGTTTAGTAAAGACGAGGTTTGGCCATCTTGAACTCCTGGCCTCACGTGATCTTCCCCCATCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCTGGAAACTAAGCTTCTTGAGCCTCTTAAAACCTAGAAGGGGGTCAAAACCAGGTCAGGCTGGGGATTCATGAGCATCCAGGGCAGCATCTGAGAGCTGAGTCCAGCAATATCACACTAGAGAACTACAACTCCTAGAATTCCTCGGGCAAGCCCGCCAGCCTCACTTTGAGGCTGATTCCAAGAATCCCTATGCTTGGAAGACTAGAGTAAATGAAGTTGGCATCGAGAGTAGAGCCTGGGCCCTTGGATGTTCATGTCCTCAAAGGCCAGAGCTAATCCTTGGATTAAAGGACCCTATGACTCCCAGAATGCCCAGGGAGAAGCCCATCCTCTGGCCCAGGGGCTGATGGTCATTGTAGTTTCAGGTATGGGTGGAATGTGTCAGACGGGGCCTACCTCACCCAGGAACCAGGTGGTCAGAAAGCCAAAGAGGACAGCGTCGTTGGCCTCGCGGTCGTACCACGGCACTCCGATGTTGCAGGTATCCCAGAGCTCTCCCTTCCAGCGCTCCAGGGCCCAAGCTGAGGCACCCACGTCCAGGAGCACCACCAGAGGGCCTCCCTCGATCAGCCAGCGCCCGAAATACACCTGGGATGGGGTTGGGGAGGCACCATAGGGAGGCTCTGGGCTTCAGCCTCATATCTTCACTCATCCGTGGTTCTCCCATTTGCAGGCAGATGTCTATAGACTTAAGCCTCNN | benign | 307,507 |
Is the variant located on chromosome 19 at position 48985620, gene GYS1 (glycogen synthase 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | GAAATTAAAGTATATCAACGAAAAACTACAACCCCCATCAGCGCCTAGGGCAAAGTTCTGGAACATATAGAGCTAACCAGTCAAAGGCCTTCTGGGAGTTGTAGTTCTCACCTTATACTCACTGAGAACGGATACTAAGGGCTGGGAAGAATGCCCAGTTCTGACCTAACCTTTCTCAAAAGCAAAGTCCACTGATCTTCCATTCCCTTTCATAAGACCAATCTACATTAGCCAATTACAGAATTTTATCATATCTGAAATTAATATGAAAGAAATTATACCTCCCATTAGCCTCCAGAGTATATAGTCAGAGAGCCTCAAATACAGGTCACCACCCCCACAGCCTTCTGGGAGCTGTAGTTCTCTATTCTTTAGGTAAAAAAATGGTAACTGATGGTCCCCAGCTTAGGACTTAGGATGGTCCAAGTTATGATTTTTCTTTTCGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTTGGCTCACGACAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGTGGCTGGGATTACAGGCGCCTGCCACCATGCCCACCTAATTTTTGTATTTTTGGCAGAGAGGGGGTCTCACAATGTTGGCCAGGCTGGTCTTGAGCACATGACCTCAGGTGATCTGCCCACCTCAGCCTTCCAAAGTGCTGGGATTACAGGTGTAAGCCACCGTGCCCAGCCAAGTTATGATTTTTCAACCTTATGATGGTGTGAAAGTTACATACATCCACATGAGTCCAATTTTGGATTTTGATGAGATATTCAACACTTTTTTTTTTTAATTTTTTGAGATGGAGTCTCGCTCTGTTGTCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCCCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCACCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCGCCATGTTGGCCAGGCTGGTCTCGATCTCCTGACCTCGTGATCTGCCCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACTGCGCCCAGCCTATTCAACACTTTATTATAAAATAGGTTTGTATTAAAATTAGCCAGGCGTGGTGGCAGGCGCGTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCGGAGCTTACAGTGAGCCAAGATAGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAATAAATAAATAAATAAAAATAAAATAAAACAGATTTGTATTGGATGATTTTGCCCAGTCGTAGGCTAACATAAAGTGTTCTGGGCACATTTAAGGTATACTAGCCTAAGCTATGATGTTCAGTAGGTTAGGTGTATTAAATGCATTTTTTTATTTTTTGAGACAGGGTCTCACTGTGTCACCCAGGCTGTGACAGGGTCTCTCCAGGCCACCCAAATCATGCAATGGCACGATCACAGCTCACTGCACCCTTGACCTCCTAGGCTCGAGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTAGGGATACAGGCACACACCATGTCTGGCGAATATTTTAGACAGGGATTCGCCATGTTGCCCAGGCTGGTCTCAAATTCCCGGGCTCAAGTGGTTCTCCTGCCTTGGCCTCTCAAAGTGCTGAGATTACAGGTGTGAGCCACCATGCCCAGCCGAAATACGTTTTCGGTTTATGCTATTTCAACTTACAGTGGGCTTCTTGGGCTGAGGAGCAACTGGCTTTGGCATAGACAGCTGCCTACCTCATTCACGTCTGGGGACTTCAGCCCAGCCCCTACCTGGTTTCCTCTTGAGCAAGTGCTGTGCCTCGATGGCGGTGATCTGGGACACAGTAGTGAAGACGTGAGCGCAGTGGGCTGCCGCCCTTTCCATGCAGTATCGGTGGTAGATCTGCCTCTCCCCTGCTTCCTTGTCCACGTTGAACTGGGTGGGAGGGGACAGCAGTCCGGTTAGAAGGATTGGGGAGAAGACTCTGGAGGTCCAGACACTGGGGTCCCAAGAGAAATTGGTGCTGGGGGCTGGATTCCTGGGTCTGAGGTAGGAGGGGTCTGGGGACTTGGACTCCTGGATCCTGGGAGAAGAGGGGGTGCCATCCCCTTGGGCCCCCCAGAGCTTTGGGTTTTCCTGGCATACTCGCAGTCCCCCATCTGCCACGGTCCCAGCTCACGTTCTCCAGGTTGTTGTAGAAGTCCACGGCACCGGCACACAGGTAGCGCCCCAGCAGCGTGGCATGGGTGGTGAAGATGGTTGCTACAGGCAGTCGCCGGGCACGACACAGGCAGAGTCCAACGCCTGCCAACCACTCATGGAAGTGAGCAACCACATGTGGCTTCTCCTCACTCTGTGCCAGGAACTGTGGGCAACAGGGACAGGGCCACTGTCTCCACGAGTGTTGGGAAAAGAATCGGCAATCCCCAGTAGGGACAAGGACTCGGGGAGAGGTCAATCTGTCACCACTACTGCACAGAGTGGGCAGCGGCCCACTGCAGCAATCCCAACCGGACAGGGACCTGTAAATCCCTGAGGCAGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGACTGCCTCCTCAGGGGTTGACAGGAACTGAGGATTTTTTGGCCAACCATCTAAGTCCTGGCAGGGTTAGATTGGACAGACTGAAGTTTTCATGTTCCCAGGTCCTGGACATAGTTTCCAAAGACCCCTTGTCTCAAGGGTACGCTGTCTGCACCCAACATTGGCAAAGGGACTACAACTCCCAGAATGCCATAGGAGCAGCCAGTTCCTCAATTATTTGTCCCAGGGCATGAGAAATTAAGCTTCTTTTTTTTTTTTTCTTTTTCTTTTTTTTTTTGAGACAGTGTCTCACTCTGTGGCCCAGGCTGGAGTGCCGTGATGCAATCTCAGCTCACTGCAATTCCCGCCTCCCAGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTTGGGATTACAGGTGCCCACCACCACACCCAGCTAATTTTTTTGTATGTTTAGTAAAGACGAGGTTTGGCCATCTTGAACTCCTGGCCTCACGTGATCTTCCCCCATCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCTGGAAACTAAGCTTCTTGAGCCTCTTAAAACCTAGAAGGGGGTCAAAACCAGGTCAGGCTGGGGATTCATGAGCATCCAGGGCAGCATCTGAGAGCTGAGTCCAGCAATATCACACTAGAGAACTACAACTCCTAGAATTCCTCGGGCAAGCCCGCCAGCCTCACTTTGAGGCTGATTCCAAGAATCCCTATGCTTGGAAGACTAGAGTAAATGAAGTTGGCATCGAGAGTAGAGCCTGGGCCCTTGGATGTTCATGTCCTCAAAGGCCAGAGCTAATCCTTGGATTAAAGGACCCTATGACTCCCAGAATGCCCAGGGAGAAGCCCATCCTCTGGCCCAGGGGCTGATGGTCATTGTAGTTTCAGGTATGGGTGGAATGTGTCAGACGGGGCCTACCTCACCCAGGAACCAGGTGGTCAGAAAGCCAAAGAGGACAGCGTCGTTGGCCTCGCGGTCGTACCACGGCACTCCGATGTTGCAGGTATCCCAGAGCTCTCCCTTCCAGCGCTCCAGGGCCCAAGCTGAGGCACCCACGTCCAGGAGCACCACCAGAGGGCCTCCCTCGATCAGCCAGCGCCCGAAATACACCTGGGATGGGGTTGGGGAGGCACCATAGGGAGGCTCTGGGCTTCAGCCTCATATCTTCACTCATCCGTGGTTCTCCCATTTGCAGGCAGATGTCTATAGACTTAAGCCTCAGCTCTCTTATCTTCTGTTTCCATATCTGCTGCTAATTTCTCACCTGCTGCCTTAGCCTTACTTCTCTATTTGCATGATTTATTCCTGCTACACATTTTTTCCATCTCTGTTGCAATATTTTCCGTGCCCCCTGCTTACTTTCTTTCTTTCTTTTTTTTGAGATGGAGTCTC | GAAATTAAAGTATATCAACGAAAAACTACAACCCCCATCAGCGCCTAGGGCAAAGTTCTGGAACATATAGAGCTAACCAGTCAAAGGCCTTCTGGGAGTTGTAGTTCTCACCTTATACTCACTGAGAACGGATACTAAGGGCTGGGAAGAATGCCCAGTTCTGACCTAACCTTTCTCAAAAGCAAAGTCCACTGATCTTCCATTCCCTTTCATAAGACCAATCTACATTAGCCAATTACAGAATTTTATCATATCTGAAATTAATATGAAAGAAATTATACCTCCCATTAGCCTCCAGAGTATATAGTCAGAGAGCCTCAAATACAGGTCACCACCCCCACAGCCTTCTGGGAGCTGTAGTTCTCTATTCTTTAGGTAAAAAAATGGTAACTGATGGTCCCCAGCTTAGGACTTAGGATGGTCCAAGTTATGATTTTTCTTTTCGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTTGGCTCACGACAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGTGGCTGGGATTACAGGCGCCTGCCACCATGCCCACCTAATTTTTGTATTTTTGGCAGAGAGGGGGTCTCACAATGTTGGCCAGGCTGGTCTTGAGCACATGACCTCAGGTGATCTGCCCACCTCAGCCTTCCAAAGTGCTGGGATTACAGGTGTAAGCCACCGTGCCCAGCCAAGTTATGATTTTTCAACCTTATGATGGTGTGAAAGTTACATACATCCACATGAGTCCAATTTTGGATTTTGATGAGATATTCAACACTTTTTTTTTTTAATTTTTTGAGATGGAGTCTCGCTCTGTTGTCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCCCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCACCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCGCCATGTTGGCCAGGCTGGTCTCGATCTCCTGACCTCGTGATCTGCCCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACTGCGCCCAGCCTATTCAACACTTTATTATAAAATAGGTTTGTATTAAAATTAGCCAGGCGTGGTGGCAGGCGCGTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCGGAGCTTACAGTGAGCCAAGATAGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAATAAATAAATAAATAAAAATAAAATAAAACAGATTTGTATTGGATGATTTTGCCCAGTCGTAGGCTAACATAAAGTGTTCTGGGCACATTTAAGGTATACTAGCCTAAGCTATGATGTTCAGTAGGTTAGGTGTATTAAATGCATTTTTTTATTTTTTGAGACAGGGTCTCACTGTGTCACCCAGGCTGTGACAGGGTCTCTCCAGGCCACCCAAATCATGCAATGGCACGATCACAGCTCACTGCACCCTTGACCTCCTAGGCTCGAGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTAGGGATACAGGCACACACCATGTCTGGCGAATATTTTAGACAGGGATTCGCCATGTTGCCCAGGCTGGTCTCAAATTCCCGGGCTCAAGTGGTTCTCCTGCCTTGGCCTCTCAAAGTGCTGAGATTACAGGTGTGAGCCACCATGCCCAGCCGAAATACGTTTTCGGTTTATGCTATTTCAACTTACAGTGGGCTTCTTGGGCTGAGGAGCAACTGGCTTTGGCATAGACAGCTGCCTACCTCATTCACGTCTGGGGACTTCAGCCCAGCCCCTACCTGGTTTCCTCTTGAGCAAGTGCTGTGCCTCGATGGCGGTGATCTGGGACACAGTAGTGAAGACGTGAGCGCAGTGGGCTGCCGCCCTTTCCATGCAGTATCGGTGGTAGATCTGCCTCTCCCCTGCTTCCTTGTCCACGTTGAACTGGGTGGGAGGGGAAGCAGTCCGGTTAGAAGGATTGGGGAGAAGACTCTGGAGGTCCAGACACTGGGGTCCCAAGAGAAATTGGTGCTGGGGGCTGGATTCCTGGGTCTGAGGTAGGAGGGGTCTGGGGACTTGGACTCCTGGATCCTGGGAGAAGAGGGGGTGCCATCCCCTTGGGCCCCCCAGAGCTTTGGGTTTTCCTGGCATACTCGCAGTCCCCCATCTGCCACGGTCCCAGCTCACGTTCTCCAGGTTGTTGTAGAAGTCCACGGCACCGGCACACAGGTAGCGCCCCAGCAGCGTGGCATGGGTGGTGAAGATGGTTGCTACAGGCAGTCGCCGGGCACGACACAGGCAGAGTCCAACGCCTGCCAACCACTCATGGAAGTGAGCAACCACATGTGGCTTCTCCTCACTCTGTGCCAGGAACTGTGGGCAACAGGGACAGGGCCACTGTCTCCACGAGTGTTGGGAAAAGAATCGGCAATCCCCAGTAGGGACAAGGACTCGGGGAGAGGTCAATCTGTCACCACTACTGCACAGAGTGGGCAGCGGCCCACTGCAGCAATCCCAACCGGACAGGGACCTGTAAATCCCTGAGGCAGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGACTGCCTCCTCAGGGGTTGACAGGAACTGAGGATTTTTTGGCCAACCATCTAAGTCCTGGCAGGGTTAGATTGGACAGACTGAAGTTTTCATGTTCCCAGGTCCTGGACATAGTTTCCAAAGACCCCTTGTCTCAAGGGTACGCTGTCTGCACCCAACATTGGCAAAGGGACTACAACTCCCAGAATGCCATAGGAGCAGCCAGTTCCTCAATTATTTGTCCCAGGGCATGAGAAATTAAGCTTCTTTTTTTTTTTTTCTTTTTCTTTTTTTTTTTGAGACAGTGTCTCACTCTGTGGCCCAGGCTGGAGTGCCGTGATGCAATCTCAGCTCACTGCAATTCCCGCCTCCCAGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTTGGGATTACAGGTGCCCACCACCACACCCAGCTAATTTTTTTGTATGTTTAGTAAAGACGAGGTTTGGCCATCTTGAACTCCTGGCCTCACGTGATCTTCCCCCATCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCTGGAAACTAAGCTTCTTGAGCCTCTTAAAACCTAGAAGGGGGTCAAAACCAGGTCAGGCTGGGGATTCATGAGCATCCAGGGCAGCATCTGAGAGCTGAGTCCAGCAATATCACACTAGAGAACTACAACTCCTAGAATTCCTCGGGCAAGCCCGCCAGCCTCACTTTGAGGCTGATTCCAAGAATCCCTATGCTTGGAAGACTAGAGTAAATGAAGTTGGCATCGAGAGTAGAGCCTGGGCCCTTGGATGTTCATGTCCTCAAAGGCCAGAGCTAATCCTTGGATTAAAGGACCCTATGACTCCCAGAATGCCCAGGGAGAAGCCCATCCTCTGGCCCAGGGGCTGATGGTCATTGTAGTTTCAGGTATGGGTGGAATGTGTCAGACGGGGCCTACCTCACCCAGGAACCAGGTGGTCAGAAAGCCAAAGAGGACAGCGTCGTTGGCCTCGCGGTCGTACCACGGCACTCCGATGTTGCAGGTATCCCAGAGCTCTCCCTTCCAGCGCTCCAGGGCCCAAGCTGAGGCACCCACGTCCAGGAGCACCACCAGAGGGCCTCCCTCGATCAGCCAGCGCCCGAAATACACCTGGGATGGGGTTGGGGAGGCACCATAGGGAGGCTCTGGGCTTCAGCCTCATATCTTCACTCATCCGTGGTTCTCCCATTTGCAGGCAGATGTCTATAGACTTAAGCCTCAGCTCTCTTATCTTCTGTTTCCATATCTGCTGCTAATTTCTCACCTGCTGCCTTAGCCTTACTTCTCTATTTGCATGATTTATTCCTGCTACACATTTTTTCCATCTCTGTTGCAATATTTTCCGTGCCCCCTGCTTACTTTCTTTCTTTCTTTTTTTTGAGATGGAGTCTCN | benign | 307,510 |
Does the genetic variant at chromosome 19, position 48991438, impacting gene GYS1 (glycogen synthase 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Glycogen_storage_disease_due_to_muscle_and_heart_glycogen_synthase_deficiency'] | GAGAATTGCTTGAACGCGGGAGGCGGAGGTTGCAGTGAGTCGAGATTGTACCACTGCACTCCAGACTCAGCGACAGAGTGAGATTCTATCTGAAAAAAAAAAAAAAAAAATTATGGCTCACTACAGCCTCCACATCCCATCCTCCCACCTCAGCCTCCTGAGTAACTGGGATCACGAGCACGCACCATCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCGCCATGTTGCCCAGGTGGGTCAGGAACTCCTGGGCTCAAGCTATCCTCTCACCTCGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCACCGCCCTCGGCCACGCCACACATTTCTAACATAGCCCATCCTCTGTCCGTGCCCCAGGGCTGCATTTTTCTAGCCACTGCCGTGTTTCTAAGACTTGCTGTCTCACTTCTGCCTCTGCCACATTTCTCCAGTTGGCTGTTTTCCTCCCTGAGACCATGGCTTTGGTTCTGGGCCTGCTGCCACAGCAGTGGAGAAGCAGCCCCGCTCCTCGCCGACCTGGCTTTTTGCTGCCTGGAGCCTCGCTCTGAGGTCCCTCCCCCTCCCAGCTGTTGTCTGCCCTTTTGCTGGGGGGGGGGGGGGGCTATTCTTAGGCCCCCAGCACGTGGGAAGCAGCTGCCCTCAGGAAGCGACTGGGCTGTTCTGGGTTCCCTTAGGGACACAGTCGGACCTGAATGGATTCCAGACCCCACCCCAAACCAGAGGCTGTGAATGAGTAAAGGAACCACAGTGCCTCTCCATCCCCAGCCTGGACCTGTCTGTCCCTTAGCCCTGCCGCCTGATGGCTTTCTCCTTGGACAACAGCGTGCCGCCTGATGGCTTTCTCCTTGGACAACAGCGTGTCTCTTTCCGTCTTCACCCTGGGGCCCTGGAACTCCCCCTCCTCTCTAATCCCTGATCTGCCCATCTCAGACTCTGTCCTGTGGGTCTGTCCACTGACCTCTCCTCTCTTCCCCGATATTCCATGCTTCTCTCTCCTTCTAGGACTGGCTTTCTGAAACATCTGGTGGCCTCTCTTCTGTCCCCAGTCTATTACTCTTGCCTGTGGCTCCATCCACCCTTCTCCCTTGGTCTGCCTGTCCCCCTCACTCTCCAAGCTTGGCTGTTAGTAACAATAATGACGATGATCATAACAATGACAATCACCGCCCACACAATGTGCTACCTTCATGCCAAGAACTCTACTAACCACTTTGTCCTTATTAACTGTTTCCTCCTCCCAGCACCGCTAGAAGGTAGACGCTATTAGCATGTCCATTAGCCAAGGACACACAGGCAGCAAGTGGAGGGTGAACTTGAACTTCAAGCTCCAGAATCCTGCTCCTTCCTGACCTCAGGCCCACTTCTCCCCAGCTCTGCCTGGCTGGCTGGCATTCTTTTCTGAGACAGAGTCTCGCTCCGTCGCCCAGGCTGGAGTGCAGTGGCCCAATCGCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCCAGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCGCCATGTTGACCAGGCTGTCTTTCGATCTTGCTCTCTTTCTCTCTGGGTCTGAGGACCTTGGCCTCTTGGATCTCCGTCTCAGTCTGTCTCATACTTGCCATCTGTCTGTCCATTCGCCCATGTCTGGGATCCACCCACCCACTTCCAGGCCCTGCATCTGTCTGGGTGTCCTATCACGCCTCCTTCCTGTGTCCAAGCCTGCCTCGCTCTCTGGCTGGGGCTGTCCACCCTGCACCCTCTCCGTCTGTGGCTCCCACCCCGATGGCAGGCTGTCCACCCGCTTCTGCCCTGGGCTGGGCCACGTCCCACCTTGCAGCCCTTGCTGTTCATGGAATCCAGTGTCCTCTTCAGGGCCGGGGTGGGGGCCTCCAGCAGTTCCACCTGGGTCCTCACGCCCTGCTCCGTGTACGGCCCCACCAGGAAGTAGTTGTCGCCCCATTCGTCCCCTGTCACCTTCGCCTTCGTCTGCAGCACCGTGTAGATGCCACCCACTGTGGGCCCAAGCGTGTGAGGGCAGGCCCCGGCCGAGGTCCATAGTTCTGGGGCCTGGGGTGGGGTGGGCCGGGGATGTAGGGGGCACTCAGGCCCCAGACCTCTAGCTCAGGGGGAAGAGGGGACTGGGAGCCCATAGTTTGGAGTAGGGGTTGGAAGCTTGGATGAGGGGAACACGAGGGCTGGAGGGCAGTCCTCCTGGGTCTAAGGGAGAAGGGGGCTGGGGTCAGGACCCTGAAGGAGGAGGGGGCTCAGGCTAGACTTCTGGGTCTGAGAGAGAAGGGGCTGGGTGCCGGGACCCCTTGGTCTGAAGGAATTAGGCACTGGGGCTCTAAGGATGGCAGAGCTGAGGACTGACTACCCGGACTCAGGTTCCCGAGTTCCCAGCTCACAGGAGCTGGGTTTAAATCGCAGCCAGGCTCCAAAACCCAGTGAGGGAGACCCCCTCATGGCCAATCCAGCTTCTCACCATTGCCCAAGAGAAGCCTGCATGGTCATTCCCTGCCCCCAGGGACCTTGCTGACCTGCCTCCCAATTTCCTCTCCCTGACTAGGGACACCAGCATGCAGGGCTCTGCCTCTCCCATGACCCTATCCCAGACCCAGGAGCCCCAGCCCCCAGCCTCCTCCCATCCTGGAGCCCAGGCCCTGGCGATACCCGGCTGGGTGTTCACGGGCCCCCTCTCCTCCTGGGAGACACAGTCCCTTTCTCCTCCAAGACCCAGCAAAGCAACCCCCCAGACCCTGCTCTTTGAGGTGTGAGATTGGCTTGTTCCTGGGGATTTCAGCCCCAGCCTTCTCCAAGGCCAGAACCTCAGCTTTCTGAAGCCCAAGACACAGAAATGCAGGCTCCTAGCCCCTCCCATCCTAGGGCCCAGCCTCTGACTAACTTAGGACTTCCCAGCCTTCCCCTATTCCAGTACGCATGTGTCCCAGGCCATGGGCTCCTCTACTCCTAGGAACTAATAGCTCAGGCCCTCAGCTCCTTCAAAGCCCAGGCATTCATTACAGTCTCCAGCCCGTCCCATCTTTATTCTTAAGCAGCCAGATCCTCAGGTCCTCCCACCGCCGCTCAGGCCTCCTATCTCCCAGTCAGCTCTCTCTCAAATCTGGAGTTTTATCCCCTAGACCATGCTGTTAGGGTCATAGGTCTGAAACCCCGGCAGCTTCCCAGGTTTGCACGCAGAAATCCCATCCCCCCATCCCCTTCCCTGTTCAGGACCCAGGTATCTAGTCTCTCGGAAGCCTGCCTCCAGGACCTAGGAGTCTCATTTTAGCGCCCTCTTCCCTAGGACCCAGAACCCGGGCTTCCAGCCTCCTTTCATCTTAAGTCAAACGAACCATCCCTCTCCCACCCACCTCCGGCTTCCCAGCCCCTCCTCAAGGACACAGCCTCCTTGCCCAGGTCACAAGGGTTCCCCTAGTAGCCCCGTCCTCCTACAACTCAGAGTTCCGGGCCCCCATCCACTACTGTCCTTCTCGTCAAGGGCCCCGACGCCTGGCGTGCTCACCCTTGTTAGCCACCTCCCAGGCCACTTCGAAGAGCACTGCGTTCTCCAGGTCGAATTCATCCTCCCAGTCCTCCAGTCCTGGCAGTGAGGACATGGACAAAGTGCGGTTTAAAGGCATGGCTGGCGCAGGAAGGGGGGCTCCGGGGATCTCCAGGTAGGGACCCCGGAGGTGTCTAGGGAATGCACCAGGTAGGGTGCGGGGCCGAGTAGCTGGTGCCCGACGGGAAGCTTGCAAGACGCTCGGCTTCCTATTGCAAGACCGCACCCCTGCCCCGAAGCGTTGGGACCTAGGCAGAAGGAGGCCGCAGCGTCACTGAGCCCACTGGCGCCCCTGCAGTGAAACCTCGCAGCCGCCAGGAGGCGGTGGCCGCCCCCCCCAGCCAGCGCCATTGGCCCACGCCCGGGGGCGGGGATTTCCGCGTGTCCTCATTGGTGGAACGGGTTGGAGTCGCTGTGTCCCGGCCCCGCCTCGGCCGTGAGACCTCCAGGGG | GAGAATTGCTTGAACGCGGGAGGCGGAGGTTGCAGTGAGTCGAGATTGTACCACTGCACTCCAGACTCAGCGACAGAGTGAGATTCTATCTGAAAAAAAAAAAAAAAAAATTATGGCTCACTACAGCCTCCACATCCCATCCTCCCACCTCAGCCTCCTGAGTAACTGGGATCACGAGCACGCACCATCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCGCCATGTTGCCCAGGTGGGTCAGGAACTCCTGGGCTCAAGCTATCCTCTCACCTCGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCACCGCCCTCGGCCACGCCACACATTTCTAACATAGCCCATCCTCTGTCCGTGCCCCAGGGCTGCATTTTTCTAGCCACTGCCGTGTTTCTAAGACTTGCTGTCTCACTTCTGCCTCTGCCACATTTCTCCAGTTGGCTGTTTTCCTCCCTGAGACCATGGCTTTGGTTCTGGGCCTGCTGCCACAGCAGTGGAGAAGCAGCCCCGCTCCTCGCCGACCTGGCTTTTTGCTGCCTGGAGCCTCGCTCTGAGGTCCCTCCCCCTCCCAGCTGTTGTCTGCCCTTTTGCTGGGGGGGGGGGGGGGCTATTCTTAGGCCCCCAGCACGTGGGAAGCAGCTGCCCTCAGGAAGCGACTGGGCTGTTCTGGGTTCCCTTAGGGACACAGTCGGACCTGAATGGATTCCAGACCCCACCCCAAACCAGAGGCTGTGAATGAGTAAAGGAACCACAGTGCCTCTCCATCCCCAGCCTGGACCTGTCTGTCCCTTAGCCCTGCCGCCTGATGGCTTTCTCCTTGGACAACAGCGTGCCGCCTGATGGCTTTCTCCTTGGACAACAGCGTGTCTCTTTCCGTCTTCACCCTGGGGCCCTGGAACTCCCCCTCCTCTCTAATCCCTGATCTGCCCATCTCAGACTCTGTCCTGTGGGTCTGTCCACTGACCTCTCCTCTCTTCCCCGATATTCCATGCTTCTCTCTCCTTCTAGGACTGGCTTTCTGAAACATCTGGTGGCCTCTCTTCTGTCCCCAGTCTATTACTCTTGCCTGTGGCTCCATCCACCCTTCTCCCTTGGTCTGCCTGTCCCCCTCACTCTCCAAGCTTGGCTGTTAGTAACAATAATGACGATGATCATAACAATGACAATCACCGCCCACACAATGTGCTACCTTCATGCCAAGAACTCTACTAACCACTTTGTCCTTATTAACTGTTTCCTCCTCCCAGCACCGCTAGAAGGTAGACGCTATTAGCATGTCCATTAGCCAAGGACACACAGGCAGCAAGTGGAGGGTGAACTTGAACTTCAAGCTCCAGAATCCTGCTCCTTCCTGACCTCAGGCCCACTTCTCCCCAGCTCTGCCTGGCTGGCTGGCATTCTTTTCTGAGACAGAGTCTCGCTCCGTCGCCCAGGCTGGAGTGCAGTGGCCCAATCGCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCCAGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCGCCATGTTGACCAGGCTGTCTTTCGATCTTGCTCTCTTTCTCTCTGGGTCTGAGGACCTTGGCCTCTTGGATCTCCGTCTCAGTCTGTCTCATACTTGCCATCTGTCTGTCCATTCGCCCATGTCTGGGATCCACCCACCCACTTCCAGGCCCTGCATCTGTCTGGGTGTCCTATCACGCCTCCTTCCTGTGTCCAAGCCTGCCTCGCTCTCTGGCTGGGGCTGTCCACCCTGCACCCTCTCCGTCTGTGGCTCCCACCCCGATGGCAGGCTGTCCACCCGCTTCTGCCCTGGGCTGGGCCACGTCCCACCTTGCAGCCCTTGCTGTTCATGGAATCCAGTGTCCTCTTCAGGGCCGGGGTGGGGGCCTCCAGCAGTTCCACCTGGGTCCTCACGCCCTGCTCCGTGTACGGCCCCACCAGGAAGTAGTTGTCGCCCCATTCGTCCCGTCACCTTCGCCTTCGTCTGCAGCACCGTGTAGATGCCACCCACTGTGGGCCCAAGCGTGTGAGGGCAGGCCCCGGCCGAGGTCCATAGTTCTGGGGCCTGGGGTGGGGTGGGCCGGGGATGTAGGGGGCACTCAGGCCCCAGACCTCTAGCTCAGGGGGAAGAGGGGACTGGGAGCCCATAGTTTGGAGTAGGGGTTGGAAGCTTGGATGAGGGGAACACGAGGGCTGGAGGGCAGTCCTCCTGGGTCTAAGGGAGAAGGGGGCTGGGGTCAGGACCCTGAAGGAGGAGGGGGCTCAGGCTAGACTTCTGGGTCTGAGAGAGAAGGGGCTGGGTGCCGGGACCCCTTGGTCTGAAGGAATTAGGCACTGGGGCTCTAAGGATGGCAGAGCTGAGGACTGACTACCCGGACTCAGGTTCCCGAGTTCCCAGCTCACAGGAGCTGGGTTTAAATCGCAGCCAGGCTCCAAAACCCAGTGAGGGAGACCCCCTCATGGCCAATCCAGCTTCTCACCATTGCCCAAGAGAAGCCTGCATGGTCATTCCCTGCCCCCAGGGACCTTGCTGACCTGCCTCCCAATTTCCTCTCCCTGACTAGGGACACCAGCATGCAGGGCTCTGCCTCTCCCATGACCCTATCCCAGACCCAGGAGCCCCAGCCCCCAGCCTCCTCCCATCCTGGAGCCCAGGCCCTGGCGATACCCGGCTGGGTGTTCACGGGCCCCCTCTCCTCCTGGGAGACACAGTCCCTTTCTCCTCCAAGACCCAGCAAAGCAACCCCCCAGACCCTGCTCTTTGAGGTGTGAGATTGGCTTGTTCCTGGGGATTTCAGCCCCAGCCTTCTCCAAGGCCAGAACCTCAGCTTTCTGAAGCCCAAGACACAGAAATGCAGGCTCCTAGCCCCTCCCATCCTAGGGCCCAGCCTCTGACTAACTTAGGACTTCCCAGCCTTCCCCTATTCCAGTACGCATGTGTCCCAGGCCATGGGCTCCTCTACTCCTAGGAACTAATAGCTCAGGCCCTCAGCTCCTTCAAAGCCCAGGCATTCATTACAGTCTCCAGCCCGTCCCATCTTTATTCTTAAGCAGCCAGATCCTCAGGTCCTCCCACCGCCGCTCAGGCCTCCTATCTCCCAGTCAGCTCTCTCTCAAATCTGGAGTTTTATCCCCTAGACCATGCTGTTAGGGTCATAGGTCTGAAACCCCGGCAGCTTCCCAGGTTTGCACGCAGAAATCCCATCCCCCCATCCCCTTCCCTGTTCAGGACCCAGGTATCTAGTCTCTCGGAAGCCTGCCTCCAGGACCTAGGAGTCTCATTTTAGCGCCCTCTTCCCTAGGACCCAGAACCCGGGCTTCCAGCCTCCTTTCATCTTAAGTCAAACGAACCATCCCTCTCCCACCCACCTCCGGCTTCCCAGCCCCTCCTCAAGGACACAGCCTCCTTGCCCAGGTCACAAGGGTTCCCCTAGTAGCCCCGTCCTCCTACAACTCAGAGTTCCGGGCCCCCATCCACTACTGTCCTTCTCGTCAAGGGCCCCGACGCCTGGCGTGCTCACCCTTGTTAGCCACCTCCCAGGCCACTTCGAAGAGCACTGCGTTCTCCAGGTCGAATTCATCCTCCCAGTCCTCCAGTCCTGGCAGTGAGGACATGGACAAAGTGCGGTTTAAAGGCATGGCTGGCGCAGGAAGGGGGGCTCCGGGGATCTCCAGGTAGGGACCCCGGAGGTGTCTAGGGAATGCACCAGGTAGGGTGCGGGGCCGAGTAGCTGGTGCCCGACGGGAAGCTTGCAAGACGCTCGGCTTCCTATTGCAAGACCGCACCCCTGCCCCGAAGCGTTGGGACCTAGGCAGAAGGAGGCCGCAGCGTCACTGAGCCCACTGGCGCCCCTGCAGTGAAACCTCGCAGCCGCCAGGAGGCGGTGGCCGCCCCCCCCAGCCAGCGCCATTGGCCCACGCCCGGGGGCGGGGATTTCCGCGTGTCCTCATTGGTGGAACGGGTTGGAGTCGCTGTGTCCCGGCCCCGCCTCGGCCGTGAGACCTCCAGGGGNN | pathogenic | 307,526 |
Does the genetic variant at chromosome 19, position 48991481, impacting gene GYS1 (glycogen synthase 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Glycogen_storage_disease_due_to_muscle_and_heart_glycogen_synthase_deficiency'] | GATTGTACCACTGCACTCCAGACTCAGCGACAGAGTGAGATTCTATCTGAAAAAAAAAAAAAAAAAATTATGGCTCACTACAGCCTCCACATCCCATCCTCCCACCTCAGCCTCCTGAGTAACTGGGATCACGAGCACGCACCATCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCGCCATGTTGCCCAGGTGGGTCAGGAACTCCTGGGCTCAAGCTATCCTCTCACCTCGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCACCGCCCTCGGCCACGCCACACATTTCTAACATAGCCCATCCTCTGTCCGTGCCCCAGGGCTGCATTTTTCTAGCCACTGCCGTGTTTCTAAGACTTGCTGTCTCACTTCTGCCTCTGCCACATTTCTCCAGTTGGCTGTTTTCCTCCCTGAGACCATGGCTTTGGTTCTGGGCCTGCTGCCACAGCAGTGGAGAAGCAGCCCCGCTCCTCGCCGACCTGGCTTTTTGCTGCCTGGAGCCTCGCTCTGAGGTCCCTCCCCCTCCCAGCTGTTGTCTGCCCTTTTGCTGGGGGGGGGGGGGGGCTATTCTTAGGCCCCCAGCACGTGGGAAGCAGCTGCCCTCAGGAAGCGACTGGGCTGTTCTGGGTTCCCTTAGGGACACAGTCGGACCTGAATGGATTCCAGACCCCACCCCAAACCAGAGGCTGTGAATGAGTAAAGGAACCACAGTGCCTCTCCATCCCCAGCCTGGACCTGTCTGTCCCTTAGCCCTGCCGCCTGATGGCTTTCTCCTTGGACAACAGCGTGCCGCCTGATGGCTTTCTCCTTGGACAACAGCGTGTCTCTTTCCGTCTTCACCCTGGGGCCCTGGAACTCCCCCTCCTCTCTAATCCCTGATCTGCCCATCTCAGACTCTGTCCTGTGGGTCTGTCCACTGACCTCTCCTCTCTTCCCCGATATTCCATGCTTCTCTCTCCTTCTAGGACTGGCTTTCTGAAACATCTGGTGGCCTCTCTTCTGTCCCCAGTCTATTACTCTTGCCTGTGGCTCCATCCACCCTTCTCCCTTGGTCTGCCTGTCCCCCTCACTCTCCAAGCTTGGCTGTTAGTAACAATAATGACGATGATCATAACAATGACAATCACCGCCCACACAATGTGCTACCTTCATGCCAAGAACTCTACTAACCACTTTGTCCTTATTAACTGTTTCCTCCTCCCAGCACCGCTAGAAGGTAGACGCTATTAGCATGTCCATTAGCCAAGGACACACAGGCAGCAAGTGGAGGGTGAACTTGAACTTCAAGCTCCAGAATCCTGCTCCTTCCTGACCTCAGGCCCACTTCTCCCCAGCTCTGCCTGGCTGGCTGGCATTCTTTTCTGAGACAGAGTCTCGCTCCGTCGCCCAGGCTGGAGTGCAGTGGCCCAATCGCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCCAGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCGCCATGTTGACCAGGCTGTCTTTCGATCTTGCTCTCTTTCTCTCTGGGTCTGAGGACCTTGGCCTCTTGGATCTCCGTCTCAGTCTGTCTCATACTTGCCATCTGTCTGTCCATTCGCCCATGTCTGGGATCCACCCACCCACTTCCAGGCCCTGCATCTGTCTGGGTGTCCTATCACGCCTCCTTCCTGTGTCCAAGCCTGCCTCGCTCTCTGGCTGGGGCTGTCCACCCTGCACCCTCTCCGTCTGTGGCTCCCACCCCGATGGCAGGCTGTCCACCCGCTTCTGCCCTGGGCTGGGCCACGTCCCACCTTGCAGCCCTTGCTGTTCATGGAATCCAGTGTCCTCTTCAGGGCCGGGGTGGGGGCCTCCAGCAGTTCCACCTGGGTCCTCACGCCCTGCTCCGTGTACGGCCCCACCAGGAAGTAGTTGTCGCCCCATTCGTCCCCTGTCACCTTCGCCTTCGTCTGCAGCACCGTGTAGATGCCACCCACTGTGGGCCCAAGCGTGTGAGGGCAGGCCCCGGCCGAGGTCCATAGTTCTGGGGCCTGGGGTGGGGTGGGCCGGGGATGTAGGGGGCACTCAGGCCCCAGACCTCTAGCTCAGGGGGAAGAGGGGACTGGGAGCCCATAGTTTGGAGTAGGGGTTGGAAGCTTGGATGAGGGGAACACGAGGGCTGGAGGGCAGTCCTCCTGGGTCTAAGGGAGAAGGGGGCTGGGGTCAGGACCCTGAAGGAGGAGGGGGCTCAGGCTAGACTTCTGGGTCTGAGAGAGAAGGGGCTGGGTGCCGGGACCCCTTGGTCTGAAGGAATTAGGCACTGGGGCTCTAAGGATGGCAGAGCTGAGGACTGACTACCCGGACTCAGGTTCCCGAGTTCCCAGCTCACAGGAGCTGGGTTTAAATCGCAGCCAGGCTCCAAAACCCAGTGAGGGAGACCCCCTCATGGCCAATCCAGCTTCTCACCATTGCCCAAGAGAAGCCTGCATGGTCATTCCCTGCCCCCAGGGACCTTGCTGACCTGCCTCCCAATTTCCTCTCCCTGACTAGGGACACCAGCATGCAGGGCTCTGCCTCTCCCATGACCCTATCCCAGACCCAGGAGCCCCAGCCCCCAGCCTCCTCCCATCCTGGAGCCCAGGCCCTGGCGATACCCGGCTGGGTGTTCACGGGCCCCCTCTCCTCCTGGGAGACACAGTCCCTTTCTCCTCCAAGACCCAGCAAAGCAACCCCCCAGACCCTGCTCTTTGAGGTGTGAGATTGGCTTGTTCCTGGGGATTTCAGCCCCAGCCTTCTCCAAGGCCAGAACCTCAGCTTTCTGAAGCCCAAGACACAGAAATGCAGGCTCCTAGCCCCTCCCATCCTAGGGCCCAGCCTCTGACTAACTTAGGACTTCCCAGCCTTCCCCTATTCCAGTACGCATGTGTCCCAGGCCATGGGCTCCTCTACTCCTAGGAACTAATAGCTCAGGCCCTCAGCTCCTTCAAAGCCCAGGCATTCATTACAGTCTCCAGCCCGTCCCATCTTTATTCTTAAGCAGCCAGATCCTCAGGTCCTCCCACCGCCGCTCAGGCCTCCTATCTCCCAGTCAGCTCTCTCTCAAATCTGGAGTTTTATCCCCTAGACCATGCTGTTAGGGTCATAGGTCTGAAACCCCGGCAGCTTCCCAGGTTTGCACGCAGAAATCCCATCCCCCCATCCCCTTCCCTGTTCAGGACCCAGGTATCTAGTCTCTCGGAAGCCTGCCTCCAGGACCTAGGAGTCTCATTTTAGCGCCCTCTTCCCTAGGACCCAGAACCCGGGCTTCCAGCCTCCTTTCATCTTAAGTCAAACGAACCATCCCTCTCCCACCCACCTCCGGCTTCCCAGCCCCTCCTCAAGGACACAGCCTCCTTGCCCAGGTCACAAGGGTTCCCCTAGTAGCCCCGTCCTCCTACAACTCAGAGTTCCGGGCCCCCATCCACTACTGTCCTTCTCGTCAAGGGCCCCGACGCCTGGCGTGCTCACCCTTGTTAGCCACCTCCCAGGCCACTTCGAAGAGCACTGCGTTCTCCAGGTCGAATTCATCCTCCCAGTCCTCCAGTCCTGGCAGTGAGGACATGGACAAAGTGCGGTTTAAAGGCATGGCTGGCGCAGGAAGGGGGGCTCCGGGGATCTCCAGGTAGGGACCCCGGAGGTGTCTAGGGAATGCACCAGGTAGGGTGCGGGGCCGAGTAGCTGGTGCCCGACGGGAAGCTTGCAAGACGCTCGGCTTCCTATTGCAAGACCGCACCCCTGCCCCGAAGCGTTGGGACCTAGGCAGAAGGAGGCCGCAGCGTCACTGAGCCCACTGGCGCCCCTGCAGTGAAACCTCGCAGCCGCCAGGAGGCGGTGGCCGCCCCCCCCAGCCAGCGCCATTGGCCCACGCCCGGGGGCGGGGATTTCCGCGTGTCCTCATTGGTGGAACGGGTTGGAGTCGCTGTGTCCCGGCCCCGCCTCGGCCGTGAGACCTCCAGGGGGCGGAGCTTGCCGCTGCGCTTTACGGAAACGAGTGGCCTTCAG | GATTGTACCACTGCACTCCAGACTCAGCGACAGAGTGAGATTCTATCTGAAAAAAAAAAAAAAAAAATTATGGCTCACTACAGCCTCCACATCCCATCCTCCCACCTCAGCCTCCTGAGTAACTGGGATCACGAGCACGCACCATCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCGCCATGTTGCCCAGGTGGGTCAGGAACTCCTGGGCTCAAGCTATCCTCTCACCTCGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCACCGCCCTCGGCCACGCCACACATTTCTAACATAGCCCATCCTCTGTCCGTGCCCCAGGGCTGCATTTTTCTAGCCACTGCCGTGTTTCTAAGACTTGCTGTCTCACTTCTGCCTCTGCCACATTTCTCCAGTTGGCTGTTTTCCTCCCTGAGACCATGGCTTTGGTTCTGGGCCTGCTGCCACAGCAGTGGAGAAGCAGCCCCGCTCCTCGCCGACCTGGCTTTTTGCTGCCTGGAGCCTCGCTCTGAGGTCCCTCCCCCTCCCAGCTGTTGTCTGCCCTTTTGCTGGGGGGGGGGGGGGGCTATTCTTAGGCCCCCAGCACGTGGGAAGCAGCTGCCCTCAGGAAGCGACTGGGCTGTTCTGGGTTCCCTTAGGGACACAGTCGGACCTGAATGGATTCCAGACCCCACCCCAAACCAGAGGCTGTGAATGAGTAAAGGAACCACAGTGCCTCTCCATCCCCAGCCTGGACCTGTCTGTCCCTTAGCCCTGCCGCCTGATGGCTTTCTCCTTGGACAACAGCGTGCCGCCTGATGGCTTTCTCCTTGGACAACAGCGTGTCTCTTTCCGTCTTCACCCTGGGGCCCTGGAACTCCCCCTCCTCTCTAATCCCTGATCTGCCCATCTCAGACTCTGTCCTGTGGGTCTGTCCACTGACCTCTCCTCTCTTCCCCGATATTCCATGCTTCTCTCTCCTTCTAGGACTGGCTTTCTGAAACATCTGGTGGCCTCTCTTCTGTCCCCAGTCTATTACTCTTGCCTGTGGCTCCATCCACCCTTCTCCCTTGGTCTGCCTGTCCCCCTCACTCTCCAAGCTTGGCTGTTAGTAACAATAATGACGATGATCATAACAATGACAATCACCGCCCACACAATGTGCTACCTTCATGCCAAGAACTCTACTAACCACTTTGTCCTTATTAACTGTTTCCTCCTCCCAGCACCGCTAGAAGGTAGACGCTATTAGCATGTCCATTAGCCAAGGACACACAGGCAGCAAGTGGAGGGTGAACTTGAACTTCAAGCTCCAGAATCCTGCTCCTTCCTGACCTCAGGCCCACTTCTCCCCAGCTCTGCCTGGCTGGCTGGCATTCTTTTCTGAGACAGAGTCTCGCTCCGTCGCCCAGGCTGGAGTGCAGTGGCCCAATCGCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCCAGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCGCCATGTTGACCAGGCTGTCTTTCGATCTTGCTCTCTTTCTCTCTGGGTCTGAGGACCTTGGCCTCTTGGATCTCCGTCTCAGTCTGTCTCATACTTGCCATCTGTCTGTCCATTCGCCCATGTCTGGGATCCACCCACCCACTTCCAGGCCCTGCATCTGTCTGGGTGTCCTATCACGCCTCCTTCCTGTGTCCAAGCCTGCCTCGCTCTCTGGCTGGGGCTGTCCACCCTGCACCCTCTCCGTCTGTGGCTCCCACCCCGATGGCAGGCTGTCCACCCGCTTCTGCCCTGGGCTGGGCCACGTCCCACCTTGCAGCCCTTGCTGTTCATGGAATCCAGTGTCCTCTTCAGGGCCGGGGTGGGGGCCTCCAGCAGTTCCACCTGGGTCCTCACGCCCTGCTCCGTGTACGGCCCCACCAGGAAGTAGTTGTCGCCCCATTCGTCCCCTGTCACCTTCGCCTTCGTCTGCAGCACCGTGTAGATGCCACCGTGGGCCCAAGCGTGTGAGGGCAGGCCCCGGCCGAGGTCCATAGTTCTGGGGCCTGGGGTGGGGTGGGCCGGGGATGTAGGGGGCACTCAGGCCCCAGACCTCTAGCTCAGGGGGAAGAGGGGACTGGGAGCCCATAGTTTGGAGTAGGGGTTGGAAGCTTGGATGAGGGGAACACGAGGGCTGGAGGGCAGTCCTCCTGGGTCTAAGGGAGAAGGGGGCTGGGGTCAGGACCCTGAAGGAGGAGGGGGCTCAGGCTAGACTTCTGGGTCTGAGAGAGAAGGGGCTGGGTGCCGGGACCCCTTGGTCTGAAGGAATTAGGCACTGGGGCTCTAAGGATGGCAGAGCTGAGGACTGACTACCCGGACTCAGGTTCCCGAGTTCCCAGCTCACAGGAGCTGGGTTTAAATCGCAGCCAGGCTCCAAAACCCAGTGAGGGAGACCCCCTCATGGCCAATCCAGCTTCTCACCATTGCCCAAGAGAAGCCTGCATGGTCATTCCCTGCCCCCAGGGACCTTGCTGACCTGCCTCCCAATTTCCTCTCCCTGACTAGGGACACCAGCATGCAGGGCTCTGCCTCTCCCATGACCCTATCCCAGACCCAGGAGCCCCAGCCCCCAGCCTCCTCCCATCCTGGAGCCCAGGCCCTGGCGATACCCGGCTGGGTGTTCACGGGCCCCCTCTCCTCCTGGGAGACACAGTCCCTTTCTCCTCCAAGACCCAGCAAAGCAACCCCCCAGACCCTGCTCTTTGAGGTGTGAGATTGGCTTGTTCCTGGGGATTTCAGCCCCAGCCTTCTCCAAGGCCAGAACCTCAGCTTTCTGAAGCCCAAGACACAGAAATGCAGGCTCCTAGCCCCTCCCATCCTAGGGCCCAGCCTCTGACTAACTTAGGACTTCCCAGCCTTCCCCTATTCCAGTACGCATGTGTCCCAGGCCATGGGCTCCTCTACTCCTAGGAACTAATAGCTCAGGCCCTCAGCTCCTTCAAAGCCCAGGCATTCATTACAGTCTCCAGCCCGTCCCATCTTTATTCTTAAGCAGCCAGATCCTCAGGTCCTCCCACCGCCGCTCAGGCCTCCTATCTCCCAGTCAGCTCTCTCTCAAATCTGGAGTTTTATCCCCTAGACCATGCTGTTAGGGTCATAGGTCTGAAACCCCGGCAGCTTCCCAGGTTTGCACGCAGAAATCCCATCCCCCCATCCCCTTCCCTGTTCAGGACCCAGGTATCTAGTCTCTCGGAAGCCTGCCTCCAGGACCTAGGAGTCTCATTTTAGCGCCCTCTTCCCTAGGACCCAGAACCCGGGCTTCCAGCCTCCTTTCATCTTAAGTCAAACGAACCATCCCTCTCCCACCCACCTCCGGCTTCCCAGCCCCTCCTCAAGGACACAGCCTCCTTGCCCAGGTCACAAGGGTTCCCCTAGTAGCCCCGTCCTCCTACAACTCAGAGTTCCGGGCCCCCATCCACTACTGTCCTTCTCGTCAAGGGCCCCGACGCCTGGCGTGCTCACCCTTGTTAGCCACCTCCCAGGCCACTTCGAAGAGCACTGCGTTCTCCAGGTCGAATTCATCCTCCCAGTCCTCCAGTCCTGGCAGTGAGGACATGGACAAAGTGCGGTTTAAAGGCATGGCTGGCGCAGGAAGGGGGGCTCCGGGGATCTCCAGGTAGGGACCCCGGAGGTGTCTAGGGAATGCACCAGGTAGGGTGCGGGGCCGAGTAGCTGGTGCCCGACGGGAAGCTTGCAAGACGCTCGGCTTCCTATTGCAAGACCGCACCCCTGCCCCGAAGCGTTGGGACCTAGGCAGAAGGAGGCCGCAGCGTCACTGAGCCCACTGGCGCCCCTGCAGTGAAACCTCGCAGCCGCCAGGAGGCGGTGGCCGCCCCCCCCAGCCAGCGCCATTGGCCCACGCCCGGGGGCGGGGATTTCCGCGTGTCCTCATTGGTGGAACGGGTTGGAGTCGCTGTGTCCCGGCCCCGCCTCGGCCGTGAGACCTCCAGGGGGCGGAGCTTGCCGCTGCGCTTTACGGAAACGAGTGGCCTTCAGNNNN | pathogenic | 307,527 |
The genetic variant at chromosome 19, position 48993364, affecting gene GYS1: benign or pathogenic? Disease name(s) if pathogenic? | benign | TGTTCATGGAATCCAGTGTCCTCTTCAGGGCCGGGGTGGGGGCCTCCAGCAGTTCCACCTGGGTCCTCACGCCCTGCTCCGTGTACGGCCCCACCAGGAAGTAGTTGTCGCCCCATTCGTCCCCTGTCACCTTCGCCTTCGTCTGCAGCACCGTGTAGATGCCACCCACTGTGGGCCCAAGCGTGTGAGGGCAGGCCCCGGCCGAGGTCCATAGTTCTGGGGCCTGGGGTGGGGTGGGCCGGGGATGTAGGGGGCACTCAGGCCCCAGACCTCTAGCTCAGGGGGAAGAGGGGACTGGGAGCCCATAGTTTGGAGTAGGGGTTGGAAGCTTGGATGAGGGGAACACGAGGGCTGGAGGGCAGTCCTCCTGGGTCTAAGGGAGAAGGGGGCTGGGGTCAGGACCCTGAAGGAGGAGGGGGCTCAGGCTAGACTTCTGGGTCTGAGAGAGAAGGGGCTGGGTGCCGGGACCCCTTGGTCTGAAGGAATTAGGCACTGGGGCTCTAAGGATGGCAGAGCTGAGGACTGACTACCCGGACTCAGGTTCCCGAGTTCCCAGCTCACAGGAGCTGGGTTTAAATCGCAGCCAGGCTCCAAAACCCAGTGAGGGAGACCCCCTCATGGCCAATCCAGCTTCTCACCATTGCCCAAGAGAAGCCTGCATGGTCATTCCCTGCCCCCAGGGACCTTGCTGACCTGCCTCCCAATTTCCTCTCCCTGACTAGGGACACCAGCATGCAGGGCTCTGCCTCTCCCATGACCCTATCCCAGACCCAGGAGCCCCAGCCCCCAGCCTCCTCCCATCCTGGAGCCCAGGCCCTGGCGATACCCGGCTGGGTGTTCACGGGCCCCCTCTCCTCCTGGGAGACACAGTCCCTTTCTCCTCCAAGACCCAGCAAAGCAACCCCCCAGACCCTGCTCTTTGAGGTGTGAGATTGGCTTGTTCCTGGGGATTTCAGCCCCAGCCTTCTCCAAGGCCAGAACCTCAGCTTTCTGAAGCCCAAGACACAGAAATGCAGGCTCCTAGCCCCTCCCATCCTAGGGCCCAGCCTCTGACTAACTTAGGACTTCCCAGCCTTCCCCTATTCCAGTACGCATGTGTCCCAGGCCATGGGCTCCTCTACTCCTAGGAACTAATAGCTCAGGCCCTCAGCTCCTTCAAAGCCCAGGCATTCATTACAGTCTCCAGCCCGTCCCATCTTTATTCTTAAGCAGCCAGATCCTCAGGTCCTCCCACCGCCGCTCAGGCCTCCTATCTCCCAGTCAGCTCTCTCTCAAATCTGGAGTTTTATCCCCTAGACCATGCTGTTAGGGTCATAGGTCTGAAACCCCGGCAGCTTCCCAGGTTTGCACGCAGAAATCCCATCCCCCCATCCCCTTCCCTGTTCAGGACCCAGGTATCTAGTCTCTCGGAAGCCTGCCTCCAGGACCTAGGAGTCTCATTTTAGCGCCCTCTTCCCTAGGACCCAGAACCCGGGCTTCCAGCCTCCTTTCATCTTAAGTCAAACGAACCATCCCTCTCCCACCCACCTCCGGCTTCCCAGCCCCTCCTCAAGGACACAGCCTCCTTGCCCAGGTCACAAGGGTTCCCCTAGTAGCCCCGTCCTCCTACAACTCAGAGTTCCGGGCCCCCATCCACTACTGTCCTTCTCGTCAAGGGCCCCGACGCCTGGCGTGCTCACCCTTGTTAGCCACCTCCCAGGCCACTTCGAAGAGCACTGCGTTCTCCAGGTCGAATTCATCCTCCCAGTCCTCCAGTCCTGGCAGTGAGGACATGGACAAAGTGCGGTTTAAAGGCATGGCTGGCGCAGGAAGGGGGGCTCCGGGGATCTCCAGGTAGGGACCCCGGAGGTGTCTAGGGAATGCACCAGGTAGGGTGCGGGGCCGAGTAGCTGGTGCCCGACGGGAAGCTTGCAAGACGCTCGGCTTCCTATTGCAAGACCGCACCCCTGCCCCGAAGCGTTGGGACCTAGGCAGAAGGAGGCCGCAGCGTCACTGAGCCCACTGGCGCCCCTGCAGTGAAACCTCGCAGCCGCCAGGAGGCGGTGGCCGCCCCCCCCAGCCAGCGCCATTGGCCCACGCCCGGGGGCGGGGATTTCCGCGTGTCCTCATTGGTGGAACGGGTTGGAGTCGCTGTGTCCCGGCCCCGCCTCGGCCGTGAGACCTCCAGGGGGCGGAGCTTGCCGCTGCGCTTTACGGAAACGAGTGGCCTTCAGCTCTGTCAATCTGGAGCTGGAGGCCTCAAAGTGGGGAGGAGGAGGAGGGTGGGATAAAGAGGAAAGGAGCGTGGAGGACGTGTGGTTACTCAAAGAACAGCTAAGAATTTTGCAATCGGCCTGAGCGGGGCGGTGGTGGGGCTGAGCAAAAGGAGGAGGAGCCAGGAGACATTGGGAATGGACCCAGGAGTTCCGGACGCCCGTCTTCCAGCGCAGCCTCGGTGGGAGGGCGGGGCATAAAGTCCCGCCACGCCCCCACAATATTTACATATTTATGAGGAACCATCGAGATCTTTGAAGAACCAGCTAGCCTAGAGGAGCCAGAACATCTCGCTCCTCGCGCGTTTCCGTTTCCGCTAGGACTCTGGCAGTTGGTGAGCATCATGGCAACCGTTGTAAGTGTGGGTGCATGGAGGGTGAGGAGCGAGCTAGCAGTCTCGAGTTTGAGAGAGGAGGATGCTGGAGGCCCTGACTCCTGGGTCTGAGGGAGGGGGGATCTGGGGGTTCAGACTCCTGGGTCTGAAAGAGGAGGAAGCTCGGCCACCCAGATCTGGGGGAGAAGGGGACATGGGGGCTGGACTTCTGGATCTGAGGCGGGGAGGGGGCTGGGATCCCAGAATCTCGGGTCTGGCCCCATCATGCTATAGGAACTCCAACTTTCAAAATCATCTTGGCGCAACGGCCGGTTCCGCAGTCCTTGGCGCCAGTGTGTGATGAGGAGGGTTGTAGGACCTTGCGCTTCGAGCCATTTGGGAGCCTTGGATTGTTAGTGGTGCCAATGGCACTTGAGTTCCAAGCTGGAAGCACAGGCAGGTACCTGTTCAGTGTGTCTGAGAGCGCGAGGGCGCCTAGTGAGCCTTTAGTGGGAAGAAATTGTCGAGGAACAAGAGAGTCTTAGTGGAGAGGACTGAAGGATTAGGGACCCAGAAATCGGGATCTTGTCATGCTACCGTTTTGGCCATTTTCATATTTCCAGTATTTCACACGGGCTACGTCTCAGTGTAAATGCTCAATAAATTATCACTTGAATATTTGAATGAATGAATACATGTGAATGAAGGAGAGGCCAGGAAACTTGGCCTGGCACCTGCTCAATTACCTGAATAAAGAAGCGATTTTGGCCTGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACTTCAGGTCAGGAGTTCGTGGCCAACATTGCGAAACCCCGTCTCTATTAAAAATACAAAAATTAGCCAGGTGTGGTGGTGCAGGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAAGTTGCAGTGAGCCAAGATCGCGCCACTGCATTCCAGCCTGGGCGACAAAGCGAGACTCTGTCTCCAAAAAAAAAAAGGTAATGTGACCTGAACTTAGGGACTGGGCTGGGCTTACAGGTGCCTCAATTTCCATGATGAGCCCAGTCAAGATGGAGGAAGGGAGGGGGAGAAAGTTGTTGGTAGCTGGGGATGAGATTTGAGTCTGTTGCTGTCACCAGGGCAAGGAGGAGGAGGAGGTGGATAGGGAAGTAGAAGAGGAAGGCTATGACCAGAACTACCGTGGAGAAAGTATTGGAAGTATGAGGGGACGGTGTGTGCTGAGTTTTGAAATGACCTTGGTTTTCATGGGAACAGCGGGCAGCAAGGTTTTGGAGAGACTTATGATGAAAGAGAAAGTCTTTATAGGAGACAGTCCTTGGTAAGGGGCCTGTTTATGTTGAGAGAGCTACATTTGGGATTCCTGGATTCATGTCTTTTTTGTGGGGTGGGGATGCCTAGTCTTCTGCTTGTAGTCTGGGGGTAATGTTCTATGCTCCTGGGTTCCAGCTTCCTATA | TGTTCATGGAATCCAGTGTCCTCTTCAGGGCCGGGGTGGGGGCCTCCAGCAGTTCCACCTGGGTCCTCACGCCCTGCTCCGTGTACGGCCCCACCAGGAAGTAGTTGTCGCCCCATTCGTCCCCTGTCACCTTCGCCTTCGTCTGCAGCACCGTGTAGATGCCACCCACTGTGGGCCCAAGCGTGTGAGGGCAGGCCCCGGCCGAGGTCCATAGTTCTGGGGCCTGGGGTGGGGTGGGCCGGGGATGTAGGGGGCACTCAGGCCCCAGACCTCTAGCTCAGGGGGAAGAGGGGACTGGGAGCCCATAGTTTGGAGTAGGGGTTGGAAGCTTGGATGAGGGGAACACGAGGGCTGGAGGGCAGTCCTCCTGGGTCTAAGGGAGAAGGGGGCTGGGGTCAGGACCCTGAAGGAGGAGGGGGCTCAGGCTAGACTTCTGGGTCTGAGAGAGAAGGGGCTGGGTGCCGGGACCCCTTGGTCTGAAGGAATTAGGCACTGGGGCTCTAAGGATGGCAGAGCTGAGGACTGACTACCCGGACTCAGGTTCCCGAGTTCCCAGCTCACAGGAGCTGGGTTTAAATCGCAGCCAGGCTCCAAAACCCAGTGAGGGAGACCCCCTCATGGCCAATCCAGCTTCTCACCATTGCCCAAGAGAAGCCTGCATGGTCATTCCCTGCCCCCAGGGACCTTGCTGACCTGCCTCCCAATTTCCTCTCCCTGACTAGGGACACCAGCATGCAGGGCTCTGCCTCTCCCATGACCCTATCCCAGACCCAGGAGCCCCAGCCCCCAGCCTCCTCCCATCCTGGAGCCCAGGCCCTGGCGATACCCGGCTGGGTGTTCACGGGCCCCCTCTCCTCCTGGGAGACACAGTCCCTTTCTCCTCCAAGACCCAGCAAAGCAACCCCCCAGACCCTGCTCTTTGAGGTGTGAGATTGGCTTGTTCCTGGGGATTTCAGCCCCAGCCTTCTCCAAGGCCAGAACCTCAGCTTTCTGAAGCCCAAGACACAGAAATGCAGGCTCCTAGCCCCTCCCATCCTAGGGCCCAGCCTCTGACTAACTTAGGACTTCCCAGCCTTCCCCTATTCCAGTACGCATGTGTCCCAGGCCATGGGCTCCTCTACTCCTAGGAACTAATAGCTCAGGCCCTCAGCTCCTTCAAAGCCCAGGCATTCATTACAGTCTCCAGCCCGTCCCATCTTTATTCTTAAGCAGCCAGATCCTCAGGTCCTCCCACCGCCGCTCAGGCCTCCTATCTCCCAGTCAGCTCTCTCTCAAATCTGGAGTTTTATCCCCTAGACCATGCTGTTAGGGTCATAGGTCTGAAACCCCGGCAGCTTCCCAGGTTTGCACGCAGAAATCCCATCCCCCCATCCCCTTCCCTGTTCAGGACCCAGGTATCTAGTCTCTCGGAAGCCTGCCTCCAGGACCTAGGAGTCTCATTTTAGCGCCCTCTTCCCTAGGACCCAGAACCCGGGCTTCCAGCCTCCTTTCATCTTAAGTCAAACGAACCATCCCTCTCCCACCCACCTCCGGCTTCCCAGCCCCTCCTCAAGGACACAGCCTCCTTGCCCAGGTCACAAGGGTTCCCCTAGTAGCCCCGTCCTCCTACAACTCAGAGTTCCGGGCCCCCATCCACTACTGTCCTTCTCGTCAAGGGCCCCGACGCCTGGCGTGCTCACCCTTGTTAGCCACCTCCCAGGCCACTTCGAAGAGCACTGCGTTCTCCAGGTCGAATTCATCCTCCCAGTCCTCCAGTCCTGGCAGTGAGGACATGGACAAAGTGCGGTTTAAAGGCATGGCTGGCGCAGGAAGGGGGGCTCCGGGGATCTCCAGGTAGGGACCCCGGAGGTGTCTAGGGAATGCACCAGGTAGGGTGCGGGGCCGAGTAGCTGGTGCCCGACGGGAAGCTTGCAAGACGCTCGGCTTCCTATTGCAAGACCGCACCCCTGCCCCGAAGCGTTGGGACCTAGGCAGAAGGAGGCCGCAGCGTCACTGAGCCCACTGGCGCCCCTGCAGTGAAACCTCGCAGCCGCCAGGAGGCGGTGGCCGCCCCCCCAGCCAGCGCCATTGGCCCACGCCCGGGGGCGGGGATTTCCGCGTGTCCTCATTGGTGGAACGGGTTGGAGTCGCTGTGTCCCGGCCCCGCCTCGGCCGTGAGACCTCCAGGGGGCGGAGCTTGCCGCTGCGCTTTACGGAAACGAGTGGCCTTCAGCTCTGTCAATCTGGAGCTGGAGGCCTCAAAGTGGGGAGGAGGAGGAGGGTGGGATAAAGAGGAAAGGAGCGTGGAGGACGTGTGGTTACTCAAAGAACAGCTAAGAATTTTGCAATCGGCCTGAGCGGGGCGGTGGTGGGGCTGAGCAAAAGGAGGAGGAGCCAGGAGACATTGGGAATGGACCCAGGAGTTCCGGACGCCCGTCTTCCAGCGCAGCCTCGGTGGGAGGGCGGGGCATAAAGTCCCGCCACGCCCCCACAATATTTACATATTTATGAGGAACCATCGAGATCTTTGAAGAACCAGCTAGCCTAGAGGAGCCAGAACATCTCGCTCCTCGCGCGTTTCCGTTTCCGCTAGGACTCTGGCAGTTGGTGAGCATCATGGCAACCGTTGTAAGTGTGGGTGCATGGAGGGTGAGGAGCGAGCTAGCAGTCTCGAGTTTGAGAGAGGAGGATGCTGGAGGCCCTGACTCCTGGGTCTGAGGGAGGGGGGATCTGGGGGTTCAGACTCCTGGGTCTGAAAGAGGAGGAAGCTCGGCCACCCAGATCTGGGGGAGAAGGGGACATGGGGGCTGGACTTCTGGATCTGAGGCGGGGAGGGGGCTGGGATCCCAGAATCTCGGGTCTGGCCCCATCATGCTATAGGAACTCCAACTTTCAAAATCATCTTGGCGCAACGGCCGGTTCCGCAGTCCTTGGCGCCAGTGTGTGATGAGGAGGGTTGTAGGACCTTGCGCTTCGAGCCATTTGGGAGCCTTGGATTGTTAGTGGTGCCAATGGCACTTGAGTTCCAAGCTGGAAGCACAGGCAGGTACCTGTTCAGTGTGTCTGAGAGCGCGAGGGCGCCTAGTGAGCCTTTAGTGGGAAGAAATTGTCGAGGAACAAGAGAGTCTTAGTGGAGAGGACTGAAGGATTAGGGACCCAGAAATCGGGATCTTGTCATGCTACCGTTTTGGCCATTTTCATATTTCCAGTATTTCACACGGGCTACGTCTCAGTGTAAATGCTCAATAAATTATCACTTGAATATTTGAATGAATGAATACATGTGAATGAAGGAGAGGCCAGGAAACTTGGCCTGGCACCTGCTCAATTACCTGAATAAAGAAGCGATTTTGGCCTGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACTTCAGGTCAGGAGTTCGTGGCCAACATTGCGAAACCCCGTCTCTATTAAAAATACAAAAATTAGCCAGGTGTGGTGGTGCAGGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAAGTTGCAGTGAGCCAAGATCGCGCCACTGCATTCCAGCCTGGGCGACAAAGCGAGACTCTGTCTCCAAAAAAAAAAAGGTAATGTGACCTGAACTTAGGGACTGGGCTGGGCTTACAGGTGCCTCAATTTCCATGATGAGCCCAGTCAAGATGGAGGAAGGGAGGGGGAGAAAGTTGTTGGTAGCTGGGGATGAGATTTGAGTCTGTTGCTGTCACCAGGGCAAGGAGGAGGAGGAGGTGGATAGGGAAGTAGAAGAGGAAGGCTATGACCAGAACTACCGTGGAGAAAGTATTGGAAGTATGAGGGGACGGTGTGTGCTGAGTTTTGAAATGACCTTGGTTTTCATGGGAACAGCGGGCAGCAAGGTTTTGGAGAGACTTATGATGAAAGAGAAAGTCTTTATAGGAGACAGTCCTTGGTAAGGGGCCTGTTTATGTTGAGAGAGCTACATTTGGGATTCCTGGATTCATGTCTTTTTTGTGGGGTGGGGATGCCTAGTCTTCTGCTTGTAGTCTGGGGGTAATGTTCTATGCTCCTGGGTTCCAGCTTCCTATAN | benign | 307,533 |
Assess the variant on chromosome 19, position 49016528, impacting LHB (luteinizing hormone subunit beta): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | TCAGAATCCGGGGCACCAGCTACCAGAGCCCTCACGGCATCCCCATAGACCTGCTGGACCGGCTGCTTATCGTCTCCACCACCCCCTACAGCGAGAAAGACACGAAGCAGATCCTCCGCATCCGGTGCGGGCAGGACCAGGCCGTGCGCCTGAGACGCAGGGCTGGGGTCTACCCTGTTTGACAAATGCTGACACTGAGGTCCAGCGGAGTGGCATGGTGGCTGGGCCTACAGGAGAGAGGGCTGAGCGGGCACCCAGACGGTGGCCTCCGATCCGGGAGCAGGAGCCACGGTGGGAAAGGGAGGCGAGGTACCCGTGACTGGTGTTGGGGCCAGCGCCCTGGGGGTGGTCAGGAGGCCTCGGTTTTAGGTCCAGCCCAGCCCCTGTCTCCGTGGCTCTTCTAGCCTCAGCATTCTATGGTTCTAAGATGCAGGCGCCACATATTCCCAGTGGGGAAGGGCCAGAGGGTTGCTGTGGCCACTTCTGCTGCAGTCAGAGGCTGGGCCCCGGCTGAGCCACCCCTGTCCCCCACTGCTTGCAGGTGCGAGGAAGAAGATGTGGAGATGAGTGAGGACGCCTACACGGTGCTGACCCGCATCGGGCTGGAGACGTCACTGCGCTACGCCATCCAGCTCATCACAGCTGCCAGCTTGGTGTGCCGGAAACGCAAGGTCAGCCGGCCGAATTAGCCAGCAGGGCCAGATGGCGGCAGTGAGTGACACAGTACTTCAGGGGCTTCCAGGGTTCCGATTTCATCCTAGAATGTACGTTTTCAGACGCAGGGAATTTTCATCCCTCAGGTTGGCTTCTGTATCATCCAGCCTGGCCTATAGTAGGTATCAGTAAATCTCTCTTGACTTAAGTAGATGCTGTTAGGTCCACCTTACAGATAAAGAAACTGAGGAATGAAGAGGCTGGGCCCACAACAAGGAGATGGCCAGGCAGGATTTGAACCCAGGCAATCTGGCCCAGAATGCCCTCCCCTCACATGCCACACTCTGCTGCCTAGAGCATGGAGGTGGCATACGCTGGGGTCTGTGCCTTGAGCCTCACGGAGAGGGGCCCAACTGAGGACTCGCCCTCCCCCTCCAGGGTACAGAAGTGCAGGTGGATGACATCAAGCGGGTCTACTCACTCTTCCTGGACGAGTCCCGCTCCACGCAGTACATGAAGGAGTACCAGGACGCCTTCCTCTTCAACGAACTCAGTAAGAATCCCCACCCCGCACCTGCACTGCCAGAGCCAACCTCAGAGGGAGGAAGAGGGAGCTCGGCGTAGAAGGCTCAGGCCCTGCCACCTGGGCGACACTGACCATGTGGCCTTCCTTCTCCCCACAGAAGGCGAGACCATGGACACCTCCTGAGTTGGATGTCATCCCCCGACCCCACCCTGTTTTCCACCAGAGTTCTGACACTGTGACTCTGTATAAAATGGTTGGGAAGCTGCACCCACCCTGTGTATGTGTGGTTGCCCTGAGCCCACAGAAAGACACCTCCAGAGTGCGGATTGAGAAGCCTTTATTGTGGGAGGATCGGGGTGTCAGGGCTCCAGGAGTCGGGATGGACTTGGAAGGCTGCGGGGAGGGTCTTTAGAGGAAGAGGAGGCCTGAGAGTTGGGGGTGGTCACAGGTCAAGGGGTGGTCTTTGGGACCCCCACAGTCAGAGGTGCTGCGGCGGCAGGGTCCACAGCGACAGCTGAGAGCCACAGGGAAGGAGACCACGGGGTCCACACCACGCGGGCAGCCAGGGAGCCGGATGGACTCGAAGCGCACATCACGGTAGGTGCACACCACCTGAGGCAGGGGCGGCAGGACCGCCTGCAGCACGCGCATCTGGAGGCCGTGTGAGTGGGGGAATGAGCATGTGCCTGAGGCCAGCGCCTCAGCTGAGCTCCCAAGCTGACCCCACAGGTCCTGGACTCAGGAGCCCAGGAAGCCCTCTGTTCCTGCCTTCCCACACCCCATTCCCCAACCGCAGGCCAGAGAGGCAGACCACCCTTCCTCCCCCGCTGCCTCTGTGGGTCTGGCCCTGAGGTGGCAGCATCTGCCCCTGGCCCCAGGCAGCTCACCATGGTGGGGCAGTAGCCGGCACAGATGGTGGTGTTGACGGTGATGCACACTGGGCAGCCCTCCTTCTCGACAGCCAGGATGGCATTGATGGGGTGGCACCATGGCCGAAGCGGCTCCCTGGATGCCCATGCCCCGCCCATGCTCAGCAGCAGCAACAGCAGCAGCCCCTGGGACAAGGACACTGCTTCACCCAGGTCTGAGACCGCAGCCCCGAGTCCTGGCCTTCCCATCCCGCGTGGTACACCACCCACAAAGACCCAGAGACCCTTCCCGGCATCTCCTATTCAGGACCCACCACCCGGACACCTGCCTTTCAGAGCCCACCCCACAGCCCAGAGGACCTGAGATGCCCCAACATTTCAGATCCCCACCCTCAGGAACTGCCCCACCTGAAGCTTACTGGGGGTCATGCCCCTCCAGAAAGAGGCCTCCTTCCACAGCTCACACGGGTCTGCCCCTTCTCATGCCAGTGATGGCCTGGAAGGAGGTGGAAGGTGCCCAGGGGCCCTGTAGTCTTACCTGGAGCATCTCCATCCTTGGTGCATCCCCTGCCTCGTGTATCTGGCTATATACCTCGGGGTTGTGGGGGCGGCAAGGCCACCAGGAGGTGATAGGATGCTGGGGTAACCTGGACACTAATCCCCCCGGGGGCGAGAGGTGCACATGGCCAGGGAGGCGCAGGAGTGGCTCAGCAGAGCGCCCCAGCCCTCTCCCCTCAGTGGTCTAGCGCCAGAGGTGAGGCAGAGACCACGGTGAAGTGACCTCAGAGACCCAGTTGTCGAGTGCTAGGGACTAGTCGAGCCTGGAGGCACAGGGAGTAGGGTGTAGGAAGGCCTGCCTCTGCCAATTGTGGGGTCTTGGGAGCCAGGAGGAGGCCATGACCCGAGAAAGGTGCTGGACTGAAGCCTCAACCCTCCACTTGAGGCTTTCCTGCACCACAGTCCAACCTAACAGGAGGGGCGCTGCTTCGGACTTAGCTTCTGCCCAGTGAGAGAGGGTCTCCCCGTGACTGTGCTGCCAGGGAAGCCACTTGACCCAGATGCCCCCAAGGAGGGATTAAGCCCGAGCCCCACCTCTCCCTTAGGGACCTCCGCCCACCCTACCCTCAAGCCAGGATGCCCGGAGCGTCCCCGGAAGTGGGTGTGGTTCAGGTGATTTAACTCATTATTTAATACGCCCGCAGGGTGCGTGTCTTGCCCCCGGGGCCACAGCCTGCAAGGACATTATCTGGACTTAGTCCCCTCTCCGTGATGCCGCAGCTGAGTGGGTGTCTGGGCTAGTCCCGCCCCCACGTTGCCAATAGACGTAATGAGTGCGACTCAGGCTGGGTCCGGAACCCTTCCTAGTGAGCGGAGGTCCCGAGCTCCGCTCGGCAGCGCGGCCCTGGGGGCGGGTCTGGGGTGGGGCTGGCCCTGACGGCTCACACCAGCGCCGGCTTCAAGCTGCCATAGCTGGAGTTCTCGGTACTGTAGGCTTTCGGCACGCTGTAGATGCCCCGCAGGGGCTTCCAGTGCGGGCCGCCCCAGGGCGCCTCCAGCGGGCAGAAGCGGTCGAGCCGCCGGAGCGGGTGCAGCAGGGGGCTGTAGGACTCCTGAGCCAGAGACAGGGCTCCCCGGTGCGGCATGGCCGAGGTCACCGGGCTGACGCGCGGCACGCGGACCCGCGGTGGTCGGGGCGGCCGGGAGGAGCGCGGACAGGGCGGCCGCTGCGGGCCGTGGCTCCAGACCTGGGGCGTCTCTTCGAAGCTCCAGTAGGTCAGGGAGTCCTTGCGGGGGTATCCGGACAGCTCCGTCCTGTGGGAGCAGGGCGGGATGGTGAGGATACAGCTGGATCCTTGGGGACGAGTTTCAGACCTCGGGATCTAAGGAGTCTGCACATTCAAACTCCTGCATTTCCAGGCGAGCACCCCTTAGGAAGGACGCGACCCGGCACGCGTTGCCTGCGTTCCTGGGTCCTCGAGGTACTTAACGTCCTGGAAACTGAGCTTTCGCATCCTAGGGAAGTAAAAGGGGACTTTCGCTTCCTTGG | TCAGAATCCGGGGCACCAGCTACCAGAGCCCTCACGGCATCCCCATAGACCTGCTGGACCGGCTGCTTATCGTCTCCACCACCCCCTACAGCGAGAAAGACACGAAGCAGATCCTCCGCATCCGGTGCGGGCAGGACCAGGCCGTGCGCCTGAGACGCAGGGCTGGGGTCTACCCTGTTTGACAAATGCTGACACTGAGGTCCAGCGGAGTGGCATGGTGGCTGGGCCTACAGGAGAGAGGGCTGAGCGGGCACCCAGACGGTGGCCTCCGATCCGGGAGCAGGAGCCACGGTGGGAAAGGGAGGCGAGGTACCCGTGACTGGTGTTGGGGCCAGCGCCCTGGGGGTGGTCAGGAGGCCTCGGTTTTAGGTCCAGCCCAGCCCCTGTCTCCGTGGCTCTTCTAGCCTCAGCATTCTATGGTTCTAAGATGCAGGCGCCACATATTCCCAGTGGGGAAGGGCCAGAGGGTTGCTGTGGCCACTTCTGCTGCAGTCAGAGGCTGGGCCCCGGCTGAGCCACCCCTGTCCCCCACTGCTTGCAGGTGCGAGGAAGAAGATGTGGAGATGAGTGAGGACGCCTACACGGTGCTGACCCGCATCGGGCTGGAGACGTCACTGCGCTACGCCATCCAGCTCATCACAGCTGCCAGCTTGGTGTGCCGGAAACGCAAGGTCAGCCGGCCGAATTAGCCAGCAGGGCCAGATGGCGGCAGTGAGTGACACAGTACTTCAGGGGCTTCCAGGGTTCCGATTTCATCCTAGAATGTACGTTTTCAGACGCAGGGAATTTTCATCCCTCAGGTTGGCTTCTGTATCATCCAGCCTGGCCTATAGTAGGTATCAGTAAATCTCTCTTGACTTAAGTAGATGCTGTTAGGTCCACCTTACAGATAAAGAAACTGAGGAATGAAGAGGCTGGGCCCACAACAAGGAGATGGCCAGGCAGGATTTGAACCCAGGCAATCTGGCCCAGAATGCCCTCCCCTCACATGCCACACTCTGCTGCCTAGAGCATGGAGGTGGCATACGCTGGGGTCTGTGCCTTGAGCCTCACGGAGAGGGGCCCAACTGAGGACTCGCCCTCCCCCTCCAGGGTACAGAAGTGCAGGTGGATGACATCAAGCGGGTCTACTCACTCTTCCTGGACGAGTCCCGCTCCACGCAGTACATGAAGGAGTACCAGGACGCCTTCCTCTTCAACGAACTCAGTAAGAATCCCCACCCCGCACCTGCACTGCCAGAGCCAACCTCAGAGGGAGGAAGAGGGAGCTCGGCGTAGAAGGCTCAGGCCCTGCCACCTGGGCGACACTGACCATGTGGCCTTCCTTCTCCCCACAGAAGGCGAGACCATGGACACCTCCTGAGTTGGATGTCATCCCCCGACCCCACCCTGTTTTCCACCAGAGTTCTGACACTGTGACTCTGTATAAAATGGTTGGGAAGCTGCACCCACCCTGTGTATGTGTGGTTGCCCTGAGCCCACAGAAAGACACCTCCAGAGTGCGGATTGAGAAGCCTTTATTGTGGGAGGATCGGGGTGTCAGGGCTCCAGGAGTCGGGATGGACTTGGAAGGCTGCGGGGAGGGTCTTTAGAGGAAGAGGAGGCCTGAGAGTTGGGGGTGGTCACAGGTCAAGGGGTGGTCTTTGGGACCCCCACAGTCAGAGGTGCTGCGGCGGCAGGGTCCACAGCGACAGCTGAGAGCCACAGGGAAGGAGACCACGGGGTCCACACCACGCGGGCAGCCAGGGAGCCGGATGGACTCGAAGCGCACATCACGGTAGGTGCACACCACCTGAGGCAGGGGCGGCAGGACCGCCTGCAGCACGCGCATCTGGAGGCCGTGTGAGTGGGGGAATGAGCATGTGCCTGAGGCCAGCGCCTCAGCTGAGCTCCCAAGCTGACCCCACAGGTCCTGGACTCAGGAGCCCAGGAAGCCCTCTGTTCCTGCCTTCCCACACCCCATTCCCCAACCGCAGGCCAGAGAGGCAGACCACCCTTCCTCCCCCGCTGCCTCTGTGGGTCTGGCCCTGAGGTGGCAGCATCTGCCCCGGCCCCAGGCAGCTCACCATGGTGGGGCAGTAGCCGGCACAGATGGTGGTGTTGACGGTGATGCACACTGGGCAGCCCTCCTTCTCGACAGCCAGGATGGCATTGATGGGGTGGCACCATGGCCGAAGCGGCTCCCTGGATGCCCATGCCCCGCCCATGCTCAGCAGCAGCAACAGCAGCAGCCCCTGGGACAAGGACACTGCTTCACCCAGGTCTGAGACCGCAGCCCCGAGTCCTGGCCTTCCCATCCCGCGTGGTACACCACCCACAAAGACCCAGAGACCCTTCCCGGCATCTCCTATTCAGGACCCACCACCCGGACACCTGCCTTTCAGAGCCCACCCCACAGCCCAGAGGACCTGAGATGCCCCAACATTTCAGATCCCCACCCTCAGGAACTGCCCCACCTGAAGCTTACTGGGGGTCATGCCCCTCCAGAAAGAGGCCTCCTTCCACAGCTCACACGGGTCTGCCCCTTCTCATGCCAGTGATGGCCTGGAAGGAGGTGGAAGGTGCCCAGGGGCCCTGTAGTCTTACCTGGAGCATCTCCATCCTTGGTGCATCCCCTGCCTCGTGTATCTGGCTATATACCTCGGGGTTGTGGGGGCGGCAAGGCCACCAGGAGGTGATAGGATGCTGGGGTAACCTGGACACTAATCCCCCCGGGGGCGAGAGGTGCACATGGCCAGGGAGGCGCAGGAGTGGCTCAGCAGAGCGCCCCAGCCCTCTCCCCTCAGTGGTCTAGCGCCAGAGGTGAGGCAGAGACCACGGTGAAGTGACCTCAGAGACCCAGTTGTCGAGTGCTAGGGACTAGTCGAGCCTGGAGGCACAGGGAGTAGGGTGTAGGAAGGCCTGCCTCTGCCAATTGTGGGGTCTTGGGAGCCAGGAGGAGGCCATGACCCGAGAAAGGTGCTGGACTGAAGCCTCAACCCTCCACTTGAGGCTTTCCTGCACCACAGTCCAACCTAACAGGAGGGGCGCTGCTTCGGACTTAGCTTCTGCCCAGTGAGAGAGGGTCTCCCCGTGACTGTGCTGCCAGGGAAGCCACTTGACCCAGATGCCCCCAAGGAGGGATTAAGCCCGAGCCCCACCTCTCCCTTAGGGACCTCCGCCCACCCTACCCTCAAGCCAGGATGCCCGGAGCGTCCCCGGAAGTGGGTGTGGTTCAGGTGATTTAACTCATTATTTAATACGCCCGCAGGGTGCGTGTCTTGCCCCCGGGGCCACAGCCTGCAAGGACATTATCTGGACTTAGTCCCCTCTCCGTGATGCCGCAGCTGAGTGGGTGTCTGGGCTAGTCCCGCCCCCACGTTGCCAATAGACGTAATGAGTGCGACTCAGGCTGGGTCCGGAACCCTTCCTAGTGAGCGGAGGTCCCGAGCTCCGCTCGGCAGCGCGGCCCTGGGGGCGGGTCTGGGGTGGGGCTGGCCCTGACGGCTCACACCAGCGCCGGCTTCAAGCTGCCATAGCTGGAGTTCTCGGTACTGTAGGCTTTCGGCACGCTGTAGATGCCCCGCAGGGGCTTCCAGTGCGGGCCGCCCCAGGGCGCCTCCAGCGGGCAGAAGCGGTCGAGCCGCCGGAGCGGGTGCAGCAGGGGGCTGTAGGACTCCTGAGCCAGAGACAGGGCTCCCCGGTGCGGCATGGCCGAGGTCACCGGGCTGACGCGCGGCACGCGGACCCGCGGTGGTCGGGGCGGCCGGGAGGAGCGCGGACAGGGCGGCCGCTGCGGGCCGTGGCTCCAGACCTGGGGCGTCTCTTCGAAGCTCCAGTAGGTCAGGGAGTCCTTGCGGGGGTATCCGGACAGCTCCGTCCTGTGGGAGCAGGGCGGGATGGTGAGGATACAGCTGGATCCTTGGGGACGAGTTTCAGACCTCGGGATCTAAGGAGTCTGCACATTCAAACTCCTGCATTTCCAGGCGAGCACCCCTTAGGAAGGACGCGACCCGGCACGCGTTGCCTGCGTTCCTGGGTCCTCGAGGTACTTAACGTCCTGGAAACTGAGCTTTCGCATCCTAGGGAAGTAAAAGGGGACTTTCGCTTCCTTGGN | benign | 307,553 |
Considering the genetic mutation at chromosome 19, position 49171781, impacting TRPM4 (transient receptor potential cation channel subfamily M member 4): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | GTTTTTTGTAGAGACAGGGTTTTGCCATGCAGCCCAGGTGGCCTCAAACTCGTGGTCGAAAGTGGTCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACGGTCGTGAGCCACTGCGCCCAGCCAGCCAATATCTTATAATTTTATCAAAACATGAACAAGATACATTACTAGGTTTGAGGAAAGTTTTTGATTTTTGTGTATTTTTCTTGTATCAATCCTCTTACCAAATTTTCTTATTGATCTTTATTTTTATTTTTGGTGGGGTTTTCCAATTTTCTGGGAATACAAGCCATGTTTTCTTCAAATAGGTACTTTTGTCCCTTCCAGCTTTACAAAAAACCAAAAACCAAAAAATCAATTTTCACTTCAGTGATTTCATTTTTTTGCATTATTGAGTTAGCTCAAAACTCCAGGATGAATACAGTGTTAGTGGTAATGTGGTCTAGTTTCTAATTTATTTATTTATTTTTTTGAGAGGGAGTCCTGCTCTGTGCACAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACTTCTGCCTCCTAGGTTCAAGCGTTTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACGAGCCACCACTCCCAGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCTGGCCTAGTTTCTAATTTTAATGGAAGTAGAGTCGATATAGTGCTATCTTTATGGTGCAATTGGATTTTGGTAAATATCTATATTGTGGTTAGATAGCCCTTTCTATTCCCATTTCCTTTACTTTCTATTTGAACTTTCACTCCCTCTGGCTCCTGGATGGTTAATCAATGACAGGATTGACTCATACAAGAAACACCTGCCTCATTCAGGGACTCAGGAGTCTAGGTCCTCAGCCCCCTCCTCCCTGGGGAAGTTAAGCATTACTGTCTTCAAAATCTAGCTCCCTCCTGAAGTGTCCAAAGACATGACAATTCTGGCCAGGCGCGCTGGCTCACAGCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCCCTTGAGTCCAGGAATTCGAGACCAGCCTGGGCAAGATGGCAAGACCCCTGTCTCTACCAAAAATTAAAAAGTTAGCTGGGCACGGTGGTGTGTGCCTGTGGTCCCAGCTACTTAGAAGGCTAAAGTAGGAGGATCAAGATGTAGTGAGGTGTGATCATGCCCCTGCACTCTATCCTGGGCGATAGAGTGACACCCTGTTTCAGAAATTAGGCTGATGCGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGTCCAAGTTGGGAGGATTGCTTGAGGCCAGGAGTTCGAGACCACCCTGGCCAACATAGCAAGACCCCCATTTCTAAAATAAATACATAATTAAGTAAAAAAAGAAATGACAATTCCAATGAGCCTCTGAACAGAAGATTAGGACAAGGCTGATGTTTGCCGACTCCTGGGAAATGCGGTTTTCTCCTATCTCCAGCAAAGGCTGATGGGAGGTAATCAAGCCCCCTTCTCTTCTTGCCTCAGGGACTGGAATTGACATCCCTGTCCTGCTCCTCCTGATTGATGGTGATGAGAAGATGTTGACGGTATAGGGGCCCGGATGCCCGGATCTAAGGGGGAAGGAGGGTTGGGGGCCAGGACTCCTGGGTCCTGAGTCTTAGGGAGGGTCTGGGGGTCTGACTCCGGGTAGGGTGAATATCCTGCCTTTTCTGACGTGATGAATAAAGAATGCCTTTATCCTGTAGCGAATAGAGAACGCCACCCAGGCTCAGCTCCCATGTCTCCTCGTGGCTGGCTCAGGGGGAGCTGCGGACTGCCTGGCGGAGACCCTGGAAGACACTCTGGCCCCAGGGAGTGGGGGAGCCAGGCAAGGCGAAGCCCGAGATCGAATCAGGCGTTTCTTTCCCAAAGGGGACCTTGAGGTCCTGCAGGCCCAGGTATGACACTGGGGGCCCAACTCTGGATCCTGAGATGGGAGGGAACTGGGGACTTGGGCTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTTCCAGGTTCCGGGAGAAGAGGGTGCTGGGCATATAGACTATTAGGTCCTGGAGGGGAATGGCCTCCTCCATCCCTTTGGACAGGGCCCAACAGGAGTTGGGGATGGAGGCGGGCTAGGGATGCAGAACTGGCTATTCCACAGGTGGAGAGGATTATGACCCGGAAGGAGCTCCTGACAGTCTATTCTTCTGAGGATGGGTCTGAGGAATTCGAGACCATAGTTTTGAAGGCCCTTGTGAAGGGTAAAAGTTGTACCCTCCAGTCTTCCCCCTCTCTCAGTTCAACCTTAGACACCTTTCCTGGCCTGGGCACTTCATCCACCCTCTCTAATCCAAGGCCCATGCCCCCTTTACCCCTCTTAATATTTTTCCCCTTTGGGGCTTTGCATGGTGCTATTTGGGCAGTTTTCCCAGATGCTTTCATTATGTTCCAGCATCTGCTTTCCTCTGTTGGATCCATCCATCCATTCTTTCATCTTTCCATCCATCCACATGTACAGATCGATCTTTCCATCTCTTTACCTACCATCCTTCCAGTCATCCCTCATTCTTTCATCCATCCATCCTTTCACCTGTCCATCCACACATCCACTGACAATTCCTGAGAATTCCATCCGCTCATTCCTCCATCCGTCTTCTCACCTGTCCATCCACACATCCACTGACAATTCCATTCAGTCATTCTTCCATCCATCCATCTTCTCACCTGTCCATCCATGCATCCACTGACAATTCCTGAGAATGCCATCTGCTCATTCTTCCATCCATCCATCTTCTCACCTGTCCATCTACACATCCACCGAAAATTCCTGAGAATTCCATCCACTCATTCCTCCATCCATCCATCTTCTCACCTGTCCATCCACACATCCACTGACAATTCCATTCACTCATTCTTCCATCCATCCATCTTCTCACCTGTCCATCCACACATCCACTGACAATTCCTGAGAATGCCATCCGCTCATTCCTCCATCCGTCTTCTCACCTGTCCATCCACACATCCACTGACAATTCCTGAGAATTCCATCCGCTCATTCCTCCATCCGTCTTCTCACCTGTCCATCCACACATCCACTGACAATTCCATCCACTTATTGTTCCATCCATCCATCTTCTCACCTGTCCATCCACACATCCACTGAAAATTCCATTCACTCATTCTTCCATCCATCCATCTTCTCACCTGTCCATCCACACATCCACTGACAATTCCATTCACTTATTCTTCCATCCATCCATCTTCTCACCTGTCCATCCATGCATCCACTGACAATTCCTGAGAATGCCATCTGCTCATTCTTCTATCCATCCATCTTCTCACCTGTCCATCTGCACATCCACTGAAAATTCCTGAGAATTCCATCTACTCATTCCTCCATCCATCCATCTTCTCACCTGTCCATCCACACATCCACTGACAATTCCTGAGAATTCCATCCGCTCATTCCTCCATCCATCCATCTTCTCACCTGTCCATCCACACATCCACTGACAATTCCATTCACTCATTCCTCCATCCACCCATCTTCCATCCATTTACCCATCTACCCATCCATCTTTTCATTCATCCATCCAACTGTTCTTCCATCTATCCATCCACCCACCCATTCTTCCTTCCCTACATGCTTCCAATATACATGAAGCACTCTGGCTAGACATGAACCAAAGCACTGTCTCCCAGTGAGGAAGTCCAGATATTTCACTAGAAATGGCAGCTTGGAGGACGGAATGATGAAAACCAAGGCGGGGGAGCATAATGCACACCTGGGAGAGGCTGGGGAGGGTCTTATTTATTTATTCACTTATTGAGACAGGGTCTTGCTCTGTAGGCCAAGCTGGAGTATAGTGGTGTGATCACGGCTCAGTGCAGCCTCAACCTCCCAGGCTCAAGTGATCCTCCCACCCCAGCCTTCCAAGTAGCTGGGAACATACCCGCCCACCACTACACCTGGTAAATTAA | GTTTTTTGTAGAGACAGGGTTTTGCCATGCAGCCCAGGTGGCCTCAAACTCGTGGTCGAAAGTGGTCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACGGTCGTGAGCCACTGCGCCCAGCCAGCCAATATCTTATAATTTTATCAAAACATGAACAAGATACATTACTAGGTTTGAGGAAAGTTTTTGATTTTTGTGTATTTTTCTTGTATCAATCCTCTTACCAAATTTTCTTATTGATCTTTATTTTTATTTTTGGTGGGGTTTTCCAATTTTCTGGGAATACAAGCCATGTTTTCTTCAAATAGGTACTTTTGTCCCTTCCAGCTTTACAAAAAACCAAAAACCAAAAAATCAATTTTCACTTCAGTGATTTCATTTTTTTGCATTATTGAGTTAGCTCAAAACTCCAGGATGAATACAGTGTTAGTGGTAATGTGGTCTAGTTTCTAATTTATTTATTTATTTTTTTGAGAGGGAGTCCTGCTCTGTGCACAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACTTCTGCCTCCTAGGTTCAAGCGTTTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACGAGCCACCACTCCCAGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCTGGCCTAGTTTCTAATTTTAATGGAAGTAGAGTCGATATAGTGCTATCTTTATGGTGCAATTGGATTTTGGTAAATATCTATATTGTGGTTAGATAGCCCTTTCTATTCCCATTTCCTTTACTTTCTATTTGAACTTTCACTCCCTCTGGCTCCTGGATGGTTAATCAATGACAGGATTGACTCATACAAGAAACACCTGCCTCATTCAGGGACTCAGGAGTCTAGGTCCTCAGCCCCCTCCTCCCTGGGGAAGTTAAGCATTACTGTCTTCAAAATCTAGCTCCCTCCTGAAGTGTCCAAAGACATGACAATTCTGGCCAGGCGCGCTGGCTCACAGCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCCCTTGAGTCCAGGAATTCGAGACCAGCCTGGGCAAGATGGCAAGACCCCTGTCTCTACCAAAAATTAAAAAGTTAGCTGGGCACGGTGGTGTGTGCCTGTGGTCCCAGCTACTTAGAAGGCTAAAGTAGGAGGATCAAGATGTAGTGAGGTGTGATCATGCCCCTGCACTCTATCCTGGGCGATAGAGTGACACCCTGTTTCAGAAATTAGGCTGATGCGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGTCCAAGTTGGGAGGATTGCTTGAGGCCAGGAGTTCGAGACCACCCTGGCCAACATAGCAAGACCCCCATTTCTAAAATAAATACATAATTAAGTAAAAAAAGAAATGACAATTCCAATGAGCCTCTGAACAGAAGATTAGGACAAGGCTGATGTTTGCCGACTCCTGGGAAATGCGGTTTTCTCCTATCTCCAGCAAAGGCTGATGGGAGGTAATCAAGCCCCCTTCTCTTCTTGCCTCAGGGACTGGAATTGACATCCCTGTCCTGCTCCTCCTGATTGATGGTGATGAGAAGATGTTGACGGTATAGGGGCCCGGATGCCCGGATCTAAGGGGGAAGGAGGGTTGGGGGCCAGGACTCCTGGGTCCTGAGTCTTAGGGAGGGTCTGGGGGTCTGACTCCGGGTAGGGTGAATATCCTGCCTTTTCTGACGTGATGAATAAAGAATGCCTTTATCCTGTAGCGAATAGAGAACGCCACCCAGGCTCAGCTCCCATGTCTCCTCGTGGCTGGCTCAGGGGGAGCTGCGGACTGCCTGGCGGAGACCCTGGAAGACACTCTGGCCCCAGGGAGTGGGGGAGCCAGGCAAGGCGAAGCCCGAGATCGAATCAGGCGTTTCTTTCCCAAAGGGGACCTTGAGGTCCTGCAGGCCCAGGTATGACACTGGGGGCGGGCCCAACTCTGGATCCTGAGATGGGAGGGAACTGGGGACTTGGGCTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTTCCAGGTTCCGGGAGAAGAGGGTGCTGGGCATATAGACTATTAGGTCCTGGAGGGGAATGGCCTCCTCCATCCCTTTGGACAGGGCCCAACAGGAGTTGGGGATGGAGGCGGGCTAGGGATGCAGAACTGGCTATTCCACAGGTGGAGAGGATTATGACCCGGAAGGAGCTCCTGACAGTCTATTCTTCTGAGGATGGGTCTGAGGAATTCGAGACCATAGTTTTGAAGGCCCTTGTGAAGGGTAAAAGTTGTACCCTCCAGTCTTCCCCCTCTCTCAGTTCAACCTTAGACACCTTTCCTGGCCTGGGCACTTCATCCACCCTCTCTAATCCAAGGCCCATGCCCCCTTTACCCCTCTTAATATTTTTCCCCTTTGGGGCTTTGCATGGTGCTATTTGGGCAGTTTTCCCAGATGCTTTCATTATGTTCCAGCATCTGCTTTCCTCTGTTGGATCCATCCATCCATTCTTTCATCTTTCCATCCATCCACATGTACAGATCGATCTTTCCATCTCTTTACCTACCATCCTTCCAGTCATCCCTCATTCTTTCATCCATCCATCCTTTCACCTGTCCATCCACACATCCACTGACAATTCCTGAGAATTCCATCCGCTCATTCCTCCATCCGTCTTCTCACCTGTCCATCCACACATCCACTGACAATTCCATTCAGTCATTCTTCCATCCATCCATCTTCTCACCTGTCCATCCATGCATCCACTGACAATTCCTGAGAATGCCATCTGCTCATTCTTCCATCCATCCATCTTCTCACCTGTCCATCTACACATCCACCGAAAATTCCTGAGAATTCCATCCACTCATTCCTCCATCCATCCATCTTCTCACCTGTCCATCCACACATCCACTGACAATTCCATTCACTCATTCTTCCATCCATCCATCTTCTCACCTGTCCATCCACACATCCACTGACAATTCCTGAGAATGCCATCCGCTCATTCCTCCATCCGTCTTCTCACCTGTCCATCCACACATCCACTGACAATTCCTGAGAATTCCATCCGCTCATTCCTCCATCCGTCTTCTCACCTGTCCATCCACACATCCACTGACAATTCCATCCACTTATTGTTCCATCCATCCATCTTCTCACCTGTCCATCCACACATCCACTGAAAATTCCATTCACTCATTCTTCCATCCATCCATCTTCTCACCTGTCCATCCACACATCCACTGACAATTCCATTCACTTATTCTTCCATCCATCCATCTTCTCACCTGTCCATCCATGCATCCACTGACAATTCCTGAGAATGCCATCTGCTCATTCTTCTATCCATCCATCTTCTCACCTGTCCATCTGCACATCCACTGAAAATTCCTGAGAATTCCATCTACTCATTCCTCCATCCATCCATCTTCTCACCTGTCCATCCACACATCCACTGACAATTCCTGAGAATTCCATCCGCTCATTCCTCCATCCATCCATCTTCTCACCTGTCCATCCACACATCCACTGACAATTCCATTCACTCATTCCTCCATCCACCCATCTTCCATCCATTTACCCATCTACCCATCCATCTTTTCATTCATCCATCCAACTGTTCTTCCATCTATCCATCCACCCACCCATTCTTCCTTCCCTACATGCTTCCAATATACATGAAGCACTCTGGCTAGACATGAACCAAAGCACTGTCTCCCAGTGAGGAAGTCCAGATATTTCACTAGAAATGGCAGCTTGGAGGACGGAATGATGAAAACCAAGGCGGGGGAGCATAATGCACACCTGGGAGAGGCTGGGGAGGGTCTTATTTATTTATTCACTTATTGAGACAGGGTCTTGCTCTGTAGGCCAAGCTGGAGTATAGTGGTGTGATCACGGCTCAGTGCAGCCTCAACCTCCCAGGCTCAAGTGATCCTCCCACCCCAGCCTTCCAAGTAGCTGGGAACATACCCGCCCACCACTACACCTGGTAAA | benign | 307,666 |
Gene TRPM4 (transient receptor potential cation channel subfamily M member 4) variant at chromosome position 49196501 on chromosome 19: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | CAGGCTGGTCTCAAATTCGAAGGCTTAAGTGATCTTCCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGCATACACCACTGCGCTTGGCCTCACTTATTTCCTTCCTTCCTCCTTCCTTCCTTCTTTCCTTCCTTCCTTTCCTTTCCTTTTCTTTCCTTCCTTCCTTTCTTTCCTTCCCTTTCTTTCTCTCTCTCTTTCTCTCTCTGTCCCTCCCTCCCTTCCTTCCTTCTTTTCTTCCTTCCTTCCTCCCTCTCTTTTCTTTCTTTCTCTATCTCCTTCCCTCCCTCCCTCTCTCCCTCCCCCCAACCCTTCCTTCCTCCCTTCTGAGACAAGGTCTCACTCTGTTGCCTCCGCTGAAGTATAGTAGCTTGATCTTGGCTCACTGCAGCCTCAACCTCCCAGTGTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTGCAGGTATAAACACACCTGGCTAATTTTTTTTTTTTTTTCTGTAGAGATGGGGTTTCACCATGTTGCCCAGGCTGGTGTTGAACTCCTGGGCTCAAGCAATCTGCTCACCTTGGCCTCCCAAAGTGCTGGGATTTCAGGCTTGAGCTACCACGCCCAGCCTCACTTTTTTTTCTTTTTTTTTAAATGGCAGCTTTATTGAGCTGTAATCCACATATCATACCGTTCACTTACTTAAGGTATACAATTCAGTGCTTCTTGGTGTACTCACAGAATTGTGAAATCATTTCCACAATTCATTTTCAAATATTGTCATCACTCCAACAAGAAACTCTGTACATGCTTAGCACTGCTTTTCGTTTTCCCAGCCCTAGGCCACCATTCATGTACCTGCTGTCTCTGGGTTTGCCTGTTTTGCACACTTCACATAAGTGGAGCCATGCACTCTATGGTCTTTTCTTCTTCTTCTTCTTTATTTTTTTATTTTTTGAGACGGAGTTTTGCTCTCGTTGCCCAGGCTGGAGTCAATGGCGCGACCTCAGTTCACCACAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCATCAGCCTGTCAAGTAGCTGGGATTACAGGCATGCGCCACCACGCCAGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGCTGATCTGCCTGCCTCGGCCTCCCCAAATGCTGGGATTACAAGCGTGAGCTAGCGCGCCCAGCCCGTTTCTACTTTAATTTTTTTTTTTTTTTTTTTAGACAGGGTCTCGCTCTATTGCCCAAGCTGGAGTGCAGTGGCATGTTCATGGCTGACTGCAGCCTGGGCCTCCTGTACTCAAGTGATCCTCCCATTTCAGCCTCCCCAGTAGCTGGGACTACAGGTGCTTGCCCCTACTACTGGCTAAATTTTTATTTTTATTTATTTTATTATTATTATTATTATTATTTTTGAGACAGAGTCTCACTCTGTCGCCTAGGCTGCAGTGCATTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCCGCCTCAGCCTCCCGAGTATGTGGGACTACTGGCATGCGCCACCAGACCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCCTACCTCAGGTGATCTGCCCGCCTTAACTCCCAAAGTGCTGCGATTACAGGCGTGAGCCACCGCGCCCGATCCGGGTATATTTTTAAAATATTTTTTGTAGAGATGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCCAACTCCTCGGCTCAAGCGATCAATCCACCTCTTGACCGGAGATTTCAGAGGTCAGAGGTTAGATACAAGAGTCAAAACCCAAGAAATTAGCTCTGGGCAGACTGAGTTTCGGGTCAGGCAGGGTGAGATGTGCCAAGCCAAAAGTCTCGATGATGGTGGAGATCAGGACTCAGAGGTCAGAGTGAGGCCTCCTCCCTTCTCTTCTCTTCCCCCACAGGACGGCGGACCCAGCCGAGAAGACGCCGCTGGGGGTCCCGCGCCAGTCGGGCCGTCCGGGTTGCTGCGGGGGCCGCTGCGGGGGGCGCCGGTGCCTACGCCGCTGGTTCCACTTCTGGGGCGCGCCGGTGACCATCTTCATGGGCAACGTGGTCAGCTACCTGCTGTTCCTGCTGCTTTTCTCGCGGGTGCTGCTCGTGGATTTCCAGCCGGCGCCGCCCGGCTCCCTGGAGCTGCTGCTCTATTTCTGGGCTTTCACGCTGCTGTGCGAGGAACTGCGCCAGGGCCTGAGCGGAGGCGGGGGCAGCCTCGCCAGCGGGGGCCCCGGGCCTGGCCATGCCTCACTGAGCCAGCGCCTGCGCCTCTACCTCGCCGACAGCTGGAACCAGTGCGACCTAGTGGCTCTCACCTGCTTCCTCCTGGGCGTGGGCTGCCGGTGAGTGCCCCGGGGCCTTGGAACCCTGGCCCCTGGCCACCTCTCATCCTTCCTGCCCACTCCCGGGGTCTCCACTCCCGGCTTCCCCGCAGCTGGGCAGCAGGTCAAGCCAACCCTGCTGATTGAGAACCCCTCTTAGGAAAGTCGGGCATGACGATTGCCCCAGGGTAATTGGCTGGCACCTGGAGATCTGGCTTCAGGGACGGCAGGATTCAGGAGAAAACCCCACTGTCCGCCACTCAGCCTCTGCTGCTATTTATTGCTAGGCCTGAAGTTTAACAGATATTTATGGGAGCGCCCCGACCTGGGTGCCAACCTCACCTCCTCCCTTCTCTTCCTCCACATAGCTCGTTGGTCCCAGGCCCCTTGCCCTCCTGCCCCCGACTTTTTCTTTCTTTCCTTTTTTTTTCTTTCTTTCTTTCTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTTTCTTTTCTTTCTTTCTCTTTTCTTTTCCTTTCTTTTCTTTTTCTTTTTCTCTTTTCTTTCTCTCTCTCTCCCTCTGTCCTCTGCCCCTCTGCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTATGCTTCCTTCCATCCCTCCAAGCTAAGGGTTTAACCCTTGCCCTGCCTGCATTATGGAGTATCCTGCATTAGGATACTCCTCCTTTTGAGGAGAGCAAACAGAAAAGTTTGTGGATACAACCTGGTGACTGGTTTTTTGTTTGTTTGTTTGTTTTTGTTTTCTTTCTTTTCTTTTTTTTTTTTGAGCCAGAGTTCCGCTGTGTCGCCCAGACTGGAGTGCAGTGGTACGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCTTGCCTCAGCCTCGTGAGTAGCTGGGATTACAGGCATGCACCACTACACCTAGCTAAATTTTTTTTGTATTTTTTTTGTAGAGATGGGGCTTTGCCATATTGACCAGGCTGGTCTTGAACTCTTGGCCTCAAGTGATCCACTGGCCTTAGCCTCTGAAAGTGCTGAGATTACAGATGTGGGTCACCGTGCCTGGCCAACAACCTGGTGACTGTTTACAAGGGACCTGACACATCCTGAATGGTTGACAGTGATGACAGTGATGATCCCTACTCAAGCTTTTCCCAGTAGACACGCTGAGAGGCAGGCTTCCTCTAAGCTATGTTAGCAGTGTTACAAAGTGATTCAACATAAATAATTTATTCAAGCAGGGAGCAAGATATGAGAGTTTTGCAGAACACTAATACTTCTGTTTGTAATTTGTTGTATTTTGTATAAAGTGACTTTTGAGATGAAAGGGCTAAGGCCATATGCTACCATGCTCTAGGATTGCCAGTGATATTTTGGACAGTTTATCAAGCCTACCACTTTCCAGGTGAAAAATGGAAAGATCTCAGCTTAAAAGGGAGAAACGGGCCTGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGATCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCT | CAGGCTGGTCTCAAATTCGAAGGCTTAAGTGATCTTCCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGCATACACCACTGCGCTTGGCCTCACTTATTTCCTTCCTTCCTCCTTCCTTCCTTCTTTCCTTCCTTCCTTTCCTTTCCTTTTCTTTCCTTCCTTCCTTTCTTTCCTTCCCTTTCTTTCTCTCTCTCTTTCTCTCTCTGTCCCTCCCTCCCTTCCTTCCTTCTTTTCTTCCTTCCTTCCTCCCTCTCTTTTCTTTCTTTCTCTATCTCCTTCCCTCCCTCCCTCTCTCCCTCCCCCCAACCCTTCCTTCCTCCCTTCTGAGACAAGGTCTCACTCTGTTGCCTCCGCTGAAGTATAGTAGCTTGATCTTGGCTCACTGCAGCCTCAACCTCCCAGTGTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTGCAGGTATAAACACACCTGGCTAATTTTTTTTTTTTTTTCTGTAGAGATGGGGTTTCACCATGTTGCCCAGGCTGGTGTTGAACTCCTGGGCTCAAGCAATCTGCTCACCTTGGCCTCCCAAAGTGCTGGGATTTCAGGCTTGAGCTACCACGCCCAGCCTCACTTTTTTTTCTTTTTTTTTAAATGGCAGCTTTATTGAGCTGTAATCCACATATCATACCGTTCACTTACTTAAGGTATACAATTCAGTGCTTCTTGGTGTACTCACAGAATTGTGAAATCATTTCCACAATTCATTTTCAAATATTGTCATCACTCCAACAAGAAACTCTGTACATGCTTAGCACTGCTTTTCGTTTTCCCAGCCCTAGGCCACCATTCATGTACCTGCTGTCTCTGGGTTTGCCTGTTTTGCACACTTCACATAAGTGGAGCCATGCACTCTATGGTCTTTTCTTCTTCTTCTTCTTTATTTTTTTATTTTTTGAGACGGAGTTTTGCTCTCGTTGCCCAGGCTGGAGTCAATGGCGCGACCTCAGTTCACCACAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCATCAGCCTGTCAAGTAGCTGGGATTACAGGCATGCGCCACCACGCCAGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGCTGATCTGCCTGCCTCGGCCTCCCCAAATGCTGGGATTACAAGCGTGAGCTAGCGCGCCCAGCCCGTTTCTACTTTAATTTTTTTTTTTTTTTTTTTAGACAGGGTCTCGCTCTATTGCCCAAGCTGGAGTGCAGTGGCATGTTCATGGCTGACTGCAGCCTGGGCCTCCTGTACTCAAGTGATCCTCCCATTTCAGCCTCCCCAGTAGCTGGGACTACAGGTGCTTGCCCCTACTACTGGCTAAATTTTTATTTTTATTTATTTTATTATTATTATTATTATTATTTTTGAGACAGAGTCTCACTCTGTCGCCTAGGCTGCAGTGCATTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCCGCCTCAGCCTCCCGAGTATGTGGGACTACTGGCATGCGCCACCAGACCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCCTACCTCAGGTGATCTGCCCGCCTTAACTCCCAAAGTGCTGCGATTACAGGCGTGAGCCACCGCGCCCGATCCGGGTATATTTTTAAAATATTTTTTGTAGAGATGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCCAACTCCTCGGCTCAAGCGATCAATCCACCTCTTGACCGGAGATTTCAGAGGTCAGAGGTTAGATACAAGAGTCAAAACCCAAGAAATTAGCTCTGGGCAGACTGAGTTTCGGGTCAGGCAGGGTGAGATGTGCCAAGCCAAAAGTCTCGATGATGGTGGAGATCAGGACTCAGAGGTCAGAGTGAGGCCTCCTCCCTTCTCTTCTCTTCCCCCACAGGACGGCGGACCCAGCCGAGAAGACGCCGCTGGGGGTCCCGCGCCAGTCGGGCCGTCCGGGTTGCTGCGGGGGGCGCCGGTGCCTACGCCGCTGGTTCCACTTCTGGGGCGCGCCGGTGACCATCTTCATGGGCAACGTGGTCAGCTACCTGCTGTTCCTGCTGCTTTTCTCGCGGGTGCTGCTCGTGGATTTCCAGCCGGCGCCGCCCGGCTCCCTGGAGCTGCTGCTCTATTTCTGGGCTTTCACGCTGCTGTGCGAGGAACTGCGCCAGGGCCTGAGCGGAGGCGGGGGCAGCCTCGCCAGCGGGGGCCCCGGGCCTGGCCATGCCTCACTGAGCCAGCGCCTGCGCCTCTACCTCGCCGACAGCTGGAACCAGTGCGACCTAGTGGCTCTCACCTGCTTCCTCCTGGGCGTGGGCTGCCGGTGAGTGCCCCGGGGCCTTGGAACCCTGGCCCCTGGCCACCTCTCATCCTTCCTGCCCACTCCCGGGGTCTCCACTCCCGGCTTCCCCGCAGCTGGGCAGCAGGTCAAGCCAACCCTGCTGATTGAGAACCCCTCTTAGGAAAGTCGGGCATGACGATTGCCCCAGGGTAATTGGCTGGCACCTGGAGATCTGGCTTCAGGGACGGCAGGATTCAGGAGAAAACCCCACTGTCCGCCACTCAGCCTCTGCTGCTATTTATTGCTAGGCCTGAAGTTTAACAGATATTTATGGGAGCGCCCCGACCTGGGTGCCAACCTCACCTCCTCCCTTCTCTTCCTCCACATAGCTCGTTGGTCCCAGGCCCCTTGCCCTCCTGCCCCCGACTTTTTCTTTCTTTCCTTTTTTTTTCTTTCTTTCTTTCTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTTTCTTTTCTTTCTTTCTCTTTTCTTTTCCTTTCTTTTCTTTTTCTTTTTCTCTTTTCTTTCTCTCTCTCTCCCTCTGTCCTCTGCCCCTCTGCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTATGCTTCCTTCCATCCCTCCAAGCTAAGGGTTTAACCCTTGCCCTGCCTGCATTATGGAGTATCCTGCATTAGGATACTCCTCCTTTTGAGGAGAGCAAACAGAAAAGTTTGTGGATACAACCTGGTGACTGGTTTTTTGTTTGTTTGTTTGTTTTTGTTTTCTTTCTTTTCTTTTTTTTTTTTGAGCCAGAGTTCCGCTGTGTCGCCCAGACTGGAGTGCAGTGGTACGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCTTGCCTCAGCCTCGTGAGTAGCTGGGATTACAGGCATGCACCACTACACCTAGCTAAATTTTTTTTGTATTTTTTTTGTAGAGATGGGGCTTTGCCATATTGACCAGGCTGGTCTTGAACTCTTGGCCTCAAGTGATCCACTGGCCTTAGCCTCTGAAAGTGCTGAGATTACAGATGTGGGTCACCGTGCCTGGCCAACAACCTGGTGACTGTTTACAAGGGACCTGACACATCCTGAATGGTTGACAGTGATGACAGTGATGATCCCTACTCAAGCTTTTCCCAGTAGACACGCTGAGAGGCAGGCTTCCTCTAAGCTATGTTAGCAGTGTTACAAAGTGATTCAACATAAATAATTTATTCAAGCAGGGAGCAAGATATGAGAGTTTTGCAGAACACTAATACTTCTGTTTGTAATTTGTTGTATTTTGTATAAAGTGACTTTTGAGATGAAAGGGCTAAGGCCATATGCTACCATGCTCTAGGATTGCCAGTGATATTTTGGACAGTTTATCAAGCCTACCACTTTCCAGGTGAAAAATGGAAAGATCTCAGCTTAAAAGGGAGAAACGGGCCTGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGATCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTNNNNNNNNNNNN | benign | 307,731 |
A genetic alteration at chromosome 19, position 49200439, in gene TRPM4 (transient receptor potential cation channel subfamily M member 4)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGATCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGATAATTGCCTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGTGAAAAGAGCAAAACTCTGTCAAAAAAAAAAAAAAAAAAAAAAGGGAGAAATGTCTAATCATCTCCGGAATTGAATGGATGAATCATCCTTTGTTTCGCCAGTTCCCTCTAGATGGACATTTAGGTTCTCTCTTTCTTTCTTTTTTTGTTTTAAATAGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGTCTCAAACTCCAGGGCTCAAGCAATCCTCCCACCTTGGCCTCTCAAAGTGCTGGGATTACAGGCGTGAGCTACTATGCTCAGCCTTCTGTTTTTTTATTATTCCAAAATAATAAAAGTTTACATCCCAGATGTAAAGTTTATGGGTCAAAGGGTACATTTATTTTTGACATGGATAGATTTCCTTCTAAGTAGCTTCACTCATTTCCACACCTGCCATCAGGGTAAGAGAGTGCCCCCTTGAGGCCATGCTCGACAATGCCTGATACTTTCACTCTAAAATGTAGCTCTCAATTTAACTGAAAAAAAATTTGCCAATTTAATGGGTAAACATGACCTCTCCTTGTTATAATTTATGCACTCTTGACTACCAGATAGGTTGGACATCTTTTCCTAAGCTTAATGGCCATATGTCCTTGTGCCCCCTTGTTTTTTTTTTGGTTTTTGTTTTTGTTTTTGTTTTTGAGACGGAGTCTCGCTCTGTAGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTACTGAGTAGCTGGGACTACAGGTGCCTGCCTCCACGCCCGGCTAATTTTTTGTATTTTGTAGTAGAGACGGGGTTTCACCGTGTTAGCCAAGATGTTCTCGATCTCCTGACCCCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACTGCGACCGGCCACCCTCCCGTTTTTTTAATTGGGGTTCATTGATTTGTATATGTATAAATGTATATACTCCTTATACTCTGGATCCTAATCCTCGGTAGTTTTGTTGGTCTTAATATCTTCATATCTTCTCGAAGTCTGTGGCTTGTCTTTTCACTTTCACTTTTGTATGTTTCTTTTCTTTTCTTTTTTTTGAGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGTCTGTCCATACACTAGGTTTTTAATCCATCCAAAGTTTAAGTACATGAGGATGCAAAATAGGGGTAGAATTTTTATTTTCCCCATAGGAATTATTGATGTTTACTGGCCGTTTGAACGTCCTCTGTGAATTGTACGTGGTATCCTTTATCTGGCTTCCTTCCTTTTGCGTATTAGTTTGTAAGGACTCTATATGTTTTGCCTTTTATAGGTTGGACAGATATTCCGGCAGTTTTTCCAGCTTGATTCTTACAGGGACCAGCTCTTTGCTAAGGCCATCGTTCATTCAGTCATTACTTAATAGGCGCAGCCATTTTAAAAATGGGTGCCAGGGCCCTGCATGGACCAGCTTGGTACTGAATAAATTTGAGTAAACCCCGGGTGACTGGGAGGGTCCTGGTCCTGCCCGGTGGAGGCTGCAGCTTCCTCTGAAGGATGGCATTGGGAAGACTTCCATTTTCCTTGGCGTCTTGTGACACTTGACCCTTGTGGCATCTCCCCACACCCCAGGCTGACCCCGGGTTTGTACCACCTGGGCCGCACTGTCCTCTGCATCGACTTCATGGTTTTCACGGTGCGGCTGCTTCACATCTTCACGGTCAACAAACAGCTGGGGCCCAAGATCGTCATCGTGAGCAAGATGGTGAGGCAGGGGCGGGGCCAAAGTGGGCGGGGACATAGGGAAAGGGGTGGGGCCAGGGAGGGAGTGGTCCGTGGAGAAGGGGCGTGACTTTGGGGAGCAATGGGGCGTGTTTTTGGGATATAGGGGTGGGGCCAGAGTAGGAAAGGGCGGGGCCAGACTCAGCCACATCTCCCCACAGATGAAGGACGTGTTCTTCTTCCTCTTCTTCCTCGGCGTGTGGCTGGTAGCCTATGGCGTGGCCACGGAGGGGCTCCTGAGGCCACGGGACAGTGACTTCCCAAGTATCCTGCGCCGCGTCTTCTACCGTCCCTACCTGCAGATCTTCGGGCAGATTCCCCAGGAGGACATGGACGGTAGGGGGGATGACGGCCTGACAGCCTTCCTCTGAGTCTCTGTCCCCGCTCCCTGGGTCTCTGTCCTCCTGGCTCTAAGAAAATATCTGTCTCTCTGAGTCTCTGTCTCCCTCTTTCTCTGGATCTCTGAGTGATACCCTATATTCCCCATCATCATCTCTCTGGGTCTCTGCCTACCCCACCCCCTCTGTCTTTCTGTCTGTCTTTCTTTTTTCTTTTTTTTTTTCTTTTTTTTTGAGATGGATGTTAGAAATGTTTATTTTGTGGTGTCGTAAAGAAATAGTACTTGAACATAAATTTAATTTTTTTAGTAAAGCCATTTTTATTTTTTGTAGAAAGGGTACACTCGCCAGCAGTTTTGTCATGAGAGTACACGGAACAAAGGAGATAGGGTCATTTATAACCTGACGCGTCTATTTTACTGCTGTGTCTGGTTTTTATTGGCTGGAACCGGACTTTACATTTTGTATTTGTCTTGATTGGCTAGTAACTTAGAAGTTTTTAAAAGAAGCGAAGGCAGAGGAGAACAAAGGAAGGAGGAAGTAACTTGTGGAATGTTGAGAAAGGTAAAAACACTTTTAAATAAGGAAGAGGAACAGGCTATGATCTAATGCTTGCTTGAACCAGTATAAGTATGTCAGGGCAAATATTTAGGCTAAATTGTGAGAGCTAAGAACATAAAGTACATTGATTTATTTTTTATGGCTAGTAGATATTTAAGAATGTTAGCACAGGTGTTTGAATAAATTTTGTTTCTAAGAGAAGTTACTATTTATTGTTAATTAGATGGGGAGGAAAGTCTTTGAAGAGGAACCTGTACTTTACTTTTTACATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCCACCTCCCAGATCGAAGCGATTCTCCTATCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCGTGCCACCACGCCTGGCTAACAGTTTTGTGTTTTTAGTAGAGATGGGGTTTCATCACATTGGTCAGGCTAGTCTCAAACTCCCCACCTCAGGTGATCCGGCCATCTCAGCCTCCCAAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCAGTCTTCCTGTCTTTCTTAGGTCTCTGTCCCCCTCACCCCATCTCTGAATGTCTCTCTTCACAGTGGCCCTCATGGAGCACAGCAACTGCTCGTCGGAGCCCGGCTTCTGGGCACACCCTCCTGGGGCCCAGGCGGGCACCTGCGTCTCCCAGTATGCCAACTGGCTGGTGGTGCTGCTCCTCGTCATCTTCCTGCTCGTGGCCAACATCCTGCTGGTCAACTTGCTCATTGCCATGTTCAGGTGAGGCCTGACTGCTCTCTGATCTGACCCCACCCAGCATGACCCGTGGCCCTCTCATGACTCTTGAACCCCGTCTAATGAATTCTGTTTTTAGTCCCTGAACTCTGATCCAATCTAATGCTGCCTTCTCCCCAAACCCAACCAGACCCTGCTTGTAATTTGGACTTTGGACTGATCCTCTCCCTGAGCCCAGGTTGAACTTCCTTATTTGTATTTTTTTGAGACAGGGTCTCACTCTGTCGCCAAGGCTAGAGTGTGGTGATGTGATCGTAGCTTACTGCAGCCTCGACCTCCTGGACTCAAGCAATCCTCCTGCCTTCGCCCCATAAGTAGCTGGGACTACTT | AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGATCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGATAATTGCCTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGTGAAAAGAGCAAAACTCTGTCAAAAAAAAAAAAAAAAAAAAAAGGGAGAAATGTCTAATCATCTCCGGAATTGAATGGATGAATCATCCTTTGTTTCGCCAGTTCCCTCTAGATGGACATTTAGGTTCTCTCTTTCTTTCTTTTTTTGTTTTAAATAGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGTCTCAAACTCCAGGGCTCAAGCAATCCTCCCACCTTGGCCTCTCAAAGTGCTGGGATTACAGGCGTGAGCTACTATGCTCAGCCTTCTGTTTTTTTATTATTCCAAAATAATAAAAGTTTACATCCCAGATGTAAAGTTTATGGGTCAAAGGGTACATTTATTTTTGACATGGATAGATTTCCTTCTAAGTAGCTTCACTCATTTCCACACCTGCCATCAGGGTAAGAGAGTGCCCCCTTGAGGCCATGCTCGACAATGCCTGATACTTTCACTCTAAAATGTAGCTCTCAATTTAACTGAAAAAAAATTTGCCAATTTAATGGGTAAACATGACCTCTCCTTGTTATAATTTATGCACTCTTGACTACCAGATAGGTTGGACATCTTTTCCTAAGCTTAATGGCCATATGTCCTTGTGCCCCCTTGTTTTTTTTTTGGTTTTTGTTTTTGTTTTTGTTTTTGAGACGGAGTCTCGCTCTGTAGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTACTGAGTAGCTGGGACTACAGGTGCCTGCCTCCACGCCCGGCTAATTTTTTGTATTTTGTAGTAGAGACGGGGTTTCACCGTGTTAGCCAAGATGTTCTCGATCTCCTGACCCCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACTGCGACCGGCCACCCTCCCGTTTTTTTAATTGGGGTTCATTGATTTGTATATGTATAAATGTATATACTCCTTATACTCTGGATCCTAATCCTCGGTAGTTTTGTTGGTCTTAATATCTTCATATCTTCTCGAAGTCTGTGGCTTGTCTTTTCACTTTCACTTTTGTATGTTTCTTTTCTTTTCTTTTTTTTGAGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGTCTGTCCATACACTAGGTTTTTAATCCATCCAAAGTTTAAGTACATGAGGATGCAAAATAGGGGTAGAATTTTTATTTTCCCCATAGGAATTATTGATGTTTACTGGCCGTTTGAACGTCCTCTGTGAATTGTACGTGGTATCCTTTATCTGGCTTCCTTCCTTTTGCGTATTAGTTTGTAAGGACTCTATATGTTTTGCCTTTTATAGGTTGGACAGATATTCCGGCAGTTTTTCCAGCTTGATTCTTACAGGGACCAGCTCTTTGCTAAGGCCATCGTTCATTCAGTCATTACTTAATAGGCGCAGCCATTTTAAAAATGGGTGCCAGGGCCCTGCATGGACCAGCTTGGTACTGAATAAATTTGAGTAAACCCCGGGTGACTGGGAGGGTCCTGGTCCTGCCCGGTGGAGGCTGCAGCTTCCTCTGAAGGATGGCATTGGGAAGACTTCCATTTTCCTTGGCGTCTTGTGACACTTGACCCTTGTGGCATCTCCCCACACCCCAGGCTGACCCCGGGTTTGTACCACCTGGGCCGCACTGTCCTCTGCATCGACTTCATGGTTTTCACGGTGCGGCTGCTTCACATCTTCACGGTCAACAAACAGCTGGGGCCCAAGATCGTCATCGTGAGCAAGATGGTGAGGCGGGGCGGGGCCAAAGTGGGCGGGGACATAGGGAAAGGGGTGGGGCCAGGGAGGGAGTGGTCCGTGGAGAAGGGGCGTGACTTTGGGGAGCAATGGGGCGTGTTTTTGGGATATAGGGGTGGGGCCAGAGTAGGAAAGGGCGGGGCCAGACTCAGCCACATCTCCCCACAGATGAAGGACGTGTTCTTCTTCCTCTTCTTCCTCGGCGTGTGGCTGGTAGCCTATGGCGTGGCCACGGAGGGGCTCCTGAGGCCACGGGACAGTGACTTCCCAAGTATCCTGCGCCGCGTCTTCTACCGTCCCTACCTGCAGATCTTCGGGCAGATTCCCCAGGAGGACATGGACGGTAGGGGGGATGACGGCCTGACAGCCTTCCTCTGAGTCTCTGTCCCCGCTCCCTGGGTCTCTGTCCTCCTGGCTCTAAGAAAATATCTGTCTCTCTGAGTCTCTGTCTCCCTCTTTCTCTGGATCTCTGAGTGATACCCTATATTCCCCATCATCATCTCTCTGGGTCTCTGCCTACCCCACCCCCTCTGTCTTTCTGTCTGTCTTTCTTTTTTCTTTTTTTTTTTCTTTTTTTTTGAGATGGATGTTAGAAATGTTTATTTTGTGGTGTCGTAAAGAAATAGTACTTGAACATAAATTTAATTTTTTTAGTAAAGCCATTTTTATTTTTTGTAGAAAGGGTACACTCGCCAGCAGTTTTGTCATGAGAGTACACGGAACAAAGGAGATAGGGTCATTTATAACCTGACGCGTCTATTTTACTGCTGTGTCTGGTTTTTATTGGCTGGAACCGGACTTTACATTTTGTATTTGTCTTGATTGGCTAGTAACTTAGAAGTTTTTAAAAGAAGCGAAGGCAGAGGAGAACAAAGGAAGGAGGAAGTAACTTGTGGAATGTTGAGAAAGGTAAAAACACTTTTAAATAAGGAAGAGGAACAGGCTATGATCTAATGCTTGCTTGAACCAGTATAAGTATGTCAGGGCAAATATTTAGGCTAAATTGTGAGAGCTAAGAACATAAAGTACATTGATTTATTTTTTATGGCTAGTAGATATTTAAGAATGTTAGCACAGGTGTTTGAATAAATTTTGTTTCTAAGAGAAGTTACTATTTATTGTTAATTAGATGGGGAGGAAAGTCTTTGAAGAGGAACCTGTACTTTACTTTTTACATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCCACCTCCCAGATCGAAGCGATTCTCCTATCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCGTGCCACCACGCCTGGCTAACAGTTTTGTGTTTTTAGTAGAGATGGGGTTTCATCACATTGGTCAGGCTAGTCTCAAACTCCCCACCTCAGGTGATCCGGCCATCTCAGCCTCCCAAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCAGTCTTCCTGTCTTTCTTAGGTCTCTGTCCCCCTCACCCCATCTCTGAATGTCTCTCTTCACAGTGGCCCTCATGGAGCACAGCAACTGCTCGTCGGAGCCCGGCTTCTGGGCACACCCTCCTGGGGCCCAGGCGGGCACCTGCGTCTCCCAGTATGCCAACTGGCTGGTGGTGCTGCTCCTCGTCATCTTCCTGCTCGTGGCCAACATCCTGCTGGTCAACTTGCTCATTGCCATGTTCAGGTGAGGCCTGACTGCTCTCTGATCTGACCCCACCCAGCATGACCCGTGGCCCTCTCATGACTCTTGAACCCCGTCTAATGAATTCTGTTTTTAGTCCCTGAACTCTGATCCAATCTAATGCTGCCTTCTCCCCAAACCCAACCAGACCCTGCTTGTAATTTGGACTTTGGACTGATCCTCTCCCTGAGCCCAGGTTGAACTTCCTTATTTGTATTTTTTTGAGACAGGGTCTCACTCTGTCGCCAAGGCTAGAGTGTGGTGATGTGATCGTAGCTTACTGCAGCCTCGACCTCCTGGACTCAAGCAATCCTCCTGCCTTCGCCCCATAAGTAGCTGGGACTACTTN | benign | 307,757 |
Is the variant located on chromosome 19 at position 49595234, gene PRR12 (proline rich 12), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Abnormality_of_vision', 'Autism', 'Delayed_speech_and_language_development', 'Iris_coloboma', 'Motor_delay', 'Neuroocular_syndrome'] | TTAGGGCCTACGGTTCCTTAGCTTAACACCCCCCACCCCGGTCAGCTGGAAGGGTCCCCCCAACTCCCCGGGGGGTTTTCTGAGCTTCCTTCTCAGAAGGCAGCTTGGAAGAACCCCCTGACGTCTCCCCTTTCCCCCCAGCTTGGTTTATGGCAGCTCCAGGACCTCGCACCCCGAGACGGACATCTTACACCGCCAGGCCTATGCGGCCCCCCACCCACTGCAAAGCTATGCCACCAACCACCACCCGGCAGGTACGGCCCCCATCCCGCCCCGCTTTGGGCTGGCCCTCCCCCTCCCCCCGAGGCAGCTGATTGGCTGTTGAAAGTTCCGCCCCTCCTAATTGGCCGTGGCCCGTGCCGTGGCCCGCCCCTTGCTGTGTCTCCTCTGATTGGTTGCCTTTGAGGCTGCTGGTCGCTGCTTCATTTCTCGCCGGATTCGTCCGCCCCTGCCTCGCCCCTCCCCTTTCGCTCCAATTGGCCCTGTTACCATCAGCCCCCAAATCCCACCTTCTCTTCCAGGCTTTTCCGCCTCTCCCCAACCCACCCCAATTCTTTCCCTCTGGGTTTGCCCTATTCTTTTGGCTCTTTGGAACTCTGAATTCTTTCTTCCTGATTCCCTTTCTTCCTGATTGGCTCTAATTCTCTGGCCCGCCCTGTTTTATCTTATTTTGCCCCATTGCCTTATTCTACCCACCTTGCCTTTGCCTCCAAGGTTTCTGATTGGTTCCCTCTTCCTAGGGGTACTGGTAATGACATGATGCTGTCCAGTTTGACCCTTGACCCTCCTGATTGGCTCCTTCCCTTTTTCCCTCCCCATCTTTTTTTCTGAACCCTCCCACTTAGCTCAATCCTTTCTGACACGTTCTCTGGTCTTTCTTAGACTTCATTGTCCCATCCTTTCCTCTTCCTTGCTGGAAATATCCAAATTTGGTCTCCCTCCCAGCCTTACTGAGGACTCTGTTCTTTTGCTCCTGGCTCTTTCGCTTCTAGATTTTTCTACACTTTTGTCTACCATTTCCTACCTGGGCCCCCTGTCCTTATGACTGGATTGCCCCTTGTCTTGCTTTACTGTCTCACCTTTCCCCCTTCCCTCCCCTCATTCATGTCTCATTAGCTTGGTTCTATCCATCTTGTTTTTGAATTTGCCCTTTTCTCTCCCATCCCCTCCTTTTCCTGATCCAACTTGCTTTTGGCCTCTTCCCTTTCTCTCTTGACTGTATCCTACCCACCCCCACCTGGCTGACTATAACCCCTGTCCCCGGCCAGGCCTCTCTGGACTCTTCGACACTGGCCTCCACCACGCGGGCTCAGCAGGGCCCGACGCCTCCGTCATGAACCTTATCTCGGCCCTGGAATCCCGGGGCCCCCAGCCTGGCCCCTCCGCCTCCTCTCTCCTCTCCCAGTTCCGCAGTCCTTCCTGGCAAACAGGTAAGCCCAGCGCCGGCCCTGCAGGGCCAGGGTGGGACTGGCTCGCTGTTCTCTCTGACGCGCGGTCTTCCTCATCTCCAGCCATGCACACGCCAGGCCCCACGGAGCTCTTCATCTCGGGTGCCCTGCCGGGTTCCAGCACCTTTCCGTCCTCATCTGCCCTGTCGGCTTACCAACACCCGGCTTCCTTCGGCAGCCGCCCCTTCCCAGTGCCCTCGTCCCTCAGCCTCCAGGACCCCCCATTCAGCCCTCCAGCTAACGGGCTCCTGTCCCCTCATGACGTGCTGCACCTGAAGCCCTCGCAGGCACCCACGGTGCCCTCTTCACTGGGCTTCGAGCGCCTGGCAGGGGGCGGTGTCTTGGGGCCAGCTGGTCTCGGTCCAGCCCAGACCCCCCCTTACCGCCCTGGCCCCCCAGACCCACCACCACCTCCTCGCCACCTCCCAACTCAGTTCAACCTGCTGGCTTCCTCTTCCGCTGCCGCCGCCGCTGCCGAGCAGTCCTCCCCACAGCTCTATAACTTCTCGGGTGCTGCCCCGGGCCCACCGCCGCCTGAGCGGGCCCTGCCACGCCAGGACACGGTCATCAAGCACTACCAGCGGCCAGCCAGTGCCCAGCCCCCACCACCCCCGCCACCAGCCCATGCGCTCCAGCACTATCTGAGCTGTGGAGGCAGCTACCCCTCCATGGGCCACCGGGCCAACCTGGCCTGCAGCCCCCTGGGTGGTGGGGAGCCCTCCCCGGGTGCTGGGGAGCCTAGCAAGGCTGGTCCCAGCGGAGCCACGGCTGGGGCATCTGGCCGGGCCACGGGCCCTGAGGCAGCAGGGGGCGGTGGGGCTGGGGGTGGTGGTGGAGGTTACCGCCCCATCATTCAGTCGCCTGGGTACAAGACGGGCAAAGGTGGTTATGGAGCAGCTGCCGGGGGTGCCACCAGGCCCCCCCCACCCCGTTCGACCGCCACCCCCAAATGTCAGAGCCTGGGTGGGCCAGCAGCCGCCTATGCCACTGGGAAGGCCTCTGGGGCTGGAGGGGCAGGGGGCCAGGCTTATTCCCCCGGTCAGCCTCAAGGGCTTCTGGGACCCCAGGCCTACGGGCAAGGGTTTGGAGGGGGGCAGGCACAGGACTTGAGCAAAGCCCCCAGCTACTCAGGGGGCCCCCCACAGCCCCCCAGCGGCCCCCCTCCTCCTGGCCTGGCCACATGTCAGAGCTACTCCCCGGACCAGCTGCAGGGGCAGCTGTATGGGGTGCAGGGCGAGCCATACCCAGGGCCAGCCGCCCACTCCCAGGGGCTGCCCACAGCCAGCCCCTCGCTCAGCTACAGTACCGGCCATTCCCCAGCGCTCTCGGGCCATGGGGGTGGCTGGGGACCCAGCTCCCTGGGAGGCGGCGGTGAGGCCAGCCCATCTCACATCATTCGTCCGCTCCAGTCACCGCCTGCCACCGGCCGTCCACCTGGAGTCGGCTCTCCAGGAGCCCCTGGCAAATACCTGAGCTCAGTCTTGGCCTCAGCGCCTTTCCTGGCACCTCCGGGAGCTGGCAGCTATGCAGCCGGAGCAGGTGGCTACAAGGGCAAGGGGGATGGCTCGGAGCTGCTGGCGGGCCCAGGTGGGCCTCCTGCGGAGCGCACAGAGGATGAGGAGTTCCTTATCCAGCACCTCTTGCAGGCGCCCAGCCCTCCTCGGACCTCAGGGGCGGACGGCTTGGTGGGCGAGGACGGGGCAGCAGATGCCTCTAAGGGACTTGGGGGGAGTGGCGGGGCCGGGGGACCACCGGGTACACCCTACGAGTTGGCCAAGGAAGACCCCCAGAGGTACCACCTGCAGAGTGTCATCCGCACCAGTGCCAGCCTGGATGAGGGTGCCACTGCGGCACTGGAGCTGGGCCTGGGGAGGCTGAAGGAGAAGAAGAAAGGGCCAGAGCGGGGTGGCGAGACCCCCGAGGGGCTGGCCACCTCTGTTGTCCACTACGGGGCAGGCGCCAAGGAGCTGGGGGCCTTCTTGCAAAAGAGCCCTCCGCCCCCACCTCCCACGGCCCAGTCTACCCAGCCCACTCCCCATGGCCTCCTTCTGGAGGCCGGGGGCCCTGACCTCCCACTGGTGCTGCCTCCGCCTCCCCCCCAGCTGCTCCCCTCGGTCCTCAGCCATGCCCCCAGTCCCTCTCCCAGCGCCTCCAAAGTCGGCGTCCACCTCCTTGAGCCAGCCACCCGCGATGGGGCACCCCAGCCACCTCCACCGCCACCCCCGCCTCCACCACCCATGCCCCTGCAGCTCGAGGCCCACCTCCGCAGCCATGGCCTGGAGCCCGCGGCCCCCAGCCCCCGCCTGCGACCCGAGGAGAGCCTGGATCCGCCAGGCGCCATGCAGGAATTGCTCGGGGCTCTGGAGCCGCTGCCCCCGGCGCCTGGGGATACTGGCGTAGGCCCACCAAACTCGGAGGGCAAGGATCCCGCAGGCGCCTACCGCAGCCCCAGCCCGCAAGGCACCAAGGCGCCGCGTTTCGTGCCGCTCACCTCCATCTGCTTCCCTGACTCCTTGCTCCAAGACGAGGAGCGCAGCTTCTTCCCCACCATGGAGGAGATGTTCGGTGGAGGGGCCGCGGACGACTACGGCAAGGCCGGGCCACCTGAGGACGAGGGGGACCCCAAGGCTGGCGCTGGGCCACCCCCC | TTAGGGCCTACGGTTCCTTAGCTTAACACCCCCCACCCCGGTCAGCTGGAAGGGTCCCCCCAACTCCCCGGGGGGTTTTCTGAGCTTCCTTCTCAGAAGGCAGCTTGGAAGAACCCCCTGACGTCTCCCCTTTCCCCCCAGCTTGGTTTATGGCAGCTCCAGGACCTCGCACCCCGAGACGGACATCTTACACCGCCAGGCCTATGCGGCCCCCCACCCACTGCAAAGCTATGCCACCAACCACCACCCGGCAGGTACGGCCCCCATCCCGCCCCGCTTTGGGCTGGCCCTCCCCCTCCCCCCGAGGCAGCTGATTGGCTGTTGAAAGTTCCGCCCCTCCTAATTGGCCGTGGCCCGTGCCGTGGCCCGCCCCTTGCTGTGTCTCCTCTGATTGGTTGCCTTTGAGGCTGCTGGTCGCTGCTTCATTTCTCGCCGGATTCGTCCGCCCCTGCCTCGCCCCTCCCCTTTCGCTCCAATTGGCCCTGTTACCATCAGCCCCCAAATCCCACCTTCTCTTCCAGGCTTTTCCGCCTCTCCCCAACCCACCCCAATTCTTTCCCTCTGGGTTTGCCCTATTCTTTTGGCTCTTTGGAACTCTGAATTCTTTCTTCCTGATTCCCTTTCTTCCTGATTGGCTCTAATTCTCTGGCCCGCCCTGTTTTATCTTATTTTGCCCCATTGCCTTATTCTACCCACCTTGCCTTTGCCTCCAAGGTTTCTGATTGGTTCCCTCTTCCTAGGGGTACTGGTAATGACATGATGCTGTCCAGTTTGACCCTTGACCCTCCTGATTGGCTCCTTCCCTTTTTCCCTCCCCATCTTTTTTTCTGAACCCTCCCACTTAGCTCAATCCTTTCTGACACGTTCTCTGGTCTTTCTTAGACTTCATTGTCCCATCCTTTCCTCTTCCTTGCTGGAAATATCCAAATTTGGTCTCCCTCCCAGCCTTACTGAGGACTCTGTTCTTTTGCTCCTGGCTCTTTCGCTTCTAGATTTTTCTACACTTTTGTCTACCATTTCCTACCTGGGCCCCCTGTCCTTATGACTGGATTGCCCCTTGTCTTGCTTTACTGTCTCACCTTTCCCCCTTCCCTCCCCTCATTCATGTCTCATTAGCTTGGTTCTATCCATCTTGTTTTTGAATTTGCCCTTTTCTCTCCCATCCCCTCCTTTTCCTGATCCAACTTGCTTTTGGCCTCTTCCCTTTCTCTCTTGACTGTATCCTACCCACCCCCACCTGGCTGACTATAACCCCTGTCCCCGGCCAGGCCTCTCTGGACTCTTCGACACTGGCCTCCACCACGCGGGCTCAGCAGGGCCCGACGCCTCCGTCATGAACCTTATCTCGGCCCTGGAATCCCGGGGCCCCCAGCCTGGCCCCTCCGCCTCCTCTCTCCTCTCCCAGTTCCGCAGTCCTTCCTGGCAAACAGGTAAGCCCAGCGCCGGCCCTGCAGGGCCAGGGTGGGACTGGCTCGCTGTTCTCTCTGACGCGCGGTCTTCCTCATCTCCAGCCATGCACACGCCAGGCCCCACGGAGCTCTTCATCTCGGGTGCCCTGCCGGGTTCCAGCACCTTTCCGTCCTCATCTGCCCTGTCGGCTTACCAACACCCGGCTTCCTTCGGCAGCCGCCCCTTCCCAGTGCCCTCGTCCCTCAGCCTCCAGGACCCCCCATTCAGCCCTCCAGCTAACGGGCTCCTGTCCCCTCATGACGTGCTGCACCTGAAGCCCTCGCAGGCACCCACGGTGCCCTCTTCACTGGGCTTCGAGCGCCTGGCAGGGGGCGGTGTCTTGGGGCCAGCTGGTCTCGGTCCAGCCCAGACCCCCCCTTACCGCCCTGGCCCCCCAGACCCACCACCACCTCCTCGCCACCTCCCAACTCAGTTCAACCTGCTGGCTTCCTCTTCCGCTGCCGCCGCCGCTGCCGAGCAGTCCTCCCCACAGCTCTATAACTTCTCGGGTGCTGCCCCGGGCCCACCGCCGCCTGAGCGGGCCCTGCCACGCCAGGACACGGTCATCAAGCACTACCAGCGGCCAGCCAGTGCCCAGCCCCCACCACCCACCACCCCCGCCACCAGCCCATGCGCTCCAGCACTATCTGAGCTGTGGAGGCAGCTACCCCTCCATGGGCCACCGGGCCAACCTGGCCTGCAGCCCCCTGGGTGGTGGGGAGCCCTCCCCGGGTGCTGGGGAGCCTAGCAAGGCTGGTCCCAGCGGAGCCACGGCTGGGGCATCTGGCCGGGCCACGGGCCCTGAGGCAGCAGGGGGCGGTGGGGCTGGGGGTGGTGGTGGAGGTTACCGCCCCATCATTCAGTCGCCTGGGTACAAGACGGGCAAAGGTGGTTATGGAGCAGCTGCCGGGGGTGCCACCAGGCCCCCCCCACCCCGTTCGACCGCCACCCCCAAATGTCAGAGCCTGGGTGGGCCAGCAGCCGCCTATGCCACTGGGAAGGCCTCTGGGGCTGGAGGGGCAGGGGGCCAGGCTTATTCCCCCGGTCAGCCTCAAGGGCTTCTGGGACCCCAGGCCTACGGGCAAGGGTTTGGAGGGGGGCAGGCACAGGACTTGAGCAAAGCCCCCAGCTACTCAGGGGGCCCCCCACAGCCCCCCAGCGGCCCCCCTCCTCCTGGCCTGGCCACATGTCAGAGCTACTCCCCGGACCAGCTGCAGGGGCAGCTGTATGGGGTGCAGGGCGAGCCATACCCAGGGCCAGCCGCCCACTCCCAGGGGCTGCCCACAGCCAGCCCCTCGCTCAGCTACAGTACCGGCCATTCCCCAGCGCTCTCGGGCCATGGGGGTGGCTGGGGACCCAGCTCCCTGGGAGGCGGCGGTGAGGCCAGCCCATCTCACATCATTCGTCCGCTCCAGTCACCGCCTGCCACCGGCCGTCCACCTGGAGTCGGCTCTCCAGGAGCCCCTGGCAAATACCTGAGCTCAGTCTTGGCCTCAGCGCCTTTCCTGGCACCTCCGGGAGCTGGCAGCTATGCAGCCGGAGCAGGTGGCTACAAGGGCAAGGGGGATGGCTCGGAGCTGCTGGCGGGCCCAGGTGGGCCTCCTGCGGAGCGCACAGAGGATGAGGAGTTCCTTATCCAGCACCTCTTGCAGGCGCCCAGCCCTCCTCGGACCTCAGGGGCGGACGGCTTGGTGGGCGAGGACGGGGCAGCAGATGCCTCTAAGGGACTTGGGGGGAGTGGCGGGGCCGGGGGACCACCGGGTACACCCTACGAGTTGGCCAAGGAAGACCCCCAGAGGTACCACCTGCAGAGTGTCATCCGCACCAGTGCCAGCCTGGATGAGGGTGCCACTGCGGCACTGGAGCTGGGCCTGGGGAGGCTGAAGGAGAAGAAGAAAGGGCCAGAGCGGGGTGGCGAGACCCCCGAGGGGCTGGCCACCTCTGTTGTCCACTACGGGGCAGGCGCCAAGGAGCTGGGGGCCTTCTTGCAAAAGAGCCCTCCGCCCCCACCTCCCACGGCCCAGTCTACCCAGCCCACTCCCCATGGCCTCCTTCTGGAGGCCGGGGGCCCTGACCTCCCACTGGTGCTGCCTCCGCCTCCCCCCCAGCTGCTCCCCTCGGTCCTCAGCCATGCCCCCAGTCCCTCTCCCAGCGCCTCCAAAGTCGGCGTCCACCTCCTTGAGCCAGCCACCCGCGATGGGGCACCCCAGCCACCTCCACCGCCACCCCCGCCTCCACCACCCATGCCCCTGCAGCTCGAGGCCCACCTCCGCAGCCATGGCCTGGAGCCCGCGGCCCCCAGCCCCCGCCTGCGACCCGAGGAGAGCCTGGATCCGCCAGGCGCCATGCAGGAATTGCTCGGGGCTCTGGAGCCGCTGCCCCCGGCGCCTGGGGATACTGGCGTAGGCCCACCAAACTCGGAGGGCAAGGATCCCGCAGGCGCCTACCGCAGCCCCAGCCCGCAAGGCACCAAGGCGCCGCGTTTCGTGCCGCTCACCTCCATCTGCTTCCCTGACTCCTTGCTCCAAGACGAGGAGCGCAGCTTCTTCCCCACCATGGAGGAGATGTTCGGTGGAGGGGCCGCGGACGACTACGGCAAGGCCGGGCCACCTGAGGACGAGGGGGACCCCAAGGCTGGCGCTGGGCC | pathogenic | 307,839 |
The mutation impacting PRR12 (proline rich 12) on chromosome 19 at position 49597603: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Neuroocular_syndrome', 'Neuroocular_syndrome_1'] | CCCCACCCCGTTCGACCGCCACCCCCAAATGTCAGAGCCTGGGTGGGCCAGCAGCCGCCTATGCCACTGGGAAGGCCTCTGGGGCTGGAGGGGCAGGGGGCCAGGCTTATTCCCCCGGTCAGCCTCAAGGGCTTCTGGGACCCCAGGCCTACGGGCAAGGGTTTGGAGGGGGGCAGGCACAGGACTTGAGCAAAGCCCCCAGCTACTCAGGGGGCCCCCCACAGCCCCCCAGCGGCCCCCCTCCTCCTGGCCTGGCCACATGTCAGAGCTACTCCCCGGACCAGCTGCAGGGGCAGCTGTATGGGGTGCAGGGCGAGCCATACCCAGGGCCAGCCGCCCACTCCCAGGGGCTGCCCACAGCCAGCCCCTCGCTCAGCTACAGTACCGGCCATTCCCCAGCGCTCTCGGGCCATGGGGGTGGCTGGGGACCCAGCTCCCTGGGAGGCGGCGGTGAGGCCAGCCCATCTCACATCATTCGTCCGCTCCAGTCACCGCCTGCCACCGGCCGTCCACCTGGAGTCGGCTCTCCAGGAGCCCCTGGCAAATACCTGAGCTCAGTCTTGGCCTCAGCGCCTTTCCTGGCACCTCCGGGAGCTGGCAGCTATGCAGCCGGAGCAGGTGGCTACAAGGGCAAGGGGGATGGCTCGGAGCTGCTGGCGGGCCCAGGTGGGCCTCCTGCGGAGCGCACAGAGGATGAGGAGTTCCTTATCCAGCACCTCTTGCAGGCGCCCAGCCCTCCTCGGACCTCAGGGGCGGACGGCTTGGTGGGCGAGGACGGGGCAGCAGATGCCTCTAAGGGACTTGGGGGGAGTGGCGGGGCCGGGGGACCACCGGGTACACCCTACGAGTTGGCCAAGGAAGACCCCCAGAGGTACCACCTGCAGAGTGTCATCCGCACCAGTGCCAGCCTGGATGAGGGTGCCACTGCGGCACTGGAGCTGGGCCTGGGGAGGCTGAAGGAGAAGAAGAAAGGGCCAGAGCGGGGTGGCGAGACCCCCGAGGGGCTGGCCACCTCTGTTGTCCACTACGGGGCAGGCGCCAAGGAGCTGGGGGCCTTCTTGCAAAAGAGCCCTCCGCCCCCACCTCCCACGGCCCAGTCTACCCAGCCCACTCCCCATGGCCTCCTTCTGGAGGCCGGGGGCCCTGACCTCCCACTGGTGCTGCCTCCGCCTCCCCCCCAGCTGCTCCCCTCGGTCCTCAGCCATGCCCCCAGTCCCTCTCCCAGCGCCTCCAAAGTCGGCGTCCACCTCCTTGAGCCAGCCACCCGCGATGGGGCACCCCAGCCACCTCCACCGCCACCCCCGCCTCCACCACCCATGCCCCTGCAGCTCGAGGCCCACCTCCGCAGCCATGGCCTGGAGCCCGCGGCCCCCAGCCCCCGCCTGCGACCCGAGGAGAGCCTGGATCCGCCAGGCGCCATGCAGGAATTGCTCGGGGCTCTGGAGCCGCTGCCCCCGGCGCCTGGGGATACTGGCGTAGGCCCACCAAACTCGGAGGGCAAGGATCCCGCAGGCGCCTACCGCAGCCCCAGCCCGCAAGGCACCAAGGCGCCGCGTTTCGTGCCGCTCACCTCCATCTGCTTCCCTGACTCCTTGCTCCAAGACGAGGAGCGCAGCTTCTTCCCCACCATGGAGGAGATGTTCGGTGGAGGGGCCGCGGACGACTACGGCAAGGCCGGGCCACCTGAGGACGAGGGGGACCCCAAGGCTGGCGCTGGGCCACCCCCCGGCCCCCCTGCTTATGATCCCTATGGGCCCTACTGTCCTGGCCGGGCGTCGGGAGCCGGGCCCGAGACACCGGGCCTGGGCCTGGACCCCAACAAACCGCCTGAACTGCCCTCCACGGTCAACGCCGAGCCGCTGGGCCTGATCCAGAGTGGCCCCCACCAGGCGGCGCCACCACCCCCGCCTCCGCCACCGCCGCCTCCCGCGCCGGCCTCCGAACCCAAGGGTGGCCTCACCTCGCCCATCTTCTGCTCTACCAAGCCAAAGAAGCTGCTCAAGACATCCTCCTTCCACCTGCTGCGGCGCCGCGACCCACCCTTCCAGACCCCCAAGAAGCTGTACGCCCAGGAGTACGAGTTCGAGGCGGACGAGGACAAGGCCGATGTTCCCGCCGACATCCGCCTCAACCCCCGGCGCTTGCCTGACCTGGTCTCCAGCTGCCGCTCCCGTCCGGCCCTCTCGCCACTGGGGGACATCGACTTCTGCCCACCCAACCCAGGACCCGATGGCCCCCGGCGCCGTGGCCGCAAGCCCACGAAGGCGAAACGTGATGGGCCACCCCGGCCACGGGGGAGGCCCCGGATCCGCCCCCTGGAGGTCCCGACCACTGCGGGGCCCGCCTCGGCCTCCACGCCCACCGATGGCGCCAAGAAACCCCGGGGCCGGGGCCGAGGCCGGGGTCGAAAGGCTGAGGAGGCAGGGGGCACCCGGTTGGAGCCCCTGAAGCCACTTAAGGTGAGGGGAAATGGGGTCTTGTAGGGGATAGGGGAGGAGGAGCTGTGTCCGATGTTTGAGTCTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCACGATCTCGGTTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGTTGCCCGCCACCACGCCCGGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTATTAGTCAGGATGGTCTCGATCTCCTGGCCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACCTGAGCCACCGCGCCCGGCCTCCCGATGTTTTGAGTCTTAAAGGACAGGTTTATGGCCGCACCTTGGCATTTTTGGGGCAGGGGGATAATAAGGTTTACATTTCTAAAATCTGTGAGGAAGTTAGCGTGAGGAATTTCAGGGTCTCACTGACAGAAAGACCTAAGAATTGAAATTCTGAATCTAGGCTGGGCAGTGTGGTTCATGCCTGTAATCCCAGCGCTTTGGGAGACTGAGGCGGGAGGATCTCTTGAACCCAGATGTTCGAGACCAGCCTGGTCAGCGTAGTGAGACCCTGGTCTCTATTAAAAACACAAAAATTTAGCCAGGTGTGGCTGCGTGTACCTACAGTCCCAGCTACTCAAGAGGTTGAGGTGGGAGGATCTCTTGAGCCCAGGAGTTCAAGGCTGCAGGGAGCTATGATTGCATCACTGTGGCCTGGGCCACAGAGTGAGACCCTGTCTCAAGAGATAAAGGAAATTCTGGGTTTAGGGAGAGAGGCAGGAGGTTGGAGCTTACGCTGGTTTGAAACTCCTGACCTCAAGTGATTTGCCTGCCTCAGTCTCCCAAGGTGCTGGGATTACAGGCACGAGCCACCTCACCCGGTCTGCTTGCTTTTAGTTTCTATATCCCAAAGGATGGGCATTCAGGGATCCTACATTCCTGGGTCTCATGGGAAGCGGGTCTAGGGACCTGAACTGGGCTGTAAGTGAAGAGGCTCAGTGAGTCCAAGTTCCTGGTCTTCTGAGGGAGGAACTCCAGTCTTGTCCTCCTAGAATCTAAGACAAGGGGTCTGCAGGTTTGAATTCTATAAATTCACAGGCTGAGCACCTGTAAATTTGGATTTTTGGGGGCTGAGGGAGGATGGGACTGGGGGCCCAGGCTACTGGGCCCTCACGGCCCGCCACTCCCATGTCTAGATCAAGCTGTCTGTGCCCAAGGCTGGCGAGGGTCTGGGAACCTCATCGGGTGATGCCATATCAGGCACTGACCACAACAGCCTGGACTCGAGCCTGACTCGGGAGAAGATCGAGGCCAAGATTAAGGAGGTGGAGGAGAAGCAGCCGGAGATGAAGTCGGGTTTCATGGCCTCCTTCTTGGACTTCCTCAAGTCAGGCAAGCGCCACCCACCACTCTACCAGGCGGGCCTGACGCCTCCGCTCAGCCCTCCCAAGAGTGTGCCACCCTCTGTGCCAGCCCGAGGCCTGCAGCCCCAGCCCCCTGCCACCCCTGCTGTGCCACATCCCCCACCTTCCGGAGCCTTTGGGCTTGGGGGCGCCCTGGAGGCTGCAGAGAGTG | CCCCACCCCGTTCGACCGCCACCCCCAAATGTCAGAGCCTGGGTGGGCCAGCAGCCGCCTATGCCACTGGGAAGGCCTCTGGGGCTGGAGGGGCAGGGGGCCAGGCTTATTCCCCCGGTCAGCCTCAAGGGCTTCTGGGACCCCAGGCCTACGGGCAAGGGTTTGGAGGGGGGCAGGCACAGGACTTGAGCAAAGCCCCCAGCTACTCAGGGGGCCCCCCACAGCCCCCCAGCGGCCCCCCTCCTCCTGGCCTGGCCACATGTCAGAGCTACTCCCCGGACCAGCTGCAGGGGCAGCTGTATGGGGTGCAGGGCGAGCCATACCCAGGGCCAGCCGCCCACTCCCAGGGGCTGCCCACAGCCAGCCCCTCGCTCAGCTACAGTACCGGCCATTCCCCAGCGCTCTCGGGCCATGGGGGTGGCTGGGGACCCAGCTCCCTGGGAGGCGGCGGTGAGGCCAGCCCATCTCACATCATTCGTCCGCTCCAGTCACCGCCTGCCACCGGCCGTCCACCTGGAGTCGGCTCTCCAGGAGCCCCTGGCAAATACCTGAGCTCAGTCTTGGCCTCAGCGCCTTTCCTGGCACCTCCGGGAGCTGGCAGCTATGCAGCCGGAGCAGGTGGCTACAAGGGCAAGGGGGATGGCTCGGAGCTGCTGGCGGGCCCAGGTGGGCCTCCTGCGGAGCGCACAGAGGATGAGGAGTTCCTTATCCAGCACCTCTTGCAGGCGCCCAGCCCTCCTCGGACCTCAGGGGCGGACGGCTTGGTGGGCGAGGACGGGGCAGCAGATGCCTCTAAGGGACTTGGGGGGAGTGGCGGGGCCGGGGGACCACCGGGTACACCCTACGAGTTGGCCAAGGAAGACCCCCAGAGGTACCACCTGCAGAGTGTCATCCGCACCAGTGCCAGCCTGGATGAGGGTGCCACTGCGGCACTGGAGCTGGGCCTGGGGAGGCTGAAGGAGAAGAAGAAAGGGCCAGAGCGGGGTGGCGAGACCCCCGAGGGGCTGGCCACCTCTGTTGTCCACTACGGGGCAGGCGCCAAGGAGCTGGGGGCCTTCTTGCAAAAGAGCCCTCCGCCCCCACCTCCCACGGCCCAGTCTACCCAGCCCACTCCCCATGGCCTCCTTCTGGAGGCCGGGGGCCCTGACCTCCCACTGGTGCTGCCTCCGCCTCCCCCCCAGCTGCTCCCCTCGGTCCTCAGCCATGCCCCCAGTCCCTCTCCCAGCGCCTCCAAAGTCGGCGTCCACCTCCTTGAGCCAGCCACCCGCGATGGGGCACCCCAGCCACCTCCACCGCCACCCCCGCCTCCACCACCCATGCCCCTGCAGCTCGAGGCCCACCTCCGCAGCCATGGCCTGGAGCCCGCGGCCCCCAGCCCCCGCCTGCGACCCGAGGAGAGCCTGGATCCGCCAGGCGCCATGCAGGAATTGCTCGGGGCTCTGGAGCCGCTGCCCCCGGCGCCTGGGGATACTGGCGTAGGCCCACCAAACTCGGAGGGCAAGGATCCCGCAGGCGCCTACCGCAGCCCCAGCCCGCAAGGCACCAAGGCGCCGCGTTTCGTGCCGCTCACCTCCATCTGCTTCCCTGACTCCTTGCTCCAAGACGAGGAGCGCAGCTTCTTCCCCACCATGGAGGAGATGTTCGGTGGAGGGGCCGCGGACGACTACGGCAAGGCCGGGCCACCTGAGGACGAGGGGGACCCCAAGGCTGGCGCTGGGCCACCCCCCGGCCCCCCTGCTTATGATCCCTATGGGCCCTACTGTCCTGGCCGGGCGTCGGGAGCCGGGCCCGAGACACCGGGCCTGGGCCTGGACCCCAACAAACCGCCTGAACTGCCCTCCACGGTCAACGCCGAGCCGCTGGGCCTGATCCAGAGTGGCCCCCACCAGGCGGCGCCACCACCCCCGCCTCCGCCACCGCCGCCTCCCGCGCCGGCCTCCGAACCCAAGGGTGGCCTCACCTCGCCCATCTTCTGCTCTACCAAGCCAAAGAAGCTGCTCAAGACATCCTCCTTCCACCTGCTGCGGCGCCGCGACCCACCCTTCCAGACCCCAAGAAGCTGTACGCCCAGGAGTACGAGTTCGAGGCGGACGAGGACAAGGCCGATGTTCCCGCCGACATCCGCCTCAACCCCCGGCGCTTGCCTGACCTGGTCTCCAGCTGCCGCTCCCGTCCGGCCCTCTCGCCACTGGGGGACATCGACTTCTGCCCACCCAACCCAGGACCCGATGGCCCCCGGCGCCGTGGCCGCAAGCCCACGAAGGCGAAACGTGATGGGCCACCCCGGCCACGGGGGAGGCCCCGGATCCGCCCCCTGGAGGTCCCGACCACTGCGGGGCCCGCCTCGGCCTCCACGCCCACCGATGGCGCCAAGAAACCCCGGGGCCGGGGCCGAGGCCGGGGTCGAAAGGCTGAGGAGGCAGGGGGCACCCGGTTGGAGCCCCTGAAGCCACTTAAGGTGAGGGGAAATGGGGTCTTGTAGGGGATAGGGGAGGAGGAGCTGTGTCCGATGTTTGAGTCTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCACGATCTCGGTTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGTTGCCCGCCACCACGCCCGGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTATTAGTCAGGATGGTCTCGATCTCCTGGCCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACCTGAGCCACCGCGCCCGGCCTCCCGATGTTTTGAGTCTTAAAGGACAGGTTTATGGCCGCACCTTGGCATTTTTGGGGCAGGGGGATAATAAGGTTTACATTTCTAAAATCTGTGAGGAAGTTAGCGTGAGGAATTTCAGGGTCTCACTGACAGAAAGACCTAAGAATTGAAATTCTGAATCTAGGCTGGGCAGTGTGGTTCATGCCTGTAATCCCAGCGCTTTGGGAGACTGAGGCGGGAGGATCTCTTGAACCCAGATGTTCGAGACCAGCCTGGTCAGCGTAGTGAGACCCTGGTCTCTATTAAAAACACAAAAATTTAGCCAGGTGTGGCTGCGTGTACCTACAGTCCCAGCTACTCAAGAGGTTGAGGTGGGAGGATCTCTTGAGCCCAGGAGTTCAAGGCTGCAGGGAGCTATGATTGCATCACTGTGGCCTGGGCCACAGAGTGAGACCCTGTCTCAAGAGATAAAGGAAATTCTGGGTTTAGGGAGAGAGGCAGGAGGTTGGAGCTTACGCTGGTTTGAAACTCCTGACCTCAAGTGATTTGCCTGCCTCAGTCTCCCAAGGTGCTGGGATTACAGGCACGAGCCACCTCACCCGGTCTGCTTGCTTTTAGTTTCTATATCCCAAAGGATGGGCATTCAGGGATCCTACATTCCTGGGTCTCATGGGAAGCGGGTCTAGGGACCTGAACTGGGCTGTAAGTGAAGAGGCTCAGTGAGTCCAAGTTCCTGGTCTTCTGAGGGAGGAACTCCAGTCTTGTCCTCCTAGAATCTAAGACAAGGGGTCTGCAGGTTTGAATTCTATAAATTCACAGGCTGAGCACCTGTAAATTTGGATTTTTGGGGGCTGAGGGAGGATGGGACTGGGGGCCCAGGCTACTGGGCCCTCACGGCCCGCCACTCCCATGTCTAGATCAAGCTGTCTGTGCCCAAGGCTGGCGAGGGTCTGGGAACCTCATCGGGTGATGCCATATCAGGCACTGACCACAACAGCCTGGACTCGAGCCTGACTCGGGAGAAGATCGAGGCCAAGATTAAGGAGGTGGAGGAGAAGCAGCCGGAGATGAAGTCGGGTTTCATGGCCTCCTTCTTGGACTTCCTCAAGTCAGGCAAGCGCCACCCACCACTCTACCAGGCGGGCCTGACGCCTCCGCTCAGCCCTCCCAAGAGTGTGCCACCCTCTGTGCCAGCCCGAGGCCTGCAGCCCCAGCCCCCTGCCACCCCTGCTGTGCCACATCCCCCACCTTCCGGAGCCTTTGGGCTTGGGGGCGCCCTGGAGGCTGCAGAGAGTGN | pathogenic | 307,859 |
A genetic alteration at chromosome 19, position 49830902, in gene MED25 (mediator complex subunit 25)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | CGTTGCTTCTGATTCCATGTGAGGCGGAATATGTGCATCTCCGCTGGTGCTGGGTCTGGGTTCCTTCTCAGGGCCTCTGTTGCTGCTGGCTCCATGTCTTCTCTCTTTCCTGGTAGTGGCCAGACGCACCGGGTCTGCCTCCTCATCTGCAACTCACCCCCATACTTGTTGCCTGCTGTTGAGAGCACCACGTACTCTGGATGCACAACTGAGAATCTTGTGCAGCAGATTGGGGAGGTGAGGACTCCAGGGTCTGAGGGACGAGGGTCTGGGGGCCCGGAGTCTTGGGTCTGAGGCAGGAGGCACTGAGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGCACTGGGGGCCTGGACTCTTGGGTCTAAGCGGGGAGGCACTGGGGGCCTGGACTCAGACACAGAATAGTCACAGACTGGTGACCAGCTTTGCTTACTCTCTTTTCGAAACAGTCTGGCTCTGTTACCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCCCACTGCAGCCTCTGCCTCCAGGGTTCAAGCAATTCTCATGTTTCAGCCTCCCGAGTAGCTGGGATTATAGACGCCCGCCACCACGCCCAGCTGATTTTTGTATCTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGACTGCTCTCAAACTCCTGGCCTCATGTGATCTGCCTGACTCGGTCTCACAAAATCCTGGGATTACAGACGTGAGCCTCCACACCTGGCCCACTTAGTCTTACTGACAAAACTAGAACCCAGAGTCTCCCGGGGCAGGTGATACCTGGTTTCAGGGTCTCCTGCCTCAAAGCCCAATGGGAATTGTGGTTGTAGGGCTGGTGCCGTCCAGCCACACAGCAGTTGTGGTAGGTTGGGGGCCGGCCCCAACACCCTTATGGAGGGGGCCCGTCATGACTGCTCGGCCCCTCTCCTACAGCGGGGGATCCACTTCTCCATTGTGTCTCCCCGGAAGCTGCCTGCGCTTCGGCTTCTGTTTGAGAAGGCAGCCCCCCCGGCCTTGCTGGAGCCGCTGCAGCCTCCGACAGATGTGAGCCAGGACCCGAGGCACATGGTGCTGGTTCGGGGACTCGTGCTGCCTGGTGAGGCCTGGGCACCGTGCGCGGGGATGGGGGCTCGACGTGTTTCCCCAGCTCCCTCTGACTTGGATTTTGGATTTCTCTCCTTTCTCTGCATCTTGAATCCCTTCTCTCTGGGGTTGGCCATCCCTCCTGCTCTCAGTTGGGGGTGGCTCAGCCCCAGGCCCCCTCCAGTCAAAGCAGCCAGTCCCCCTGCCTCCCGCCGCACCCTCAGGTGCCACTCTCTCAGCAGCCCCCCAGCAGCCTCTGCCCCCCGTCCCCCCGCAGTACCAGGTATGGATATTTCCGGGAAGGGACATGCTTCTGGGGACTTGCTGGAGCCCTGGCCCCTGGGGAGAAATCTAGTTGCATGTTGGAGCTTGTGGGATGATGGGAGTCCCATGGGACATTGGGAAGGTGGGACTCTTGGGGCCATGGAAGCTCATGTGCTGTGTGATGGGTGTTGTGAGCTAAGCTATCCCAGCTGGTGCCTCATGGGGCCATGGGTGGTGTGACCTCGTGGGATACCAGGACTGGGGGGCCATGGTCCTCACCAGTCCCTTCCCTTCTTCCCTTCTACCCACAGGTTCCCGGGAACCTGAGTGCAGCTCAGGTGGCCGCGCAGAATGCAGTGGAGGCTGCCAAGAACCAGAAGGCTGGGCTGGGCCCTCGCTGTGAGTCCTGGAGTGAGGATGAAGGGCGGGCAGGGGCCAGGCAGGCCTCTCTCCACACACTTGTTCCCCACTTCTTCCCTTGGTCTCTCCCACAGTCTCGCCCATCACCCCTCTCCAACAAGCTGCTCCCGGAGTGGGTCCCCCCTTCAGCCAGGCCCCAGCTCCCCAACTACCCCCAGGACCCCCTGGCGCCCCCAAGCCACCACCTGCTTCCCAGCCCAGTCTGGTCTCCACTGTGGCCCCTGGCTCCGGCCTGGCTCCCACGGCACAGCCCGGGGCACCGTCCATGGTAGGTGCCTGCACGCCTCCTGCCCCTGCTCCTTCCTCCTGCTGTCCACAGCTAGGACAGTTAGAGGATGAGTCATTTGCCTTCCAGGGGGATGTGGCTCTCGTGGTTCTGGGGCTTTGGGGGCTCGTGGTGTGTGTGCTGCAGATGCCTGAGATGAGGGTCTGGGGACAGAGTGGGGAGGCTCATGGCTCCAGGAGGGTCAGGGCTGTTCCGAGAAACCCAAGGAATCCCTGGGTCTGGGAGTCCAGGGCATCGCACAGCTTACGAGTCCTCGAATCCTGCAAGGTCCAAGCATTTGGGGTCCTGCGGCTGGCCAAGTGCTGTTCTGGGGATGGAGGGGCAGAAGAAGGGATCTTTCCTCCTTCCTGGTTTGCCCTCACAGGATGGCCCCCGGAGGCTCCCGGCCTTCCCCATTCTCATGGCCCTCCTTCCTCCCCTCTGGCAGGCAGGCACTGTGGCCCCAGGAGGGGTGAGCGGCCCTTCCCCAGCCCAGCTGGGAGCCCCAGCCCTCGGTGGGCAGCAGTCAGTCTCCAATAAGCTTCTGGCCTGGAGCGGGGTCCTGGAGTGGCAAGAGGTGAGGGGCCTGAGGGTCCATTGGGCACTTGGGACTCCTGGGGCCGTGGGGCTGGGCATGTAGGACTCATGGGGCCAGATGCGTGGGGTCTGCAGTGCTGGGTTTGGAGGCATTCGTTGCGCTGGACCTGTGGGATGCGGGGCGAGGCCAGGAGCCCCATGGAGTGGTGGGACTTGCGGTACAGAGGAGAGTCCCCATGCAAAGAACCCAGAAAAGCCCAGGATTTGGGGCCCAGAGAAGAGCCCAGGCGATGTATCATCTGGGGCACAGTGGATGGTGGGATTTAGGGGCCGGGCACGTAGCTGTAACATTTGAGGAACTGAAGGCTTGCTGGTCTGGAGGAGGGGCCTGGGGCTCATGGGACTTAAACTGGGGAACATCCTGAGCTTTGGGGCTACCAGGGTAGGACATGAGGGCTCAAGGGGACTGAGGCTTATGGCCCTTTTTACTGACATGCTCTTTTTTCCCCCTCAGAAACCCAAACCTGCCTCAGTGGATGCCAACACCAAGCTGACGCGGTCACTGCCCTGCCAGGTCTACGTGAATCATGGCGAGAACCTGTAGGTGACAGTCAGGGGCGGGGTGTGGTGGGGCTGGGGCTGGCCCCCTCCTCACACCTCTCCTGGCATCGCCCCCAGGAAGACGGAGCAGTGGCCCCAGAAGCTGATCATGCAGCTCATCCCCCAGCAGCTGCTGGTGAGTGGCGGTGGAGGGCCAGCCCTGCTGCCGGGCAGTCCTCACCCTGCTGTCTCTTTCCTGTTCCCTGCCCCACCCCCACTCCCTGCCTCATGTCCCCGCCTCACTTGCCCACACCAGCATGCCAGCCGACTTCTGTGTCTCCCGCAGACCACCCTGGGCCCTTTGTTCCGGAACTCAAGGATGGTCCAGTTCCATTTCACCAACAAGGACCTGGAGTCTCTCAAAGGCCTCTACCGCATCATGGGCAACGGCTTCGTGAGTCCAGGGCATGGGGGGCCGAGGGGTGTTGACTCTTGTCCTGCTTTCTGCTGACCTTTGACGGGAATCCCAGAGTGCCTGGGCCCACGGAAGCCGTTTTTGATGGTTGGGTGCACTTCATGCCCTTAGGTTCCTCGCCTTTCTTCTAGAGCCGTGACTTTTATTATAATCATCGTATGCACCAGATTTGAGGGATATTCCACATTAAAAATGTGAGCTGGATGTGACAGGATCAGTTAGGAGGAAGCTGTTGATTCTGGCATGGCTTTATGGGATGTGTTCATTTCCTGTGGCTGTGGTAACACATTACCACAAGCAGAGGGGCTTAAAACAACAGAAACGTGTTCTATCCCAGTTCTGGAGGCCAGAAGCCCAAGGTCAGGGTGTCAGCAGGGCCACGCTCTCTCTAGAGGCTGGAGGGAAGGCCTCTTCGTTGCCTCTTCCGGCCGGTAACCCCAGGCTTCAGGTGGCATCGCTCCAGGGTCTTCCTCCATCCCGCAGCTGTCTTCCCTCTGTGTGTGTCTCCACATG | CGTTGCTTCTGATTCCATGTGAGGCGGAATATGTGCATCTCCGCTGGTGCTGGGTCTGGGTTCCTTCTCAGGGCCTCTGTTGCTGCTGGCTCCATGTCTTCTCTCTTTCCTGGTAGTGGCCAGACGCACCGGGTCTGCCTCCTCATCTGCAACTCACCCCCATACTTGTTGCCTGCTGTTGAGAGCACCACGTACTCTGGATGCACAACTGAGAATCTTGTGCAGCAGATTGGGGAGGTGAGGACTCCAGGGTCTGAGGGACGAGGGTCTGGGGGCCCGGAGTCTTGGGTCTGAGGCAGGAGGCACTGAGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGCACTGGGGGCCTGGACTCTTGGGTCTAAGCGGGGAGGCACTGGGGGCCTGGACTCAGACACAGAATAGTCACAGACTGGTGACCAGCTTTGCTTACTCTCTTTTCGAAACAGTCTGGCTCTGTTACCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCCCACTGCAGCCTCTGCCTCCAGGGTTCAAGCAATTCTCATGTTTCAGCCTCCCGAGTAGCTGGGATTATAGACGCCCGCCACCACGCCCAGCTGATTTTTGTATCTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGACTGCTCTCAAACTCCTGGCCTCATGTGATCTGCCTGACTCGGTCTCACAAAATCCTGGGATTACAGACGTGAGCCTCCACACCTGGCCCACTTAGTCTTACTGACAAAACTAGAACCCAGAGTCTCCCGGGGCAGGTGATACCTGGTTTCAGGGTCTCCTGCCTCAAAGCCCAATGGGAATTGTGGTTGTAGGGCTGGTGCCGTCCAGCCACACAGCAGTTGTGGTAGGTTGGGGGCCGGCCCCAACACCCTTATGGAGGGGGCCCGTCATGACTGCTCGGCCCCTCTCCTACAGCGGGGGATCCACTTCTCCATTGTGTCTCCCCGGAAGCTGCCTGCGCTTCGGCTTCTGTTTGAGAAGGCAGCCCCCCCGGCCTTGCTGGAGCCGCTGCAGCCTCCGACAGATGTGAGCCAGGACCCGAGGCACATGGTGCTGGTTCGGGGACTCGTGCTGCCTGGTGAGGCCTGGGCACCGTGCGCGGGGATGGGGGCTCGACGTGTTTCCCCAGCTCCCTCTGACTTGGATTTTGGATTTCTCTCCTTTCTCTGCATCTTGAATCCCTTCTCTCTGGGGTTGGCCATCCCTCCTGCTCTCAGTTGGGGGTGGCTCAGCCCCAGGCCCCCTCCAGTCAAAGCAGCCAGTCCCCCTGCCTCCCGCCGCACCCTCAGGTGCCACTCTCTCAGCAGCCCCCCAGCAGCCTCTGCCCCCCGTCCCCCCGCAGTACCAGGTATGGATATTTCCGGGAAGGGACATGCTTCTGGGGACTTGCTGGAGCCCTGGCCCCTGGGGAGAAATCTAGTTGCATGTTGGAGCTTGTGGGATGATGGGAGTCCCATGGGACATTGGGAAGGTGGGACTCTTGGGGCCATGGAAGCTCATGTGCTGTGTGATGGGTGTTGTGAGCTAAGCTATCCCAGCTGGTGCCTCATGGGGCCATGGGTGGTGTGACCTCGTGGGATACCAGGACTGGGGGGCCATGGTCCTCACCAGTCCCTTCCCTTCTTCCCTTCTACCCACAGGTTCCCGGGAACCTGAGTGCAGCTCAGGTGGCCGCGCAGAATGCAGTGGAGGCTGCCAAGAACCAGAAGGCTGGGCTGGGCCCTCGCTGTGAGTCCTGGAGTGAGGATGAAGGGCGGGCAGGGGCCAGGCAGGCCTCTCTCCACACACTTGTTCCCCACTTCTTCCCTTGGTCTCTCCCACAGTCTCGCCCATCACCCCTCTCCAACAAGCTGCTCCCGGAGTGGGTCCCCCCTTCAGCCAGGCCCCAGCTCCCCAACTACCCCCAGGACCCCCTGGCGCCCCCAAGCCACCACCTGCTTCCCAGCCCAGTCTGGTCTCCACTGTGGCCCCTGGCTCCGGCCTGGCTCCCACGGCACAGCCCGGGGCACCGTCCATGGTAGGTGCCTGCACGCCTCCTGCCCCTGCTCCTTCCTCCTGCCCCTGCTCCTTCCTCCTGCTGTCCACAGCTAGGACAGTTAGAGGATGAGTCATTTGCCTTCCAGGGGGATGTGGCTCTCGTGGTTCTGGGGCTTTGGGGGCTCGTGGTGTGTGTGCTGCAGATGCCTGAGATGAGGGTCTGGGGACAGAGTGGGGAGGCTCATGGCTCCAGGAGGGTCAGGGCTGTTCCGAGAAACCCAAGGAATCCCTGGGTCTGGGAGTCCAGGGCATCGCACAGCTTACGAGTCCTCGAATCCTGCAAGGTCCAAGCATTTGGGGTCCTGCGGCTGGCCAAGTGCTGTTCTGGGGATGGAGGGGCAGAAGAAGGGATCTTTCCTCCTTCCTGGTTTGCCCTCACAGGATGGCCCCCGGAGGCTCCCGGCCTTCCCCATTCTCATGGCCCTCCTTCCTCCCCTCTGGCAGGCAGGCACTGTGGCCCCAGGAGGGGTGAGCGGCCCTTCCCCAGCCCAGCTGGGAGCCCCAGCCCTCGGTGGGCAGCAGTCAGTCTCCAATAAGCTTCTGGCCTGGAGCGGGGTCCTGGAGTGGCAAGAGGTGAGGGGCCTGAGGGTCCATTGGGCACTTGGGACTCCTGGGGCCGTGGGGCTGGGCATGTAGGACTCATGGGGCCAGATGCGTGGGGTCTGCAGTGCTGGGTTTGGAGGCATTCGTTGCGCTGGACCTGTGGGATGCGGGGCGAGGCCAGGAGCCCCATGGAGTGGTGGGACTTGCGGTACAGAGGAGAGTCCCCATGCAAAGAACCCAGAAAAGCCCAGGATTTGGGGCCCAGAGAAGAGCCCAGGCGATGTATCATCTGGGGCACAGTGGATGGTGGGATTTAGGGGCCGGGCACGTAGCTGTAACATTTGAGGAACTGAAGGCTTGCTGGTCTGGAGGAGGGGCCTGGGGCTCATGGGACTTAAACTGGGGAACATCCTGAGCTTTGGGGCTACCAGGGTAGGACATGAGGGCTCAAGGGGACTGAGGCTTATGGCCCTTTTTACTGACATGCTCTTTTTTCCCCCTCAGAAACCCAAACCTGCCTCAGTGGATGCCAACACCAAGCTGACGCGGTCACTGCCCTGCCAGGTCTACGTGAATCATGGCGAGAACCTGTAGGTGACAGTCAGGGGCGGGGTGTGGTGGGGCTGGGGCTGGCCCCCTCCTCACACCTCTCCTGGCATCGCCCCCAGGAAGACGGAGCAGTGGCCCCAGAAGCTGATCATGCAGCTCATCCCCCAGCAGCTGCTGGTGAGTGGCGGTGGAGGGCCAGCCCTGCTGCCGGGCAGTCCTCACCCTGCTGTCTCTTTCCTGTTCCCTGCCCCACCCCCACTCCCTGCCTCATGTCCCCGCCTCACTTGCCCACACCAGCATGCCAGCCGACTTCTGTGTCTCCCGCAGACCACCCTGGGCCCTTTGTTCCGGAACTCAAGGATGGTCCAGTTCCATTTCACCAACAAGGACCTGGAGTCTCTCAAAGGCCTCTACCGCATCATGGGCAACGGCTTCGTGAGTCCAGGGCATGGGGGGCCGAGGGGTGTTGACTCTTGTCCTGCTTTCTGCTGACCTTTGACGGGAATCCCAGAGTGCCTGGGCCCACGGAAGCCGTTTTTGATGGTTGGGTGCACTTCATGCCCTTAGGTTCCTCGCCTTTCTTCTAGAGCCGTGACTTTTATTATAATCATCGTATGCACCAGATTTGAGGGATATTCCACATTAAAAATGTGAGCTGGATGTGACAGGATCAGTTAGGAGGAAGCTGTTGATTCTGGCATGGCTTTATGGGATGTGTTCATTTCCTGTGGCTGTGGTAACACATTACCACAAGCAGAGGGGCTTAAAACAACAGAAACGTGTTCTATCCCAGTTCTGGAGGCCAGAAGCCCAAGGTCAGGGTGTCAGCAGGGCCACGCTCTCTCTAGAGGCTGGAGGGAAGGCCTCTTCGTTGCCTCTTCCGGCCGGTAACCCCAGGCTTCAGGTGGCATCGCTCCAGGGTCTTCCTCCATCCCGCAGCTGTCTTCCCT | benign | 308,012 |
Is the genetic mutation found on chromosome 19 at position 49832082, within the gene MED25, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TCTCTGCATCTTGAATCCCTTCTCTCTGGGGTTGGCCATCCCTCCTGCTCTCAGTTGGGGGTGGCTCAGCCCCAGGCCCCCTCCAGTCAAAGCAGCCAGTCCCCCTGCCTCCCGCCGCACCCTCAGGTGCCACTCTCTCAGCAGCCCCCCAGCAGCCTCTGCCCCCCGTCCCCCCGCAGTACCAGGTATGGATATTTCCGGGAAGGGACATGCTTCTGGGGACTTGCTGGAGCCCTGGCCCCTGGGGAGAAATCTAGTTGCATGTTGGAGCTTGTGGGATGATGGGAGTCCCATGGGACATTGGGAAGGTGGGACTCTTGGGGCCATGGAAGCTCATGTGCTGTGTGATGGGTGTTGTGAGCTAAGCTATCCCAGCTGGTGCCTCATGGGGCCATGGGTGGTGTGACCTCGTGGGATACCAGGACTGGGGGGCCATGGTCCTCACCAGTCCCTTCCCTTCTTCCCTTCTACCCACAGGTTCCCGGGAACCTGAGTGCAGCTCAGGTGGCCGCGCAGAATGCAGTGGAGGCTGCCAAGAACCAGAAGGCTGGGCTGGGCCCTCGCTGTGAGTCCTGGAGTGAGGATGAAGGGCGGGCAGGGGCCAGGCAGGCCTCTCTCCACACACTTGTTCCCCACTTCTTCCCTTGGTCTCTCCCACAGTCTCGCCCATCACCCCTCTCCAACAAGCTGCTCCCGGAGTGGGTCCCCCCTTCAGCCAGGCCCCAGCTCCCCAACTACCCCCAGGACCCCCTGGCGCCCCCAAGCCACCACCTGCTTCCCAGCCCAGTCTGGTCTCCACTGTGGCCCCTGGCTCCGGCCTGGCTCCCACGGCACAGCCCGGGGCACCGTCCATGGTAGGTGCCTGCACGCCTCCTGCCCCTGCTCCTTCCTCCTGCTGTCCACAGCTAGGACAGTTAGAGGATGAGTCATTTGCCTTCCAGGGGGATGTGGCTCTCGTGGTTCTGGGGCTTTGGGGGCTCGTGGTGTGTGTGCTGCAGATGCCTGAGATGAGGGTCTGGGGACAGAGTGGGGAGGCTCATGGCTCCAGGAGGGTCAGGGCTGTTCCGAGAAACCCAAGGAATCCCTGGGTCTGGGAGTCCAGGGCATCGCACAGCTTACGAGTCCTCGAATCCTGCAAGGTCCAAGCATTTGGGGTCCTGCGGCTGGCCAAGTGCTGTTCTGGGGATGGAGGGGCAGAAGAAGGGATCTTTCCTCCTTCCTGGTTTGCCCTCACAGGATGGCCCCCGGAGGCTCCCGGCCTTCCCCATTCTCATGGCCCTCCTTCCTCCCCTCTGGCAGGCAGGCACTGTGGCCCCAGGAGGGGTGAGCGGCCCTTCCCCAGCCCAGCTGGGAGCCCCAGCCCTCGGTGGGCAGCAGTCAGTCTCCAATAAGCTTCTGGCCTGGAGCGGGGTCCTGGAGTGGCAAGAGGTGAGGGGCCTGAGGGTCCATTGGGCACTTGGGACTCCTGGGGCCGTGGGGCTGGGCATGTAGGACTCATGGGGCCAGATGCGTGGGGTCTGCAGTGCTGGGTTTGGAGGCATTCGTTGCGCTGGACCTGTGGGATGCGGGGCGAGGCCAGGAGCCCCATGGAGTGGTGGGACTTGCGGTACAGAGGAGAGTCCCCATGCAAAGAACCCAGAAAAGCCCAGGATTTGGGGCCCAGAGAAGAGCCCAGGCGATGTATCATCTGGGGCACAGTGGATGGTGGGATTTAGGGGCCGGGCACGTAGCTGTAACATTTGAGGAACTGAAGGCTTGCTGGTCTGGAGGAGGGGCCTGGGGCTCATGGGACTTAAACTGGGGAACATCCTGAGCTTTGGGGCTACCAGGGTAGGACATGAGGGCTCAAGGGGACTGAGGCTTATGGCCCTTTTTACTGACATGCTCTTTTTTCCCCCTCAGAAACCCAAACCTGCCTCAGTGGATGCCAACACCAAGCTGACGCGGTCACTGCCCTGCCAGGTCTACGTGAATCATGGCGAGAACCTGTAGGTGACAGTCAGGGGCGGGGTGTGGTGGGGCTGGGGCTGGCCCCCTCCTCACACCTCTCCTGGCATCGCCCCCAGGAAGACGGAGCAGTGGCCCCAGAAGCTGATCATGCAGCTCATCCCCCAGCAGCTGCTGGTGAGTGGCGGTGGAGGGCCAGCCCTGCTGCCGGGCAGTCCTCACCCTGCTGTCTCTTTCCTGTTCCCTGCCCCACCCCCACTCCCTGCCTCATGTCCCCGCCTCACTTGCCCACACCAGCATGCCAGCCGACTTCTGTGTCTCCCGCAGACCACCCTGGGCCCTTTGTTCCGGAACTCAAGGATGGTCCAGTTCCATTTCACCAACAAGGACCTGGAGTCTCTCAAAGGCCTCTACCGCATCATGGGCAACGGCTTCGTGAGTCCAGGGCATGGGGGGCCGAGGGGTGTTGACTCTTGTCCTGCTTTCTGCTGACCTTTGACGGGAATCCCAGAGTGCCTGGGCCCACGGAAGCCGTTTTTGATGGTTGGGTGCACTTCATGCCCTTAGGTTCCTCGCCTTTCTTCTAGAGCCGTGACTTTTATTATAATCATCGTATGCACCAGATTTGAGGGATATTCCACATTAAAAATGTGAGCTGGATGTGACAGGATCAGTTAGGAGGAAGCTGTTGATTCTGGCATGGCTTTATGGGATGTGTTCATTTCCTGTGGCTGTGGTAACACATTACCACAAGCAGAGGGGCTTAAAACAACAGAAACGTGTTCTATCCCAGTTCTGGAGGCCAGAAGCCCAAGGTCAGGGTGTCAGCAGGGCCACGCTCTCTCTAGAGGCTGGAGGGAAGGCCTCTTCGTTGCCTCTTCCGGCCGGTAACCCCAGGCTTCAGGTGGCATCGCTCCAGGGTCTTCCTCCATCCCGCAGCTGTCTTCCCTCTGTGTGTGTCTCCACATGGCATTCTCTCTGTATCTTTGTGTCTGTGCTTATAAGGACATCAGTAATTTTGGATTAGGCCCCATTTTCCTGACCTCATCTTACTACAATTGCAAAGACCCTCTTTCCAGATAGAGTCACCTTCACAGGTGCTGGGGACTGGAACCTCAGCTTAGCTTTCTGGTTTTGTTTTTTGAGACAGAGTTTCACTGTTGTCAGCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACAGCAACTTCCGTCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACTATGCCCAGCTAATTTCTGTATTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCGAACTTCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACCGGTGTGAGCCACCGCGCCCAGCCTCAGCATAGCTTTCTGGGAGTCACAGTTCACACTTTGTAACTCGGGGAAGGAGCAGATCAGTTACTTCCGTGCACCAGGCACTCCTGCAGGAAAGAGAACCTTAGGGGGATCACCTCACGAGACCCTCACAGAACCTTGTGAAGAAGGCATTCCTGAGAGTTAGTACTTCCGGCTGCAAATCACGTAGTTTCCCAAACACATAGATAATTGGGGGCACTCGGAAAAAATGTTCTCTTATGATTCTGTGGGTCACCTGGGCTCAGTGGGCCATCTCGCTTGGCGACTCTCACGGGGTTGCCATCAGATGGCAGCTGAGACTCTGGTCATCTGAAACCTTTACTGGGCTGGATGTTCAAAACAGCTCCTCACACAGCCCTGGCTGTTGGCTGGGGCTTGGCTAGGACCGGCCATCCCAGTGTCTGCACATGGCCTGTCCACGTGGCCACACTGTGGCAGCTGGGTTCTGAGAGGGCAGGCGTTGTAGGAGCAGGCATTTATATTTTGCACAGGACAGGACATCTAGAGGGGGCCAGCTATTGGGATTGGTTTCATAGGTCTGTGACATCAGGGACAGGGCCCTGTGGTTCTCTTGGCCTCTCCTTTATAGTCACAAGGTAGCTCTCATGGCTCCACGCATCCTGTGTGCTTTCATGAAGGAGGGGAAGGGGGCTGTGTGTTTCCCTTTCTTCAAGACAGCAGAAACTTTCTCAGATTCCAGAGC | TCTCTGCATCTTGAATCCCTTCTCTCTGGGGTTGGCCATCCCTCCTGCTCTCAGTTGGGGGTGGCTCAGCCCCAGGCCCCCTCCAGTCAAAGCAGCCAGTCCCCCTGCCTCCCGCCGCACCCTCAGGTGCCACTCTCTCAGCAGCCCCCCAGCAGCCTCTGCCCCCCGTCCCCCCGCAGTACCAGGTATGGATATTTCCGGGAAGGGACATGCTTCTGGGGACTTGCTGGAGCCCTGGCCCCTGGGGAGAAATCTAGTTGCATGTTGGAGCTTGTGGGATGATGGGAGTCCCATGGGACATTGGGAAGGTGGGACTCTTGGGGCCATGGAAGCTCATGTGCTGTGTGATGGGTGTTGTGAGCTAAGCTATCCCAGCTGGTGCCTCATGGGGCCATGGGTGGTGTGACCTCGTGGGATACCAGGACTGGGGGGCCATGGTCCTCACCAGTCCCTTCCCTTCTTCCCTTCTACCCACAGGTTCCCGGGAACCTGAGTGCAGCTCAGGTGGCCGCGCAGAATGCAGTGGAGGCTGCCAAGAACCAGAAGGCTGGGCTGGGCCCTCGCTGTGAGTCCTGGAGTGAGGATGAAGGGCGGGCAGGGGCCAGGCAGGCCTCTCTCCACACACTTGTTCCCCACTTCTTCCCTTGGTCTCTCCCACAGTCTCGCCCATCACCCCTCTCCAACAAGCTGCTCCCGGAGTGGGTCCCCCCTTCAGCCAGGCCCCAGCTCCCCAACTACCCCCAGGACCCCCTGGCGCCCCCAAGCCACCACCTGCTTCCCAGCCCAGTCTGGTCTCCACTGTGGCCCCTGGCTCCGGCCTGGCTCCCACGGCACAGCCCGGGGCACCGTCCATGGTAGGTGCCTGCACGCCTCCTGCCCCTGCTCCTTCCTCCTGCTGTCCACAGCTAGGACAGTTAGAGGATGAGTCATTTGCCTTCCAGGGGGATGTGGCTCTCGTGGTTCTGGGGCTTTGGGGGCTCGTGGTGTGTGTGCTGCAGATGCCTGAGATGAGGGTCTGGGGACAGAGTGGGGAGGCTCATGGCTCCAGGAGGGTCAGGGCTGTTCCGAGAAACCCAAGGAATCCCTGGGTCTGGGAGTCCAGGGCATCGCACAGCTTACGAGTCCTCGAATCCTGCAAGGTCCAAGCATTTGGGGTCCTGCGGCTGGCCAAGTGCTGTTCTGGGGATGGAGGGGCAGAAGAAGGGATCTTTCCTCCTTCCTGGTTTGCCCTCACAGGATGGCCCCCGGAGGCTCCCGGCCTTCCCCATTCTCATGGCCCTCCTTCCTCCCCTCTGGCAGGCAGGCACTGTGGCCCCAGGAGGGGTGAGCGGCCCTTCCCCAGCCCAGCTGGGAGCCCCAGCCCTCGGTGGGCAGCAGTCAGTCTCCAATAAGCTTCTGGCCTGGAGCGGGGTCCTGGAGTGGCAAGAGGTGAGGGGCCTGAGGGTCCATTGGGCACTTGGGACTCCTGGGGCCGTGGGGCTGGGCATGTAGGACTCATGGGGCCAGATGCGTGGGGTCTGCAGTGCTGGGTTTGGAGGCATTCGTTGCGCTGGACCTGTGGGATGCGGGGCGAGGCCAGGAGCCCCATGGAGTGGTGGGACTTGCGGTACAGAGGAGAGTCCCCATGCAAAGAACCCAGAAAAGCCCAGGATTTGGGGCCCAGAGAAGAGCCCAGGCGATGTATCATCTGGGGCACAGTGGATGGTGGGATTTAGGGGCCGGGCACGTAGCTGTAACATTTGAGGAACTGAAGGCTTGCTGGTCTGGAGGAGGGGCCTGGGGCTCATGGGACTTAAACTGGGGAACATCCTGAGCTTTGGGGCTACCAGGGTAGGACATGAGGGCTCAAGGGGACTGAGGCTTATGGCCCTTTTTACTGACATGCTCTTTTTTCCCCCTCAGAAACCCAAACCTGCCTCAGTGGATGCCAACACCAAGCTGACGCGGTCACTGCCCTGCCAGGTCTACGTGAATCATGGCGAGAACCTGTAGGTGACAGTCAGGGGCGGGGTGTGGTGGGGCTGGGGCTGGCCCCCTCCTCACACCTCTCTGGCATCGCCCCCAGGAAGACGGAGCAGTGGCCCCAGAAGCTGATCATGCAGCTCATCCCCCAGCAGCTGCTGGTGAGTGGCGGTGGAGGGCCAGCCCTGCTGCCGGGCAGTCCTCACCCTGCTGTCTCTTTCCTGTTCCCTGCCCCACCCCCACTCCCTGCCTCATGTCCCCGCCTCACTTGCCCACACCAGCATGCCAGCCGACTTCTGTGTCTCCCGCAGACCACCCTGGGCCCTTTGTTCCGGAACTCAAGGATGGTCCAGTTCCATTTCACCAACAAGGACCTGGAGTCTCTCAAAGGCCTCTACCGCATCATGGGCAACGGCTTCGTGAGTCCAGGGCATGGGGGGCCGAGGGGTGTTGACTCTTGTCCTGCTTTCTGCTGACCTTTGACGGGAATCCCAGAGTGCCTGGGCCCACGGAAGCCGTTTTTGATGGTTGGGTGCACTTCATGCCCTTAGGTTCCTCGCCTTTCTTCTAGAGCCGTGACTTTTATTATAATCATCGTATGCACCAGATTTGAGGGATATTCCACATTAAAAATGTGAGCTGGATGTGACAGGATCAGTTAGGAGGAAGCTGTTGATTCTGGCATGGCTTTATGGGATGTGTTCATTTCCTGTGGCTGTGGTAACACATTACCACAAGCAGAGGGGCTTAAAACAACAGAAACGTGTTCTATCCCAGTTCTGGAGGCCAGAAGCCCAAGGTCAGGGTGTCAGCAGGGCCACGCTCTCTCTAGAGGCTGGAGGGAAGGCCTCTTCGTTGCCTCTTCCGGCCGGTAACCCCAGGCTTCAGGTGGCATCGCTCCAGGGTCTTCCTCCATCCCGCAGCTGTCTTCCCTCTGTGTGTGTCTCCACATGGCATTCTCTCTGTATCTTTGTGTCTGTGCTTATAAGGACATCAGTAATTTTGGATTAGGCCCCATTTTCCTGACCTCATCTTACTACAATTGCAAAGACCCTCTTTCCAGATAGAGTCACCTTCACAGGTGCTGGGGACTGGAACCTCAGCTTAGCTTTCTGGTTTTGTTTTTTGAGACAGAGTTTCACTGTTGTCAGCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACAGCAACTTCCGTCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACTATGCCCAGCTAATTTCTGTATTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCGAACTTCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACCGGTGTGAGCCACCGCGCCCAGCCTCAGCATAGCTTTCTGGGAGTCACAGTTCACACTTTGTAACTCGGGGAAGGAGCAGATCAGTTACTTCCGTGCACCAGGCACTCCTGCAGGAAAGAGAACCTTAGGGGGATCACCTCACGAGACCCTCACAGAACCTTGTGAAGAAGGCATTCCTGAGAGTTAGTACTTCCGGCTGCAAATCACGTAGTTTCCCAAACACATAGATAATTGGGGGCACTCGGAAAAAATGTTCTCTTATGATTCTGTGGGTCACCTGGGCTCAGTGGGCCATCTCGCTTGGCGACTCTCACGGGGTTGCCATCAGATGGCAGCTGAGACTCTGGTCATCTGAAACCTTTACTGGGCTGGATGTTCAAAACAGCTCCTCACACAGCCCTGGCTGTTGGCTGGGGCTTGGCTAGGACCGGCCATCCCAGTGTCTGCACATGGCCTGTCCACGTGGCCACACTGTGGCAGCTGGGTTCTGAGAGGGCAGGCGTTGTAGGAGCAGGCATTTATATTTTGCACAGGACAGGACATCTAGAGGGGGCCAGCTATTGGGATTGGTTTCATAGGTCTGTGACATCAGGGACAGGGCCCTGTGGTTCTCTTGGCCTCTCCTTTATAGTCACAAGGTAGCTCTCATGGCTCCACGCATCCTGTGTGCTTTCATGAAGGAGGGGAAGGGGGCTGTGTGTTTCCCTTTCTTCAAGACAGCAGAAACTTTCTCAGATTCCAGAGCN | benign | 308,018 |
Chromosome 19, position 49835707, gene MED25 (mediator complex subunit 25): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | CACCTGGGCTCAGTGGGCCATCTCGCTTGGCGACTCTCACGGGGTTGCCATCAGATGGCAGCTGAGACTCTGGTCATCTGAAACCTTTACTGGGCTGGATGTTCAAAACAGCTCCTCACACAGCCCTGGCTGTTGGCTGGGGCTTGGCTAGGACCGGCCATCCCAGTGTCTGCACATGGCCTGTCCACGTGGCCACACTGTGGCAGCTGGGTTCTGAGAGGGCAGGCGTTGTAGGAGCAGGCATTTATATTTTGCACAGGACAGGACATCTAGAGGGGGCCAGCTATTGGGATTGGTTTCATAGGTCTGTGACATCAGGGACAGGGCCCTGTGGTTCTCTTGGCCTCTCCTTTATAGTCACAAGGTAGCTCTCATGGCTCCACGCATCCTGTGTGCTTTCATGAAGGAGGGGAAGGGGGCTGTGTGTTTCCCTTTCTTCAAGACAGCAGAAACTTTCTCAGATTCCAGAGCAGGCATTCCTTTCACCTCCTATCCCGGACCTAGGCCACTGGGCAGCCCCTAGTTGATGGGAGGCTGCTGGGAGCAGGTATCCGTGACTGTCTGGGGCTGGGACATGTTACAGCCCCAGACAGCATTGGGAATGCAGGGGAGGAGGACACTTGGATATGGAATAGGCAGCTAGCAGGGTCTGTCTCAGGCAGGAAACCGAGGCTCAGAGAAGTCAATTCACTTGGCCAAGGTCAGCCTCGCCTCCCTCAGGAGCCCCTGCCCTGAATGCTCCATGTGTTACCCCCCTGATGACCAGTGATGTTTCCTGGGTGCTTCCTGTGGGCTGAGCCTCAGGCAGGGCTCTTGCTGTGGATCAGACATCGCATAGTCACAGCGACCCTGTGATGTGGGAGCACTCCCCGTGGTGTACACTGGCCGGTGCTGAGGGCTGGAGGATCTCTTGGATACCCGGGGTCCGACCCACCGTTGATCACAGGCCTGTGGGTACCACGCTGTGCATCTAGGCCGCTCTCCCGGCCGTGACCCTCAGCCGCCCTCTGAGGAGGCCGCCGTGGCATTTTATGCCCAAGAAACTGGGTCCATGAGGAGCAGGTGGTGGCTGAAGGTTGAAGAGCTGGGCTCCAGCACTTTCTCTCCGCTTTCCCTCTCAGTGGGCAGCTGGAACCCTAGCTTGCCCTGAGCGCCTCAGTTTCTGTCTCCAGAGCAACCCATAGCACACCTGTTCTCCTTAACCTTCTATAGCAGAAACCTCACCTCACCTTGCCTGTGGGGCCTCTAGAGCCTTCTGGAATGGGGAGGGGGTCAGGGCTGCCTCTTTCAGGGCCTGAATGGTTCTGAAGAGCTGTTGTCCACCCAGGCGGGCTGCGTGCACTTCCCCCACACGGCGCCCTGTGAGGTGCGCGTGCTCATGCTCCTGTACTCGTCCAAGAAGAAGATCTTCATGGGCCTCATCCCCTACGACCAGAGCGGCTTCGTCAACGGCATCCGGCAGGTCATCACCAACCACAAGCAGGTCCAGCAGCAGAAGCTGGAGCAGCAGCAGCGAGGAGTGAGTGTTGACAGTCCCCAAACCAGCACTCCGACCCCCTCCTGCCCGGGCCCCACATGGCCCCCTGGGGTCTCCAGGACCAAGATGCCCACCCTTCTCCCAATATGTGGTGCCTCCAAGCTAAGTCCCACTCAGATTTTCTTGCAGTCTCTCTCCTTTTTCAGCATCCACATCAAAGCCCTGACACAGCTTCCTCCTGGAGACCTTGGAGTGTACGGCATCCCTCCCAGACCACTCACCCCCAAAGAGAATGTCCCCATCTCCTTACTAGTTCCCCTCAGGGCACAGGCCCTCCCGCCTCAGATTCAGGATGCCACCACCCTCAGTTACTGACCTGCCCCTCTCTCCCCGTGCAGATGGGGGGACAGCAGGCACCCCCAGGGCTGGGGCCCATTCTGGAGGACCAAGCCAGGCCCTCACAGAATCTGGTGAGGACAGGGCTGGCGGGGTCGGGGCTGGGTTGGGGAGGCCCCAAGGCTGCGCTCTGTGCCTGCAGAAGGGGCGTGAGGCCCTGCCCATCTCCCTCACCCCTGTGTCTCTTCCCACCAGCTCCAGCTCCGCCCACCGCAGCCCCAGCCTCAGGGTACCGTAGGGGCCTCTGGGGCCACGGGGCAGCCCCAGCCCCAAGGTACTGCCCAGCCCCCGCCAGGTGCCCCTCAAGGCCCTCCTGGAGCAGCTTCTGGCCCACCCCCTCCTGGACCCATCCTTCGGCCCCAGAACCCTGGGGCCAACCCTCAGCTGCGAAGCCTCCTCCTCAACCCACCACCGGTGAGATGTTGGGGTGGGGTAGCGAGAGTTCCAGATCCTGGCCCTGGTGGTTCTGGTCCTGTTGTCTGGGAGGAGGGAGGTTGACTGTGGTCAGTGGGTGTGAATGGGGACCCGCCCAGGGCTTTAGGCAGAAGGCAGACCGCCTCCTCTCCGTCCATCCCCCACCTTTGAAGAAAAACTTCCCCTCACCACTAGCTGATTCCATCTCTGAGCAGTGTCTGTGTTGAGAGGTGGGGAGTCTCTACCAGGAGCCTCTGAGCCACTCTCTGTGTTCTCCCAGCCGCAGACTGGGGTGCCCCCACCCCAGGCCTCCCTCCACCACCTCCAGCCACCAGGGGCTCCTGCGCTGCTGCCTCCGCCGCACCAGGGCCTGGGGCAGCCCCAGTTGGGGCCCCCACTCCTGCATCCACCACCTGCCCAGTCCTGGCCCGCACAACTTCCCCCTCGGGCTCCACTGCCAGGTAAGGGGACCCGGGGGAGGGCAGAGGTCTGGACTGAGTGTCCCAGCAGCTCCTGGGCTAGAGCACCAAGACCGAGTGCTCCTGGGAAGTAAAGACATAGGATCCAAGAATGAGGGTTCCCCCATGGCCTTTGCGGAGCTCTGAGGGCTCCGGGAAAGTACAGCCCATGGGTCCAAGGACCTAGTGGGTTAAGAGCGTTTCCCATGATCCTCCTGTGTGTGCTCCTGGGATTGCTGGGAAATGTGGTCTTAGGGCCAGAGAAGTAGTTTTGGAGAAGGGCCCCCAAAGGCTCATGGGAAACAGCATATTTGTAACTAGATGGGGCCAGAAGGTGCTTCTGTTGGGTCCCCCAAGGGCTGCCTAGAAAACTTAGTGCCTCTGGGCCCTCCTGGGCCCAAGGGCCTACTGGGAGATGCAGTCCCTTCCCCACTGCCCCTCAGGTCAGATGCTGCTGAGCGGGGGTCCCCGGGGCCCGGTCCCCCAGCCGGGCCTGCAGCCCAGCGTCATGGAGGACGACATCCTCATGGATCTCATCTGAATCCCCAACACCCAATAAAGTTCCTTTTTAACACACGCCCCGGCTCCCGTCACTGACATCCCTCAGGACTGGGCAGGAGGAAACCCCAGGGGGCATCTCTGTCCTTGTTCTCACTTCAGCAGACATCCCTGGGGCCCTGGGTGAATGACGCTGGGGCCTCCGTGGTGAGTCACAGGCAGTCTGGTGCAACCTGATTCGTGGGAGATGCAGGGACAGGCAGGCAGCGCTCAGGACTCAAGCTCTCATGGAGGTGGCAGGGGCACCATGGGAGCCTGGAAGAGGCATCTGACCCAGCCCCAGCTCCTCAGAGTCTTGAAAGAGAATCAGCCGTCAGGCTGGGAGGGAAGGAGGTGAGGGGTGATCTGGGTGCAGAGGACAACAGAAACTTTGAATACTCAAAGGCAGGAGGAAGCCTGAGACATTGAGAGGAGCAAGTTGATGGATGCTTTTGGAGCATGAGCATGTAGGGAGCTAGAGAGATGGGCAGGTGCAGAGTTTGAGGAGCTCGGATTCCAAACTGAGCAGCCCATGGTTTGTCCTGGGGACACAGGAGAACCAGGAGGCTTTGAGCAGTGGGGCGGGCCTAGGCCAGCTCTGGATGTCAGAAAGACCCCTCTCAGCTGTAGAGCGTGATGAGGCCAGACAGGAGGCCAGGAAAGGTGAGGCTGGGTGGTGGCGGTGTCGGGGGCTGGGGTAGAGGTTCGCTCCCGGGGGCCAGGCCTACGTGATGGTAGGTGGTGGGGCTCCTGGGAGAAGGAGCTGGTAGTAAGTGCAGGTGGTCCAAGGGACATCCAGGTGACAGGTGCCATG | CACCTGGGCTCAGTGGGCCATCTCGCTTGGCGACTCTCACGGGGTTGCCATCAGATGGCAGCTGAGACTCTGGTCATCTGAAACCTTTACTGGGCTGGATGTTCAAAACAGCTCCTCACACAGCCCTGGCTGTTGGCTGGGGCTTGGCTAGGACCGGCCATCCCAGTGTCTGCACATGGCCTGTCCACGTGGCCACACTGTGGCAGCTGGGTTCTGAGAGGGCAGGCGTTGTAGGAGCAGGCATTTATATTTTGCACAGGACAGGACATCTAGAGGGGGCCAGCTATTGGGATTGGTTTCATAGGTCTGTGACATCAGGGACAGGGCCCTGTGGTTCTCTTGGCCTCTCCTTTATAGTCACAAGGTAGCTCTCATGGCTCCACGCATCCTGTGTGCTTTCATGAAGGAGGGGAAGGGGGCTGTGTGTTTCCCTTTCTTCAAGACAGCAGAAACTTTCTCAGATTCCAGAGCAGGCATTCCTTTCACCTCCTATCCCGGACCTAGGCCACTGGGCAGCCCCTAGTTGATGGGAGGCTGCTGGGAGCAGGTATCCGTGACTGTCTGGGGCTGGGACATGTTACAGCCCCAGACAGCATTGGGAATGCAGGGGAGGAGGACACTTGGATATGGAATAGGCAGCTAGCAGGGTCTGTCTCAGGCAGGAAACCGAGGCTCAGAGAAGTCAATTCACTTGGCCAAGGTCAGCCTCGCCTCCCTCAGGAGCCCCTGCCCTGAATGCTCCATGTGTTACCCCCCTGATGACCAGTGATGTTTCCTGGGTGCTTCCTGTGGGCTGAGCCTCAGGCAGGGCTCTTGCTGTGGATCAGACATCGCATAGTCACAGCGACCCTGTGATGTGGGAGCACTCCCCGTGGTGTACACTGGCCGGTGCTGAGGGCTGGAGGATCTCTTGGATACCCGGGGTCCGACCCACCGTTGATCACAGGCCTGTGGGTACCACGCTGTGCATCTAGGCCGCTCTCCCGGCCGTGACCCTCAGCCGCCCTCTGAGGAGGCCGCCGTGGCATTTTATGCCCAAGAAACTGGGTCCATGAGGAGCAGGTGGTGGCTGAAGGTTGAAGAGCTGGGCTCCAGCACTTTCTCTCCGCTTTCCCTCTCAGTGGGCAGCTGGAACCCTAGCTTGCCCTGAGCGCCTCAGTTTCTGTCTCCAGAGCAACCCATAGCACACCTGTTCTCCTTAACCTTCTATAGCAGAAACCTCACCTCACCTTGCCTGTGGGGCCTCTAGAGCCTTCTGGAATGGGGAGGGGGTCAGGGCTGCCTCTTTCAGGGCCTGAATGGTTCTGAAGAGCTGTTGTCCACCCAGGCGGGCTGCGTGCACTTCCCCCACACGGCGCCCTGTGAGGTGCGCGTGCTCATGCTCCTGTACTCGTCCAAGAAGAAGATCTTCATGGGCCTCATCCCCTACGACCAGAGCGGCTTCGTCAACGGCATCCGGCAGGTCATCACCAACCACAAGCAGGTCCAGCAGCAGAAGCTGGAGCAGCAGCAGCGAGGAGTGAGTGTTGACAGTCCCCAAACCAGCACTCCGACCCCCTCCTGCCCGGGCCCCACATGGCCCCCTGGGGTCTCCAGGACCAAGATGCCCACCCTTCTCCCAATATGTGGTGCCTCCAAGCTAAGTCCCACTCAGATTTTCTTGCAGTCTCTCTCCTTTTTCAGCATCCACATCAAAGCCCTGACACAGCTTCCTCCTGGAGACCTTGGAGTGTACGGCATCCCTCCCAGACCACTCACCCCCAAAGAGAATGTCCCCATCTCCTTACTAGTTCCCCTCAGGGCACAGGCCCTCCCGCCTCAGATTCAGGATGCCACCACCCTCAGTTACTGACCTGCCCCTCTCTCCCCGTGCAGATGGGGGGACAGCAGGCACCCCCAGGGCTGGGGCCCATTCTGGAGGACCAAGCCAGGCCCTCACAGAATCTGGTGAGGACAGGGCTGGCGGGGTCGGGGCTGGGTTGGGGAGGCCCCAAGGCTGCGCTCTGTGCCTGCAGAAGGGGCGTGAGGCCCTGCCCATCTCCCTCACCCGTGTCTCTTCCCACCAGCTCCAGCTCCGCCCACCGCAGCCCCAGCCTCAGGGTACCGTAGGGGCCTCTGGGGCCACGGGGCAGCCCCAGCCCCAAGGTACTGCCCAGCCCCCGCCAGGTGCCCCTCAAGGCCCTCCTGGAGCAGCTTCTGGCCCACCCCCTCCTGGACCCATCCTTCGGCCCCAGAACCCTGGGGCCAACCCTCAGCTGCGAAGCCTCCTCCTCAACCCACCACCGGTGAGATGTTGGGGTGGGGTAGCGAGAGTTCCAGATCCTGGCCCTGGTGGTTCTGGTCCTGTTGTCTGGGAGGAGGGAGGTTGACTGTGGTCAGTGGGTGTGAATGGGGACCCGCCCAGGGCTTTAGGCAGAAGGCAGACCGCCTCCTCTCCGTCCATCCCCCACCTTTGAAGAAAAACTTCCCCTCACCACTAGCTGATTCCATCTCTGAGCAGTGTCTGTGTTGAGAGGTGGGGAGTCTCTACCAGGAGCCTCTGAGCCACTCTCTGTGTTCTCCCAGCCGCAGACTGGGGTGCCCCCACCCCAGGCCTCCCTCCACCACCTCCAGCCACCAGGGGCTCCTGCGCTGCTGCCTCCGCCGCACCAGGGCCTGGGGCAGCCCCAGTTGGGGCCCCCACTCCTGCATCCACCACCTGCCCAGTCCTGGCCCGCACAACTTCCCCCTCGGGCTCCACTGCCAGGTAAGGGGACCCGGGGGAGGGCAGAGGTCTGGACTGAGTGTCCCAGCAGCTCCTGGGCTAGAGCACCAAGACCGAGTGCTCCTGGGAAGTAAAGACATAGGATCCAAGAATGAGGGTTCCCCCATGGCCTTTGCGGAGCTCTGAGGGCTCCGGGAAAGTACAGCCCATGGGTCCAAGGACCTAGTGGGTTAAGAGCGTTTCCCATGATCCTCCTGTGTGTGCTCCTGGGATTGCTGGGAAATGTGGTCTTAGGGCCAGAGAAGTAGTTTTGGAGAAGGGCCCCCAAAGGCTCATGGGAAACAGCATATTTGTAACTAGATGGGGCCAGAAGGTGCTTCTGTTGGGTCCCCCAAGGGCTGCCTAGAAAACTTAGTGCCTCTGGGCCCTCCTGGGCCCAAGGGCCTACTGGGAGATGCAGTCCCTTCCCCACTGCCCCTCAGGTCAGATGCTGCTGAGCGGGGGTCCCCGGGGCCCGGTCCCCCAGCCGGGCCTGCAGCCCAGCGTCATGGAGGACGACATCCTCATGGATCTCATCTGAATCCCCAACACCCAATAAAGTTCCTTTTTAACACACGCCCCGGCTCCCGTCACTGACATCCCTCAGGACTGGGCAGGAGGAAACCCCAGGGGGCATCTCTGTCCTTGTTCTCACTTCAGCAGACATCCCTGGGGCCCTGGGTGAATGACGCTGGGGCCTCCGTGGTGAGTCACAGGCAGTCTGGTGCAACCTGATTCGTGGGAGATGCAGGGACAGGCAGGCAGCGCTCAGGACTCAAGCTCTCATGGAGGTGGCAGGGGCACCATGGGAGCCTGGAAGAGGCATCTGACCCAGCCCCAGCTCCTCAGAGTCTTGAAAGAGAATCAGCCGTCAGGCTGGGAGGGAAGGAGGTGAGGGGTGATCTGGGTGCAGAGGACAACAGAAACTTTGAATACTCAAAGGCAGGAGGAAGCCTGAGACATTGAGAGGAGCAAGTTGATGGATGCTTTTGGAGCATGAGCATGTAGGGAGCTAGAGAGATGGGCAGGTGCAGAGTTTGAGGAGCTCGGATTCCAAACTGAGCAGCCCATGGTTTGTCCTGGGGACACAGGAGAACCAGGAGGCTTTGAGCAGTGGGGCGGGCCTAGGCCAGCTCTGGATGTCAGAAAGACCCCTCTCAGCTGTAGAGCGTGATGAGGCCAGACAGGAGGCCAGGAAAGGTGAGGCTGGGTGGTGGCGGTGTCGGGGGCTGGGGTAGAGGTTCGCTCCCGGGGGCCAGGCCTACGTGATGGTAGGTGGTGGGGCTCCTGGGAGAAGGAGCTGGTAGTAAGTGCAGGTGGTCCAAGGGACATCCAGGTGACAGGTGCCATGNN | benign | 308,035 |
Does the chromosome 19 mutation at position 49861542 within gene PNKP (polynucleotide kinase 3'-phosphatase) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Developmental_and_epileptic_encephalopathy,_12', 'Microcephaly,_seizures,_and_developmental_delay', 'PNKP-related_disorder'] | CCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCATTGTACTCCAGCCTGGGCGACAAGAGCGAAACTCAGTCTCAAAAAAAAAAAAAAAGTTTCCTCAAGGAAACCCAGAAAGGCTCCATGTACCTCAGCCCTTGCTTGTGCTGGGCCGGCCGCTGCAGATCCCTCGGGCTCCTGAGTTGAAGCCATGGCCGGTTGGCTCAGGTGGCTGTGGTGAGGTGGCCCCAGACACAGCCTGGCCTGCCCAGGAGCTCTGAAATGCAGGTTCTTGGGCCCTTCCCGACAGAGCCTGTTGGCCTTTGGCCCACCCATTGCTCTTGGCCACCGTGTCATCCCAATAAGGGGGCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCATTGGCCTCATCCCCCATGACCAGGGCAACTTTGTCAACGGCATCCGGCGTGTCATTGCCAACCAGCAGCAGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGG | CCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCATTGTACTCCAGCCTGGGCGACAAGAGCGAAACTCAGTCTCAAAAAAAAAAAAAAAGTTTCCTCAAGGAAACCCAGAAAGGCTCCATGTACCTCAGCCCTTGCTTGTGCTGGGCCGGCCGCTGCAGATCCCTCGGGCTCCTGAGTTGAAGCCATGGCCGGTTGGCTCAGGTGGCTGTGGTGAGGTGGCCCCAGACACAGCCTGGCCTGCCCAGGAGCTCTGAAATGCAGGTTCTTGGGCCCTTCCCGACAGAGCCTGTTGGCCTTTGGCCCACCCATTGCTCTTGGCCACCGTGTCATCCCAATAAGGGGGCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCATTGGCCTCATCCCCCATGACCAGGGCAACTTTGTCAACGGCATCCGGCGTGTCATTGCCAACCAGCAGCAGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGNNNNNNNNNNNNNNNNN | pathogenic | 308,060 |
Gene mutation in PNKP (polynucleotide kinase 3'-phosphatase) at chromosome 19, position 49861672—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Charcot-Marie-Tooth_disease_type_2B2', 'Developmental_and_epileptic_encephalopathy,_12', 'Inborn_genetic_diseases'] | TCAGCCCTTGCTTGTGCTGGGCCGGCCGCTGCAGATCCCTCGGGCTCCTGAGTTGAAGCCATGGCCGGTTGGCTCAGGTGGCTGTGGTGAGGTGGCCCCAGACACAGCCTGGCCTGCCCAGGAGCTCTGAAATGCAGGTTCTTGGGCCCTTCCCGACAGAGCCTGTTGGCCTTTGGCCCACCCATTGCTCTTGGCCACCGTGTCATCCCAATAAGGGGGCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCATTGGCCTCATCCCCCATGACCAGGGCAACTTTGTCAACGGCATCCGGCGTGTCATTGCCAACCAGCAGCAGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTC | TCAGCCCTTGCTTGTGCTGGGCCGGCCGCTGCAGATCCCTCGGGCTCCTGAGTTGAAGCCATGGCCGGTTGGCTCAGGTGGCTGTGGTGAGGTGGCCCCAGACACAGCCTGGCCTGCCCAGGAGCTCTGAAATGCAGGTTCTTGGGCCCTTCCCGACAGAGCCTGTTGGCCTTTGGCCCACCCATTGCTCTTGGCCACCGTGTCATCCCAATAAGGGGGCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCATTGGCCTCATCCCCCATGACCAGGGCAACTTTGTCAACGGCATCCGGCGTGTCATTGCCAACCAGCAGCAGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGC | pathogenic | 308,069 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 19, position 49861703, gene PNKP (polynucleotide kinase 3'-phosphatase). What disease(s) is it linked to if pathogenic? | benign | CAGATCCCTCGGGCTCCTGAGTTGAAGCCATGGCCGGTTGGCTCAGGTGGCTGTGGTGAGGTGGCCCCAGACACAGCCTGGCCTGCCCAGGAGCTCTGAAATGCAGGTTCTTGGGCCCTTCCCGACAGAGCCTGTTGGCCTTTGGCCCACCCATTGCTCTTGGCCACCGTGTCATCCCAATAAGGGGGCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCATTGGCCTCATCCCCCATGACCAGGGCAACTTTGTCAACGGCATCCGGCGTGTCATTGCCAACCAGCAGCAGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGG | CAGATCCCTCGGGCTCCTGAGTTGAAGCCATGGCCGGTTGGCTCAGGTGGCTGTGGTGAGGTGGCCCCAGACACAGCCTGGCCTGCCCAGGAGCTCTGAAATGCAGGTTCTTGGGCCCTTCCCGACAGAGCCTGTTGGCCTTTGGCCCACCCATTGCTCTTGGCCACCGTGTCATCCCAATAAGGGGGCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCATTGGCCTCATCCCCCATGACCAGGGCAACTTTGTCAACGGCATCCGGCGTGTCATTGCCAACCAGCAGCAGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGAAAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGG | benign | 308,074 |
Clinically, how would you classify the variant at chromosome 19, position 49861765, gene PNKP (polynucleotide kinase 3'-phosphatase): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | GGCCCCAGACACAGCCTGGCCTGCCCAGGAGCTCTGAAATGCAGGTTCTTGGGCCCTTCCCGACAGAGCCTGTTGGCCTTTGGCCCACCCATTGCTCTTGGCCACCGTGTCATCCCAATAAGGGGGCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCATTGGCCTCATCCCCCATGACCAGGGCAACTTTGTCAACGGCATCCGGCGTGTCATTGCCAACCAGCAGCAGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGG | GGCCCCAGACACAGCCTGGCCTGCCCAGGAGCTCTGAAATGCAGGTTCTTGGGCCCTTCCCGACAGAGCCTGTTGGCCTTTGGCCCACCCATTGCTCTTGGCCACCGTGTCATCCCAATAAGGGGGCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCATTGGCCTCATCCCCCATGACCAGGGCAACTTTGTCAACGGCATCCGGCGTGTCATTGCCAACCAGCAGCAGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTC | benign | 308,078 |
Assess the variant on chromosome 19, position 49861765, impacting PNKP (polynucleotide kinase 3'-phosphatase): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Ataxia,_early-onset,_with_oculomotor_apraxia_and_hypoalbuminemia', 'Developmental_and_epileptic_encephalopathy,_12', 'Microcephaly,_seizures,_and_developmental_delay', 'PNKP-related_disorder'] | GGCCCCAGACACAGCCTGGCCTGCCCAGGAGCTCTGAAATGCAGGTTCTTGGGCCCTTCCCGACAGAGCCTGTTGGCCTTTGGCCCACCCATTGCTCTTGGCCACCGTGTCATCCCAATAAGGGGGCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCATTGGCCTCATCCCCCATGACCAGGGCAACTTTGTCAACGGCATCCGGCGTGTCATTGCCAACCAGCAGCAGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGG | GGCCCCAGACACAGCCTGGCCTGCCCAGGAGCTCTGAAATGCAGGTTCTTGGGCCCTTCCCGACAGAGCCTGTTGGCCTTTGGCCCACCCATTGCTCTTGGCCACCGTGTCATCCCAATAAGGGGGCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCATTGGCCTCATCCCCCATGACCAGGGCAACTTTGTCAACGGCATCCGGCGTGTCATTGCCAACCAGCAGCAGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGNNNNNNNNNN | pathogenic | 308,079 |
Classify the chromosome 19 variant at position 49861773 affecting gene PNKP (polynucleotide kinase 3'-phosphatase) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Developmental_and_epileptic_encephalopathy,_12'] | ACACAGCCTGGCCTGCCCAGGAGCTCTGAAATGCAGGTTCTTGGGCCCTTCCCGACAGAGCCTGTTGGCCTTTGGCCCACCCATTGCTCTTGGCCACCGTGTCATCCCAATAAGGGGGCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCATTGGCCTCATCCCCCATGACCAGGGCAACTTTGTCAACGGCATCCGGCGTGTCATTGCCAACCAGCAGCAGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACC | ACACAGCCTGGCCTGCCCAGGAGCTCTGAAATGCAGGTTCTTGGGCCCTTCCCGACAGAGCCTGTTGGCCTTTGGCCCACCCATTGCTCTTGGCCACCGTGTCATCCCAATAAGGGGGCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCATTGGCCTCATCCCCCATGACCAGGGCAACTTTGTCAACGGCATCCGGCGTGTCATTGCCAACCAGCAGCAGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCNNNNNNNNNNNNNN | pathogenic | 308,080 |
Does the genetic variant at chromosome 19, position 49861775, impacting gene PNKP (polynucleotide kinase 3'-phosphatase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Developmental_and_epileptic_encephalopathy,_12', 'Inborn_genetic_diseases'] | ACAGCCTGGCCTGCCCAGGAGCTCTGAAATGCAGGTTCTTGGGCCCTTCCCGACAGAGCCTGTTGGCCTTTGGCCCACCCATTGCTCTTGGCCACCGTGTCATCCCAATAAGGGGGCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCATTGGCCTCATCCCCCATGACCAGGGCAACTTTGTCAACGGCATCCGGCGTGTCATTGCCAACCAGCAGCAGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCC | ACAGCCTGGCCTGCCCAGGAGCTCTGAAATGCAGGTTCTTGGGCCCTTCCCGACAGAGCCTGTTGGCCTTTGGCCCACCCATTGCTCTTGGCCACCGTGTCATCCCAATAAGGGGGCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCATTGGCCTCATCCCCCATGACCAGGGCAACTTTGTCAACGGCATCCGGCGTGTCATTGCCAACCAGCAGCAGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATG | pathogenic | 308,081 |
For chromosome 19, position 49861775, gene PNKP (polynucleotide kinase 3'-phosphatase): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Developmental_and_epileptic_encephalopathy,_12'] | ACAGCCTGGCCTGCCCAGGAGCTCTGAAATGCAGGTTCTTGGGCCCTTCCCGACAGAGCCTGTTGGCCTTTGGCCCACCCATTGCTCTTGGCCACCGTGTCATCCCAATAAGGGGGCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCATTGGCCTCATCCCCCATGACCAGGGCAACTTTGTCAACGGCATCCGGCGTGTCATTGCCAACCAGCAGCAGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCC | ACAGCCTGGCCTGCCCAGGAGCTCTGAAATGCAGGTTCTTGGGCCCTTCCCGACAGAGCCTGTTGGCCTTTGGCCCACCCATTGCTCTTGGCCACCGTGTCATCCCAATAAGGGGGCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCATTGGCCTCATCCCCCATGACCAGGGCAACTTTGTCAACGGCATCCGGCGTGTCATTGCCAACCAGCAGCAGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCCNNNNNNN | pathogenic | 308,082 |
Does the genetic variant at chromosome 19, position 49861778, impacting gene PNKP (polynucleotide kinase 3'-phosphatase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Developmental_and_epileptic_encephalopathy,_12', 'Inborn_genetic_diseases'] | GCCTGGCCTGCCCAGGAGCTCTGAAATGCAGGTTCTTGGGCCCTTCCCGACAGAGCCTGTTGGCCTTTGGCCCACCCATTGCTCTTGGCCACCGTGTCATCCCAATAAGGGGGCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCATTGGCCTCATCCCCCATGACCAGGGCAACTTTGTCAACGGCATCCGGCGTGTCATTGCCAACCAGCAGCAGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCCAGC | GCCTGGCCTGCCCAGGAGCTCTGAAATGCAGGTTCTTGGGCCCTTCCCGACAGAGCCTGTTGGCCTTTGGCCCACCCATTGCTCTTGGCCACCGTGTCATCCCAATAAGGGGGCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCATTGGCCTCATCCCCCATGACCAGGGCAACTTTGTCAACGGCATCCGGCGTGTCATTGCCAACCAGCAGCAGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCCAGCNNNNNNNNNNNNNN | pathogenic | 308,084 |
A genetic variant on chromosome 19, position 49861800, affects the gene PNKP (polynucleotide kinase 3'-phosphatase). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Abnormality_of_the_nervous_system', 'Ataxia_-_oculomotor_apraxia_type_4', 'Developmental_and_epileptic_encephalopathy,_12', 'Inborn_genetic_diseases', 'Intellectual_disability', 'Microcephaly,_seizures,_and_developmental_delay'] | GAAATGCAGGTTCTTGGGCCCTTCCCGACAGAGCCTGTTGGCCTTTGGCCCACCCATTGCTCTTGGCCACCGTGTCATCCCAATAAGGGGGCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCATTGGCCTCATCCCCCATGACCAGGGCAACTTTGTCAACGGCATCCGGCGTGTCATTGCCAACCAGCAGCAGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCCAGCCCAGAATTTGTAGCTGATGATG | GAAATGCAGGTTCTTGGGCCCTTCCCGACAGAGCCTGTTGGCCTTTGGCCCACCCATTGCTCTTGGCCACCGTGTCATCCCAATAAGGGGGCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCATTGGCCTCATCCCCCATGACCAGGGCAACTTTGTCAACGGCATCCGGCGTGTCATTGCCAACCAGCAGCAGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCCAGCCCAGA | pathogenic | 308,087 |
Evaluate if the mutation on chromosome 19 at position 49861811 in PNKP (polynucleotide kinase 3'-phosphatase) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Abnormality_of_the_nervous_system', 'Developmental_and_epileptic_encephalopathy,_12', 'Inborn_genetic_diseases'] | TCTTGGGCCCTTCCCGACAGAGCCTGTTGGCCTTTGGCCCACCCATTGCTCTTGGCCACCGTGTCATCCCAATAAGGGGGCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCATTGGCCTCATCCCCCATGACCAGGGCAACTTTGTCAACGGCATCCGGCGTGTCATTGCCAACCAGCAGCAGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCCAGCCCAGAATTTGTAGCTGATGATGGGTTCCTATCA | TCTTGGGCCCTTCCCGACAGAGCCTGTTGGCCTTTGGCCCACCCATTGCTCTTGGCCACCGTGTCATCCCAATAAGGGGGCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCATTGGCCTCATCCCCCATGACCAGGGCAACTTTGTCAACGGCATCCGGCGTGTCATTGCCAACCAGCAGCAGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCCAGCCCAGAATTTGTAGCTGATGATGGGTTCCT | pathogenic | 308,088 |
Does the variant impacting PNKP (polynucleotide kinase 3'-phosphatase) on chromosome 19, position 49861846, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Ataxia_-_oculomotor_apraxia_type_4', 'Charcot-Marie-Tooth_disease_type_2B2', 'Developmental_and_epileptic_encephalopathy,_12', 'Microcephaly,_seizures,_and_developmental_delay'] | GGCCCACCCATTGCTCTTGGCCACCGTGTCATCCCAATAAGGGGGCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCATTGGCCTCATCCCCCATGACCAGGGCAACTTTGTCAACGGCATCCGGCGTGTCATTGCCAACCAGCAGCAGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCCAGCCCAGAATTTGTAGCTGATGATGGGTTCCTATCAGCATCACACTGCCTGAGGCCTCCGCCCCGCTTACC | GGCCCACCCATTGCTCTTGGCCACCGTGTCATCCCAATAAGGGGGCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCATTGGCCTCATCCCCCATGACCAGGGCAACTTTGTCAACGGCATCCGGCGTGTCATTGCCAACCAGCAGCAGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCCAGCCCAGAATTTGTAGCTGATGATGGGTTCCTATCAGCATCACACTGCCTGAGGCCTCCGCCCCGCTTACCNNN | pathogenic | 308,092 |
Mutation at chromosome 19, position 49861890, within PNKP (polynucleotide kinase 3'-phosphatase): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | GCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCATTGGCCTCATCCCCCATGACCAGGGCAACTTTGTCAACGGCATCCGGCGTGTCATTGCCAACCAGCAGCAGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCCAGCCCAGAATTTGTAGCTGATGATGGGTTCCTATCAGCATCACACTGCCTGAGGCCTCCGCCCCGCTTACCCTGGAGTCTAAAGCCCTCGCTCTGGATCTCTGTGCCCCCACATA | GCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCATTGGCCTCATCCCCCATGACCAGGGCAACTTTGTCAACGGCATCCGGCGTGTCATTGCCAACCAGCAGCAGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACAGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCCAGCCCAGAATTTGTAGCTGATGATGGGTTCCTATCAGCATCACACTGCCTGAGGCCTCCGCCCCGCTTACCCTGGAGTCTAAAGCCCTCGCTCTGGATCTCTGTGCCCCCACATAN | benign | 308,096 |
Determine whether the variant at chromosome 19, position 49861899, in gene PNKP (polynucleotide kinase 3'-phosphatase) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | CAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCATTGGCCTCATCCCCCATGACCAGGGCAACTTTGTCAACGGCATCCGGCGTGTCATTGCCAACCAGCAGCAGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCCAGCCCAGAATTTGTAGCTGATGATGGGTTCCTATCAGCATCACACTGCCTGAGGCCTCCGCCCCGCTTACCCTGGAGTCTAAAGCCCTCGCTCTGGATCTCTGTGCCCCCACATAGCTCCCAGC | CAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCATTGGCCTCATCCCCCATGACCAGGGCAACTTTGTCAACGGCATCCGGCGTGTCATTGCCAACCAGCAGCAGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCCAGCCCAGAATTTGTAGCTGATGATGGGTTCCTATCAGCATCACACTGCCTGAGGCCTCCGCCCCGCTTACCCTGGAGTCTAAAGCCCTCGCTCTGGATCTCTGTGCCCCCACATAGCTCCCAGCNNNN | benign | 308,099 |
The genetic variant at chromosome 19, position 49862035, affecting gene PNKP (polynucleotide kinase 3'-phosphatase): benign or pathogenic? Disease name(s) if pathogenic? | benign | CCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCATTGGCCTCATCCCCCATGACCAGGGCAACTTTGTCAACGGCATCCGGCGTGTCATTGCCAACCAGCAGCAGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCCAGCCCAGAATTTGTAGCTGATGATGGGTTCCTATCAGCATCACACTGCCTGAGGCCTCCGCCCCGCTTACCCTGGAGTCTAAAGCCCTCGCTCTGGATCTCTGTGCCCCCACATAGCTCCCAGCCTCCCTTCCAGCCATACCTGGAAGGGGACCCCCAGCTTCTCCACCACAGCCTCCACCTTGGCCTTGAACTCCTCGGCTGGCAGCTTCCCGCGCCCGATGCTCATCTGGTTGGTGAAGATCACCAGCTGGGGAGCAA | CCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCATTGGCCTCATCCCCCATGACCAGGGCAACTTTGTCAACGGCATCCGGCGTGTCATTGCCAACCAGCAGCAGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCCAGCCCAGAATTTGTAGCTGATGATGGGTTCCTATCAGCATCACACTGCCTGAGGCCTCCGCCCCGCTTACCCTGGAGTCTAAAGCCCTCGCTCTGGATCTCTGTGCCCCCACATAGCTCCCAGCCTCCCTTCCAGCCATACCTGGAAGGGGACCCCCAGCTTCTCCACCACAGCCTCCACCTTGGCCTTGAACTCCTCGGCTGGCAGCTTCCCGCGCCCGATGCTCATCTGGTTGGTGAAGATCACCAGCTGGGGAGCAAN | benign | 308,102 |
Considering the genetic mutation at chromosome 19, position 49862383, impacting PNKP (polynucleotide kinase 3'-phosphatase): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Developmental_and_epileptic_encephalopathy,_12'] | TGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCCAGCCCAGAATTTGTAGCTGATGATGGGTTCCTATCAGCATCACACTGCCTGAGGCCTCCGCCCCGCTTACCCTGGAGTCTAAAGCCCTCGCTCTGGATCTCTGTGCCCCCACATAGCTCCCAGCCTCCCTTCCAGCCATACCTGGAAGGGGACCCCCAGCTTCTCCACCACAGCCTCCACCTTGGCCTTGAACTCCTCGGCTGGCAGCTTCCCGCGCCCGATGCTCATCTGGTTGGTGAAGATCACCAGCTGGGGAGCAAAGGGTGTCACCAGACGCTCTGCTCACCAGGGCCTTGGTCTGACTGCGGTCGGACCGCCACGTGCACGTGCCCATGCAGACAGGCGGCTGCACATACCTTGTAGCCCTCGGCTTCCAGCTCTCGGAGCTTACGGGGAATCTCTGGGTACAAGATCCTACGGCAGGTATGAAGCGGCAGGGGTGACCCGGGGCCAGAGGTGGACTCCAGGCCTCACTCACTCCCTTGTTTTGCCTCTTATCACCTCCAGTCACTGGGGCCAGTGGGAAAGACCTTCCCAGAGCGTGTGGTGATGAGCGTCCCGTCCAGATCAAAGCCAGCCACCTGGTGTCACCAAGGAAAGACAAACAG | TGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCCAGCCCAGAATTTGTAGCTGATGATGGGTTCCTATCAGCATCACACTGCCTGAGGCCTCCGCCCCGCTTACCCTGGAGTCTAAAGCCCTCGCTCTGGATCTCTGTGCCCCCACATAGCTCCCAGCCTCCCTTCCAGCCATACCTGGAAGGGGACCCCCAGCTTCTCCACCACAGCCTCCACCTTGGCCTTGAACTCCTCGGCTGGCAGCTTCCCGCGCCCGATGCTCATCTGGTTGGTGAAGATCACCAGCTGGGGAGCAAAGGGTGTCACCAGACGCTCTGCTCACCAGGGCCTTGGTCTGACTGCGGTCGGACCGCCACGTGCACGTGCCCATGCAGACAGGCGGCTGCACATACCTTGTAGCCCTCGGCTTCCAGCTCTCGGAGCTTACGGGGAATCTCTGGGTACAAGATCCTACGGCAGGTATGAAGCGGCAGGGGTGACCCGGGGCCAGAGGTGGACTCCAGGCCTCACTCACTCCCTTGTTTTGCCTCTTATCACCTCCAGTCACTGGGGCCAGTGGGAAAGACCTTCCCAGAGCGTGTGGTGATGAGCGTCCCGTCCAGATCAAAGCCAGCCACCTGGTGTCACCAAGGAAAGACAAACAGNNNNNNNNNNNNNN | pathogenic | 308,121 |
Does the variant on chromosome 19 at location 49862556 affecting gene PNKP (polynucleotide kinase 3'-phosphatase) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Developmental_and_epileptic_encephalopathy,_12', 'PNKP-related_disorder'] | GAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCCAGCCCAGAATTTGTAGCTGATGATGGGTTCCTATCAGCATCACACTGCCTGAGGCCTCCGCCCCGCTTACCCTGGAGTCTAAAGCCCTCGCTCTGGATCTCTGTGCCCCCACATAGCTCCCAGCCTCCCTTCCAGCCATACCTGGAAGGGGACCCCCAGCTTCTCCACCACAGCCTCCACCTTGGCCTTGAACTCCTCGGCTGGCAGCTTCCCGCGCCCGATGCTCATCTGGTTGGTGAAGATCACCAGCTGGGGAGCAAAGGGTGTCACCAGACGCTCTGCTCACCAGGGCCTTGGTCTGACTGCGGTCGGACCGCCACGTGCACGTGCCCATGCAGACAGGCGGCTGCACATACCTTGTAGCCCTCGGCTTCCAGCTCTCGGAGCTTACGGGGAATCTCTGGGTACAAGATCCTACGGCAGGTATGAAGCGGCAGGGGTGACCCGGGGCCAGAGGTGGACTCCAGGCCTCACTCACTCCCTTGTTTTGCCTCTTATCACCTCCAGTCACTGGGGCCAGTGGGAAAGACCTTCCCAGAGCGTGTGGTGATGAGCGTCCCGTCCAGATCAAAGCCAGCCACCTGGTGTCACCAAGGAAAGACAAACAGCAGCACTGTGATACCTCTGACCCTCCTCACTCACAGGCTGACTCACACCAACCCTGCCAGGCAGGGTGTTATCACTGCCATCTCACAGATGGGGAAACCGAGTCACAGAGCACCTCCATCTCAAGCATCCGTGATGCCTCTGAGTGGGGCCCGACATCTTAACCTTACTGTCT | GAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCCAGCCCAGAATTTGTAGCTGATGATGGGTTCCTATCAGCATCACACTGCCTGAGGCCTCCGCCCCGCTTACCCTGGAGTCTAAAGCCCTCGCTCTGGATCTCTGTGCCCCCACATAGCTCCCAGCCTCCCTTCCAGCCATACCTGGAAGGGGACCCCCAGCTTCTCCACCACAGCCTCCACCTTGGCCTTGAACTCCTCGGCTGGCAGCTTCCCGCGCCCGATGCTCATCTGGTTGGTGAAGATCACCAGCTGGGGAGCAAAGGGTGTCACCAGACGCTCTGCTCACCAGGGCCTTGGTCTGACTGCGGTCGGACCGCCACGTGCACGTGCCCATGCAGACAGGCGGCTGCACATACCTTGTAGCCCTCGGCTTCCAGCTCTCGGAGCTTACGGGGAATCTCTGGGTACAAGATCCTACGGCAGGTATGAAGCGGCAGGGGTGACCCGGGGCCAGAGGTGGACTCCAGGCCTCACTCACTCCCTTGTTTTGCCTCTTATCACCTCCAGTCACTGGGGCCAGTGGGAAAGACCTTCCCAGAGCGTGTGGTGATGAGCGTCCCGTCCAGATCAAAGCCAGCCACCTGGTGTCACCAAGGAAAGACAAACAGCAGCACTGTGATACCTCTGACCCTCCTCACTCACAGGCTGACTCACACCAACCCTGCCAGGCAGGGTGTTATCACTGCCATCTCACAGATGGGGAAACCGAGTCACAGAGCACCTCCATCTCAAGCATCCGTGATGCCTCTGAGTGGGGCCCGACATCTTAACCTTACTGTCTNN | pathogenic | 308,129 |
Considering the variant on chromosome 19, location 49862742, involving gene PNKP (polynucleotide kinase 3'-phosphatase), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | ACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCCAGCCCAGAATTTGTAGCTGATGATGGGTTCCTATCAGCATCACACTGCCTGAGGCCTCCGCCCCGCTTACCCTGGAGTCTAAAGCCCTCGCTCTGGATCTCTGTGCCCCCACATAGCTCCCAGCCTCCCTTCCAGCCATACCTGGAAGGGGACCCCCAGCTTCTCCACCACAGCCTCCACCTTGGCCTTGAACTCCTCGGCTGGCAGCTTCCCGCGCCCGATGCTCATCTGGTTGGTGAAGATCACCAGCTGGGGAGCAAAGGGTGTCACCAGACGCTCTGCTCACCAGGGCCTTGGTCTGACTGCGGTCGGACCGCCACGTGCACGTGCCCATGCAGACAGGCGGCTGCACATACCTTGTAGCCCTCGGCTTCCAGCTCTCGGAGCTTACGGGGAATCTCTGGGTACAAGATCCTACGGCAGGTATGAAGCGGCAGGGGTGACCCGGGGCCAGAGGTGGACTCCAGGCCTCACTCACTCCCTTGTTTTGCCTCTTATCACCTCCAGTCACTGGGGCCAGTGGGAAAGACCTTCCCAGAGCGTGTGGTGATGAGCGTCCCGTCCAGATCAAAGCCAGCCACCTGGTGTCACCAAGGAAAGACAAACAGCAGCACTGTGATACCTCTGACCCTCCTCACTCACAGGCTGACTCACACCAACCCTGCCAGGCAGGGTGTTATCACTGCCATCTCACAGATGGGGAAACCGAGTCACAGAGCACCTCCATCTCAAGCATCCGTGATGCCTCTGAGTGGGGCCCGACATCTTAACCTTACTGTCTCCTGTTACTCCTTATGACGCCAGCCCCAGGATTACAGTCTTTAAAATGGGGGTTAATGTCTTACCCAGCCTCCTTCTTCCCCTGGCCTTCACCACCTCGGTGGGCTAATAACCGTGAAAATAAAAGCAGGAGCAAAGCTTTGGGTGCTAACTGCATGTCAGGAACTATGCCACGTGCTTTTTTTAT | ACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCCAGCCCAGAATTTGTAGCTGATGATGGGTTCCTATCAGCATCACACTGCCTGAGGCCTCCGCCCCGCTTACCCTGGAGTCTAAAGCCCTCGCTCTGGATCTCTGTGCCCCCACATAGCTCCCAGCCTCCCTTCCAGCCATACCTGGAAGGGGACCCCCAGCTTCTCCACCACAGCCTCCACCTTGGCCTTGAACTCCTCGGCTGGCAGCTTCCCGCGCCCGATGCTCATCTGGTTGGTGAAGATCACCAGCTGGGGAGCAAAGGGTGTCACCAGACGCTCTGCTCACCAGGGCCTTGGTCTGACTGCGGTCGGACCGCCACGTGCACGTGCCCATGCAGACAGGCGGCTGCACATACCTTGTAGCCCTCGGCTTCCAGCTCTCGGAGCTTACGGGGAATCTCTGGGTACAAGATCCTACGGCAGGTATGAAGCGGCAGGGGTGACCCGGGGCCAGAGGTGGACTCCAGGCCTCACTCACTCCCTTGTTTTGCCTCTTATCACCTCCAGTCACTGGGGCCAGTGGGAAAGACCTTCCCAGAGCGTGTGGTGATGAGCGTCCCGTCCAGATCAAAGCCAGCCACCTGGTGTCACCAAGGAAAGACAAACAGCAGCACTGTGATACCTCTGACCCTCCTCACTCACAGGCTGACTCACACCAACCCTGCCAGGCAGGGTGTTATCACTGCCATCTCACAGATGGGGAAACCGAGTCACAGAGCACCTCCATCTCAAGCATCCGTGATGCCTCTGAGTGGGGCCCGACATCTTAACCTTACTGTCTCCTGTTACTCCTTATGACGCCAGCCCCAGGATTACAGTCTTTAAAATGGGGGTTAATGTCTTACCCAGCCTCCTTCTTCCCCTGGCCTTCACCACCTCGGTGGGCTAATAACCGTGAAAATAAAAGCAGGAGCAAAGCTTTGGGTGCTAACTGCATGTCAGGAACTATGCCACGTGCTTTTTTTATN | benign | 308,136 |
Variant at chromosome position 49864083, chromosome 19, gene PNKP (polynucleotide kinase 3'-phosphatase): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | TGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCCAGCCCAGAATTTGTAGCTGATGATGGGTTCCTATCAGCATCACACTGCCTGAGGCCTCCGCCCCGCTTACCCTGGAGTCTAAAGCCCTCGCTCTGGATCTCTGTGCCCCCACATAGCTCCCAGCCTCCCTTCCAGCCATACCTGGAAGGGGACCCCCAGCTTCTCCACCACAGCCTCCACCTTGGCCTTGAACTCCTCGGCTGGCAGCTTCCCGCGCCCGATGCTCATCTGGTTGGTGAAGATCACCAGCTGGGGAGCAAAGGGTGTCACCAGACGCTCTGCTCACCAGGGCCTTGGTCTGACTGCGGTCGGACCGCCACGTGCACGTGCCCATGCAGACAGGCGGCTGCACATACCTTGTAGCCCTCGGCTTCCAGCTCTCGGAGCTTACGGGGAATCTCTGGGTACAAGATCCTACGGCAGGTATGAAGCGGCAGGGGTGACCCGGGGCCAGAGGTGGACTCCAGGCCTCACTCACTCCCTTGTTTTGCCTCTTATCACCTCCAGTCACTGGGGCCAGTGGGAAAGACCTTCCCAGAGCGTGTGGTGATGAGCGTCCCGTCCAGATCAAAGCCAGCCACCTGGTGTCACCAAGGAAAGACAAACAGCAGCACTGTGATACCTCTGACCCTCCTCACTCACAGGCTGACTCACACCAACCCTGCCAGGCAGGGTGTTATCACTGCCATCTCACAGATGGGGAAACCGAGTCACAGAGCACCTCCATCTCAAGCATCCGTGATGCCTCTGAGTGGGGCCCGACATCTTAACCTTACTGTCTCCTGTTACTCCTTATGACGCCAGCCCCAGGATTACAGTCTTTAAAATGGGGGTTAATGTCTTACCCAGCCTCCTTCTTCCCCTGGCCTTCACCACCTCGGTGGGCTAATAACCGTGAAAATAAAAGCAGGAGCAAAGCTTTGGGTGCTAACTGCATGTCAGGAACTATGCCACGTGCTTTTTTTATGGATTCAGCATCGTAGAGATGAGACACATGGGACTCAGAATGTGGTGGTAACAGCATTTGAACTCAAGTCTCTCTGGACATAAAAAATCCTCATCGTAATAGCTCCTACTGAGACAGTCATGGTCATTGCTGATTACTGGGTGGTCACTGTGGGTAACGCAGGAGCTGACATATATCATTCTCCCCACTGCTTAACTGCTTACAACGATCCCTGCATTTATCATTAGGCCCATTTCTCAGAAAAGTAAGTAGAGGCTAAAAAGTTGAGAGCACGCAACAAACGTGGGATTGGGTCCCAGTCTGTGGCGGCTCCCTCAGCCCTCGGCGTGGCCCTCACCTTGCCCTGGGGTTTCACCCCAGCTGCGGTGAACACTAGCAACTTCTCCAAGTTCTCCCAGCCGGGGTTTGACTTCCGCATACGCTTCTTCGGCAGCTCAGCATCTCTCTTCTCATCTTGGGACACCAGAGGGGTGCCAGGCGGAGTATCTGGCTGGGATTCTGGTGTGCGGGTCTCTTCCCAGCGCAGGGTCAGTGGGTGGAGGCCATTGACCAAATACAGTGTGTCCCCCACCCCCAGAGAGCCCTCCAACCCCGGCTTCAACTCCTGGGTCCCGGTAGTTGAGGGGTTAACTCCCAGCTGCAGAAAGAGAGGGAGGAGCTGGGACTGGCTCCGCCCCCACCGGGAGCTTCCTCCAATCAAATACCCAGCGGAAAAATCAGCCCTTCTCCACCACTATCAGACCCTTAGGCCCCACCTCTTCACTTTGGAACGGGCTTTGGAACGGTTACAGGTTTTCAGCCTTGTCCGAATCTTTTTTTTTTTTTTTTTTTTTTTTCCCCTGGAGATATAGGCTTGTTTTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCATTGAAACCTGTGCCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCTACCCGAGTAGCTGGGATTACAGGCACCCGCCACCATGCCCCGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCACAAACTCCTGATCTCGGGTGATCCGCCCGCCTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCGCCTTGTCCAATTTCTAAGGTCTTGGACAGGTACCCACCCCACTGAAACAGGCAACACTTCTTTCTTTACTGGACACATCCCCTTCTCTCCCAGCCATATTTTTTCTTTTCTTTTTTTGAGACAGGTTCTCGCTCTGTCACCCAGGCTGAAGTACAGTGTGGTGATCACTGCTCACTACACCCTTGACCTACTGGGCTCAAGGGATCCTCCCGCTTCA | TGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCCAGCCCAGAATTTGTAGCTGATGATGGGTTCCTATCAGCATCACACTGCCTGAGGCCTCCGCCCCGCTTACCCTGGAGTCTAAAGCCCTCGCTCTGGATCTCTGTGCCCCCACATAGCTCCCAGCCTCCCTTCCAGCCATACCTGGAAGGGGACCCCCAGCTTCTCCACCACAGCCTCCACCTTGGCCTTGAACTCCTCGGCTGGCAGCTTCCCGCGCCCGATGCTCATCTGGTTGGTGAAGATCACCAGCTGGGGAGCAAAGGTGTCACCAGACGCTCTGCTCACCAGGGCCTTGGTCTGACTGCGGTCGGACCGCCACGTGCACGTGCCCATGCAGACAGGCGGCTGCACATACCTTGTAGCCCTCGGCTTCCAGCTCTCGGAGCTTACGGGGAATCTCTGGGTACAAGATCCTACGGCAGGTATGAAGCGGCAGGGGTGACCCGGGGCCAGAGGTGGACTCCAGGCCTCACTCACTCCCTTGTTTTGCCTCTTATCACCTCCAGTCACTGGGGCCAGTGGGAAAGACCTTCCCAGAGCGTGTGGTGATGAGCGTCCCGTCCAGATCAAAGCCAGCCACCTGGTGTCACCAAGGAAAGACAAACAGCAGCACTGTGATACCTCTGACCCTCCTCACTCACAGGCTGACTCACACCAACCCTGCCAGGCAGGGTGTTATCACTGCCATCTCACAGATGGGGAAACCGAGTCACAGAGCACCTCCATCTCAAGCATCCGTGATGCCTCTGAGTGGGGCCCGACATCTTAACCTTACTGTCTCCTGTTACTCCTTATGACGCCAGCCCCAGGATTACAGTCTTTAAAATGGGGGTTAATGTCTTACCCAGCCTCCTTCTTCCCCTGGCCTTCACCACCTCGGTGGGCTAATAACCGTGAAAATAAAAGCAGGAGCAAAGCTTTGGGTGCTAACTGCATGTCAGGAACTATGCCACGTGCTTTTTTTATGGATTCAGCATCGTAGAGATGAGACACATGGGACTCAGAATGTGGTGGTAACAGCATTTGAACTCAAGTCTCTCTGGACATAAAAAATCCTCATCGTAATAGCTCCTACTGAGACAGTCATGGTCATTGCTGATTACTGGGTGGTCACTGTGGGTAACGCAGGAGCTGACATATATCATTCTCCCCACTGCTTAACTGCTTACAACGATCCCTGCATTTATCATTAGGCCCATTTCTCAGAAAAGTAAGTAGAGGCTAAAAAGTTGAGAGCACGCAACAAACGTGGGATTGGGTCCCAGTCTGTGGCGGCTCCCTCAGCCCTCGGCGTGGCCCTCACCTTGCCCTGGGGTTTCACCCCAGCTGCGGTGAACACTAGCAACTTCTCCAAGTTCTCCCAGCCGGGGTTTGACTTCCGCATACGCTTCTTCGGCAGCTCAGCATCTCTCTTCTCATCTTGGGACACCAGAGGGGTGCCAGGCGGAGTATCTGGCTGGGATTCTGGTGTGCGGGTCTCTTCCCAGCGCAGGGTCAGTGGGTGGAGGCCATTGACCAAATACAGTGTGTCCCCCACCCCCAGAGAGCCCTCCAACCCCGGCTTCAACTCCTGGGTCCCGGTAGTTGAGGGGTTAACTCCCAGCTGCAGAAAGAGAGGGAGGAGCTGGGACTGGCTCCGCCCCCACCGGGAGCTTCCTCCAATCAAATACCCAGCGGAAAAATCAGCCCTTCTCCACCACTATCAGACCCTTAGGCCCCACCTCTTCACTTTGGAACGGGCTTTGGAACGGTTACAGGTTTTCAGCCTTGTCCGAATCTTTTTTTTTTTTTTTTTTTTTTTTCCCCTGGAGATATAGGCTTGTTTTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCATTGAAACCTGTGCCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCTACCCGAGTAGCTGGGATTACAGGCACCCGCCACCATGCCCCGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCACAAACTCCTGATCTCGGGTGATCCGCCCGCCTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCGCCTTGTCCAATTTCTAAGGTCTTGGACAGGTACCCACCCCACTGAAACAGGCAACACTTCTTTCTTTACTGGACACATCCCCTTCTCTCCCAGCCATATTTTTTCTTTTCTTTTTTTGAGACAGGTTCTCGCTCTGTCACCCAGGCTGAAGTACAGTGTGGTGATCACTGCTCACTACACCCTTGACCTACTGGGCTCAAGGGATCCTCCCGCTTCAN | benign | 308,149 |
Variant in gene PNKP (polynucleotide kinase 3'-phosphatase), located at chromosome 19 position 49864211: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Developmental_and_epileptic_encephalopathy,_12', 'Inborn_genetic_diseases'] | CGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCCAGCCCAGAATTTGTAGCTGATGATGGGTTCCTATCAGCATCACACTGCCTGAGGCCTCCGCCCCGCTTACCCTGGAGTCTAAAGCCCTCGCTCTGGATCTCTGTGCCCCCACATAGCTCCCAGCCTCCCTTCCAGCCATACCTGGAAGGGGACCCCCAGCTTCTCCACCACAGCCTCCACCTTGGCCTTGAACTCCTCGGCTGGCAGCTTCCCGCGCCCGATGCTCATCTGGTTGGTGAAGATCACCAGCTGGGGAGCAAAGGGTGTCACCAGACGCTCTGCTCACCAGGGCCTTGGTCTGACTGCGGTCGGACCGCCACGTGCACGTGCCCATGCAGACAGGCGGCTGCACATACCTTGTAGCCCTCGGCTTCCAGCTCTCGGAGCTTACGGGGAATCTCTGGGTACAAGATCCTACGGCAGGTATGAAGCGGCAGGGGTGACCCGGGGCCAGAGGTGGACTCCAGGCCTCACTCACTCCCTTGTTTTGCCTCTTATCACCTCCAGTCACTGGGGCCAGTGGGAAAGACCTTCCCAGAGCGTGTGGTGATGAGCGTCCCGTCCAGATCAAAGCCAGCCACCTGGTGTCACCAAGGAAAGACAAACAGCAGCACTGTGATACCTCTGACCCTCCTCACTCACAGGCTGACTCACACCAACCCTGCCAGGCAGGGTGTTATCACTGCCATCTCACAGATGGGGAAACCGAGTCACAGAGCACCTCCATCTCAAGCATCCGTGATGCCTCTGAGTGGGGCCCGACATCTTAACCTTACTGTCTCCTGTTACTCCTTATGACGCCAGCCCCAGGATTACAGTCTTTAAAATGGGGGTTAATGTCTTACCCAGCCTCCTTCTTCCCCTGGCCTTCACCACCTCGGTGGGCTAATAACCGTGAAAATAAAAGCAGGAGCAAAGCTTTGGGTGCTAACTGCATGTCAGGAACTATGCCACGTGCTTTTTTTATGGATTCAGCATCGTAGAGATGAGACACATGGGACTCAGAATGTGGTGGTAACAGCATTTGAACTCAAGTCTCTCTGGACATAAAAAATCCTCATCGTAATAGCTCCTACTGAGACAGTCATGGTCATTGCTGATTACTGGGTGGTCACTGTGGGTAACGCAGGAGCTGACATATATCATTCTCCCCACTGCTTAACTGCTTACAACGATCCCTGCATTTATCATTAGGCCCATTTCTCAGAAAAGTAAGTAGAGGCTAAAAAGTTGAGAGCACGCAACAAACGTGGGATTGGGTCCCAGTCTGTGGCGGCTCCCTCAGCCCTCGGCGTGGCCCTCACCTTGCCCTGGGGTTTCACCCCAGCTGCGGTGAACACTAGCAACTTCTCCAAGTTCTCCCAGCCGGGGTTTGACTTCCGCATACGCTTCTTCGGCAGCTCAGCATCTCTCTTCTCATCTTGGGACACCAGAGGGGTGCCAGGCGGAGTATCTGGCTGGGATTCTGGTGTGCGGGTCTCTTCCCAGCGCAGGGTCAGTGGGTGGAGGCCATTGACCAAATACAGTGTGTCCCCCACCCCCAGAGAGCCCTCCAACCCCGGCTTCAACTCCTGGGTCCCGGTAGTTGAGGGGTTAACTCCCAGCTGCAGAAAGAGAGGGAGGAGCTGGGACTGGCTCCGCCCCCACCGGGAGCTTCCTCCAATCAAATACCCAGCGGAAAAATCAGCCCTTCTCCACCACTATCAGACCCTTAGGCCCCACCTCTTCACTTTGGAACGGGCTTTGGAACGGTTACAGGTTTTCAGCCTTGTCCGAATCTTTTTTTTTTTTTTTTTTTTTTTTCCCCTGGAGATATAGGCTTGTTTTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCATTGAAACCTGTGCCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCTACCCGAGTAGCTGGGATTACAGGCACCCGCCACCATGCCCCGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCACAAACTCCTGATCTCGGGTGATCCGCCCGCCTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCGCCTTGTCCAATTTCTAAGGTCTTGGACAGGTACCCACCCCACTGAAACAGGCAACACTTCTTTCTTTACTGGACACATCCCCTTCTCTCCCAGCCATATTTTTTCTTTTCTTTTTTTGAGACAGGTTCTCGCTCTGTCACCCAGGCTGAAGTACAGTGTGGTGATCACTGCTCACTACACCCTTGACCTACTGGGCTCAAGGGATCCTCCCGCTTCAGCCTCCCGATTAGGAACTACAAGGACGCGCCACCATTCCCGCTAATTTTTTAGAGAGACAGGTTTCACCATGTCGCTCAGGCTGGTCTCGAACTCCTGGGTTCAAGCGATCCGCCCGCCTCGGCCTCC | CGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCCAGCCCAGAATTTGTAGCTGATGATGGGTTCCTATCAGCATCACACTGCCTGAGGCCTCCGCCCCGCTTACCCTGGAGTCTAAAGCCCTCGCTCTGGATCTCTGTGCCCCCACATAGCTCCCAGCCTCCCTTCCAGCCATACCTGGAAGGGGACCCCCAGCTTCTCCACCACAGCCTCCACCTTGGCCTTGAACTCCTCGGCTGGCAGCTTCCCGCGCCCGATGCTCATCTGGTTGGTGAAGATCACCAGCTGGGGAGCAAAGGGTGTCACCAGACGCTCTGCTCACCAGGGCCTTGGTCTGACTGCGGTCGGACCGCCACGTGCACGTGCCCATGCAGACAGGCGGCTGCACATACCTTGTAGCCCTCGGCTTCCAGCTCTCGGAGCTTAACGGGGAATCTCTGGGTACAAGATCCTACGGCAGGTATGAAGCGGCAGGGGTGACCCGGGGCCAGAGGTGGACTCCAGGCCTCACTCACTCCCTTGTTTTGCCTCTTATCACCTCCAGTCACTGGGGCCAGTGGGAAAGACCTTCCCAGAGCGTGTGGTGATGAGCGTCCCGTCCAGATCAAAGCCAGCCACCTGGTGTCACCAAGGAAAGACAAACAGCAGCACTGTGATACCTCTGACCCTCCTCACTCACAGGCTGACTCACACCAACCCTGCCAGGCAGGGTGTTATCACTGCCATCTCACAGATGGGGAAACCGAGTCACAGAGCACCTCCATCTCAAGCATCCGTGATGCCTCTGAGTGGGGCCCGACATCTTAACCTTACTGTCTCCTGTTACTCCTTATGACGCCAGCCCCAGGATTACAGTCTTTAAAATGGGGGTTAATGTCTTACCCAGCCTCCTTCTTCCCCTGGCCTTCACCACCTCGGTGGGCTAATAACCGTGAAAATAAAAGCAGGAGCAAAGCTTTGGGTGCTAACTGCATGTCAGGAACTATGCCACGTGCTTTTTTTATGGATTCAGCATCGTAGAGATGAGACACATGGGACTCAGAATGTGGTGGTAACAGCATTTGAACTCAAGTCTCTCTGGACATAAAAAATCCTCATCGTAATAGCTCCTACTGAGACAGTCATGGTCATTGCTGATTACTGGGTGGTCACTGTGGGTAACGCAGGAGCTGACATATATCATTCTCCCCACTGCTTAACTGCTTACAACGATCCCTGCATTTATCATTAGGCCCATTTCTCAGAAAAGTAAGTAGAGGCTAAAAAGTTGAGAGCACGCAACAAACGTGGGATTGGGTCCCAGTCTGTGGCGGCTCCCTCAGCCCTCGGCGTGGCCCTCACCTTGCCCTGGGGTTTCACCCCAGCTGCGGTGAACACTAGCAACTTCTCCAAGTTCTCCCAGCCGGGGTTTGACTTCCGCATACGCTTCTTCGGCAGCTCAGCATCTCTCTTCTCATCTTGGGACACCAGAGGGGTGCCAGGCGGAGTATCTGGCTGGGATTCTGGTGTGCGGGTCTCTTCCCAGCGCAGGGTCAGTGGGTGGAGGCCATTGACCAAATACAGTGTGTCCCCCACCCCCAGAGAGCCCTCCAACCCCGGCTTCAACTCCTGGGTCCCGGTAGTTGAGGGGTTAACTCCCAGCTGCAGAAAGAGAGGGAGGAGCTGGGACTGGCTCCGCCCCCACCGGGAGCTTCCTCCAATCAAATACCCAGCGGAAAAATCAGCCCTTCTCCACCACTATCAGACCCTTAGGCCCCACCTCTTCACTTTGGAACGGGCTTTGGAACGGTTACAGGTTTTCAGCCTTGTCCGAATCTTTTTTTTTTTTTTTTTTTTTTTTCCCCTGGAGATATAGGCTTGTTTTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCATTGAAACCTGTGCCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCTACCCGAGTAGCTGGGATTACAGGCACCCGCCACCATGCCCCGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCACAAACTCCTGATCTCGGGTGATCCGCCCGCCTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCGCCTTGTCCAATTTCTAAGGTCTTGGACAGGTACCCACCCCACTGAAACAGGCAACACTTCTTTCTTTACTGGACACATCCCCTTCTCTCCCAGCCATATTTTTTCTTTTCTTTTTTTGAGACAGGTTCTCGCTCTGTCACCCAGGCTGAAGTACAGTGTGGTGATCACTGCTCACTACACCCTTGACCTACTGGGCTCAAGGGATCCTCCCGCTTCAGCCTCCCGATTAGGAACTACAAGGACGCGCCACCATTCCCGCTAATTTTTTAGAGAGACAGGTTTCACCATGTCGCTCAGGCTGGTCTCGAACTCCTGGGTTCAAGCGATCCGCCCGCCTCGGCCTC | pathogenic | 308,155 |
A mutation at chromosome position 49865434 on chromosome 19 in gene PNKP (polynucleotide kinase 3'-phosphatase): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | GCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCCAGCCCAGAATTTGTAGCTGATGATGGGTTCCTATCAGCATCACACTGCCTGAGGCCTCCGCCCCGCTTACCCTGGAGTCTAAAGCCCTCGCTCTGGATCTCTGTGCCCCCACATAGCTCCCAGCCTCCCTTCCAGCCATACCTGGAAGGGGACCCCCAGCTTCTCCACCACAGCCTCCACCTTGGCCTTGAACTCCTCGGCTGGCAGCTTCCCGCGCCCGATGCTCATCTGGTTGGTGAAGATCACCAGCTGGGGAGCAAAGGGTGTCACCAGACGCTCTGCTCACCAGGGCCTTGGTCTGACTGCGGTCGGACCGCCACGTGCACGTGCCCATGCAGACAGGCGGCTGCACATACCTTGTAGCCCTCGGCTTCCAGCTCTCGGAGCTTACGGGGAATCTCTGGGTACAAGATCCTACGGCAGGTATGAAGCGGCAGGGGTGACCCGGGGCCAGAGGTGGACTCCAGGCCTCACTCACTCCCTTGTTTTGCCTCTTATCACCTCCAGTCACTGGGGCCAGTGGGAAAGACCTTCCCAGAGCGTGTGGTGATGAGCGTCCCGTCCAGATCAAAGCCAGCCACCTGGTGTCACCAAGGAAAGACAAACAGCAGCACTGTGATACCTCTGACCCTCCTCACTCACAGGCTGACTCACACCAACCCTGCCAGGCAGGGTGTTATCACTGCCATCTCACAGATGGGGAAACCGAGTCACAGAGCACCTCCATCTCAAGCATCCGTGATGCCTCTGAGTGGGGCCCGACATCTTAACCTTACTGTCTCCTGTTACTCCTTATGACGCCAGCCCCAGGATTACAGTCTTTAAAATGGGGGTTAATGTCTTACCCAGCCTCCTTCTTCCCCTGGCCTTCACCACCTCGGTGGGCTAATAACCGTGAAAATAAAAGCAGGAGCAAAGCTTTGGGTGCTAACTGCATGTCAGGAACTATGCCACGTGCTTTTTTTATGGATTCAGCATCGTAGAGATGAGACACATGGGACTCAGAATGTGGTGGTAACAGCATTTGAACTCAAGTCTCTCTGGACATAAAAAATCCTCATCGTAATAGCTCCTACTGAGACAGTCATGGTCATTGCTGATTACTGGGTGGTCACTGTGGGTAACGCAGGAGCTGACATATATCATTCTCCCCACTGCTTAACTGCTTACAACGATCCCTGCATTTATCATTAGGCCCATTTCTCAGAAAAGTAAGTAGAGGCTAAAAAGTTGAGAGCACGCAACAAACGTGGGATTGGGTCCCAGTCTGTGGCGGCTCCCTCAGCCCTCGGCGTGGCCCTCACCTTGCCCTGGGGTTTCACCCCAGCTGCGGTGAACACTAGCAACTTCTCCAAGTTCTCCCAGCCGGGGTTTGACTTCCGCATACGCTTCTTCGGCAGCTCAGCATCTCTCTTCTCATCTTGGGACACCAGAGGGGTGCCAGGCGGAGTATCTGGCTGGGATTCTGGTGTGCGGGTCTCTTCCCAGCGCAGGGTCAGTGGGTGGAGGCCATTGACCAAATACAGTGTGTCCCCCACCCCCAGAGAGCCCTCCAACCCCGGCTTCAACTCCTGGGTCCCGGTAGTTGAGGGGTTAACTCCCAGCTGCAGAAAGAGAGGGAGGAGCTGGGACTGGCTCCGCCCCCACCGGGAGCTTCCTCCAATCAAATACCCAGCGGAAAAATCAGCCCTTCTCCACCACTATCAGACCCTTAGGCCCCACCTCTTCACTTTGGAACGGGCTTTGGAACGGTTACAGGTTTTCAGCCTTGTCCGAATCTTTTTTTTTTTTTTTTTTTTTTTTCCCCTGGAGATATAGGCTTGTTTTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCATTGAAACCTGTGCCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCTACCCGAGTAGCTGGGATTACAGGCACCCGCCACCATGCCCCGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCACAAACTCCTGATCTCGGGTGATCCGCCCGCCTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCGCCTTGTCCAATTTCTAAGGTCTTGGACAGGTACCCACCCCACTGAAACAGGCAACACTTCTTTCTTTACTGGACACATCCCCTTCTCTCCCAGCCATATTTTTTCTTTTCTTTTTTTGAGACAGGTTCTCGCTCTGTCACCCAGGCTGAAGTACAGTGTGGTGATCACTGCTCACTACACCCTTGACCTACTGGGCTCAAGGGATCCTCCCGCTTCAGCCTCCCGATTAGGAACTACAAGGACGCGCCACCATTCCCGCTAATTTTTTAGAGAGACAGGTTTCACCATGTCGCTCAGGCTGGTCTCGAACTCCTGGGTTCAAGCGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCACGCCCGGCCCCAATCAGATTTTCCTAATGTACCCCTTCACTGACGGCTTGCAATTCCTCCCCAAATCCCATCCCCAGGCCTTGCTGGCCCTTGCAGAGGCACTGATACCTGTTTCACTGCCACTGTCCGGGTCTCAGGATCTGCGACCAGCTCCACTGAGGATTGGAGGGGTGGAGTCAGGATTTGCATCCTTGTGTGATTGGGTCCCTCATTTCTGGGGAGTGTGGCCTGCTTCAGGCTATAGCATCCAGGGAGTAAGAGGCAGTTTATTTCTACATGGGATTGGCTCCTTGACATGCAGTAGCCAGATAGTGGCACTAGGATTGCCTGACACTGGTCCTTGCAAGGGACAGGGAGGTACTTTTCTCTACAGAATTGGTTTCCTCCTTGACAAAAAATGTGGCTAGATATAGGTCCGGGGCTTGGCCTGTTACCATCCATCCCAACCTAGCGACATTTACTTTTCTCCACAGGATCATTTTTCTCTTGACGAAGGTCGTCGCCTGTTTCTGGATTTCCCGATGGCCTGAGCATCATCCGCGCAGTGAACATCCTCCCTAAATCGGCTCGATCCCCTCTCCCCCAAAGGATCTAGCTAATTCTAAATCAAGCACAAACTTTATCTTCCTGTACTCCCTAGAGAGCACCTTCCGACTTCGGGGCTGGCTGCACCACTGCAATCCCGCGTAGCAGCCAAGCGTCCCTCTGGATTGTTCCCGCTTTTGCAGCAGGCCACACCCCCTCCAGCTCAGGCCCCGCTCACCTTGAGTTCTGGAGCACTTCCGGTCCGTAACCTGGGTCAGGGGTCCCCTGCCCAGGACCAGGGCTTGCCCGTCCGAGGGCAGGAAGATGGGGGGCGCTCCCCCAGGGGGGCTCTCGAGCCACAAGCGGCCCGGGGCCTCCACCTCGCCCATCCTGGGTGCCGGCCTGGGGAGCAGGTAAACGGGCTTGAGCGGCGCACAGCCCCAATTTGCTGCAGGAAGTCCCGCCTCCTCCCACATCCACTAGAAAGTTTCCCCACCATTAACTGCTCCGGAAGTCCCACCCGCTCGCCTTCCGCGGGTCGACCCGTTTCCCAGGCGACGACGCGTGCTCCATCCCTCCCCGAGTTGCAATCCCCACTTTCCAGCGTACAGGCAGAGAGCCTCGCACATGCCTCCGCCCCGCCCCGTACTCACCCGGGACCGCGGC | GCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCCAGCCCAGAATTTGTAGCTGATGATGGGTTCCTATCAGCATCACACTGCCTGAGGCCTCCGCCCCGCTTACCCTGGAGTCTAAAGCCCTCGCTCTGGATCTCTGTGCCCCCACATAGCTCCCAGCCTCCCTTCCAGCCATACCTGGAAGGGGACCCCCAGCTTCTCCACCACAGCCTCCACCTTGGCCTTGAACTCCTCGGCTGGCAGCTTCCCGCGCCCGATGCTCATCTGGTTGGTGAAGATCACCAGCTGGGGAGCAAAGGGTGTCACCAGACGCTCTGCTCACCAGGGCCTTGGTCTGACTGCGGTCGGACCGCCACGTGCACGTGCCCATGCAGACAGGCGGCTGCACATACCTTGTAGCCCTCGGCTTCCAGCTCTCGGAGCTTACGGGGAATCTCTGGGTACAAGATCCTACGGCAGGTATGAAGCGGCAGGGGTGACCCGGGGCCAGAGGTGGACTCCAGGCCTCACTCACTCCCTTGTTTTGCCTCTTATCACCTCCAGTCACTGGGGCCAGTGGGAAAGACCTTCCCAGAGCGTGTGGTGATGAGCGTCCCGTCCAGATCAAAGCCAGCCACCTGGTGTCACCAAGGAAAGACAAACAGCAGCACTGTGATACCTCTGACCCTCCTCACTCACAGGCTGACTCACACCAACCCTGCCAGGCAGGGTGTTATCACTGCCATCTCACAGATGGGGAAACCGAGTCACAGAGCACCTCCATCTCAAGCATCCGTGATGCCTCTGAGTGGGGCCCGACATCTTAACCTTACTGTCTCCTGTTACTCCTTATGACGCCAGCCCCAGGATTACAGTCTTTAAAATGGGGGTTAATGTCTTACCCAGCCTCCTTCTTCCCCTGGCCTTCACCACCTCGGTGGGCTAATAACCGTGAAAATAAAAGCAGGAGCAAAGCTTTGGGTGCTAACTGCATGTCAGGAACTATGCCACGTGCTTTTTTTATGGATTCAGCATCGTAGAGATGAGACACATGGGACTCAGAATGTGGTGGTAACAGCATTTGAACTCAAGTCTCTCTGGACATAAAAAATCCTCATCGTAATAGCTCCTACTGAGACAGTCATGGTCATTGCTGATTACTGGGTGGTCACTGTGGGTAACGCAGGAGCTGACATATATCATTCTCCCCACTGCTTAACTGCTTACAACGATCCCTGCATTTATCATTAGGCCCATTTCTCAGAAAAGTAAGTAGAGGCTAAAAAGTTGAGAGCACGCAACAAACGTGGGATTGGGTCCCAGTCTGTGGCGGCTCCCTCAGCCCTCGGCGTGGCCCTCACCTTGCCCTGGGGTTTCACCCCAGCTGCGGTGAACACTAGCAACTTCTCCAAGTTCTCCCAGCCGGGGTTTGACTTCCGCATACGCTTCTTCGGCAGCTCAGCATCTCTCTTCTCATCTTGGGACACCAGAGGGGTGCCAGGCGGAGTATCTGGCTGGGATTCTGGTGTGCGGGTCTCTTCCCAGCGCAGGGTCAGTGGGTGGAGGCCATTGACCAAATACAGTGTGTCCCCCACCCCCAGAGAGCCCTCCAACCCCGGCTTCAACTCCTGGGTCCCGGTAGTTGAGGGGTTAACTCCCAGCTGCAGAAAGAGGGAGGAGCTGGGACTGGCTCCGCCCCCACCGGGAGCTTCCTCCAATCAAATACCCAGCGGAAAAATCAGCCCTTCTCCACCACTATCAGACCCTTAGGCCCCACCTCTTCACTTTGGAACGGGCTTTGGAACGGTTACAGGTTTTCAGCCTTGTCCGAATCTTTTTTTTTTTTTTTTTTTTTTTTCCCCTGGAGATATAGGCTTGTTTTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCATTGAAACCTGTGCCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCTACCCGAGTAGCTGGGATTACAGGCACCCGCCACCATGCCCCGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCACAAACTCCTGATCTCGGGTGATCCGCCCGCCTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCGCCTTGTCCAATTTCTAAGGTCTTGGACAGGTACCCACCCCACTGAAACAGGCAACACTTCTTTCTTTACTGGACACATCCCCTTCTCTCCCAGCCATATTTTTTCTTTTCTTTTTTTGAGACAGGTTCTCGCTCTGTCACCCAGGCTGAAGTACAGTGTGGTGATCACTGCTCACTACACCCTTGACCTACTGGGCTCAAGGGATCCTCCCGCTTCAGCCTCCCGATTAGGAACTACAAGGACGCGCCACCATTCCCGCTAATTTTTTAGAGAGACAGGTTTCACCATGTCGCTCAGGCTGGTCTCGAACTCCTGGGTTCAAGCGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCACGCCCGGCCCCAATCAGATTTTCCTAATGTACCCCTTCACTGACGGCTTGCAATTCCTCCCCAAATCCCATCCCCAGGCCTTGCTGGCCCTTGCAGAGGCACTGATACCTGTTTCACTGCCACTGTCCGGGTCTCAGGATCTGCGACCAGCTCCACTGAGGATTGGAGGGGTGGAGTCAGGATTTGCATCCTTGTGTGATTGGGTCCCTCATTTCTGGGGAGTGTGGCCTGCTTCAGGCTATAGCATCCAGGGAGTAAGAGGCAGTTTATTTCTACATGGGATTGGCTCCTTGACATGCAGTAGCCAGATAGTGGCACTAGGATTGCCTGACACTGGTCCTTGCAAGGGACAGGGAGGTACTTTTCTCTACAGAATTGGTTTCCTCCTTGACAAAAAATGTGGCTAGATATAGGTCCGGGGCTTGGCCTGTTACCATCCATCCCAACCTAGCGACATTTACTTTTCTCCACAGGATCATTTTTCTCTTGACGAAGGTCGTCGCCTGTTTCTGGATTTCCCGATGGCCTGAGCATCATCCGCGCAGTGAACATCCTCCCTAAATCGGCTCGATCCCCTCTCCCCCAAAGGATCTAGCTAATTCTAAATCAAGCACAAACTTTATCTTCCTGTACTCCCTAGAGAGCACCTTCCGACTTCGGGGCTGGCTGCACCACTGCAATCCCGCGTAGCAGCCAAGCGTCCCTCTGGATTGTTCCCGCTTTTGCAGCAGGCCACACCCCCTCCAGCTCAGGCCCCGCTCACCTTGAGTTCTGGAGCACTTCCGGTCCGTAACCTGGGTCAGGGGTCCCCTGCCCAGGACCAGGGCTTGCCCGTCCGAGGGCAGGAAGATGGGGGGCGCTCCCCCAGGGGGGCTCTCGAGCCACAAGCGGCCCGGGGCCTCCACCTCGCCCATCCTGGGTGCCGGCCTGGGGAGCAGGTAAACGGGCTTGAGCGGCGCACAGCCCCAATTTGCTGCAGGAAGTCCCGCCTCCTCCCACATCCACTAGAAAGTTTCCCCACCATTAACTGCTCCGGAAGTCCCACCCGCTCGCCTTCCGCGGGTCGACCCGTTTCCCAGGCGACGACGCGTGCTCCATCCCTCCCCGAGTTGCAATCCCCACTTTCCAGCGTACAGGCAGAGAGCCTCGCACATGCCTCCGCCCCGCCCCGTACTCACCCGGGACCGCGGCNN | benign | 308,179 |
Does the variant impacting PNKP (polynucleotide kinase 3'-phosphatase) on chromosome 19, position 49867061, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Developmental_and_epileptic_encephalopathy,_12'] | TTAGGCCCATTTCTCAGAAAAGTAAGTAGAGGCTAAAAAGTTGAGAGCACGCAACAAACGTGGGATTGGGTCCCAGTCTGTGGCGGCTCCCTCAGCCCTCGGCGTGGCCCTCACCTTGCCCTGGGGTTTCACCCCAGCTGCGGTGAACACTAGCAACTTCTCCAAGTTCTCCCAGCCGGGGTTTGACTTCCGCATACGCTTCTTCGGCAGCTCAGCATCTCTCTTCTCATCTTGGGACACCAGAGGGGTGCCAGGCGGAGTATCTGGCTGGGATTCTGGTGTGCGGGTCTCTTCCCAGCGCAGGGTCAGTGGGTGGAGGCCATTGACCAAATACAGTGTGTCCCCCACCCCCAGAGAGCCCTCCAACCCCGGCTTCAACTCCTGGGTCCCGGTAGTTGAGGGGTTAACTCCCAGCTGCAGAAAGAGAGGGAGGAGCTGGGACTGGCTCCGCCCCCACCGGGAGCTTCCTCCAATCAAATACCCAGCGGAAAAATCAGCCCTTCTCCACCACTATCAGACCCTTAGGCCCCACCTCTTCACTTTGGAACGGGCTTTGGAACGGTTACAGGTTTTCAGCCTTGTCCGAATCTTTTTTTTTTTTTTTTTTTTTTTTCCCCTGGAGATATAGGCTTGTTTTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCATTGAAACCTGTGCCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCTACCCGAGTAGCTGGGATTACAGGCACCCGCCACCATGCCCCGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCACAAACTCCTGATCTCGGGTGATCCGCCCGCCTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCGCCTTGTCCAATTTCTAAGGTCTTGGACAGGTACCCACCCCACTGAAACAGGCAACACTTCTTTCTTTACTGGACACATCCCCTTCTCTCCCAGCCATATTTTTTCTTTTCTTTTTTTGAGACAGGTTCTCGCTCTGTCACCCAGGCTGAAGTACAGTGTGGTGATCACTGCTCACTACACCCTTGACCTACTGGGCTCAAGGGATCCTCCCGCTTCAGCCTCCCGATTAGGAACTACAAGGACGCGCCACCATTCCCGCTAATTTTTTAGAGAGACAGGTTTCACCATGTCGCTCAGGCTGGTCTCGAACTCCTGGGTTCAAGCGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCACGCCCGGCCCCAATCAGATTTTCCTAATGTACCCCTTCACTGACGGCTTGCAATTCCTCCCCAAATCCCATCCCCAGGCCTTGCTGGCCCTTGCAGAGGCACTGATACCTGTTTCACTGCCACTGTCCGGGTCTCAGGATCTGCGACCAGCTCCACTGAGGATTGGAGGGGTGGAGTCAGGATTTGCATCCTTGTGTGATTGGGTCCCTCATTTCTGGGGAGTGTGGCCTGCTTCAGGCTATAGCATCCAGGGAGTAAGAGGCAGTTTATTTCTACATGGGATTGGCTCCTTGACATGCAGTAGCCAGATAGTGGCACTAGGATTGCCTGACACTGGTCCTTGCAAGGGACAGGGAGGTACTTTTCTCTACAGAATTGGTTTCCTCCTTGACAAAAAATGTGGCTAGATATAGGTCCGGGGCTTGGCCTGTTACCATCCATCCCAACCTAGCGACATTTACTTTTCTCCACAGGATCATTTTTCTCTTGACGAAGGTCGTCGCCTGTTTCTGGATTTCCCGATGGCCTGAGCATCATCCGCGCAGTGAACATCCTCCCTAAATCGGCTCGATCCCCTCTCCCCCAAAGGATCTAGCTAATTCTAAATCAAGCACAAACTTTATCTTCCTGTACTCCCTAGAGAGCACCTTCCGACTTCGGGGCTGGCTGCACCACTGCAATCCCGCGTAGCAGCCAAGCGTCCCTCTGGATTGTTCCCGCTTTTGCAGCAGGCCACACCCCCTCCAGCTCAGGCCCCGCTCACCTTGAGTTCTGGAGCACTTCCGGTCCGTAACCTGGGTCAGGGGTCCCCTGCCCAGGACCAGGGCTTGCCCGTCCGAGGGCAGGAAGATGGGGGGCGCTCCCCCAGGGGGGCTCTCGAGCCACAAGCGGCCCGGGGCCTCCACCTCGCCCATCCTGGGTGCCGGCCTGGGGAGCAGGTAAACGGGCTTGAGCGGCGCACAGCCCCAATTTGCTGCAGGAAGTCCCGCCTCCTCCCACATCCACTAGAAAGTTTCCCCACCATTAACTGCTCCGGAAGTCCCACCCGCTCGCCTTCCGCGGGTCGACCCGTTTCCCAGGCGACGACGCGTGCTCCATCCCTCCCCGAGTTGCAATCCCCACTTTCCAGCGTACAGGCAGAGAGCCTCGCACATGCCTCCGCCCCGCCCCGTACTCACCCGGGACCGCGGCTTGGGCTCACGGCCACTTCCGACCAGGGAGGTCCTGCCCGAGGTGCCCCGCCTGCAACCCGGCCGGCGGCGGTCGGTTCCTCGGCGGACGGAAATGACTCGTCCCCTCGTGGGTGGGGGGCGGGGCCTGGCCTCCTCCCACAGCAGCCACGCCCCTTCCCCGACTCCCGGCCCCCAGGGTCTCTCGGCAGCCCTGACCTTCATCTCTCTTGCTGCAACGCGAGGCTCAGGCCGGTAGCGGGGACTGGATCCTCCGTTAGCAGATTTGCCTCTTTCCACCTTGACTTCTAATTTTCATCCCAGGGAGGAAGATTTTTTTCCCATCTGATGGTCATTGTCAGTCGAGGAAACCTCCGCCCCCGACAGCGCCCCTAAGTCCTTCTTTGGCTTCACCCTCGATGTTCTAGTTTCCTCATCTATAAAAAGGATAATCGTTTCCGCTTCGTGGGGTTACCATGACGATTAAAGGAGCTAACACGTGACAAAAGCTTTAAAAAATGGGTGGTAGTGAGCCCTGTTTAAGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCTGCAAGCTCCGCCTCCCGGGTTGACGCCATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAGCTAATTTTTTGTATTTTGAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGACGGTCTCGATCTCCTGATCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTCAGATCCGTTTAAGTCTTATTTAGTGTTAGCATTCTTTCGGTAGTGGTCTGGTGGGACTACGTTTACCTAGTCCTAATTTCGGACGAGGTTCCACCTGCTTTCTAACCTCCAGCCATTTTTTTTTCCCTTTGGAGAAGGGGTCTCACTGTGCTGCCCAGGCTGATCTCGACCTCCTGGTGTCATGTGATCCTCCCGCCTTGGCCTCCCAGCGTGTTGGGCTTATAGGCGTGAGGCACCAAGCCCAGTTGCTCCAGTCCTTTTATAATAGAAGACTCCCGGCTGGAGTTCCTGGCTTTGCTGGTGAATATGTGGGCTCTGTCTCCAACACTCACCTCCTCAAGATTGGGTTCCATGGTCACATAAGACTGGGATGCTCTCCTCCACCCCATGAACCTGTGTCTTCATATCTATAAAATGGGCACAAAGCCAGGCGCCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATTTGAGGTCAGGAGTTCAAGACCATCCTGACCAACATGATGAAACCCTGTTTCTACTGAAAATACAAAAATTACCCGGGCGGCAGTGGCGCGTAATCCCAGCTACTCGGGAGGTTGAGGCAGGAGAATCGCTTGAACCTGGGCGAGAGTGGGACCCTGTCTCAAAAAAGTAAATAAAATGGGCACAGTAATTCCAACCCCCAGCTATTCACTGATAATCAGACGCTGCCATTCGGTTTCAGAAAATGTTGAATGAACACTCACAACACACTTCACATTTATCTCAGAGGTAAAACTCTTTAATCTCAGAGCGCCCCTCCCAACTGCCGATCCCCCAACCCCTCACT | TTAGGCCCATTTCTCAGAAAAGTAAGTAGAGGCTAAAAAGTTGAGAGCACGCAACAAACGTGGGATTGGGTCCCAGTCTGTGGCGGCTCCCTCAGCCCTCGGCGTGGCCCTCACCTTGCCCTGGGGTTTCACCCCAGCTGCGGTGAACACTAGCAACTTCTCCAAGTTCTCCCAGCCGGGGTTTGACTTCCGCATACGCTTCTTCGGCAGCTCAGCATCTCTCTTCTCATCTTGGGACACCAGAGGGGTGCCAGGCGGAGTATCTGGCTGGGATTCTGGTGTGCGGGTCTCTTCCCAGCGCAGGGTCAGTGGGTGGAGGCCATTGACCAAATACAGTGTGTCCCCCACCCCCAGAGAGCCCTCCAACCCCGGCTTCAACTCCTGGGTCCCGGTAGTTGAGGGGTTAACTCCCAGCTGCAGAAAGAGAGGGAGGAGCTGGGACTGGCTCCGCCCCCACCGGGAGCTTCCTCCAATCAAATACCCAGCGGAAAAATCAGCCCTTCTCCACCACTATCAGACCCTTAGGCCCCACCTCTTCACTTTGGAACGGGCTTTGGAACGGTTACAGGTTTTCAGCCTTGTCCGAATCTTTTTTTTTTTTTTTTTTTTTTTTCCCCTGGAGATATAGGCTTGTTTTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCATTGAAACCTGTGCCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCTACCCGAGTAGCTGGGATTACAGGCACCCGCCACCATGCCCCGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCACAAACTCCTGATCTCGGGTGATCCGCCCGCCTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCGCCTTGTCCAATTTCTAAGGTCTTGGACAGGTACCCACCCCACTGAAACAGGCAACACTTCTTTCTTTACTGGACACATCCCCTTCTCTCCCAGCCATATTTTTTCTTTTCTTTTTTTGAGACAGGTTCTCGCTCTGTCACCCAGGCTGAAGTACAGTGTGGTGATCACTGCTCACTACACCCTTGACCTACTGGGCTCAAGGGATCCTCCCGCTTCAGCCTCCCGATTAGGAACTACAAGGACGCGCCACCATTCCCGCTAATTTTTTAGAGAGACAGGTTTCACCATGTCGCTCAGGCTGGTCTCGAACTCCTGGGTTCAAGCGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCACGCCCGGCCCCAATCAGATTTTCCTAATGTACCCCTTCACTGACGGCTTGCAATTCCTCCCCAAATCCCATCCCCAGGCCTTGCTGGCCCTTGCAGAGGCACTGATACCTGTTTCACTGCCACTGTCCGGGTCTCAGGATCTGCGACCAGCTCCACTGAGGATTGGAGGGGTGGAGTCAGGATTTGCATCCTTGTGTGATTGGGTCCCTCATTTCTGGGGAGTGTGGCCTGCTTCAGGCTATAGCATCCAGGGAGTAAGAGGCAGTTTATTTCTACATGGGATTGGCTCCTTGACATGCAGTAGCCAGATAGTGGCACTAGGATTGCCTGACACTGGTCCTTGCAAGGGACAGGGAGGTACTTTTCTCTACAGAATTGGTTTCCTCCTTGACAAAAAATGTGGCTAGATATAGGTCCGGGGCTTGGCCTGTTACCATCCATCCCAACCTAGCGACATTTACTTTTCTCCACAGGATCATTTTTCTCTTGACGAAGGTCGTCGCCTGTTTCTGGATTTCCCGATGGCCTGAGCATCATCCGCGCAGTGAACATCCTCCCTAAATCGGCTCGATCCCCTCTCCCCCAAAGGATCTAGCTAATTCTAAATCAAGCACAAACTTTATCTTCCTGTACTCCCTAGAGAGCACCTTCCGACTTCGGGGCTGGCTGCACCACTGCAATCCCGCGTAGCAGCCAAGCGTCCCTCTGGATTGTTCCCGCTTTTGCAGCAGGCCACACCCCCTCCAGCTCAGGCCCCGCTCACCTTGAGTTTGGAGCACTTCCGGTCCGTAACCTGGGTCAGGGGTCCCCTGCCCAGGACCAGGGCTTGCCCGTCCGAGGGCAGGAAGATGGGGGGCGCTCCCCCAGGGGGGCTCTCGAGCCACAAGCGGCCCGGGGCCTCCACCTCGCCCATCCTGGGTGCCGGCCTGGGGAGCAGGTAAACGGGCTTGAGCGGCGCACAGCCCCAATTTGCTGCAGGAAGTCCCGCCTCCTCCCACATCCACTAGAAAGTTTCCCCACCATTAACTGCTCCGGAAGTCCCACCCGCTCGCCTTCCGCGGGTCGACCCGTTTCCCAGGCGACGACGCGTGCTCCATCCCTCCCCGAGTTGCAATCCCCACTTTCCAGCGTACAGGCAGAGAGCCTCGCACATGCCTCCGCCCCGCCCCGTACTCACCCGGGACCGCGGCTTGGGCTCACGGCCACTTCCGACCAGGGAGGTCCTGCCCGAGGTGCCCCGCCTGCAACCCGGCCGGCGGCGGTCGGTTCCTCGGCGGACGGAAATGACTCGTCCCCTCGTGGGTGGGGGGCGGGGCCTGGCCTCCTCCCACAGCAGCCACGCCCCTTCCCCGACTCCCGGCCCCCAGGGTCTCTCGGCAGCCCTGACCTTCATCTCTCTTGCTGCAACGCGAGGCTCAGGCCGGTAGCGGGGACTGGATCCTCCGTTAGCAGATTTGCCTCTTTCCACCTTGACTTCTAATTTTCATCCCAGGGAGGAAGATTTTTTTCCCATCTGATGGTCATTGTCAGTCGAGGAAACCTCCGCCCCCGACAGCGCCCCTAAGTCCTTCTTTGGCTTCACCCTCGATGTTCTAGTTTCCTCATCTATAAAAAGGATAATCGTTTCCGCTTCGTGGGGTTACCATGACGATTAAAGGAGCTAACACGTGACAAAAGCTTTAAAAAATGGGTGGTAGTGAGCCCTGTTTAAGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCTGCAAGCTCCGCCTCCCGGGTTGACGCCATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAGCTAATTTTTTGTATTTTGAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGACGGTCTCGATCTCCTGATCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTCAGATCCGTTTAAGTCTTATTTAGTGTTAGCATTCTTTCGGTAGTGGTCTGGTGGGACTACGTTTACCTAGTCCTAATTTCGGACGAGGTTCCACCTGCTTTCTAACCTCCAGCCATTTTTTTTTCCCTTTGGAGAAGGGGTCTCACTGTGCTGCCCAGGCTGATCTCGACCTCCTGGTGTCATGTGATCCTCCCGCCTTGGCCTCCCAGCGTGTTGGGCTTATAGGCGTGAGGCACCAAGCCCAGTTGCTCCAGTCCTTTTATAATAGAAGACTCCCGGCTGGAGTTCCTGGCTTTGCTGGTGAATATGTGGGCTCTGTCTCCAACACTCACCTCCTCAAGATTGGGTTCCATGGTCACATAAGACTGGGATGCTCTCCTCCACCCCATGAACCTGTGTCTTCATATCTATAAAATGGGCACAAAGCCAGGCGCCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATTTGAGGTCAGGAGTTCAAGACCATCCTGACCAACATGATGAAACCCTGTTTCTACTGAAAATACAAAAATTACCCGGGCGGCAGTGGCGCGTAATCCCAGCTACTCGGGAGGTTGAGGCAGGAGAATCGCTTGAACCTGGGCGAGAGTGGGACCCTGTCTCAAAAAAGTAAATAAAATGGGCACAGTAATTCCAACCCCCAGCTATTCACTGATAATCAGACGCTGCCATTCGGTTTCAGAAAATGTTGAATGAACACTCACAACACACTTCACATTTATCTCAGAGGTAAAACTCTTTAATCTCAGAGCGCCCCTCCCAACTGCCGATCCCCCAACCCCTCACTN | pathogenic | 308,188 |
Evaluate if the mutation on chromosome 19 at position 49867141 in PNKP (polynucleotide kinase 3'-phosphatase) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Developmental_and_epileptic_encephalopathy,_12'] | TGGCGGCTCCCTCAGCCCTCGGCGTGGCCCTCACCTTGCCCTGGGGTTTCACCCCAGCTGCGGTGAACACTAGCAACTTCTCCAAGTTCTCCCAGCCGGGGTTTGACTTCCGCATACGCTTCTTCGGCAGCTCAGCATCTCTCTTCTCATCTTGGGACACCAGAGGGGTGCCAGGCGGAGTATCTGGCTGGGATTCTGGTGTGCGGGTCTCTTCCCAGCGCAGGGTCAGTGGGTGGAGGCCATTGACCAAATACAGTGTGTCCCCCACCCCCAGAGAGCCCTCCAACCCCGGCTTCAACTCCTGGGTCCCGGTAGTTGAGGGGTTAACTCCCAGCTGCAGAAAGAGAGGGAGGAGCTGGGACTGGCTCCGCCCCCACCGGGAGCTTCCTCCAATCAAATACCCAGCGGAAAAATCAGCCCTTCTCCACCACTATCAGACCCTTAGGCCCCACCTCTTCACTTTGGAACGGGCTTTGGAACGGTTACAGGTTTTCAGCCTTGTCCGAATCTTTTTTTTTTTTTTTTTTTTTTTTCCCCTGGAGATATAGGCTTGTTTTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCATTGAAACCTGTGCCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCTACCCGAGTAGCTGGGATTACAGGCACCCGCCACCATGCCCCGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCACAAACTCCTGATCTCGGGTGATCCGCCCGCCTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCGCCTTGTCCAATTTCTAAGGTCTTGGACAGGTACCCACCCCACTGAAACAGGCAACACTTCTTTCTTTACTGGACACATCCCCTTCTCTCCCAGCCATATTTTTTCTTTTCTTTTTTTGAGACAGGTTCTCGCTCTGTCACCCAGGCTGAAGTACAGTGTGGTGATCACTGCTCACTACACCCTTGACCTACTGGGCTCAAGGGATCCTCCCGCTTCAGCCTCCCGATTAGGAACTACAAGGACGCGCCACCATTCCCGCTAATTTTTTAGAGAGACAGGTTTCACCATGTCGCTCAGGCTGGTCTCGAACTCCTGGGTTCAAGCGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCACGCCCGGCCCCAATCAGATTTTCCTAATGTACCCCTTCACTGACGGCTTGCAATTCCTCCCCAAATCCCATCCCCAGGCCTTGCTGGCCCTTGCAGAGGCACTGATACCTGTTTCACTGCCACTGTCCGGGTCTCAGGATCTGCGACCAGCTCCACTGAGGATTGGAGGGGTGGAGTCAGGATTTGCATCCTTGTGTGATTGGGTCCCTCATTTCTGGGGAGTGTGGCCTGCTTCAGGCTATAGCATCCAGGGAGTAAGAGGCAGTTTATTTCTACATGGGATTGGCTCCTTGACATGCAGTAGCCAGATAGTGGCACTAGGATTGCCTGACACTGGTCCTTGCAAGGGACAGGGAGGTACTTTTCTCTACAGAATTGGTTTCCTCCTTGACAAAAAATGTGGCTAGATATAGGTCCGGGGCTTGGCCTGTTACCATCCATCCCAACCTAGCGACATTTACTTTTCTCCACAGGATCATTTTTCTCTTGACGAAGGTCGTCGCCTGTTTCTGGATTTCCCGATGGCCTGAGCATCATCCGCGCAGTGAACATCCTCCCTAAATCGGCTCGATCCCCTCTCCCCCAAAGGATCTAGCTAATTCTAAATCAAGCACAAACTTTATCTTCCTGTACTCCCTAGAGAGCACCTTCCGACTTCGGGGCTGGCTGCACCACTGCAATCCCGCGTAGCAGCCAAGCGTCCCTCTGGATTGTTCCCGCTTTTGCAGCAGGCCACACCCCCTCCAGCTCAGGCCCCGCTCACCTTGAGTTCTGGAGCACTTCCGGTCCGTAACCTGGGTCAGGGGTCCCCTGCCCAGGACCAGGGCTTGCCCGTCCGAGGGCAGGAAGATGGGGGGCGCTCCCCCAGGGGGGCTCTCGAGCCACAAGCGGCCCGGGGCCTCCACCTCGCCCATCCTGGGTGCCGGCCTGGGGAGCAGGTAAACGGGCTTGAGCGGCGCACAGCCCCAATTTGCTGCAGGAAGTCCCGCCTCCTCCCACATCCACTAGAAAGTTTCCCCACCATTAACTGCTCCGGAAGTCCCACCCGCTCGCCTTCCGCGGGTCGACCCGTTTCCCAGGCGACGACGCGTGCTCCATCCCTCCCCGAGTTGCAATCCCCACTTTCCAGCGTACAGGCAGAGAGCCTCGCACATGCCTCCGCCCCGCCCCGTACTCACCCGGGACCGCGGCTTGGGCTCACGGCCACTTCCGACCAGGGAGGTCCTGCCCGAGGTGCCCCGCCTGCAACCCGGCCGGCGGCGGTCGGTTCCTCGGCGGACGGAAATGACTCGTCCCCTCGTGGGTGGGGGGCGGGGCCTGGCCTCCTCCCACAGCAGCCACGCCCCTTCCCCGACTCCCGGCCCCCAGGGTCTCTCGGCAGCCCTGACCTTCATCTCTCTTGCTGCAACGCGAGGCTCAGGCCGGTAGCGGGGACTGGATCCTCCGTTAGCAGATTTGCCTCTTTCCACCTTGACTTCTAATTTTCATCCCAGGGAGGAAGATTTTTTTCCCATCTGATGGTCATTGTCAGTCGAGGAAACCTCCGCCCCCGACAGCGCCCCTAAGTCCTTCTTTGGCTTCACCCTCGATGTTCTAGTTTCCTCATCTATAAAAAGGATAATCGTTTCCGCTTCGTGGGGTTACCATGACGATTAAAGGAGCTAACACGTGACAAAAGCTTTAAAAAATGGGTGGTAGTGAGCCCTGTTTAAGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCTGCAAGCTCCGCCTCCCGGGTTGACGCCATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAGCTAATTTTTTGTATTTTGAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGACGGTCTCGATCTCCTGATCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTCAGATCCGTTTAAGTCTTATTTAGTGTTAGCATTCTTTCGGTAGTGGTCTGGTGGGACTACGTTTACCTAGTCCTAATTTCGGACGAGGTTCCACCTGCTTTCTAACCTCCAGCCATTTTTTTTTCCCTTTGGAGAAGGGGTCTCACTGTGCTGCCCAGGCTGATCTCGACCTCCTGGTGTCATGTGATCCTCCCGCCTTGGCCTCCCAGCGTGTTGGGCTTATAGGCGTGAGGCACCAAGCCCAGTTGCTCCAGTCCTTTTATAATAGAAGACTCCCGGCTGGAGTTCCTGGCTTTGCTGGTGAATATGTGGGCTCTGTCTCCAACACTCACCTCCTCAAGATTGGGTTCCATGGTCACATAAGACTGGGATGCTCTCCTCCACCCCATGAACCTGTGTCTTCATATCTATAAAATGGGCACAAAGCCAGGCGCCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATTTGAGGTCAGGAGTTCAAGACCATCCTGACCAACATGATGAAACCCTGTTTCTACTGAAAATACAAAAATTACCCGGGCGGCAGTGGCGCGTAATCCCAGCTACTCGGGAGGTTGAGGCAGGAGAATCGCTTGAACCTGGGCGAGAGTGGGACCCTGTCTCAAAAAAGTAAATAAAATGGGCACAGTAATTCCAACCCCCAGCTATTCACTGATAATCAGACGCTGCCATTCGGTTTCAGAAAATGTTGAATGAACACTCACAACACACTTCACATTTATCTCAGAGGTAAAACTCTTTAATCTCAGAGCGCCCCTCCCAACTGCCGATCCCCCAACCCCTCACTCTCTCCCCCACACCAGGGCCGGAGAGTGAGGGCCCCTGCCCCCCACCTTGGGTGGACGAGGGCCCTTTAAGGCACCTGTG | TGGCGGCTCCCTCAGCCCTCGGCGTGGCCCTCACCTTGCCCTGGGGTTTCACCCCAGCTGCGGTGAACACTAGCAACTTCTCCAAGTTCTCCCAGCCGGGGTTTGACTTCCGCATACGCTTCTTCGGCAGCTCAGCATCTCTCTTCTCATCTTGGGACACCAGAGGGGTGCCAGGCGGAGTATCTGGCTGGGATTCTGGTGTGCGGGTCTCTTCCCAGCGCAGGGTCAGTGGGTGGAGGCCATTGACCAAATACAGTGTGTCCCCCACCCCCAGAGAGCCCTCCAACCCCGGCTTCAACTCCTGGGTCCCGGTAGTTGAGGGGTTAACTCCCAGCTGCAGAAAGAGAGGGAGGAGCTGGGACTGGCTCCGCCCCCACCGGGAGCTTCCTCCAATCAAATACCCAGCGGAAAAATCAGCCCTTCTCCACCACTATCAGACCCTTAGGCCCCACCTCTTCACTTTGGAACGGGCTTTGGAACGGTTACAGGTTTTCAGCCTTGTCCGAATCTTTTTTTTTTTTTTTTTTTTTTTTCCCCTGGAGATATAGGCTTGTTTTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCATTGAAACCTGTGCCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCTACCCGAGTAGCTGGGATTACAGGCACCCGCCACCATGCCCCGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCACAAACTCCTGATCTCGGGTGATCCGCCCGCCTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCGCCTTGTCCAATTTCTAAGGTCTTGGACAGGTACCCACCCCACTGAAACAGGCAACACTTCTTTCTTTACTGGACACATCCCCTTCTCTCCCAGCCATATTTTTTCTTTTCTTTTTTTGAGACAGGTTCTCGCTCTGTCACCCAGGCTGAAGTACAGTGTGGTGATCACTGCTCACTACACCCTTGACCTACTGGGCTCAAGGGATCCTCCCGCTTCAGCCTCCCGATTAGGAACTACAAGGACGCGCCACCATTCCCGCTAATTTTTTAGAGAGACAGGTTTCACCATGTCGCTCAGGCTGGTCTCGAACTCCTGGGTTCAAGCGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCACGCCCGGCCCCAATCAGATTTTCCTAATGTACCCCTTCACTGACGGCTTGCAATTCCTCCCCAAATCCCATCCCCAGGCCTTGCTGGCCCTTGCAGAGGCACTGATACCTGTTTCACTGCCACTGTCCGGGTCTCAGGATCTGCGACCAGCTCCACTGAGGATTGGAGGGGTGGAGTCAGGATTTGCATCCTTGTGTGATTGGGTCCCTCATTTCTGGGGAGTGTGGCCTGCTTCAGGCTATAGCATCCAGGGAGTAAGAGGCAGTTTATTTCTACATGGGATTGGCTCCTTGACATGCAGTAGCCAGATAGTGGCACTAGGATTGCCTGACACTGGTCCTTGCAAGGGACAGGGAGGTACTTTTCTCTACAGAATTGGTTTCCTCCTTGACAAAAAATGTGGCTAGATATAGGTCCGGGGCTTGGCCTGTTACCATCCATCCCAACCTAGCGACATTTACTTTTCTCCACAGGATCATTTTTCTCTTGACGAAGGTCGTCGCCTGTTTCTGGATTTCCCGATGGCCTGAGCATCATCCGCGCAGTGAACATCCTCCCTAAATCGGCTCGATCCCCTCTCCCCCAAAGGATCTAGCTAATTCTAAATCAAGCACAAACTTTATCTTCCTGTACTCCCTAGAGAGCACCTTCCGACTTCGGGGCTGGCTGCACCACTGCAATCCCGCGTAGCAGCCAAGCGTCCCTCTGGATTGTTCCCGCTTTTGCAGCAGGCCACACCCCCTCCAGCTCAGGCCCCGCTCACCTTGAGTTCTGGAGCACTTCCGGTCCGTAACCTGGGTCAGGGGTCCCCTGCCCAGGACCAGGGCTTGCCCGTCCGAGGGCAGGAAGATGGGGGGGCGCTCCCCCAGGGGGGCTCTCGAGCCACAAGCGGCCCGGGGCCTCCACCTCGCCCATCCTGGGTGCCGGCCTGGGGAGCAGGTAAACGGGCTTGAGCGGCGCACAGCCCCAATTTGCTGCAGGAAGTCCCGCCTCCTCCCACATCCACTAGAAAGTTTCCCCACCATTAACTGCTCCGGAAGTCCCACCCGCTCGCCTTCCGCGGGTCGACCCGTTTCCCAGGCGACGACGCGTGCTCCATCCCTCCCCGAGTTGCAATCCCCACTTTCCAGCGTACAGGCAGAGAGCCTCGCACATGCCTCCGCCCCGCCCCGTACTCACCCGGGACCGCGGCTTGGGCTCACGGCCACTTCCGACCAGGGAGGTCCTGCCCGAGGTGCCCCGCCTGCAACCCGGCCGGCGGCGGTCGGTTCCTCGGCGGACGGAAATGACTCGTCCCCTCGTGGGTGGGGGGCGGGGCCTGGCCTCCTCCCACAGCAGCCACGCCCCTTCCCCGACTCCCGGCCCCCAGGGTCTCTCGGCAGCCCTGACCTTCATCTCTCTTGCTGCAACGCGAGGCTCAGGCCGGTAGCGGGGACTGGATCCTCCGTTAGCAGATTTGCCTCTTTCCACCTTGACTTCTAATTTTCATCCCAGGGAGGAAGATTTTTTTCCCATCTGATGGTCATTGTCAGTCGAGGAAACCTCCGCCCCCGACAGCGCCCCTAAGTCCTTCTTTGGCTTCACCCTCGATGTTCTAGTTTCCTCATCTATAAAAAGGATAATCGTTTCCGCTTCGTGGGGTTACCATGACGATTAAAGGAGCTAACACGTGACAAAAGCTTTAAAAAATGGGTGGTAGTGAGCCCTGTTTAAGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCTGCAAGCTCCGCCTCCCGGGTTGACGCCATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAGCTAATTTTTTGTATTTTGAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGACGGTCTCGATCTCCTGATCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTCAGATCCGTTTAAGTCTTATTTAGTGTTAGCATTCTTTCGGTAGTGGTCTGGTGGGACTACGTTTACCTAGTCCTAATTTCGGACGAGGTTCCACCTGCTTTCTAACCTCCAGCCATTTTTTTTTCCCTTTGGAGAAGGGGTCTCACTGTGCTGCCCAGGCTGATCTCGACCTCCTGGTGTCATGTGATCCTCCCGCCTTGGCCTCCCAGCGTGTTGGGCTTATAGGCGTGAGGCACCAAGCCCAGTTGCTCCAGTCCTTTTATAATAGAAGACTCCCGGCTGGAGTTCCTGGCTTTGCTGGTGAATATGTGGGCTCTGTCTCCAACACTCACCTCCTCAAGATTGGGTTCCATGGTCACATAAGACTGGGATGCTCTCCTCCACCCCATGAACCTGTGTCTTCATATCTATAAAATGGGCACAAAGCCAGGCGCCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATTTGAGGTCAGGAGTTCAAGACCATCCTGACCAACATGATGAAACCCTGTTTCTACTGAAAATACAAAAATTACCCGGGCGGCAGTGGCGCGTAATCCCAGCTACTCGGGAGGTTGAGGCAGGAGAATCGCTTGAACCTGGGCGAGAGTGGGACCCTGTCTCAAAAAAGTAAATAAAATGGGCACAGTAATTCCAACCCCCAGCTATTCACTGATAATCAGACGCTGCCATTCGGTTTCAGAAAATGTTGAATGAACACTCACAACACACTTCACATTTATCTCAGAGGTAAAACTCTTTAATCTCAGAGCGCCCCTCCCAACTGCCGATCCCCCAACCCCTCACTCTCTCCCCCACACCAGGGCCGGAGAGTGAGGGCCCCTGCCCCCCACCTTGGGTGGACGAGGGCCCTTTAAGGCACCTGT | pathogenic | 308,191 |
The genetic variant at chromosome 19, position 50293221, affecting gene MYH14 (myosin heavy chain 14): benign or pathogenic? Disease name(s) if pathogenic? | benign | CAGCACCTTTATAAACATCCATGCCCCAGAGGCTGGCTTCCTTCTTCTTCTATTTTACATTTCTTTCATTTAAAATGCTGCACTTTTAAGTCAAATTTCCTCATTTTTTTGTTTGTTTCTTTGTTTGTTCAGTTGGTTTTTTTTTTTTTGAGACAGTCTCATTCTGTCACCCAGGCTGGAGTGCAGCGACGTGATCTCAGCTCACAGCAACTCTGCCTCCCAGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCATAATTTTTGTATTTTTAGTAGAGACAAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGATCTCTTGGCCTCAAGTGATCCACCCGCCCCCATGGTTTTGTTTTTGAAGTGAAAATACCATATGGTTTTTTGGCCAGACACAGTGGCTCACACCTGTAATCCCACCACTTTGGGAGGCCAAGATGGGCAGATCACCTGAGGTCAGGAGTTCAATACCAGCCTGGCCAATATGGTGAAACCCTGTTTCTACTAAAAATACAAGAATTAGCCAGGCATGGTGGCACGCACCTGTGGTCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAATCCGGGAGGCAGTGGTTGCAGTGAGTTGAGATCCCACCAGTGCACTCCAGCCTGGGTGACAGAGCGAGACTGTCTCAAAAAAGTAAAGATAGAAATAAAATAAATAAATCAACAGTAGGCAAACTGAGGCTCAGAGAGGGGCAGTGGCTGGCTCACAGTCACCCAGCAAGGATATGGCCAAGTTGTAATTCAAACCCATGTCTATCTAACTTGAAGCCAGGCTCCATCAGGCTTCCAGCTGCCTTCTAGTTCTCAGCCAGGTCAACCTCCTCCCTTGAGGACCAGAGTGGGAGAGGCTGGCTCAGGGTCACACAGCAAGTGGCTTTATACACAGGAGCCCAGGTCTGCAGGGTTCGGAGAGTTCCCTGCTTGTTCACGGGAGCTGAGGAGCCCCGTCGGTCTGGCAAGGGGGTGGAGGAGTTCCCTGTGCTGTGTGGCCAGGCTGAGCCCATCTACCTATTCCGTTCCACCCAGGCCCAGATGAAGGAGCTATGGCGGGAGGTGGAGGAGACACGCACCTCCCGGGAGGAGATCTTCTCCCAGAATCGGGAAAGTGAAAAGCGCCTCAAGGGCCTGGAGGCTGAGGTGCTGCGGCTGCAGGAGGTGAGGCTGGGGTAGGCTGGGCCCTGGGACAGGAAGCTGGGAGGTGGGCAAGGCTAACCTTGAGGTCCCTGGATGTGAAGCTGGGGAGGTGGGCGGGGCTAACCACAGGGTCCCTGGATGTGAAGCTGGGGAGGTGGGCGGGGCTAACCACAGGGTCCCTGGATGTGAAGCTGGGGAGGTGGGCGGGGCTAACCACAGGGTCCCAGGGTGTAAGGCTCGGGAGGTGGGTGTGTCTTACCATGTGGCCTGCAATGCCAGCCTAAGAGCAGGGATTTTGTCTTAGGGCACTAGGGAGCCATGGAAAGATCCAGAACAGAGGATGGGCAGGGTCAGCTCTGTAGCAGTTGAACTGGAGTGGGGAGATTGGAGTCACAAAGGCTGTGGGAGTGGGAGTGGGAGAGGGGAGAGAGAGAGAGATTGAGAAAGAGAGAGAGAACCCTGAGCCAGGGCCAAGGGGATGCAGAGGACGGAGAAGGCAGTCAGAAGGCAGGAGGGAGAAGGCTATGGTGAGGGGGGCCGGAGGAGGGGAGGAGAGCACTGGGGGTCTGGCCCGGTGATTGGGGGACCCTGGAGGAGAGGCAGGTTTGAGAGGAGGACCTGTGTGCAGTAAAAGGTGGAGAGGGTGAGGGGCCTGGGGGTTGGGCTGCAAGAGGTGAGCACAGGTCAGGGGCTCAGGAGACAGATTTAGGAGACATCTGTAGGTTGCAGCTCATTCCAGGGTTACCCAGGGACAGCATGAGAAAAAAGCCAAGAGCCTTGAGGTGTGAGGGACAGAGAAAGGGGTGAGACCCGTGCCCAGATTGCTTCTCCTCACACCCACCGGCCACCCCTCCATCATCACAGGAACTGGCCGCCTCGGACCGTGCTCGGCGGCAGGCCCAGCAGGACCGGGATGAGATGGCAGATGAGGTGGCCAATGGTAACCTTAGCAAGTAAGTGCCCCAAGGGTCTGAAGGCTGAGGTACTGCGTCTGCAGGAGGTGAAGCTGGGGTAGGCTGGAGGTGGCTGGGCTCTGGGACAGGAAACTGGGAGGTGGGCGGGGTTAACCTCGGGGCCCCTGGGGTGTGAGGCTGGGGAGATGCGTGGGGCTAACCACAGGGTCCTGTAGTGTGAGGCAAGGCACCCTCCTCTGACCATCCTGTCCTTTCATCCCCACGCCTTCCTGTCTCCCTAGGGCAGCCATTCTGGAGGAGAAGCGTCAGCTGGAGGGGCGCCTGGGGCAGTTGGAGGAAGAGCTGGAGGAGGAGCAGAGCAACTCGGAGCTGCTCAATGACCGCTACCGCAAGCTGCTCCTGCAGGTGAGCGTGATTGACCGCCCCCACCAGCCTCAGTCCCCATTGACCTGGGACCGTAACCTTCAGTCCTCTTATTCAACAAATATAGAAAGGGGATATTTGAGTTGGGTTTTGAAGGTTGAATAGGAGTTCTTAAAAGGGTTGAAAGGCATGATTCACTTGTATTTCTGAGGGGTTTCTTCAGGGCTAAATCCAAAGATGAATTATGTGGGGAAACAGACATGGGCCAGCAAGTGTGATCATGGAAGTCTCCTGGGCCCAGTAGAGAGAGAGAAAAGACTTTCTGCAGGAGTCATAAGAAAACATTTGGAAAAAGAGACATTTGGCTGGGGGTTTTAAAGCATAAGTTGGAGTTCAGCAGAGGGAGAAAAGCATGTTTTCCTTTGCATATTTATTTATAAATATTTTCTGAGGATTCCGGTGGCCCAGATCCTATTCCGGGTTATGCTGGGGACCTGGAGATGGTTAATACTAAGCCTCTGCCCTCAAACACGTCTTAGTCTAAAGGAGGAAATAGACCATCCCAATACAGAGATACAAGTGAAAATGGAGGAAACACGGGCACTGTGGGAACCTAGAAGGGACTACCAACCTAGCCTGGAGGATAGAGGCCATCAGAGAAGGCTTCCTGGTGGAGGTGATGCCTTGAGAGATCTTAAAGGAAGTGTAAGAGTTTGCCAAGAAGACAACAGAGTGATGGGATTTCCAAGGACAAACCAATGTCTGCATTCTTCATTAGTTTTTTTCTAATTTTTTTTTTTTTTTTTTGAGGTGGAGTCTCCCTCTGTTGCCCAAGCTGGAGTGCAGTGGTGCTATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGATTCTCCAATTTTCTCTACAAAATATTTAAAAATTAGCCAGGTGCAGTGGTGCATGCCTGTAGTCCAACTACCTGGGAGGCTGAGGAGGGAGGATCGCTTCAGCCTGGGAGATTGAGGCTGCAGTGAGCTATGATTGTGTCACTGCACTCCAGCCTGGGTGACTGGATGACAGAGTGAGACCCTGTCTCAAAAAAAAAAGGTAATAATTATATGCTCAACAGTTATGTGTAGTAAGACTACTTTTTAAATGGAGAGAATGGGGAAAATATGCAAAATGTTTTAACCTACTTTAATTGATGGTGATAGTATTAGCACTGTTTTTCTGAGACATTGAGTTTATAATGTGGGATAAAGTAAATGATCAAAGATGGGATACTATGTCATCTACTACGTCCTTGACATCAGGGTACTCAGCACCAAAGAACCTTGATATAGTTGTCCTAGAGAAGAGATTAAGTTTTTTTTTTTTTTTTTTTTTAAAAACAGGCCAGGTGTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCATGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCAGAGCTTGCAGT | CAGCACCTTTATAAACATCCATGCCCCAGAGGCTGGCTTCCTTCTTCTTCTATTTTACATTTCTTTCATTTAAAATGCTGCACTTTTAAGTCAAATTTCCTCATTTTTTTGTTTGTTTCTTTGTTTGTTCAGTTGGTTTTTTTTTTTTTGAGACAGTCTCATTCTGTCACCCAGGCTGGAGTGCAGCGACGTGATCTCAGCTCACAGCAACTCTGCCTCCCAGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCATAATTTTTGTATTTTTAGTAGAGACAAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGATCTCTTGGCCTCAAGTGATCCACCCGCCCCCATGGTTTTGTTTTTGAAGTGAAAATACCATATGGTTTTTTGGCCAGACACAGTGGCTCACACCTGTAATCCCACCACTTTGGGAGGCCAAGATGGGCAGATCACCTGAGGTCAGGAGTTCAATACCAGCCTGGCCAATATGGTGAAACCCTGTTTCTACTAAAAATACAAGAATTAGCCAGGCATGGTGGCACGCACCTGTGGTCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAATCCGGGAGGCAGTGGTTGCAGTGAGTTGAGATCCCACCAGTGCACTCCAGCCTGGGTGACAGAGCGAGACTGTCTCAAAAAAGTAAAGATAGAAATAAAATAAATAAATCAACAGTAGGCAAACTGAGGCTCAGAGAGGGGCAGTGGCTGGCTCACAGTCACCCAGCAAGGATATGGCCAAGTTGTAATTCAAACCCATGTCTATCTAACTTGAAGCCAGGCTCCATCAGGCTTCCAGCTGCCTTCTAGTTCTCAGCCAGGTCAACCTCCTCCCTTGAGGACCAGAGTGGGAGAGGCTGGCTCAGGGTCACACAGCAAGTGGCTTTATACACAGGAGCCCAGGTCTGCAGGGTTCGGAGAGTTCCCTGCTTGTTCACGGGAGCTGAGGAGCCCCGTCGGTCTGGCAAGGGGGTGGAGGAGTTCCCTGTGCTGTGTGGCCAGGCTGAGCCCATCTACCTATTCCGTTCCACCCAGGCCCAGATGAAGGAGCTATGGCGGGAGGTGGAGGAGACACGCACCTCCCGGGAGGAGATCTTCTCCCAGAATCGGGAAAGTGAAAAGCGCCTCAAGGGCCTGGAGGCTGAGGTGCTGCGGCTGCAGGAGGTGAGGCTGGGGTAGGCTGGGCCCTGGGACAGGAAGCTGGGAGGTGGGCAAGGCTAACCTTGAGGTCCCTGGATGTGAAGCTGGGGAGGTGGGCGGGGCTAACCACAGGGTCCCTGGATGTGAAGCTGGGGAGGTGGGCGGGGCTAACCACAGGGTCCCTGGATGTGAAGCTGGGGAGGTGGGCGGGGCTAACCACAGGGTCCCAGGGTGTAAGGCTCGGGAGGTGGGTGTGTCTTACCATGTGGCCTGCAATGCCAGCCTAAGAGCAGGGATTTTGTCTTAGGGCACTAGGGAGCCATGGAAAGATCCAGAACAGAGGATGGGCAGGGTCAGCTCTGTAGCAGTTGAACTGGAGTGGGGAGATTGGAGTCACAAAGGCTGTGGGAGTGGGAGTGGGAGAGGGGAGAGAGAGAGAGATTGAGAAAGAGAGAGAGAACCCTGAGCCAGGGCCAAGGGGATGCAGAGGACGGAGAAGGCAGTCAGAAGGCAGGAGGGAGAAGGCTATGGTGAGGGGGGCCGGAGGAGGGGAGGAGAGCACTGGGGGTCTGGCCCGGTGATTGGGGGACCCTGGAGGAGAGGCAGGTTTGAGAGGAGGACCTGTGTGCAGTAAAAGGTGGAGAGGGTGAGGGGCCTGGGGGTTGGGCTGCAAGAGGTGAGCACAGGTCAGGGGCTCAGGAGACAGATTTAGGAGACATCTGTAGGTTGCAGCTCATTCCAGGGTTACCCAGGGACAGCATGAGAAAAAAGCCAAGAGCCTTGAGGTGTGAGGGACAGAGAAAGGGGTGAGACCCGTGCCCAGATTGCTTCTCCTCACACCCACCGGCCACCCCTCCATCACAGGAACTGGCCGCCTCGGACCGTGCTCGGCGGCAGGCCCAGCAGGACCGGGATGAGATGGCAGATGAGGTGGCCAATGGTAACCTTAGCAAGTAAGTGCCCCAAGGGTCTGAAGGCTGAGGTACTGCGTCTGCAGGAGGTGAAGCTGGGGTAGGCTGGAGGTGGCTGGGCTCTGGGACAGGAAACTGGGAGGTGGGCGGGGTTAACCTCGGGGCCCCTGGGGTGTGAGGCTGGGGAGATGCGTGGGGCTAACCACAGGGTCCTGTAGTGTGAGGCAAGGCACCCTCCTCTGACCATCCTGTCCTTTCATCCCCACGCCTTCCTGTCTCCCTAGGGCAGCCATTCTGGAGGAGAAGCGTCAGCTGGAGGGGCGCCTGGGGCAGTTGGAGGAAGAGCTGGAGGAGGAGCAGAGCAACTCGGAGCTGCTCAATGACCGCTACCGCAAGCTGCTCCTGCAGGTGAGCGTGATTGACCGCCCCCACCAGCCTCAGTCCCCATTGACCTGGGACCGTAACCTTCAGTCCTCTTATTCAACAAATATAGAAAGGGGATATTTGAGTTGGGTTTTGAAGGTTGAATAGGAGTTCTTAAAAGGGTTGAAAGGCATGATTCACTTGTATTTCTGAGGGGTTTCTTCAGGGCTAAATCCAAAGATGAATTATGTGGGGAAACAGACATGGGCCAGCAAGTGTGATCATGGAAGTCTCCTGGGCCCAGTAGAGAGAGAGAAAAGACTTTCTGCAGGAGTCATAAGAAAACATTTGGAAAAAGAGACATTTGGCTGGGGGTTTTAAAGCATAAGTTGGAGTTCAGCAGAGGGAGAAAAGCATGTTTTCCTTTGCATATTTATTTATAAATATTTTCTGAGGATTCCGGTGGCCCAGATCCTATTCCGGGTTATGCTGGGGACCTGGAGATGGTTAATACTAAGCCTCTGCCCTCAAACACGTCTTAGTCTAAAGGAGGAAATAGACCATCCCAATACAGAGATACAAGTGAAAATGGAGGAAACACGGGCACTGTGGGAACCTAGAAGGGACTACCAACCTAGCCTGGAGGATAGAGGCCATCAGAGAAGGCTTCCTGGTGGAGGTGATGCCTTGAGAGATCTTAAAGGAAGTGTAAGAGTTTGCCAAGAAGACAACAGAGTGATGGGATTTCCAAGGACAAACCAATGTCTGCATTCTTCATTAGTTTTTTTCTAATTTTTTTTTTTTTTTTTTGAGGTGGAGTCTCCCTCTGTTGCCCAAGCTGGAGTGCAGTGGTGCTATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGATTCTCCAATTTTCTCTACAAAATATTTAAAAATTAGCCAGGTGCAGTGGTGCATGCCTGTAGTCCAACTACCTGGGAGGCTGAGGAGGGAGGATCGCTTCAGCCTGGGAGATTGAGGCTGCAGTGAGCTATGATTGTGTCACTGCACTCCAGCCTGGGTGACTGGATGACAGAGTGAGACCCTGTCTCAAAAAAAAAAGGTAATAATTATATGCTCAACAGTTATGTGTAGTAAGACTACTTTTTAAATGGAGAGAATGGGGAAAATATGCAAAATGTTTTAACCTACTTTAATTGATGGTGATAGTATTAGCACTGTTTTTCTGAGACATTGAGTTTATAATGTGGGATAAAGTAAATGATCAAAGATGGGATACTATGTCATCTACTACGTCCTTGACATCAGGGTACTCAGCACCAAAGAACCTTGATATAGTTGTCCTAGAGAAGAGATTAAGTTTTTTTTTTTTTTTTTTTTTAAAAACAGGCCAGGTGTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCATGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCAGAGCTTGCAGTNNN | benign | 308,384 |
Variant in POLD1 (DNA polymerase delta 1, catalytic subunit), chromosome 19, position 50399360—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | TTGCTTGAACTGGGTCCCGGGAAGCGGAAGTTGCAGTGAATCGAGATTGTGCCACTGTACTCCAGCCTGGGCAACAAGAGTGAGATTCTGTCTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTTGCTCTGTGGCCCAGGATGGAGTACAATGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCTACCTCACCTGGCTAATTTTTGTATTTTTAGTGGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCACACCCGGCCCTGATTATGTCTTTAAAAGAAAGAAAAAGAAAACACAAATATATATAAGTAGCAGTCTGTATGTGTTTTGTGTTGTGTTTTGTTTGCTACTGTGGGTCCTGGACTCGGGGAGAAAGCAGGTTACTATAAACGGCATTTTGGAGACAGTTGGAGAAATTGGGAAAGGTGCCCTTTATTTTATATCAACCTTGAGTCAGTGTTAAATGTCCTAGATTGTATCGTACTGTGCTCGGTGAAAGGAATTCCTTATTGTTAGGCACTACGTGCTAACATGTGGAGGGGTATGGGATCTGCAAGGAACTCTCAAATTACTCAGGAAAAGAAGTAACAATATGATGTGCATACCGCACATGTGGGAGGGCAGAGAGAGGCGGTGAGAGAGCACACACACGACACGCTGACCACCGGGGAGCCTGGGGAAGGGCATACAGGAGTTCTAGGCATTTGAGATTATTTCAAAGTATTTAGGTTGGTGCAAAAGTAATTGCAGTTTTTGTCATTTCAATGGCAGATGGCCTGGGCAGATGGGTGGTTGGTAGGCGAGGTATCGGAGACAGAGGTTTATGGAAAATAAAGAGATGTGCCAAGGCCGGGCGCGGAGACTCAGGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGCGAGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCGTCTCTACTCAAAACACAAAAATTAGCTGGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGGGAGAATCGCTTGAACCTGGGAGGTAGAGCTTGCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGTGACAAGAGCACAATTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGCAAGAGATGTGCTAAGGACCTAGTGTGATGGGAGAGAGGGTCGGGGAGTCGACGGGGCTGCTGCTGCAGTAGCTAACAATTGAGCGTCTGGAATGTGCTCCCACCCCACTGCCTGCAGGGTGCAGAGAGCTATGTTAGTACAGCCAGTCCAGAGTAGGAAAAGGCTCGTGGTCATGGTGGGTGCATGGGATGCCATGGAGACAGGGTAAGAGGTGTCTCCGGTCAGAACCTCCACCAAGCTCCAACTTGCCCAGCAGGATGGATGGCAAGCGGCGGCCAGGCCCAGGGCCCGGGGTGCCCCCAAAGCGGGCCCGTGGGGGCCTCTGGGATGATGATGATGCACCTCGGCCATCCCAATTCGAGGAGGACCTGGCACTGATGGAGGAGATGGAGGCAGAACACAGGCTGCAGGAGCAGGAGGAGGAGGAGCTGCAGTCAGTCCTGGAGGGGGTTGCAGACGGTAAGGCTTGGAGTTGGAGGTTCCTGCTGCCCAACCCATTGCCCCTGGTCTTGCCTTTGGTCCAAGAGTCAGCTGCAAAGCTGACCTGTGACCCCACTCTGGCCAATTTTGAATCCTACAAAGGACTGCCCTTCCACCCCGTGCAGCCTGTGTGGCCTACAGTGATTCTGGCCCTGACCCTTGACCCTCATTCTCTTCCAAGTTTCCTGCCTGACCCAGACCACCACCTCTGCCTGGCTCCTTTCAGAACCACATGCCATCCTGGCCGGGGAAGACCATGACTCCATGTACTCCACTTCCTTCCCTTCCCCCACCAGGGCAGGTCCCACCATCAGCCATAGATCCTCGCTGGCTTCGGCCCACACCACCAGCGCTGGACCCCCAGACAGAGCCCCTCATCTTCCAACAGTTGGAGATTGACCATTATGTGGGTGAGTTTAGGGGTTATGGGTGAGTGCTGGGGCCCTGCGCTCCTGGGGCAGAGGCCGGGCCAGGTCAGCCCCTCTGGCCCTGTGCTCCTGGGGCAGAGGCCGGGCCAGGTCAGCCCCTCTGGCTCTGCCCCTCTGGTTGCCATAGAGCTGTAGTGACAGAACAGACCAGTGGGTGCCAGGGGTTGTGGAGTGCGAAGCGAAGGTGACACAGGGTCAGCTTGAGGGAGGTGCTTGGAGCGTTGATCTGTTTTGCATACGTAGTAGCTGCAGCCTGTGCAAGGACCTCTGTGCCTTAAAATTCATAACACCAGACACATAAACCAAAAGTCAATTTGACTTCTTTTTTTTGAGATGGAGTCTTGCCCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCACACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGCTTTTGCCAAGTTGGCTAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTTAGATTACAGGTGTGAGCCATTGTGCCAGCCCAATTTGACTTTTTAAAAGATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAAGATTTTCCTCTGTTGCCCAGGCTGGAGTGCACCTGGCCAATAATTTTTTTTTTTTTTTTTTTTTTTTTTAAGATGGAGTCTTGCTCCTGTCGCCCAGGCTGGAGTGCAGTGGCACACTCTTGGCTCACTATAACCTCCGCCTCCTGGGTTCAAGTGATCCTTCTTCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCGCCATCACGCCCGGCTAATTTTTATATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGGCTGGTTTCAAACTCCTAACCTCAGGTGATCTGCCGACCTTGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGTAACTGTGCCCCGCCTATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCCCTCTGTCACCCAGGCTGGAGAGCAGTGGCACAATCATGGTTCACTGTAACCTCAACCTCCAGGGCTCAAGTGATCCTCCCACCTCAGCCTCGGAGTAGCTAGGACTACAGGTGTGCACCACAATGTCTGGCTAACTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTTGCTGGGACTACAGGCACCCGCCCCAACTCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTTTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCTTGAGCCACCGCGCCCGGCCTGGCTAACTTTTAAAAATATACTTTTGGGCCCGGCATGGTGGCTCACTTTTGGAGGCTGAGGCAGGCTGATCACTTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATTCAAAAAATTAGCCAGGTGTGGTGGCATGGGCCTGTAATCTCAGCTGTTCAGGTGGCTGAGGCACAAGAATCCTTTCAACCTGGGAGGTGGTTGAAATATAAATATAAGATATATATATATGATATATTCTTTATGTATTAATTTATGTATAACATATATTATATATTAATATATTTTGTAGAGACAAATATATTTATTTGTACATATAATATGTGTGTGTATTTGTGTATATGTGTATATATATATATATATATATATATTTTTTTTTTTTTTTT | TTGCTTGAACTGGGTCCCGGGAAGCGGAAGTTGCAGTGAATCGAGATTGTGCCACTGTACTCCAGCCTGGGCAACAAGAGTGAGATTCTGTCTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTTGCTCTGTGGCCCAGGATGGAGTACAATGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCTACCTCACCTGGCTAATTTTTGTATTTTTAGTGGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCACACCCGGCCCTGATTATGTCTTTAAAAGAAAGAAAAAGAAAACACAAATATATATAAGTAGCAGTCTGTATGTGTTTTGTGTTGTGTTTTGTTTGCTACTGTGGGTCCTGGACTCGGGGAGAAAGCAGGTTACTATAAACGGCATTTTGGAGACAGTTGGAGAAATTGGGAAAGGTGCCCTTTATTTTATATCAACCTTGAGTCAGTGTTAAATGTCCTAGATTGTATCGTACTGTGCTCGGTGAAAGGAATTCCTTATTGTTAGGCACTACGTGCTAACATGTGGAGGGGTATGGGATCTGCAAGGAACTCTCAAATTACTCAGGAAAAGAAGTAACAATATGATGTGCATACCGCACATGTGGGAGGGCAGAGAGAGGCGGTGAGAGAGCACACACACGACACGCTGACCACCGGGGAGCCTGGGGAAGGGCATACAGGAGTTCTAGGCATTTGAGATTATTTCAAAGTATTTAGGTTGGTGCAAAAGTAATTGCAGTTTTTGTCATTTCAATGGCAGATGGCCTGGGCAGATGGGTGGTTGGTAGGCGAGGTATCGGAGACAGAGGTTTATGGAAAATAAAGAGATGTGCCAAGGCCGGGCGCGGAGACTCAGGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGCGAGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCGTCTCTACTCAAAACACAAAAATTAGCTGGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGGGAGAATCGCTTGAACCTGGGAGGTAGAGCTTGCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGTGACAAGAGCACAATTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGCAAGAGATGTGCTAAGGACCTAGTGTGATGGGAGAGAGGGTCGGGGAGTCGACGGGGCTGCTGCTGCAGTAGCTAACAATTGAGCGTCTGGAATGTGCTCCCACCCCACTGCCTGCAGGGTGCAGAGAGCTATGTTAGTACAGCCAGTCCAGAGTAGGAAAAGGCTCGTGGTCATGGTGGGTGCATGGGATGCCATGGAGACAGGGTAAGAGGTGTCTCCGGTCAGAACCTCCACCAAGCTCCAACTTGCCCAGCAGGATGGATGGCAAGCGGCGGCCAGGCCCAGGGCCCGGGGTGCCCCCAAAGCGGGCCCGTGGGGGCCTCTGGGATGATGATGATGCACCTCGGCCATCCCAATTCGAGGAGGACCTGGCACTGATGGAGGAGATGGAGGCAGAACACAGGCTGCAGGAGCAGGAGGAGGAGGAGCTGCAGTCAGTCCTGGAGGGGGTTGCAGACGGTAAGGCTTGGAGTTGGAGGTTCCTGCTGCCCAACCCATTGCCCCTGGTCTTGCCTTTGGTCCAAGAGTCAGCTGCAAAGCTGACCTGTGACCCCACTCTGGCCAATTTTGAATCCTACAAAGGACTGCCCTTCCACCCCGTGCAGCCTGTGTGGCCTACAGTGATTCTGGCCCTGACCCTTGACCCTCATTCTCTTCCAAGTTTCCTGCCTGACCCAGACCACCACCTCTGCCTGGCTCCTTTCAGAACCACATGCCATCCTGGCCGGGGAAGACCATGACTCCATGTACTCCACTTCCTTCCCTTCCCCACCAGGGCAGGTCCCACCATCAGCCATAGATCCTCGCTGGCTTCGGCCCACACCACCAGCGCTGGACCCCCAGACAGAGCCCCTCATCTTCCAACAGTTGGAGATTGACCATTATGTGGGTGAGTTTAGGGGTTATGGGTGAGTGCTGGGGCCCTGCGCTCCTGGGGCAGAGGCCGGGCCAGGTCAGCCCCTCTGGCCCTGTGCTCCTGGGGCAGAGGCCGGGCCAGGTCAGCCCCTCTGGCTCTGCCCCTCTGGTTGCCATAGAGCTGTAGTGACAGAACAGACCAGTGGGTGCCAGGGGTTGTGGAGTGCGAAGCGAAGGTGACACAGGGTCAGCTTGAGGGAGGTGCTTGGAGCGTTGATCTGTTTTGCATACGTAGTAGCTGCAGCCTGTGCAAGGACCTCTGTGCCTTAAAATTCATAACACCAGACACATAAACCAAAAGTCAATTTGACTTCTTTTTTTTGAGATGGAGTCTTGCCCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCACACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGCTTTTGCCAAGTTGGCTAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTTAGATTACAGGTGTGAGCCATTGTGCCAGCCCAATTTGACTTTTTAAAAGATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAAGATTTTCCTCTGTTGCCCAGGCTGGAGTGCACCTGGCCAATAATTTTTTTTTTTTTTTTTTTTTTTTTTAAGATGGAGTCTTGCTCCTGTCGCCCAGGCTGGAGTGCAGTGGCACACTCTTGGCTCACTATAACCTCCGCCTCCTGGGTTCAAGTGATCCTTCTTCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCGCCATCACGCCCGGCTAATTTTTATATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGGCTGGTTTCAAACTCCTAACCTCAGGTGATCTGCCGACCTTGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGTAACTGTGCCCCGCCTATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCCCTCTGTCACCCAGGCTGGAGAGCAGTGGCACAATCATGGTTCACTGTAACCTCAACCTCCAGGGCTCAAGTGATCCTCCCACCTCAGCCTCGGAGTAGCTAGGACTACAGGTGTGCACCACAATGTCTGGCTAACTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTTGCTGGGACTACAGGCACCCGCCCCAACTCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTTTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCTTGAGCCACCGCGCCCGGCCTGGCTAACTTTTAAAAATATACTTTTGGGCCCGGCATGGTGGCTCACTTTTGGAGGCTGAGGCAGGCTGATCACTTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATTCAAAAAATTAGCCAGGTGTGGTGGCATGGGCCTGTAATCTCAGCTGTTCAGGTGGCTGAGGCACAAGAATCCTTTCAACCTGGGAGGTGGTTGAAATATAAATATAAGATATATATATATGATATATTCTTTATGTATTAATTTATGTATAACATATATTATATATTAATATATTTTGTAGAGACAAATATATTTATTTGTACATATAATATGTGTGTGTATTTGTGTATATGTGTATATATATATATATATATATATATTTTTTTTTTTTTTTTN | benign | 308,510 |
Variant chromosome 19, position 50401932, gene POLD1 (DNA polymerase delta 1, catalytic subunit): benign or pathogenic? Disease(s)? | benign | GGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCACACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGCTTTTGCCAAGTTGGCTAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTTAGATTACAGGTGTGAGCCATTGTGCCAGCCCAATTTGACTTTTTAAAAGATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAAGATTTTCCTCTGTTGCCCAGGCTGGAGTGCACCTGGCCAATAATTTTTTTTTTTTTTTTTTTTTTTTTTAAGATGGAGTCTTGCTCCTGTCGCCCAGGCTGGAGTGCAGTGGCACACTCTTGGCTCACTATAACCTCCGCCTCCTGGGTTCAAGTGATCCTTCTTCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCGCCATCACGCCCGGCTAATTTTTATATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGGCTGGTTTCAAACTCCTAACCTCAGGTGATCTGCCGACCTTGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGTAACTGTGCCCCGCCTATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCCCTCTGTCACCCAGGCTGGAGAGCAGTGGCACAATCATGGTTCACTGTAACCTCAACCTCCAGGGCTCAAGTGATCCTCCCACCTCAGCCTCGGAGTAGCTAGGACTACAGGTGTGCACCACAATGTCTGGCTAACTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTTGCTGGGACTACAGGCACCCGCCCCAACTCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTTTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCTTGAGCCACCGCGCCCGGCCTGGCTAACTTTTAAAAATATACTTTTGGGCCCGGCATGGTGGCTCACTTTTGGAGGCTGAGGCAGGCTGATCACTTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATTCAAAAAATTAGCCAGGTGTGGTGGCATGGGCCTGTAATCTCAGCTGTTCAGGTGGCTGAGGCACAAGAATCCTTTCAACCTGGGAGGTGGTTGAAATATAAATATAAGATATATATATATGATATATTCTTTATGTATTAATTTATGTATAACATATATTATATATTAATATATTTTGTAGAGACAAATATATTTATTTGTACATATAATATGTGTGTGTATTTGTGTATATGTGTATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTGAGACTGGGTCTCGCTCTTTTGCCCAGGCTGGTCTCAAAGTCCTGGGCTCTAGCGATCCTCCCGCCTTGGCCTCACAAAGCACTGGAATCACAGGTGTGAGTCACTGTGCACGGCCAGTTGTTTTTATCTTGTAATAAAAAAGAAGGGCCTCCCTGTAGTTGTGCTGTGGAGAATGGATCCTGGGGGATGAGGCTGGAGATGGGAACCAGGGGGGAGGCTGAAATGGACACAGGGAACGGTACAGGGGCAGGAGTGCCCCAGGCTGCAGGCCCCAAGGTATTTCGAGGCTGTGGAGACACACCTTGGAGGACCCTGAGAGGCATGGCCGCTGTCTTACCCTGTGACCCCACAGGCCCAGCGCAGCCTGTGCCTGGGGGGCCCCCACCATCCCGCGGCTCCGTGCCTGTGCTCCGCGCCTTCGGGGTCACCGATGAGGGGTTCTCTGTCTGCTGCCACATCCACGGCTTCGCTCCCTACTTCTACACCCCAGCGCCCCCTGGTGAGTGGCCCCTACCCAGCCCCTCCCTGAGCCACTGGAGCCCCCTGCACCTCTGATCATCCCTCCCACACCAGGTTTCGGGCCCGAGCACATGGGTGACCTGCAACGGGAGCTGAACTTGGCCATCAGCCGGGACAGTCGCGGGGGGAGGGAGCTGACTGGGCCGGCCGTGCTGGCTGTGGAACTGTGCTCCCGAGAGAGTGAGTGCTCCCCCAGGATCAGCGGGTTGGAGGGTCCCCTCGGGAGGCCATTGGCTGGTCCCAGCTTCTTCCATCCACAGGCATGTTTGGGTACCACGGGCACGGCCCCTCCCCGTTCCTGCGCATCACCGTGGCGCTGCCGCGCCTCGTGGCCCCGGCCCGCCGTCTCCTGGAACAGGGCATCCGTGTGGCAGGCCTGGGCACGCCCAGCTTCGCGCCCTACGAGGCCAACGTCGACTTTGAGATCCGGTACGGCCTCTGCCTCACTTCTCCGGCCTCTATCCCCACCCTCGGGCAGCCCCTGTCCACTGACCCCCAGCCCCCTCCAGGTTCATGGTGGACACGGACATCGTCGGCTGCAACTGGCTGGAGCTCCCAGCTGGGAAATACGCCCTGAGGCTGAAGGAGAAGGTGCAGGGCTTCCCAGGGCAGGGCTGGGTGGGGAGCTGGTACCCTGCTGCCACCGCTGACCCACCCATGCCCACAGGCTACGCAGTGCCAGCTGGAGGCGGACGTGCTGTGGTCTGACGTGGTCAGTCACCCACCGGAAGGGCCATGGCAGCGCATTGCGCCCTTGCGCGTGCTCAGCTTCGATATCGAGTGCGCCGGCCGCAAAGGTCTGTCCCCGGGCCCGGGCTCCTGCCCGCCTCATTGATGTGCCAAGTCGGGGGTCGGAAAGGCAGGTCCGGTGGAGGGAATGGCAAGCATGAAGGTGCCGGGGCAGGAGCACCCCAGCCCATGTGGCCAGATGGAGTGAGCACAGAGGGTGTGGAGATGGCCTGGAGGTGAGAGCAGAGCAGGAGCCAGGGTGAGCCACGTAGGGCCGGCAGGCAGCGGGGACAGCCCCGGGGAGATGGCAGGTGCAGCCTCCCTGCTGTGTTGGGAGTGAGGGGCAGGAGTCAGGCCCCTGCATCCTCCTGCCTCGCAGGCATCTTCCCTGAGCCTGAGCGGGACCCTGTCATCCAGATCTGCTCGCTGGGCCTGCGCTGGGGGGAGCCGGAGCCCTTCCTACGCCTGGCGCTCACCCTGCGGCCCTGTGCCCCCATCCTGGGTGCCAAGGTGCAGAGCTACGAGAAGGAGGAGGACCTGCTGCAGGTAGCTCTCGCTCCACGCCCCACACCATTTCCCGGGGTCCCCGCCAGCCTCCGCGTCCTGAGCCATCAGCTCCTGGGTGCTGCGACGCCCATGTCTGTGGGTCTGGGTGGGTGTCTGTGGGTCTGGGTGGGCCCCTGTGCAATTAGGCTTGAGCACTTCCCCTCTGGGTTCTGCAGGATTTTCAGGGGTGGCTGGGGTTCTAGAACATTCTGGAAGTAGGGGAATCCGAGGCAGGGCAACCACCAGGGTGACCCAATGTGCTCCCACCCCCAGGCCTGGTCCACCTTCATCCGTATCATGGACCCCGACGTGATCACCGGTTACAACATCCAGAACTTCGACCTTCCGTACCTCATCTCTCGGGCCCAGACCCTCAAGGTGAGGGCTGGGCAGGTGGGAGGCTTCTCTCAGATGCCCCAGGTGTGGCCTCCGGGCCCTGGGCCTCCTTCCCACTCCCTCTCCACATGGCTTGGTGCATCTTGCTCTGTGTGCCTCAGCCGATTGCCTGCAGGGGCAGCCTAGGCCTGGTCCTGCCCTGCTCCAAGTCGAAAAAGTTACTGTGGCTTTTATCAGAGGCAAGGAGGGCGTTACGGTGGAGTAAGAGAAGGCTGTGCATTCAAGGTCGGCCTGAAGCTTGCAGGGGTTCAACAAGCCATGAAGCAGCCACTGAATCCCAGTCTTCCTTTAGGTTATATCAGCATAAGGAAAAGAATCATAATGGAGGAGGAGGGGGGAGTGTGTTGACTGATGGGGCAAATTC | GGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCACACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGCTTTTGCCAAGTTGGCTAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTTAGATTACAGGTGTGAGCCATTGTGCCAGCCCAATTTGACTTTTTAAAAGATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAAGATTTTCCTCTGTTGCCCAGGCTGGAGTGCACCTGGCCAATAATTTTTTTTTTTTTTTTTTTTTTTTTTAAGATGGAGTCTTGCTCCTGTCGCCCAGGCTGGAGTGCAGTGGCACACTCTTGGCTCACTATAACCTCCGCCTCCTGGGTTCAAGTGATCCTTCTTCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCGCCATCACGCCCGGCTAATTTTTATATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGGCTGGTTTCAAACTCCTAACCTCAGGTGATCTGCCGACCTTGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGTAACTGTGCCCCGCCTATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCCCTCTGTCACCCAGGCTGGAGAGCAGTGGCACAATCATGGTTCACTGTAACCTCAACCTCCAGGGCTCAAGTGATCCTCCCACCTCAGCCTCGGAGTAGCTAGGACTACAGGTGTGCACCACAATGTCTGGCTAACTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTTGCTGGGACTACAGGCACCCGCCCCAACTCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTTTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCTTGAGCCACCGCGCCCGGCCTGGCTAACTTTTAAAAATATACTTTTGGGCCCGGCATGGTGGCTCACTTTTGGAGGCTGAGGCAGGCTGATCACTTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATTCAAAAAATTAGCCAGGTGTGGTGGCATGGGCCTGTAATCTCAGCTGTTCAGGTGGCTGAGGCACAAGAATCCTTTCAACCTGGGAGGTGGTTGAAATATAAATATAAGATATATATATATGATATATTCTTTATGTATTAATTTATGTATAACATATATTATATATTAATATATTTTGTAGAGACAAATATATTTATTTGTACATATAATATGTGTGTGTATTTGTGTATATGTGTATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTGAGACTGGGTCTCGCTCTTTTGCCCAGGCTGGTCTCAAAGTCCTGGGCTCTAGCGATCCTCCCGCCTTGGCCTCACAAAGCACTGGAATCACAGGTGTGAGTCACTGTGCACGGCCAGTTGTTTTTATCTTGTAATAAAAAAGAAGGGCCTCCCTGTAGTTGTGCTGTGGAGAATGGATCCTGGGGGATGAGGCTGGAGATGGGAACCAGGGGGGAGGCTGAAATGGACACAGGGAACGGTACAGGGGCAGGAGTGCCCCAGGCTGCAGGCCCCAAGGTATTTCGAGGCTGTGGAGACACACCTTGGAGGACCCTGAGAGGCATGGCCGCTGTCTTACCCTGTGACCCCACAGGCCCAGCGCAGCCTGTGCCTGGGGGGCCCCCACCATCCCGCGGCTCCGTGCCTGTGCTCCGCGCCTTCGGGGTCACCGATGAGGGGTTCTCTGTCTGCTGCCACATCCACGGCTTCGCTCCCTACTTCTACACCCCAGCGCCCCCTGGTGAGTGTTCCCTACCCAGCCCCTCCCTGAGCCACTGGAGCCCCCTGCACCTCTGATCATCCCTCCCACACCAGGTTTCGGGCCCGAGCACATGGGTGACCTGCAACGGGAGCTGAACTTGGCCATCAGCCGGGACAGTCGCGGGGGGAGGGAGCTGACTGGGCCGGCCGTGCTGGCTGTGGAACTGTGCTCCCGAGAGAGTGAGTGCTCCCCCAGGATCAGCGGGTTGGAGGGTCCCCTCGGGAGGCCATTGGCTGGTCCCAGCTTCTTCCATCCACAGGCATGTTTGGGTACCACGGGCACGGCCCCTCCCCGTTCCTGCGCATCACCGTGGCGCTGCCGCGCCTCGTGGCCCCGGCCCGCCGTCTCCTGGAACAGGGCATCCGTGTGGCAGGCCTGGGCACGCCCAGCTTCGCGCCCTACGAGGCCAACGTCGACTTTGAGATCCGGTACGGCCTCTGCCTCACTTCTCCGGCCTCTATCCCCACCCTCGGGCAGCCCCTGTCCACTGACCCCCAGCCCCCTCCAGGTTCATGGTGGACACGGACATCGTCGGCTGCAACTGGCTGGAGCTCCCAGCTGGGAAATACGCCCTGAGGCTGAAGGAGAAGGTGCAGGGCTTCCCAGGGCAGGGCTGGGTGGGGAGCTGGTACCCTGCTGCCACCGCTGACCCACCCATGCCCACAGGCTACGCAGTGCCAGCTGGAGGCGGACGTGCTGTGGTCTGACGTGGTCAGTCACCCACCGGAAGGGCCATGGCAGCGCATTGCGCCCTTGCGCGTGCTCAGCTTCGATATCGAGTGCGCCGGCCGCAAAGGTCTGTCCCCGGGCCCGGGCTCCTGCCCGCCTCATTGATGTGCCAAGTCGGGGGTCGGAAAGGCAGGTCCGGTGGAGGGAATGGCAAGCATGAAGGTGCCGGGGCAGGAGCACCCCAGCCCATGTGGCCAGATGGAGTGAGCACAGAGGGTGTGGAGATGGCCTGGAGGTGAGAGCAGAGCAGGAGCCAGGGTGAGCCACGTAGGGCCGGCAGGCAGCGGGGACAGCCCCGGGGAGATGGCAGGTGCAGCCTCCCTGCTGTGTTGGGAGTGAGGGGCAGGAGTCAGGCCCCTGCATCCTCCTGCCTCGCAGGCATCTTCCCTGAGCCTGAGCGGGACCCTGTCATCCAGATCTGCTCGCTGGGCCTGCGCTGGGGGGAGCCGGAGCCCTTCCTACGCCTGGCGCTCACCCTGCGGCCCTGTGCCCCCATCCTGGGTGCCAAGGTGCAGAGCTACGAGAAGGAGGAGGACCTGCTGCAGGTAGCTCTCGCTCCACGCCCCACACCATTTCCCGGGGTCCCCGCCAGCCTCCGCGTCCTGAGCCATCAGCTCCTGGGTGCTGCGACGCCCATGTCTGTGGGTCTGGGTGGGTGTCTGTGGGTCTGGGTGGGCCCCTGTGCAATTAGGCTTGAGCACTTCCCCTCTGGGTTCTGCAGGATTTTCAGGGGTGGCTGGGGTTCTAGAACATTCTGGAAGTAGGGGAATCCGAGGCAGGGCAACCACCAGGGTGACCCAATGTGCTCCCACCCCCAGGCCTGGTCCACCTTCATCCGTATCATGGACCCCGACGTGATCACCGGTTACAACATCCAGAACTTCGACCTTCCGTACCTCATCTCTCGGGCCCAGACCCTCAAGGTGAGGGCTGGGCAGGTGGGAGGCTTCTCTCAGATGCCCCAGGTGTGGCCTCCGGGCCCTGGGCCTCCTTCCCACTCCCTCTCCACATGGCTTGGTGCATCTTGCTCTGTGTGCCTCAGCCGATTGCCTGCAGGGGCAGCCTAGGCCTGGTCCTGCCCTGCTCCAAGTCGAAAAAGTTACTGTGGCTTTTATCAGAGGCAAGGAGGGCGTTACGGTGGAGTAAGAGAAGGCTGTGCATTCAAGGTCGGCCTGAAGCTTGCAGGGGTTCAACAAGCCATGAAGCAGCCACTGAATCCCAGTCTTCCTTTAGGTTATATCAGCATAAGGAAAAGAATCATAATGGAGGAGGAGGGGGGAGTGTGTTGACTGATGGGGCAAATTC | benign | 308,586 |
Chromosome 19, position 50402154, gene POLD1 (DNA polymerase delta 1, catalytic subunit): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | TGCCAGCCCAATTTGACTTTTTAAAAGATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAAGATTTTCCTCTGTTGCCCAGGCTGGAGTGCACCTGGCCAATAATTTTTTTTTTTTTTTTTTTTTTTTTTAAGATGGAGTCTTGCTCCTGTCGCCCAGGCTGGAGTGCAGTGGCACACTCTTGGCTCACTATAACCTCCGCCTCCTGGGTTCAAGTGATCCTTCTTCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCGCCATCACGCCCGGCTAATTTTTATATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGGCTGGTTTCAAACTCCTAACCTCAGGTGATCTGCCGACCTTGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGTAACTGTGCCCCGCCTATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCCCTCTGTCACCCAGGCTGGAGAGCAGTGGCACAATCATGGTTCACTGTAACCTCAACCTCCAGGGCTCAAGTGATCCTCCCACCTCAGCCTCGGAGTAGCTAGGACTACAGGTGTGCACCACAATGTCTGGCTAACTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTTGCTGGGACTACAGGCACCCGCCCCAACTCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTTTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCTTGAGCCACCGCGCCCGGCCTGGCTAACTTTTAAAAATATACTTTTGGGCCCGGCATGGTGGCTCACTTTTGGAGGCTGAGGCAGGCTGATCACTTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATTCAAAAAATTAGCCAGGTGTGGTGGCATGGGCCTGTAATCTCAGCTGTTCAGGTGGCTGAGGCACAAGAATCCTTTCAACCTGGGAGGTGGTTGAAATATAAATATAAGATATATATATATGATATATTCTTTATGTATTAATTTATGTATAACATATATTATATATTAATATATTTTGTAGAGACAAATATATTTATTTGTACATATAATATGTGTGTGTATTTGTGTATATGTGTATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTGAGACTGGGTCTCGCTCTTTTGCCCAGGCTGGTCTCAAAGTCCTGGGCTCTAGCGATCCTCCCGCCTTGGCCTCACAAAGCACTGGAATCACAGGTGTGAGTCACTGTGCACGGCCAGTTGTTTTTATCTTGTAATAAAAAAGAAGGGCCTCCCTGTAGTTGTGCTGTGGAGAATGGATCCTGGGGGATGAGGCTGGAGATGGGAACCAGGGGGGAGGCTGAAATGGACACAGGGAACGGTACAGGGGCAGGAGTGCCCCAGGCTGCAGGCCCCAAGGTATTTCGAGGCTGTGGAGACACACCTTGGAGGACCCTGAGAGGCATGGCCGCTGTCTTACCCTGTGACCCCACAGGCCCAGCGCAGCCTGTGCCTGGGGGGCCCCCACCATCCCGCGGCTCCGTGCCTGTGCTCCGCGCCTTCGGGGTCACCGATGAGGGGTTCTCTGTCTGCTGCCACATCCACGGCTTCGCTCCCTACTTCTACACCCCAGCGCCCCCTGGTGAGTGGCCCCTACCCAGCCCCTCCCTGAGCCACTGGAGCCCCCTGCACCTCTGATCATCCCTCCCACACCAGGTTTCGGGCCCGAGCACATGGGTGACCTGCAACGGGAGCTGAACTTGGCCATCAGCCGGGACAGTCGCGGGGGGAGGGAGCTGACTGGGCCGGCCGTGCTGGCTGTGGAACTGTGCTCCCGAGAGAGTGAGTGCTCCCCCAGGATCAGCGGGTTGGAGGGTCCCCTCGGGAGGCCATTGGCTGGTCCCAGCTTCTTCCATCCACAGGCATGTTTGGGTACCACGGGCACGGCCCCTCCCCGTTCCTGCGCATCACCGTGGCGCTGCCGCGCCTCGTGGCCCCGGCCCGCCGTCTCCTGGAACAGGGCATCCGTGTGGCAGGCCTGGGCACGCCCAGCTTCGCGCCCTACGAGGCCAACGTCGACTTTGAGATCCGGTACGGCCTCTGCCTCACTTCTCCGGCCTCTATCCCCACCCTCGGGCAGCCCCTGTCCACTGACCCCCAGCCCCCTCCAGGTTCATGGTGGACACGGACATCGTCGGCTGCAACTGGCTGGAGCTCCCAGCTGGGAAATACGCCCTGAGGCTGAAGGAGAAGGTGCAGGGCTTCCCAGGGCAGGGCTGGGTGGGGAGCTGGTACCCTGCTGCCACCGCTGACCCACCCATGCCCACAGGCTACGCAGTGCCAGCTGGAGGCGGACGTGCTGTGGTCTGACGTGGTCAGTCACCCACCGGAAGGGCCATGGCAGCGCATTGCGCCCTTGCGCGTGCTCAGCTTCGATATCGAGTGCGCCGGCCGCAAAGGTCTGTCCCCGGGCCCGGGCTCCTGCCCGCCTCATTGATGTGCCAAGTCGGGGGTCGGAAAGGCAGGTCCGGTGGAGGGAATGGCAAGCATGAAGGTGCCGGGGCAGGAGCACCCCAGCCCATGTGGCCAGATGGAGTGAGCACAGAGGGTGTGGAGATGGCCTGGAGGTGAGAGCAGAGCAGGAGCCAGGGTGAGCCACGTAGGGCCGGCAGGCAGCGGGGACAGCCCCGGGGAGATGGCAGGTGCAGCCTCCCTGCTGTGTTGGGAGTGAGGGGCAGGAGTCAGGCCCCTGCATCCTCCTGCCTCGCAGGCATCTTCCCTGAGCCTGAGCGGGACCCTGTCATCCAGATCTGCTCGCTGGGCCTGCGCTGGGGGGAGCCGGAGCCCTTCCTACGCCTGGCGCTCACCCTGCGGCCCTGTGCCCCCATCCTGGGTGCCAAGGTGCAGAGCTACGAGAAGGAGGAGGACCTGCTGCAGGTAGCTCTCGCTCCACGCCCCACACCATTTCCCGGGGTCCCCGCCAGCCTCCGCGTCCTGAGCCATCAGCTCCTGGGTGCTGCGACGCCCATGTCTGTGGGTCTGGGTGGGTGTCTGTGGGTCTGGGTGGGCCCCTGTGCAATTAGGCTTGAGCACTTCCCCTCTGGGTTCTGCAGGATTTTCAGGGGTGGCTGGGGTTCTAGAACATTCTGGAAGTAGGGGAATCCGAGGCAGGGCAACCACCAGGGTGACCCAATGTGCTCCCACCCCCAGGCCTGGTCCACCTTCATCCGTATCATGGACCCCGACGTGATCACCGGTTACAACATCCAGAACTTCGACCTTCCGTACCTCATCTCTCGGGCCCAGACCCTCAAGGTGAGGGCTGGGCAGGTGGGAGGCTTCTCTCAGATGCCCCAGGTGTGGCCTCCGGGCCCTGGGCCTCCTTCCCACTCCCTCTCCACATGGCTTGGTGCATCTTGCTCTGTGTGCCTCAGCCGATTGCCTGCAGGGGCAGCCTAGGCCTGGTCCTGCCCTGCTCCAAGTCGAAAAAGTTACTGTGGCTTTTATCAGAGGCAAGGAGGGCGTTACGGTGGAGTAAGAGAAGGCTGTGCATTCAAGGTCGGCCTGAAGCTTGCAGGGGTTCAACAAGCCATGAAGCAGCCACTGAATCCCAGTCTTCCTTTAGGTTATATCAGCATAAGGAAAAGAATCATAATGGAGGAGGAGGGGGGAGTGTGTTGACTGATGGGGCAAATTCCGGATGCTTCTTGAGTCTGCATGTGTGTAAGGGTGGATTCCTCTGCCCGAGTTGCTGTAACAAAGAGCCACAGACCAGGTGGCTGAAAACAGCAAAAAGTCATTGTCTCACCGTCCTGAAGGCTGGAAAGTCCATGACCAAAGTGTCAGCGGGCCTGCTTCCTTCGGGGGCTGCAAGGGAGGACTGGTTCACGGCCTCTCTCCTTGGCTTGCAGACGGCCAT | TGCCAGCCCAATTTGACTTTTTAAAAGATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAAGATTTTCCTCTGTTGCCCAGGCTGGAGTGCACCTGGCCAATAATTTTTTTTTTTTTTTTTTTTTTTTTTAAGATGGAGTCTTGCTCCTGTCGCCCAGGCTGGAGTGCAGTGGCACACTCTTGGCTCACTATAACCTCCGCCTCCTGGGTTCAAGTGATCCTTCTTCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCGCCATCACGCCCGGCTAATTTTTATATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGGCTGGTTTCAAACTCCTAACCTCAGGTGATCTGCCGACCTTGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGTAACTGTGCCCCGCCTATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCCCTCTGTCACCCAGGCTGGAGAGCAGTGGCACAATCATGGTTCACTGTAACCTCAACCTCCAGGGCTCAAGTGATCCTCCCACCTCAGCCTCGGAGTAGCTAGGACTACAGGTGTGCACCACAATGTCTGGCTAACTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTTGCTGGGACTACAGGCACCCGCCCCAACTCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTTTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCTTGAGCCACCGCGCCCGGCCTGGCTAACTTTTAAAAATATACTTTTGGGCCCGGCATGGTGGCTCACTTTTGGAGGCTGAGGCAGGCTGATCACTTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATTCAAAAAATTAGCCAGGTGTGGTGGCATGGGCCTGTAATCTCAGCTGTTCAGGTGGCTGAGGCACAAGAATCCTTTCAACCTGGGAGGTGGTTGAAATATAAATATAAGATATATATATATGATATATTCTTTATGTATTAATTTATGTATAACATATATTATATATTAATATATTTTGTAGAGACAAATATATTTATTTGTACATATAATATGTGTGTGTATTTGTGTATATGTGTATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTGAGACTGGGTCTCGCTCTTTTGCCCAGGCTGGTCTCAAAGTCCTGGGCTCTAGCGATCCTCCCGCCTTGGCCTCACAAAGCACTGGAATCACAGGTGTGAGTCACTGTGCACGGCCAGTTGTTTTTATCTTGTAATAAAAAAGAAGGGCCTCCCTGTAGTTGTGCTGTGGAGAATGGATCCTGGGGGATGAGGCTGGAGATGGGAACCAGGGGGGAGGCTGAAATGGACACAGGGAACGGTACAGGGGCAGGAGTGCCCCAGGCTGCAGGCCCCAAGGTATTTCGAGGCTGTGGAGACACACCTTGGAGGACCCTGAGAGGCATGGCCGCTGTCTTACCCTGTGACCCCACAGGCCCAGCGCAGCCTGTGCCTGGGGGGCCCCCACCATCCCGCGGCTCCGTGCCTGTGCTCCGCGCCTTCGGGGTCACCGATGAGGGGTTCTCTGTCTGCTGCCACATCCACGGCTTCGCTCCCTACTTCTACACCCCAGCGCCCCCTGGTGAGTGGCCCCTACCCAGCCCCTCCCTGAGCCACTGGAGCCCCCTGCACCTCTGATCATCCCTCCCACACCAGGTTTCGGGCCCGAGCACATGGGTGACCTGCAACGGGAGCTGAACTTGGCCATCAGCCGGGACAGTCGCGGGGGGAGGGAGCTGACTGGGCCGGCCGTGCTGGCTGTGGAACTGTGCTCCCGAGAGAGTGAGTGCTCCCCCAGGATCAGCGGGTTGGGGGTCCCCTCGGGAGGCCATTGGCTGGTCCCAGCTTCTTCCATCCACAGGCATGTTTGGGTACCACGGGCACGGCCCCTCCCCGTTCCTGCGCATCACCGTGGCGCTGCCGCGCCTCGTGGCCCCGGCCCGCCGTCTCCTGGAACAGGGCATCCGTGTGGCAGGCCTGGGCACGCCCAGCTTCGCGCCCTACGAGGCCAACGTCGACTTTGAGATCCGGTACGGCCTCTGCCTCACTTCTCCGGCCTCTATCCCCACCCTCGGGCAGCCCCTGTCCACTGACCCCCAGCCCCCTCCAGGTTCATGGTGGACACGGACATCGTCGGCTGCAACTGGCTGGAGCTCCCAGCTGGGAAATACGCCCTGAGGCTGAAGGAGAAGGTGCAGGGCTTCCCAGGGCAGGGCTGGGTGGGGAGCTGGTACCCTGCTGCCACCGCTGACCCACCCATGCCCACAGGCTACGCAGTGCCAGCTGGAGGCGGACGTGCTGTGGTCTGACGTGGTCAGTCACCCACCGGAAGGGCCATGGCAGCGCATTGCGCCCTTGCGCGTGCTCAGCTTCGATATCGAGTGCGCCGGCCGCAAAGGTCTGTCCCCGGGCCCGGGCTCCTGCCCGCCTCATTGATGTGCCAAGTCGGGGGTCGGAAAGGCAGGTCCGGTGGAGGGAATGGCAAGCATGAAGGTGCCGGGGCAGGAGCACCCCAGCCCATGTGGCCAGATGGAGTGAGCACAGAGGGTGTGGAGATGGCCTGGAGGTGAGAGCAGAGCAGGAGCCAGGGTGAGCCACGTAGGGCCGGCAGGCAGCGGGGACAGCCCCGGGGAGATGGCAGGTGCAGCCTCCCTGCTGTGTTGGGAGTGAGGGGCAGGAGTCAGGCCCCTGCATCCTCCTGCCTCGCAGGCATCTTCCCTGAGCCTGAGCGGGACCCTGTCATCCAGATCTGCTCGCTGGGCCTGCGCTGGGGGGAGCCGGAGCCCTTCCTACGCCTGGCGCTCACCCTGCGGCCCTGTGCCCCCATCCTGGGTGCCAAGGTGCAGAGCTACGAGAAGGAGGAGGACCTGCTGCAGGTAGCTCTCGCTCCACGCCCCACACCATTTCCCGGGGTCCCCGCCAGCCTCCGCGTCCTGAGCCATCAGCTCCTGGGTGCTGCGACGCCCATGTCTGTGGGTCTGGGTGGGTGTCTGTGGGTCTGGGTGGGCCCCTGTGCAATTAGGCTTGAGCACTTCCCCTCTGGGTTCTGCAGGATTTTCAGGGGTGGCTGGGGTTCTAGAACATTCTGGAAGTAGGGGAATCCGAGGCAGGGCAACCACCAGGGTGACCCAATGTGCTCCCACCCCCAGGCCTGGTCCACCTTCATCCGTATCATGGACCCCGACGTGATCACCGGTTACAACATCCAGAACTTCGACCTTCCGTACCTCATCTCTCGGGCCCAGACCCTCAAGGTGAGGGCTGGGCAGGTGGGAGGCTTCTCTCAGATGCCCCAGGTGTGGCCTCCGGGCCCTGGGCCTCCTTCCCACTCCCTCTCCACATGGCTTGGTGCATCTTGCTCTGTGTGCCTCAGCCGATTGCCTGCAGGGGCAGCCTAGGCCTGGTCCTGCCCTGCTCCAAGTCGAAAAAGTTACTGTGGCTTTTATCAGAGGCAAGGAGGGCGTTACGGTGGAGTAAGAGAAGGCTGTGCATTCAAGGTCGGCCTGAAGCTTGCAGGGGTTCAACAAGCCATGAAGCAGCCACTGAATCCCAGTCTTCCTTTAGGTTATATCAGCATAAGGAAAAGAATCATAATGGAGGAGGAGGGGGGAGTGTGTTGACTGATGGGGCAAATTCCGGATGCTTCTTGAGTCTGCATGTGTGTAAGGGTGGATTCCTCTGCCCGAGTTGCTGTAACAAAGAGCCACAGACCAGGTGGCTGAAAACAGCAAAAAGTCATTGTCTCACCGTCCTGAAGGCTGGAAAGTCCATGACCAAAGTGTCAGCGGGCCTGCTTCCTTCGGGGGCTGCAAGGGAGGACTGGTTCACGGCCTCTCTCCTTGGCTTGCAGACGGCCATN | benign | 308,620 |
Considering the genetic mutation at chromosome 19, position 50402538, impacting POLD1 (DNA polymerase delta 1, catalytic subunit): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | GGATTACAGGAGTGAGTAACTGTGCCCCGCCTATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCCCTCTGTCACCCAGGCTGGAGAGCAGTGGCACAATCATGGTTCACTGTAACCTCAACCTCCAGGGCTCAAGTGATCCTCCCACCTCAGCCTCGGAGTAGCTAGGACTACAGGTGTGCACCACAATGTCTGGCTAACTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTTGCTGGGACTACAGGCACCCGCCCCAACTCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTTTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCTTGAGCCACCGCGCCCGGCCTGGCTAACTTTTAAAAATATACTTTTGGGCCCGGCATGGTGGCTCACTTTTGGAGGCTGAGGCAGGCTGATCACTTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATTCAAAAAATTAGCCAGGTGTGGTGGCATGGGCCTGTAATCTCAGCTGTTCAGGTGGCTGAGGCACAAGAATCCTTTCAACCTGGGAGGTGGTTGAAATATAAATATAAGATATATATATATGATATATTCTTTATGTATTAATTTATGTATAACATATATTATATATTAATATATTTTGTAGAGACAAATATATTTATTTGTACATATAATATGTGTGTGTATTTGTGTATATGTGTATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTGAGACTGGGTCTCGCTCTTTTGCCCAGGCTGGTCTCAAAGTCCTGGGCTCTAGCGATCCTCCCGCCTTGGCCTCACAAAGCACTGGAATCACAGGTGTGAGTCACTGTGCACGGCCAGTTGTTTTTATCTTGTAATAAAAAAGAAGGGCCTCCCTGTAGTTGTGCTGTGGAGAATGGATCCTGGGGGATGAGGCTGGAGATGGGAACCAGGGGGGAGGCTGAAATGGACACAGGGAACGGTACAGGGGCAGGAGTGCCCCAGGCTGCAGGCCCCAAGGTATTTCGAGGCTGTGGAGACACACCTTGGAGGACCCTGAGAGGCATGGCCGCTGTCTTACCCTGTGACCCCACAGGCCCAGCGCAGCCTGTGCCTGGGGGGCCCCCACCATCCCGCGGCTCCGTGCCTGTGCTCCGCGCCTTCGGGGTCACCGATGAGGGGTTCTCTGTCTGCTGCCACATCCACGGCTTCGCTCCCTACTTCTACACCCCAGCGCCCCCTGGTGAGTGGCCCCTACCCAGCCCCTCCCTGAGCCACTGGAGCCCCCTGCACCTCTGATCATCCCTCCCACACCAGGTTTCGGGCCCGAGCACATGGGTGACCTGCAACGGGAGCTGAACTTGGCCATCAGCCGGGACAGTCGCGGGGGGAGGGAGCTGACTGGGCCGGCCGTGCTGGCTGTGGAACTGTGCTCCCGAGAGAGTGAGTGCTCCCCCAGGATCAGCGGGTTGGAGGGTCCCCTCGGGAGGCCATTGGCTGGTCCCAGCTTCTTCCATCCACAGGCATGTTTGGGTACCACGGGCACGGCCCCTCCCCGTTCCTGCGCATCACCGTGGCGCTGCCGCGCCTCGTGGCCCCGGCCCGCCGTCTCCTGGAACAGGGCATCCGTGTGGCAGGCCTGGGCACGCCCAGCTTCGCGCCCTACGAGGCCAACGTCGACTTTGAGATCCGGTACGGCCTCTGCCTCACTTCTCCGGCCTCTATCCCCACCCTCGGGCAGCCCCTGTCCACTGACCCCCAGCCCCCTCCAGGTTCATGGTGGACACGGACATCGTCGGCTGCAACTGGCTGGAGCTCCCAGCTGGGAAATACGCCCTGAGGCTGAAGGAGAAGGTGCAGGGCTTCCCAGGGCAGGGCTGGGTGGGGAGCTGGTACCCTGCTGCCACCGCTGACCCACCCATGCCCACAGGCTACGCAGTGCCAGCTGGAGGCGGACGTGCTGTGGTCTGACGTGGTCAGTCACCCACCGGAAGGGCCATGGCAGCGCATTGCGCCCTTGCGCGTGCTCAGCTTCGATATCGAGTGCGCCGGCCGCAAAGGTCTGTCCCCGGGCCCGGGCTCCTGCCCGCCTCATTGATGTGCCAAGTCGGGGGTCGGAAAGGCAGGTCCGGTGGAGGGAATGGCAAGCATGAAGGTGCCGGGGCAGGAGCACCCCAGCCCATGTGGCCAGATGGAGTGAGCACAGAGGGTGTGGAGATGGCCTGGAGGTGAGAGCAGAGCAGGAGCCAGGGTGAGCCACGTAGGGCCGGCAGGCAGCGGGGACAGCCCCGGGGAGATGGCAGGTGCAGCCTCCCTGCTGTGTTGGGAGTGAGGGGCAGGAGTCAGGCCCCTGCATCCTCCTGCCTCGCAGGCATCTTCCCTGAGCCTGAGCGGGACCCTGTCATCCAGATCTGCTCGCTGGGCCTGCGCTGGGGGGAGCCGGAGCCCTTCCTACGCCTGGCGCTCACCCTGCGGCCCTGTGCCCCCATCCTGGGTGCCAAGGTGCAGAGCTACGAGAAGGAGGAGGACCTGCTGCAGGTAGCTCTCGCTCCACGCCCCACACCATTTCCCGGGGTCCCCGCCAGCCTCCGCGTCCTGAGCCATCAGCTCCTGGGTGCTGCGACGCCCATGTCTGTGGGTCTGGGTGGGTGTCTGTGGGTCTGGGTGGGCCCCTGTGCAATTAGGCTTGAGCACTTCCCCTCTGGGTTCTGCAGGATTTTCAGGGGTGGCTGGGGTTCTAGAACATTCTGGAAGTAGGGGAATCCGAGGCAGGGCAACCACCAGGGTGACCCAATGTGCTCCCACCCCCAGGCCTGGTCCACCTTCATCCGTATCATGGACCCCGACGTGATCACCGGTTACAACATCCAGAACTTCGACCTTCCGTACCTCATCTCTCGGGCCCAGACCCTCAAGGTGAGGGCTGGGCAGGTGGGAGGCTTCTCTCAGATGCCCCAGGTGTGGCCTCCGGGCCCTGGGCCTCCTTCCCACTCCCTCTCCACATGGCTTGGTGCATCTTGCTCTGTGTGCCTCAGCCGATTGCCTGCAGGGGCAGCCTAGGCCTGGTCCTGCCCTGCTCCAAGTCGAAAAAGTTACTGTGGCTTTTATCAGAGGCAAGGAGGGCGTTACGGTGGAGTAAGAGAAGGCTGTGCATTCAAGGTCGGCCTGAAGCTTGCAGGGGTTCAACAAGCCATGAAGCAGCCACTGAATCCCAGTCTTCCTTTAGGTTATATCAGCATAAGGAAAAGAATCATAATGGAGGAGGAGGGGGGAGTGTGTTGACTGATGGGGCAAATTCCGGATGCTTCTTGAGTCTGCATGTGTGTAAGGGTGGATTCCTCTGCCCGAGTTGCTGTAACAAAGAGCCACAGACCAGGTGGCTGAAAACAGCAAAAAGTCATTGTCTCACCGTCCTGAAGGCTGGAAAGTCCATGACCAAAGTGTCAGCGGGCCTGCTTCCTTCGGGGGCTGCAAGGGAGGACTGGTTCACGGCCTCTCTCCTTGGCTTGCAGACGGCCATCATCCCCCTGTGCCTCTTCACACCGTCTTCTCTCTGTGCGTGTCTGTTTCCACATGTCCTCCCTTTTTTTTTTTTTTCCAAGACAAAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAAACTCCGCCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCGAGGATGGTCTTGATCTCCTGACCTTGTGATCCGTCTGCCTCGGCCTCCCAAAGTGTTGGGATTATAGGCGTGAGCTACTGCACCCAACCCCTTTTCTCTTTCTTTTTTTTTTT | GGATTACAGGAGTGAGTAACTGTGCCCCGCCTATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCCCTCTGTCACCCAGGCTGGAGAGCAGTGGCACAATCATGGTTCACTGTAACCTCAACCTCCAGGGCTCAAGTGATCCTCCCACCTCAGCCTCGGAGTAGCTAGGACTACAGGTGTGCACCACAATGTCTGGCTAACTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTTGCTGGGACTACAGGCACCCGCCCCAACTCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTTTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCTTGAGCCACCGCGCCCGGCCTGGCTAACTTTTAAAAATATACTTTTGGGCCCGGCATGGTGGCTCACTTTTGGAGGCTGAGGCAGGCTGATCACTTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATTCAAAAAATTAGCCAGGTGTGGTGGCATGGGCCTGTAATCTCAGCTGTTCAGGTGGCTGAGGCACAAGAATCCTTTCAACCTGGGAGGTGGTTGAAATATAAATATAAGATATATATATATGATATATTCTTTATGTATTAATTTATGTATAACATATATTATATATTAATATATTTTGTAGAGACAAATATATTTATTTGTACATATAATATGTGTGTGTATTTGTGTATATGTGTATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTGAGACTGGGTCTCGCTCTTTTGCCCAGGCTGGTCTCAAAGTCCTGGGCTCTAGCGATCCTCCCGCCTTGGCCTCACAAAGCACTGGAATCACAGGTGTGAGTCACTGTGCACGGCCAGTTGTTTTTATCTTGTAATAAAAAAGAAGGGCCTCCCTGTAGTTGTGCTGTGGAGAATGGATCCTGGGGGATGAGGCTGGAGATGGGAACCAGGGGGGAGGCTGAAATGGACACAGGGAACGGTACAGGGGCAGGAGTGCCCCAGGCTGCAGGCCCCAAGGTATTTCGAGGCTGTGGAGACACACCTTGGAGGACCCTGAGAGGCATGGCCGCTGTCTTACCCTGTGACCCCACAGGCCCAGCGCAGCCTGTGCCTGGGGGGCCCCCACCATCCCGCGGCTCCGTGCCTGTGCTCCGCGCCTTCGGGGTCACCGATGAGGGGTTCTCTGTCTGCTGCCACATCCACGGCTTCGCTCCCTACTTCTACACCCCAGCGCCCCCTGGTGAGTGGCCCCTACCCAGCCCCTCCCTGAGCCACTGGAGCCCCCTGCACCTCTGATCATCCCTCCCACACCAGGTTTCGGGCCCGAGCACATGGGTGACCTGCAACGGGAGCTGAACTTGGCCATCAGCCGGGACAGTCGCGGGGGGAGGGAGCTGACTGGGCCGGCCGTGCTGGCTGTGGAACTGTGCTCCCGAGAGAGTGAGTGCTCCCCCAGGATCAGCGGGTTGGAGGGTCCCCTCGGGAGGCCATTGGCTGGTCCCAGCTTCTTCCATCCACAGGCATGTTTGGGTACCACGGGCACGGCCCCTCCCCGTTCCTGCGCATCACCGTGGCGCTGCCGCGCCTCGTGGCCCCGGCCCGCCGTCTCCTGGAACAGGGCATCCGTGTGGCAGGCCTGGGCACGCCCAGCTTCGCGCCCTACGAGGCCAACGTCGACTTTGAGATCCGGTACGGCCTCTGCCTCACTTCTCCGGCCTCTATCCCCACCCTCGGGCAGCCCCTGTCCACTGACCCCCAGCCCCCTCCAGGTTCATGGTGGACACGGACATCGTCGGCTGCAACTGGCTGGAGCTCCCAGCTGGGAAATACGCCCTGAGGCTGAAGGAGAAGGTGCAGGGCAGGGCTGGGTGGGGAGCTGGTACCCTGCTGCCACCGCTGACCCACCCATGCCCACAGGCTACGCAGTGCCAGCTGGAGGCGGACGTGCTGTGGTCTGACGTGGTCAGTCACCCACCGGAAGGGCCATGGCAGCGCATTGCGCCCTTGCGCGTGCTCAGCTTCGATATCGAGTGCGCCGGCCGCAAAGGTCTGTCCCCGGGCCCGGGCTCCTGCCCGCCTCATTGATGTGCCAAGTCGGGGGTCGGAAAGGCAGGTCCGGTGGAGGGAATGGCAAGCATGAAGGTGCCGGGGCAGGAGCACCCCAGCCCATGTGGCCAGATGGAGTGAGCACAGAGGGTGTGGAGATGGCCTGGAGGTGAGAGCAGAGCAGGAGCCAGGGTGAGCCACGTAGGGCCGGCAGGCAGCGGGGACAGCCCCGGGGAGATGGCAGGTGCAGCCTCCCTGCTGTGTTGGGAGTGAGGGGCAGGAGTCAGGCCCCTGCATCCTCCTGCCTCGCAGGCATCTTCCCTGAGCCTGAGCGGGACCCTGTCATCCAGATCTGCTCGCTGGGCCTGCGCTGGGGGGAGCCGGAGCCCTTCCTACGCCTGGCGCTCACCCTGCGGCCCTGTGCCCCCATCCTGGGTGCCAAGGTGCAGAGCTACGAGAAGGAGGAGGACCTGCTGCAGGTAGCTCTCGCTCCACGCCCCACACCATTTCCCGGGGTCCCCGCCAGCCTCCGCGTCCTGAGCCATCAGCTCCTGGGTGCTGCGACGCCCATGTCTGTGGGTCTGGGTGGGTGTCTGTGGGTCTGGGTGGGCCCCTGTGCAATTAGGCTTGAGCACTTCCCCTCTGGGTTCTGCAGGATTTTCAGGGGTGGCTGGGGTTCTAGAACATTCTGGAAGTAGGGGAATCCGAGGCAGGGCAACCACCAGGGTGACCCAATGTGCTCCCACCCCCAGGCCTGGTCCACCTTCATCCGTATCATGGACCCCGACGTGATCACCGGTTACAACATCCAGAACTTCGACCTTCCGTACCTCATCTCTCGGGCCCAGACCCTCAAGGTGAGGGCTGGGCAGGTGGGAGGCTTCTCTCAGATGCCCCAGGTGTGGCCTCCGGGCCCTGGGCCTCCTTCCCACTCCCTCTCCACATGGCTTGGTGCATCTTGCTCTGTGTGCCTCAGCCGATTGCCTGCAGGGGCAGCCTAGGCCTGGTCCTGCCCTGCTCCAAGTCGAAAAAGTTACTGTGGCTTTTATCAGAGGCAAGGAGGGCGTTACGGTGGAGTAAGAGAAGGCTGTGCATTCAAGGTCGGCCTGAAGCTTGCAGGGGTTCAACAAGCCATGAAGCAGCCACTGAATCCCAGTCTTCCTTTAGGTTATATCAGCATAAGGAAAAGAATCATAATGGAGGAGGAGGGGGGAGTGTGTTGACTGATGGGGCAAATTCCGGATGCTTCTTGAGTCTGCATGTGTGTAAGGGTGGATTCCTCTGCCCGAGTTGCTGTAACAAAGAGCCACAGACCAGGTGGCTGAAAACAGCAAAAAGTCATTGTCTCACCGTCCTGAAGGCTGGAAAGTCCATGACCAAAGTGTCAGCGGGCCTGCTTCCTTCGGGGGCTGCAAGGGAGGACTGGTTCACGGCCTCTCTCCTTGGCTTGCAGACGGCCATCATCCCCCTGTGCCTCTTCACACCGTCTTCTCTCTGTGCGTGTCTGTTTCCACATGTCCTCCCTTTTTTTTTTTTTTCCAAGACAAAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAAACTCCGCCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCGAGGATGGTCTTGATCTCCTGACCTTGTGATCCGTCTGCCTCGGCCTCCCAAAGTGTTGGGATTATAGGCGTGAGCTACTGCACCCAACCCCTTTTCTCTTTCTTTTTTTTTTTNNNNNNNNNN | benign | 308,691 |
Evaluate this variant at chromosome 19, position 50406169, gene POLD1 (DNA polymerase delta 1, catalytic subunit): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | AGTGTCAGCGGGCCTGCTTCCTTCGGGGGCTGCAAGGGAGGACTGGTTCACGGCCTCTCTCCTTGGCTTGCAGACGGCCATCATCCCCCTGTGCCTCTTCACACCGTCTTCTCTCTGTGCGTGTCTGTTTCCACATGTCCTCCCTTTTTTTTTTTTTTCCAAGACAAAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAAACTCCGCCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCGAGGATGGTCTTGATCTCCTGACCTTGTGATCCGTCTGCCTCGGCCTCCCAAAGTGTTGGGATTATAGGCGTGAGCTACTGCACCCAACCCCTTTTCTCTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTGTGTCGCCCAGGCTGGAGTGCGATGGCACGATCGAGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGAGCCACCACGCCCCGCAAATTTTTGCTTTTTTGTTATTGTTTCTTGAGATGGAATTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACCACAACCTCCGCCTCCCAGGGGGCGCTGGGGTGTAGAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCACCCGCTTCCATGCCCGACTAATTTTGTATTTTTAGTAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCCAATCTCAGGTGATCTGCCCACTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCTATTTTTGTTTTTGTTTTTGTTTTTTTTAGCAGAGACTAGGTTTCATCATGTTGGCCAGGCTGGTCTCCATCCTCACCTCAGGTGATCTGCCCACCTCAGCCTCTCAAAGTGCTGGGATTACAGGTGTGAGCCAGTGCACCTAGCCCACATGTCCTCTTTGTGTAGTGACACCGTCGTGAGGTGAGGGCCCACCCCAGTGACCTCATCTTCACTTGACCCCCTGCGAAGACATATTTCCAAATGAGGTTACATTCTGAGGTGCCGGGGGTTAGGGCTTCAACATCTTTTGGGAGAACATGGTTCAGCCCTTAATGAGATATATTGCCTTATTTTCCTGCTTTTCTCTATGTCTGGCCAGCTTGGTAATGGAAAAACAAAACAGGCTGGGTGTGGTGGCTCACGCCTCTAATCCCAGCACTTTGGGAGGATGAGGCGAGAGGATCGATGGAGCCCAGGAGTTCAAGACCAGCCAGGGCAACATAGCAAGACCCTGCCTCTATTAAAGAGAAAACAAGAAAAAATCCATTCTAAAATACAGAACAAACTCTTAGGACCCCCAGTGTATATTCCACAGCGTGGCGCTGATGCCCGGGCCATGGTACTCCTCCTCCCCTTCCCTGGGTGTCCCTCACCCTCTGCCCTGTCCCCAGCTCAGGCTTCTTCTGGCCTCAGTCTCCCCCAGGCTGGGCCCCAGCACCCTGCAAGGCCTCCTGCAGCCAGGCGCCCTCCAGCGCCCTCAGCATCCATCTCAGCCCAGCTCCACGCCGCCTCCTGCCTCTGCCCCCACCTGGCCGCCTGCTCACAGTGTCCCCAAATCTCTTCCTGTTTCCTGCCTAGGTACAGCCCGCAGACACTGGGCTCCATCCTTGGCCCCCAGTCCATCAGGGCCCCTGACTCTCGCTATCCCAGCCTTGGCTGCAGCTTAGTCCTTACTCCGGACTCCCTCCCCAGTCTCCAGCCACCCACACCCAGCCCCAGACCGTCTTTCTGCCCCCAGGGTTGCTCTCGACCCCCTAGGGTTGTTATAAGGATGTTGTGGTTGGTCTCAATCTCCGTTCTTCAGGCTTATGTGACGGGGACCCGCAGCCTGCTGCACACCCTGCCTCTCCTCCTCAGGTACAAACATTCCCTTTCCTGGGCCGTGTGGCCGGCCTTTGCTCCAACATCCGGGACTCTTCATTCCAGTCCAAGCAGACGGGCCGGCGGGACACCAAGGTTGTCAGCATGGTGGGCCGCGTGCAGATGGACATGCTGCAGGTATGGGCGGGAGGTGGGGTGTGTCCCTGTCCTTGGAAGGCCACTGCCCAGGCCCGCAGCCCACCAGCCCACCCACCCACCTAGGTGCTGCTGCGGGAGTACAAGCTCCGCTCCTACACGCTCAATGCCGTGAGCTTCCACTTCCTGGGCGAGCAGAAGGAGGACGTGCAGCACAGCATCATCACCGACCTGCAGGTGCCTGCTGCCTCCCTGACCTCTCACCCCAACCTCTGACCTCCACCTCACCCTTCCCCGGCCTCTGACCTCAACTTCACGCCCCCACGTCTGACCTCACTCTTTGACCTGCTGTTATGACCTGTGACCTTACCTGACGCCCACTTTTTCCTGACCTCTGACCCCAGATTTCTCTCCACTCCTGTGACCTCTGTCACTATGACCTTGTCTCTGCTTTCCTGGCCTGACCACAGGTCCACGGTGGCCTTCAGGCTGCTCCCTCCTCCTCCCTCTGGCCCTGTGGACTCCCTGGCCCCCAACCCTACCTCCATCCCCACCCAGACCCTGACGACTTGGAGGGCCCTCCTGCCCGCCTCACCTCCCAGGCCCTCCCCAGGCTACCTCACCCTGACCCCCACTTCCTTCTCCTGCTCCACCTCCCACCCCCAACCCCTGGTCCCTGACCCCATCCGTGCCCATCCCCAGAATGGGAACGACCAGACCCGCCGCCGCCTGGCTGTGTACTGCCTGAAGGATGCCTACCTGCCACTGCGGCTGCTGGAGCGGCTCATGGTGCTGGTGAACGCCGTGGAGATGGCGAGGGTCACTGGCGTGCCCCTCAGCTACCTGCTCAGTCGTGGCCAGCAGGTCAAGGTCGTATCCCAGCTGTTGCGGCAGGTCAGTAGCCGAGACTTGTCCTCGCCACCCCCCACCAGGCACGTCTGTGGCCCCCTCCAGGCAATGGCATCCTGGATGCACTTTTTCTCCCCACTCCCAATCCGCACGGCCCCACCTATACCCACTCCATTTCCCACCTTCTCCCCTCCCAGGCCATGCACGAGGGGCTGCTGATGCCCGTGGTGAAGTCAGAGGGCGGCGAGGACTACACGGGAGCCACTGTCATCGAGCCCCTCAAAGGGTGAGGCCCCAGGCTGGGTGCAGTTTTTACCTGTAATCTCTGGGAGGCTGAGGTGGGAGGATCACTTGAGCTCAGGAGTTTGAGACCAGCCAGGGCAACATAGCGAGGCCCCTGCTCCACAAAATTTTTTTATTTTTATTTATTTTTATTTTTATTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTTTGCCTCCCGGGTTCACGCCATTCTCCTACCTCAGTCTCCACAGCAGCTGGGACTACAGGCGCCCACCACCACGCCTGGCTAATTTTTTTTTTTTTTTTTTTTTTTGCATTTTTAGTAGGGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCGAAAAAATTTTTAAAAATTAGCCAGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGCTGGGAGGATGATGAGCCCAGGAGGTGGAGGCTGCAGTGAGCGATGATTGCGCCACTGCCCTCCAGCCTGGGCGACAGAGCAACACCCCGGCCCTAAAATAAATTAATAGGCCAGGCACGGTGGCTCACCCCTGTAATCAATCCCAGCACTTTGGGAGGTCAAGGCAGGCGGATCACAAGTTCAGGAGATTGGGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAGAAATTAGCTGGGCATGGTGGCGGGCGCCTGCAGT | AGTGTCAGCGGGCCTGCTTCCTTCGGGGGCTGCAAGGGAGGACTGGTTCACGGCCTCTCTCCTTGGCTTGCAGACGGCCATCATCCCCCTGTGCCTCTTCACACCGTCTTCTCTCTGTGCGTGTCTGTTTCCACATGTCCTCCCTTTTTTTTTTTTTTCCAAGACAAAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAAACTCCGCCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCGAGGATGGTCTTGATCTCCTGACCTTGTGATCCGTCTGCCTCGGCCTCCCAAAGTGTTGGGATTATAGGCGTGAGCTACTGCACCCAACCCCTTTTCTCTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTGTGTCGCCCAGGCTGGAGTGCGATGGCACGATCGAGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGAGCCACCACGCCCCGCAAATTTTTGCTTTTTTGTTATTGTTTCTTGAGATGGAATTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACCACAACCTCCGCCTCCCAGGGGGCGCTGGGGTGTAGAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCACCCGCTTCCATGCCCGACTAATTTTGTATTTTTAGTAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCCAATCTCAGGTGATCTGCCCACTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCTATTTTTGTTTTTGTTTTTGTTTTTTTTAGCAGAGACTAGGTTTCATCATGTTGGCCAGGCTGGTCTCCATCCTCACCTCAGGTGATCTGCCCACCTCAGCCTCTCAAAGTGCTGGGATTACAGGTGTGAGCCAGTGCACCTAGCCCACATGTCCTCTTTGTGTAGTGACACCGTCGTGAGGTGAGGGCCCACCCCAGTGACCTCATCTTCACTTGACCCCCTGCGAAGACATATTTCCAAATGAGGTTACATTCTGAGGTGCCGGGGGTTAGGGCTTCAACATCTTTTGGGAGAACATGGTTCAGCCCTTAATGAGATATATTGCCTTATTTTCCTGCTTTTCTCTATGTCTGGCCAGCTTGGTAATGGAAAAACAAAACAGGCTGGGTGTGGTGGCTCACGCCTCTAATCCCAGCACTTTGGGAGGATGAGGCGAGAGGATCGATGGAGCCCAGGAGTTCAAGACCAGCCAGGGCAACATAGCAAGACCCTGCCTCTATTAAAGAGAAAACAAGAAAAAATCCATTCTAAAATACAGAACAAACTCTTAGGACCCCCAGTGTATATTCCACAGCGTGGCGCTGATGCCCGGGCCATGGTACTCCTCCTCCCCTTCCCTGGGTGTCCCTCACCCTCTGCCCTGTCCCCAGCTCAGGCTTCTTCTGGCCTCAGTCTCCCCCAGGCTGGGCCCCAGCACCCTGCAAGGCCTCCTGCAGCCAGGCGCCCTCCAGCGCCCTCAGCATCCATCTCAGCCCAGCTCCACGCCGCCTCCTGCCTCTGCCCCCACCTGGCCGCCTGCTCACAGTGTCCCCAAATCTCTTCCTGTTTCCTGCCTAGGTACAGCCCGCAGACACTGGGCTCCATCCTTGGCCCCCAGTCCATCAGGGCCCCTGACTCTCGCTATCCCAGCCTTGGCTGCAGCTTAGTCCTTACTCCGGACTCCCTCCCCAGTCTCCAGCCACCCACACCCAGCCCCAGACCGTCTTTCTGCCCCCAGGGTTGCTCTCGACCCCCTAGGGTTGTTATAAGGATGTTGTGGTTGGTCTCAATCTCCGTTCTTCAGGCTTATGTGACGGGGACCCGCAGCCTGCTGCACACCCTGCCTTCTCCTCCTCAGGTACAAACATTCCCTTTCCTGGGCCGTGTGGCCGGCCTTTGCTCCAACATCCGGGACTCTTCATTCCAGTCCAAGCAGACGGGCCGGCGGGACACCAAGGTTGTCAGCATGGTGGGCCGCGTGCAGATGGACATGCTGCAGGTATGGGCGGGAGGTGGGGTGTGTCCCTGTCCTTGGAAGGCCACTGCCCAGGCCCGCAGCCCACCAGCCCACCCACCCACCTAGGTGCTGCTGCGGGAGTACAAGCTCCGCTCCTACACGCTCAATGCCGTGAGCTTCCACTTCCTGGGCGAGCAGAAGGAGGACGTGCAGCACAGCATCATCACCGACCTGCAGGTGCCTGCTGCCTCCCTGACCTCTCACCCCAACCTCTGACCTCCACCTCACCCTTCCCCGGCCTCTGACCTCAACTTCACGCCCCCACGTCTGACCTCACTCTTTGACCTGCTGTTATGACCTGTGACCTTACCTGACGCCCACTTTTTCCTGACCTCTGACCCCAGATTTCTCTCCACTCCTGTGACCTCTGTCACTATGACCTTGTCTCTGCTTTCCTGGCCTGACCACAGGTCCACGGTGGCCTTCAGGCTGCTCCCTCCTCCTCCCTCTGGCCCTGTGGACTCCCTGGCCCCCAACCCTACCTCCATCCCCACCCAGACCCTGACGACTTGGAGGGCCCTCCTGCCCGCCTCACCTCCCAGGCCCTCCCCAGGCTACCTCACCCTGACCCCCACTTCCTTCTCCTGCTCCACCTCCCACCCCCAACCCCTGGTCCCTGACCCCATCCGTGCCCATCCCCAGAATGGGAACGACCAGACCCGCCGCCGCCTGGCTGTGTACTGCCTGAAGGATGCCTACCTGCCACTGCGGCTGCTGGAGCGGCTCATGGTGCTGGTGAACGCCGTGGAGATGGCGAGGGTCACTGGCGTGCCCCTCAGCTACCTGCTCAGTCGTGGCCAGCAGGTCAAGGTCGTATCCCAGCTGTTGCGGCAGGTCAGTAGCCGAGACTTGTCCTCGCCACCCCCCACCAGGCACGTCTGTGGCCCCCTCCAGGCAATGGCATCCTGGATGCACTTTTTCTCCCCACTCCCAATCCGCACGGCCCCACCTATACCCACTCCATTTCCCACCTTCTCCCCTCCCAGGCCATGCACGAGGGGCTGCTGATGCCCGTGGTGAAGTCAGAGGGCGGCGAGGACTACACGGGAGCCACTGTCATCGAGCCCCTCAAAGGGTGAGGCCCCAGGCTGGGTGCAGTTTTTACCTGTAATCTCTGGGAGGCTGAGGTGGGAGGATCACTTGAGCTCAGGAGTTTGAGACCAGCCAGGGCAACATAGCGAGGCCCCTGCTCCACAAAATTTTTTTATTTTTATTTATTTTTATTTTTATTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTTTGCCTCCCGGGTTCACGCCATTCTCCTACCTCAGTCTCCACAGCAGCTGGGACTACAGGCGCCCACCACCACGCCTGGCTAATTTTTTTTTTTTTTTTTTTTTTTGCATTTTTAGTAGGGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCGAAAAAATTTTTAAAAATTAGCCAGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGCTGGGAGGATGATGAGCCCAGGAGGTGGAGGCTGCAGTGAGCGATGATTGCGCCACTGCCCTCCAGCCTGGGCGACAGAGCAACACCCCGGCCCTAAAATAAATTAATAGGCCAGGCACGGTGGCTCACCCCTGTAATCAATCCCAGCACTTTGGGAGGTCAAGGCAGGCGGATCACAAGTTCAGGAGATTGGGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAGAAATTAGCTGGGCATGGTGGCGGGCGCCTGCAG | benign | 308,814 |
Clinical impact (benign or pathogenic) of the variant at chromosome 19, location 50406389, gene POLD1 (DNA polymerase delta 1, catalytic subunit): what disease(s) if pathogenic? | benign | CAAACTCCGCCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCGAGGATGGTCTTGATCTCCTGACCTTGTGATCCGTCTGCCTCGGCCTCCCAAAGTGTTGGGATTATAGGCGTGAGCTACTGCACCCAACCCCTTTTCTCTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTGTGTCGCCCAGGCTGGAGTGCGATGGCACGATCGAGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGAGCCACCACGCCCCGCAAATTTTTGCTTTTTTGTTATTGTTTCTTGAGATGGAATTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACCACAACCTCCGCCTCCCAGGGGGCGCTGGGGTGTAGAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCACCCGCTTCCATGCCCGACTAATTTTGTATTTTTAGTAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCCAATCTCAGGTGATCTGCCCACTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCTATTTTTGTTTTTGTTTTTGTTTTTTTTAGCAGAGACTAGGTTTCATCATGTTGGCCAGGCTGGTCTCCATCCTCACCTCAGGTGATCTGCCCACCTCAGCCTCTCAAAGTGCTGGGATTACAGGTGTGAGCCAGTGCACCTAGCCCACATGTCCTCTTTGTGTAGTGACACCGTCGTGAGGTGAGGGCCCACCCCAGTGACCTCATCTTCACTTGACCCCCTGCGAAGACATATTTCCAAATGAGGTTACATTCTGAGGTGCCGGGGGTTAGGGCTTCAACATCTTTTGGGAGAACATGGTTCAGCCCTTAATGAGATATATTGCCTTATTTTCCTGCTTTTCTCTATGTCTGGCCAGCTTGGTAATGGAAAAACAAAACAGGCTGGGTGTGGTGGCTCACGCCTCTAATCCCAGCACTTTGGGAGGATGAGGCGAGAGGATCGATGGAGCCCAGGAGTTCAAGACCAGCCAGGGCAACATAGCAAGACCCTGCCTCTATTAAAGAGAAAACAAGAAAAAATCCATTCTAAAATACAGAACAAACTCTTAGGACCCCCAGTGTATATTCCACAGCGTGGCGCTGATGCCCGGGCCATGGTACTCCTCCTCCCCTTCCCTGGGTGTCCCTCACCCTCTGCCCTGTCCCCAGCTCAGGCTTCTTCTGGCCTCAGTCTCCCCCAGGCTGGGCCCCAGCACCCTGCAAGGCCTCCTGCAGCCAGGCGCCCTCCAGCGCCCTCAGCATCCATCTCAGCCCAGCTCCACGCCGCCTCCTGCCTCTGCCCCCACCTGGCCGCCTGCTCACAGTGTCCCCAAATCTCTTCCTGTTTCCTGCCTAGGTACAGCCCGCAGACACTGGGCTCCATCCTTGGCCCCCAGTCCATCAGGGCCCCTGACTCTCGCTATCCCAGCCTTGGCTGCAGCTTAGTCCTTACTCCGGACTCCCTCCCCAGTCTCCAGCCACCCACACCCAGCCCCAGACCGTCTTTCTGCCCCCAGGGTTGCTCTCGACCCCCTAGGGTTGTTATAAGGATGTTGTGGTTGGTCTCAATCTCCGTTCTTCAGGCTTATGTGACGGGGACCCGCAGCCTGCTGCACACCCTGCCTCTCCTCCTCAGGTACAAACATTCCCTTTCCTGGGCCGTGTGGCCGGCCTTTGCTCCAACATCCGGGACTCTTCATTCCAGTCCAAGCAGACGGGCCGGCGGGACACCAAGGTTGTCAGCATGGTGGGCCGCGTGCAGATGGACATGCTGCAGGTATGGGCGGGAGGTGGGGTGTGTCCCTGTCCTTGGAAGGCCACTGCCCAGGCCCGCAGCCCACCAGCCCACCCACCCACCTAGGTGCTGCTGCGGGAGTACAAGCTCCGCTCCTACACGCTCAATGCCGTGAGCTTCCACTTCCTGGGCGAGCAGAAGGAGGACGTGCAGCACAGCATCATCACCGACCTGCAGGTGCCTGCTGCCTCCCTGACCTCTCACCCCAACCTCTGACCTCCACCTCACCCTTCCCCGGCCTCTGACCTCAACTTCACGCCCCCACGTCTGACCTCACTCTTTGACCTGCTGTTATGACCTGTGACCTTACCTGACGCCCACTTTTTCCTGACCTCTGACCCCAGATTTCTCTCCACTCCTGTGACCTCTGTCACTATGACCTTGTCTCTGCTTTCCTGGCCTGACCACAGGTCCACGGTGGCCTTCAGGCTGCTCCCTCCTCCTCCCTCTGGCCCTGTGGACTCCCTGGCCCCCAACCCTACCTCCATCCCCACCCAGACCCTGACGACTTGGAGGGCCCTCCTGCCCGCCTCACCTCCCAGGCCCTCCCCAGGCTACCTCACCCTGACCCCCACTTCCTTCTCCTGCTCCACCTCCCACCCCCAACCCCTGGTCCCTGACCCCATCCGTGCCCATCCCCAGAATGGGAACGACCAGACCCGCCGCCGCCTGGCTGTGTACTGCCTGAAGGATGCCTACCTGCCACTGCGGCTGCTGGAGCGGCTCATGGTGCTGGTGAACGCCGTGGAGATGGCGAGGGTCACTGGCGTGCCCCTCAGCTACCTGCTCAGTCGTGGCCAGCAGGTCAAGGTCGTATCCCAGCTGTTGCGGCAGGTCAGTAGCCGAGACTTGTCCTCGCCACCCCCCACCAGGCACGTCTGTGGCCCCCTCCAGGCAATGGCATCCTGGATGCACTTTTTCTCCCCACTCCCAATCCGCACGGCCCCACCTATACCCACTCCATTTCCCACCTTCTCCCCTCCCAGGCCATGCACGAGGGGCTGCTGATGCCCGTGGTGAAGTCAGAGGGCGGCGAGGACTACACGGGAGCCACTGTCATCGAGCCCCTCAAAGGGTGAGGCCCCAGGCTGGGTGCAGTTTTTACCTGTAATCTCTGGGAGGCTGAGGTGGGAGGATCACTTGAGCTCAGGAGTTTGAGACCAGCCAGGGCAACATAGCGAGGCCCCTGCTCCACAAAATTTTTTTATTTTTATTTATTTTTATTTTTATTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTTTGCCTCCCGGGTTCACGCCATTCTCCTACCTCAGTCTCCACAGCAGCTGGGACTACAGGCGCCCACCACCACGCCTGGCTAATTTTTTTTTTTTTTTTTTTTTTTGCATTTTTAGTAGGGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCGAAAAAATTTTTAAAAATTAGCCAGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGCTGGGAGGATGATGAGCCCAGGAGGTGGAGGCTGCAGTGAGCGATGATTGCGCCACTGCCCTCCAGCCTGGGCGACAGAGCAACACCCCGGCCCTAAAATAAATTAATAGGCCAGGCACGGTGGCTCACCCCTGTAATCAATCCCAGCACTTTGGGAGGTCAAGGCAGGCGGATCACAAGTTCAGGAGATTGGGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAGAAATTAGCTGGGCATGGTGGCGGGCGCCTGCAGTGCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGTGACAAAGCGAGACTCCGTCTCAAAAAAAATAAAATAAAATAAAATAGTAGATTAATTATATATATTATTTTTCTTTTTCTTTTTCTTTTTTTGACACAGGGTCTCACTCTGTCACCCAGGGTG | CAAACTCCGCCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCGAGGATGGTCTTGATCTCCTGACCTTGTGATCCGTCTGCCTCGGCCTCCCAAAGTGTTGGGATTATAGGCGTGAGCTACTGCACCCAACCCCTTTTCTCTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTGTGTCGCCCAGGCTGGAGTGCGATGGCACGATCGAGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGAGCCACCACGCCCCGCAAATTTTTGCTTTTTTGTTATTGTTTCTTGAGATGGAATTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACCACAACCTCCGCCTCCCAGGGGGCGCTGGGGTGTAGAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCACCCGCTTCCATGCCCGACTAATTTTGTATTTTTAGTAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCCAATCTCAGGTGATCTGCCCACTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCTATTTTTGTTTTTGTTTTTGTTTTTTTTAGCAGAGACTAGGTTTCATCATGTTGGCCAGGCTGGTCTCCATCCTCACCTCAGGTGATCTGCCCACCTCAGCCTCTCAAAGTGCTGGGATTACAGGTGTGAGCCAGTGCACCTAGCCCACATGTCCTCTTTGTGTAGTGACACCGTCGTGAGGTGAGGGCCCACCCCAGTGACCTCATCTTCACTTGACCCCCTGCGAAGACATATTTCCAAATGAGGTTACATTCTGAGGTGCCGGGGGTTAGGGCTTCAACATCTTTTGGGAGAACATGGTTCAGCCCTTAATGAGATATATTGCCTTATTTTCCTGCTTTTCTCTATGTCTGGCCAGCTTGGTAATGGAAAAACAAAACAGGCTGGGTGTGGTGGCTCACGCCTCTAATCCCAGCACTTTGGGAGGATGAGGCGAGAGGATCGATGGAGCCCAGGAGTTCAAGACCAGCCAGGGCAACATAGCAAGACCCTGCCTCTATTAAAGAGAAAACAAGAAAAAATCCATTCTAAAATACAGAACAAACTCTTAGGACCCCCAGTGTATATTCCACAGCGTGGCGCTGATGCCCGGGCCATGGTACTCCTCCTCCCCTTCCCTGGGTGTCCCTCACCCTCTGCCCTGTCCCCAGCTCAGGCTTCTTCTGGCCTCAGTCTCCCCCAGGCTGGGCCCCAGCACCCTGCAAGGCCTCCTGCAGCCAGGCGCCCTCCAGCGCCCTCAGCATCCATCTCAGCCCAGCTCCACGCCGCCTCCTGCCTCTGCCCCCACCTGGCCGCCTGCTCACAGTGTCCCCAAATCTCTTCCTGTTTCCTGCCTAGGTACAGCCCGCAGACACTGGGCTCCATCCTTGGCCCCCAGTCCATCAGGGCCCCTGACTCTCGCTATCCCAGCCTTGGCTGCAGCTTAGTCCTTACTCCGGACTCCCTCCCCAGTCTCCAGCCACCCACACCCAGCCCCAGACCGTCTTTCTGCCCCCAGGGTTGCTCTCGACCCCCTAGGGTTGTTATAAGGATGTTGTGGTTGGTCTCAATCTCCGTTCTTCAGGCTTATGTGACGGGGACCCGCAGCCTGCTGCACACCCTGCCTCTCCTCCTCAGGTACAAACATTCCCTTTCCTGGGCCGTGTGGCCGGCCTTTGCTCCAACATCCGGGACTCTTCATTCCAGTCCAAGCAGACGGGCCGGCGGGACACCAAGGTTGTCAGCATGGTGGGCCGCGTGCAGATGGACATGCTGCAGGTATGGGCGGGAGGTGGGGTGTGTCCCTGTCCTTGGAAGGCCACTGCCCAGGCCCGCAGCCCACCAGCCCACCCACCCACCCACCTAGGTGCTGCTGCGGGAGTACAAGCTCCGCTCCTACACGCTCAATGCCGTGAGCTTCCACTTCCTGGGCGAGCAGAAGGAGGACGTGCAGCACAGCATCATCACCGACCTGCAGGTGCCTGCTGCCTCCCTGACCTCTCACCCCAACCTCTGACCTCCACCTCACCCTTCCCCGGCCTCTGACCTCAACTTCACGCCCCCACGTCTGACCTCACTCTTTGACCTGCTGTTATGACCTGTGACCTTACCTGACGCCCACTTTTTCCTGACCTCTGACCCCAGATTTCTCTCCACTCCTGTGACCTCTGTCACTATGACCTTGTCTCTGCTTTCCTGGCCTGACCACAGGTCCACGGTGGCCTTCAGGCTGCTCCCTCCTCCTCCCTCTGGCCCTGTGGACTCCCTGGCCCCCAACCCTACCTCCATCCCCACCCAGACCCTGACGACTTGGAGGGCCCTCCTGCCCGCCTCACCTCCCAGGCCCTCCCCAGGCTACCTCACCCTGACCCCCACTTCCTTCTCCTGCTCCACCTCCCACCCCCAACCCCTGGTCCCTGACCCCATCCGTGCCCATCCCCAGAATGGGAACGACCAGACCCGCCGCCGCCTGGCTGTGTACTGCCTGAAGGATGCCTACCTGCCACTGCGGCTGCTGGAGCGGCTCATGGTGCTGGTGAACGCCGTGGAGATGGCGAGGGTCACTGGCGTGCCCCTCAGCTACCTGCTCAGTCGTGGCCAGCAGGTCAAGGTCGTATCCCAGCTGTTGCGGCAGGTCAGTAGCCGAGACTTGTCCTCGCCACCCCCCACCAGGCACGTCTGTGGCCCCCTCCAGGCAATGGCATCCTGGATGCACTTTTTCTCCCCACTCCCAATCCGCACGGCCCCACCTATACCCACTCCATTTCCCACCTTCTCCCCTCCCAGGCCATGCACGAGGGGCTGCTGATGCCCGTGGTGAAGTCAGAGGGCGGCGAGGACTACACGGGAGCCACTGTCATCGAGCCCCTCAAAGGGTGAGGCCCCAGGCTGGGTGCAGTTTTTACCTGTAATCTCTGGGAGGCTGAGGTGGGAGGATCACTTGAGCTCAGGAGTTTGAGACCAGCCAGGGCAACATAGCGAGGCCCCTGCTCCACAAAATTTTTTTATTTTTATTTATTTTTATTTTTATTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTTTGCCTCCCGGGTTCACGCCATTCTCCTACCTCAGTCTCCACAGCAGCTGGGACTACAGGCGCCCACCACCACGCCTGGCTAATTTTTTTTTTTTTTTTTTTTTTTGCATTTTTAGTAGGGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCGAAAAAATTTTTAAAAATTAGCCAGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGCTGGGAGGATGATGAGCCCAGGAGGTGGAGGCTGCAGTGAGCGATGATTGCGCCACTGCCCTCCAGCCTGGGCGACAGAGCAACACCCCGGCCCTAAAATAAATTAATAGGCCAGGCACGGTGGCTCACCCCTGTAATCAATCCCAGCACTTTGGGAGGTCAAGGCAGGCGGATCACAAGTTCAGGAGATTGGGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAGAAATTAGCTGGGCATGGTGGCGGGCGCCTGCAGTGCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGTGACAAAGCGAGACTCCGTCTCAAAAAAAATAAAATAAAATAAAATAGTAGATTAATTATATATATTATTTTTCTTTTTCTTTTTCTTTTTTTGACACAGGGTCTCACTCTGTCACCCAG | benign | 308,846 |
Classify the chromosome 19 variant at position 50408690 affecting gene POLD1 (DNA polymerase delta 1, catalytic subunit) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | TGACCTTACCTGACGCCCACTTTTTCCTGACCTCTGACCCCAGATTTCTCTCCACTCCTGTGACCTCTGTCACTATGACCTTGTCTCTGCTTTCCTGGCCTGACCACAGGTCCACGGTGGCCTTCAGGCTGCTCCCTCCTCCTCCCTCTGGCCCTGTGGACTCCCTGGCCCCCAACCCTACCTCCATCCCCACCCAGACCCTGACGACTTGGAGGGCCCTCCTGCCCGCCTCACCTCCCAGGCCCTCCCCAGGCTACCTCACCCTGACCCCCACTTCCTTCTCCTGCTCCACCTCCCACCCCCAACCCCTGGTCCCTGACCCCATCCGTGCCCATCCCCAGAATGGGAACGACCAGACCCGCCGCCGCCTGGCTGTGTACTGCCTGAAGGATGCCTACCTGCCACTGCGGCTGCTGGAGCGGCTCATGGTGCTGGTGAACGCCGTGGAGATGGCGAGGGTCACTGGCGTGCCCCTCAGCTACCTGCTCAGTCGTGGCCAGCAGGTCAAGGTCGTATCCCAGCTGTTGCGGCAGGTCAGTAGCCGAGACTTGTCCTCGCCACCCCCCACCAGGCACGTCTGTGGCCCCCTCCAGGCAATGGCATCCTGGATGCACTTTTTCTCCCCACTCCCAATCCGCACGGCCCCACCTATACCCACTCCATTTCCCACCTTCTCCCCTCCCAGGCCATGCACGAGGGGCTGCTGATGCCCGTGGTGAAGTCAGAGGGCGGCGAGGACTACACGGGAGCCACTGTCATCGAGCCCCTCAAAGGGTGAGGCCCCAGGCTGGGTGCAGTTTTTACCTGTAATCTCTGGGAGGCTGAGGTGGGAGGATCACTTGAGCTCAGGAGTTTGAGACCAGCCAGGGCAACATAGCGAGGCCCCTGCTCCACAAAATTTTTTTATTTTTATTTATTTTTATTTTTATTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTTTGCCTCCCGGGTTCACGCCATTCTCCTACCTCAGTCTCCACAGCAGCTGGGACTACAGGCGCCCACCACCACGCCTGGCTAATTTTTTTTTTTTTTTTTTTTTTTGCATTTTTAGTAGGGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCGAAAAAATTTTTAAAAATTAGCCAGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGCTGGGAGGATGATGAGCCCAGGAGGTGGAGGCTGCAGTGAGCGATGATTGCGCCACTGCCCTCCAGCCTGGGCGACAGAGCAACACCCCGGCCCTAAAATAAATTAATAGGCCAGGCACGGTGGCTCACCCCTGTAATCAATCCCAGCACTTTGGGAGGTCAAGGCAGGCGGATCACAAGTTCAGGAGATTGGGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAGAAATTAGCTGGGCATGGTGGCGGGCGCCTGCAGTGCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGTGACAAAGCGAGACTCCGTCTCAAAAAAAATAAAATAAAATAAAATAGTAGATTAATTATATATATTATTTTTCTTTTTCTTTTTCTTTTTTTGACACAGGGTCTCACTCTGTCACCCAGGGTGGAGTGCGGTGGCATGATCTTGGCTTACTCCACCTCCTAGGCTCAAGCAATCCTCCTGCCTCAGGCCCCTGAGTAGCTGGGACCACAGGCGTGCACCACCACACCTGGCTAATTTTTAAAATTTTTTTGTAGAGATAGGGTTTTGCCATGTTGCCCAGGCTGATCTGAAACTCCTGAGTTCAAGCGATCCTCCTGCCTCAGCCTCCCAATGTGCTGGGATTGCAGGAGCGAGCACTGCTCCCAGCCAATGAATGATTTTTTTTTTTTAAAGGGTGAGGCCACAAGACAGGGCGGGGGCGGCATGGGAACTCCTAGCCCTGACTCCCGGCCGCGGCTGCTCCCCTCCCAGGTACTACGACGTCCCCATCGCCACCCTGGACTTCTCCTCGCTGTACCCGTCCATCATGATGGCCCACAACCTGTGTTACACCACGCTCCTTCGGCCCGGGACTGCACAGAAACTGGGGTATAGTGCCCAATTCAGCATGTGTCCCCCGAGGCCCATCTGGGCCTTCCCTTGGGGGGCTCAGTCTGGTGGGGGGCATAGGCACAGGCCCAGAGATAGTAGGGAGTGGAGGGGTGCTTGAGGGGCCTGCGTGTGCTCATGGCCAAGGCCAGGACCGTAGGGCAGAGGTGGGCTGGAGCAGGAGGGTGGCCGGCAGTCACCCCAACATCTTCCAACCCAGCCTGACTGAGGATCAGTTCATCAGGACCCCCACCGGGGACGAGTTTGTGAAGACCTCAGTGCGGAAGGGGCTGCTGCCCCAGATCCTGGAGAACCTGCTCAGTGCCCGGAAGAGGTGAGCCCTGGAGATCGCCTGCTTGGAGCTCAGACCTGTTGGGGCCTCTGGGCAATCCCTGTCCCTCACTGGGACACCCCAGGGCTGCCCAGCCACCCTGCCCTCAGCTGTGCGTGAATTAGCACAAGGCATCCCCTCCTGGCAGCTTCCTTTTGCCCCCTTGGCCAGAAGCTTCTGTGCAGTGCACAGTACGCCCAACCGTACATGGCACTCACTTCCAGAAAGGAGCCCTGACCAATGCCCAGGTGCCGCCTGAGTGTGCTTTCCCCGTGTTCCCTCGCAGGGCCAAGGCCGAGCTGGCCAAGGAGACAGACCCCCTCCGGCGCCAGGTCCTGGATGGACGGCAGCTGGCGCTGAAGGTGAGCGCCAACTCCGTATACGGCTTCACTGGCGCCCAGGTGGGCAAGTTGCCGTGCCTGGAGATCTCACAGGTGGGCACTCGGGCCCCTGGAAGGCAACTGGGGGCAGGTGGGCCCCCTGTGTAGGAGACCAGGGCTCCATGTGGGGGACCTGTATCCAGAGGACTGGGCACCCCAACTCACTGGCCTTCTAGAGAGAGGATGCCAATGTGGCTTGAGCAATTGGTCCATTCCTTCACTCAGCAAATGCCTACTGAGCACACACTGTGGTCAGGGCTCACTCTGTGCCCTGGGGATACAGAGGGGAACAAAATGGATGAGAGCTCCTGTCCCTGTCATCTTGCAGCCCAGTGGGGACACTGACAGGTCTGTGTAAACGTGTTTAGGACACAAGTGGCGCTACGAGCTTTGCAGCCGGATAAAGCAGGAGGTGCGGACTGTCGGGGAGTGATGGGGCTGGGCGGGACTCACCCCTCTCAATAGGCGACGCTCACACAGAGGCCAAGGGACGTGGGGAGGGAAGCCATTCACCGTCCCCACGGCAGCGTCCCGGTCTGCCTACCCACGGCAGCTCTGCTGCTTGAACAGAAAAACAGATTCTTTGAAACCACAGAGGGCCTGAGTTTCCGAGATTGCCAAGCTGGGGTCAGTGCCCCAGCTCCTGGCATATGAGGGCCTCGGAAGGGTCTTCCTGTCCAGCCTTCTCCCCTGGGACTTGAGTCTTGGCCCATTCCAGGCCAGTAGTTGTGCTGCTCTGCTTGGTTACCTCTAGCCACGGGGAGCTCCCTCTCTGGCTGGGCACTGCGCCACTTTTCACAGGGCTCTGGGTGGAAGGCTTGGATGAATTCTCAGTGGGTGGGGCCTTTGCACACACCCACCCACCCGCAGTTCTGGGGGTCCCAAAGACCACTTAGGTTCAGTGATTCACTAGAAGTACTCAGAGAGCAGAAAAGCTGGTTCTCATGGTTATGATTTAATACAGCAAAAGGACACAGATTAAACTCAGCAAAAGAAAGAGGTGCACAGGGCAGGGTATAGGAGGGACCAGGCGTGTCTTCCAGTTGTGCTCTCCCAGTAGAGTTGCCAGGCTGGCCCTCCTTCCTCCCAGTTTTGATGCGTGCCTGCACACATGCAGCATTGCCA | TGACCTTACCTGACGCCCACTTTTTCCTGACCTCTGACCCCAGATTTCTCTCCACTCCTGTGACCTCTGTCACTATGACCTTGTCTCTGCTTTCCTGGCCTGACCACAGGTCCACGGTGGCCTTCAGGCTGCTCCCTCCTCCTCCCTCTGGCCCTGTGGACTCCCTGGCCCCCAACCCTACCTCCATCCCCACCCAGACCCTGACGACTTGGAGGGCCCTCCTGCCCGCCTCACCTCCCAGGCCCTCCCCAGGCTACCTCACCCTGACCCCCACTTCCTTCTCCTGCTCCACCTCCCACCCCCAACCCCTGGTCCCTGACCCCATCCGTGCCCATCCCCAGAATGGGAACGACCAGACCCGCCGCCGCCTGGCTGTGTACTGCCTGAAGGATGCCTACCTGCCACTGCGGCTGCTGGAGCGGCTCATGGTGCTGGTGAACGCCGTGGAGATGGCGAGGGTCACTGGCGTGCCCCTCAGCTACCTGCTCAGTCGTGGCCAGCAGGTCAAGGTCGTATCCCAGCTGTTGCGGCAGGTCAGTAGCCGAGACTTGTCCTCGCCACCCCCCACCAGGCACGTCTGTGGCCCCCTCCAGGCAATGGCATCCTGGATGCACTTTTTCTCCCCACTCCCAATCCGCACGGCCCCACCTATACCCACTCCATTTCCCACCTTCTCCCCTCCCAGGCCATGCACGAGGGGCTGCTGATGCCCGTGGTGAAGTCAGAGGGCGGCGAGGACTACACGGGAGCCACTGTCATCGAGCCCCTCAAAGGGTGAGGCCCCAGGCTGGGTGCAGTTTTTACCTGTAATCTCTGGGAGGCTGAGGTGGGAGGATCACTTGAGCTCAGGAGTTTGAGACCAGCCAGGGCAACATAGCGAGGCCCCTGCTCCACAAAATTTTTTTATTTTTATTTATTTTTATTTTTATTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTTTGCCTCCCGGGTTCACGCCATTCTCCTACCTCAGTCTCCACAGCAGCTGGGACTACAGGCGCCCACCACCACGCCTGGCTAATTTTTTTTTTTTTTTTTTTTTTTGCATTTTTAGTAGGGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCGAAAAAATTTTTAAAAATTAGCCAGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGCTGGGAGGATGATGAGCCCAGGAGGTGGAGGCTGCAGTGAGCGATGATTGCGCCACTGCCCTCCAGCCTGGGCGACAGAGCAACACCCCGGCCCTAAAATAAATTAATAGGCCAGGCACGGTGGCTCACCCCTGTAATCAATCCCAGCACTTTGGGAGGTCAAGGCAGGCGGATCACAAGTTCAGGAGATTGGGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAGAAATTAGCTGGGCATGGTGGCGGGCGCCTGCAGTGCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGTGACAAAGCGAGACTCCGTCTCAAAAAAAATAAAATAAAATAAAATAGTAGATTAATTATATATATTATTTTTCTTTTTCTTTTTCTTTTTTTGACACAGGGTCTCACTCTGTCACCCAGGGTGGAGTGCGGTGGCATGATCTTGGCTTACTCCACCTCCTAGGCTCAAGCAATCCTCCTGCCTCAGGCCCCTGAGTAGCTGGGACCACAGGCGTGCACCACCACACCTGGCTAATTTTTAAAATTTTTTTGTAGAGATAGGGTTTTGCCATGTTGCCCAGGCTGATCTGAAACTCCTGAGTTCAAGCGATCCTCCTGCCTCAGCCTCCCAATGTGCTGGGATTGCAGGAGCGAGCACTGCTCCCAGCCAATGAATGATTTTTTTTTTTAAAGGGTGAGGCCACAAGACAGGGCGGGGGCGGCATGGGAACTCCTAGCCCTGACTCCCGGCCGCGGCTGCTCCCCTCCCAGGTACTACGACGTCCCCATCGCCACCCTGGACTTCTCCTCGCTGTACCCGTCCATCATGATGGCCCACAACCTGTGTTACACCACGCTCCTTCGGCCCGGGACTGCACAGAAACTGGGGTATAGTGCCCAATTCAGCATGTGTCCCCCGAGGCCCATCTGGGCCTTCCCTTGGGGGGCTCAGTCTGGTGGGGGGCATAGGCACAGGCCCAGAGATAGTAGGGAGTGGAGGGGTGCTTGAGGGGCCTGCGTGTGCTCATGGCCAAGGCCAGGACCGTAGGGCAGAGGTGGGCTGGAGCAGGAGGGTGGCCGGCAGTCACCCCAACATCTTCCAACCCAGCCTGACTGAGGATCAGTTCATCAGGACCCCCACCGGGGACGAGTTTGTGAAGACCTCAGTGCGGAAGGGGCTGCTGCCCCAGATCCTGGAGAACCTGCTCAGTGCCCGGAAGAGGTGAGCCCTGGAGATCGCCTGCTTGGAGCTCAGACCTGTTGGGGCCTCTGGGCAATCCCTGTCCCTCACTGGGACACCCCAGGGCTGCCCAGCCACCCTGCCCTCAGCTGTGCGTGAATTAGCACAAGGCATCCCCTCCTGGCAGCTTCCTTTTGCCCCCTTGGCCAGAAGCTTCTGTGCAGTGCACAGTACGCCCAACCGTACATGGCACTCACTTCCAGAAAGGAGCCCTGACCAATGCCCAGGTGCCGCCTGAGTGTGCTTTCCCCGTGTTCCCTCGCAGGGCCAAGGCCGAGCTGGCCAAGGAGACAGACCCCCTCCGGCGCCAGGTCCTGGATGGACGGCAGCTGGCGCTGAAGGTGAGCGCCAACTCCGTATACGGCTTCACTGGCGCCCAGGTGGGCAAGTTGCCGTGCCTGGAGATCTCACAGGTGGGCACTCGGGCCCCTGGAAGGCAACTGGGGGCAGGTGGGCCCCCTGTGTAGGAGACCAGGGCTCCATGTGGGGGACCTGTATCCAGAGGACTGGGCACCCCAACTCACTGGCCTTCTAGAGAGAGGATGCCAATGTGGCTTGAGCAATTGGTCCATTCCTTCACTCAGCAAATGCCTACTGAGCACACACTGTGGTCAGGGCTCACTCTGTGCCCTGGGGATACAGAGGGGAACAAAATGGATGAGAGCTCCTGTCCCTGTCATCTTGCAGCCCAGTGGGGACACTGACAGGTCTGTGTAAACGTGTTTAGGACACAAGTGGCGCTACGAGCTTTGCAGCCGGATAAAGCAGGAGGTGCGGACTGTCGGGGAGTGATGGGGCTGGGCGGGACTCACCCCTCTCAATAGGCGACGCTCACACAGAGGCCAAGGGACGTGGGGAGGGAAGCCATTCACCGTCCCCACGGCAGCGTCCCGGTCTGCCTACCCACGGCAGCTCTGCTGCTTGAACAGAAAAACAGATTCTTTGAAACCACAGAGGGCCTGAGTTTCCGAGATTGCCAAGCTGGGGTCAGTGCCCCAGCTCCTGGCATATGAGGGCCTCGGAAGGGTCTTCCTGTCCAGCCTTCTCCCCTGGGACTTGAGTCTTGGCCCATTCCAGGCCAGTAGTTGTGCTGCTCTGCTTGGTTACCTCTAGCCACGGGGAGCTCCCTCTCTGGCTGGGCACTGCGCCACTTTTCACAGGGCTCTGGGTGGAAGGCTTGGATGAATTCTCAGTGGGTGGGGCCTTTGCACACACCCACCCACCCGCAGTTCTGGGGGTCCCAAAGACCACTTAGGTTCAGTGATTCACTAGAAGTACTCAGAGAGCAGAAAAGCTGGTTCTCATGGTTATGATTTAATACAGCAAAAGGACACAGATTAAACTCAGCAAAAGAAAGAGGTGCACAGGGCAGGGTATAGGAGGGACCAGGCGTGTCTTCCAGTTGTGCTCTCCCAGTAGAGTTGCCAGGCTGGCCCTCCTTCCTCCCAGTTTTGATGCGTGCCTGCACACATGCAGCATTGCCAN | benign | 308,961 |
Benign or pathogenic: chromosome 19, position 50408817, gene POLD1 (DNA polymerase delta 1, catalytic subunit) variant? Disease(s) if pathogenic? | pathogenic; ['Colorectal_cancer,_susceptibility_to,_10', 'Hereditary_cancer-predisposing_syndrome', 'Mandibular_hypoplasia-deafness-progeroid_syndrome', 'POLD1-related_disorder'] | GCTGCTCCCTCCTCCTCCCTCTGGCCCTGTGGACTCCCTGGCCCCCAACCCTACCTCCATCCCCACCCAGACCCTGACGACTTGGAGGGCCCTCCTGCCCGCCTCACCTCCCAGGCCCTCCCCAGGCTACCTCACCCTGACCCCCACTTCCTTCTCCTGCTCCACCTCCCACCCCCAACCCCTGGTCCCTGACCCCATCCGTGCCCATCCCCAGAATGGGAACGACCAGACCCGCCGCCGCCTGGCTGTGTACTGCCTGAAGGATGCCTACCTGCCACTGCGGCTGCTGGAGCGGCTCATGGTGCTGGTGAACGCCGTGGAGATGGCGAGGGTCACTGGCGTGCCCCTCAGCTACCTGCTCAGTCGTGGCCAGCAGGTCAAGGTCGTATCCCAGCTGTTGCGGCAGGTCAGTAGCCGAGACTTGTCCTCGCCACCCCCCACCAGGCACGTCTGTGGCCCCCTCCAGGCAATGGCATCCTGGATGCACTTTTTCTCCCCACTCCCAATCCGCACGGCCCCACCTATACCCACTCCATTTCCCACCTTCTCCCCTCCCAGGCCATGCACGAGGGGCTGCTGATGCCCGTGGTGAAGTCAGAGGGCGGCGAGGACTACACGGGAGCCACTGTCATCGAGCCCCTCAAAGGGTGAGGCCCCAGGCTGGGTGCAGTTTTTACCTGTAATCTCTGGGAGGCTGAGGTGGGAGGATCACTTGAGCTCAGGAGTTTGAGACCAGCCAGGGCAACATAGCGAGGCCCCTGCTCCACAAAATTTTTTTATTTTTATTTATTTTTATTTTTATTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTTTGCCTCCCGGGTTCACGCCATTCTCCTACCTCAGTCTCCACAGCAGCTGGGACTACAGGCGCCCACCACCACGCCTGGCTAATTTTTTTTTTTTTTTTTTTTTTTGCATTTTTAGTAGGGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCGAAAAAATTTTTAAAAATTAGCCAGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGCTGGGAGGATGATGAGCCCAGGAGGTGGAGGCTGCAGTGAGCGATGATTGCGCCACTGCCCTCCAGCCTGGGCGACAGAGCAACACCCCGGCCCTAAAATAAATTAATAGGCCAGGCACGGTGGCTCACCCCTGTAATCAATCCCAGCACTTTGGGAGGTCAAGGCAGGCGGATCACAAGTTCAGGAGATTGGGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAGAAATTAGCTGGGCATGGTGGCGGGCGCCTGCAGTGCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGTGACAAAGCGAGACTCCGTCTCAAAAAAAATAAAATAAAATAAAATAGTAGATTAATTATATATATTATTTTTCTTTTTCTTTTTCTTTTTTTGACACAGGGTCTCACTCTGTCACCCAGGGTGGAGTGCGGTGGCATGATCTTGGCTTACTCCACCTCCTAGGCTCAAGCAATCCTCCTGCCTCAGGCCCCTGAGTAGCTGGGACCACAGGCGTGCACCACCACACCTGGCTAATTTTTAAAATTTTTTTGTAGAGATAGGGTTTTGCCATGTTGCCCAGGCTGATCTGAAACTCCTGAGTTCAAGCGATCCTCCTGCCTCAGCCTCCCAATGTGCTGGGATTGCAGGAGCGAGCACTGCTCCCAGCCAATGAATGATTTTTTTTTTTTAAAGGGTGAGGCCACAAGACAGGGCGGGGGCGGCATGGGAACTCCTAGCCCTGACTCCCGGCCGCGGCTGCTCCCCTCCCAGGTACTACGACGTCCCCATCGCCACCCTGGACTTCTCCTCGCTGTACCCGTCCATCATGATGGCCCACAACCTGTGTTACACCACGCTCCTTCGGCCCGGGACTGCACAGAAACTGGGGTATAGTGCCCAATTCAGCATGTGTCCCCCGAGGCCCATCTGGGCCTTCCCTTGGGGGGCTCAGTCTGGTGGGGGGCATAGGCACAGGCCCAGAGATAGTAGGGAGTGGAGGGGTGCTTGAGGGGCCTGCGTGTGCTCATGGCCAAGGCCAGGACCGTAGGGCAGAGGTGGGCTGGAGCAGGAGGGTGGCCGGCAGTCACCCCAACATCTTCCAACCCAGCCTGACTGAGGATCAGTTCATCAGGACCCCCACCGGGGACGAGTTTGTGAAGACCTCAGTGCGGAAGGGGCTGCTGCCCCAGATCCTGGAGAACCTGCTCAGTGCCCGGAAGAGGTGAGCCCTGGAGATCGCCTGCTTGGAGCTCAGACCTGTTGGGGCCTCTGGGCAATCCCTGTCCCTCACTGGGACACCCCAGGGCTGCCCAGCCACCCTGCCCTCAGCTGTGCGTGAATTAGCACAAGGCATCCCCTCCTGGCAGCTTCCTTTTGCCCCCTTGGCCAGAAGCTTCTGTGCAGTGCACAGTACGCCCAACCGTACATGGCACTCACTTCCAGAAAGGAGCCCTGACCAATGCCCAGGTGCCGCCTGAGTGTGCTTTCCCCGTGTTCCCTCGCAGGGCCAAGGCCGAGCTGGCCAAGGAGACAGACCCCCTCCGGCGCCAGGTCCTGGATGGACGGCAGCTGGCGCTGAAGGTGAGCGCCAACTCCGTATACGGCTTCACTGGCGCCCAGGTGGGCAAGTTGCCGTGCCTGGAGATCTCACAGGTGGGCACTCGGGCCCCTGGAAGGCAACTGGGGGCAGGTGGGCCCCCTGTGTAGGAGACCAGGGCTCCATGTGGGGGACCTGTATCCAGAGGACTGGGCACCCCAACTCACTGGCCTTCTAGAGAGAGGATGCCAATGTGGCTTGAGCAATTGGTCCATTCCTTCACTCAGCAAATGCCTACTGAGCACACACTGTGGTCAGGGCTCACTCTGTGCCCTGGGGATACAGAGGGGAACAAAATGGATGAGAGCTCCTGTCCCTGTCATCTTGCAGCCCAGTGGGGACACTGACAGGTCTGTGTAAACGTGTTTAGGACACAAGTGGCGCTACGAGCTTTGCAGCCGGATAAAGCAGGAGGTGCGGACTGTCGGGGAGTGATGGGGCTGGGCGGGACTCACCCCTCTCAATAGGCGACGCTCACACAGAGGCCAAGGGACGTGGGGAGGGAAGCCATTCACCGTCCCCACGGCAGCGTCCCGGTCTGCCTACCCACGGCAGCTCTGCTGCTTGAACAGAAAAACAGATTCTTTGAAACCACAGAGGGCCTGAGTTTCCGAGATTGCCAAGCTGGGGTCAGTGCCCCAGCTCCTGGCATATGAGGGCCTCGGAAGGGTCTTCCTGTCCAGCCTTCTCCCCTGGGACTTGAGTCTTGGCCCATTCCAGGCCAGTAGTTGTGCTGCTCTGCTTGGTTACCTCTAGCCACGGGGAGCTCCCTCTCTGGCTGGGCACTGCGCCACTTTTCACAGGGCTCTGGGTGGAAGGCTTGGATGAATTCTCAGTGGGTGGGGCCTTTGCACACACCCACCCACCCGCAGTTCTGGGGGTCCCAAAGACCACTTAGGTTCAGTGATTCACTAGAAGTACTCAGAGAGCAGAAAAGCTGGTTCTCATGGTTATGATTTAATACAGCAAAAGGACACAGATTAAACTCAGCAAAAGAAAGAGGTGCACAGGGCAGGGTATAGGAGGGACCAGGCGTGTCTTCCAGTTGTGCTCTCCCAGTAGAGTTGCCAGGCTGGCCCTCCTTCCTCCCAGTTTTGATGCGTGCCTGCACACATGCAGCATTGCCAACCAGAGGCTCTCACCCAAGCTTTGGGGTCCAGGGTTTTTCTTGGGTGTCAGTCCTATAGGCATGGAGCACCCTGTGACTGGCCTTAGTGACTCCATCATCCCCAGGCCCCTCAGCAACCCCCAGAG | GCTGCTCCCTCCTCCTCCCTCTGGCCCTGTGGACTCCCTGGCCCCCAACCCTACCTCCATCCCCACCCAGACCCTGACGACTTGGAGGGCCCTCCTGCCCGCCTCACCTCCCAGGCCCTCCCCAGGCTACCTCACCCTGACCCCCACTTCCTTCTCCTGCTCCACCTCCCACCCCCAACCCCTGGTCCCTGACCCCATCCGTGCCCATCCCCAGAATGGGAACGACCAGACCCGCCGCCGCCTGGCTGTGTACTGCCTGAAGGATGCCTACCTGCCACTGCGGCTGCTGGAGCGGCTCATGGTGCTGGTGAACGCCGTGGAGATGGCGAGGGTCACTGGCGTGCCCCTCAGCTACCTGCTCAGTCGTGGCCAGCAGGTCAAGGTCGTATCCCAGCTGTTGCGGCAGGTCAGTAGCCGAGACTTGTCCTCGCCACCCCCCACCAGGCACGTCTGTGGCCCCCTCCAGGCAATGGCATCCTGGATGCACTTTTTCTCCCCACTCCCAATCCGCACGGCCCCACCTATACCCACTCCATTTCCCACCTTCTCCCCTCCCAGGCCATGCACGAGGGGCTGCTGATGCCCGTGGTGAAGTCAGAGGGCGGCGAGGACTACACGGGAGCCACTGTCATCGAGCCCCTCAAAGGGTGAGGCCCCAGGCTGGGTGCAGTTTTTACCTGTAATCTCTGGGAGGCTGAGGTGGGAGGATCACTTGAGCTCAGGAGTTTGAGACCAGCCAGGGCAACATAGCGAGGCCCCTGCTCCACAAAATTTTTTTATTTTTATTTATTTTTATTTTTATTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTTTGCCTCCCGGGTTCACGCCATTCTCCTACCTCAGTCTCCACAGCAGCTGGGACTACAGGCGCCCACCACCACGCCTGGCTAATTTTTTTTTTTTTTTTTTTTTTTGCATTTTTAGTAGGGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCGAAAAAATTTTTAAAAATTAGCCAGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGCTGGGAGGATGATGAGCCCAGGAGGTGGAGGCTGCAGTGAGCGATGATTGCGCCACTGCCCTCCAGCCTGGGCGACAGAGCAACACCCCGGCCCTAAAATAAATTAATAGGCCAGGCACGGTGGCTCACCCCTGTAATCAATCCCAGCACTTTGGGAGGTCAAGGCAGGCGGATCACAAGTTCAGGAGATTGGGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAGAAATTAGCTGGGCATGGTGGCGGGCGCCTGCAGTGCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGTGACAAAGCGAGACTCCGTCTCAAAAAAAATAAAATAAAATAAAATAGTAGATTAATTATATATATTATTTTTCTTTTTCTTTTTCTTTTTTTGACACAGGGTCTCACTCTGTCACCCAGGGTGGAGTGCGGTGGCATGATCTTGGCTTACTCCACCTCCTAGGCTCAAGCAATCCTCCTGCCTCAGGCCCCTGAGTAGCTGGGACCACAGGCGTGCACCACCACACCTGGCTAATTTTTAAAATTTTTTTGTAGAGATAGGGTTTTGCCATGTTGCCCAGGCTGATCTGAAACTCCTGAGTTCAAGCGATCCTCCTGCCTCAGCCTCCCAATGTGCTGGGATTGCAGGAGCGAGCACTGCTCCCAGCCAATGAATGATTTTTTTTTTTTAAAGGGTGAGGCCACAAGACAGGGCGGGGGCGGCATGGGAACTCCTAGCCCTGACTCCCGGCCGCGGCTGCTCCCCTCCCAGGTACTACGACGTCCCCATCGCCACCCTGGACTTCTCGCTGTACCCGTCCATCATGATGGCCCACAACCTGTGTTACACCACGCTCCTTCGGCCCGGGACTGCACAGAAACTGGGGTATAGTGCCCAATTCAGCATGTGTCCCCCGAGGCCCATCTGGGCCTTCCCTTGGGGGGCTCAGTCTGGTGGGGGGCATAGGCACAGGCCCAGAGATAGTAGGGAGTGGAGGGGTGCTTGAGGGGCCTGCGTGTGCTCATGGCCAAGGCCAGGACCGTAGGGCAGAGGTGGGCTGGAGCAGGAGGGTGGCCGGCAGTCACCCCAACATCTTCCAACCCAGCCTGACTGAGGATCAGTTCATCAGGACCCCCACCGGGGACGAGTTTGTGAAGACCTCAGTGCGGAAGGGGCTGCTGCCCCAGATCCTGGAGAACCTGCTCAGTGCCCGGAAGAGGTGAGCCCTGGAGATCGCCTGCTTGGAGCTCAGACCTGTTGGGGCCTCTGGGCAATCCCTGTCCCTCACTGGGACACCCCAGGGCTGCCCAGCCACCCTGCCCTCAGCTGTGCGTGAATTAGCACAAGGCATCCCCTCCTGGCAGCTTCCTTTTGCCCCCTTGGCCAGAAGCTTCTGTGCAGTGCACAGTACGCCCAACCGTACATGGCACTCACTTCCAGAAAGGAGCCCTGACCAATGCCCAGGTGCCGCCTGAGTGTGCTTTCCCCGTGTTCCCTCGCAGGGCCAAGGCCGAGCTGGCCAAGGAGACAGACCCCCTCCGGCGCCAGGTCCTGGATGGACGGCAGCTGGCGCTGAAGGTGAGCGCCAACTCCGTATACGGCTTCACTGGCGCCCAGGTGGGCAAGTTGCCGTGCCTGGAGATCTCACAGGTGGGCACTCGGGCCCCTGGAAGGCAACTGGGGGCAGGTGGGCCCCCTGTGTAGGAGACCAGGGCTCCATGTGGGGGACCTGTATCCAGAGGACTGGGCACCCCAACTCACTGGCCTTCTAGAGAGAGGATGCCAATGTGGCTTGAGCAATTGGTCCATTCCTTCACTCAGCAAATGCCTACTGAGCACACACTGTGGTCAGGGCTCACTCTGTGCCCTGGGGATACAGAGGGGAACAAAATGGATGAGAGCTCCTGTCCCTGTCATCTTGCAGCCCAGTGGGGACACTGACAGGTCTGTGTAAACGTGTTTAGGACACAAGTGGCGCTACGAGCTTTGCAGCCGGATAAAGCAGGAGGTGCGGACTGTCGGGGAGTGATGGGGCTGGGCGGGACTCACCCCTCTCAATAGGCGACGCTCACACAGAGGCCAAGGGACGTGGGGAGGGAAGCCATTCACCGTCCCCACGGCAGCGTCCCGGTCTGCCTACCCACGGCAGCTCTGCTGCTTGAACAGAAAAACAGATTCTTTGAAACCACAGAGGGCCTGAGTTTCCGAGATTGCCAAGCTGGGGTCAGTGCCCCAGCTCCTGGCATATGAGGGCCTCGGAAGGGTCTTCCTGTCCAGCCTTCTCCCCTGGGACTTGAGTCTTGGCCCATTCCAGGCCAGTAGTTGTGCTGCTCTGCTTGGTTACCTCTAGCCACGGGGAGCTCCCTCTCTGGCTGGGCACTGCGCCACTTTTCACAGGGCTCTGGGTGGAAGGCTTGGATGAATTCTCAGTGGGTGGGGCCTTTGCACACACCCACCCACCCGCAGTTCTGGGGGTCCCAAAGACCACTTAGGTTCAGTGATTCACTAGAAGTACTCAGAGAGCAGAAAAGCTGGTTCTCATGGTTATGATTTAATACAGCAAAAGGACACAGATTAAACTCAGCAAAAGAAAGAGGTGCACAGGGCAGGGTATAGGAGGGACCAGGCGTGTCTTCCAGTTGTGCTCTCCCAGTAGAGTTGCCAGGCTGGCCCTCCTTCCTCCCAGTTTTGATGCGTGCCTGCACACATGCAGCATTGCCAACCAGAGGCTCTCACCCAAGCTTTGGGGTCCAGGGTTTTTCTTGGGTGTCAGTCCTATAGGCATGGAGCACCCTGTGACTGGCCTTAGTGACTCCATCATCCCCAGGCCCCTCAGCAACCCCCAGAGNNN | pathogenic | 308,976 |
For chromosome 19, position 50409679, gene POLD1 (DNA polymerase delta 1, catalytic subunit): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | TCACTGCAAGCTTTGCCTCCCGGGTTCACGCCATTCTCCTACCTCAGTCTCCACAGCAGCTGGGACTACAGGCGCCCACCACCACGCCTGGCTAATTTTTTTTTTTTTTTTTTTTTTTGCATTTTTAGTAGGGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCGAAAAAATTTTTAAAAATTAGCCAGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGCTGGGAGGATGATGAGCCCAGGAGGTGGAGGCTGCAGTGAGCGATGATTGCGCCACTGCCCTCCAGCCTGGGCGACAGAGCAACACCCCGGCCCTAAAATAAATTAATAGGCCAGGCACGGTGGCTCACCCCTGTAATCAATCCCAGCACTTTGGGAGGTCAAGGCAGGCGGATCACAAGTTCAGGAGATTGGGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAGAAATTAGCTGGGCATGGTGGCGGGCGCCTGCAGTGCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGTGACAAAGCGAGACTCCGTCTCAAAAAAAATAAAATAAAATAAAATAGTAGATTAATTATATATATTATTTTTCTTTTTCTTTTTCTTTTTTTGACACAGGGTCTCACTCTGTCACCCAGGGTGGAGTGCGGTGGCATGATCTTGGCTTACTCCACCTCCTAGGCTCAAGCAATCCTCCTGCCTCAGGCCCCTGAGTAGCTGGGACCACAGGCGTGCACCACCACACCTGGCTAATTTTTAAAATTTTTTTGTAGAGATAGGGTTTTGCCATGTTGCCCAGGCTGATCTGAAACTCCTGAGTTCAAGCGATCCTCCTGCCTCAGCCTCCCAATGTGCTGGGATTGCAGGAGCGAGCACTGCTCCCAGCCAATGAATGATTTTTTTTTTTTAAAGGGTGAGGCCACAAGACAGGGCGGGGGCGGCATGGGAACTCCTAGCCCTGACTCCCGGCCGCGGCTGCTCCCCTCCCAGGTACTACGACGTCCCCATCGCCACCCTGGACTTCTCCTCGCTGTACCCGTCCATCATGATGGCCCACAACCTGTGTTACACCACGCTCCTTCGGCCCGGGACTGCACAGAAACTGGGGTATAGTGCCCAATTCAGCATGTGTCCCCCGAGGCCCATCTGGGCCTTCCCTTGGGGGGCTCAGTCTGGTGGGGGGCATAGGCACAGGCCCAGAGATAGTAGGGAGTGGAGGGGTGCTTGAGGGGCCTGCGTGTGCTCATGGCCAAGGCCAGGACCGTAGGGCAGAGGTGGGCTGGAGCAGGAGGGTGGCCGGCAGTCACCCCAACATCTTCCAACCCAGCCTGACTGAGGATCAGTTCATCAGGACCCCCACCGGGGACGAGTTTGTGAAGACCTCAGTGCGGAAGGGGCTGCTGCCCCAGATCCTGGAGAACCTGCTCAGTGCCCGGAAGAGGTGAGCCCTGGAGATCGCCTGCTTGGAGCTCAGACCTGTTGGGGCCTCTGGGCAATCCCTGTCCCTCACTGGGACACCCCAGGGCTGCCCAGCCACCCTGCCCTCAGCTGTGCGTGAATTAGCACAAGGCATCCCCTCCTGGCAGCTTCCTTTTGCCCCCTTGGCCAGAAGCTTCTGTGCAGTGCACAGTACGCCCAACCGTACATGGCACTCACTTCCAGAAAGGAGCCCTGACCAATGCCCAGGTGCCGCCTGAGTGTGCTTTCCCCGTGTTCCCTCGCAGGGCCAAGGCCGAGCTGGCCAAGGAGACAGACCCCCTCCGGCGCCAGGTCCTGGATGGACGGCAGCTGGCGCTGAAGGTGAGCGCCAACTCCGTATACGGCTTCACTGGCGCCCAGGTGGGCAAGTTGCCGTGCCTGGAGATCTCACAGGTGGGCACTCGGGCCCCTGGAAGGCAACTGGGGGCAGGTGGGCCCCCTGTGTAGGAGACCAGGGCTCCATGTGGGGGACCTGTATCCAGAGGACTGGGCACCCCAACTCACTGGCCTTCTAGAGAGAGGATGCCAATGTGGCTTGAGCAATTGGTCCATTCCTTCACTCAGCAAATGCCTACTGAGCACACACTGTGGTCAGGGCTCACTCTGTGCCCTGGGGATACAGAGGGGAACAAAATGGATGAGAGCTCCTGTCCCTGTCATCTTGCAGCCCAGTGGGGACACTGACAGGTCTGTGTAAACGTGTTTAGGACACAAGTGGCGCTACGAGCTTTGCAGCCGGATAAAGCAGGAGGTGCGGACTGTCGGGGAGTGATGGGGCTGGGCGGGACTCACCCCTCTCAATAGGCGACGCTCACACAGAGGCCAAGGGACGTGGGGAGGGAAGCCATTCACCGTCCCCACGGCAGCGTCCCGGTCTGCCTACCCACGGCAGCTCTGCTGCTTGAACAGAAAAACAGATTCTTTGAAACCACAGAGGGCCTGAGTTTCCGAGATTGCCAAGCTGGGGTCAGTGCCCCAGCTCCTGGCATATGAGGGCCTCGGAAGGGTCTTCCTGTCCAGCCTTCTCCCCTGGGACTTGAGTCTTGGCCCATTCCAGGCCAGTAGTTGTGCTGCTCTGCTTGGTTACCTCTAGCCACGGGGAGCTCCCTCTCTGGCTGGGCACTGCGCCACTTTTCACAGGGCTCTGGGTGGAAGGCTTGGATGAATTCTCAGTGGGTGGGGCCTTTGCACACACCCACCCACCCGCAGTTCTGGGGGTCCCAAAGACCACTTAGGTTCAGTGATTCACTAGAAGTACTCAGAGAGCAGAAAAGCTGGTTCTCATGGTTATGATTTAATACAGCAAAAGGACACAGATTAAACTCAGCAAAAGAAAGAGGTGCACAGGGCAGGGTATAGGAGGGACCAGGCGTGTCTTCCAGTTGTGCTCTCCCAGTAGAGTTGCCAGGCTGGCCCTCCTTCCTCCCAGTTTTGATGCGTGCCTGCACACATGCAGCATTGCCAACCAGAGGCTCTCACCCAAGCTTTGGGGTCCAGGGTTTTTCTTGGGTGTCAGTCCTATAGGCATGGAGCACCCTGTGACTGGCCTTAGTGACTCCATCATCCCCAGGCCCCTCAGCAACCCCCAGAGGTCAAACTGATACTGCATGGCCCAGGGCCCTACCATAAACCATGTTAGTGTCAACTACCTGGTGTGGTTCAAAGTCCCAGGTACACAAACACCTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTCTCACCCAGGCTGGAGCGCAGTGGCACAATCGTGGCTCACTGCAGCCTCAACCTCCGGGACTCAGGTGAGCCTCCCACGTTAGCCTCCCAAGTGGCTGGGACTGCGGGCACGTGCCACCTATTTTTGTTATTTTTTGTAGAGATAGGGTCTCGCCATGTTGCCCAGGCTGGAACAGAGACACTGTTATCAGGCGGGATATTCTAGGGGCTTAGACTACCAGGAGCCAGGCAAGAGCCAGACCTTTCTTTGCACAAAGTGAATCGCTCACTGCATGCTCCCAACTCCCCTCTGCCTTTCACAGTCCCCGGCTGCCTCCCCAGCCTCCTTGGTGGAAAGGGGTGGCTGTGTGGACATCAGGCTCTAGCCCTGAAGCAGAGGCCAGGCCAAGAGAGCACAGCTTGGCCCTCCCCTGGGGCTGCCTCTTACCAATCCTGTGTCTCTGTCTTTTCTCTCTCAGCCGCTTCCCTCTGTCACTGTTCTGTTTCTGTCTCTTGACCTCTTTCCTTATTTCTGTCTCTCAAGCTTATGGGAGCAAGAGGTGGAATAATAAAAATGCAATGAATTGGCTGGGCGCGGTGGCTCACGCCTGTAACCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTATTAAAAATACAAAACATTAGCCAGGAGTGGTGGCAGGTGCCTCTAATCCCAG | TCACTGCAAGCTTTGCCTCCCGGGTTCACGCCATTCTCCTACCTCAGTCTCCACAGCAGCTGGGACTACAGGCGCCCACCACCACGCCTGGCTAATTTTTTTTTTTTTTTTTTTTTTTGCATTTTTAGTAGGGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCGAAAAAATTTTTAAAAATTAGCCAGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGCTGGGAGGATGATGAGCCCAGGAGGTGGAGGCTGCAGTGAGCGATGATTGCGCCACTGCCCTCCAGCCTGGGCGACAGAGCAACACCCCGGCCCTAAAATAAATTAATAGGCCAGGCACGGTGGCTCACCCCTGTAATCAATCCCAGCACTTTGGGAGGTCAAGGCAGGCGGATCACAAGTTCAGGAGATTGGGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAGAAATTAGCTGGGCATGGTGGCGGGCGCCTGCAGTGCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGTGACAAAGCGAGACTCCGTCTCAAAAAAAATAAAATAAAATAAAATAGTAGATTAATTATATATATTATTTTTCTTTTTCTTTTTCTTTTTTTGACACAGGGTCTCACTCTGTCACCCAGGGTGGAGTGCGGTGGCATGATCTTGGCTTACTCCACCTCCTAGGCTCAAGCAATCCTCCTGCCTCAGGCCCCTGAGTAGCTGGGACCACAGGCGTGCACCACCACACCTGGCTAATTTTTAAAATTTTTTTGTAGAGATAGGGTTTTGCCATGTTGCCCAGGCTGATCTGAAACTCCTGAGTTCAAGCGATCCTCCTGCCTCAGCCTCCCAATGTGCTGGGATTGCAGGAGCGAGCACTGCTCCCAGCCAATGAATGATTTTTTTTTTTTAAAGGGTGAGGCCACAAGACAGGGCGGGGGCGGCATGGGAACTCCTAGCCCTGACTCCCGGCCGCGGCTGCTCCCCTCCCAGGTACTACGACGTCCCCATCGCCACCCTGGACTTCTCCTCGCTGTACCCGTCCATCATGATGGCCCACAACCTGTGTTACACCACGCTCCTTCGGCCCGGGACTGCACAGAAACTGGGGTATAGTGCCCAATTCAGCATGTGTCCCCCGAGGCCCATCTGGGCCTTCCCTTGGGGGGCTCAGTCTGGTGGGGGGCATAGGCACAGGCCCAGAGATAGTAGGGAGTGGAGGGGTGCTTGAGGGGCCTGCGTGTGCTCATGGCCAAGGCCAGGACCGTAGGGCAGAGGTGGGCTGGAGCAGGAGGGTGGCCGGCAGTCACCCCAACATCTTCCAACCCAGCCTGACTGAGGATCAGTTCATCAGGACCCCCACCGGGGACGAGTTTGTGAAGACCTCAGTGCGGAAGGGGCTGCTGCCCCAGATCCTGGAGAACCTGCTCAGTGCCCGGAAGAGGTGAGCCCTGGAGATCGCCTGCTTGGAGCTCAGACCTGTTGGGGCCTCTGGGCAATCCCTGTCCCTCACTGGGACACCCCAGGGCTGCCCAGCCACCCTGCCCTCAGCTGTGCGTGAATTAGCACAAGGCATCCCCTCCTGGCAGCTTCCTTTTGCCCCCTTGGCCAGAAGCTTCTGTGCAGTGCACAGTACGCCCAACCGTACATGGCACTCACTTCCAGAAAGGAGCCCTGACCAATGCCCAGGTGCCGCCTGAGTGTGCTTTCCCCGTGTTCCCTCGCAGGGCCAAGGCCGAGCTGGCCAAGGAGACAGACCCCCTCCGGCGCCAGGTCCTGGATGGACGGCAGCTGGCGCTGAAGGTGAGCGCCAACTCCGTATACGGCTTCACTGGCGCCCAGGTGGGCAAGTTGCCGTGCCTGGAGATCTCACAGGTGGGCACTCGGGACCCCTGGAAGGCAACTGGGGGCAGGTGGGCCCCCTGTGTAGGAGACCAGGGCTCCATGTGGGGGACCTGTATCCAGAGGACTGGGCACCCCAACTCACTGGCCTTCTAGAGAGAGGATGCCAATGTGGCTTGAGCAATTGGTCCATTCCTTCACTCAGCAAATGCCTACTGAGCACACACTGTGGTCAGGGCTCACTCTGTGCCCTGGGGATACAGAGGGGAACAAAATGGATGAGAGCTCCTGTCCCTGTCATCTTGCAGCCCAGTGGGGACACTGACAGGTCTGTGTAAACGTGTTTAGGACACAAGTGGCGCTACGAGCTTTGCAGCCGGATAAAGCAGGAGGTGCGGACTGTCGGGGAGTGATGGGGCTGGGCGGGACTCACCCCTCTCAATAGGCGACGCTCACACAGAGGCCAAGGGACGTGGGGAGGGAAGCCATTCACCGTCCCCACGGCAGCGTCCCGGTCTGCCTACCCACGGCAGCTCTGCTGCTTGAACAGAAAAACAGATTCTTTGAAACCACAGAGGGCCTGAGTTTCCGAGATTGCCAAGCTGGGGTCAGTGCCCCAGCTCCTGGCATATGAGGGCCTCGGAAGGGTCTTCCTGTCCAGCCTTCTCCCCTGGGACTTGAGTCTTGGCCCATTCCAGGCCAGTAGTTGTGCTGCTCTGCTTGGTTACCTCTAGCCACGGGGAGCTCCCTCTCTGGCTGGGCACTGCGCCACTTTTCACAGGGCTCTGGGTGGAAGGCTTGGATGAATTCTCAGTGGGTGGGGCCTTTGCACACACCCACCCACCCGCAGTTCTGGGGGTCCCAAAGACCACTTAGGTTCAGTGATTCACTAGAAGTACTCAGAGAGCAGAAAAGCTGGTTCTCATGGTTATGATTTAATACAGCAAAAGGACACAGATTAAACTCAGCAAAAGAAAGAGGTGCACAGGGCAGGGTATAGGAGGGACCAGGCGTGTCTTCCAGTTGTGCTCTCCCAGTAGAGTTGCCAGGCTGGCCCTCCTTCCTCCCAGTTTTGATGCGTGCCTGCACACATGCAGCATTGCCAACCAGAGGCTCTCACCCAAGCTTTGGGGTCCAGGGTTTTTCTTGGGTGTCAGTCCTATAGGCATGGAGCACCCTGTGACTGGCCTTAGTGACTCCATCATCCCCAGGCCCCTCAGCAACCCCCAGAGGTCAAACTGATACTGCATGGCCCAGGGCCCTACCATAAACCATGTTAGTGTCAACTACCTGGTGTGGTTCAAAGTCCCAGGTACACAAACACCTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTCTCACCCAGGCTGGAGCGCAGTGGCACAATCGTGGCTCACTGCAGCCTCAACCTCCGGGACTCAGGTGAGCCTCCCACGTTAGCCTCCCAAGTGGCTGGGACTGCGGGCACGTGCCACCTATTTTTGTTATTTTTTGTAGAGATAGGGTCTCGCCATGTTGCCCAGGCTGGAACAGAGACACTGTTATCAGGCGGGATATTCTAGGGGCTTAGACTACCAGGAGCCAGGCAAGAGCCAGACCTTTCTTTGCACAAAGTGAATCGCTCACTGCATGCTCCCAACTCCCCTCTGCCTTTCACAGTCCCCGGCTGCCTCCCCAGCCTCCTTGGTGGAAAGGGGTGGCTGTGTGGACATCAGGCTCTAGCCCTGAAGCAGAGGCCAGGCCAAGAGAGCACAGCTTGGCCCTCCCCTGGGGCTGCCTCTTACCAATCCTGTGTCTCTGTCTTTTCTCTCTCAGCCGCTTCCCTCTGTCACTGTTCTGTTTCTGTCTCTTGACCTCTTTCCTTATTTCTGTCTCTCAAGCTTATGGGAGCAAGAGGTGGAATAATAAAAATGCAATGAATTGGCTGGGCGCGGTGGCTCACGCCTGTAACCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTATTAAAAATACAAAACATTAGCCAGGAGTGGTGGCAGGTGCCTCTAATCCCA | benign | 309,065 |
Clinical significance of chromosome 19, position 50413531, gene POLD1 (DNA polymerase delta 1, catalytic subunit): benign or pathogenic? Name the disease(s) if pathogenic. | benign | CTCTTGACCTCTTTCCTTATTTCTGTCTCTCAAGCTTATGGGAGCAAGAGGTGGAATAATAAAAATGCAATGAATTGGCTGGGCGCGGTGGCTCACGCCTGTAACCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTATTAAAAATACAAAACATTAGCCAGGAGTGGTGGCAGGTGCCTCTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCGCCAGTGCGCTCCAGCCTGGGCAACAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAGTAATGAATTACAGTGTTCACGCCTGTAATCCCAACACTTTGTGACACTGAGGAGGGAGGATCACTTGAGGCCAGGGGTTTAAGACCAGCCTGGGCAACATAGTGAAACCCCATCTCTACAAAAAATACAACCAAACAAAACTAGCCAGGCATTGTGGTAGCTCATGCCTGTAGTTGCAGCTACTCAGGAGGCTGAGACGGGAAGATGGCTTGAACCCAGCAGTTTGAGTTACAGTAAGCTGTGATGGCATCACTGCACTCCATTCTGGGTGACAGAGTTGAGACCCTGTCTCTTTTAGTTTTTGTTTGTTTGTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGCCACAATCTTGGCTCACTGCGACCTCTCCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCCACCATGCCTGGCTAATTTTTGCATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACTGGTGTGAGTCACCACGCTTGGCCTCCTGTCTCTTAAAAAAAAAAAAAAATTGAATCATTTCAGGAAAAGATTACAAAGGAAAGAAAAAGGAACATAGGACAGGTGGAACAAGTAAAAGCTAGACAGTAAAGTGGTAGACGTAAGCCCAGCTATATCAGTAATTACACTAAATGTAAATGGACAAAATGCTCTAGTTAGACAGATTTCCTGACTGGATCCACACAAACAAAAACAGAAGAATCACACCCATCTCTCCTTGGTGTCCCCACCCCCAGCCTCAGGTTTGGTGGTGGTGGTGGTGGTGGTGGTGTTGTTGTTTAAGTATTTTTTAGTTTTGTGTGTGTGTGTGTGTGTATTTTTAGTAGAGATGGTGTTTCACCATGTTGTCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCCAGCCACTTCAGCCTCCCAAAGTGCTGGGTGTACAGGCATAAGCCACCACGCCAGCTAGTTTTCTTAACTCTAAAATAAGACAGTGGGTTTCTCAATGGTTTCTTAGTCAGGGTGGTGCCACCCCCTGCTCTGGGGGGCATTTGTCAATGTGTAGGTAGGGCCAGTTCTGGTGGTACAGGGATGGGGGTGGCACTGCTGGCTTCCAGGGATGGGGCTGGCTATGTCGGTGGTCCTGTACCATAGAGAGCTGCCCAGAATGTCAGTGTGAGGGAAACACTGGGCCAGTGGCCTCTTCAGGCCGCAGTCTTTCCAGCATGCATTTGATGTAGTCACTTCCTTGTGCATGTCCAGAACTCTGAGCCAGGGAACCCACTTCTTTCCACCTGACCATTGAGGAGCCGCCTTATAGTCCCATTTTGCAGATTTGGGAACTGAGGCCCAGGAGGGGCAGAGTGGCTTGTACATAAGCCTATGCCACTGGGAAATGGCAGAGGCGGGACCCCTCCCCCGCCGGCCCACGTTCACTGCACATGGCCCCCAGGGCTTCACTCCGCATGATTCTCTCCCCGACAGAGCGTCACGGGGTTCGGACGTCAGATGATCGAGAAAACCAAGCAGCTGGTGGAGTCTAAGTACACAGTGGAGAATGGCTACAGCACCAGTGCCAAGGTCGGGGGCTGCCCACCGCTGCCCTGAGATGGGCCCAGGGCAGGTGGGGGGATGGAAGCCGGGCCGGACCCCCATGTCCCCGTGCCTCCTGGTCACACCCTGCCCACTCTCCTGTTGCATCCTTGGGTCCCGTTGGCATTAGCCACCTGCCACCCCCCGACACCAGTAGTTGACAGAAGGGACCCTGCTTCTCACATACACACATCCCCACCGCCCGCAGGTGGTGTATGGTGACACTGACTCCGTCATGTGCCGATTCGGCGTGTCCTCGGTGGCTGAGGCGATGGCCCTGGGGCGGGAGGCCGCGGACTGGGTGTCAGGTCACTTCCCGTCGCCCATCCGGCTGGAGTTTGAGAAGGTGCGTGGCTGGGTCAGGGGCTCTGCATTTAGGTGCCCTCATCAGGGTACTCAGGGTGTCCCGTTCTTTGGGTTCACAAAAGCCACAGTGTGAAGGGATGTTGCTGCTTAGATTCTCCTGAGGCTGGGGCCTTGGTTTGGGAAGCCTCCAAGGCCTTGGGCTTTGTTACCCTGGATGGCATCTGTTCTTTGAAAACCCTGTCGCTGTCCCTGGTTTTGAGGTGTCACAGTGTCCCTGGTTTTGAGGTTTCCCAGTACCTGTCAGATGTGGAGCTGCCCTCCACGCAGGGACCCTGATGGGGGTGCACCTTAGATCTGTGCACCATTGCCCCTGGCCCTCTGAGTGCGGCACACTTGGTCCCAGGAAACCTTGCACCATATTTTCTTTTGAAGAGTCTGGGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGAGTTCACAGCTCACTGCAGCCTCCAACTCCTGGGCTCCGGCGATCCTCCCGCCTTGGCCTCCTGAGCCGCCACGCCCAGTTCTCACACTGTACTGTTTCCCCGTGGCTTAACGCTCTCTCGTGCCAGGCCTTGGACTTGGAGCCTCGCAGAGTGGGGAGGTCTCTGCCTCAGGGCTCACCCAGCCGTAGTTTCTCCTCTCTTTCATGGGATGCTTCATCGACTCGCCTGTCTGGATCTCATGTTTTAGGGACTATCTGGATTTATCCCAGTCTCTGTTTCAGATTGGGGTCTCTGGTGTGGGGGCTCTGGCATTGCCGAGGGGCCTCAGGAGCCACTTCCAGCCATACAGTGTCTCGGTCCATCCCACCAGGCTCAGGGCACGGCTCCCATGTCCTCAAACTGCGTCTGGGACCCTGTCTACCTTCAGTTTCTGGGGGGCGTCTCCAGATTGGGGCTTGGCCTCCTCAGGCTCAGGGTCTTGGCCATGGCTCCCTCCCAGGTCTACTTCCCATACCTGCTTATCAGCAAGAAGCGCTACGCGGGCCTGCTCTTCTCCTCCCGGCCCGACGCCCACGACCGCATGGACTGCAAGGGCCTGGAGGCCGTGCGCAGGGACAACTGCCCCCTCGTGGCCAACCTGGTCACTGCCTCACTGCGCCGCCTGCTCATCGACCGGTGTGTGGGGCCTCCTCCCTCAGACTCAGGGGGCTGGGCCCCAAACCCCTCCTCCCTCAGACCCAGGAGTCTAGGCCCCAGCCCCTCCTCCCTCAGACCCACGGGTCCAGGCCCCCAGCCCCCTCCTCCTCAGATCCCGGGGTCAGGGCCCCCAGCCCCTTCCTCTCTTAGATACAAGAGTCCAGACCCCCAGCCCCTCCTCCTCTGGGAACACAGGTGTCAGGCCCAGCTCTTCCTCGGTGGTGAAGCAGTGGAAAGAGTCGGCTTGGGCAGCTGTGGGTTCAGGCCCTGCCTCTGCCACTCTGCAGCCTATGGTAGGAAGGGCCCCTCTCTGCCCTGAGCCTCAGCCCTAAGAGCTCATCCTGGTCTCCAGCCCTGAGACCCGTGGAGGCACCAGCCTGGCCCTCAGTGCCTTTTGGTGACGCTGTGCGGCCCGCTCTCCTACAGAGACCCTGAGGGCGCGGTGGCTCACGCACAGGACGTCATCTCGGACCTGCTGTGCAACCGCATCGATATCTCCCAGCTGGTCATCACCAAGGAGCTGACCCGCGCGGCCTCCGACTATGCCGGCAAGCAGGCCCACGTGGA | CTCTTGACCTCTTTCCTTATTTCTGTCTCTCAAGCTTATGGGAGCAAGAGGTGGAATAATAAAAATGCAATGAATTGGCTGGGCGCGGTGGCTCACGCCTGTAACCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTATTAAAAATACAAAACATTAGCCAGGAGTGGTGGCAGGTGCCTCTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCGCCAGTGCGCTCCAGCCTGGGCAACAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAGTAATGAATTACAGTGTTCACGCCTGTAATCCCAACACTTTGTGACACTGAGGAGGGAGGATCACTTGAGGCCAGGGGTTTAAGACCAGCCTGGGCAACATAGTGAAACCCCATCTCTACAAAAAATACAACCAAACAAAACTAGCCAGGCATTGTGGTAGCTCATGCCTGTAGTTGCAGCTACTCAGGAGGCTGAGACGGGAAGATGGCTTGAACCCAGCAGTTTGAGTTACAGTAAGCTGTGATGGCATCACTGCACTCCATTCTGGGTGACAGAGTTGAGACCCTGTCTCTTTTAGTTTTTGTTTGTTTGTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGCCACAATCTTGGCTCACTGCGACCTCTCCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCCACCATGCCTGGCTAATTTTTGCATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACTGGTGTGAGTCACCACGCTTGGCCTCCTGTCTCTTAAAAAAAAAAAAAAATTGAATCATTTCAGGAAAAGATTACAAAGGAAAGAAAAAGGAACATAGGACAGGTGGAACAAGTAAAAGCTAGACAGTAAAGTGGTAGACGTAAGCCCAGCTATATCAGTAATTACACTAAATGTAAATGGACAAAATGCTCTAGTTAGACAGATTTCCTGACTGGATCCACACAAACAAAAACAGAAGAATCACACCCATCTCTCCTTGGTGTCCCCACCCCCAGCCTCAGGTTTGGTGGTGGTGGTGGTGGTGGTGGTGTTGTTGTTTAAGTATTTTTTAGTTTTGTGTGTGTGTGTGTGTGTATTTTTAGTAGAGATGGTGTTTCACCATGTTGTCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCCAGCCACTTCAGCCTCCCAAAGTGCTGGGTGTACAGGCATAAGCCACCACGCCAGCTAGTTTTCTTAACTCTAAAATAAGACAGTGGGTTTCTCAATGGTTTCTTAGTCAGGGTGGTGCCACCCCCTGCTCTGGGGGGCATTTGTCAATGTGTAGGTAGGGCCAGTTCTGGTGGTACAGGGATGGGGGTGGCACTGCTGGCTTCCAGGGATGGGGCTGGCTATGTCGGTGGTCCTGTACCATAGAGAGCTGCCCAGAATGTCAGTGTGAGGGAAACACTGGGCCAGTGGCCTCTTCAGGCCGCAGTCTTTCCAGCATGCATTTGATGTAGTCACTTCCTTGTGCATGTCCAGAACTCTGAGCCAGGGAACCCACTTCTTTCCACCTGACCATTGAGGAGCCGCCTTATAGTCCCATTTTGCAGATTTGGGAACTGAGGCCCAGGAGGGGCAGAGTGGCTTGTACATAAGCCTATGCCACTGGGAAATGGCAGAGGCGGGACCCCTCCCCCGCCGGCCCACGTTCACTGCACATGGCCCCCAGGGCTTCACTCCGCATGATTCTCTCCCCGACAGAGCGTCACGGGGTTCGGACGTCAGATGATCGAGAAAACCAAGCAGCTGGTGGAGTCTAAGTACACAGTGGAGAATGGCTACAGCACCAGTGCCAAGGTCGGGGGCTGCCCAGGGCAGGTGGGGGGATGGAAGCCGGGCCGGACCCCCATGTCCCCGTGCCTCCTGGTCACACCCTGCCCACTCTCCTGTTGCATCCTTGGGTCCCGTTGGCATTAGCCACCTGCCACCCCCCGACACCAGTAGTTGACAGAAGGGACCCTGCTTCTCACATACACACATCCCCACCGCCCGCAGGTGGTGTATGGTGACACTGACTCCGTCATGTGCCGATTCGGCGTGTCCTCGGTGGCTGAGGCGATGGCCCTGGGGCGGGAGGCCGCGGACTGGGTGTCAGGTCACTTCCCGTCGCCCATCCGGCTGGAGTTTGAGAAGGTGCGTGGCTGGGTCAGGGGCTCTGCATTTAGGTGCCCTCATCAGGGTACTCAGGGTGTCCCGTTCTTTGGGTTCACAAAAGCCACAGTGTGAAGGGATGTTGCTGCTTAGATTCTCCTGAGGCTGGGGCCTTGGTTTGGGAAGCCTCCAAGGCCTTGGGCTTTGTTACCCTGGATGGCATCTGTTCTTTGAAAACCCTGTCGCTGTCCCTGGTTTTGAGGTGTCACAGTGTCCCTGGTTTTGAGGTTTCCCAGTACCTGTCAGATGTGGAGCTGCCCTCCACGCAGGGACCCTGATGGGGGTGCACCTTAGATCTGTGCACCATTGCCCCTGGCCCTCTGAGTGCGGCACACTTGGTCCCAGGAAACCTTGCACCATATTTTCTTTTGAAGAGTCTGGGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGAGTTCACAGCTCACTGCAGCCTCCAACTCCTGGGCTCCGGCGATCCTCCCGCCTTGGCCTCCTGAGCCGCCACGCCCAGTTCTCACACTGTACTGTTTCCCCGTGGCTTAACGCTCTCTCGTGCCAGGCCTTGGACTTGGAGCCTCGCAGAGTGGGGAGGTCTCTGCCTCAGGGCTCACCCAGCCGTAGTTTCTCCTCTCTTTCATGGGATGCTTCATCGACTCGCCTGTCTGGATCTCATGTTTTAGGGACTATCTGGATTTATCCCAGTCTCTGTTTCAGATTGGGGTCTCTGGTGTGGGGGCTCTGGCATTGCCGAGGGGCCTCAGGAGCCACTTCCAGCCATACAGTGTCTCGGTCCATCCCACCAGGCTCAGGGCACGGCTCCCATGTCCTCAAACTGCGTCTGGGACCCTGTCTACCTTCAGTTTCTGGGGGGCGTCTCCAGATTGGGGCTTGGCCTCCTCAGGCTCAGGGTCTTGGCCATGGCTCCCTCCCAGGTCTACTTCCCATACCTGCTTATCAGCAAGAAGCGCTACGCGGGCCTGCTCTTCTCCTCCCGGCCCGACGCCCACGACCGCATGGACTGCAAGGGCCTGGAGGCCGTGCGCAGGGACAACTGCCCCCTCGTGGCCAACCTGGTCACTGCCTCACTGCGCCGCCTGCTCATCGACCGGTGTGTGGGGCCTCCTCCCTCAGACTCAGGGGGCTGGGCCCCAAACCCCTCCTCCCTCAGACCCAGGAGTCTAGGCCCCAGCCCCTCCTCCCTCAGACCCACGGGTCCAGGCCCCCAGCCCCCTCCTCCTCAGATCCCGGGGTCAGGGCCCCCAGCCCCTTCCTCTCTTAGATACAAGAGTCCAGACCCCCAGCCCCTCCTCCTCTGGGAACACAGGTGTCAGGCCCAGCTCTTCCTCGGTGGTGAAGCAGTGGAAAGAGTCGGCTTGGGCAGCTGTGGGTTCAGGCCCTGCCTCTGCCACTCTGCAGCCTATGGTAGGAAGGGCCCCTCTCTGCCCTGAGCCTCAGCCCTAAGAGCTCATCCTGGTCTCCAGCCCTGAGACCCGTGGAGGCACCAGCCTGGCCCTCAGTGCCTTTTGGTGACGCTGTGCGGCCCGCTCTCCTACAGAGACCCTGAGGGCGCGGTGGCTCACGCACAGGACGTCATCTCGGACCTGCTGTGCAACCGCATCGATATCTCCCAGCTGGTCATCACCAAGGAGCTGACCCGCGCGGCCTCCGACTATGCCGGCAAGCAGGCCCACGTGGANNNNNNNNNNNNNNNNNNNNNN | benign | 309,091 |
Variant in gene POLD1 (DNA polymerase delta 1, catalytic subunit), located at chromosome 19 position 50416594: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | TGGATCTCATGTTTTAGGGACTATCTGGATTTATCCCAGTCTCTGTTTCAGATTGGGGTCTCTGGTGTGGGGGCTCTGGCATTGCCGAGGGGCCTCAGGAGCCACTTCCAGCCATACAGTGTCTCGGTCCATCCCACCAGGCTCAGGGCACGGCTCCCATGTCCTCAAACTGCGTCTGGGACCCTGTCTACCTTCAGTTTCTGGGGGGCGTCTCCAGATTGGGGCTTGGCCTCCTCAGGCTCAGGGTCTTGGCCATGGCTCCCTCCCAGGTCTACTTCCCATACCTGCTTATCAGCAAGAAGCGCTACGCGGGCCTGCTCTTCTCCTCCCGGCCCGACGCCCACGACCGCATGGACTGCAAGGGCCTGGAGGCCGTGCGCAGGGACAACTGCCCCCTCGTGGCCAACCTGGTCACTGCCTCACTGCGCCGCCTGCTCATCGACCGGTGTGTGGGGCCTCCTCCCTCAGACTCAGGGGGCTGGGCCCCAAACCCCTCCTCCCTCAGACCCAGGAGTCTAGGCCCCAGCCCCTCCTCCCTCAGACCCACGGGTCCAGGCCCCCAGCCCCCTCCTCCTCAGATCCCGGGGTCAGGGCCCCCAGCCCCTTCCTCTCTTAGATACAAGAGTCCAGACCCCCAGCCCCTCCTCCTCTGGGAACACAGGTGTCAGGCCCAGCTCTTCCTCGGTGGTGAAGCAGTGGAAAGAGTCGGCTTGGGCAGCTGTGGGTTCAGGCCCTGCCTCTGCCACTCTGCAGCCTATGGTAGGAAGGGCCCCTCTCTGCCCTGAGCCTCAGCCCTAAGAGCTCATCCTGGTCTCCAGCCCTGAGACCCGTGGAGGCACCAGCCTGGCCCTCAGTGCCTTTTGGTGACGCTGTGCGGCCCGCTCTCCTACAGAGACCCTGAGGGCGCGGTGGCTCACGCACAGGACGTCATCTCGGACCTGCTGTGCAACCGCATCGATATCTCCCAGCTGGTCATCACCAAGGAGCTGACCCGCGCGGCCTCCGACTATGCCGGCAAGCAGGCCCACGTGGAGCTGGCCGAGAGGTCCTGCGCGGGGCGGGTGGCCTGGCCAGAAATAACCCCCTCCTTCCTGCCAGCTGGGCCCACTTCCTACACCCTCGCCCCCACCCCCGCCACCCACCTGCCCTCACCCACCCGCCACCCCATCTCCACGCAGGATGAGGAAGCGGGACCCCGGGAGTGCGCCCAGCCTGGGCGACCGCGTCCCCTACGTGATCATCAGTGCCGCCAAGGGTGTGGCCGCCTACATGAAGTCGGAGGTCAGGCCCACCTGGCTGCCTGCTCCCGCCCAGCCCCCTCGCTCTCACTTCTGCTTTCCGAGATGGGCGGGCCTGCGGGAAGGGTGGGGCCTCCCGTGCCCTGTGGGGCCCTGAGAACCGCCCCCCATGGCAGCCTGGGTGTGGCCTCGGCCCCCTCTGGAGGTCCCCCCTCTATTCTGACCCCTCCCTTGCTTCCCTATGGAAGGGGCCCCAGTCCCTCCCCTGTGCATACAGCTCCCCAGCCGGGGGTTCCCTTGGATTCATAATCCTCCAGCTCTACCCCCACCCCCAGTGACCCACATCTTAGCCCCATGACCTCTGACCTCCTGACCCCTTCCTCATCCTTGCTTCCCCTTGTGAACTCTGACCCTTCCGTGGTGACCTGAGAGCCCTACAGACTCTGTGGCCCAGAGACTCCGTGACCTCCGACCCCATCCCAGACCCAGGCCCCCCCCATGTCACAGCCCGCAGGCAGGCCTAGGCCCTAAGCCCCAGGCCCCATGACCACCCCGTGTCCACCCCGGTGCCCTTTCCCTGGCTGCCCGGGTGTGACTGCCATGTGGCCGCAGGACCCGCTGTTCGTGCTGGAGCACAGCCTGCCCATTGACACGCAGTACTACCTGGAGCAGCAGCTGGCCAAGCCCCTCCTGCGCATCTTCGAGCCCATCCTGGGCGAGGGCCGTGCCGAGGCTGTGCTACTGCGTACGGGGGCACCAGGGGACTGGGGGCACCCTGGGGGGGCAGAGGAGATCACCGGCCCACCACCTGCCTCCTCTCCTGCAGGGGGGGACCACACGCGCTGCAAGACGGTGCTCACGGGCAAGGTGGGCGGCCTCCTGGCCTTCGCCAAACGCCGCAACTGCTGCATTGGCTGCCGCACAGTGCTCAGCCACCAGGGTGAGCGGCCCTGGCCACTGGGCCCCCACTGGCCCTCAACCTGCTCTGCCGTCACCCCAGATCCTAGACACCCACCCCATCGGCTGGCACTGCCACCCAGTGGGCCCAGGGCCCCTGGGTGGGTGGCCCCTGTCTCCACCCCCCACAGAGGGTCCTCGGCCCCCACCCCGGGAGTTCCCCAGGGGAGTTTTCCCAGCACACTTGCTCCGTTGTTCTCCAGCCTCTGGGGACTTTCAGAAGCTGGGATTGGCAGTGGGCAGGGATGGGGTGGCCCAGTTCCTGGCTGGGCCCCAGCACTTGGGCTGACCCGCCTCCCCACAGGAGCCGTGTGTGAGTTCTGCCAGCCCCGGGAGTCTGAGCTGTATCAGAAGGAGGTGAGAGGGCCGGGAGGTGAGGAGGGGCCAGGTGGGGAGGCGGGGGCGCCCTGCTCAGCCGCTGCCGTCCCCAGGTATCCCATCTGAATGCCCTGGAGGAGCGCTTCTCGCGCCTCTGGACGCAGTGCCAGCGCTGCCAGGGCAGCCTGCACGAGGACGTCATCTGCACCAGGTGTGTGCCATGTCCCGACCCTGGGCTGCCCCGCCCCTTCCCAGCTCCCAGGCCTGTGGGTTGTGGACCCAACCTCTGACTCCAAGGCCTCTCCTGAGCATCCTCCCCGCCCATCCCCTTCCAGCTGTGAGCTGTCCTGAGCCTCAGTGTCCTTGTCTGAAAAATGGGCCCATCCCAGCCCCCCAGAGGGGGTGGGTGCTTAGGGAGGCAGCGCCCGGCACCCAGTGTTGCCCGGGAAACGGCTGTCCTCCCGACACACCCAGCCAGCCTGGCCCCCTCCCCAGGGCGGGGCCGGGCTTTCCCCAGGGAACGGGTAGGCGGGGTGGGTTCCCACGCCAGGTGACAGGTGATATACGGCCAGCCATGGCCCTGCACCTCGCCAGGCACCCGCTGTTATCGGCTCCCCCCCCCCACCCCCCCCGTGCCTGCTGAGCAAACAGCCCGCTGCGGGAGGGGGCGGGTGGGCTGGGCAGCAGGCGGGGACCAAAGTCCTGGGAACAGCCCCCACCCCTCTCCCAGGCTGGGCACTGGGCCTTGGCTGGTCCTGACCCTGCCCCTGCCCCCACCCGCAGCCGGGACTGCCCCATCTTCTACATGCGCAAGAAGGTGCGGAAGGACCTGGAAGACCAGGAGCAGCTCCTGCGGCGCTTCGGACCCCCTGGACCTGAGGCCTGGTGACCTTGCAAGCATCCCATGGGGCGGGGGCGGGACCAGGGAGAATTAATAAAGTTCTGGACTTTTGCTATATGGTGCTTTGTGGTCTCTGGGGGACACTGTCTGGTTTCATAAGCCCTGGCCTTGGCTGGGACCCTCCTGAGGCCCGCACCGCCCCTCATCCTCAGCAAAAGCCCCCGGACTCCCACCTGTGCTGCCTGGTTCATGTGGGCCAAGCCTGCCTCAGTTTCCTCTCTGGCCCTGAAGGAACCCTTATACCAGCGCTTCTCTGCCCTGCTTAGGGCCCCCAGGTGTCTGGCCCCGGCCCAGCCCTCCCTGGTGATGACCCTGGGGACCCTGGTGGCTGCCCCGCCCTCCAGGTGCTGACCTGTTTCCTCCAGGCCCTGGGGCAGCCCCAGGCGCACCGGGGCTTCCACTCCTCAGCCCGGCCAAGGGGACCCCCCCATCCCCCGCCGGACCACACACCCACGATGTTTCCACGTCGGGGTCCTGGCAATGGGCTTTGGGTCTGGGTTTCCCCCCAGCGACTCCCATCTCTATCCCCGCAGCCTCTAACTGCCGTCAGATGCCCTCGGCCCTCCCGTCACCTCACACATCCCCCGGGGAGAGTCTTGTGCTTGCCCCTCGGCCCCCAGCCCGCCCCTGCTGGAATTCGGCTCCTGGGTCCAGATCCTCCGTTTCCTGATTCTCCTCTTCA | TGGATCTCATGTTTTAGGGACTATCTGGATTTATCCCAGTCTCTGTTTCAGATTGGGGTCTCTGGTGTGGGGGCTCTGGCATTGCCGAGGGGCCTCAGGAGCCACTTCCAGCCATACAGTGTCTCGGTCCATCCCACCAGGCTCAGGGCACGGCTCCCATGTCCTCAAACTGCGTCTGGGACCCTGTCTACCTTCAGTTTCTGGGGGGCGTCTCCAGATTGGGGCTTGGCCTCCTCAGGCTCAGGGTCTTGGCCATGGCTCCCTCCCAGGTCTACTTCCCATACCTGCTTATCAGCAAGAAGCGCTACGCGGGCCTGCTCTTCTCCTCCCGGCCCGACGCCCACGACCGCATGGACTGCAAGGGCCTGGAGGCCGTGCGCAGGGACAACTGCCCCCTCGTGGCCAACCTGGTCACTGCCTCACTGCGCCGCCTGCTCATCGACCGGTGTGTGGGGCCTCCTCCCTCAGACTCAGGGGGCTGGGCCCCAAACCCCTCCTCCCTCAGACCCAGGAGTCTAGGCCCCAGCCCCTCCTCCCTCAGACCCACGGGTCCAGGCCCCCAGCCCCCTCCTCCTCAGATCCCGGGGTCAGGGCCCCCAGCCCCTTCCTCTCTTAGATACAAGAGTCCAGACCCCCAGCCCCTCCTCCTCTGGGAACACAGGTGTCAGGCCCAGCTCTTCCTCGGTGGTGAAGCAGTGGAAAGAGTCGGCTTGGGCAGCTGTGGGTTCAGGCCCTGCCTCTGCCACTCTGCAGCCTATGGTAGGAAGGGCCCCTCTCTGCCCTGAGCCTCAGCCCTAAGAGCTCATCCTGGTCTCCAGCCCTGAGACCCGTGGAGGCACCAGCCTGGCCCTCAGTGCCTTTTGGTGACGCTGTGCGGCCCGCTCTCCTACAGAGACCCTGAGGGCGCGGTGGCTCACGCACAGGACGTCATCTCGGACCTGCTGTGCAACCGCATCGATATCTCCCAGCTGGTCATCACCAAGGAGCTGACCCGCGCGGCCTCCGACTATGCCGGCAAGCAGGCCCACGTGGAGCTGGCCGAGAGGTCCTGCGCGGGGCGGGTGGCCTGGCCAGAAATAACCCCCTCCTTCCTGCCAGCTGGGCCCACTTCCTACACCCTCGCCCCCACCCCCGCCACCCACCTGCCCTCACCCACCCGCCACCCCATCTCCACGCAGGATGAGGAAGCGGGACCCCGGGAGTGCGCCCAGCCTGGGCGACCGCGTCCCCTACGTGATCATCAGTGCCGCCAAGGGTGTGGCCGCCTACATGAAGTCGGAGGTCAGGCCCACCTGGCTGCCTGCTCCCGCCCAGCCCCCTCGCTCTCACTTCTGCTTTCCGAGATGGGCGGGCCTGCGGGAAGGGTGGGGCCTCCCGTGCCCTGTGGGGCCCTGAGAACCGCCCCCCATGGCAGCCTGGGTGTGGCCTCGGCCCCCTCTGGAGGTCCCCCCTCTATTCTGACCCCTCCCTTGCTTCCCTATGGAAGGGGCCCCAGTCCCTCCCCTGTGCATACAGCTCCCCAGCCGGGGGTTCCCTTGGATTCATAATCCTCCAGCTCTACCCCCACCCCCAGTGACCCACATCTTAGCCCCATGACCTCTGACCTCCTGACCCCTTCCTCATCCTTGCTTCCCCTTGTGAACTCTGACCCTTCCGTGGTGACCTGAGAGCCCTACAGACTCTGTGGCCCAGAGACTCCGTGACCTCCGACCCCATCCCAGACCCAGGCCCCCCCCATGTCACAGCCCGCAGGCAGGCCTAGGCCCTAAGCCCCAGGCCCCATGACCACCCCGTGTCCACCCCGGTGCCCTTTCCCTGGCTGCCCGGGTGTGACTGCCATGTGGCCGCAGGACCCGCTGTTCGTGCTGGAGCACAGCCTGCCCATTGACACGCAGTACTACCTGGAGCAGCAGCTGGCCAAGCCCCTCCTGCGCATCTTCGAGCCCATCCTGGGCGAGGGCCGTGCCGAGGCTGTGCTACTGCGTACGGGGGCACCAGGGGACTGGGGGCACCCTGGGGGGGCAGAGGAGATCACCGGCCCACCACCTGCCTCTCCTGCAGGGGGGGACCACACGCGCTGCAAGACGGTGCTCACGGGCAAGGTGGGCGGCCTCCTGGCCTTCGCCAAACGCCGCAACTGCTGCATTGGCTGCCGCACAGTGCTCAGCCACCAGGGTGAGCGGCCCTGGCCACTGGGCCCCCACTGGCCCTCAACCTGCTCTGCCGTCACCCCAGATCCTAGACACCCACCCCATCGGCTGGCACTGCCACCCAGTGGGCCCAGGGCCCCTGGGTGGGTGGCCCCTGTCTCCACCCCCCACAGAGGGTCCTCGGCCCCCACCCCGGGAGTTCCCCAGGGGAGTTTTCCCAGCACACTTGCTCCGTTGTTCTCCAGCCTCTGGGGACTTTCAGAAGCTGGGATTGGCAGTGGGCAGGGATGGGGTGGCCCAGTTCCTGGCTGGGCCCCAGCACTTGGGCTGACCCGCCTCCCCACAGGAGCCGTGTGTGAGTTCTGCCAGCCCCGGGAGTCTGAGCTGTATCAGAAGGAGGTGAGAGGGCCGGGAGGTGAGGAGGGGCCAGGTGGGGAGGCGGGGGCGCCCTGCTCAGCCGCTGCCGTCCCCAGGTATCCCATCTGAATGCCCTGGAGGAGCGCTTCTCGCGCCTCTGGACGCAGTGCCAGCGCTGCCAGGGCAGCCTGCACGAGGACGTCATCTGCACCAGGTGTGTGCCATGTCCCGACCCTGGGCTGCCCCGCCCCTTCCCAGCTCCCAGGCCTGTGGGTTGTGGACCCAACCTCTGACTCCAAGGCCTCTCCTGAGCATCCTCCCCGCCCATCCCCTTCCAGCTGTGAGCTGTCCTGAGCCTCAGTGTCCTTGTCTGAAAAATGGGCCCATCCCAGCCCCCCAGAGGGGGTGGGTGCTTAGGGAGGCAGCGCCCGGCACCCAGTGTTGCCCGGGAAACGGCTGTCCTCCCGACACACCCAGCCAGCCTGGCCCCCTCCCCAGGGCGGGGCCGGGCTTTCCCCAGGGAACGGGTAGGCGGGGTGGGTTCCCACGCCAGGTGACAGGTGATATACGGCCAGCCATGGCCCTGCACCTCGCCAGGCACCCGCTGTTATCGGCTCCCCCCCCCCACCCCCCCCGTGCCTGCTGAGCAAACAGCCCGCTGCGGGAGGGGGCGGGTGGGCTGGGCAGCAGGCGGGGACCAAAGTCCTGGGAACAGCCCCCACCCCTCTCCCAGGCTGGGCACTGGGCCTTGGCTGGTCCTGACCCTGCCCCTGCCCCCACCCGCAGCCGGGACTGCCCCATCTTCTACATGCGCAAGAAGGTGCGGAAGGACCTGGAAGACCAGGAGCAGCTCCTGCGGCGCTTCGGACCCCCTGGACCTGAGGCCTGGTGACCTTGCAAGCATCCCATGGGGCGGGGGCGGGACCAGGGAGAATTAATAAAGTTCTGGACTTTTGCTATATGGTGCTTTGTGGTCTCTGGGGGACACTGTCTGGTTTCATAAGCCCTGGCCTTGGCTGGGACCCTCCTGAGGCCCGCACCGCCCCTCATCCTCAGCAAAAGCCCCCGGACTCCCACCTGTGCTGCCTGGTTCATGTGGGCCAAGCCTGCCTCAGTTTCCTCTCTGGCCCTGAAGGAACCCTTATACCAGCGCTTCTCTGCCCTGCTTAGGGCCCCCAGGTGTCTGGCCCCGGCCCAGCCCTCCCTGGTGATGACCCTGGGGACCCTGGTGGCTGCCCCGCCCTCCAGGTGCTGACCTGTTTCCTCCAGGCCCTGGGGCAGCCCCAGGCGCACCGGGGCTTCCACTCCTCAGCCCGGCCAAGGGGACCCCCCCATCCCCCGCCGGACCACACACCCACGATGTTTCCACGTCGGGGTCCTGGCAATGGGCTTTGGGTCTGGGTTTCCCCCCAGCGACTCCCATCTCTATCCCCGCAGCCTCTAACTGCCGTCAGATGCCCTCGGCCCTCCCGTCACCTCACACATCCCCCGGGGAGAGTCTTGTGCTTGCCCCTCGGCCCCCAGCCCGCCCCTGCTGGAATTCGGCTCCTGGGTCCAGATCCTCCGTTTCCTGATTCTCCTCTTCANNN | benign | 309,290 |
Is the genetic change at chromosome 19, position 50416731, within gene POLD1 (DNA polymerase delta 1, catalytic subunit) benign or pathogenic? Name the disease(s) if pathogenic. | benign | CAGGCTCAGGGCACGGCTCCCATGTCCTCAAACTGCGTCTGGGACCCTGTCTACCTTCAGTTTCTGGGGGGCGTCTCCAGATTGGGGCTTGGCCTCCTCAGGCTCAGGGTCTTGGCCATGGCTCCCTCCCAGGTCTACTTCCCATACCTGCTTATCAGCAAGAAGCGCTACGCGGGCCTGCTCTTCTCCTCCCGGCCCGACGCCCACGACCGCATGGACTGCAAGGGCCTGGAGGCCGTGCGCAGGGACAACTGCCCCCTCGTGGCCAACCTGGTCACTGCCTCACTGCGCCGCCTGCTCATCGACCGGTGTGTGGGGCCTCCTCCCTCAGACTCAGGGGGCTGGGCCCCAAACCCCTCCTCCCTCAGACCCAGGAGTCTAGGCCCCAGCCCCTCCTCCCTCAGACCCACGGGTCCAGGCCCCCAGCCCCCTCCTCCTCAGATCCCGGGGTCAGGGCCCCCAGCCCCTTCCTCTCTTAGATACAAGAGTCCAGACCCCCAGCCCCTCCTCCTCTGGGAACACAGGTGTCAGGCCCAGCTCTTCCTCGGTGGTGAAGCAGTGGAAAGAGTCGGCTTGGGCAGCTGTGGGTTCAGGCCCTGCCTCTGCCACTCTGCAGCCTATGGTAGGAAGGGCCCCTCTCTGCCCTGAGCCTCAGCCCTAAGAGCTCATCCTGGTCTCCAGCCCTGAGACCCGTGGAGGCACCAGCCTGGCCCTCAGTGCCTTTTGGTGACGCTGTGCGGCCCGCTCTCCTACAGAGACCCTGAGGGCGCGGTGGCTCACGCACAGGACGTCATCTCGGACCTGCTGTGCAACCGCATCGATATCTCCCAGCTGGTCATCACCAAGGAGCTGACCCGCGCGGCCTCCGACTATGCCGGCAAGCAGGCCCACGTGGAGCTGGCCGAGAGGTCCTGCGCGGGGCGGGTGGCCTGGCCAGAAATAACCCCCTCCTTCCTGCCAGCTGGGCCCACTTCCTACACCCTCGCCCCCACCCCCGCCACCCACCTGCCCTCACCCACCCGCCACCCCATCTCCACGCAGGATGAGGAAGCGGGACCCCGGGAGTGCGCCCAGCCTGGGCGACCGCGTCCCCTACGTGATCATCAGTGCCGCCAAGGGTGTGGCCGCCTACATGAAGTCGGAGGTCAGGCCCACCTGGCTGCCTGCTCCCGCCCAGCCCCCTCGCTCTCACTTCTGCTTTCCGAGATGGGCGGGCCTGCGGGAAGGGTGGGGCCTCCCGTGCCCTGTGGGGCCCTGAGAACCGCCCCCCATGGCAGCCTGGGTGTGGCCTCGGCCCCCTCTGGAGGTCCCCCCTCTATTCTGACCCCTCCCTTGCTTCCCTATGGAAGGGGCCCCAGTCCCTCCCCTGTGCATACAGCTCCCCAGCCGGGGGTTCCCTTGGATTCATAATCCTCCAGCTCTACCCCCACCCCCAGTGACCCACATCTTAGCCCCATGACCTCTGACCTCCTGACCCCTTCCTCATCCTTGCTTCCCCTTGTGAACTCTGACCCTTCCGTGGTGACCTGAGAGCCCTACAGACTCTGTGGCCCAGAGACTCCGTGACCTCCGACCCCATCCCAGACCCAGGCCCCCCCCATGTCACAGCCCGCAGGCAGGCCTAGGCCCTAAGCCCCAGGCCCCATGACCACCCCGTGTCCACCCCGGTGCCCTTTCCCTGGCTGCCCGGGTGTGACTGCCATGTGGCCGCAGGACCCGCTGTTCGTGCTGGAGCACAGCCTGCCCATTGACACGCAGTACTACCTGGAGCAGCAGCTGGCCAAGCCCCTCCTGCGCATCTTCGAGCCCATCCTGGGCGAGGGCCGTGCCGAGGCTGTGCTACTGCGTACGGGGGCACCAGGGGACTGGGGGCACCCTGGGGGGGCAGAGGAGATCACCGGCCCACCACCTGCCTCCTCTCCTGCAGGGGGGGACCACACGCGCTGCAAGACGGTGCTCACGGGCAAGGTGGGCGGCCTCCTGGCCTTCGCCAAACGCCGCAACTGCTGCATTGGCTGCCGCACAGTGCTCAGCCACCAGGGTGAGCGGCCCTGGCCACTGGGCCCCCACTGGCCCTCAACCTGCTCTGCCGTCACCCCAGATCCTAGACACCCACCCCATCGGCTGGCACTGCCACCCAGTGGGCCCAGGGCCCCTGGGTGGGTGGCCCCTGTCTCCACCCCCCACAGAGGGTCCTCGGCCCCCACCCCGGGAGTTCCCCAGGGGAGTTTTCCCAGCACACTTGCTCCGTTGTTCTCCAGCCTCTGGGGACTTTCAGAAGCTGGGATTGGCAGTGGGCAGGGATGGGGTGGCCCAGTTCCTGGCTGGGCCCCAGCACTTGGGCTGACCCGCCTCCCCACAGGAGCCGTGTGTGAGTTCTGCCAGCCCCGGGAGTCTGAGCTGTATCAGAAGGAGGTGAGAGGGCCGGGAGGTGAGGAGGGGCCAGGTGGGGAGGCGGGGGCGCCCTGCTCAGCCGCTGCCGTCCCCAGGTATCCCATCTGAATGCCCTGGAGGAGCGCTTCTCGCGCCTCTGGACGCAGTGCCAGCGCTGCCAGGGCAGCCTGCACGAGGACGTCATCTGCACCAGGTGTGTGCCATGTCCCGACCCTGGGCTGCCCCGCCCCTTCCCAGCTCCCAGGCCTGTGGGTTGTGGACCCAACCTCTGACTCCAAGGCCTCTCCTGAGCATCCTCCCCGCCCATCCCCTTCCAGCTGTGAGCTGTCCTGAGCCTCAGTGTCCTTGTCTGAAAAATGGGCCCATCCCAGCCCCCCAGAGGGGGTGGGTGCTTAGGGAGGCAGCGCCCGGCACCCAGTGTTGCCCGGGAAACGGCTGTCCTCCCGACACACCCAGCCAGCCTGGCCCCCTCCCCAGGGCGGGGCCGGGCTTTCCCCAGGGAACGGGTAGGCGGGGTGGGTTCCCACGCCAGGTGACAGGTGATATACGGCCAGCCATGGCCCTGCACCTCGCCAGGCACCCGCTGTTATCGGCTCCCCCCCCCCACCCCCCCCGTGCCTGCTGAGCAAACAGCCCGCTGCGGGAGGGGGCGGGTGGGCTGGGCAGCAGGCGGGGACCAAAGTCCTGGGAACAGCCCCCACCCCTCTCCCAGGCTGGGCACTGGGCCTTGGCTGGTCCTGACCCTGCCCCTGCCCCCACCCGCAGCCGGGACTGCCCCATCTTCTACATGCGCAAGAAGGTGCGGAAGGACCTGGAAGACCAGGAGCAGCTCCTGCGGCGCTTCGGACCCCCTGGACCTGAGGCCTGGTGACCTTGCAAGCATCCCATGGGGCGGGGGCGGGACCAGGGAGAATTAATAAAGTTCTGGACTTTTGCTATATGGTGCTTTGTGGTCTCTGGGGGACACTGTCTGGTTTCATAAGCCCTGGCCTTGGCTGGGACCCTCCTGAGGCCCGCACCGCCCCTCATCCTCAGCAAAAGCCCCCGGACTCCCACCTGTGCTGCCTGGTTCATGTGGGCCAAGCCTGCCTCAGTTTCCTCTCTGGCCCTGAAGGAACCCTTATACCAGCGCTTCTCTGCCCTGCTTAGGGCCCCCAGGTGTCTGGCCCCGGCCCAGCCCTCCCTGGTGATGACCCTGGGGACCCTGGTGGCTGCCCCGCCCTCCAGGTGCTGACCTGTTTCCTCCAGGCCCTGGGGCAGCCCCAGGCGCACCGGGGCTTCCACTCCTCAGCCCGGCCAAGGGGACCCCCCCATCCCCCGCCGGACCACACACCCACGATGTTTCCACGTCGGGGTCCTGGCAATGGGCTTTGGGTCTGGGTTTCCCCCCAGCGACTCCCATCTCTATCCCCGCAGCCTCTAACTGCCGTCAGATGCCCTCGGCCCTCCCGTCACCTCACACATCCCCCGGGGAGAGTCTTGTGCTTGCCCCTCGGCCCCCAGCCCGCCCCTGCTGGAATTCGGCTCCTGGGTCCAGATCCTCCGTTTCCTGATTCTCCTCTTCAGTGAACCCCAGCCCTTCCTCGATGTTTTCAGGGTTCCCCCAAATCCAGCTCCTGTCCCATCTCCAGCCCTCAAGGTCAGCCCCCCAAACCCAGCCCCACGGGGATCCCCAAATCCAGACAGCCCCTGGCCCGCCATC | CAGGCTCAGGGCACGGCTCCCATGTCCTCAAACTGCGTCTGGGACCCTGTCTACCTTCAGTTTCTGGGGGGCGTCTCCAGATTGGGGCTTGGCCTCCTCAGGCTCAGGGTCTTGGCCATGGCTCCCTCCCAGGTCTACTTCCCATACCTGCTTATCAGCAAGAAGCGCTACGCGGGCCTGCTCTTCTCCTCCCGGCCCGACGCCCACGACCGCATGGACTGCAAGGGCCTGGAGGCCGTGCGCAGGGACAACTGCCCCCTCGTGGCCAACCTGGTCACTGCCTCACTGCGCCGCCTGCTCATCGACCGGTGTGTGGGGCCTCCTCCCTCAGACTCAGGGGGCTGGGCCCCAAACCCCTCCTCCCTCAGACCCAGGAGTCTAGGCCCCAGCCCCTCCTCCCTCAGACCCACGGGTCCAGGCCCCCAGCCCCCTCCTCCTCAGATCCCGGGGTCAGGGCCCCCAGCCCCTTCCTCTCTTAGATACAAGAGTCCAGACCCCCAGCCCCTCCTCCTCTGGGAACACAGGTGTCAGGCCCAGCTCTTCCTCGGTGGTGAAGCAGTGGAAAGAGTCGGCTTGGGCAGCTGTGGGTTCAGGCCCTGCCTCTGCCACTCTGCAGCCTATGGTAGGAAGGGCCCCTCTCTGCCCTGAGCCTCAGCCCTAAGAGCTCATCCTGGTCTCCAGCCCTGAGACCCGTGGAGGCACCAGCCTGGCCCTCAGTGCCTTTTGGTGACGCTGTGCGGCCCGCTCTCCTACAGAGACCCTGAGGGCGCGGTGGCTCACGCACAGGACGTCATCTCGGACCTGCTGTGCAACCGCATCGATATCTCCCAGCTGGTCATCACCAAGGAGCTGACCCGCGCGGCCTCCGACTATGCCGGCAAGCAGGCCCACGTGGAGCTGGCCGAGAGGTCCTGCGCGGGGCGGGTGGCCTGGCCAGAAATAACCCCCTCCTTCCTGCCAGCTGGGCCCACTTCCTACACCCTCGCCCCCACCCCCGCCACCCACCTGCCCTCACCCACCCGCCACCCCATCTCCACGCAGGATGAGGAAGCGGGACCCCGGGAGTGCGCCCAGCCTGGGCGACCGCGTCCCCTACGTGATCATCAGTGCCGCCAAGGGTGTGGCCGCCTACATGAAGTCGGAGGTCAGGCCCACCTGGCTGCCTGCTCCCGCCCAGCCCCCTCGCTCTCACTTCTGCTTTCCGAGATGGGCGGGCCTGCGGGAAGGGTGGGGCCTCCCGTGCCCTGTGGGGCCCTGAGAACCGCCCCCCATGGCAGCCTGGGTGTGGCCTCGGCCCCCTCTGGAGGTCCCCCCTCTATTCTGACCCCTCCCTTGCTTCCCTATGGAAGGGGCCCCAGTCCCTCCCCTGTGCATACAGCTCCCCAGCCGGGGGTTCCCTTGGATTCATAATCCTCCAGCTCTACCCCCACCCCCAGTGACCCACATCTTAGCCCCATGACCTCTGACCTCCTGACCCCTTCCTCATCCTTGCTTCCCCTTGTGAACTCTGACCCTTCCGTGGTGACCTGAGAGCCCTACAGACTCTGTGGCCCAGAGACTCCGTGACCTCCGACCCCATCCCAGACCCAGGCCCCCCCCATGTCACAGCCCGCAGGCAGGCCTAGGCCCTAAGCCCCAGGCCCCATGACCACCCCGTGTCCACCCCGGTGCCCTTTCCCTGGCTGCCCGGGTGTGACTGCCATGTGGCCGCAGGACCCGCTGTTCGTGCTGGAGCACAGCCTGCCCATTGACACGCAGTACTACCTGGAGCAGCAGCTGGCCAAGCCCCTCCTGCGCATCTTCGAGCCCATCCTGGGCGAGGGCCGTGCCGAGGCTGTGCTACTGCGTACGGGGGCACCAGGGGACTGGGGGCACCCTGGGGGGGCAGAGGAGATCACCGGCCCACCACCTGCCTCCTCTCCTGCAGGGGGGGACCACACGCGCTGCAAGACGGTGCTCACGGGCAAGGTGGGCGGCCTCCTGGCCTTCGCCAAACGCCGCAACTGCTGCATTGGCTGCCGCACAGTGCTCAGCCACCAGGGTGAGCGGCCTGGCCACTGGGCCCCCACTGGCCCTCAACCTGCTCTGCCGTCACCCCAGATCCTAGACACCCACCCCATCGGCTGGCACTGCCACCCAGTGGGCCCAGGGCCCCTGGGTGGGTGGCCCCTGTCTCCACCCCCCACAGAGGGTCCTCGGCCCCCACCCCGGGAGTTCCCCAGGGGAGTTTTCCCAGCACACTTGCTCCGTTGTTCTCCAGCCTCTGGGGACTTTCAGAAGCTGGGATTGGCAGTGGGCAGGGATGGGGTGGCCCAGTTCCTGGCTGGGCCCCAGCACTTGGGCTGACCCGCCTCCCCACAGGAGCCGTGTGTGAGTTCTGCCAGCCCCGGGAGTCTGAGCTGTATCAGAAGGAGGTGAGAGGGCCGGGAGGTGAGGAGGGGCCAGGTGGGGAGGCGGGGGCGCCCTGCTCAGCCGCTGCCGTCCCCAGGTATCCCATCTGAATGCCCTGGAGGAGCGCTTCTCGCGCCTCTGGACGCAGTGCCAGCGCTGCCAGGGCAGCCTGCACGAGGACGTCATCTGCACCAGGTGTGTGCCATGTCCCGACCCTGGGCTGCCCCGCCCCTTCCCAGCTCCCAGGCCTGTGGGTTGTGGACCCAACCTCTGACTCCAAGGCCTCTCCTGAGCATCCTCCCCGCCCATCCCCTTCCAGCTGTGAGCTGTCCTGAGCCTCAGTGTCCTTGTCTGAAAAATGGGCCCATCCCAGCCCCCCAGAGGGGGTGGGTGCTTAGGGAGGCAGCGCCCGGCACCCAGTGTTGCCCGGGAAACGGCTGTCCTCCCGACACACCCAGCCAGCCTGGCCCCCTCCCCAGGGCGGGGCCGGGCTTTCCCCAGGGAACGGGTAGGCGGGGTGGGTTCCCACGCCAGGTGACAGGTGATATACGGCCAGCCATGGCCCTGCACCTCGCCAGGCACCCGCTGTTATCGGCTCCCCCCCCCCACCCCCCCCGTGCCTGCTGAGCAAACAGCCCGCTGCGGGAGGGGGCGGGTGGGCTGGGCAGCAGGCGGGGACCAAAGTCCTGGGAACAGCCCCCACCCCTCTCCCAGGCTGGGCACTGGGCCTTGGCTGGTCCTGACCCTGCCCCTGCCCCCACCCGCAGCCGGGACTGCCCCATCTTCTACATGCGCAAGAAGGTGCGGAAGGACCTGGAAGACCAGGAGCAGCTCCTGCGGCGCTTCGGACCCCCTGGACCTGAGGCCTGGTGACCTTGCAAGCATCCCATGGGGCGGGGGCGGGACCAGGGAGAATTAATAAAGTTCTGGACTTTTGCTATATGGTGCTTTGTGGTCTCTGGGGGACACTGTCTGGTTTCATAAGCCCTGGCCTTGGCTGGGACCCTCCTGAGGCCCGCACCGCCCCTCATCCTCAGCAAAAGCCCCCGGACTCCCACCTGTGCTGCCTGGTTCATGTGGGCCAAGCCTGCCTCAGTTTCCTCTCTGGCCCTGAAGGAACCCTTATACCAGCGCTTCTCTGCCCTGCTTAGGGCCCCCAGGTGTCTGGCCCCGGCCCAGCCCTCCCTGGTGATGACCCTGGGGACCCTGGTGGCTGCCCCGCCCTCCAGGTGCTGACCTGTTTCCTCCAGGCCCTGGGGCAGCCCCAGGCGCACCGGGGCTTCCACTCCTCAGCCCGGCCAAGGGGACCCCCCCATCCCCCGCCGGACCACACACCCACGATGTTTCCACGTCGGGGTCCTGGCAATGGGCTTTGGGTCTGGGTTTCCCCCCAGCGACTCCCATCTCTATCCCCGCAGCCTCTAACTGCCGTCAGATGCCCTCGGCCCTCCCGTCACCTCACACATCCCCCGGGGAGAGTCTTGTGCTTGCCCCTCGGCCCCCAGCCCGCCCCTGCTGGAATTCGGCTCCTGGGTCCAGATCCTCCGTTTCCTGATTCTCCTCTTCAGTGAACCCCAGCCCTTCCTCGATGTTTTCAGGGTTCCCCCAAATCCAGCTCCTGTCCCATCTCCAGCCCTCAAGGTCAGCCCCCCAAACCCAGCCCCACGGGGATCCCCAAATCCAGACAGCCCCTGGCCCGCCATCN | benign | 309,324 |
Assess the variant on chromosome 19, position 50417272, impacting POLD1 (DNA polymerase delta 1, catalytic subunit): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | TCCTCGGTGGTGAAGCAGTGGAAAGAGTCGGCTTGGGCAGCTGTGGGTTCAGGCCCTGCCTCTGCCACTCTGCAGCCTATGGTAGGAAGGGCCCCTCTCTGCCCTGAGCCTCAGCCCTAAGAGCTCATCCTGGTCTCCAGCCCTGAGACCCGTGGAGGCACCAGCCTGGCCCTCAGTGCCTTTTGGTGACGCTGTGCGGCCCGCTCTCCTACAGAGACCCTGAGGGCGCGGTGGCTCACGCACAGGACGTCATCTCGGACCTGCTGTGCAACCGCATCGATATCTCCCAGCTGGTCATCACCAAGGAGCTGACCCGCGCGGCCTCCGACTATGCCGGCAAGCAGGCCCACGTGGAGCTGGCCGAGAGGTCCTGCGCGGGGCGGGTGGCCTGGCCAGAAATAACCCCCTCCTTCCTGCCAGCTGGGCCCACTTCCTACACCCTCGCCCCCACCCCCGCCACCCACCTGCCCTCACCCACCCGCCACCCCATCTCCACGCAGGATGAGGAAGCGGGACCCCGGGAGTGCGCCCAGCCTGGGCGACCGCGTCCCCTACGTGATCATCAGTGCCGCCAAGGGTGTGGCCGCCTACATGAAGTCGGAGGTCAGGCCCACCTGGCTGCCTGCTCCCGCCCAGCCCCCTCGCTCTCACTTCTGCTTTCCGAGATGGGCGGGCCTGCGGGAAGGGTGGGGCCTCCCGTGCCCTGTGGGGCCCTGAGAACCGCCCCCCATGGCAGCCTGGGTGTGGCCTCGGCCCCCTCTGGAGGTCCCCCCTCTATTCTGACCCCTCCCTTGCTTCCCTATGGAAGGGGCCCCAGTCCCTCCCCTGTGCATACAGCTCCCCAGCCGGGGGTTCCCTTGGATTCATAATCCTCCAGCTCTACCCCCACCCCCAGTGACCCACATCTTAGCCCCATGACCTCTGACCTCCTGACCCCTTCCTCATCCTTGCTTCCCCTTGTGAACTCTGACCCTTCCGTGGTGACCTGAGAGCCCTACAGACTCTGTGGCCCAGAGACTCCGTGACCTCCGACCCCATCCCAGACCCAGGCCCCCCCCATGTCACAGCCCGCAGGCAGGCCTAGGCCCTAAGCCCCAGGCCCCATGACCACCCCGTGTCCACCCCGGTGCCCTTTCCCTGGCTGCCCGGGTGTGACTGCCATGTGGCCGCAGGACCCGCTGTTCGTGCTGGAGCACAGCCTGCCCATTGACACGCAGTACTACCTGGAGCAGCAGCTGGCCAAGCCCCTCCTGCGCATCTTCGAGCCCATCCTGGGCGAGGGCCGTGCCGAGGCTGTGCTACTGCGTACGGGGGCACCAGGGGACTGGGGGCACCCTGGGGGGGCAGAGGAGATCACCGGCCCACCACCTGCCTCCTCTCCTGCAGGGGGGGACCACACGCGCTGCAAGACGGTGCTCACGGGCAAGGTGGGCGGCCTCCTGGCCTTCGCCAAACGCCGCAACTGCTGCATTGGCTGCCGCACAGTGCTCAGCCACCAGGGTGAGCGGCCCTGGCCACTGGGCCCCCACTGGCCCTCAACCTGCTCTGCCGTCACCCCAGATCCTAGACACCCACCCCATCGGCTGGCACTGCCACCCAGTGGGCCCAGGGCCCCTGGGTGGGTGGCCCCTGTCTCCACCCCCCACAGAGGGTCCTCGGCCCCCACCCCGGGAGTTCCCCAGGGGAGTTTTCCCAGCACACTTGCTCCGTTGTTCTCCAGCCTCTGGGGACTTTCAGAAGCTGGGATTGGCAGTGGGCAGGGATGGGGTGGCCCAGTTCCTGGCTGGGCCCCAGCACTTGGGCTGACCCGCCTCCCCACAGGAGCCGTGTGTGAGTTCTGCCAGCCCCGGGAGTCTGAGCTGTATCAGAAGGAGGTGAGAGGGCCGGGAGGTGAGGAGGGGCCAGGTGGGGAGGCGGGGGCGCCCTGCTCAGCCGCTGCCGTCCCCAGGTATCCCATCTGAATGCCCTGGAGGAGCGCTTCTCGCGCCTCTGGACGCAGTGCCAGCGCTGCCAGGGCAGCCTGCACGAGGACGTCATCTGCACCAGGTGTGTGCCATGTCCCGACCCTGGGCTGCCCCGCCCCTTCCCAGCTCCCAGGCCTGTGGGTTGTGGACCCAACCTCTGACTCCAAGGCCTCTCCTGAGCATCCTCCCCGCCCATCCCCTTCCAGCTGTGAGCTGTCCTGAGCCTCAGTGTCCTTGTCTGAAAAATGGGCCCATCCCAGCCCCCCAGAGGGGGTGGGTGCTTAGGGAGGCAGCGCCCGGCACCCAGTGTTGCCCGGGAAACGGCTGTCCTCCCGACACACCCAGCCAGCCTGGCCCCCTCCCCAGGGCGGGGCCGGGCTTTCCCCAGGGAACGGGTAGGCGGGGTGGGTTCCCACGCCAGGTGACAGGTGATATACGGCCAGCCATGGCCCTGCACCTCGCCAGGCACCCGCTGTTATCGGCTCCCCCCCCCCACCCCCCCCGTGCCTGCTGAGCAAACAGCCCGCTGCGGGAGGGGGCGGGTGGGCTGGGCAGCAGGCGGGGACCAAAGTCCTGGGAACAGCCCCCACCCCTCTCCCAGGCTGGGCACTGGGCCTTGGCTGGTCCTGACCCTGCCCCTGCCCCCACCCGCAGCCGGGACTGCCCCATCTTCTACATGCGCAAGAAGGTGCGGAAGGACCTGGAAGACCAGGAGCAGCTCCTGCGGCGCTTCGGACCCCCTGGACCTGAGGCCTGGTGACCTTGCAAGCATCCCATGGGGCGGGGGCGGGACCAGGGAGAATTAATAAAGTTCTGGACTTTTGCTATATGGTGCTTTGTGGTCTCTGGGGGACACTGTCTGGTTTCATAAGCCCTGGCCTTGGCTGGGACCCTCCTGAGGCCCGCACCGCCCCTCATCCTCAGCAAAAGCCCCCGGACTCCCACCTGTGCTGCCTGGTTCATGTGGGCCAAGCCTGCCTCAGTTTCCTCTCTGGCCCTGAAGGAACCCTTATACCAGCGCTTCTCTGCCCTGCTTAGGGCCCCCAGGTGTCTGGCCCCGGCCCAGCCCTCCCTGGTGATGACCCTGGGGACCCTGGTGGCTGCCCCGCCCTCCAGGTGCTGACCTGTTTCCTCCAGGCCCTGGGGCAGCCCCAGGCGCACCGGGGCTTCCACTCCTCAGCCCGGCCAAGGGGACCCCCCCATCCCCCGCCGGACCACACACCCACGATGTTTCCACGTCGGGGTCCTGGCAATGGGCTTTGGGTCTGGGTTTCCCCCCAGCGACTCCCATCTCTATCCCCGCAGCCTCTAACTGCCGTCAGATGCCCTCGGCCCTCCCGTCACCTCACACATCCCCCGGGGAGAGTCTTGTGCTTGCCCCTCGGCCCCCAGCCCGCCCCTGCTGGAATTCGGCTCCTGGGTCCAGATCCTCCGTTTCCTGATTCTCCTCTTCAGTGAACCCCAGCCCTTCCTCGATGTTTTCAGGGTTCCCCCAAATCCAGCTCCTGTCCCATCTCCAGCCCTCAAGGTCAGCCCCCCAAACCCAGCCCCACGGGGATCCCCAAATCCAGACAGCCCCTGGCCCGCCATCCCTGCCATGTGACAAAGGGGTTGTGCAATCCAGCCCCCTCCCCTGACCCCCTCCCTGAGGGGATTTTTGAGGAGGGCCGAGCTTGTGGCCAGCGGGCACCCTCCTCCCCCCGGCAGGGGCTGGGCCAAGATATAAATAGGGTTGGCGGCTGCAGCGGGCGGCAAACAGCCCGCCCGGCACCACCATGCTCGCCCTGGAGGCTGCACAGTAAGTGAGGGCCCCCAAACCTGCACCCGGGGTCCCCACCTGCACTGCCCCTCTGTGGGGCCTCACCCATGGGCAGTGGTTTCTCTGCTCCTCACGGCCGGTGGGTGGGAGTGGAGGGGAGGGGTCCACCCTGTCTCTTGCCCCTTCTGGTTCTGTTCCCTCTTCACTTCGGACTCTCCATCCCCCCAGTTCCTATCTTTCCTGGTCCCCAAAGATCTCATTTCCCCAGAACACTTGCTAGCGTGCCCTCCTGCGGGCGTCCTCCGTGGCTCTCACTCTGTCCATCCTCCTGTCTCCCCGAGTTCCCGTATCTGTTCGCTCTGTATCTGGCATC | TCCTCGGTGGTGAAGCAGTGGAAAGAGTCGGCTTGGGCAGCTGTGGGTTCAGGCCCTGCCTCTGCCACTCTGCAGCCTATGGTAGGAAGGGCCCCTCTCTGCCCTGAGCCTCAGCCCTAAGAGCTCATCCTGGTCTCCAGCCCTGAGACCCGTGGAGGCACCAGCCTGGCCCTCAGTGCCTTTTGGTGACGCTGTGCGGCCCGCTCTCCTACAGAGACCCTGAGGGCGCGGTGGCTCACGCACAGGACGTCATCTCGGACCTGCTGTGCAACCGCATCGATATCTCCCAGCTGGTCATCACCAAGGAGCTGACCCGCGCGGCCTCCGACTATGCCGGCAAGCAGGCCCACGTGGAGCTGGCCGAGAGGTCCTGCGCGGGGCGGGTGGCCTGGCCAGAAATAACCCCCTCCTTCCTGCCAGCTGGGCCCACTTCCTACACCCTCGCCCCCACCCCCGCCACCCACCTGCCCTCACCCACCCGCCACCCCATCTCCACGCAGGATGAGGAAGCGGGACCCCGGGAGTGCGCCCAGCCTGGGCGACCGCGTCCCCTACGTGATCATCAGTGCCGCCAAGGGTGTGGCCGCCTACATGAAGTCGGAGGTCAGGCCCACCTGGCTGCCTGCTCCCGCCCAGCCCCCTCGCTCTCACTTCTGCTTTCCGAGATGGGCGGGCCTGCGGGAAGGGTGGGGCCTCCCGTGCCCTGTGGGGCCCTGAGAACCGCCCCCCATGGCAGCCTGGGTGTGGCCTCGGCCCCCTCTGGAGGTCCCCCCTCTATTCTGACCCCTCCCTTGCTTCCCTATGGAAGGGGCCCCAGTCCCTCCCCTGTGCATACAGCTCCCCAGCCGGGGGTTCCCTTGGATTCATAATCCTCCAGCTCTACCCCCACCCCCAGTGACCCACATCTTAGCCCCATGACCTCTGACCTCCTGACCCCTTCCTCATCCTTGCTTCCCCTTGTGAACTCTGACCCTTCCGTGGTGACCTGAGAGCCCTACAGACTCTGTGGCCCAGAGACTCCGTGACCTCCGACCCCATCCCAGACCCAGGCCCCCCCCATGTCACAGCCCGCAGGCAGGCCTAGGCCCTAAGCCCCAGGCCCCATGACCACCCCGTGTCCACCCCGGTGCCCTTTCCCTGGCTGCCCGGGTGTGACTGCCATGTGGCCGCAGGACCCGCTGTTCGTGCTGGAGCACAGCCTGCCCATTGACACGCAGTACTACCTGGAGCAGCAGCTGGCCAAGCCCCTCCTGCGCATCTTCGAGCCCATCCTGGGCGAGGGCCGTGCCGAGGCTGTGCTACTGCGTACGGGGGCACCAGGGGACTGGGGGCACCCTGGGGGGGCAGAGGAGATCACCGGCCCACCACCTGCCTCCTCTCCTGCAGGGGGGGACCACACGCGCTGCAAGACGGTGCTCACGGGCAAGGTGGGCGGCCTCCTGGCCTTCGCCAAACGCCGCAACTGCTGCATTGGCTGCCGCACAGTGCTCAGCCACCAGGGTGAGCGGCCCTGGCCACTGGGCCCCCACTGGCCCTCAACCTGCTCTGCCGTCACCCCAGATCCTAGACACCCACCCCATCGGCTGGCACTGCCACCCAGTGGGCCCAGGGCCCCTGGGTGGGTGGCCCCTGTCTCCACCCCCCACAGAGGGTCCTCGGCCCCCACCCCGGGAGTTCCCCAGGGGAGTTTTCCCAGCACACTTGCTCCGTTGTTCTCCAGCCTCTGGGGACTTTCAGAAGCTGGGATTGGCAGTGGGCAGGGATGGGGTGGCCCAGTTCCTGGCTGGGCCCCAGCACTTGGGCTGACCCGCCTCCCCACAGGAGCCGTGTGTGAGTTCTGCCAGCCCCGGGAGTCTGAGCTGTATCAGAAGGAGGTGAGAGGGCCGGGAGGTGAGGAGGGGCCAGGTGGGGAGGCGGGGGCGCCCTGCTCAGCCGCTGCCGTCCCCAGGTATCCCATCTGAATGCCCTGGAGGAGCGCTTCTCGCGCCTCTGGACGCAGTGCCAGCGCTGCCAGGGCAGCCTGCACGAGGACGTCATCTGCACCAGGTGTGTCCCGACCCTGGGCTGCCCCGCCCCTTCCCAGCTCCCAGGCCTGTGGGTTGTGGACCCAACCTCTGACTCCAAGGCCTCTCCTGAGCATCCTCCCCGCCCATCCCCTTCCAGCTGTGAGCTGTCCTGAGCCTCAGTGTCCTTGTCTGAAAAATGGGCCCATCCCAGCCCCCCAGAGGGGGTGGGTGCTTAGGGAGGCAGCGCCCGGCACCCAGTGTTGCCCGGGAAACGGCTGTCCTCCCGACACACCCAGCCAGCCTGGCCCCCTCCCCAGGGCGGGGCCGGGCTTTCCCCAGGGAACGGGTAGGCGGGGTGGGTTCCCACGCCAGGTGACAGGTGATATACGGCCAGCCATGGCCCTGCACCTCGCCAGGCACCCGCTGTTATCGGCTCCCCCCCCCCACCCCCCCCGTGCCTGCTGAGCAAACAGCCCGCTGCGGGAGGGGGCGGGTGGGCTGGGCAGCAGGCGGGGACCAAAGTCCTGGGAACAGCCCCCACCCCTCTCCCAGGCTGGGCACTGGGCCTTGGCTGGTCCTGACCCTGCCCCTGCCCCCACCCGCAGCCGGGACTGCCCCATCTTCTACATGCGCAAGAAGGTGCGGAAGGACCTGGAAGACCAGGAGCAGCTCCTGCGGCGCTTCGGACCCCCTGGACCTGAGGCCTGGTGACCTTGCAAGCATCCCATGGGGCGGGGGCGGGACCAGGGAGAATTAATAAAGTTCTGGACTTTTGCTATATGGTGCTTTGTGGTCTCTGGGGGACACTGTCTGGTTTCATAAGCCCTGGCCTTGGCTGGGACCCTCCTGAGGCCCGCACCGCCCCTCATCCTCAGCAAAAGCCCCCGGACTCCCACCTGTGCTGCCTGGTTCATGTGGGCCAAGCCTGCCTCAGTTTCCTCTCTGGCCCTGAAGGAACCCTTATACCAGCGCTTCTCTGCCCTGCTTAGGGCCCCCAGGTGTCTGGCCCCGGCCCAGCCCTCCCTGGTGATGACCCTGGGGACCCTGGTGGCTGCCCCGCCCTCCAGGTGCTGACCTGTTTCCTCCAGGCCCTGGGGCAGCCCCAGGCGCACCGGGGCTTCCACTCCTCAGCCCGGCCAAGGGGACCCCCCCATCCCCCGCCGGACCACACACCCACGATGTTTCCACGTCGGGGTCCTGGCAATGGGCTTTGGGTCTGGGTTTCCCCCCAGCGACTCCCATCTCTATCCCCGCAGCCTCTAACTGCCGTCAGATGCCCTCGGCCCTCCCGTCACCTCACACATCCCCCGGGGAGAGTCTTGTGCTTGCCCCTCGGCCCCCAGCCCGCCCCTGCTGGAATTCGGCTCCTGGGTCCAGATCCTCCGTTTCCTGATTCTCCTCTTCAGTGAACCCCAGCCCTTCCTCGATGTTTTCAGGGTTCCCCCAAATCCAGCTCCTGTCCCATCTCCAGCCCTCAAGGTCAGCCCCCCAAACCCAGCCCCACGGGGATCCCCAAATCCAGACAGCCCCTGGCCCGCCATCCCTGCCATGTGACAAAGGGGTTGTGCAATCCAGCCCCCTCCCCTGACCCCCTCCCTGAGGGGATTTTTGAGGAGGGCCGAGCTTGTGGCCAGCGGGCACCCTCCTCCCCCCGGCAGGGGCTGGGCCAAGATATAAATAGGGTTGGCGGCTGCAGCGGGCGGCAAACAGCCCGCCCGGCACCACCATGCTCGCCCTGGAGGCTGCACAGTAAGTGAGGGCCCCCAAACCTGCACCCGGGGTCCCCACCTGCACTGCCCCTCTGTGGGGCCTCACCCATGGGCAGTGGTTTCTCTGCTCCTCACGGCCGGTGGGTGGGAGTGGAGGGGAGGGGTCCACCCTGTCTCTTGCCCCTTCTGGTTCTGTTCCCTCTTCACTTCGGACTCTCCATCCCCCCAGTTCCTATCTTTCCTGGTCCCCAAAGATCTCATTTCCCCAGAACACTTGCTAGCGTGCCCTCCTGCGGGCGTCCTCCGTGGCTCTCACTCTGTCCATCCTCCTGTCTCCCCGAGTTCCCGTATCTGTTCGCTCTGTATCTGGCATCNNNNNNN | benign | 309,360 |
Does the variant on chromosome 19 at location 50417278 affecting gene POLD1 (DNA polymerase delta 1, catalytic subunit) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | GTGGTGAAGCAGTGGAAAGAGTCGGCTTGGGCAGCTGTGGGTTCAGGCCCTGCCTCTGCCACTCTGCAGCCTATGGTAGGAAGGGCCCCTCTCTGCCCTGAGCCTCAGCCCTAAGAGCTCATCCTGGTCTCCAGCCCTGAGACCCGTGGAGGCACCAGCCTGGCCCTCAGTGCCTTTTGGTGACGCTGTGCGGCCCGCTCTCCTACAGAGACCCTGAGGGCGCGGTGGCTCACGCACAGGACGTCATCTCGGACCTGCTGTGCAACCGCATCGATATCTCCCAGCTGGTCATCACCAAGGAGCTGACCCGCGCGGCCTCCGACTATGCCGGCAAGCAGGCCCACGTGGAGCTGGCCGAGAGGTCCTGCGCGGGGCGGGTGGCCTGGCCAGAAATAACCCCCTCCTTCCTGCCAGCTGGGCCCACTTCCTACACCCTCGCCCCCACCCCCGCCACCCACCTGCCCTCACCCACCCGCCACCCCATCTCCACGCAGGATGAGGAAGCGGGACCCCGGGAGTGCGCCCAGCCTGGGCGACCGCGTCCCCTACGTGATCATCAGTGCCGCCAAGGGTGTGGCCGCCTACATGAAGTCGGAGGTCAGGCCCACCTGGCTGCCTGCTCCCGCCCAGCCCCCTCGCTCTCACTTCTGCTTTCCGAGATGGGCGGGCCTGCGGGAAGGGTGGGGCCTCCCGTGCCCTGTGGGGCCCTGAGAACCGCCCCCCATGGCAGCCTGGGTGTGGCCTCGGCCCCCTCTGGAGGTCCCCCCTCTATTCTGACCCCTCCCTTGCTTCCCTATGGAAGGGGCCCCAGTCCCTCCCCTGTGCATACAGCTCCCCAGCCGGGGGTTCCCTTGGATTCATAATCCTCCAGCTCTACCCCCACCCCCAGTGACCCACATCTTAGCCCCATGACCTCTGACCTCCTGACCCCTTCCTCATCCTTGCTTCCCCTTGTGAACTCTGACCCTTCCGTGGTGACCTGAGAGCCCTACAGACTCTGTGGCCCAGAGACTCCGTGACCTCCGACCCCATCCCAGACCCAGGCCCCCCCCATGTCACAGCCCGCAGGCAGGCCTAGGCCCTAAGCCCCAGGCCCCATGACCACCCCGTGTCCACCCCGGTGCCCTTTCCCTGGCTGCCCGGGTGTGACTGCCATGTGGCCGCAGGACCCGCTGTTCGTGCTGGAGCACAGCCTGCCCATTGACACGCAGTACTACCTGGAGCAGCAGCTGGCCAAGCCCCTCCTGCGCATCTTCGAGCCCATCCTGGGCGAGGGCCGTGCCGAGGCTGTGCTACTGCGTACGGGGGCACCAGGGGACTGGGGGCACCCTGGGGGGGCAGAGGAGATCACCGGCCCACCACCTGCCTCCTCTCCTGCAGGGGGGGACCACACGCGCTGCAAGACGGTGCTCACGGGCAAGGTGGGCGGCCTCCTGGCCTTCGCCAAACGCCGCAACTGCTGCATTGGCTGCCGCACAGTGCTCAGCCACCAGGGTGAGCGGCCCTGGCCACTGGGCCCCCACTGGCCCTCAACCTGCTCTGCCGTCACCCCAGATCCTAGACACCCACCCCATCGGCTGGCACTGCCACCCAGTGGGCCCAGGGCCCCTGGGTGGGTGGCCCCTGTCTCCACCCCCCACAGAGGGTCCTCGGCCCCCACCCCGGGAGTTCCCCAGGGGAGTTTTCCCAGCACACTTGCTCCGTTGTTCTCCAGCCTCTGGGGACTTTCAGAAGCTGGGATTGGCAGTGGGCAGGGATGGGGTGGCCCAGTTCCTGGCTGGGCCCCAGCACTTGGGCTGACCCGCCTCCCCACAGGAGCCGTGTGTGAGTTCTGCCAGCCCCGGGAGTCTGAGCTGTATCAGAAGGAGGTGAGAGGGCCGGGAGGTGAGGAGGGGCCAGGTGGGGAGGCGGGGGCGCCCTGCTCAGCCGCTGCCGTCCCCAGGTATCCCATCTGAATGCCCTGGAGGAGCGCTTCTCGCGCCTCTGGACGCAGTGCCAGCGCTGCCAGGGCAGCCTGCACGAGGACGTCATCTGCACCAGGTGTGTGCCATGTCCCGACCCTGGGCTGCCCCGCCCCTTCCCAGCTCCCAGGCCTGTGGGTTGTGGACCCAACCTCTGACTCCAAGGCCTCTCCTGAGCATCCTCCCCGCCCATCCCCTTCCAGCTGTGAGCTGTCCTGAGCCTCAGTGTCCTTGTCTGAAAAATGGGCCCATCCCAGCCCCCCAGAGGGGGTGGGTGCTTAGGGAGGCAGCGCCCGGCACCCAGTGTTGCCCGGGAAACGGCTGTCCTCCCGACACACCCAGCCAGCCTGGCCCCCTCCCCAGGGCGGGGCCGGGCTTTCCCCAGGGAACGGGTAGGCGGGGTGGGTTCCCACGCCAGGTGACAGGTGATATACGGCCAGCCATGGCCCTGCACCTCGCCAGGCACCCGCTGTTATCGGCTCCCCCCCCCCACCCCCCCCGTGCCTGCTGAGCAAACAGCCCGCTGCGGGAGGGGGCGGGTGGGCTGGGCAGCAGGCGGGGACCAAAGTCCTGGGAACAGCCCCCACCCCTCTCCCAGGCTGGGCACTGGGCCTTGGCTGGTCCTGACCCTGCCCCTGCCCCCACCCGCAGCCGGGACTGCCCCATCTTCTACATGCGCAAGAAGGTGCGGAAGGACCTGGAAGACCAGGAGCAGCTCCTGCGGCGCTTCGGACCCCCTGGACCTGAGGCCTGGTGACCTTGCAAGCATCCCATGGGGCGGGGGCGGGACCAGGGAGAATTAATAAAGTTCTGGACTTTTGCTATATGGTGCTTTGTGGTCTCTGGGGGACACTGTCTGGTTTCATAAGCCCTGGCCTTGGCTGGGACCCTCCTGAGGCCCGCACCGCCCCTCATCCTCAGCAAAAGCCCCCGGACTCCCACCTGTGCTGCCTGGTTCATGTGGGCCAAGCCTGCCTCAGTTTCCTCTCTGGCCCTGAAGGAACCCTTATACCAGCGCTTCTCTGCCCTGCTTAGGGCCCCCAGGTGTCTGGCCCCGGCCCAGCCCTCCCTGGTGATGACCCTGGGGACCCTGGTGGCTGCCCCGCCCTCCAGGTGCTGACCTGTTTCCTCCAGGCCCTGGGGCAGCCCCAGGCGCACCGGGGCTTCCACTCCTCAGCCCGGCCAAGGGGACCCCCCCATCCCCCGCCGGACCACACACCCACGATGTTTCCACGTCGGGGTCCTGGCAATGGGCTTTGGGTCTGGGTTTCCCCCCAGCGACTCCCATCTCTATCCCCGCAGCCTCTAACTGCCGTCAGATGCCCTCGGCCCTCCCGTCACCTCACACATCCCCCGGGGAGAGTCTTGTGCTTGCCCCTCGGCCCCCAGCCCGCCCCTGCTGGAATTCGGCTCCTGGGTCCAGATCCTCCGTTTCCTGATTCTCCTCTTCAGTGAACCCCAGCCCTTCCTCGATGTTTTCAGGGTTCCCCCAAATCCAGCTCCTGTCCCATCTCCAGCCCTCAAGGTCAGCCCCCCAAACCCAGCCCCACGGGGATCCCCAAATCCAGACAGCCCCTGGCCCGCCATCCCTGCCATGTGACAAAGGGGTTGTGCAATCCAGCCCCCTCCCCTGACCCCCTCCCTGAGGGGATTTTTGAGGAGGGCCGAGCTTGTGGCCAGCGGGCACCCTCCTCCCCCCGGCAGGGGCTGGGCCAAGATATAAATAGGGTTGGCGGCTGCAGCGGGCGGCAAACAGCCCGCCCGGCACCACCATGCTCGCCCTGGAGGCTGCACAGTAAGTGAGGGCCCCCAAACCTGCACCCGGGGTCCCCACCTGCACTGCCCCTCTGTGGGGCCTCACCCATGGGCAGTGGTTTCTCTGCTCCTCACGGCCGGTGGGTGGGAGTGGAGGGGAGGGGTCCACCCTGTCTCTTGCCCCTTCTGGTTCTGTTCCCTCTTCACTTCGGACTCTCCATCCCCCCAGTTCCTATCTTTCCTGGTCCCCAAAGATCTCATTTCCCCAGAACACTTGCTAGCGTGCCCTCCTGCGGGCGTCCTCCGTGGCTCTCACTCTGTCCATCCTCCTGTCTCCCCGAGTTCCCGTATCTGTTCGCTCTGTATCTGGCATCTCCCAG | GTGGTGAAGCAGTGGAAAGAGTCGGCTTGGGCAGCTGTGGGTTCAGGCCCTGCCTCTGCCACTCTGCAGCCTATGGTAGGAAGGGCCCCTCTCTGCCCTGAGCCTCAGCCCTAAGAGCTCATCCTGGTCTCCAGCCCTGAGACCCGTGGAGGCACCAGCCTGGCCCTCAGTGCCTTTTGGTGACGCTGTGCGGCCCGCTCTCCTACAGAGACCCTGAGGGCGCGGTGGCTCACGCACAGGACGTCATCTCGGACCTGCTGTGCAACCGCATCGATATCTCCCAGCTGGTCATCACCAAGGAGCTGACCCGCGCGGCCTCCGACTATGCCGGCAAGCAGGCCCACGTGGAGCTGGCCGAGAGGTCCTGCGCGGGGCGGGTGGCCTGGCCAGAAATAACCCCCTCCTTCCTGCCAGCTGGGCCCACTTCCTACACCCTCGCCCCCACCCCCGCCACCCACCTGCCCTCACCCACCCGCCACCCCATCTCCACGCAGGATGAGGAAGCGGGACCCCGGGAGTGCGCCCAGCCTGGGCGACCGCGTCCCCTACGTGATCATCAGTGCCGCCAAGGGTGTGGCCGCCTACATGAAGTCGGAGGTCAGGCCCACCTGGCTGCCTGCTCCCGCCCAGCCCCCTCGCTCTCACTTCTGCTTTCCGAGATGGGCGGGCCTGCGGGAAGGGTGGGGCCTCCCGTGCCCTGTGGGGCCCTGAGAACCGCCCCCCATGGCAGCCTGGGTGTGGCCTCGGCCCCCTCTGGAGGTCCCCCCTCTATTCTGACCCCTCCCTTGCTTCCCTATGGAAGGGGCCCCAGTCCCTCCCCTGTGCATACAGCTCCCCAGCCGGGGGTTCCCTTGGATTCATAATCCTCCAGCTCTACCCCCACCCCCAGTGACCCACATCTTAGCCCCATGACCTCTGACCTCCTGACCCCTTCCTCATCCTTGCTTCCCCTTGTGAACTCTGACCCTTCCGTGGTGACCTGAGAGCCCTACAGACTCTGTGGCCCAGAGACTCCGTGACCTCCGACCCCATCCCAGACCCAGGCCCCCCCCATGTCACAGCCCGCAGGCAGGCCTAGGCCCTAAGCCCCAGGCCCCATGACCACCCCGTGTCCACCCCGGTGCCCTTTCCCTGGCTGCCCGGGTGTGACTGCCATGTGGCCGCAGGACCCGCTGTTCGTGCTGGAGCACAGCCTGCCCATTGACACGCAGTACTACCTGGAGCAGCAGCTGGCCAAGCCCCTCCTGCGCATCTTCGAGCCCATCCTGGGCGAGGGCCGTGCCGAGGCTGTGCTACTGCGTACGGGGGCACCAGGGGACTGGGGGCACCCTGGGGGGGCAGAGGAGATCACCGGCCCACCACCTGCCTCCTCTCCTGCAGGGGGGGACCACACGCGCTGCAAGACGGTGCTCACGGGCAAGGTGGGCGGCCTCCTGGCCTTCGCCAAACGCCGCAACTGCTGCATTGGCTGCCGCACAGTGCTCAGCCACCAGGGTGAGCGGCCCTGGCCACTGGGCCCCCACTGGCCCTCAACCTGCTCTGCCGTCACCCCAGATCCTAGACACCCACCCCATCGGCTGGCACTGCCACCCAGTGGGCCCAGGGCCCCTGGGTGGGTGGCCCCTGTCTCCACCCCCCACAGAGGGTCCTCGGCCCCCACCCCGGGAGTTCCCCAGGGGAGTTTTCCCAGCACACTTGCTCCGTTGTTCTCCAGCCTCTGGGGACTTTCAGAAGCTGGGATTGGCAGTGGGCAGGGATGGGGTGGCCCAGTTCCTGGCTGGGCCCCAGCACTTGGGCTGACCCGCCTCCCCACAGGAGCCGTGTGTGAGTTCTGCCAGCCCCGGGAGTCTGAGCTGTATCAGAAGGAGGTGAGAGGGCCGGGAGGTGAGGAGGGGCCAGGTGGGGAGGCGGGGGCGCCCTGCTCAGCCGCTGCCGTCCCCAGGTATCCCATCTGAATGCCCTGGAGGAGCGCTTCTCGCGCCTCTGGACGCAGTGCCAGCGCTGCCAGGGCAGCCTGCACGAGGACGTCATCTGCACCAGGTGTGTGCTGTGTCCCGACCCTGGGCTGCCCCGCCCCTTCCCAGCTCCCAGGCCTGTGGGTTGTGGACCCAACCTCTGACTCCAAGGCCTCTCCTGAGCATCCTCCCCGCCCATCCCCTTCCAGCTGTGAGCTGTCCTGAGCCTCAGTGTCCTTGTCTGAAAAATGGGCCCATCCCAGCCCCCCAGAGGGGGTGGGTGCTTAGGGAGGCAGCGCCCGGCACCCAGTGTTGCCCGGGAAACGGCTGTCCTCCCGACACACCCAGCCAGCCTGGCCCCCTCCCCAGGGCGGGGCCGGGCTTTCCCCAGGGAACGGGTAGGCGGGGTGGGTTCCCACGCCAGGTGACAGGTGATATACGGCCAGCCATGGCCCTGCACCTCGCCAGGCACCCGCTGTTATCGGCTCCCCCCCCCCACCCCCCCCGTGCCTGCTGAGCAAACAGCCCGCTGCGGGAGGGGGCGGGTGGGCTGGGCAGCAGGCGGGGACCAAAGTCCTGGGAACAGCCCCCACCCCTCTCCCAGGCTGGGCACTGGGCCTTGGCTGGTCCTGACCCTGCCCCTGCCCCCACCCGCAGCCGGGACTGCCCCATCTTCTACATGCGCAAGAAGGTGCGGAAGGACCTGGAAGACCAGGAGCAGCTCCTGCGGCGCTTCGGACCCCCTGGACCTGAGGCCTGGTGACCTTGCAAGCATCCCATGGGGCGGGGGCGGGACCAGGGAGAATTAATAAAGTTCTGGACTTTTGCTATATGGTGCTTTGTGGTCTCTGGGGGACACTGTCTGGTTTCATAAGCCCTGGCCTTGGCTGGGACCCTCCTGAGGCCCGCACCGCCCCTCATCCTCAGCAAAAGCCCCCGGACTCCCACCTGTGCTGCCTGGTTCATGTGGGCCAAGCCTGCCTCAGTTTCCTCTCTGGCCCTGAAGGAACCCTTATACCAGCGCTTCTCTGCCCTGCTTAGGGCCCCCAGGTGTCTGGCCCCGGCCCAGCCCTCCCTGGTGATGACCCTGGGGACCCTGGTGGCTGCCCCGCCCTCCAGGTGCTGACCTGTTTCCTCCAGGCCCTGGGGCAGCCCCAGGCGCACCGGGGCTTCCACTCCTCAGCCCGGCCAAGGGGACCCCCCCATCCCCCGCCGGACCACACACCCACGATGTTTCCACGTCGGGGTCCTGGCAATGGGCTTTGGGTCTGGGTTTCCCCCCAGCGACTCCCATCTCTATCCCCGCAGCCTCTAACTGCCGTCAGATGCCCTCGGCCCTCCCGTCACCTCACACATCCCCCGGGGAGAGTCTTGTGCTTGCCCCTCGGCCCCCAGCCCGCCCCTGCTGGAATTCGGCTCCTGGGTCCAGATCCTCCGTTTCCTGATTCTCCTCTTCAGTGAACCCCAGCCCTTCCTCGATGTTTTCAGGGTTCCCCCAAATCCAGCTCCTGTCCCATCTCCAGCCCTCAAGGTCAGCCCCCCAAACCCAGCCCCACGGGGATCCCCAAATCCAGACAGCCCCTGGCCCGCCATCCCTGCCATGTGACAAAGGGGTTGTGCAATCCAGCCCCCTCCCCTGACCCCCTCCCTGAGGGGATTTTTGAGGAGGGCCGAGCTTGTGGCCAGCGGGCACCCTCCTCCCCCCGGCAGGGGCTGGGCCAAGATATAAATAGGGTTGGCGGCTGCAGCGGGCGGCAAACAGCCCGCCCGGCACCACCATGCTCGCCCTGGAGGCTGCACAGTAAGTGAGGGCCCCCAAACCTGCACCCGGGGTCCCCACCTGCACTGCCCCTCTGTGGGGCCTCACCCATGGGCAGTGGTTTCTCTGCTCCTCACGGCCGGTGGGTGGGAGTGGAGGGGAGGGGTCCACCCTGTCTCTTGCCCCTTCTGGTTCTGTTCCCTCTTCACTTCGGACTCTCCATCCCCCCAGTTCCTATCTTTCCTGGTCCCCAAAGATCTCATTTCCCCAGAACACTTGCTAGCGTGCCCTCCTGCGGGCGTCCTCCGTGGCTCTCACTCTGTCCATCCTCCTGTCTCCCCGAGTTCCCGTATCTGTTCGCTCTGTATCTGGCATCTCCCAG | benign | 309,363 |
The genetic variant at chromosome 19, position 50417278, affecting gene POLD1 (DNA polymerase delta 1, catalytic subunit): benign or pathogenic? Disease name(s) if pathogenic? | benign | GTGGTGAAGCAGTGGAAAGAGTCGGCTTGGGCAGCTGTGGGTTCAGGCCCTGCCTCTGCCACTCTGCAGCCTATGGTAGGAAGGGCCCCTCTCTGCCCTGAGCCTCAGCCCTAAGAGCTCATCCTGGTCTCCAGCCCTGAGACCCGTGGAGGCACCAGCCTGGCCCTCAGTGCCTTTTGGTGACGCTGTGCGGCCCGCTCTCCTACAGAGACCCTGAGGGCGCGGTGGCTCACGCACAGGACGTCATCTCGGACCTGCTGTGCAACCGCATCGATATCTCCCAGCTGGTCATCACCAAGGAGCTGACCCGCGCGGCCTCCGACTATGCCGGCAAGCAGGCCCACGTGGAGCTGGCCGAGAGGTCCTGCGCGGGGCGGGTGGCCTGGCCAGAAATAACCCCCTCCTTCCTGCCAGCTGGGCCCACTTCCTACACCCTCGCCCCCACCCCCGCCACCCACCTGCCCTCACCCACCCGCCACCCCATCTCCACGCAGGATGAGGAAGCGGGACCCCGGGAGTGCGCCCAGCCTGGGCGACCGCGTCCCCTACGTGATCATCAGTGCCGCCAAGGGTGTGGCCGCCTACATGAAGTCGGAGGTCAGGCCCACCTGGCTGCCTGCTCCCGCCCAGCCCCCTCGCTCTCACTTCTGCTTTCCGAGATGGGCGGGCCTGCGGGAAGGGTGGGGCCTCCCGTGCCCTGTGGGGCCCTGAGAACCGCCCCCCATGGCAGCCTGGGTGTGGCCTCGGCCCCCTCTGGAGGTCCCCCCTCTATTCTGACCCCTCCCTTGCTTCCCTATGGAAGGGGCCCCAGTCCCTCCCCTGTGCATACAGCTCCCCAGCCGGGGGTTCCCTTGGATTCATAATCCTCCAGCTCTACCCCCACCCCCAGTGACCCACATCTTAGCCCCATGACCTCTGACCTCCTGACCCCTTCCTCATCCTTGCTTCCCCTTGTGAACTCTGACCCTTCCGTGGTGACCTGAGAGCCCTACAGACTCTGTGGCCCAGAGACTCCGTGACCTCCGACCCCATCCCAGACCCAGGCCCCCCCCATGTCACAGCCCGCAGGCAGGCCTAGGCCCTAAGCCCCAGGCCCCATGACCACCCCGTGTCCACCCCGGTGCCCTTTCCCTGGCTGCCCGGGTGTGACTGCCATGTGGCCGCAGGACCCGCTGTTCGTGCTGGAGCACAGCCTGCCCATTGACACGCAGTACTACCTGGAGCAGCAGCTGGCCAAGCCCCTCCTGCGCATCTTCGAGCCCATCCTGGGCGAGGGCCGTGCCGAGGCTGTGCTACTGCGTACGGGGGCACCAGGGGACTGGGGGCACCCTGGGGGGGCAGAGGAGATCACCGGCCCACCACCTGCCTCCTCTCCTGCAGGGGGGGACCACACGCGCTGCAAGACGGTGCTCACGGGCAAGGTGGGCGGCCTCCTGGCCTTCGCCAAACGCCGCAACTGCTGCATTGGCTGCCGCACAGTGCTCAGCCACCAGGGTGAGCGGCCCTGGCCACTGGGCCCCCACTGGCCCTCAACCTGCTCTGCCGTCACCCCAGATCCTAGACACCCACCCCATCGGCTGGCACTGCCACCCAGTGGGCCCAGGGCCCCTGGGTGGGTGGCCCCTGTCTCCACCCCCCACAGAGGGTCCTCGGCCCCCACCCCGGGAGTTCCCCAGGGGAGTTTTCCCAGCACACTTGCTCCGTTGTTCTCCAGCCTCTGGGGACTTTCAGAAGCTGGGATTGGCAGTGGGCAGGGATGGGGTGGCCCAGTTCCTGGCTGGGCCCCAGCACTTGGGCTGACCCGCCTCCCCACAGGAGCCGTGTGTGAGTTCTGCCAGCCCCGGGAGTCTGAGCTGTATCAGAAGGAGGTGAGAGGGCCGGGAGGTGAGGAGGGGCCAGGTGGGGAGGCGGGGGCGCCCTGCTCAGCCGCTGCCGTCCCCAGGTATCCCATCTGAATGCCCTGGAGGAGCGCTTCTCGCGCCTCTGGACGCAGTGCCAGCGCTGCCAGGGCAGCCTGCACGAGGACGTCATCTGCACCAGGTGTGTGCCATGTCCCGACCCTGGGCTGCCCCGCCCCTTCCCAGCTCCCAGGCCTGTGGGTTGTGGACCCAACCTCTGACTCCAAGGCCTCTCCTGAGCATCCTCCCCGCCCATCCCCTTCCAGCTGTGAGCTGTCCTGAGCCTCAGTGTCCTTGTCTGAAAAATGGGCCCATCCCAGCCCCCCAGAGGGGGTGGGTGCTTAGGGAGGCAGCGCCCGGCACCCAGTGTTGCCCGGGAAACGGCTGTCCTCCCGACACACCCAGCCAGCCTGGCCCCCTCCCCAGGGCGGGGCCGGGCTTTCCCCAGGGAACGGGTAGGCGGGGTGGGTTCCCACGCCAGGTGACAGGTGATATACGGCCAGCCATGGCCCTGCACCTCGCCAGGCACCCGCTGTTATCGGCTCCCCCCCCCCACCCCCCCCGTGCCTGCTGAGCAAACAGCCCGCTGCGGGAGGGGGCGGGTGGGCTGGGCAGCAGGCGGGGACCAAAGTCCTGGGAACAGCCCCCACCCCTCTCCCAGGCTGGGCACTGGGCCTTGGCTGGTCCTGACCCTGCCCCTGCCCCCACCCGCAGCCGGGACTGCCCCATCTTCTACATGCGCAAGAAGGTGCGGAAGGACCTGGAAGACCAGGAGCAGCTCCTGCGGCGCTTCGGACCCCCTGGACCTGAGGCCTGGTGACCTTGCAAGCATCCCATGGGGCGGGGGCGGGACCAGGGAGAATTAATAAAGTTCTGGACTTTTGCTATATGGTGCTTTGTGGTCTCTGGGGGACACTGTCTGGTTTCATAAGCCCTGGCCTTGGCTGGGACCCTCCTGAGGCCCGCACCGCCCCTCATCCTCAGCAAAAGCCCCCGGACTCCCACCTGTGCTGCCTGGTTCATGTGGGCCAAGCCTGCCTCAGTTTCCTCTCTGGCCCTGAAGGAACCCTTATACCAGCGCTTCTCTGCCCTGCTTAGGGCCCCCAGGTGTCTGGCCCCGGCCCAGCCCTCCCTGGTGATGACCCTGGGGACCCTGGTGGCTGCCCCGCCCTCCAGGTGCTGACCTGTTTCCTCCAGGCCCTGGGGCAGCCCCAGGCGCACCGGGGCTTCCACTCCTCAGCCCGGCCAAGGGGACCCCCCCATCCCCCGCCGGACCACACACCCACGATGTTTCCACGTCGGGGTCCTGGCAATGGGCTTTGGGTCTGGGTTTCCCCCCAGCGACTCCCATCTCTATCCCCGCAGCCTCTAACTGCCGTCAGATGCCCTCGGCCCTCCCGTCACCTCACACATCCCCCGGGGAGAGTCTTGTGCTTGCCCCTCGGCCCCCAGCCCGCCCCTGCTGGAATTCGGCTCCTGGGTCCAGATCCTCCGTTTCCTGATTCTCCTCTTCAGTGAACCCCAGCCCTTCCTCGATGTTTTCAGGGTTCCCCCAAATCCAGCTCCTGTCCCATCTCCAGCCCTCAAGGTCAGCCCCCCAAACCCAGCCCCACGGGGATCCCCAAATCCAGACAGCCCCTGGCCCGCCATCCCTGCCATGTGACAAAGGGGTTGTGCAATCCAGCCCCCTCCCCTGACCCCCTCCCTGAGGGGATTTTTGAGGAGGGCCGAGCTTGTGGCCAGCGGGCACCCTCCTCCCCCCGGCAGGGGCTGGGCCAAGATATAAATAGGGTTGGCGGCTGCAGCGGGCGGCAAACAGCCCGCCCGGCACCACCATGCTCGCCCTGGAGGCTGCACAGTAAGTGAGGGCCCCCAAACCTGCACCCGGGGTCCCCACCTGCACTGCCCCTCTGTGGGGCCTCACCCATGGGCAGTGGTTTCTCTGCTCCTCACGGCCGGTGGGTGGGAGTGGAGGGGAGGGGTCCACCCTGTCTCTTGCCCCTTCTGGTTCTGTTCCCTCTTCACTTCGGACTCTCCATCCCCCCAGTTCCTATCTTTCCTGGTCCCCAAAGATCTCATTTCCCCAGAACACTTGCTAGCGTGCCCTCCTGCGGGCGTCCTCCGTGGCTCTCACTCTGTCCATCCTCCTGTCTCCCCGAGTTCCCGTATCTGTTCGCTCTGTATCTGGCATCTCCCAG | GTGGTGAAGCAGTGGAAAGAGTCGGCTTGGGCAGCTGTGGGTTCAGGCCCTGCCTCTGCCACTCTGCAGCCTATGGTAGGAAGGGCCCCTCTCTGCCCTGAGCCTCAGCCCTAAGAGCTCATCCTGGTCTCCAGCCCTGAGACCCGTGGAGGCACCAGCCTGGCCCTCAGTGCCTTTTGGTGACGCTGTGCGGCCCGCTCTCCTACAGAGACCCTGAGGGCGCGGTGGCTCACGCACAGGACGTCATCTCGGACCTGCTGTGCAACCGCATCGATATCTCCCAGCTGGTCATCACCAAGGAGCTGACCCGCGCGGCCTCCGACTATGCCGGCAAGCAGGCCCACGTGGAGCTGGCCGAGAGGTCCTGCGCGGGGCGGGTGGCCTGGCCAGAAATAACCCCCTCCTTCCTGCCAGCTGGGCCCACTTCCTACACCCTCGCCCCCACCCCCGCCACCCACCTGCCCTCACCCACCCGCCACCCCATCTCCACGCAGGATGAGGAAGCGGGACCCCGGGAGTGCGCCCAGCCTGGGCGACCGCGTCCCCTACGTGATCATCAGTGCCGCCAAGGGTGTGGCCGCCTACATGAAGTCGGAGGTCAGGCCCACCTGGCTGCCTGCTCCCGCCCAGCCCCCTCGCTCTCACTTCTGCTTTCCGAGATGGGCGGGCCTGCGGGAAGGGTGGGGCCTCCCGTGCCCTGTGGGGCCCTGAGAACCGCCCCCCATGGCAGCCTGGGTGTGGCCTCGGCCCCCTCTGGAGGTCCCCCCTCTATTCTGACCCCTCCCTTGCTTCCCTATGGAAGGGGCCCCAGTCCCTCCCCTGTGCATACAGCTCCCCAGCCGGGGGTTCCCTTGGATTCATAATCCTCCAGCTCTACCCCCACCCCCAGTGACCCACATCTTAGCCCCATGACCTCTGACCTCCTGACCCCTTCCTCATCCTTGCTTCCCCTTGTGAACTCTGACCCTTCCGTGGTGACCTGAGAGCCCTACAGACTCTGTGGCCCAGAGACTCCGTGACCTCCGACCCCATCCCAGACCCAGGCCCCCCCCATGTCACAGCCCGCAGGCAGGCCTAGGCCCTAAGCCCCAGGCCCCATGACCACCCCGTGTCCACCCCGGTGCCCTTTCCCTGGCTGCCCGGGTGTGACTGCCATGTGGCCGCAGGACCCGCTGTTCGTGCTGGAGCACAGCCTGCCCATTGACACGCAGTACTACCTGGAGCAGCAGCTGGCCAAGCCCCTCCTGCGCATCTTCGAGCCCATCCTGGGCGAGGGCCGTGCCGAGGCTGTGCTACTGCGTACGGGGGCACCAGGGGACTGGGGGCACCCTGGGGGGGCAGAGGAGATCACCGGCCCACCACCTGCCTCCTCTCCTGCAGGGGGGGACCACACGCGCTGCAAGACGGTGCTCACGGGCAAGGTGGGCGGCCTCCTGGCCTTCGCCAAACGCCGCAACTGCTGCATTGGCTGCCGCACAGTGCTCAGCCACCAGGGTGAGCGGCCCTGGCCACTGGGCCCCCACTGGCCCTCAACCTGCTCTGCCGTCACCCCAGATCCTAGACACCCACCCCATCGGCTGGCACTGCCACCCAGTGGGCCCAGGGCCCCTGGGTGGGTGGCCCCTGTCTCCACCCCCCACAGAGGGTCCTCGGCCCCCACCCCGGGAGTTCCCCAGGGGAGTTTTCCCAGCACACTTGCTCCGTTGTTCTCCAGCCTCTGGGGACTTTCAGAAGCTGGGATTGGCAGTGGGCAGGGATGGGGTGGCCCAGTTCCTGGCTGGGCCCCAGCACTTGGGCTGACCCGCCTCCCCACAGGAGCCGTGTGTGAGTTCTGCCAGCCCCGGGAGTCTGAGCTGTATCAGAAGGAGGTGAGAGGGCCGGGAGGTGAGGAGGGGCCAGGTGGGGAGGCGGGGGCGCCCTGCTCAGCCGCTGCCGTCCCCAGGTATCCCATCTGAATGCCCTGGAGGAGCGCTTCTCGCGCCTCTGGACGCAGTGCCAGCGCTGCCAGGGCAGCCTGCACGAGGACGTCATCTGCACCAGGTGTGTGCCACCCTGGGCTGCCCCGCCCCTTCCCAGCTCCCAGGCCTGTGGGTTGTGGACCCAACCTCTGACTCCAAGGCCTCTCCTGAGCATCCTCCCCGCCCATCCCCTTCCAGCTGTGAGCTGTCCTGAGCCTCAGTGTCCTTGTCTGAAAAATGGGCCCATCCCAGCCCCCCAGAGGGGGTGGGTGCTTAGGGAGGCAGCGCCCGGCACCCAGTGTTGCCCGGGAAACGGCTGTCCTCCCGACACACCCAGCCAGCCTGGCCCCCTCCCCAGGGCGGGGCCGGGCTTTCCCCAGGGAACGGGTAGGCGGGGTGGGTTCCCACGCCAGGTGACAGGTGATATACGGCCAGCCATGGCCCTGCACCTCGCCAGGCACCCGCTGTTATCGGCTCCCCCCCCCCACCCCCCCCGTGCCTGCTGAGCAAACAGCCCGCTGCGGGAGGGGGCGGGTGGGCTGGGCAGCAGGCGGGGACCAAAGTCCTGGGAACAGCCCCCACCCCTCTCCCAGGCTGGGCACTGGGCCTTGGCTGGTCCTGACCCTGCCCCTGCCCCCACCCGCAGCCGGGACTGCCCCATCTTCTACATGCGCAAGAAGGTGCGGAAGGACCTGGAAGACCAGGAGCAGCTCCTGCGGCGCTTCGGACCCCCTGGACCTGAGGCCTGGTGACCTTGCAAGCATCCCATGGGGCGGGGGCGGGACCAGGGAGAATTAATAAAGTTCTGGACTTTTGCTATATGGTGCTTTGTGGTCTCTGGGGGACACTGTCTGGTTTCATAAGCCCTGGCCTTGGCTGGGACCCTCCTGAGGCCCGCACCGCCCCTCATCCTCAGCAAAAGCCCCCGGACTCCCACCTGTGCTGCCTGGTTCATGTGGGCCAAGCCTGCCTCAGTTTCCTCTCTGGCCCTGAAGGAACCCTTATACCAGCGCTTCTCTGCCCTGCTTAGGGCCCCCAGGTGTCTGGCCCCGGCCCAGCCCTCCCTGGTGATGACCCTGGGGACCCTGGTGGCTGCCCCGCCCTCCAGGTGCTGACCTGTTTCCTCCAGGCCCTGGGGCAGCCCCAGGCGCACCGGGGCTTCCACTCCTCAGCCCGGCCAAGGGGACCCCCCCATCCCCCGCCGGACCACACACCCACGATGTTTCCACGTCGGGGTCCTGGCAATGGGCTTTGGGTCTGGGTTTCCCCCCAGCGACTCCCATCTCTATCCCCGCAGCCTCTAACTGCCGTCAGATGCCCTCGGCCCTCCCGTCACCTCACACATCCCCCGGGGAGAGTCTTGTGCTTGCCCCTCGGCCCCCAGCCCGCCCCTGCTGGAATTCGGCTCCTGGGTCCAGATCCTCCGTTTCCTGATTCTCCTCTTCAGTGAACCCCAGCCCTTCCTCGATGTTTTCAGGGTTCCCCCAAATCCAGCTCCTGTCCCATCTCCAGCCCTCAAGGTCAGCCCCCCAAACCCAGCCCCACGGGGATCCCCAAATCCAGACAGCCCCTGGCCCGCCATCCCTGCCATGTGACAAAGGGGTTGTGCAATCCAGCCCCCTCCCCTGACCCCCTCCCTGAGGGGATTTTTGAGGAGGGCCGAGCTTGTGGCCAGCGGGCACCCTCCTCCCCCCGGCAGGGGCTGGGCCAAGATATAAATAGGGTTGGCGGCTGCAGCGGGCGGCAAACAGCCCGCCCGGCACCACCATGCTCGCCCTGGAGGCTGCACAGTAAGTGAGGGCCCCCAAACCTGCACCCGGGGTCCCCACCTGCACTGCCCCTCTGTGGGGCCTCACCCATGGGCAGTGGTTTCTCTGCTCCTCACGGCCGGTGGGTGGGAGTGGAGGGGAGGGGTCCACCCTGTCTCTTGCCCCTTCTGGTTCTGTTCCCTCTTCACTTCGGACTCTCCATCCCCCCAGTTCCTATCTTTCCTGGTCCCCAAAGATCTCATTTCCCCAGAACACTTGCTAGCGTGCCCTCCTGCGGGCGTCCTCCGTGGCTCTCACTCTGTCCATCCTCCTGTCTCCCCGAGTTCCCGTATCTGTTCGCTCTGTATCTGGCATCTCCCAGNNNNNNNN | benign | 309,364 |
The chromosome 19, position 50417812 genetic variant in gene POLD1 (DNA polymerase delta 1, catalytic subunit): benign or pathogenic? If pathogenic, indicate disease(s). | benign | GACCGCGTCCCCTACGTGATCATCAGTGCCGCCAAGGGTGTGGCCGCCTACATGAAGTCGGAGGTCAGGCCCACCTGGCTGCCTGCTCCCGCCCAGCCCCCTCGCTCTCACTTCTGCTTTCCGAGATGGGCGGGCCTGCGGGAAGGGTGGGGCCTCCCGTGCCCTGTGGGGCCCTGAGAACCGCCCCCCATGGCAGCCTGGGTGTGGCCTCGGCCCCCTCTGGAGGTCCCCCCTCTATTCTGACCCCTCCCTTGCTTCCCTATGGAAGGGGCCCCAGTCCCTCCCCTGTGCATACAGCTCCCCAGCCGGGGGTTCCCTTGGATTCATAATCCTCCAGCTCTACCCCCACCCCCAGTGACCCACATCTTAGCCCCATGACCTCTGACCTCCTGACCCCTTCCTCATCCTTGCTTCCCCTTGTGAACTCTGACCCTTCCGTGGTGACCTGAGAGCCCTACAGACTCTGTGGCCCAGAGACTCCGTGACCTCCGACCCCATCCCAGACCCAGGCCCCCCCCATGTCACAGCCCGCAGGCAGGCCTAGGCCCTAAGCCCCAGGCCCCATGACCACCCCGTGTCCACCCCGGTGCCCTTTCCCTGGCTGCCCGGGTGTGACTGCCATGTGGCCGCAGGACCCGCTGTTCGTGCTGGAGCACAGCCTGCCCATTGACACGCAGTACTACCTGGAGCAGCAGCTGGCCAAGCCCCTCCTGCGCATCTTCGAGCCCATCCTGGGCGAGGGCCGTGCCGAGGCTGTGCTACTGCGTACGGGGGCACCAGGGGACTGGGGGCACCCTGGGGGGGCAGAGGAGATCACCGGCCCACCACCTGCCTCCTCTCCTGCAGGGGGGGACCACACGCGCTGCAAGACGGTGCTCACGGGCAAGGTGGGCGGCCTCCTGGCCTTCGCCAAACGCCGCAACTGCTGCATTGGCTGCCGCACAGTGCTCAGCCACCAGGGTGAGCGGCCCTGGCCACTGGGCCCCCACTGGCCCTCAACCTGCTCTGCCGTCACCCCAGATCCTAGACACCCACCCCATCGGCTGGCACTGCCACCCAGTGGGCCCAGGGCCCCTGGGTGGGTGGCCCCTGTCTCCACCCCCCACAGAGGGTCCTCGGCCCCCACCCCGGGAGTTCCCCAGGGGAGTTTTCCCAGCACACTTGCTCCGTTGTTCTCCAGCCTCTGGGGACTTTCAGAAGCTGGGATTGGCAGTGGGCAGGGATGGGGTGGCCCAGTTCCTGGCTGGGCCCCAGCACTTGGGCTGACCCGCCTCCCCACAGGAGCCGTGTGTGAGTTCTGCCAGCCCCGGGAGTCTGAGCTGTATCAGAAGGAGGTGAGAGGGCCGGGAGGTGAGGAGGGGCCAGGTGGGGAGGCGGGGGCGCCCTGCTCAGCCGCTGCCGTCCCCAGGTATCCCATCTGAATGCCCTGGAGGAGCGCTTCTCGCGCCTCTGGACGCAGTGCCAGCGCTGCCAGGGCAGCCTGCACGAGGACGTCATCTGCACCAGGTGTGTGCCATGTCCCGACCCTGGGCTGCCCCGCCCCTTCCCAGCTCCCAGGCCTGTGGGTTGTGGACCCAACCTCTGACTCCAAGGCCTCTCCTGAGCATCCTCCCCGCCCATCCCCTTCCAGCTGTGAGCTGTCCTGAGCCTCAGTGTCCTTGTCTGAAAAATGGGCCCATCCCAGCCCCCCAGAGGGGGTGGGTGCTTAGGGAGGCAGCGCCCGGCACCCAGTGTTGCCCGGGAAACGGCTGTCCTCCCGACACACCCAGCCAGCCTGGCCCCCTCCCCAGGGCGGGGCCGGGCTTTCCCCAGGGAACGGGTAGGCGGGGTGGGTTCCCACGCCAGGTGACAGGTGATATACGGCCAGCCATGGCCCTGCACCTCGCCAGGCACCCGCTGTTATCGGCTCCCCCCCCCCACCCCCCCCGTGCCTGCTGAGCAAACAGCCCGCTGCGGGAGGGGGCGGGTGGGCTGGGCAGCAGGCGGGGACCAAAGTCCTGGGAACAGCCCCCACCCCTCTCCCAGGCTGGGCACTGGGCCTTGGCTGGTCCTGACCCTGCCCCTGCCCCCACCCGCAGCCGGGACTGCCCCATCTTCTACATGCGCAAGAAGGTGCGGAAGGACCTGGAAGACCAGGAGCAGCTCCTGCGGCGCTTCGGACCCCCTGGACCTGAGGCCTGGTGACCTTGCAAGCATCCCATGGGGCGGGGGCGGGACCAGGGAGAATTAATAAAGTTCTGGACTTTTGCTATATGGTGCTTTGTGGTCTCTGGGGGACACTGTCTGGTTTCATAAGCCCTGGCCTTGGCTGGGACCCTCCTGAGGCCCGCACCGCCCCTCATCCTCAGCAAAAGCCCCCGGACTCCCACCTGTGCTGCCTGGTTCATGTGGGCCAAGCCTGCCTCAGTTTCCTCTCTGGCCCTGAAGGAACCCTTATACCAGCGCTTCTCTGCCCTGCTTAGGGCCCCCAGGTGTCTGGCCCCGGCCCAGCCCTCCCTGGTGATGACCCTGGGGACCCTGGTGGCTGCCCCGCCCTCCAGGTGCTGACCTGTTTCCTCCAGGCCCTGGGGCAGCCCCAGGCGCACCGGGGCTTCCACTCCTCAGCCCGGCCAAGGGGACCCCCCCATCCCCCGCCGGACCACACACCCACGATGTTTCCACGTCGGGGTCCTGGCAATGGGCTTTGGGTCTGGGTTTCCCCCCAGCGACTCCCATCTCTATCCCCGCAGCCTCTAACTGCCGTCAGATGCCCTCGGCCCTCCCGTCACCTCACACATCCCCCGGGGAGAGTCTTGTGCTTGCCCCTCGGCCCCCAGCCCGCCCCTGCTGGAATTCGGCTCCTGGGTCCAGATCCTCCGTTTCCTGATTCTCCTCTTCAGTGAACCCCAGCCCTTCCTCGATGTTTTCAGGGTTCCCCCAAATCCAGCTCCTGTCCCATCTCCAGCCCTCAAGGTCAGCCCCCCAAACCCAGCCCCACGGGGATCCCCAAATCCAGACAGCCCCTGGCCCGCCATCCCTGCCATGTGACAAAGGGGTTGTGCAATCCAGCCCCCTCCCCTGACCCCCTCCCTGAGGGGATTTTTGAGGAGGGCCGAGCTTGTGGCCAGCGGGCACCCTCCTCCCCCCGGCAGGGGCTGGGCCAAGATATAAATAGGGTTGGCGGCTGCAGCGGGCGGCAAACAGCCCGCCCGGCACCACCATGCTCGCCCTGGAGGCTGCACAGTAAGTGAGGGCCCCCAAACCTGCACCCGGGGTCCCCACCTGCACTGCCCCTCTGTGGGGCCTCACCCATGGGCAGTGGTTTCTCTGCTCCTCACGGCCGGTGGGTGGGAGTGGAGGGGAGGGGTCCACCCTGTCTCTTGCCCCTTCTGGTTCTGTTCCCTCTTCACTTCGGACTCTCCATCCCCCCAGTTCCTATCTTTCCTGGTCCCCAAAGATCTCATTTCCCCAGAACACTTGCTAGCGTGCCCTCCTGCGGGCGTCCTCCGTGGCTCTCACTCTGTCCATCCTCCTGTCTCCCCGAGTTCCCGTATCTGTTCGCTCTGTATCTGGCATCTCCCAGCTCTCAACATTCTGCCTGTTGCTCTCTGTCTCTCTGCCTGTCTCTGTGTCTCTGTCTCCAGTTCTCGCTCTCCCTGCCTTTTGGTCTCCTTCTGCCTCACCCTCACTCTCAGTGCCTCCATCTGGGGCTCCAGGAATCCTCCCCGCCTCTGTGCGTGAATGTCCCTTTGCACACCTTTCTCTGTGTCCCACCTCTCCTTGAGCCTCCTCATCTGAGTCTTCTCCGGGCTTCCCCCTCTCTACCCAGACATCTCTCCATCCTTCTCCTCTGGTCCAAGCTGGACTCAACTGACTCGCCACCAAGGCCGCACTTGACCCAGGCCCCCTCTCCATCCCCACACCTCCTTTCCGGGACTTTCTCTCCCTCACTTTCCCTGCCCCTCCCCACCAGGGTGTCTATGCAAATTCTGGGGAGGAGGGGGACATTTGCCTCCCCCCCACCCCCCACTTCCTGTCCCAGCAGGGGGTAGTGGGGGAGTCCGGTGAATGTGGTGGGGCTGGTCCCTCACACAGGGCTGCGGTGGTCACAGCTGCT | GACCGCGTCCCCTACGTGATCATCAGTGCCGCCAAGGGTGTGGCCGCCTACATGAAGTCGGAGGTCAGGCCCACCTGGCTGCCTGCTCCCGCCCAGCCCCCTCGCTCTCACTTCTGCTTTCCGAGATGGGCGGGCCTGCGGGAAGGGTGGGGCCTCCCGTGCCCTGTGGGGCCCTGAGAACCGCCCCCCATGGCAGCCTGGGTGTGGCCTCGGCCCCCTCTGGAGGTCCCCCCTCTATTCTGACCCCTCCCTTGCTTCCCTATGGAAGGGGCCCCAGTCCCTCCCCTGTGCATACAGCTCCCCAGCCGGGGGTTCCCTTGGATTCATAATCCTCCAGCTCTACCCCCACCCCCAGTGACCCACATCTTAGCCCCATGACCTCTGACCTCCTGACCCCTTCCTCATCCTTGCTTCCCCTTGTGAACTCTGACCCTTCCGTGGTGACCTGAGAGCCCTACAGACTCTGTGGCCCAGAGACTCCGTGACCTCCGACCCCATCCCAGACCCAGGCCCCCCCCATGTCACAGCCCGCAGGCAGGCCTAGGCCCTAAGCCCCAGGCCCCATGACCACCCCGTGTCCACCCCGGTGCCCTTTCCCTGGCTGCCCGGGTGTGACTGCCATGTGGCCGCAGGACCCGCTGTTCGTGCTGGAGCACAGCCTGCCCATTGACACGCAGTACTACCTGGAGCAGCAGCTGGCCAAGCCCCTCCTGCGCATCTTCGAGCCCATCCTGGGCGAGGGCCGTGCCGAGGCTGTGCTACTGCGTACGGGGGCACCAGGGGACTGGGGGCACCCTGGGGGGGCAGAGGAGATCACCGGCCCACCACCTGCCTCCTCTCCTGCAGGGGGGGACCACACGCGCTGCAAGACGGTGCTCACGGGCAAGGTGGGCGGCCTCCTGGCCTTCGCCAAACGCCGCAACTGCTGCATTGGCTGCCGCACAGTGCTCAGCCACCAGGGTGAGCGGCCCTGGCCACTGGGCCCCCACTGGCCCTCAACCTGCTCTGCCGTCACCCCAGATCCTAGACACCCACCCCATCGGCTGGCACTGCCACCCAGTGGGCCCAGGGCCCCTGGGTGGGTGGCCCCTGTCTCCACCCCCCACAGAGGGTCCTCGGCCCCCACCCCGGGAGTTCCCCAGGGGAGTTTTCCCAGCACACTTGCTCCGTTGTTCTCCAGCCTCTGGGGACTTTCAGAAGCTGGGATTGGCAGTGGGCAGGGATGGGGTGGCCCAGTTCCTGGCTGGGCCCCAGCACTTGGGCTGACCCGCCTCCCCACAGGAGCCGTGTGTGAGTTCTGCCAGCCCCGGGAGTCTGAGCTGTATCAGAAGGAGGTGAGAGGGCCGGGAGGTGAGGAGGGGCCAGGTGGGGAGGCGGGGGCGCCCTGCTCAGCCGCTGCCGTCCCCAGGTATCCCATCTGAATGCCCTGGAGGAGCGCTTCTCGCGCCTCTGGACGCAGTGCCAGCGCTGCCAGGGCAGCCTGCACGAGGACGTCATCTGCACCAGGTGTGTGCCATGTCCCGACCCTGGGCTGCCCCGCCCCTTCCCAGCTCCCAGGCCTGTGGGTTGTGGACCCAACCTCTGACTCCAAGGCCTCTCCTGAGCATCCTCCCCGCCCATCCCCTTCCAGCTGTGAGCTGTCCTGAGCCTCAGTGTCCTTGTCTGAAAAATGGGCCCATCCCAGCCCCCCAGAGGGGGTGGGTGCTTAGGGAGGCAGCGCCCGGCACCCAGTGTTGCCCGGGAAACGGCTGTCCTCCCGACACACCCAGCCAGCCTGGCCCCCTCCCCAGGGCGGGGCCGGGCTTTCCCCAGGGAACGGGTAGGCGGGGTGGGTTCCCACGCCAGGTGACAGGTGATATACGGCCAGCCATGGCCCTGCACCTCGCCAGGCACCCGCTGTTATCGGCTCCCCCCCCCCACCCCCCCCGTGCCTGCTGAGCAAACAGCCCGCTGCGGGAGGGGGCGGGTGGGCTGGGCAGCAGGCGGGGACCAAAGTCCTGGGAACAGCCCCCACCCCTCTCCCAGGCTGGGCACTGGGCCTTGGCTGGTCCTGACCCTGACCCTGCCCCTGCCCCCACCCGCAGCCGGGACTGCCCCATCTTCTACATGCGCAAGAAGGTGCGGAAGGACCTGGAAGACCAGGAGCAGCTCCTGCGGCGCTTCGGACCCCCTGGACCTGAGGCCTGGTGACCTTGCAAGCATCCCATGGGGCGGGGGCGGGACCAGGGAGAATTAATAAAGTTCTGGACTTTTGCTATATGGTGCTTTGTGGTCTCTGGGGGACACTGTCTGGTTTCATAAGCCCTGGCCTTGGCTGGGACCCTCCTGAGGCCCGCACCGCCCCTCATCCTCAGCAAAAGCCCCCGGACTCCCACCTGTGCTGCCTGGTTCATGTGGGCCAAGCCTGCCTCAGTTTCCTCTCTGGCCCTGAAGGAACCCTTATACCAGCGCTTCTCTGCCCTGCTTAGGGCCCCCAGGTGTCTGGCCCCGGCCCAGCCCTCCCTGGTGATGACCCTGGGGACCCTGGTGGCTGCCCCGCCCTCCAGGTGCTGACCTGTTTCCTCCAGGCCCTGGGGCAGCCCCAGGCGCACCGGGGCTTCCACTCCTCAGCCCGGCCAAGGGGACCCCCCCATCCCCCGCCGGACCACACACCCACGATGTTTCCACGTCGGGGTCCTGGCAATGGGCTTTGGGTCTGGGTTTCCCCCCAGCGACTCCCATCTCTATCCCCGCAGCCTCTAACTGCCGTCAGATGCCCTCGGCCCTCCCGTCACCTCACACATCCCCCGGGGAGAGTCTTGTGCTTGCCCCTCGGCCCCCAGCCCGCCCCTGCTGGAATTCGGCTCCTGGGTCCAGATCCTCCGTTTCCTGATTCTCCTCTTCAGTGAACCCCAGCCCTTCCTCGATGTTTTCAGGGTTCCCCCAAATCCAGCTCCTGTCCCATCTCCAGCCCTCAAGGTCAGCCCCCCAAACCCAGCCCCACGGGGATCCCCAAATCCAGACAGCCCCTGGCCCGCCATCCCTGCCATGTGACAAAGGGGTTGTGCAATCCAGCCCCCTCCCCTGACCCCCTCCCTGAGGGGATTTTTGAGGAGGGCCGAGCTTGTGGCCAGCGGGCACCCTCCTCCCCCCGGCAGGGGCTGGGCCAAGATATAAATAGGGTTGGCGGCTGCAGCGGGCGGCAAACAGCCCGCCCGGCACCACCATGCTCGCCCTGGAGGCTGCACAGTAAGTGAGGGCCCCCAAACCTGCACCCGGGGTCCCCACCTGCACTGCCCCTCTGTGGGGCCTCACCCATGGGCAGTGGTTTCTCTGCTCCTCACGGCCGGTGGGTGGGAGTGGAGGGGAGGGGTCCACCCTGTCTCTTGCCCCTTCTGGTTCTGTTCCCTCTTCACTTCGGACTCTCCATCCCCCCAGTTCCTATCTTTCCTGGTCCCCAAAGATCTCATTTCCCCAGAACACTTGCTAGCGTGCCCTCCTGCGGGCGTCCTCCGTGGCTCTCACTCTGTCCATCCTCCTGTCTCCCCGAGTTCCCGTATCTGTTCGCTCTGTATCTGGCATCTCCCAGCTCTCAACATTCTGCCTGTTGCTCTCTGTCTCTCTGCCTGTCTCTGTGTCTCTGTCTCCAGTTCTCGCTCTCCCTGCCTTTTGGTCTCCTTCTGCCTCACCCTCACTCTCAGTGCCTCCATCTGGGGCTCCAGGAATCCTCCCCGCCTCTGTGCGTGAATGTCCCTTTGCACACCTTTCTCTGTGTCCCACCTCTCCTTGAGCCTCCTCATCTGAGTCTTCTCCGGGCTTCCCCCTCTCTACCCAGACATCTCTCCATCCTTCTCCTCTGGTCCAAGCTGGACTCAACTGACTCGCCACCAAGGCCGCACTTGACCCAGGCCCCCTCTCCATCCCCACACCTCCTTTCCGGGACTTTCTCTCCCTCACTTTCCCTGCCCCTCCCCACCAGGGTGTCTATGCAAATTCTGGGGAGGAGGGGGACATTTGCCTCCCCCCCACCCCCCACTTCCTGTCCCAGCAGGGGGTAGTGGGGGAGTCCGGTGAATGTGGTGGGGCTGGTCCCTCACACAGGGCTGCGGTGGTCACA | benign | 309,371 |
Is the genetic change at chromosome 19, position 50417817, within gene POLD1 (DNA polymerase delta 1, catalytic subunit) benign or pathogenic? Name the disease(s) if pathogenic. | benign | CGTCCCCTACGTGATCATCAGTGCCGCCAAGGGTGTGGCCGCCTACATGAAGTCGGAGGTCAGGCCCACCTGGCTGCCTGCTCCCGCCCAGCCCCCTCGCTCTCACTTCTGCTTTCCGAGATGGGCGGGCCTGCGGGAAGGGTGGGGCCTCCCGTGCCCTGTGGGGCCCTGAGAACCGCCCCCCATGGCAGCCTGGGTGTGGCCTCGGCCCCCTCTGGAGGTCCCCCCTCTATTCTGACCCCTCCCTTGCTTCCCTATGGAAGGGGCCCCAGTCCCTCCCCTGTGCATACAGCTCCCCAGCCGGGGGTTCCCTTGGATTCATAATCCTCCAGCTCTACCCCCACCCCCAGTGACCCACATCTTAGCCCCATGACCTCTGACCTCCTGACCCCTTCCTCATCCTTGCTTCCCCTTGTGAACTCTGACCCTTCCGTGGTGACCTGAGAGCCCTACAGACTCTGTGGCCCAGAGACTCCGTGACCTCCGACCCCATCCCAGACCCAGGCCCCCCCCATGTCACAGCCCGCAGGCAGGCCTAGGCCCTAAGCCCCAGGCCCCATGACCACCCCGTGTCCACCCCGGTGCCCTTTCCCTGGCTGCCCGGGTGTGACTGCCATGTGGCCGCAGGACCCGCTGTTCGTGCTGGAGCACAGCCTGCCCATTGACACGCAGTACTACCTGGAGCAGCAGCTGGCCAAGCCCCTCCTGCGCATCTTCGAGCCCATCCTGGGCGAGGGCCGTGCCGAGGCTGTGCTACTGCGTACGGGGGCACCAGGGGACTGGGGGCACCCTGGGGGGGCAGAGGAGATCACCGGCCCACCACCTGCCTCCTCTCCTGCAGGGGGGGACCACACGCGCTGCAAGACGGTGCTCACGGGCAAGGTGGGCGGCCTCCTGGCCTTCGCCAAACGCCGCAACTGCTGCATTGGCTGCCGCACAGTGCTCAGCCACCAGGGTGAGCGGCCCTGGCCACTGGGCCCCCACTGGCCCTCAACCTGCTCTGCCGTCACCCCAGATCCTAGACACCCACCCCATCGGCTGGCACTGCCACCCAGTGGGCCCAGGGCCCCTGGGTGGGTGGCCCCTGTCTCCACCCCCCACAGAGGGTCCTCGGCCCCCACCCCGGGAGTTCCCCAGGGGAGTTTTCCCAGCACACTTGCTCCGTTGTTCTCCAGCCTCTGGGGACTTTCAGAAGCTGGGATTGGCAGTGGGCAGGGATGGGGTGGCCCAGTTCCTGGCTGGGCCCCAGCACTTGGGCTGACCCGCCTCCCCACAGGAGCCGTGTGTGAGTTCTGCCAGCCCCGGGAGTCTGAGCTGTATCAGAAGGAGGTGAGAGGGCCGGGAGGTGAGGAGGGGCCAGGTGGGGAGGCGGGGGCGCCCTGCTCAGCCGCTGCCGTCCCCAGGTATCCCATCTGAATGCCCTGGAGGAGCGCTTCTCGCGCCTCTGGACGCAGTGCCAGCGCTGCCAGGGCAGCCTGCACGAGGACGTCATCTGCACCAGGTGTGTGCCATGTCCCGACCCTGGGCTGCCCCGCCCCTTCCCAGCTCCCAGGCCTGTGGGTTGTGGACCCAACCTCTGACTCCAAGGCCTCTCCTGAGCATCCTCCCCGCCCATCCCCTTCCAGCTGTGAGCTGTCCTGAGCCTCAGTGTCCTTGTCTGAAAAATGGGCCCATCCCAGCCCCCCAGAGGGGGTGGGTGCTTAGGGAGGCAGCGCCCGGCACCCAGTGTTGCCCGGGAAACGGCTGTCCTCCCGACACACCCAGCCAGCCTGGCCCCCTCCCCAGGGCGGGGCCGGGCTTTCCCCAGGGAACGGGTAGGCGGGGTGGGTTCCCACGCCAGGTGACAGGTGATATACGGCCAGCCATGGCCCTGCACCTCGCCAGGCACCCGCTGTTATCGGCTCCCCCCCCCCACCCCCCCCGTGCCTGCTGAGCAAACAGCCCGCTGCGGGAGGGGGCGGGTGGGCTGGGCAGCAGGCGGGGACCAAAGTCCTGGGAACAGCCCCCACCCCTCTCCCAGGCTGGGCACTGGGCCTTGGCTGGTCCTGACCCTGCCCCTGCCCCCACCCGCAGCCGGGACTGCCCCATCTTCTACATGCGCAAGAAGGTGCGGAAGGACCTGGAAGACCAGGAGCAGCTCCTGCGGCGCTTCGGACCCCCTGGACCTGAGGCCTGGTGACCTTGCAAGCATCCCATGGGGCGGGGGCGGGACCAGGGAGAATTAATAAAGTTCTGGACTTTTGCTATATGGTGCTTTGTGGTCTCTGGGGGACACTGTCTGGTTTCATAAGCCCTGGCCTTGGCTGGGACCCTCCTGAGGCCCGCACCGCCCCTCATCCTCAGCAAAAGCCCCCGGACTCCCACCTGTGCTGCCTGGTTCATGTGGGCCAAGCCTGCCTCAGTTTCCTCTCTGGCCCTGAAGGAACCCTTATACCAGCGCTTCTCTGCCCTGCTTAGGGCCCCCAGGTGTCTGGCCCCGGCCCAGCCCTCCCTGGTGATGACCCTGGGGACCCTGGTGGCTGCCCCGCCCTCCAGGTGCTGACCTGTTTCCTCCAGGCCCTGGGGCAGCCCCAGGCGCACCGGGGCTTCCACTCCTCAGCCCGGCCAAGGGGACCCCCCCATCCCCCGCCGGACCACACACCCACGATGTTTCCACGTCGGGGTCCTGGCAATGGGCTTTGGGTCTGGGTTTCCCCCCAGCGACTCCCATCTCTATCCCCGCAGCCTCTAACTGCCGTCAGATGCCCTCGGCCCTCCCGTCACCTCACACATCCCCCGGGGAGAGTCTTGTGCTTGCCCCTCGGCCCCCAGCCCGCCCCTGCTGGAATTCGGCTCCTGGGTCCAGATCCTCCGTTTCCTGATTCTCCTCTTCAGTGAACCCCAGCCCTTCCTCGATGTTTTCAGGGTTCCCCCAAATCCAGCTCCTGTCCCATCTCCAGCCCTCAAGGTCAGCCCCCCAAACCCAGCCCCACGGGGATCCCCAAATCCAGACAGCCCCTGGCCCGCCATCCCTGCCATGTGACAAAGGGGTTGTGCAATCCAGCCCCCTCCCCTGACCCCCTCCCTGAGGGGATTTTTGAGGAGGGCCGAGCTTGTGGCCAGCGGGCACCCTCCTCCCCCCGGCAGGGGCTGGGCCAAGATATAAATAGGGTTGGCGGCTGCAGCGGGCGGCAAACAGCCCGCCCGGCACCACCATGCTCGCCCTGGAGGCTGCACAGTAAGTGAGGGCCCCCAAACCTGCACCCGGGGTCCCCACCTGCACTGCCCCTCTGTGGGGCCTCACCCATGGGCAGTGGTTTCTCTGCTCCTCACGGCCGGTGGGTGGGAGTGGAGGGGAGGGGTCCACCCTGTCTCTTGCCCCTTCTGGTTCTGTTCCCTCTTCACTTCGGACTCTCCATCCCCCCAGTTCCTATCTTTCCTGGTCCCCAAAGATCTCATTTCCCCAGAACACTTGCTAGCGTGCCCTCCTGCGGGCGTCCTCCGTGGCTCTCACTCTGTCCATCCTCCTGTCTCCCCGAGTTCCCGTATCTGTTCGCTCTGTATCTGGCATCTCCCAGCTCTCAACATTCTGCCTGTTGCTCTCTGTCTCTCTGCCTGTCTCTGTGTCTCTGTCTCCAGTTCTCGCTCTCCCTGCCTTTTGGTCTCCTTCTGCCTCACCCTCACTCTCAGTGCCTCCATCTGGGGCTCCAGGAATCCTCCCCGCCTCTGTGCGTGAATGTCCCTTTGCACACCTTTCTCTGTGTCCCACCTCTCCTTGAGCCTCCTCATCTGAGTCTTCTCCGGGCTTCCCCCTCTCTACCCAGACATCTCTCCATCCTTCTCCTCTGGTCCAAGCTGGACTCAACTGACTCGCCACCAAGGCCGCACTTGACCCAGGCCCCCTCTCCATCCCCACACCTCCTTTCCGGGACTTTCTCTCCCTCACTTTCCCTGCCCCTCCCCACCAGGGTGTCTATGCAAATTCTGGGGAGGAGGGGGACATTTGCCTCCCCCCCACCCCCCACTTCCTGTCCCAGCAGGGGGTAGTGGGGGAGTCCGGTGAATGTGGTGGGGCTGGTCCCTCACACAGGGCTGCGGTGGTCACAGCTGCTGCCGC | CGTCCCCTACGTGATCATCAGTGCCGCCAAGGGTGTGGCCGCCTACATGAAGTCGGAGGTCAGGCCCACCTGGCTGCCTGCTCCCGCCCAGCCCCCTCGCTCTCACTTCTGCTTTCCGAGATGGGCGGGCCTGCGGGAAGGGTGGGGCCTCCCGTGCCCTGTGGGGCCCTGAGAACCGCCCCCCATGGCAGCCTGGGTGTGGCCTCGGCCCCCTCTGGAGGTCCCCCCTCTATTCTGACCCCTCCCTTGCTTCCCTATGGAAGGGGCCCCAGTCCCTCCCCTGTGCATACAGCTCCCCAGCCGGGGGTTCCCTTGGATTCATAATCCTCCAGCTCTACCCCCACCCCCAGTGACCCACATCTTAGCCCCATGACCTCTGACCTCCTGACCCCTTCCTCATCCTTGCTTCCCCTTGTGAACTCTGACCCTTCCGTGGTGACCTGAGAGCCCTACAGACTCTGTGGCCCAGAGACTCCGTGACCTCCGACCCCATCCCAGACCCAGGCCCCCCCCATGTCACAGCCCGCAGGCAGGCCTAGGCCCTAAGCCCCAGGCCCCATGACCACCCCGTGTCCACCCCGGTGCCCTTTCCCTGGCTGCCCGGGTGTGACTGCCATGTGGCCGCAGGACCCGCTGTTCGTGCTGGAGCACAGCCTGCCCATTGACACGCAGTACTACCTGGAGCAGCAGCTGGCCAAGCCCCTCCTGCGCATCTTCGAGCCCATCCTGGGCGAGGGCCGTGCCGAGGCTGTGCTACTGCGTACGGGGGCACCAGGGGACTGGGGGCACCCTGGGGGGGCAGAGGAGATCACCGGCCCACCACCTGCCTCCTCTCCTGCAGGGGGGGACCACACGCGCTGCAAGACGGTGCTCACGGGCAAGGTGGGCGGCCTCCTGGCCTTCGCCAAACGCCGCAACTGCTGCATTGGCTGCCGCACAGTGCTCAGCCACCAGGGTGAGCGGCCCTGGCCACTGGGCCCCCACTGGCCCTCAACCTGCTCTGCCGTCACCCCAGATCCTAGACACCCACCCCATCGGCTGGCACTGCCACCCAGTGGGCCCAGGGCCCCTGGGTGGGTGGCCCCTGTCTCCACCCCCCACAGAGGGTCCTCGGCCCCCACCCCGGGAGTTCCCCAGGGGAGTTTTCCCAGCACACTTGCTCCGTTGTTCTCCAGCCTCTGGGGACTTTCAGAAGCTGGGATTGGCAGTGGGCAGGGATGGGGTGGCCCAGTTCCTGGCTGGGCCCCAGCACTTGGGCTGACCCGCCTCCCCACAGGAGCCGTGTGTGAGTTCTGCCAGCCCCGGGAGTCTGAGCTGTATCAGAAGGAGGTGAGAGGGCCGGGAGGTGAGGAGGGGCCAGGTGGGGAGGCGGGGGCGCCCTGCTCAGCCGCTGCCGTCCCCAGGTATCCCATCTGAATGCCCTGGAGGAGCGCTTCTCGCGCCTCTGGACGCAGTGCCAGCGCTGCCAGGGCAGCCTGCACGAGGACGTCATCTGCACCAGGTGTGTGCCATGTCCCGACCCTGGGCTGCCCCGCCCCTTCCCAGCTCCCAGGCCTGTGGGTTGTGGACCCAACCTCTGACTCCAAGGCCTCTCCTGAGCATCCTCCCCGCCCATCCCCTTCCAGCTGTGAGCTGTCCTGAGCCTCAGTGTCCTTGTCTGAAAAATGGGCCCATCCCAGCCCCCCAGAGGGGGTGGGTGCTTAGGGAGGCAGCGCCCGGCACCCAGTGTTGCCCGGGAAACGGCTGTCCTCCCGACACACCCAGCCAGCCTGGCCCCCTCCCCAGGGCGGGGCCGGGCTTTCCCCAGGGAACGGGTAGGCGGGGTGGGTTCCCACGCCAGGTGACAGGTGATATACGGCCAGCCATGGCCCTGCACCTCGCCAGGCACCCGCTGTTATCGGCTCCCCCCCCCCACCCCCCCCGTGCCTGCTGAGCAAACAGCCCGCTGCGGGAGGGGGCGGGTGGGCTGGGCAGCAGGCGGGGACCAAAGTCCTGGGAACAGCCCCCACCCCTCTCCCAGGCTGGGCACTGGGCCTTGGCTGGTCCTGACCCTGCCCCTGCCCCTGCCCCCACCCGCAGCCGGGACTGCCCCATCTTCTACATGCGCAAGAAGGTGCGGAAGGACCTGGAAGACCAGGAGCAGCTCCTGCGGCGCTTCGGACCCCCTGGACCTGAGGCCTGGTGACCTTGCAAGCATCCCATGGGGCGGGGGCGGGACCAGGGAGAATTAATAAAGTTCTGGACTTTTGCTATATGGTGCTTTGTGGTCTCTGGGGGACACTGTCTGGTTTCATAAGCCCTGGCCTTGGCTGGGACCCTCCTGAGGCCCGCACCGCCCCTCATCCTCAGCAAAAGCCCCCGGACTCCCACCTGTGCTGCCTGGTTCATGTGGGCCAAGCCTGCCTCAGTTTCCTCTCTGGCCCTGAAGGAACCCTTATACCAGCGCTTCTCTGCCCTGCTTAGGGCCCCCAGGTGTCTGGCCCCGGCCCAGCCCTCCCTGGTGATGACCCTGGGGACCCTGGTGGCTGCCCCGCCCTCCAGGTGCTGACCTGTTTCCTCCAGGCCCTGGGGCAGCCCCAGGCGCACCGGGGCTTCCACTCCTCAGCCCGGCCAAGGGGACCCCCCCATCCCCCGCCGGACCACACACCCACGATGTTTCCACGTCGGGGTCCTGGCAATGGGCTTTGGGTCTGGGTTTCCCCCCAGCGACTCCCATCTCTATCCCCGCAGCCTCTAACTGCCGTCAGATGCCCTCGGCCCTCCCGTCACCTCACACATCCCCCGGGGAGAGTCTTGTGCTTGCCCCTCGGCCCCCAGCCCGCCCCTGCTGGAATTCGGCTCCTGGGTCCAGATCCTCCGTTTCCTGATTCTCCTCTTCAGTGAACCCCAGCCCTTCCTCGATGTTTTCAGGGTTCCCCCAAATCCAGCTCCTGTCCCATCTCCAGCCCTCAAGGTCAGCCCCCCAAACCCAGCCCCACGGGGATCCCCAAATCCAGACAGCCCCTGGCCCGCCATCCCTGCCATGTGACAAAGGGGTTGTGCAATCCAGCCCCCTCCCCTGACCCCCTCCCTGAGGGGATTTTTGAGGAGGGCCGAGCTTGTGGCCAGCGGGCACCCTCCTCCCCCCGGCAGGGGCTGGGCCAAGATATAAATAGGGTTGGCGGCTGCAGCGGGCGGCAAACAGCCCGCCCGGCACCACCATGCTCGCCCTGGAGGCTGCACAGTAAGTGAGGGCCCCCAAACCTGCACCCGGGGTCCCCACCTGCACTGCCCCTCTGTGGGGCCTCACCCATGGGCAGTGGTTTCTCTGCTCCTCACGGCCGGTGGGTGGGAGTGGAGGGGAGGGGTCCACCCTGTCTCTTGCCCCTTCTGGTTCTGTTCCCTCTTCACTTCGGACTCTCCATCCCCCCAGTTCCTATCTTTCCTGGTCCCCAAAGATCTCATTTCCCCAGAACACTTGCTAGCGTGCCCTCCTGCGGGCGTCCTCCGTGGCTCTCACTCTGTCCATCCTCCTGTCTCCCCGAGTTCCCGTATCTGTTCGCTCTGTATCTGGCATCTCCCAGCTCTCAACATTCTGCCTGTTGCTCTCTGTCTCTCTGCCTGTCTCTGTGTCTCTGTCTCCAGTTCTCGCTCTCCCTGCCTTTTGGTCTCCTTCTGCCTCACCCTCACTCTCAGTGCCTCCATCTGGGGCTCCAGGAATCCTCCCCGCCTCTGTGCGTGAATGTCCCTTTGCACACCTTTCTCTGTGTCCCACCTCTCCTTGAGCCTCCTCATCTGAGTCTTCTCCGGGCTTCCCCCTCTCTACCCAGACATCTCTCCATCCTTCTCCTCTGGTCCAAGCTGGACTCAACTGACTCGCCACCAAGGCCGCACTTGACCCAGGCCCCCTCTCCATCCCCACACCTCCTTTCCGGGACTTTCTCTCCCTCACTTTCCCTGCCCCTCCCCACCAGGGTGTCTATGCAAATTCTGGGGAGGAGGGGGACATTTGCCTCCCCCCCACCCCCCACTTCCTGTCCCAGCAGGGGGTAGTGGGGGAGTCCGGTGAATGTGGTGGGGCTGGTCCCTCACACAGGGCTGCGGTGGTCACAGCTGC | benign | 309,372 |
The mutation impacting POLD1 (DNA polymerase delta 1, catalytic subunit) on chromosome 19 at position 50417817: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | CGTCCCCTACGTGATCATCAGTGCCGCCAAGGGTGTGGCCGCCTACATGAAGTCGGAGGTCAGGCCCACCTGGCTGCCTGCTCCCGCCCAGCCCCCTCGCTCTCACTTCTGCTTTCCGAGATGGGCGGGCCTGCGGGAAGGGTGGGGCCTCCCGTGCCCTGTGGGGCCCTGAGAACCGCCCCCCATGGCAGCCTGGGTGTGGCCTCGGCCCCCTCTGGAGGTCCCCCCTCTATTCTGACCCCTCCCTTGCTTCCCTATGGAAGGGGCCCCAGTCCCTCCCCTGTGCATACAGCTCCCCAGCCGGGGGTTCCCTTGGATTCATAATCCTCCAGCTCTACCCCCACCCCCAGTGACCCACATCTTAGCCCCATGACCTCTGACCTCCTGACCCCTTCCTCATCCTTGCTTCCCCTTGTGAACTCTGACCCTTCCGTGGTGACCTGAGAGCCCTACAGACTCTGTGGCCCAGAGACTCCGTGACCTCCGACCCCATCCCAGACCCAGGCCCCCCCCATGTCACAGCCCGCAGGCAGGCCTAGGCCCTAAGCCCCAGGCCCCATGACCACCCCGTGTCCACCCCGGTGCCCTTTCCCTGGCTGCCCGGGTGTGACTGCCATGTGGCCGCAGGACCCGCTGTTCGTGCTGGAGCACAGCCTGCCCATTGACACGCAGTACTACCTGGAGCAGCAGCTGGCCAAGCCCCTCCTGCGCATCTTCGAGCCCATCCTGGGCGAGGGCCGTGCCGAGGCTGTGCTACTGCGTACGGGGGCACCAGGGGACTGGGGGCACCCTGGGGGGGCAGAGGAGATCACCGGCCCACCACCTGCCTCCTCTCCTGCAGGGGGGGACCACACGCGCTGCAAGACGGTGCTCACGGGCAAGGTGGGCGGCCTCCTGGCCTTCGCCAAACGCCGCAACTGCTGCATTGGCTGCCGCACAGTGCTCAGCCACCAGGGTGAGCGGCCCTGGCCACTGGGCCCCCACTGGCCCTCAACCTGCTCTGCCGTCACCCCAGATCCTAGACACCCACCCCATCGGCTGGCACTGCCACCCAGTGGGCCCAGGGCCCCTGGGTGGGTGGCCCCTGTCTCCACCCCCCACAGAGGGTCCTCGGCCCCCACCCCGGGAGTTCCCCAGGGGAGTTTTCCCAGCACACTTGCTCCGTTGTTCTCCAGCCTCTGGGGACTTTCAGAAGCTGGGATTGGCAGTGGGCAGGGATGGGGTGGCCCAGTTCCTGGCTGGGCCCCAGCACTTGGGCTGACCCGCCTCCCCACAGGAGCCGTGTGTGAGTTCTGCCAGCCCCGGGAGTCTGAGCTGTATCAGAAGGAGGTGAGAGGGCCGGGAGGTGAGGAGGGGCCAGGTGGGGAGGCGGGGGCGCCCTGCTCAGCCGCTGCCGTCCCCAGGTATCCCATCTGAATGCCCTGGAGGAGCGCTTCTCGCGCCTCTGGACGCAGTGCCAGCGCTGCCAGGGCAGCCTGCACGAGGACGTCATCTGCACCAGGTGTGTGCCATGTCCCGACCCTGGGCTGCCCCGCCCCTTCCCAGCTCCCAGGCCTGTGGGTTGTGGACCCAACCTCTGACTCCAAGGCCTCTCCTGAGCATCCTCCCCGCCCATCCCCTTCCAGCTGTGAGCTGTCCTGAGCCTCAGTGTCCTTGTCTGAAAAATGGGCCCATCCCAGCCCCCCAGAGGGGGTGGGTGCTTAGGGAGGCAGCGCCCGGCACCCAGTGTTGCCCGGGAAACGGCTGTCCTCCCGACACACCCAGCCAGCCTGGCCCCCTCCCCAGGGCGGGGCCGGGCTTTCCCCAGGGAACGGGTAGGCGGGGTGGGTTCCCACGCCAGGTGACAGGTGATATACGGCCAGCCATGGCCCTGCACCTCGCCAGGCACCCGCTGTTATCGGCTCCCCCCCCCCACCCCCCCCGTGCCTGCTGAGCAAACAGCCCGCTGCGGGAGGGGGCGGGTGGGCTGGGCAGCAGGCGGGGACCAAAGTCCTGGGAACAGCCCCCACCCCTCTCCCAGGCTGGGCACTGGGCCTTGGCTGGTCCTGACCCTGCCCCTGCCCCCACCCGCAGCCGGGACTGCCCCATCTTCTACATGCGCAAGAAGGTGCGGAAGGACCTGGAAGACCAGGAGCAGCTCCTGCGGCGCTTCGGACCCCCTGGACCTGAGGCCTGGTGACCTTGCAAGCATCCCATGGGGCGGGGGCGGGACCAGGGAGAATTAATAAAGTTCTGGACTTTTGCTATATGGTGCTTTGTGGTCTCTGGGGGACACTGTCTGGTTTCATAAGCCCTGGCCTTGGCTGGGACCCTCCTGAGGCCCGCACCGCCCCTCATCCTCAGCAAAAGCCCCCGGACTCCCACCTGTGCTGCCTGGTTCATGTGGGCCAAGCCTGCCTCAGTTTCCTCTCTGGCCCTGAAGGAACCCTTATACCAGCGCTTCTCTGCCCTGCTTAGGGCCCCCAGGTGTCTGGCCCCGGCCCAGCCCTCCCTGGTGATGACCCTGGGGACCCTGGTGGCTGCCCCGCCCTCCAGGTGCTGACCTGTTTCCTCCAGGCCCTGGGGCAGCCCCAGGCGCACCGGGGCTTCCACTCCTCAGCCCGGCCAAGGGGACCCCCCCATCCCCCGCCGGACCACACACCCACGATGTTTCCACGTCGGGGTCCTGGCAATGGGCTTTGGGTCTGGGTTTCCCCCCAGCGACTCCCATCTCTATCCCCGCAGCCTCTAACTGCCGTCAGATGCCCTCGGCCCTCCCGTCACCTCACACATCCCCCGGGGAGAGTCTTGTGCTTGCCCCTCGGCCCCCAGCCCGCCCCTGCTGGAATTCGGCTCCTGGGTCCAGATCCTCCGTTTCCTGATTCTCCTCTTCAGTGAACCCCAGCCCTTCCTCGATGTTTTCAGGGTTCCCCCAAATCCAGCTCCTGTCCCATCTCCAGCCCTCAAGGTCAGCCCCCCAAACCCAGCCCCACGGGGATCCCCAAATCCAGACAGCCCCTGGCCCGCCATCCCTGCCATGTGACAAAGGGGTTGTGCAATCCAGCCCCCTCCCCTGACCCCCTCCCTGAGGGGATTTTTGAGGAGGGCCGAGCTTGTGGCCAGCGGGCACCCTCCTCCCCCCGGCAGGGGCTGGGCCAAGATATAAATAGGGTTGGCGGCTGCAGCGGGCGGCAAACAGCCCGCCCGGCACCACCATGCTCGCCCTGGAGGCTGCACAGTAAGTGAGGGCCCCCAAACCTGCACCCGGGGTCCCCACCTGCACTGCCCCTCTGTGGGGCCTCACCCATGGGCAGTGGTTTCTCTGCTCCTCACGGCCGGTGGGTGGGAGTGGAGGGGAGGGGTCCACCCTGTCTCTTGCCCCTTCTGGTTCTGTTCCCTCTTCACTTCGGACTCTCCATCCCCCCAGTTCCTATCTTTCCTGGTCCCCAAAGATCTCATTTCCCCAGAACACTTGCTAGCGTGCCCTCCTGCGGGCGTCCTCCGTGGCTCTCACTCTGTCCATCCTCCTGTCTCCCCGAGTTCCCGTATCTGTTCGCTCTGTATCTGGCATCTCCCAGCTCTCAACATTCTGCCTGTTGCTCTCTGTCTCTCTGCCTGTCTCTGTGTCTCTGTCTCCAGTTCTCGCTCTCCCTGCCTTTTGGTCTCCTTCTGCCTCACCCTCACTCTCAGTGCCTCCATCTGGGGCTCCAGGAATCCTCCCCGCCTCTGTGCGTGAATGTCCCTTTGCACACCTTTCTCTGTGTCCCACCTCTCCTTGAGCCTCCTCATCTGAGTCTTCTCCGGGCTTCCCCCTCTCTACCCAGACATCTCTCCATCCTTCTCCTCTGGTCCAAGCTGGACTCAACTGACTCGCCACCAAGGCCGCACTTGACCCAGGCCCCCTCTCCATCCCCACACCTCCTTTCCGGGACTTTCTCTCCCTCACTTTCCCTGCCCCTCCCCACCAGGGTGTCTATGCAAATTCTGGGGAGGAGGGGGACATTTGCCTCCCCCCCACCCCCCACTTCCTGTCCCAGCAGGGGGTAGTGGGGGAGTCCGGTGAATGTGGTGGGGCTGGTCCCTCACACAGGGCTGCGGTGGTCACAGCTGCTGCCGC | CGTCCCCTACGTGATCATCAGTGCCGCCAAGGGTGTGGCCGCCTACATGAAGTCGGAGGTCAGGCCCACCTGGCTGCCTGCTCCCGCCCAGCCCCCTCGCTCTCACTTCTGCTTTCCGAGATGGGCGGGCCTGCGGGAAGGGTGGGGCCTCCCGTGCCCTGTGGGGCCCTGAGAACCGCCCCCCATGGCAGCCTGGGTGTGGCCTCGGCCCCCTCTGGAGGTCCCCCCTCTATTCTGACCCCTCCCTTGCTTCCCTATGGAAGGGGCCCCAGTCCCTCCCCTGTGCATACAGCTCCCCAGCCGGGGGTTCCCTTGGATTCATAATCCTCCAGCTCTACCCCCACCCCCAGTGACCCACATCTTAGCCCCATGACCTCTGACCTCCTGACCCCTTCCTCATCCTTGCTTCCCCTTGTGAACTCTGACCCTTCCGTGGTGACCTGAGAGCCCTACAGACTCTGTGGCCCAGAGACTCCGTGACCTCCGACCCCATCCCAGACCCAGGCCCCCCCCATGTCACAGCCCGCAGGCAGGCCTAGGCCCTAAGCCCCAGGCCCCATGACCACCCCGTGTCCACCCCGGTGCCCTTTCCCTGGCTGCCCGGGTGTGACTGCCATGTGGCCGCAGGACCCGCTGTTCGTGCTGGAGCACAGCCTGCCCATTGACACGCAGTACTACCTGGAGCAGCAGCTGGCCAAGCCCCTCCTGCGCATCTTCGAGCCCATCCTGGGCGAGGGCCGTGCCGAGGCTGTGCTACTGCGTACGGGGGCACCAGGGGACTGGGGGCACCCTGGGGGGGCAGAGGAGATCACCGGCCCACCACCTGCCTCCTCTCCTGCAGGGGGGGACCACACGCGCTGCAAGACGGTGCTCACGGGCAAGGTGGGCGGCCTCCTGGCCTTCGCCAAACGCCGCAACTGCTGCATTGGCTGCCGCACAGTGCTCAGCCACCAGGGTGAGCGGCCCTGGCCACTGGGCCCCCACTGGCCCTCAACCTGCTCTGCCGTCACCCCAGATCCTAGACACCCACCCCATCGGCTGGCACTGCCACCCAGTGGGCCCAGGGCCCCTGGGTGGGTGGCCCCTGTCTCCACCCCCCACAGAGGGTCCTCGGCCCCCACCCCGGGAGTTCCCCAGGGGAGTTTTCCCAGCACACTTGCTCCGTTGTTCTCCAGCCTCTGGGGACTTTCAGAAGCTGGGATTGGCAGTGGGCAGGGATGGGGTGGCCCAGTTCCTGGCTGGGCCCCAGCACTTGGGCTGACCCGCCTCCCCACAGGAGCCGTGTGTGAGTTCTGCCAGCCCCGGGAGTCTGAGCTGTATCAGAAGGAGGTGAGAGGGCCGGGAGGTGAGGAGGGGCCAGGTGGGGAGGCGGGGGCGCCCTGCTCAGCCGCTGCCGTCCCCAGGTATCCCATCTGAATGCCCTGGAGGAGCGCTTCTCGCGCCTCTGGACGCAGTGCCAGCGCTGCCAGGGCAGCCTGCACGAGGACGTCATCTGCACCAGGTGTGTGCCATGTCCCGACCCTGGGCTGCCCCGCCCCTTCCCAGCTCCCAGGCCTGTGGGTTGTGGACCCAACCTCTGACTCCAAGGCCTCTCCTGAGCATCCTCCCCGCCCATCCCCTTCCAGCTGTGAGCTGTCCTGAGCCTCAGTGTCCTTGTCTGAAAAATGGGCCCATCCCAGCCCCCCAGAGGGGGTGGGTGCTTAGGGAGGCAGCGCCCGGCACCCAGTGTTGCCCGGGAAACGGCTGTCCTCCCGACACACCCAGCCAGCCTGGCCCCCTCCCCAGGGCGGGGCCGGGCTTTCCCCAGGGAACGGGTAGGCGGGGTGGGTTCCCACGCCAGGTGACAGGTGATATACGGCCAGCCATGGCCCTGCACCTCGCCAGGCACCCGCTGTTATCGGCTCCCCCCCCCCACCCCCCCCGTGCCTGCTGAGCAAACAGCCCGCTGCGGGAGGGGGCGGGTGGGCTGGGCAGCAGGCGGGGACCAAAGTCCTGGGAACAGCCCCCACCCCTCTCCCAGGCTGGGCACTGGGCCTTGGCTGGTCCTGACCCTGCCCCTGCCCCTGCCCCTGCCCCCACCCGCAGCCGGGACTGCCCCATCTTCTACATGCGCAAGAAGGTGCGGAAGGACCTGGAAGACCAGGAGCAGCTCCTGCGGCGCTTCGGACCCCCTGGACCTGAGGCCTGGTGACCTTGCAAGCATCCCATGGGGCGGGGGCGGGACCAGGGAGAATTAATAAAGTTCTGGACTTTTGCTATATGGTGCTTTGTGGTCTCTGGGGGACACTGTCTGGTTTCATAAGCCCTGGCCTTGGCTGGGACCCTCCTGAGGCCCGCACCGCCCCTCATCCTCAGCAAAAGCCCCCGGACTCCCACCTGTGCTGCCTGGTTCATGTGGGCCAAGCCTGCCTCAGTTTCCTCTCTGGCCCTGAAGGAACCCTTATACCAGCGCTTCTCTGCCCTGCTTAGGGCCCCCAGGTGTCTGGCCCCGGCCCAGCCCTCCCTGGTGATGACCCTGGGGACCCTGGTGGCTGCCCCGCCCTCCAGGTGCTGACCTGTTTCCTCCAGGCCCTGGGGCAGCCCCAGGCGCACCGGGGCTTCCACTCCTCAGCCCGGCCAAGGGGACCCCCCCATCCCCCGCCGGACCACACACCCACGATGTTTCCACGTCGGGGTCCTGGCAATGGGCTTTGGGTCTGGGTTTCCCCCCAGCGACTCCCATCTCTATCCCCGCAGCCTCTAACTGCCGTCAGATGCCCTCGGCCCTCCCGTCACCTCACACATCCCCCGGGGAGAGTCTTGTGCTTGCCCCTCGGCCCCCAGCCCGCCCCTGCTGGAATTCGGCTCCTGGGTCCAGATCCTCCGTTTCCTGATTCTCCTCTTCAGTGAACCCCAGCCCTTCCTCGATGTTTTCAGGGTTCCCCCAAATCCAGCTCCTGTCCCATCTCCAGCCCTCAAGGTCAGCCCCCCAAACCCAGCCCCACGGGGATCCCCAAATCCAGACAGCCCCTGGCCCGCCATCCCTGCCATGTGACAAAGGGGTTGTGCAATCCAGCCCCCTCCCCTGACCCCCTCCCTGAGGGGATTTTTGAGGAGGGCCGAGCTTGTGGCCAGCGGGCACCCTCCTCCCCCCGGCAGGGGCTGGGCCAAGATATAAATAGGGTTGGCGGCTGCAGCGGGCGGCAAACAGCCCGCCCGGCACCACCATGCTCGCCCTGGAGGCTGCACAGTAAGTGAGGGCCCCCAAACCTGCACCCGGGGTCCCCACCTGCACTGCCCCTCTGTGGGGCCTCACCCATGGGCAGTGGTTTCTCTGCTCCTCACGGCCGGTGGGTGGGAGTGGAGGGGAGGGGTCCACCCTGTCTCTTGCCCCTTCTGGTTCTGTTCCCTCTTCACTTCGGACTCTCCATCCCCCCAGTTCCTATCTTTCCTGGTCCCCAAAGATCTCATTTCCCCAGAACACTTGCTAGCGTGCCCTCCTGCGGGCGTCCTCCGTGGCTCTCACTCTGTCCATCCTCCTGTCTCCCCGAGTTCCCGTATCTGTTCGCTCTGTATCTGGCATCTCCCAGCTCTCAACATTCTGCCTGTTGCTCTCTGTCTCTCTGCCTGTCTCTGTGTCTCTGTCTCCAGTTCTCGCTCTCCCTGCCTTTTGGTCTCCTTCTGCCTCACCCTCACTCTCAGTGCCTCCATCTGGGGCTCCAGGAATCCTCCCCGCCTCTGTGCGTGAATGTCCCTTTGCACACCTTTCTCTGTGTCCCACCTCTCCTTGAGCCTCCTCATCTGAGTCTTCTCCGGGCTTCCCCCTCTCTACCCAGACATCTCTCCATCCTTCTCCTCTGGTCCAAGCTGGACTCAACTGACTCGCCACCAAGGCCGCACTTGACCCAGGCCCCCTCTCCATCCCCACACCTCCTTTCCGGGACTTTCTCTCCCTCACTTTCCCTGCCCCTCCCCACCAGGGTGTCTATGCAAATTCTGGGGAGGAGGGGGACATTTGCCTCCCCCCCACCCCCCACTTCCTGTCCCAGCAGGGGGTAGTGGGGGAGTCCGGTGAATGTGGTGGGGCTGGTCCCTCACACAGGGCTGCGGTGGTCAC | benign | 309,373 |
Gene EMC10 (ER membrane protein complex subunit 10) variant at chromosome 19, position 50479052—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Intellectual_disability', 'Neurodevelopmental_disorder_with_dysmorphic_facies_and_variable_seizures'] | CCAACGCTTAGGGAGGCCGAGGCGGGAGGATTGCTCTAGGCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCGAGCCCTGTCTCTACAAAAAATACTAAAAAAAAAAAAAAAATTAGGCCGGTCGCGGTGGCTCATGCTTGTAATCCCAGCACTTCGGGAAGCCGAGGCGGGCGGACCACTTGAAGTCAGGAGTTCAAGACCAGCCTGCTCAAAATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCTGGATGTGGTGGCAGGTGCCTGTAATTCCAACTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGGGAGCTGAGATCACGCTACTGCACTCCAGCCTGGGCGACTGAGCGAGACCCTGTCTCAGAAAAAGAAAATAAGGCGTGGGAGGGGGCTCTTGAGGAAGTGGAGATGAGTTTTGTCTCCTAAATATGCGTGAGTATGCAAGTTTGGAGGTTGGAGAAAAGGAAAGCATGAATCTTGAATGTGCTTAATAGGGACTGAACTCAGGCTGCATCTTGGCTATTGGGCTGTCAGGTGATAAGGAGGCCATTTGAATATTAGCATGAAAAAGAAGGCTTGGGAGAGGGAGAGTGTCATTTAACTCATGAGTATTTGTGGCGCAAGGCTTGGAAGTGACCTTGGGATAGTTGCTTTGGCAATGAGGTTAGGCATGTTTGTAGGGTCTGGTTTTCTGGGGGTGAGGGAGTGCAGAGTATGAATATTCATGAAATGGGTGGTTTCTAGTGAAATAAAGGCAAGCAGCAGTGATTAACTTGAAGATAAGGCTCCTCCCTCAGCCCACCAGTCTGTCTGTCCTGGGTTCTGTGGGTGACTACTATGCTGAGGGCTTGGGTGGTCCTCACCTGGGGCCTTCTGTGTCCTCTGCAGGCTGGGGCGGAAGGTCGAGAGGGCGAGGCCTGTGGCACGGTGGGGCTGCTGCTGGAGCACTCATTTGAGATCGGTGAGTCAGGCAACGTCCTCTCCTAGACACTTAACATTGGTGCCCTGAGAAGTCAAGACTTGGAGTCTGGGTGCCTCCCGTCGTATGACATTTACTAACAACCATTTACTAACAGATTTGCCTCAGGTTAGGGGAAAGTGGGACATGAAAGAAGAGAAACACTCTTTAAATGCCCCCTTGCCTGTGAGACAAACCTCAGTTTTTAAAAGGTCATCACAGCAGTAATAATTTCAGAGCGGCTTTCCTGATCAGTCGCCACGTGCCCAGCATTAGCGGTTCCACGCTTTGCAAGTATTAACTCAGATGTCCTCACAGCAGCCATGTGAGGTGGTAGGTATTCGTGTCAGCCCCTTTTTCCAGAAGAGGAAACGGGCTCAGAGTAGGCACCACACAAGGTCTCATCGTGAGTGAGTGGCAGAGCAGGGGCCAGCTTCAAACCCAAACTTAAATTGCCATGATGCAGGTGTCCAGGTTCCCAGAGCTGGACGTCAGTGCTGCCCAGAGTGTAGTAATCGAGTCTGAGGCCCCGAACCTGAGGGCACAAACCCTGAAGCTGGTGCCCCTCTGCAAACCCTGGCATCTGCTCAGTGAACAGCTCCCCTGATTCTGACATGGCCAGGTAGTTGGGAATTCCTGAACTCCACAGCCTCCGTATTTTGCAGTTGGGGAAGCTGAGGCTCAGAGAGGTTGTGTGGCTATCCCTGGGTCACCTGGTGAGGCAGAGGCAGGATTTGGGAGCTGTGGGGTTCATGCATCTGCTACGGGTTGCCTTGTGAGGTGGAACATGGTGGAGGTGTCCCCACTTTGCAGATAGCAAAATGGGGGCCCAGATGGGGAGGGAACCTGGTCACTCGGGTGGAGGCCAGGCCAAAATTTGAAGCTGGACCTCCTGGCCCCTGCCTGGGTTGAAGGGTGGGCGGGGGAGGGGGCGTCTCTGAACCTGAGCTCCTCACAGATGACAGTGCCAACTTCCGGAAGCGGGGCTCACTGCTCTGGAACCAGCAGGATGGTACCTTGTCCCTGTCACAGCGGCAGCTCAGCGAGGAGGAGCGGGGCCGACTCCGGGTGAGGTGGGGCCCTCAGGGCTGGGTGTGGATGGGGATGGAGGGTTTCCAGCTGTCTCTTCAGCCACCCCCTGCTGGTCCCCAGCAGCCTTCCCTCCAGGCCCAGGTGGGCTCCCAGCACCACCTGCCACTCTCAGCCTCTGTCCTCAATGACTGCCCCTGGAGGAACGGCATTGCAGTTCGTCTTAGCGCCGCCAGGCATGGTGTCCTGCATCACGGCCTCTTCCTGCACTGCTCCCTCTGCTGGCAGACCCCCTTCCCCTGCAGGTTCACACAGTCGGCTCCTCTTCTTTTCCAGATCAGCTGAGCTGTTTCATGACCACTTAGATGAGATTTGTTTGTGAGGAGAAAGCCTCAAAATAGCTATGGTTGGACAGGAGCTCACTTCTGTCGCCCTGTGTTGTGGCAGCCTCAAGGGCCCAGCTCAATCCTCCGCAGGGGTCATGCAGAGAGGCCCCAGGGCTCCAGGCAGCAGGATAGAGAGGGAGAAAGAGGGGCAGAAGGAGCAGCAGCATTTAGAGAAAGCTTGCAAAAGCTGGCACAACCCACTTCCACCCATCAGCCAGATGTAGCTGTGAGGGAGGCTGGGGAGTGCAGGCTTGATTCTGGTGGCCACGCGGTGAGGTCTGCCTGAGCACCCTTCCTGCATGGTACCCACATGATTCTCTTGTCACAGCTGTCCCCAAACAGAATTTATTATGCATGTAACTGGTACGTCCAGGCATAGGGTGGACGCCAGGTGCAGCTGGATCCAGGCACAGGGAAGGCGTCCTCAGGACCCACTCCATCGCTGGGCTGGGCTTTGCCCTCCTTGTGGTGGCTTTTCCCCTAGGTGGGGCGGTCCCAGCTGCTCCTGGCCTCACCCACCAGCCGGGCCACCCCAACAGGAAGAGTCCTGGGTCGACTCAGGTTGGCTGGCCTGGGGAGTGTGGGCCGTGAGGTGGGTGGGGCTGGAGAGGGGCCTTCGCGGAGGCCTGGTGGGCATCACAGCCTGTCCAGGGCTGACACCATCCTTCTGACCAGCACCCTCTTCTCCCATCCCCAGGATGTGGCAGCCCTGAATGGCCTGTACCGGGTCCGGATCCCAAGGCGACCCGGGGCCCTGGATGGCCTGGAAGCTGGTGGCTATGTCTCCTCCTTTGTCCCTGCGGTGAGTTGGTGTCGGGGATGAGCCCCCTTCTCCCTCGTCCTCCTCATCCCCTACCCTGGTCCTGCTTCCACCATTCGAACCCCTGTGTTTCTGGAGCCCGCAGAGGCCTGGGAGACTCAGACCTGGCCTTGCCTTCCGAGGCCTCCTGGTCTGGAGGGGTCGGTCCAGGTAGCGGGTGCTTTCATGGGGATAGCATTGTGAGGACTCCCGGGTGGGGGGCGGTTGAACTTGGGCCTGAGGGTAACAGGGAGCCATGGGAAGGTTTTGAAAAATGCTCCGGGGGTCCTGTGGTGGGGGCCGGGGGAGGTTAGGGTGGAGCCCAGGCAGCAGGCTCCCCACCTCCACTGACCCCACTCCCCCCACAGTGCTCCCTGGTGGAGTCGCACCTGTCGGACCAGCTGACCCTGCACGTGGATGTGGCCGGCAACGTGGTGGGCGTGTCGGTGGTGACGCACCCCGGGGGCTGCCGGGGCCATGAGGTGGAGGACGTGGACCTGGAGCTGTTCAACACCTCGGTGCAGCTGCAGCCGCCCACCACAGCCCCAGGGTGAGCCTCTGCTGCCTTCGCGGCGCTCTTGCCACCTGCCCCGGCCCTTCCTGGCGGCCTCAGGGTCTCCAGGTCCCTGGACTCCGGGCCTCACCCTTCTCCTCCTCTCCCCTTGCCCCAGCCCTGAGACGGCGGCCTTCATTGAGCGCCTGGAGATGGAACAGGCCCAGAAGGCCAAGAACCCCCAGGAGCAGAAGTCCTTCTTCGCCAAATACGTGAGTGGGGCTCCCCCGCCTCCCCTATTCCCTTCCTGACAGTCCCGGTGCCTGGCCAGGCCCTCCATGCTCCCACCCAGACTCCCCTATGGTGCTCGGGCCTGCTCCTTGTCCTCCGGGCC | CCAACGCTTAGGGAGGCCGAGGCGGGAGGATTGCTCTAGGCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCGAGCCCTGTCTCTACAAAAAATACTAAAAAAAAAAAAAAAATTAGGCCGGTCGCGGTGGCTCATGCTTGTAATCCCAGCACTTCGGGAAGCCGAGGCGGGCGGACCACTTGAAGTCAGGAGTTCAAGACCAGCCTGCTCAAAATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCTGGATGTGGTGGCAGGTGCCTGTAATTCCAACTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGGGAGCTGAGATCACGCTACTGCACTCCAGCCTGGGCGACTGAGCGAGACCCTGTCTCAGAAAAAGAAAATAAGGCGTGGGAGGGGGCTCTTGAGGAAGTGGAGATGAGTTTTGTCTCCTAAATATGCGTGAGTATGCAAGTTTGGAGGTTGGAGAAAAGGAAAGCATGAATCTTGAATGTGCTTAATAGGGACTGAACTCAGGCTGCATCTTGGCTATTGGGCTGTCAGGTGATAAGGAGGCCATTTGAATATTAGCATGAAAAAGAAGGCTTGGGAGAGGGAGAGTGTCATTTAACTCATGAGTATTTGTGGCGCAAGGCTTGGAAGTGACCTTGGGATAGTTGCTTTGGCAATGAGGTTAGGCATGTTTGTAGGGTCTGGTTTTCTGGGGGTGAGGGAGTGCAGAGTATGAATATTCATGAAATGGGTGGTTTCTAGTGAAATAAAGGCAAGCAGCAGTGATTAACTTGAAGATAAGGCTCCTCCCTCAGCCCACCAGTCTGTCTGTCCTGGGTTCTGTGGGTGACTACTATGCTGAGGGCTTGGGTGGTCCTCACCTGGGGCCTTCTGTGTCCTCTGCAGGCTGGGGCGGAAGGTCGAGAGGGCGAGGCCTGTGGCACGGTGGGGCTGCTGCTGGAGCACTCATTTGAGATCGGTGAGTCAGGCAACGTCCTCTCCTAGACACTTAACATTGGTGCCCTGAGAAGTCAAGACTTGGAGTCTGGGTGCCTCCCGTCGTATGACATTTACTAACAACCATTTACTAACAGATTTGCCTCAGGTTAGGGGAAAGTGGGACATGAAAGAAGAGAAACACTCTTTAAATGCCCCCTTGCCTGTGAGACAAACCTCAGTTTTTAAAAGGTCATCACAGCAGTAATAATTTCAGAGCGGCTTTCCTGATCAGTCGCCACGTGCCCAGCATTAGCGGTTCCACGCTTTGCAAGTATTAACTCAGATGTCCTCACAGCAGCCATGTGAGGTGGTAGGTATTCGTGTCAGCCCCTTTTTCCAGAAGAGGAAACGGGCTCAGAGTAGGCACCACACAAGGTCTCATCGTGAGTGAGTGGCAGAGCAGGGGCCAGCTTCAAACCCAAACTTAAATTGCCATGATGCAGGTGTCCAGGTTCCCAGAGCTGGACGTCAGTGCTGCCCAGAGTGTAGTAATCGAGTCTGAGGCCCCGAACCTGAGGGCACAAACCCTGAAGCTGGTGCCCCTCTGCAAACCCTGGCATCTGCTCAGTGAACAGCTCCCCTGATTCTGACATGGCCAGGTAGTTGGGAATTCCTGAACTCCACAGCCTCCGTATTTTGCAGTTGGGGAAGCTGAGGCTCAGAGAGGTTGTGTGGCTATCCCTGGGTCACCTGGTGAGGCAGAGGCAGGATTTGGGAGCTGTGGGGTTCATGCATCTGCTACGGGTTGCCTTGTGAGGTGGAACATGGTGGAGGTGTCCCCACTTTGCAGATAGCAAAATGGGGGCCCAGATGGGGAGGGAACCTGGTCACTCGGGTGGAGGCCAGGCCAAAATTTGAAGCTGGACCTCCTGGCCCCTGCCTGGGTTGAAGGGTGGGCGGGGGAGGGGGCGTCTCTGAACCTGAGCTCCTCACAGATGACAGTGCCAACTTCCGGAAGCGGGGCTCACTGCTCTGGAACCAGCAGGATGGTACCTTGTCCCTGTCACAGCGGCAGCTCAGCGAGGAGGAGCGGGCCGACTCCGGGTGAGGTGGGGCCCTCAGGGCTGGGTGTGGATGGGGATGGAGGGTTTCCAGCTGTCTCTTCAGCCACCCCCTGCTGGTCCCCAGCAGCCTTCCCTCCAGGCCCAGGTGGGCTCCCAGCACCACCTGCCACTCTCAGCCTCTGTCCTCAATGACTGCCCCTGGAGGAACGGCATTGCAGTTCGTCTTAGCGCCGCCAGGCATGGTGTCCTGCATCACGGCCTCTTCCTGCACTGCTCCCTCTGCTGGCAGACCCCCTTCCCCTGCAGGTTCACACAGTCGGCTCCTCTTCTTTTCCAGATCAGCTGAGCTGTTTCATGACCACTTAGATGAGATTTGTTTGTGAGGAGAAAGCCTCAAAATAGCTATGGTTGGACAGGAGCTCACTTCTGTCGCCCTGTGTTGTGGCAGCCTCAAGGGCCCAGCTCAATCCTCCGCAGGGGTCATGCAGAGAGGCCCCAGGGCTCCAGGCAGCAGGATAGAGAGGGAGAAAGAGGGGCAGAAGGAGCAGCAGCATTTAGAGAAAGCTTGCAAAAGCTGGCACAACCCACTTCCACCCATCAGCCAGATGTAGCTGTGAGGGAGGCTGGGGAGTGCAGGCTTGATTCTGGTGGCCACGCGGTGAGGTCTGCCTGAGCACCCTTCCTGCATGGTACCCACATGATTCTCTTGTCACAGCTGTCCCCAAACAGAATTTATTATGCATGTAACTGGTACGTCCAGGCATAGGGTGGACGCCAGGTGCAGCTGGATCCAGGCACAGGGAAGGCGTCCTCAGGACCCACTCCATCGCTGGGCTGGGCTTTGCCCTCCTTGTGGTGGCTTTTCCCCTAGGTGGGGCGGTCCCAGCTGCTCCTGGCCTCACCCACCAGCCGGGCCACCCCAACAGGAAGAGTCCTGGGTCGACTCAGGTTGGCTGGCCTGGGGAGTGTGGGCCGTGAGGTGGGTGGGGCTGGAGAGGGGCCTTCGCGGAGGCCTGGTGGGCATCACAGCCTGTCCAGGGCTGACACCATCCTTCTGACCAGCACCCTCTTCTCCCATCCCCAGGATGTGGCAGCCCTGAATGGCCTGTACCGGGTCCGGATCCCAAGGCGACCCGGGGCCCTGGATGGCCTGGAAGCTGGTGGCTATGTCTCCTCCTTTGTCCCTGCGGTGAGTTGGTGTCGGGGATGAGCCCCCTTCTCCCTCGTCCTCCTCATCCCCTACCCTGGTCCTGCTTCCACCATTCGAACCCCTGTGTTTCTGGAGCCCGCAGAGGCCTGGGAGACTCAGACCTGGCCTTGCCTTCCGAGGCCTCCTGGTCTGGAGGGGTCGGTCCAGGTAGCGGGTGCTTTCATGGGGATAGCATTGTGAGGACTCCCGGGTGGGGGGCGGTTGAACTTGGGCCTGAGGGTAACAGGGAGCCATGGGAAGGTTTTGAAAAATGCTCCGGGGGTCCTGTGGTGGGGGCCGGGGGAGGTTAGGGTGGAGCCCAGGCAGCAGGCTCCCCACCTCCACTGACCCCACTCCCCCCACAGTGCTCCCTGGTGGAGTCGCACCTGTCGGACCAGCTGACCCTGCACGTGGATGTGGCCGGCAACGTGGTGGGCGTGTCGGTGGTGACGCACCCCGGGGGCTGCCGGGGCCATGAGGTGGAGGACGTGGACCTGGAGCTGTTCAACACCTCGGTGCAGCTGCAGCCGCCCACCACAGCCCCAGGGTGAGCCTCTGCTGCCTTCGCGGCGCTCTTGCCACCTGCCCCGGCCCTTCCTGGCGGCCTCAGGGTCTCCAGGTCCCTGGACTCCGGGCCTCACCCTTCTCCTCCTCTCCCCTTGCCCCAGCCCTGAGACGGCGGCCTTCATTGAGCGCCTGGAGATGGAACAGGCCCAGAAGGCCAAGAACCCCCAGGAGCAGAAGTCCTTCTTCGCCAAATACGTGAGTGGGGCTCCCCCGCCTCCCCTATTCCCTTCCTGACAGTCCCGGTGCCTGGCCAGGCCCTCCATGCTCCCACCCAGACTCCCCTATGGTGCTCGGGCCTGCTCCTTGTCCTCCGGGCCN | pathogenic | 309,405 |
Evaluate if the mutation on chromosome 19 at position 51354304 in ETFB (electron transfer flavoprotein subunit beta) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Multiple_acyl-CoA_dehydrogenase_deficiency'] | CCTCTTCTGCTCATAGAACTCCCATAGCTCCCCAGTGCCCTCCAAAATTCTCAAGTCTTTGTTTCAAGCCCAGGCCTGTCTCCTGAACCTGCATCGATGTCTCCTGGGCTCTTCACACTCCCCTTGTAGGATCCTCCTCTAACCTCCTGTTCTTCCTGGGTTTCCTACCTGTGTTACCAAGGCAGACCCAGGCACTGTCCTTGCCTCCTCCCTGCCCTCCCTCCCCATGCTAAGCCCAGTCTCTCCTGCCACATCATGTCTCTGCTCTGTCCTGTCACCTTTGGCTGAGGCCTCATTCTCCCCCATGTGACCATCACCTCGGCCTCCCAGCCTCTAAACTCACCCAAAAGGATCTTTCTTCTTTTTTTCTTTTTGAGACAGAGTCTCGCTCTGCTCCCAGGCAGGAGTGCAGTGGTGCCTGGAGTGCAGTGGTGCGATCTTGTATCACTGCAACCTCCGCCTCCCAGGTTCCAGTGATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCAGGTGATACCACACCCGGCTAATTTTTATATTTTTAGAAGAGATGGGGTTTCACCATGTTGGCCACGCTAATCTCAAACTCTCGACCTCAAGTGATCCACTGGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGCGTAAACCACCGTGCCTGGCCCAAGAGGATCTTTCTAACACCCAGAGGGACTCTGTCCTCCCTGCTCAAACTCTCTGTCAGAAGGGTCAGCAAAGTCCCAAGCTGCTCAGCCTGGAGTGGTGAATGCCCTGGGCCTGGCCAGCTGCTGTCTCACCCCGTATCTCCACCACCCTCCTCCCGAGCAGGGATGAGCAAGGGGGCACAGGGAGGGCTGACCACAGCTACCTGTTTGCCCAGCAGCACCAGGTCCACCTTCTCCTTCTCTGCCAGCTTGGCCAGGACCCGAGCCACCTGCAGGGGACCCAAGCGTTCTGCTTCTGCTGGGGGCACCTCCACGTGGATACCTCGGTCTGCACCCATGGCCAGGGCGGTACGAATCGTCTCCTGCCAAGGACAGAGGGGCTTGACTTGGCTGCTATCCTCAGGGGGACCTAGGAGTCTGGCTCGCAGCCCCTCCTTCCTCAGACCCAGGAGTCCAGGGCCCCATCCCCTCCTTCCTCAGACCCAGGAGTCCAGGCCCCCATCCCCTCCTTCCTCAGACCCAGGAGTCCGGGCCCCCATCCCCTCCTTCCTCAGACCCAGGAGTCCGGGCCCCCATCCCCTCCTTCCTCAGACCCAGGAGTCCGGGCCCCCATCCCCTCCTTCCTCAGACCCAGGAGTCCGGGCCCCCATCCCCTCCTTCCTCAGACCCAGGAGTCCGGGCCCCCATCCCCTCCTTCCTCAGACCCAGGAGTCCGGGCCCCCATCCCCTCCTTCTTCAGACCCAGGAGTCCAGGCCCCCATCCCCTCCTTCCTCAGACCCAGGAATCCAGGCTATCAGCCCATCCTCCCTCAGACCCAGGGGTCCAGACTTCCAGCCTCCTCCTCCCTCAGACCCAGGAGTCCAGGTCCCAGCCCCTCCTTCCTCAGACCCAGGAGTCCAGGGCCCCATCCCCTCCTTCCTCAGACCCAGGAATCCAGGCCCCCATCCCCTTCTTCCTCAGACCCAGGAGTCCAGGGCCCCATCCCCTCCTTCCTCAGACCCAAGAGTCCAGGCCCCCAGCCCCTCCTTCCTCAGACCCAGGAGTCCAGGCCCCCATCCCCTTCTTCCTCAGACCCAGGAATCCAGGCTATCAGCCCATCCTCCCTCAGACCCAGGGGTCCAGACTTCCAGCCTCCTCCTCCCTCAGACCCAGGAGTCCAGGTCCCAGCCCCTCCTCCGTCAGACCCAGGAGTCCAGCCCCCTCCCCAAGACCTTCATCACCTGGCACTGTGCAGGCCCACAGCTGACGGCGATGACCTCCTTCACCAGCTTCTTCTCCTTGAGCCGCACAGCCTCCTCCACCGCGATCTCACAGAAGGGGTTCATGGAGTGCTTCACACCATCCGTGACCACACCGGTCCTGTCAGGCTTCACTCGGATCTGCCCAGCAGGAGGGGAAGGGGTGGGGTCAGGAGGAAACAGGCAAGAAGGTGGGGGCCTCAGCGCCAACCCTCTCCCAGGCTGGATGAGGACAACGACAGCCTGGAAAGGGGCAGGGCCTTGTCCGGGGTCACACAGCTCCAGGGACAGAACTGGGTTAGAGTTTGTAGGCAGGGGCAGGTCACCCTGTCTCCTTCTCTCATCCAGCCATTCCTGGGTACCAGGGACATCTGACTTGATCATCCCTACTGTTGTCACTGCTCCTCTCAGGCCTGAAAGAGTGTTTCTCAAATTTACAGTATTTATGGTAACCCACAGTGAGAGGTACATTTTACTGTATCTCCAAGTGTATATAAATACATAATACACTGATACATAAATACAAATGAGGAGAAGAAAAGGAAAAACCAGTTAGGTAGACAGTTAAGGGTGGTCCTCAGAGGAGCAGCCTGCCTGAAAAATCACAGCTACAGGCAACAATAGAGCAGCCTGGGGAAAACTCAAGCTGCCCAGCACAGAAGCCTTTTGTTCTTTGCGTGACTGACAGGCTCCCAGGAAAAGTTCCCTCCCCTTTTCAGGCACGTACATGGTGGTCTCTGTGGGAACTTGCACGGGGAGGGGCGGAGCTTACCTAAAACAAACCCACGGTTACAGAAACAAGAGAAGCGGAGCTTTGTGCTTGCCTAAAGACGTACCCACAACTACATAGATAACGGAGAGTTATGCAGATAGCTTTACAGATAAGATACTCAAACAGCTACAGAGATGAAAGGAGTTTCTTATAAAAGCTTTTGGTGTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAACCATCAGAGTGAACAGGCAACCTACAGAATGGGAGAAAATTTTTGCAGCCTACTCATCTGACAAATGGCTAATATCCAGAATCTACAATGAACTCAAACAAATGTACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGCGAAGGATATGAATAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAATCACAATGAGATACCGTCTCACACCAGTTAGAACGGCGATCATTAAAAAGTCAGGAAAGAACAGGTGCTGGAGAGGATGTGGAGAAAAAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCGGTGTGGTGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCTATTACTGGGTATATACCCAAAGGATTATAAATCATGCTGCTATAAAGACACATGCACACATATGTTTATTGCGGCACTATTCACAATAGTAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAACAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAGCTGGAAACCATCATTCTCAGCAAACTATCGCAAGGACAGAAAACCAAACAACGCATGTTCTCACTCATAGGTGGGAATTGAACAATGAGAACACATGGACACAGGAAGGGGAACATCACACACCGGGGACTGTCGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTAGGAGATATACCTAATGCTAAAGGACGAGTTACTGGGTGCAGCACACCAACATGGCACATATAAACACATGTAACAAACCTGTACGTTGTGCACATGTATCCTAAAACTTAAAGTATAATAATAAAAAATAAATAAATAAATAATTTTTTAAAAAAAAAGCTTTTGGAATCAACTGTAAAAATGGCAACCCGCTTGGGCTTCCCTCTCCTCTGTGGAGAGCTTTCTTCTTTTGCTTATTAAACTTTCGCTCCAACCTCACCTTTTGGGTGGTCTATGCTCTTTAATTCTCTTGGTTGTGAAACGAGCTCGGATAACACCTTAGACAACGTGACCAGTGACCCTGACCTATTTCACAAATGCCACTGCAGTGTAAGGGTC | CCTCTTCTGCTCATAGAACTCCCATAGCTCCCCAGTGCCCTCCAAAATTCTCAAGTCTTTGTTTCAAGCCCAGGCCTGTCTCCTGAACCTGCATCGATGTCTCCTGGGCTCTTCACACTCCCCTTGTAGGATCCTCCTCTAACCTCCTGTTCTTCCTGGGTTTCCTACCTGTGTTACCAAGGCAGACCCAGGCACTGTCCTTGCCTCCTCCCTGCCCTCCCTCCCCATGCTAAGCCCAGTCTCTCCTGCCACATCATGTCTCTGCTCTGTCCTGTCACCTTTGGCTGAGGCCTCATTCTCCCCCATGTGACCATCACCTCGGCCTCCCAGCCTCTAAACTCACCCAAAAGGATCTTTCTTCTTTTTTTCTTTTTGAGACAGAGTCTCGCTCTGCTCCCAGGCAGGAGTGCAGTGGTGCCTGGAGTGCAGTGGTGCGATCTTGTATCACTGCAACCTCCGCCTCCCAGGTTCCAGTGATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCAGGTGATACCACACCCGGCTAATTTTTATATTTTTAGAAGAGATGGGGTTTCACCATGTTGGCCACGCTAATCTCAAACTCTCGACCTCAAGTGATCCACTGGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGCGTAAACCACCGTGCCTGGCCCAAGAGGATCTTTCTAACACCCAGAGGGACTCTGTCCTCCCTGCTCAAACTCTCTGTCAGAAGGGTCAGCAAAGTCCCAAGCTGCTCAGCCTGGAGTGGTGAATGCCCTGGGCCTGGCCAGCTGCTGTCTCACCCCGTATCTCCACCACCCTCCTCCCGAGCAGGGATGAGCAAGGGGGCACAGGGAGGGCTGACCACAGCTACCTGTTTGCCCAGCAGCACCAGGTCCACCTTCTCCTTCTCTGCCAGCTTGGCCAGGACCCGAGCCACCTGCAGGGGACCCAAGCGTTCTGCTTCTGCTGGGGGCACCTCCACGTGGATACCTCGGTCTGCACCCATGGCCAGGGCGGTACGAATCGTCTCCTGCCAAGGACAGAGGGGCTTGACTTGGCTGCTATCCTCAGGGGGACCTAGGAGTCTGGCTCGCAGCCCCTCCTTCCTCAGACCCAGGAGTCCAGGGCCCCATCCCCTCCTTCCTCAGACCCAGGAGTCCAGGCCCCCATCCCCTCCTTCCTCAGACCCAGGAGTCCGGGCCCCCATCCCCTCCTTCCTCAGACCCAGGAGTCCGGGCCCCCATCCCCTCCTTCCTCAGACCCAGGAGTCCGGGCCCCCATCCCCTCCTTCCTCAGACCCAGGAGTCCGGGCCCCCATCCCCTCCTTCCTCAGACCCAGGAGTCCGGGCCCCCATCCCCTCCTTCCTCAGACCCAGGAGTCCGGGCCCCCATCCCCTCCTTCTTCAGACCCAGGAGTCCAGGCCCCCATCCCCTCCTTCCTCAGACCCAGGAATCCAGGCTATCAGCCCATCCTCCCTCAGACCCAGGGGTCCAGACTTCCAGCCTCCTCCTCCCTCAGACCCAGGAGTCCAGGTCCCAGCCCCTCCTTCCTCAGACCCAGGAGTCCAGGGCCCCATCCCCTCCTTCCTCAGACCCAGGAATCCAGGCCCCCATCCCCTTCTTCCTCAGACCCAGGAGTCCAGGGCCCCATCCCCTCCTTCCTCAGACCCAAGAGTCCAGGCCCCCAGCCCCTCCTTCCTCAGACCCAGGAGTCCAGGCCCCCATCCCCTTCTTCCTCAGACCCAGGAATCCAGGCTATCAGCCCATCCTCCCTCAGACCCAGGGGTCCAGACTTCCAGCCTCCTCCTCCCTCAGACCCAGGAGTCCAGGTCCCAGCCCCTCCTCCGTCAGACCCAGGAGTCCAGCCCCCTCCCCAAGACCTTCATCACCTGGCACTGTGCAGGCCCACAGCTGACGGCGATGACCTCCTTCACCAGCTTCTTCTCCTTGAGCCGCACAGCCTCCTCCACCGCGATCTCACAGAAGGGGTTCATGGAGTGCTTCACACCATCCGTGACCACACCGGTCCTGTCAGGCTTCACTCGATCTGCCCAGCAGGAGGGGAAGGGGTGGGGTCAGGAGGAAACAGGCAAGAAGGTGGGGGCCTCAGCGCCAACCCTCTCCCAGGCTGGATGAGGACAACGACAGCCTGGAAAGGGGCAGGGCCTTGTCCGGGGTCACACAGCTCCAGGGACAGAACTGGGTTAGAGTTTGTAGGCAGGGGCAGGTCACCCTGTCTCCTTCTCTCATCCAGCCATTCCTGGGTACCAGGGACATCTGACTTGATCATCCCTACTGTTGTCACTGCTCCTCTCAGGCCTGAAAGAGTGTTTCTCAAATTTACAGTATTTATGGTAACCCACAGTGAGAGGTACATTTTACTGTATCTCCAAGTGTATATAAATACATAATACACTGATACATAAATACAAATGAGGAGAAGAAAAGGAAAAACCAGTTAGGTAGACAGTTAAGGGTGGTCCTCAGAGGAGCAGCCTGCCTGAAAAATCACAGCTACAGGCAACAATAGAGCAGCCTGGGGAAAACTCAAGCTGCCCAGCACAGAAGCCTTTTGTTCTTTGCGTGACTGACAGGCTCCCAGGAAAAGTTCCCTCCCCTTTTCAGGCACGTACATGGTGGTCTCTGTGGGAACTTGCACGGGGAGGGGCGGAGCTTACCTAAAACAAACCCACGGTTACAGAAACAAGAGAAGCGGAGCTTTGTGCTTGCCTAAAGACGTACCCACAACTACATAGATAACGGAGAGTTATGCAGATAGCTTTACAGATAAGATACTCAAACAGCTACAGAGATGAAAGGAGTTTCTTATAAAAGCTTTTGGTGTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAACCATCAGAGTGAACAGGCAACCTACAGAATGGGAGAAAATTTTTGCAGCCTACTCATCTGACAAATGGCTAATATCCAGAATCTACAATGAACTCAAACAAATGTACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGCGAAGGATATGAATAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAATCACAATGAGATACCGTCTCACACCAGTTAGAACGGCGATCATTAAAAAGTCAGGAAAGAACAGGTGCTGGAGAGGATGTGGAGAAAAAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCGGTGTGGTGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCTATTACTGGGTATATACCCAAAGGATTATAAATCATGCTGCTATAAAGACACATGCACACATATGTTTATTGCGGCACTATTCACAATAGTAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAACAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAGCTGGAAACCATCATTCTCAGCAAACTATCGCAAGGACAGAAAACCAAACAACGCATGTTCTCACTCATAGGTGGGAATTGAACAATGAGAACACATGGACACAGGAAGGGGAACATCACACACCGGGGACTGTCGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTAGGAGATATACCTAATGCTAAAGGACGAGTTACTGGGTGCAGCACACCAACATGGCACATATAAACACATGTAACAAACCTGTACGTTGTGCACATGTATCCTAAAACTTAAAGTATAATAATAAAAAATAAATAAATAAATAATTTTTTAAAAAAAAAGCTTTTGGAATCAACTGTAAAAATGGCAACCCGCTTGGGCTTCCCTCTCCTCTGTGGAGAGCTTTCTTCTTTTGCTTATTAAACTTTCGCTCCAACCTCACCTTTTGGGTGGTCTATGCTCTTTAATTCTCTTGGTTGTGAAACGAGCTCGGATAACACCTTAGACAACGTGACCAGTGACCCTGACCTATTTCACAAATGCCACTGCAGTGTAAGGGTCN | pathogenic | 309,526 |
Mutation at chromosome 19, position 51354360, within ETFB (electron transfer flavoprotein subunit beta): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | CTTTGTTTCAAGCCCAGGCCTGTCTCCTGAACCTGCATCGATGTCTCCTGGGCTCTTCACACTCCCCTTGTAGGATCCTCCTCTAACCTCCTGTTCTTCCTGGGTTTCCTACCTGTGTTACCAAGGCAGACCCAGGCACTGTCCTTGCCTCCTCCCTGCCCTCCCTCCCCATGCTAAGCCCAGTCTCTCCTGCCACATCATGTCTCTGCTCTGTCCTGTCACCTTTGGCTGAGGCCTCATTCTCCCCCATGTGACCATCACCTCGGCCTCCCAGCCTCTAAACTCACCCAAAAGGATCTTTCTTCTTTTTTTCTTTTTGAGACAGAGTCTCGCTCTGCTCCCAGGCAGGAGTGCAGTGGTGCCTGGAGTGCAGTGGTGCGATCTTGTATCACTGCAACCTCCGCCTCCCAGGTTCCAGTGATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCAGGTGATACCACACCCGGCTAATTTTTATATTTTTAGAAGAGATGGGGTTTCACCATGTTGGCCACGCTAATCTCAAACTCTCGACCTCAAGTGATCCACTGGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGCGTAAACCACCGTGCCTGGCCCAAGAGGATCTTTCTAACACCCAGAGGGACTCTGTCCTCCCTGCTCAAACTCTCTGTCAGAAGGGTCAGCAAAGTCCCAAGCTGCTCAGCCTGGAGTGGTGAATGCCCTGGGCCTGGCCAGCTGCTGTCTCACCCCGTATCTCCACCACCCTCCTCCCGAGCAGGGATGAGCAAGGGGGCACAGGGAGGGCTGACCACAGCTACCTGTTTGCCCAGCAGCACCAGGTCCACCTTCTCCTTCTCTGCCAGCTTGGCCAGGACCCGAGCCACCTGCAGGGGACCCAAGCGTTCTGCTTCTGCTGGGGGCACCTCCACGTGGATACCTCGGTCTGCACCCATGGCCAGGGCGGTACGAATCGTCTCCTGCCAAGGACAGAGGGGCTTGACTTGGCTGCTATCCTCAGGGGGACCTAGGAGTCTGGCTCGCAGCCCCTCCTTCCTCAGACCCAGGAGTCCAGGGCCCCATCCCCTCCTTCCTCAGACCCAGGAGTCCAGGCCCCCATCCCCTCCTTCCTCAGACCCAGGAGTCCGGGCCCCCATCCCCTCCTTCCTCAGACCCAGGAGTCCGGGCCCCCATCCCCTCCTTCCTCAGACCCAGGAGTCCGGGCCCCCATCCCCTCCTTCCTCAGACCCAGGAGTCCGGGCCCCCATCCCCTCCTTCCTCAGACCCAGGAGTCCGGGCCCCCATCCCCTCCTTCCTCAGACCCAGGAGTCCGGGCCCCCATCCCCTCCTTCTTCAGACCCAGGAGTCCAGGCCCCCATCCCCTCCTTCCTCAGACCCAGGAATCCAGGCTATCAGCCCATCCTCCCTCAGACCCAGGGGTCCAGACTTCCAGCCTCCTCCTCCCTCAGACCCAGGAGTCCAGGTCCCAGCCCCTCCTTCCTCAGACCCAGGAGTCCAGGGCCCCATCCCCTCCTTCCTCAGACCCAGGAATCCAGGCCCCCATCCCCTTCTTCCTCAGACCCAGGAGTCCAGGGCCCCATCCCCTCCTTCCTCAGACCCAAGAGTCCAGGCCCCCAGCCCCTCCTTCCTCAGACCCAGGAGTCCAGGCCCCCATCCCCTTCTTCCTCAGACCCAGGAATCCAGGCTATCAGCCCATCCTCCCTCAGACCCAGGGGTCCAGACTTCCAGCCTCCTCCTCCCTCAGACCCAGGAGTCCAGGTCCCAGCCCCTCCTCCGTCAGACCCAGGAGTCCAGCCCCCTCCCCAAGACCTTCATCACCTGGCACTGTGCAGGCCCACAGCTGACGGCGATGACCTCCTTCACCAGCTTCTTCTCCTTGAGCCGCACAGCCTCCTCCACCGCGATCTCACAGAAGGGGTTCATGGAGTGCTTCACACCATCCGTGACCACACCGGTCCTGTCAGGCTTCACTCGGATCTGCCCAGCAGGAGGGGAAGGGGTGGGGTCAGGAGGAAACAGGCAAGAAGGTGGGGGCCTCAGCGCCAACCCTCTCCCAGGCTGGATGAGGACAACGACAGCCTGGAAAGGGGCAGGGCCTTGTCCGGGGTCACACAGCTCCAGGGACAGAACTGGGTTAGAGTTTGTAGGCAGGGGCAGGTCACCCTGTCTCCTTCTCTCATCCAGCCATTCCTGGGTACCAGGGACATCTGACTTGATCATCCCTACTGTTGTCACTGCTCCTCTCAGGCCTGAAAGAGTGTTTCTCAAATTTACAGTATTTATGGTAACCCACAGTGAGAGGTACATTTTACTGTATCTCCAAGTGTATATAAATACATAATACACTGATACATAAATACAAATGAGGAGAAGAAAAGGAAAAACCAGTTAGGTAGACAGTTAAGGGTGGTCCTCAGAGGAGCAGCCTGCCTGAAAAATCACAGCTACAGGCAACAATAGAGCAGCCTGGGGAAAACTCAAGCTGCCCAGCACAGAAGCCTTTTGTTCTTTGCGTGACTGACAGGCTCCCAGGAAAAGTTCCCTCCCCTTTTCAGGCACGTACATGGTGGTCTCTGTGGGAACTTGCACGGGGAGGGGCGGAGCTTACCTAAAACAAACCCACGGTTACAGAAACAAGAGAAGCGGAGCTTTGTGCTTGCCTAAAGACGTACCCACAACTACATAGATAACGGAGAGTTATGCAGATAGCTTTACAGATAAGATACTCAAACAGCTACAGAGATGAAAGGAGTTTCTTATAAAAGCTTTTGGTGTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAACCATCAGAGTGAACAGGCAACCTACAGAATGGGAGAAAATTTTTGCAGCCTACTCATCTGACAAATGGCTAATATCCAGAATCTACAATGAACTCAAACAAATGTACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGCGAAGGATATGAATAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAATCACAATGAGATACCGTCTCACACCAGTTAGAACGGCGATCATTAAAAAGTCAGGAAAGAACAGGTGCTGGAGAGGATGTGGAGAAAAAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCGGTGTGGTGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCTATTACTGGGTATATACCCAAAGGATTATAAATCATGCTGCTATAAAGACACATGCACACATATGTTTATTGCGGCACTATTCACAATAGTAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAACAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAGCTGGAAACCATCATTCTCAGCAAACTATCGCAAGGACAGAAAACCAAACAACGCATGTTCTCACTCATAGGTGGGAATTGAACAATGAGAACACATGGACACAGGAAGGGGAACATCACACACCGGGGACTGTCGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTAGGAGATATACCTAATGCTAAAGGACGAGTTACTGGGTGCAGCACACCAACATGGCACATATAAACACATGTAACAAACCTGTACGTTGTGCACATGTATCCTAAAACTTAAAGTATAATAATAAAAAATAAATAAATAAATAATTTTTTAAAAAAAAAGCTTTTGGAATCAACTGTAAAAATGGCAACCCGCTTGGGCTTCCCTCTCCTCTGTGGAGAGCTTTCTTCTTTTGCTTATTAAACTTTCGCTCCAACCTCACCTTTTGGGTGGTCTATGCTCTTTAATTCTCTTGGTTGTGAAACGAGCTCGGATAACACCTTAGACAACGTGACCAGTGACCCTGACCTATTTCACAAATGCCACTGCAGTGTAAGGGTCAGTGACCAATACTGACCCTGCCTACACACACACCATACTCTGACATTTTCTACCCT | CTTTGTTTCAAGCCCAGGCCTGTCTCCTGAACCTGCATCGATGTCTCCTGGGCTCTTCACACTCCCCTTGTAGGATCCTCCTCTAACCTCCTGTTCTTCCTGGGTTTCCTACCTGTGTTACCAAGGCAGACCCAGGCACTGTCCTTGCCTCCTCCCTGCCCTCCCTCCCCATGCTAAGCCCAGTCTCTCCTGCCACATCATGTCTCTGCTCTGTCCTGTCACCTTTGGCTGAGGCCTCATTCTCCCCCATGTGACCATCACCTCGGCCTCCCAGCCTCTAAACTCACCCAAAAGGATCTTTCTTCTTTTTTTCTTTTTGAGACAGAGTCTCGCTCTGCTCCCAGGCAGGAGTGCAGTGGTGCCTGGAGTGCAGTGGTGCGATCTTGTATCACTGCAACCTCCGCCTCCCAGGTTCCAGTGATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCAGGTGATACCACACCCGGCTAATTTTTATATTTTTAGAAGAGATGGGGTTTCACCATGTTGGCCACGCTAATCTCAAACTCTCGACCTCAAGTGATCCACTGGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGCGTAAACCACCGTGCCTGGCCCAAGAGGATCTTTCTAACACCCAGAGGGACTCTGTCCTCCCTGCTCAAACTCTCTGTCAGAAGGGTCAGCAAAGTCCCAAGCTGCTCAGCCTGGAGTGGTGAATGCCCTGGGCCTGGCCAGCTGCTGTCTCACCCCGTATCTCCACCACCCTCCTCCCGAGCAGGGATGAGCAAGGGGGCACAGGGAGGGCTGACCACAGCTACCTGTTTGCCCAGCAGCACCAGGTCCACCTTCTCCTTCTCTGCCAGCTTGGCCAGGACCCGAGCCACCTGCAGGGGACCCAAGCGTTCTGCTTCTGCTGGGGGCACCTCCACGTGGATACCTCGGTCTGCACCCATGGCCAGGGCGGTACGAATCGTCTCCTGCCAAGGACAGAGGGGCTTGACTTGGCTGCTATCCTCAGGGGGACCTAGGAGTCTGGCTCGCAGCCCCTCCTTCCTCAGACCCAGGAGTCCAGGGCCCCATCCCCTCCTTCCTCAGACCCAGGAGTCCAGGCCCCCATCCCCTCCTTCCTCAGACCCAGGAGTCCGGGCCCCCATCCCCTCCTTCCTCAGACCCAGGAGTCCGGGCCCCCATCCCCTCCTTCCTCAGACCCAGGAGTCCGGGCCCCCATCCCCTCCTTCCTCAGACCCAGGAGTCCGGGCCCCCATCCCCTCCTTCCTCAGACCCAGGAGTCCGGGCCCCCATCCCCTCCTTCCTCAGACCCAGGAGTCCGGGCCCCCATCCCCTCCTTCTTCAGACCCAGGAGTCCAGGCCCCCATCCCCTCCTTCCTCAGACCCAGGAATCCAGGCTATCAGCCCATCCTCCCTCAGACCCAGGGGTCCAGACTTCCAGCCTCCTCCTCCCTCAGACCCAGGAGTCCAGGTCCCAGCCCCTCCTTCCTCAGACCCAGGAGTCCAGGGCCCCATCCCCTCCTTCCTCAGACCCAGGAATCCAGGCCCCCATCCCCTTCTTCCTCAGACCCAGGAGTCCAGGGCCCCATCCCCTCCTTCCTCAGACCCAAGAGTCCAGGCCCCCAGCCCCTCCTTCCTCAGACCCAGGAGTCCAGGCCCCCATCCCCTTCTTCCTCAGACCCAGGAATCCAGGCTATCAGCCCATCCTCCCTCAGACCCAGGGGTCCAGACTTCCAGCCTCCTCCTCCCTCAGACCCAGGAGTCCAGGTCCCAGCCCCTCCTCCGTCAGACCCAGGAGTCCAGCCCCCTCCCCAAGACCTTCATCACCTGGCACTGTGCAGGCCCACAGCTGACGGCGATGACCTCCTTCACCAGCTTCTTCTCCTTGAGCCGCACAGCCTCCTCCACCGCGATCTCACAGAAGGGGTTCATGGAGTGCTTCACACCATCCGTGACCACACCGGTCCTGTCAGGCTTCACTCGGATCTGCCCAGCAGGAGGGGAAGGGGTGGGGTCAGGAGGAAACAGGCAAGAAGGTGGGGGGCCTCAGCGCCAACCCTCTCCCAGGCTGGATGAGGACAACGACAGCCTGGAAAGGGGCAGGGCCTTGTCCGGGGTCACACAGCTCCAGGGACAGAACTGGGTTAGAGTTTGTAGGCAGGGGCAGGTCACCCTGTCTCCTTCTCTCATCCAGCCATTCCTGGGTACCAGGGACATCTGACTTGATCATCCCTACTGTTGTCACTGCTCCTCTCAGGCCTGAAAGAGTGTTTCTCAAATTTACAGTATTTATGGTAACCCACAGTGAGAGGTACATTTTACTGTATCTCCAAGTGTATATAAATACATAATACACTGATACATAAATACAAATGAGGAGAAGAAAAGGAAAAACCAGTTAGGTAGACAGTTAAGGGTGGTCCTCAGAGGAGCAGCCTGCCTGAAAAATCACAGCTACAGGCAACAATAGAGCAGCCTGGGGAAAACTCAAGCTGCCCAGCACAGAAGCCTTTTGTTCTTTGCGTGACTGACAGGCTCCCAGGAAAAGTTCCCTCCCCTTTTCAGGCACGTACATGGTGGTCTCTGTGGGAACTTGCACGGGGAGGGGCGGAGCTTACCTAAAACAAACCCACGGTTACAGAAACAAGAGAAGCGGAGCTTTGTGCTTGCCTAAAGACGTACCCACAACTACATAGATAACGGAGAGTTATGCAGATAGCTTTACAGATAAGATACTCAAACAGCTACAGAGATGAAAGGAGTTTCTTATAAAAGCTTTTGGTGTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAACCATCAGAGTGAACAGGCAACCTACAGAATGGGAGAAAATTTTTGCAGCCTACTCATCTGACAAATGGCTAATATCCAGAATCTACAATGAACTCAAACAAATGTACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGCGAAGGATATGAATAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAATCACAATGAGATACCGTCTCACACCAGTTAGAACGGCGATCATTAAAAAGTCAGGAAAGAACAGGTGCTGGAGAGGATGTGGAGAAAAAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCGGTGTGGTGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCTATTACTGGGTATATACCCAAAGGATTATAAATCATGCTGCTATAAAGACACATGCACACATATGTTTATTGCGGCACTATTCACAATAGTAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAACAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAGCTGGAAACCATCATTCTCAGCAAACTATCGCAAGGACAGAAAACCAAACAACGCATGTTCTCACTCATAGGTGGGAATTGAACAATGAGAACACATGGACACAGGAAGGGGAACATCACACACCGGGGACTGTCGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTAGGAGATATACCTAATGCTAAAGGACGAGTTACTGGGTGCAGCACACCAACATGGCACATATAAACACATGTAACAAACCTGTACGTTGTGCACATGTATCCTAAAACTTAAAGTATAATAATAAAAAATAAATAAATAAATAATTTTTTAAAAAAAAAGCTTTTGGAATCAACTGTAAAAATGGCAACCCGCTTGGGCTTCCCTCTCCTCTGTGGAGAGCTTTCTTCTTTTGCTTATTAAACTTTCGCTCCAACCTCACCTTTTGGGTGGTCTATGCTCTTTAATTCTCTTGGTTGTGAAACGAGCTCGGATAACACCTTAGACAACGTGACCAGTGACCCTGACCTATTTCACAAATGCCACTGCAGTGTAAGGGTCAGTGACCAATACTGACCCTGCCTACACACACACCATACTCTGACATTTTCTACCC | benign | 309,528 |
Variant in NLRP12 (NLR family pyrin domain containing 12), chromosome 19, position 53794152—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | TCTGTCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACCCGCATGTGCTATCACGCCTGGTTAATTCTATATTTTTATTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCTGCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCCTTTTTTTTTTTTTTTTTTTAAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCTCGGTTCACTGCAACCTCTGCCTCCCAGGTGCAAGCGATTCTCCCGCCTCAGCCTCCCCAGCAGCTGGGACTATAGGTGCATGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTATTGATCTCTTGACCTAGTGATCCGCCCGCTTCGGCCTCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCTAATTTTTGTATTTTTAGTAGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGCTGATCTGCCTGCCTTGGCCTCCGAAAGTATTTGGATTACAGGCATGAGTCACCGCATCTGGCGGTATTTTTGTTGAAAGCACAGTGTATAATAGGTTATGGCCAGCCTACACGTGGCCTTGTAGGTGTCAGTTCTTGGCAGGGCCCAGTGAATTCCAGGCAGGGGGCCATCCTGACATGCCTGCCACGTTAAGATTTCAGACATTATCCCCTCCAGCAAGGGAGGATCAGGGCTGTTGGCATAACAAGCATTCTGAGGGTTAGCTTGCATACCAGTCTCTTCCCAAATGCTGAGTTGCCCCATGTATCCTGTGACATTTGAGAATAGGCTTTCCTCAACTTGGCACAATTTGCCTTTGGACCAAGTGCTTTGTCCTGTGCATTCCTTGCTGGATGTTGGCATGCATTCCTAGTGTCGTCCACTAGATGGCAGTGGCACCCACCCCAGAGCTCAAATATTACTATGTTCCGATGCAGCCAGGGCTTGGCAGGGCTGGGTGGCCTCTGAGGGCCCCTACTGGCCATTTTTCACCGTCTCCCTCTGTTGCCCAGGCTGGGGCGCAGTGATGCAATGACAGCTCACTGCAGCCTCGACCTCCTGGGCTCAAGCGATCTTCCCACCTCAGTCCCCAGAGTAGCTGGGACTACAGGCATGTGCTGCTACTCCTGGGTAATTAATTGTACTAATTAATAGTAGTTGGCTAATTAGTAACAGTGGAGTCTTGCTATGTTGCTTAGGCTGGTCTCTAACTCCTAGACTTAAGCAACCCATCTTGCCTCCACCTTTGAAAGTACGGGGGTTACAGGCGTGAGACACCGCACCTGGCCCCTGTTGGGATTTACCCCTCCTGTTAGGGGCCATCAAACCTCTCTTAGTTGGTCATCCCTTAAAGCTCCGTCAAACTTTTTTTTTTTTTTTTTTTGAGATGGAGTCCCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCTGGCTAATTTTTTTTTATTTTTAGTAGAGACAGGGTTTCACCATCTTGGCCAGGCTAATCTCAAACTCCTGACCTCGTGATCCACCTGCCTCGGCCTCTCGAAGTGCTAGGATTACATACATGAGCCACCACGCCTGGCCAGCTCTGTCAAACATTAATTTGATCCCAAGCAGAGGGACTTTTGATCTCAATCTGCATGAGTCTGTCTCTAGGAAGGAGGCTGATCATTATGCTGGGGGGGTGATGAGCACCCTCCCATCTTCCTCTGTCCAGATCTCAGGGGAGAGCCAGCAGATAGGACCATTCAGCAGCCAATGTCCAAATAAGGTTTTGTTACTCGAAGCGCTGCCAACCTACTGTGGGTCATTTTATTCAGGTCCATCCCAAATAACCTGTGGACACAAGAGTTGATATTATTCCAGTGTACTACTGTGGCATTCAATTAATAAGCCTTAAGTATCTATTGTGCACTACCGTGGTAAGATAATTCCATGATCCTCCAGAAATTCCACCCAACGCTGCTGGAAAGTAGGCTTACTACATGCTACATGCAAGTCCCCAAGCTGTGTTAACTGCATAATTTTTTTTTTTTTGAGACACAGTCTCATTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAAGGTTTCACCCGTGTTAGCCAGGATGGTCCTAGTCTCCTAACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCTGGCCAATTCATAATTTATCATAGCCTTATGAAGATGCAACTATGTTCTCCATTTTTTTTTTCTTTCCCCAAGATGGAGTCTTGCTCTGTTGCCCAGGCTAGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGCTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGTAGCTGGGATTACAGTCACGTGCCACCATGCCTGGCTAATTTTTGCATAGAGCCACCCGCTCCCAGCCGTAAGTTTTTGTATTTTTAGTAGAGATGTGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATTTGCCTGCCTTGGCCTTTTTTTTCTTGAGACAAGTTCCTGCTGGGTCACCCAGTGGCGTAATCATGGTTCACTGCAGCCTTGAACTCCTGAGCTCAAAGGATCCTCCCACCTCAGCCCCCTGAGTAGCTTTGATTAGAGGTGTGTGCCACCATACCTGGTGTGTGCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAAAGAAAGCAATTTTCCTAACTCAGCCTGTCAAAGTACTGGGATTACAGGCGCCATCCCCTGCACCCAGCCTAAACTTTGATTGCATCACTGCACTCCAGCCTGGGCCACAGCAAGATCCTGTCCAAAAAAAAAGCAATTGGAGTTTGAACCCAGGCAGAGTAATTCTAGATTCTCACTCGAATCACAGTGACCTCCAATGCAATTGGTGAGCCACGATGGTCCCCTTCAACAGACAAGGAAATTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTTGGGTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTGTTTTTATTAGAGACGGGGTTTCGCCATTTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACCGCGCCCGGCCTCAGACAAGGAAATTATCCAAGGTCACACAGCCAGTAGATGACATAGCTAATATGTGGCCTCATCTGTATGCCCCCTAATTGCATACACCAGTGCATAACGTATTTGTCCATCCAGCTTATCTACCCTCATGCTCCCAGCCCAATGTCCAGCCTCCTCCAGAAAGAACTGGTCATCATCCCTCACCAGAGGACTCGGAGTTTGCAGCCAGGATGGCTCAGCCGCTTGCAAAGCAGTCGGACACCTGTGTCCCCTAGGGCGTTGTTGGTCAGGTAAAGGTCGGTCAAGGTCTGGTTGATCCCCAGGGTGAAGTAAAGATTCTCACAAGCCTTGGCTGTGAGGCCACAGCTATCCAGCCTGGTGAAGATAAGGAGTTGGTTAAGGTAACACCAGGGGCTACTTATGTTATTCGGAGGCAGTGTCTCACCCTGTCTCCCAGGCTGGAGTACAGTGGTGAGATTTCTGTTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCT | TCTGTCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACCCGCATGTGCTATCACGCCTGGTTAATTCTATATTTTTATTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCTGCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCCTTTTTTTTTTTTTTTTTTTAAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCTCGGTTCACTGCAACCTCTGCCTCCCAGGTGCAAGCGATTCTCCCGCCTCAGCCTCCCCAGCAGCTGGGACTATAGGTGCATGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTATTGATCTCTTGACCTAGTGATCCGCCCGCTTCGGCCTCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCTAATTTTTGTATTTTTAGTAGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGCTGATCTGCCTGCCTTGGCCTCCGAAAGTATTTGGATTACAGGCATGAGTCACCGCATCTGGCGGTATTTTTGTTGAAAGCACAGTGTATAATAGGTTATGGCCAGCCTACACGTGGCCTTGTAGGTGTCAGTTCTTGGCAGGGCCCAGTGAATTCCAGGCAGGGGGCCATCCTGACATGCCTGCCACGTTAAGATTTCAGACATTATCCCCTCCAGCAAGGGAGGATCAGGGCTGTTGGCATAACAAGCATTCTGAGGGTTAGCTTGCATACCAGTCTCTTCCCAAATGCTGAGTTGCCCCATGTATCCTGTGACATTTGAGAATAGGCTTTCCTCAACTTGGCACAATTTGCCTTTGGACCAAGTGCTTTGTCCTGTGCATTCCTTGCTGGATGTTGGCATGCATTCCTAGTGTCGTCCACTAGATGGCAGTGGCACCCACCCCAGAGCTCAAATATTACTATGTTCCGATGCAGCCAGGGCTTGGCAGGGCTGGGTGGCCTCTGAGGGCCCCTACTGGCCATTTTTCACCGTCTCCCTCTGTTGCCCAGGCTGGGGCGCAGTGATGCAATGACAGCTCACTGCAGCCTCGACCTCCTGGGCTCAAGCGATCTTCCCACCTCAGTCCCCAGAGTAGCTGGGACTACAGGCATGTGCTGCTACTCCTGGGTAATTAATTGTACTAATTAATAGTAGTTGGCTAATTAGTAACAGTGGAGTCTTGCTATGTTGCTTAGGCTGGTCTCTAACTCCTAGACTTAAGCAACCCATCTTGCCTCCACCTTTGAAAGTACGGGGGTTACAGGCGTGAGACACCGCACCTGGCCCCTGTTGGGATTTACCCCTCCTGTTAGGGGCCATCAAACCTCTCTTAGTTGGTCATCCCTTAAAGCTCCGTCAAACTTTTTTTTTTTTTTTTTTTGAGATGGAGTCCCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCTGGCTAATTTTTTTTTATTTTTAGTAGAGACAGGGTTTCACCATCTTGGCCAGGCTAATCTCAAACTCCTGACCTCGTGATCCACCTGCCTCGGCCTCTCGAAGTGCTAGGATTACATACATGAGCCACCACGCCTGGCCAGCTCTGTCAAACATTAATTTGATCCCAAGCAGAGGGACTTTTGATCTCAATCTGCATGAGTCTGTCTCTAGGAAGGAGGCTGATCATTATGCTGGGGGGGTGATGAGCACCCTCCCATCTTCCTCTGTCCAGATCTCAGGGGAGAGCCAGCAGATAGGACCATTCAGCAGCCAATGTCCAAATAAGGTTTTGTTACTCGAAGCGCTGCCAACCTACTGTGGGTCATTTTATTCAGGTCCATCCCAAATAACCTGTGGACACAAGAGTTATTATTCCAGTGTACTACTGTGGCATTCAATTAATAAGCCTTAAGTATCTATTGTGCACTACCGTGGTAAGATAATTCCATGATCCTCCAGAAATTCCACCCAACGCTGCTGGAAAGTAGGCTTACTACATGCTACATGCAAGTCCCCAAGCTGTGTTAACTGCATAATTTTTTTTTTTTTGAGACACAGTCTCATTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAAGGTTTCACCCGTGTTAGCCAGGATGGTCCTAGTCTCCTAACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCTGGCCAATTCATAATTTATCATAGCCTTATGAAGATGCAACTATGTTCTCCATTTTTTTTTTCTTTCCCCAAGATGGAGTCTTGCTCTGTTGCCCAGGCTAGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGCTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGTAGCTGGGATTACAGTCACGTGCCACCATGCCTGGCTAATTTTTGCATAGAGCCACCCGCTCCCAGCCGTAAGTTTTTGTATTTTTAGTAGAGATGTGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATTTGCCTGCCTTGGCCTTTTTTTTCTTGAGACAAGTTCCTGCTGGGTCACCCAGTGGCGTAATCATGGTTCACTGCAGCCTTGAACTCCTGAGCTCAAAGGATCCTCCCACCTCAGCCCCCTGAGTAGCTTTGATTAGAGGTGTGTGCCACCATACCTGGTGTGTGCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAAAGAAAGCAATTTTCCTAACTCAGCCTGTCAAAGTACTGGGATTACAGGCGCCATCCCCTGCACCCAGCCTAAACTTTGATTGCATCACTGCACTCCAGCCTGGGCCACAGCAAGATCCTGTCCAAAAAAAAAGCAATTGGAGTTTGAACCCAGGCAGAGTAATTCTAGATTCTCACTCGAATCACAGTGACCTCCAATGCAATTGGTGAGCCACGATGGTCCCCTTCAACAGACAAGGAAATTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTTGGGTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTGTTTTTATTAGAGACGGGGTTTCGCCATTTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACCGCGCCCGGCCTCAGACAAGGAAATTATCCAAGGTCACACAGCCAGTAGATGACATAGCTAATATGTGGCCTCATCTGTATGCCCCCTAATTGCATACACCAGTGCATAACGTATTTGTCCATCCAGCTTATCTACCCTCATGCTCCCAGCCCAATGTCCAGCCTCCTCCAGAAAGAACTGGTCATCATCCCTCACCAGAGGACTCGGAGTTTGCAGCCAGGATGGCTCAGCCGCTTGCAAAGCAGTCGGACACCTGTGTCCCCTAGGGCGTTGTTGGTCAGGTAAAGGTCGGTCAAGGTCTGGTTGATCCCCAGGGTGAAGTAAAGATTCTCACAAGCCTTGGCTGTGAGGCCACAGCTATCCAGCCTGGTGAAGATAAGGAGTTGGTTAAGGTAACACCAGGGGCTACTTATGTTATTCGGAGGCAGTGTCTCACCCTGTCTCCCAGGCTGGAGTACAGTGGTGAGATTTCTGTTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTNNN | benign | 309,665 |
Variant at chromosome position 53798340, chromosome 19, gene NLRP12 (NLR family pyrin domain containing 12): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | CCCATGCTGGAGTGCTGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCCAGCAGCTGGGACTACAGGCGAGAGCCACCACACCCAACTAATTGTTGTATTAGTAGAGAGAGGGTTTCACCTTGTTGGCCAGAATGGTCTCAATCTCTTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCGTAATTTTTATATCTTTAGTGGAGAGGGGATTTCACCATGTTGGCCAGACTGGTCTCAAACTCCTGACCTCAAGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTACGCCCAGCCTCTGAAACATTTTAAAAAATTATCTGGGTTAGGCCGGGCGTGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAATTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGGGTGACAGGGAGACCCTGTTTTAAAAAAAAAAAAAATCCCAAATAAACTAGATGATGCCTCATCCCATTCTAAGTCCTTCAGATTAGGGCTACAGCTGGCCTGGCAGAAAGGTGAGGGAGAAAGTCACAATTAACATTTGATTGGAATTTACAGAGCACCAGATTGAATTATTATTTTTTTTTCTCGAGATGGAGTCTTTCTCTGGCACCTAGGCTGGAGTGCAATGGTGTGATCTCCGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGTGTAGCTGGGATTACAGACACCCACCACCACGCCAGGCTAATTTTTGTATTCTTAATAGAGATGGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCTGTCCGCCTTGGACTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCTGAATTATTATTTTTGAGACAGAGTCTTGCTCTATCACCCAGGCTGGAGGGCAGTGGCATGATCTCAGCTCACTGTAATCTCGCCTCCCAGGTTCAAGTCATTCTCCTGCCTCAACCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACACTGGGTTAATTTTTGTATTTTTGTAGAATGGTGTTTCACCGTTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCATTAAGCTACCGTGCCCAGCCTCTTTTGTAATTTTTAAATTTTAATTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGAAACCTCTACTTCCCAGGTACAAGCGATTCTCCTGTCTCAGCCTCCCAAGTAGCTCGGATTACAGGCATGTGCCACCAGGCCCGGCTATTTTTTTTGTATTTAGTAGAGACAGGGTTTCACCGTGTTAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGCATGCGCCATCGCGCCTGGCCTTAAGTTTTTAAAATTTTAAGTCGGGTAGCACCCCCAAATCAGAATAAGTTCAGAGAGACTTCCTGTCTTTTCTTTCCACCTCTCTTCTTGCTACCTGAATCTTTTGTAGTGAAGCAGGATAGTTCATAAATAGAAAAATGAAGGATGAGAAGGCGCTTCCACTGTCCAAACGTGACCACTGCCACCCCGTCACTCCCCGATGCTCACCACAGTTTCTGGAGTCTGCAGGCGGGATGTTGCAGCCCCTCAGCCAGCAACCACAGGCCCCAGTCTCCCAGGTCGTTGAAACTCAAGTCCAGCTCCCGGAGGTTGTGGTTGGCCTGGAGCACCACAGAAAGACCCTCACAGGCGGCAGAGCCCAGCCGGCAGATGCCCAACCTGCAAAGACAGGATGCTAGGGCGGAGTGGGAGGCATTCCTCCTGCAAAATCTGCTGGGAGGGCCCTGTGCCAAGCCCTGTGCTGGTTGCAGACAGAGGGACAGACTCAATCTCTACCCTTGAGAGACAAAAAGAAAAAGACGACAGAAGTAGGAAGATGAGAGGAAGGGAGGAATAAGAGAACAGAAGGAAGCAACTAAGAATCAGGCCAGGTGCCCTGGCTCATGCCTGTCATCCCAGCATCTTGGGAGGCTTGAGGCTGGAGGGTTTTTTGAGGTCAGGAGTTTGTGACCAGTCTGGACAACCAATAACTTGTCTGTACAAAAAAAAATTTTTTTTCTTTTTGCGATGGCGTTTCCCTCTTGTTGTCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACTGCAACCTCCACCTCACAAGCTCAAGCGATTCTCCTGCCTCAGTCTCCCAAGTAGATGGGATTACAGGCATGTGGCAACATGCCCGGCTAATTTTTGTATTTTTAGTACAAGCGGGGTTTCACCATGTTGGTCAGGCTGGTTTCGAACTCCTGACCTTAGGTGATCCACCCGCCTCAGCCTCCTATCTACAAATTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCAATGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGTGACTACAGGTGCACACCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCAGTTGGCCAGGATGGTCTCCATCTCTTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGTTTACAGGCATGAGCCACCGCGCCCAGCCGCGTGTGTGATTTTTTGTTTTTTGTTTTTTGCTGGTGCCTTGATAAAAAAAATACACAAAGTGTGTTTTTTGAGCACTTCTACCCACGTCTTATACTAGTCACTAGGAGATACAGTTGGCATAGCTCCTATGCTTGTGGAATGCCACCACACACACATATACACAAATTACAAATTTTTCTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCATCCAGGCTGGAGTGCAGTGGCAAAATCTCAGCTCACTGCAACCTCCGGCTCCCGGGTTCAAGCAATTCTTCTGCCTCAGCCTCCTGAGTACCTGGATATCAGGCGTCCGCCACCATGCCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGACCTCAGGTCATTCTCCCACCTTGGCCTCCCAAAGTGCTAAGATTACAGGTGTGAGCCACCGCATCCTGCCTTCAGATTTCAATAAATGATGCTGAGGGGGAAGTATGAGGTCACATAGGATCATAAATCTAGGAACCCAGATTTTAGCTAGGGATTAGAAAGGGTGTCCAGCTGGGTGTAGTGGGTCACACCTGTAATCCCAGCACTTTGGAAGGCCAAGGCCAGAGGATCTCCTAAGGCCAGGAGTTTGACACCAGCCTAGGCAACAAATCGAGACCTTGTCCCTACAAAAAATAAATAAAAATTGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCATGAGGTCAGGAGAGAGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAAAATGTTTTTAAAAATTAGCCGGGCATGGTGGCGGGCACCTTTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGTGGAGCTCGCAGTAAGCTGAGATCGCGCCACCGCACTCCAGCCTGGGCGACAGGGCAAGACTCGTCTCAAAAAAAAAGTAAAAATTAGCCATCTGTGGTGGCATGCGCTTGCAGTCCCAGCTACTCAGGAGGCTGAGTTGGGAGGATGGCTT | CCCATGCTGGAGTGCTGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCCAGCAGCTGGGACTACAGGCGAGAGCCACCACACCCAACTAATTGTTGTATTAGTAGAGAGAGGGTTTCACCTTGTTGGCCAGAATGGTCTCAATCTCTTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCGTAATTTTTATATCTTTAGTGGAGAGGGGATTTCACCATGTTGGCCAGACTGGTCTCAAACTCCTGACCTCAAGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTACGCCCAGCCTCTGAAACATTTTAAAAAATTATCTGGGTTAGGCCGGGCGTGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAATTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGGGTGACAGGGAGACCCTGTTTTAAAAAAAAAAAAAATCCCAAATAAACTAGATGATGCCTCATCCCATTCTAAGTCCTTCAGATTAGGGCTACAGCTGGCCTGGCAGAAAGGTGAGGGAGAAAGTCACAATTAACATTTGATTGGAATTTACAGAGCACCAGATTGAATTATTATTTTTTTTTCTCGAGATGGAGTCTTTCTCTGGCACCTAGGCTGGAGTGCAATGGTGTGATCTCCGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGTGTAGCTGGGATTACAGACACCCACCACCACGCCAGGCTAATTTTTGTATTCTTAATAGAGATGGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCTGTCCGCCTTGGACTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCTGAATTATTATTTTTGAGACAGAGTCTTGCTCTATCACCCAGGCTGGAGGGCAGTGGCATGATCTCAGCTCACTGTAATCTCGCCTCCCAGGTTCAAGTCATTCTCCTGCCTCAACCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACACTGGGTTAATTTTTGTATTTTTGTAGAATGGTGTTTCACCGTTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCATTAAGCTACCGTGCCCAGCCTCTTTTGTAATTTTTAAATTTTAATTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGAAACCTCTACTTCCCAGGTACAAGCGATTCTCCTGTCTCAGCCTCCCAAGTAGCTCGGATTACAGGCATGTGCCACCAGGCCCGGCTATTTTTTTTGTATTTAGTAGAGACAGGGTTTCACCGTGTTAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGCATGCGCCATCGCGCCTGGCCTTAAGTTTTTAAAATTTTAAGTCGGGTAGCACCCCCAAATCAGAATAAGTTCAGAGAGACTTCCTGTCTTTTCTTTCCACCTCTCTTCTTGCTACCTGAATCTTTTGTAGTGAAGCAGGATAGTTCATAAATAGAAAAATGAAGGATGAGAAGGCGCTTCCACTGTCCAAACGTGACCACTGCCACCCCGTCACTCCCCGATGCTCACCACAGTTTCTGGAGTCTGCAGGCGGGATGTTGCAGCCCCTCAGCCAGCAACCACAGGCCCCAGTCTCCCAGGTCGTTGAAACTCAAGTCCAGCTCCCGGAGAGGTTGTGGTTGGCCTGGAGCACCACAGAAAGACCCTCACAGGCGGCAGAGCCCAGCCGGCAGATGCCCAACCTGCAAAGACAGGATGCTAGGGCGGAGTGGGAGGCATTCCTCCTGCAAAATCTGCTGGGAGGGCCCTGTGCCAAGCCCTGTGCTGGTTGCAGACAGAGGGACAGACTCAATCTCTACCCTTGAGAGACAAAAAGAAAAAGACGACAGAAGTAGGAAGATGAGAGGAAGGGAGGAATAAGAGAACAGAAGGAAGCAACTAAGAATCAGGCCAGGTGCCCTGGCTCATGCCTGTCATCCCAGCATCTTGGGAGGCTTGAGGCTGGAGGGTTTTTTGAGGTCAGGAGTTTGTGACCAGTCTGGACAACCAATAACTTGTCTGTACAAAAAAAAATTTTTTTTCTTTTTGCGATGGCGTTTCCCTCTTGTTGTCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACTGCAACCTCCACCTCACAAGCTCAAGCGATTCTCCTGCCTCAGTCTCCCAAGTAGATGGGATTACAGGCATGTGGCAACATGCCCGGCTAATTTTTGTATTTTTAGTACAAGCGGGGTTTCACCATGTTGGTCAGGCTGGTTTCGAACTCCTGACCTTAGGTGATCCACCCGCCTCAGCCTCCTATCTACAAATTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCAATGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGTGACTACAGGTGCACACCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCAGTTGGCCAGGATGGTCTCCATCTCTTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGTTTACAGGCATGAGCCACCGCGCCCAGCCGCGTGTGTGATTTTTTGTTTTTTGTTTTTTGCTGGTGCCTTGATAAAAAAAATACACAAAGTGTGTTTTTTGAGCACTTCTACCCACGTCTTATACTAGTCACTAGGAGATACAGTTGGCATAGCTCCTATGCTTGTGGAATGCCACCACACACACATATACACAAATTACAAATTTTTCTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCATCCAGGCTGGAGTGCAGTGGCAAAATCTCAGCTCACTGCAACCTCCGGCTCCCGGGTTCAAGCAATTCTTCTGCCTCAGCCTCCTGAGTACCTGGATATCAGGCGTCCGCCACCATGCCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGACCTCAGGTCATTCTCCCACCTTGGCCTCCCAAAGTGCTAAGATTACAGGTGTGAGCCACCGCATCCTGCCTTCAGATTTCAATAAATGATGCTGAGGGGGAAGTATGAGGTCACATAGGATCATAAATCTAGGAACCCAGATTTTAGCTAGGGATTAGAAAGGGTGTCCAGCTGGGTGTAGTGGGTCACACCTGTAATCCCAGCACTTTGGAAGGCCAAGGCCAGAGGATCTCCTAAGGCCAGGAGTTTGACACCAGCCTAGGCAACAAATCGAGACCTTGTCCCTACAAAAAATAAATAAAAATTGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCATGAGGTCAGGAGAGAGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAAAATGTTTTTAAAAATTAGCCGGGCATGGTGGCGGGCACCTTTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGTGGAGCTCGCAGTAAGCTGAGATCGCGCCACCGCACTCCAGCCTGGGCGACAGGGCAAGACTCGTCTCAAAAAAAAAGTAAAAATTAGCCATCTGTGGTGGCATGCGCTTGCAGTCCCAGCTACTCAGGAGGCTGAGTTGGGAGGATGGC | benign | 309,678 |
Variant chromosome 19, position 53805521, gene NLRP12 (NLR family pyrin domain containing 12): benign or pathogenic? Disease(s)? | benign | CCCGGCCCATCTCTGGAACTTTTTCATCTTCCGAAATGGAACCTCTGCTCCCGTTAAACGGTAACTCCCCATTTCTTCCTGTTCTAGGCCTTGGCAGCCACTATTCTACTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCGTGGCTGGAGTGCAGTGACGTGATCTCAGCTCACTGCAACTTCCGCCTCTCAGGTTCAAGTGATCCTCCTGCCTCAGCCCCCTGAGTAGCTGTGATTACAGGCGTGTGCCACCACATCCAGCTAATTTTTGTATCTTTAGTAGAGAGGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCTGCCCTCTTTGGCCTCCCAAAGTGCCGGGATTACAGGCGTGAGCCACTGCGCCCGACCTGTGGATGCATTTTTATACCATCATTCAATATGAAGAGATTTGCCATTTTATTATAGTTGACCCCAGGAAGAACTCACCACAAAGTCCGTAGTCTGCAGACTGGGTGCCTCAGTCCCTGGCATAGTAACCTCAGGCCCAAATCCTCCAGTGCATTTCCTGTCAGGTCCAACTCAACCAGATGTGGGTTGGTGCCGAGCACAGAAGCCATCTCCTGACAAGCCCCGGACTCCAGCTGACACTTCCTCAACCTTGGGAGGAAGGAGAGGTTGAAGGGGACGCCATCTTGCTTTTCTATGTCGTGATCACTCATGCTCCAGCCTGTTATTTTATTATTTAGGAACAGGTTGTTGCTCTGTCACCCAGGGTGAAGTTCAGTGGAGTGATATCAACTCGCTGAAGCCTCGACCTCCAGGCTCCCGTGATCCTCCTGCCTCAGCCTCCTGAGTAACTGGGAATACATGTGTGCACCACCACACCTGCCTAATTTTTTTTGTTTGTTTGTTTTTTGTTTTTTTTGGGTTTTTTTGTTTTTTTTTTTTTTTGAGGTAGAACCTCATTCTGTCACCCAGGCTGGAGTACAGTGGCGTGATCTTGCCTCACCGCAACCTCCACCTCCTGGGTTCAAGTGATTTTCATACCTCAGTCTCGAGTAGCTGGGACTACAGGCTGGGCTACAGGTGTGTGCCACCACGCCCAGCTAAGTTTTGCATTTTTAGTAGAGACGGGGTGTTTCTCCGTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTATAGACGTGAACCACCGCTCCTGGCCCATACCTGGCTAATTAAAAAAAAAAAATTTTTGTAGGTCGAGTGCAGTGGCTCACACCTGTAATTCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACGTGAGGAAACCCCATCTCTACTAAAAATACAAAAAAGTTAGCTGGGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGCCTGAGGCAGGAGAATCACTTGAACGCAGGAAGTGGGGGTTGCAGTGAGCCGAGATTGTGCCACTGCACCCCAACTTGGGCAACATAGCAAGACCCCGTCTCGGGAGAAAAAAAGAAGAGGTGGGGGATGGCCCCAGGGACTCTTCATCATGTAGAATTGAGTGTGGAGTCAGAGGAGGGCAGAAGCAGGTCTTCCAAAGTGCCTAGAGTCCAGGGCCAGGGTCTTAGGTCATGGGGTTAAGGGCCAGCCCTGATTTAAAGGTGGAGATTTGGGGATTACCAGCATTTTGTGATATTTCATGCCCCAGGAGACAATGAGCTTAAGAAGTTGCTCCCGGGGATAGAGACTCACTGAATCATCTGCAGCCTGCACTGGGGATGCCGCAGGCCCTCGCAAAGCAGCATCATGCCTGGGAATCCAACGCCGTTGCCACTGAGATCCATCCTTGTCAAATTCTTATTGGCTATGAGAGCTGCAGAGAGGTCCTCGCAGGCTGAGCTGGAGATGCGGCACCTCTTCAGCCTGGGGTGGAAAAGAGGAGAAAGGAGCTGGTCATTTCTTTTGCTCCAGTTTTGTGGATTATTTTCTTTTGCTTTTTTTTTTTTTTCTGAGACAGAGTCGCTCTGTCACCCAGGCTGGAGAGCAGTGGCATGATTTTGGCTTACCACAACCTCTGCCTCCTGGGTTGAAGCAATCCTCCTGCCTTGGCCTCCTGAGTAGCTGGGCTTACAGACGTGTGCCACCATGCCTGGCTCATTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGGGTCAAGTGATCCTCCCCATCTGGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCATCATACCTGGCCAATATATTTATTTCAAAATATCATGTTATATATGATAAATTTTACCTGTCAAGAAAAGCAACAAGAACAATATAAAATGTTTTGATGCTTTGTAGTCAAATACATTCACAAAGGTTGCCCTTAAAGAAATTCAAGGCCATGTGCGGTGGCTCAAGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTATGACCAGCCTGGCCAACACAGTGAAACCCCATTTCTACTATAAACACAAAAATTAGCTGGGTGTGGTGATGCACCCCTGTAATCCCAGCTAATCAGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCGGAGGTTGCAGTGAGTCGAGATCATGTCACTGCACTCCAGCCCAGGCTACAGAGCAATACTATCTCAAAAAATAACATATGAAAAAAATTTGGCTAGGCACAGTGGCTCACACCTGTAATCTCAACAGTTAGGGAGGCTGAGGAAGGAGGATCACTTGAGGCCAGAAGTTTGAGACCAGTATGGGCAGCATGGTGAAACCCCATCTCTCCAAAACATACAAAAATTAGCCTGGTGTGGCTGGGCACGGTGGCTCAGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACGAGGTTAGAGATTGAGACCATCCTGGCTAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGCACCTGCCTGTAGTCCCAGCTACTCAGGAGGCCGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCTACTGCACTCCAGCCTGGTGACAAAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAAATTAGCCGGGTGTGGTTGCACATGCTTGTTTTCCCAGCTACTCGTGATGCTGGAGCAAGAGGATCGCTTGAGTCCAGGAGTTTGGGGCTGCAGTGAGCCATGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCATATCAGTGTCTCAAAAATTTAAAAAAAAAAAAAGTAAAAAAAAGAAAAAAATTTGGAGACCCACACAGCAGGATGACCATGTGAAGACAGAAGGCAGTGATCTGCAGGCCCAGGACAGAGGCCTCAGAAGAACTTAACCTGCCCACTCCTTGTCTTGGACTTCCAGCAGCCCCCCACCTGCCTTGAGAAAATAGATTTATGTGGTGAAGCCACCCAGTCTTTGGCACTTTTTTCCCCCCTGAGATGGAGTCTCACCGTATCACCCAGGCTGGAGTGCAGTGGCACAATCCCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGCAGCTGGGATTACAGGCGCCCGCCACCACACCCTCCTGATTTTTGTATTTTTTGTAGAGATGGCATTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCCGCCTTCACCTGTCAACATACTGGGATTACAGACGTGAGCCACGGCACCTGGCTTTGTGACACTTTTTTATGGCAGCCGTAGCCAACGAATACACCATCCCGTGATAGAACCTTTGTGACTGATCCCCATGAGAGGCCACGGTGGGGACCACCTGAAACGCCCAGACCAGCCTGCACTCACCTCAGGTTCTGAAGTTTGCAGTTGGGGTGTCTGAGTCCTTGACAGAGCAGCTTCACCCCCCGGCTGCCCAGGGC | CCCGGCCCATCTCTGGAACTTTTTCATCTTCCGAAATGGAACCTCTGCTCCCGTTAAACGGTAACTCCCCATTTCTTCCTGTTCTAGGCCTTGGCAGCCACTATTCTACTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCGTGGCTGGAGTGCAGTGACGTGATCTCAGCTCACTGCAACTTCCGCCTCTCAGGTTCAAGTGATCCTCCTGCCTCAGCCCCCTGAGTAGCTGTGATTACAGGCGTGTGCCACCACATCCAGCTAATTTTTGTATCTTTAGTAGAGAGGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCTGCCCTCTTTGGCCTCCCAAAGTGCCGGGATTACAGGCGTGAGCCACTGCGCCCGACCTGTGGATGCATTTTTATACCATCATTCAATATGAAGAGATTTGCCATTTTATTATAGTTGACCCCAGGAAGAACTCACCACAAAGTCCGTAGTCTGCAGACTGGGTGCCTCAGTCCCTGGCATAGTAACCTCAGGCCCAAATCCTCCAGTGCATTTCCTGTCAGGTCCAACTCAACCAGATGTGGGTTGGTGCCGAGCACAGAAGCCATCTCCTGACAAGCCCCGGACTCCAGCTGACACTTCCTCAACCTTGGGAGGAAGGAGAGGTTGAAGGGGACGCCATCTTGCTTTTCTATGTCGTGATCACTCATGCTCCAGCCTGTTATTTTATTATTTAGGAACAGGTTGTTGCTCTGTCACCCAGGGTGAAGTTCAGTGGAGTGATATCAACTCGCTGAAGCCTCGACCTCCAGGCTCCCGTGATCCTCCTGCCTCAGCCTCCTGAGTAACTGGGAATACATGTGTGCACCACCACACCTGCCTAATTTTTTTTGTTTGTTTGTTTTTTGTTTTTTTTGGGTTTTTTTGTTTTTTTTTTTTTTTGAGGTAGAACCTCATTCTGTCACCCAGGCTGGAGTACAGTGGCGTGATCTTGCCTCACCGCAACCTCCACCTCCTGGGTTCAAGTGATTTTCATACCTCAGTCTCGAGTAGCTGGGACTACAGGCTGGGCTACAGGTGTGTGCCACCACGCCCAGCTAAGTTTTGCATTTTTAGTAGAGACGGGGTGTTTCTCCGTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTATAGACGTGAACCACCGCTCCTGGCCCATACCTGGCTAATTAAAAAAAAAAAATTTTTGTAGGTCGAGTGCAGTGGCTCACACCTGTAATTCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACGTGAGGAAACCCCATCTCTACTAAAAATACAAAAAAGTTAGCTGGGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGCCTGAGGCAGGAGAATCACTTGAACGCAGGAAGTGGGGGTTGCAGTGAGCCGAGATTGTGCCACTGCACCCCAACTTGGGCAACATAGCAAGACCCCGTCTCGGGAGAAAAAAAGAAGAGGTGGGGGATGGCCCCAGGGACTCTTCATCATGTAGAATTGAGTGTGGAGTCAGAGGAGGGCAGAAGCAGGTCTTCCAAAGTGCCTAGAGTCCAGGGCCAGGGTCTTAGGTCATGGGGTTAAGGGCCAGCCCTGATTTAAAGGTGGAGATTTGGGGATTACCAGCATTTTGTGATATTTCATGCCCCAGGAGACAATGAGCTTAAGAAGTTGCTCCCGGGGATAGAGACTCACTGAATCATCTGCAGCCTGCACTGGGGATGCCGCAGGCCCTCGCAAAGCAGCATCATGCCTGGGAATCCAACGCCGTTGCCACTGAGATCCATCCTTGTCAAATTCTTATTGGCTATGAGAGCTGCAGAGAGGTCCTCGCAGGCTGAGCTGGAGATGCGGCACCTCTTCAGCCTGGGGTGGAAAAGAGGAGAAAGGAGCTGGTCATTTCTTTTGCTCCAGTTTTGTGGATTATTTTCTTTTGCTTTTTTTTTTTTTTTCTGAGACAGAGTCGCTCTGTCACCCAGGCTGGAGAGCAGTGGCATGATTTTGGCTTACCACAACCTCTGCCTCCTGGGTTGAAGCAATCCTCCTGCCTTGGCCTCCTGAGTAGCTGGGCTTACAGACGTGTGCCACCATGCCTGGCTCATTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGGGTCAAGTGATCCTCCCCATCTGGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCATCATACCTGGCCAATATATTTATTTCAAAATATCATGTTATATATGATAAATTTTACCTGTCAAGAAAAGCAACAAGAACAATATAAAATGTTTTGATGCTTTGTAGTCAAATACATTCACAAAGGTTGCCCTTAAAGAAATTCAAGGCCATGTGCGGTGGCTCAAGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTATGACCAGCCTGGCCAACACAGTGAAACCCCATTTCTACTATAAACACAAAAATTAGCTGGGTGTGGTGATGCACCCCTGTAATCCCAGCTAATCAGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCGGAGGTTGCAGTGAGTCGAGATCATGTCACTGCACTCCAGCCCAGGCTACAGAGCAATACTATCTCAAAAAATAACATATGAAAAAAATTTGGCTAGGCACAGTGGCTCACACCTGTAATCTCAACAGTTAGGGAGGCTGAGGAAGGAGGATCACTTGAGGCCAGAAGTTTGAGACCAGTATGGGCAGCATGGTGAAACCCCATCTCTCCAAAACATACAAAAATTAGCCTGGTGTGGCTGGGCACGGTGGCTCAGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACGAGGTTAGAGATTGAGACCATCCTGGCTAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGCACCTGCCTGTAGTCCCAGCTACTCAGGAGGCCGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCTACTGCACTCCAGCCTGGTGACAAAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAAATTAGCCGGGTGTGGTTGCACATGCTTGTTTTCCCAGCTACTCGTGATGCTGGAGCAAGAGGATCGCTTGAGTCCAGGAGTTTGGGGCTGCAGTGAGCCATGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCATATCAGTGTCTCAAAAATTTAAAAAAAAAAAAAGTAAAAAAAAGAAAAAAATTTGGAGACCCACACAGCAGGATGACCATGTGAAGACAGAAGGCAGTGATCTGCAGGCCCAGGACAGAGGCCTCAGAAGAACTTAACCTGCCCACTCCTTGTCTTGGACTTCCAGCAGCCCCCCACCTGCCTTGAGAAAATAGATTTATGTGGTGAAGCCACCCAGTCTTTGGCACTTTTTTCCCCCCTGAGATGGAGTCTCACCGTATCACCCAGGCTGGAGTGCAGTGGCACAATCCCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGCAGCTGGGATTACAGGCGCCCGCCACCACACCCTCCTGATTTTTGTATTTTTTGTAGAGATGGCATTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCCGCCTTCACCTGTCAACATACTGGGATTACAGACGTGAGCCACGGCACCTGGCTTTGTGACACTTTTTTATGGCAGCCGTAGCCAACGAATACACCATCCCGTGATAGAACCTTTGTGACTGATCCCCATGAGAGGCCACGGTGGGGACCACCTGAAACGCCCAGACCAGCCTGCACTCACCTCAGGTTCTGAAGTTTGCAGTTGGGGTGTCTGAGTCCTTGACAGAGCAGCTTCACCCCCCGGCTGCCCAGGG | benign | 309,699 |
The chromosome 19, position 53805521 genetic variant in gene NLRP12 (NLR family pyrin domain containing 12): benign or pathogenic? If pathogenic, indicate disease(s). | benign | CCCGGCCCATCTCTGGAACTTTTTCATCTTCCGAAATGGAACCTCTGCTCCCGTTAAACGGTAACTCCCCATTTCTTCCTGTTCTAGGCCTTGGCAGCCACTATTCTACTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCGTGGCTGGAGTGCAGTGACGTGATCTCAGCTCACTGCAACTTCCGCCTCTCAGGTTCAAGTGATCCTCCTGCCTCAGCCCCCTGAGTAGCTGTGATTACAGGCGTGTGCCACCACATCCAGCTAATTTTTGTATCTTTAGTAGAGAGGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCTGCCCTCTTTGGCCTCCCAAAGTGCCGGGATTACAGGCGTGAGCCACTGCGCCCGACCTGTGGATGCATTTTTATACCATCATTCAATATGAAGAGATTTGCCATTTTATTATAGTTGACCCCAGGAAGAACTCACCACAAAGTCCGTAGTCTGCAGACTGGGTGCCTCAGTCCCTGGCATAGTAACCTCAGGCCCAAATCCTCCAGTGCATTTCCTGTCAGGTCCAACTCAACCAGATGTGGGTTGGTGCCGAGCACAGAAGCCATCTCCTGACAAGCCCCGGACTCCAGCTGACACTTCCTCAACCTTGGGAGGAAGGAGAGGTTGAAGGGGACGCCATCTTGCTTTTCTATGTCGTGATCACTCATGCTCCAGCCTGTTATTTTATTATTTAGGAACAGGTTGTTGCTCTGTCACCCAGGGTGAAGTTCAGTGGAGTGATATCAACTCGCTGAAGCCTCGACCTCCAGGCTCCCGTGATCCTCCTGCCTCAGCCTCCTGAGTAACTGGGAATACATGTGTGCACCACCACACCTGCCTAATTTTTTTTGTTTGTTTGTTTTTTGTTTTTTTTGGGTTTTTTTGTTTTTTTTTTTTTTTGAGGTAGAACCTCATTCTGTCACCCAGGCTGGAGTACAGTGGCGTGATCTTGCCTCACCGCAACCTCCACCTCCTGGGTTCAAGTGATTTTCATACCTCAGTCTCGAGTAGCTGGGACTACAGGCTGGGCTACAGGTGTGTGCCACCACGCCCAGCTAAGTTTTGCATTTTTAGTAGAGACGGGGTGTTTCTCCGTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTATAGACGTGAACCACCGCTCCTGGCCCATACCTGGCTAATTAAAAAAAAAAAATTTTTGTAGGTCGAGTGCAGTGGCTCACACCTGTAATTCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACGTGAGGAAACCCCATCTCTACTAAAAATACAAAAAAGTTAGCTGGGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGCCTGAGGCAGGAGAATCACTTGAACGCAGGAAGTGGGGGTTGCAGTGAGCCGAGATTGTGCCACTGCACCCCAACTTGGGCAACATAGCAAGACCCCGTCTCGGGAGAAAAAAAGAAGAGGTGGGGGATGGCCCCAGGGACTCTTCATCATGTAGAATTGAGTGTGGAGTCAGAGGAGGGCAGAAGCAGGTCTTCCAAAGTGCCTAGAGTCCAGGGCCAGGGTCTTAGGTCATGGGGTTAAGGGCCAGCCCTGATTTAAAGGTGGAGATTTGGGGATTACCAGCATTTTGTGATATTTCATGCCCCAGGAGACAATGAGCTTAAGAAGTTGCTCCCGGGGATAGAGACTCACTGAATCATCTGCAGCCTGCACTGGGGATGCCGCAGGCCCTCGCAAAGCAGCATCATGCCTGGGAATCCAACGCCGTTGCCACTGAGATCCATCCTTGTCAAATTCTTATTGGCTATGAGAGCTGCAGAGAGGTCCTCGCAGGCTGAGCTGGAGATGCGGCACCTCTTCAGCCTGGGGTGGAAAAGAGGAGAAAGGAGCTGGTCATTTCTTTTGCTCCAGTTTTGTGGATTATTTTCTTTTGCTTTTTTTTTTTTTTCTGAGACAGAGTCGCTCTGTCACCCAGGCTGGAGAGCAGTGGCATGATTTTGGCTTACCACAACCTCTGCCTCCTGGGTTGAAGCAATCCTCCTGCCTTGGCCTCCTGAGTAGCTGGGCTTACAGACGTGTGCCACCATGCCTGGCTCATTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGGGTCAAGTGATCCTCCCCATCTGGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCATCATACCTGGCCAATATATTTATTTCAAAATATCATGTTATATATGATAAATTTTACCTGTCAAGAAAAGCAACAAGAACAATATAAAATGTTTTGATGCTTTGTAGTCAAATACATTCACAAAGGTTGCCCTTAAAGAAATTCAAGGCCATGTGCGGTGGCTCAAGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTATGACCAGCCTGGCCAACACAGTGAAACCCCATTTCTACTATAAACACAAAAATTAGCTGGGTGTGGTGATGCACCCCTGTAATCCCAGCTAATCAGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCGGAGGTTGCAGTGAGTCGAGATCATGTCACTGCACTCCAGCCCAGGCTACAGAGCAATACTATCTCAAAAAATAACATATGAAAAAAATTTGGCTAGGCACAGTGGCTCACACCTGTAATCTCAACAGTTAGGGAGGCTGAGGAAGGAGGATCACTTGAGGCCAGAAGTTTGAGACCAGTATGGGCAGCATGGTGAAACCCCATCTCTCCAAAACATACAAAAATTAGCCTGGTGTGGCTGGGCACGGTGGCTCAGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACGAGGTTAGAGATTGAGACCATCCTGGCTAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGCACCTGCCTGTAGTCCCAGCTACTCAGGAGGCCGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCTACTGCACTCCAGCCTGGTGACAAAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAAATTAGCCGGGTGTGGTTGCACATGCTTGTTTTCCCAGCTACTCGTGATGCTGGAGCAAGAGGATCGCTTGAGTCCAGGAGTTTGGGGCTGCAGTGAGCCATGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCATATCAGTGTCTCAAAAATTTAAAAAAAAAAAAAGTAAAAAAAAGAAAAAAATTTGGAGACCCACACAGCAGGATGACCATGTGAAGACAGAAGGCAGTGATCTGCAGGCCCAGGACAGAGGCCTCAGAAGAACTTAACCTGCCCACTCCTTGTCTTGGACTTCCAGCAGCCCCCCACCTGCCTTGAGAAAATAGATTTATGTGGTGAAGCCACCCAGTCTTTGGCACTTTTTTCCCCCCTGAGATGGAGTCTCACCGTATCACCCAGGCTGGAGTGCAGTGGCACAATCCCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGCAGCTGGGATTACAGGCGCCCGCCACCACACCCTCCTGATTTTTGTATTTTTTGTAGAGATGGCATTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCCGCCTTCACCTGTCAACATACTGGGATTACAGACGTGAGCCACGGCACCTGGCTTTGTGACACTTTTTTATGGCAGCCGTAGCCAACGAATACACCATCCCGTGATAGAACCTTTGTGACTGATCCCCATGAGAGGCCACGGTGGGGACCACCTGAAACGCCCAGACCAGCCTGCACTCACCTCAGGTTCTGAAGTTTGCAGTTGGGGTGTCTGAGTCCTTGACAGAGCAGCTTCACCCCCCGGCTGCCCAGGGC | CCCGGCCCATCTCTGGAACTTTTTCATCTTCCGAAATGGAACCTCTGCTCCCGTTAAACGGTAACTCCCCATTTCTTCCTGTTCTAGGCCTTGGCAGCCACTATTCTACTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCGTGGCTGGAGTGCAGTGACGTGATCTCAGCTCACTGCAACTTCCGCCTCTCAGGTTCAAGTGATCCTCCTGCCTCAGCCCCCTGAGTAGCTGTGATTACAGGCGTGTGCCACCACATCCAGCTAATTTTTGTATCTTTAGTAGAGAGGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCTGCCCTCTTTGGCCTCCCAAAGTGCCGGGATTACAGGCGTGAGCCACTGCGCCCGACCTGTGGATGCATTTTTATACCATCATTCAATATGAAGAGATTTGCCATTTTATTATAGTTGACCCCAGGAAGAACTCACCACAAAGTCCGTAGTCTGCAGACTGGGTGCCTCAGTCCCTGGCATAGTAACCTCAGGCCCAAATCCTCCAGTGCATTTCCTGTCAGGTCCAACTCAACCAGATGTGGGTTGGTGCCGAGCACAGAAGCCATCTCCTGACAAGCCCCGGACTCCAGCTGACACTTCCTCAACCTTGGGAGGAAGGAGAGGTTGAAGGGGACGCCATCTTGCTTTTCTATGTCGTGATCACTCATGCTCCAGCCTGTTATTTTATTATTTAGGAACAGGTTGTTGCTCTGTCACCCAGGGTGAAGTTCAGTGGAGTGATATCAACTCGCTGAAGCCTCGACCTCCAGGCTCCCGTGATCCTCCTGCCTCAGCCTCCTGAGTAACTGGGAATACATGTGTGCACCACCACACCTGCCTAATTTTTTTTGTTTGTTTGTTTTTTGTTTTTTTTGGGTTTTTTTGTTTTTTTTTTTTTTTGAGGTAGAACCTCATTCTGTCACCCAGGCTGGAGTACAGTGGCGTGATCTTGCCTCACCGCAACCTCCACCTCCTGGGTTCAAGTGATTTTCATACCTCAGTCTCGAGTAGCTGGGACTACAGGCTGGGCTACAGGTGTGTGCCACCACGCCCAGCTAAGTTTTGCATTTTTAGTAGAGACGGGGTGTTTCTCCGTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTATAGACGTGAACCACCGCTCCTGGCCCATACCTGGCTAATTAAAAAAAAAAAATTTTTGTAGGTCGAGTGCAGTGGCTCACACCTGTAATTCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACGTGAGGAAACCCCATCTCTACTAAAAATACAAAAAAGTTAGCTGGGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGCCTGAGGCAGGAGAATCACTTGAACGCAGGAAGTGGGGGTTGCAGTGAGCCGAGATTGTGCCACTGCACCCCAACTTGGGCAACATAGCAAGACCCCGTCTCGGGAGAAAAAAAGAAGAGGTGGGGGATGGCCCCAGGGACTCTTCATCATGTAGAATTGAGTGTGGAGTCAGAGGAGGGCAGAAGCAGGTCTTCCAAAGTGCCTAGAGTCCAGGGCCAGGGTCTTAGGTCATGGGGTTAAGGGCCAGCCCTGATTTAAAGGTGGAGATTTGGGGATTACCAGCATTTTGTGATATTTCATGCCCCAGGAGACAATGAGCTTAAGAAGTTGCTCCCGGGGATAGAGACTCACTGAATCATCTGCAGCCTGCACTGGGGATGCCGCAGGCCCTCGCAAAGCAGCATCATGCCTGGGAATCCAACGCCGTTGCCACTGAGATCCATCCTTGTCAAATTCTTATTGGCTATGAGAGCTGCAGAGAGGTCCTCGCAGGCTGAGCTGGAGATGCGGCACCTCTTCAGCCTGGGGTGGAAAAGAGGAGAAAGGAGCTGGTCATTTCTTTTGCTCCAGTTTTGTGGATTATTTTCTTTTGCTTTTTTTTTTTTTTTTCTGAGACAGAGTCGCTCTGTCACCCAGGCTGGAGAGCAGTGGCATGATTTTGGCTTACCACAACCTCTGCCTCCTGGGTTGAAGCAATCCTCCTGCCTTGGCCTCCTGAGTAGCTGGGCTTACAGACGTGTGCCACCATGCCTGGCTCATTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGGGTCAAGTGATCCTCCCCATCTGGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCATCATACCTGGCCAATATATTTATTTCAAAATATCATGTTATATATGATAAATTTTACCTGTCAAGAAAAGCAACAAGAACAATATAAAATGTTTTGATGCTTTGTAGTCAAATACATTCACAAAGGTTGCCCTTAAAGAAATTCAAGGCCATGTGCGGTGGCTCAAGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTATGACCAGCCTGGCCAACACAGTGAAACCCCATTTCTACTATAAACACAAAAATTAGCTGGGTGTGGTGATGCACCCCTGTAATCCCAGCTAATCAGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCGGAGGTTGCAGTGAGTCGAGATCATGTCACTGCACTCCAGCCCAGGCTACAGAGCAATACTATCTCAAAAAATAACATATGAAAAAAATTTGGCTAGGCACAGTGGCTCACACCTGTAATCTCAACAGTTAGGGAGGCTGAGGAAGGAGGATCACTTGAGGCCAGAAGTTTGAGACCAGTATGGGCAGCATGGTGAAACCCCATCTCTCCAAAACATACAAAAATTAGCCTGGTGTGGCTGGGCACGGTGGCTCAGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACGAGGTTAGAGATTGAGACCATCCTGGCTAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGCACCTGCCTGTAGTCCCAGCTACTCAGGAGGCCGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCTACTGCACTCCAGCCTGGTGACAAAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAAATTAGCCGGGTGTGGTTGCACATGCTTGTTTTCCCAGCTACTCGTGATGCTGGAGCAAGAGGATCGCTTGAGTCCAGGAGTTTGGGGCTGCAGTGAGCCATGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCATATCAGTGTCTCAAAAATTTAAAAAAAAAAAAAGTAAAAAAAAGAAAAAAATTTGGAGACCCACACAGCAGGATGACCATGTGAAGACAGAAGGCAGTGATCTGCAGGCCCAGGACAGAGGCCTCAGAAGAACTTAACCTGCCCACTCCTTGTCTTGGACTTCCAGCAGCCCCCCACCTGCCTTGAGAAAATAGATTTATGTGGTGAAGCCACCCAGTCTTTGGCACTTTTTTCCCCCCTGAGATGGAGTCTCACCGTATCACCCAGGCTGGAGTGCAGTGGCACAATCCCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGCAGCTGGGATTACAGGCGCCCGCCACCACACCCTCCTGATTTTTGTATTTTTTGTAGAGATGGCATTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCCGCCTTCACCTGTCAACATACTGGGATTACAGACGTGAGCCACGGCACCTGGCTTTGTGACACTTTTTTATGGCAGCCGTAGCCAACGAATACACCATCCCGTGATAGAACCTTTGTGACTGATCCCCATGAGAGGCCACGGTGGGGACCACCTGAAACGCCCAGACCAGCCTGCACTCACCTCAGGTTCTGAAGTTTGCAGTTGGGGTGTCTGAGTCCTTGACAGAGCAGCTTCACCCCCCGGCTGCCCAGG | benign | 309,700 |
A genetic variant on chromosome 19, position 53807551, affects the gene NLRP12 (NLR family pyrin domain containing 12). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Autoinflammatory_syndrome'] | GTGGATTATTTTCTTTTGCTTTTTTTTTTTTTTCTGAGACAGAGTCGCTCTGTCACCCAGGCTGGAGAGCAGTGGCATGATTTTGGCTTACCACAACCTCTGCCTCCTGGGTTGAAGCAATCCTCCTGCCTTGGCCTCCTGAGTAGCTGGGCTTACAGACGTGTGCCACCATGCCTGGCTCATTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGGGTCAAGTGATCCTCCCCATCTGGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCATCATACCTGGCCAATATATTTATTTCAAAATATCATGTTATATATGATAAATTTTACCTGTCAAGAAAAGCAACAAGAACAATATAAAATGTTTTGATGCTTTGTAGTCAAATACATTCACAAAGGTTGCCCTTAAAGAAATTCAAGGCCATGTGCGGTGGCTCAAGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTATGACCAGCCTGGCCAACACAGTGAAACCCCATTTCTACTATAAACACAAAAATTAGCTGGGTGTGGTGATGCACCCCTGTAATCCCAGCTAATCAGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCGGAGGTTGCAGTGAGTCGAGATCATGTCACTGCACTCCAGCCCAGGCTACAGAGCAATACTATCTCAAAAAATAACATATGAAAAAAATTTGGCTAGGCACAGTGGCTCACACCTGTAATCTCAACAGTTAGGGAGGCTGAGGAAGGAGGATCACTTGAGGCCAGAAGTTTGAGACCAGTATGGGCAGCATGGTGAAACCCCATCTCTCCAAAACATACAAAAATTAGCCTGGTGTGGCTGGGCACGGTGGCTCAGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACGAGGTTAGAGATTGAGACCATCCTGGCTAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGCACCTGCCTGTAGTCCCAGCTACTCAGGAGGCCGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCTACTGCACTCCAGCCTGGTGACAAAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAAATTAGCCGGGTGTGGTTGCACATGCTTGTTTTCCCAGCTACTCGTGATGCTGGAGCAAGAGGATCGCTTGAGTCCAGGAGTTTGGGGCTGCAGTGAGCCATGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCATATCAGTGTCTCAAAAATTTAAAAAAAAAAAAAGTAAAAAAAAGAAAAAAATTTGGAGACCCACACAGCAGGATGACCATGTGAAGACAGAAGGCAGTGATCTGCAGGCCCAGGACAGAGGCCTCAGAAGAACTTAACCTGCCCACTCCTTGTCTTGGACTTCCAGCAGCCCCCCACCTGCCTTGAGAAAATAGATTTATGTGGTGAAGCCACCCAGTCTTTGGCACTTTTTTCCCCCCTGAGATGGAGTCTCACCGTATCACCCAGGCTGGAGTGCAGTGGCACAATCCCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGCAGCTGGGATTACAGGCGCCCGCCACCACACCCTCCTGATTTTTGTATTTTTTGTAGAGATGGCATTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCCGCCTTCACCTGTCAACATACTGGGATTACAGACGTGAGCCACGGCACCTGGCTTTGTGACACTTTTTTATGGCAGCCGTAGCCAACGAATACACCATCCCGTGATAGAACCTTTGTGACTGATCCCCATGAGAGGCCACGGTGGGGACCACCTGAAACGCCCAGACCAGCCTGCACTCACCTCAGGTTCTGAAGTTTGCAGTTGGGGTGTCTGAGTCCTTGACAGAGCAGCTTCACCCCCCGGCTGCCCAGGGCATTTCGGTACAGAGACAGCTCTATCAGGTTTGGATTGGTGCACAGGGCCGCTGCCAGATGTTCACTGTAGGCGTCCAGCAGAACGGTCCTCTCTGGTCTGCTTGAAGGAAAGACAGGCCACTCTCTGGTGTTACTGGTGCTTGACAACTATGGCCTTTGCATGTCATTTCACCGTTTATGAAGCATGCTATCCTTTTTTGAGACGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCAATCTCAGCTCACCACAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGCATGAGCCACCACGCCCAGTTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGATCTCGTACTCCTGACCTCAGGTGATCTGCCCGCCTCAACCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCACATCCGGCCAAAGCATGCTATCTTTTCATTTTTTTTTTTAGAGGGCCTTGCCCTGTTGTCTAGGCTGGAGTGCATGGTGAGATCATGGCTCACTGTAGGCTTGACCTCCCAGGCTTAAGCAATCCTCCCACCTCAGCCTACTGAGAAGCTGGGGCTACAGGTGTGCACCATCATGACCAGCTAATTTATTTTATATTTTTAGAGATGGGGATCTCATCATGTTGTCCAGGCTGCACCTGGCTCTATCTGACGCTCCTAATCATTGATAGTTGGTTTACTTGTTTCCCTCTTTATTATCTGTCTCCGTTCTCATTAGGATGCGTGCTCTCTTGGGACCATTGGCTTATTCACACAGTCTTCTGTCTACAGAAGATTGTTGGGTCCACCGATAAAAGGGATATAGAGGCTGGGTGTGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCTGAGGCCGAGAGTTTGAGACCAGCCTGGCCAACATGGTGACACCCCATCTCTACTAAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACACTCCTGTGGTCCCAGCTGCTCAGGAGGCTGAGACACGCAAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCCCTGCACTCCAGCCTTGGTGACAGAGCCACACTCTCTCAAGAAAAAGGGACTTAGTAATATTTGTTGATTGAATAAATTCTCCCAGACATCGACCTCAATTTAGTCCCAATGGGTGTTGTTTAGTCTTTGTGGCACTATTGACACTTTGGGGCCAGAGGGACTGTCCTGTGTACTGTAGGATGTTTGCAGCATTCCCGGCCTTTATCCACTAGATGTCAGTAGTATTATTTGCTTCCCAGTTGTGACCACCAAAAACGTGTCTCCAAACATCGCCAAATGTCAGAGCAAAATCACCCCCAGCTGAGAGGCACTGGTTAAGAGCATGAACCTCAAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAACACAGCGAAACCCCATCTCCACTAAAAATACAAAAATTATCCTGGCATGGTGATGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGCTGCAGTGAGCCAAGATTGCGCCACTGCACACCAGCCTAGGAGACCAAGAGAGACTTAGTTTAAAAAAAAAAAAAAAAAAAAATCGTGGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAAGAGATCGAGACCACCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGGTGGGCGTGGTGGCGTGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCTCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGGTCACGCCAGTGTACTCCAGCCTAGGCAACAGAGCAAAAAAAAAAAAAAAAAAAAAAAACACACGAACCTAAGCAGCCCCAGGGGATACCCCAGGGATACTTACAGCTGCACCAAC | GTGGATTATTTTCTTTTGCTTTTTTTTTTTTTTCTGAGACAGAGTCGCTCTGTCACCCAGGCTGGAGAGCAGTGGCATGATTTTGGCTTACCACAACCTCTGCCTCCTGGGTTGAAGCAATCCTCCTGCCTTGGCCTCCTGAGTAGCTGGGCTTACAGACGTGTGCCACCATGCCTGGCTCATTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGGGTCAAGTGATCCTCCCCATCTGGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCATCATACCTGGCCAATATATTTATTTCAAAATATCATGTTATATATGATAAATTTTACCTGTCAAGAAAAGCAACAAGAACAATATAAAATGTTTTGATGCTTTGTAGTCAAATACATTCACAAAGGTTGCCCTTAAAGAAATTCAAGGCCATGTGCGGTGGCTCAAGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTATGACCAGCCTGGCCAACACAGTGAAACCCCATTTCTACTATAAACACAAAAATTAGCTGGGTGTGGTGATGCACCCCTGTAATCCCAGCTAATCAGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCGGAGGTTGCAGTGAGTCGAGATCATGTCACTGCACTCCAGCCCAGGCTACAGAGCAATACTATCTCAAAAAATAACATATGAAAAAAATTTGGCTAGGCACAGTGGCTCACACCTGTAATCTCAACAGTTAGGGAGGCTGAGGAAGGAGGATCACTTGAGGCCAGAAGTTTGAGACCAGTATGGGCAGCATGGTGAAACCCCATCTCTCCAAAACATACAAAAATTAGCCTGGTGTGGCTGGGCACGGTGGCTCAGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACGAGGTTAGAGATTGAGACCATCCTGGCTAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGCACCTGCCTGTAGTCCCAGCTACTCAGGAGGCCGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCTACTGCACTCCAGCCTGGTGACAAAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAAATTAGCCGGGTGTGGTTGCACATGCTTGTTTTCCCAGCTACTCGTGATGCTGGAGCAAGAGGATCGCTTGAGTCCAGGAGTTTGGGGCTGCAGTGAGCCATGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCATATCAGTGTCTCAAAAATTTAAAAAAAAAAAAAGTAAAAAAAAGAAAAAAATTTGGAGACCCACACAGCAGGATGACCATGTGAAGACAGAAGGCAGTGATCTGCAGGCCCAGGACAGAGGCCTCAGAAGAACTTAACCTGCCCACTCCTTGTCTTGGACTTCCAGCAGCCCCCCACCTGCCTTGAGAAAATAGATTTATGTGGTGAAGCCACCCAGTCTTTGGCACTTTTTTCCCCCCTGAGATGGAGTCTCACCGTATCACCCAGGCTGGAGTGCAGTGGCACAATCCCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGCAGCTGGGATTACAGGCGCCCGCCACCACACCCTCCTGATTTTTGTATTTTTTGTAGAGATGGCATTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCCGCCTTCACCTGTCAACATACTGGGATTACAGACGTGAGCCACGGCACCTGGCTTTGTGACACTTTTTTATGGCAGCCGTAGCCAACGAATACACCATCCCGTGATAGAACCTTTGTGACTGATCCCCATGAGAGGCCACGGTGGGGACCACCTGAAACGCCCAGACCAGCCTGCACTCACCTCAGGTTCTGAAGTTTGCAGTTGGGGTGTCTGAGTCCTTGACAGAGCAGCTTCACCAACCCCGGCTGCCCAGGGCATTTCGGTACAGAGACAGCTCTATCAGGTTTGGATTGGTGCACAGGGCCGCTGCCAGATGTTCACTGTAGGCGTCCAGCAGAACGGTCCTCTCTGGTCTGCTTGAAGGAAAGACAGGCCACTCTCTGGTGTTACTGGTGCTTGACAACTATGGCCTTTGCATGTCATTTCACCGTTTATGAAGCATGCTATCCTTTTTTGAGACGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCAATCTCAGCTCACCACAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGCATGAGCCACCACGCCCAGTTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGATCTCGTACTCCTGACCTCAGGTGATCTGCCCGCCTCAACCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCACATCCGGCCAAAGCATGCTATCTTTTCATTTTTTTTTTTAGAGGGCCTTGCCCTGTTGTCTAGGCTGGAGTGCATGGTGAGATCATGGCTCACTGTAGGCTTGACCTCCCAGGCTTAAGCAATCCTCCCACCTCAGCCTACTGAGAAGCTGGGGCTACAGGTGTGCACCATCATGACCAGCTAATTTATTTTATATTTTTAGAGATGGGGATCTCATCATGTTGTCCAGGCTGCACCTGGCTCTATCTGACGCTCCTAATCATTGATAGTTGGTTTACTTGTTTCCCTCTTTATTATCTGTCTCCGTTCTCATTAGGATGCGTGCTCTCTTGGGACCATTGGCTTATTCACACAGTCTTCTGTCTACAGAAGATTGTTGGGTCCACCGATAAAAGGGATATAGAGGCTGGGTGTGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCTGAGGCCGAGAGTTTGAGACCAGCCTGGCCAACATGGTGACACCCCATCTCTACTAAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACACTCCTGTGGTCCCAGCTGCTCAGGAGGCTGAGACACGCAAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCCCTGCACTCCAGCCTTGGTGACAGAGCCACACTCTCTCAAGAAAAAGGGACTTAGTAATATTTGTTGATTGAATAAATTCTCCCAGACATCGACCTCAATTTAGTCCCAATGGGTGTTGTTTAGTCTTTGTGGCACTATTGACACTTTGGGGCCAGAGGGACTGTCCTGTGTACTGTAGGATGTTTGCAGCATTCCCGGCCTTTATCCACTAGATGTCAGTAGTATTATTTGCTTCCCAGTTGTGACCACCAAAAACGTGTCTCCAAACATCGCCAAATGTCAGAGCAAAATCACCCCCAGCTGAGAGGCACTGGTTAAGAGCATGAACCTCAAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAACACAGCGAAACCCCATCTCCACTAAAAATACAAAAATTATCCTGGCATGGTGATGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGCTGCAGTGAGCCAAGATTGCGCCACTGCACACCAGCCTAGGAGACCAAGAGAGACTTAGTTTAAAAAAAAAAAAAAAAAAAAATCGTGGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAAGAGATCGAGACCACCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGGTGGGCGTGGTGGCGTGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCTCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGGTCACGCCAGTGTACTCCAGCCTAGGCAACAGAGCAAAAAAAAAAAAAAAAAAAAAAAACACACGAACCTAAGCAGCCCCAGGGGATACCCCAGGGATACTTACAGCTGCACCA | pathogenic | 309,703 |
Chromosome 19, position 53810542, gene NLRP12 (NLR family pyrin domain containing 12): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Familial_cold_autoinflammatory_syndrome_2'] | AGGCCGAGAGTTTGAGACCAGCCTGGCCAACATGGTGACACCCCATCTCTACTAAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACACTCCTGTGGTCCCAGCTGCTCAGGAGGCTGAGACACGCAAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCCCTGCACTCCAGCCTTGGTGACAGAGCCACACTCTCTCAAGAAAAAGGGACTTAGTAATATTTGTTGATTGAATAAATTCTCCCAGACATCGACCTCAATTTAGTCCCAATGGGTGTTGTTTAGTCTTTGTGGCACTATTGACACTTTGGGGCCAGAGGGACTGTCCTGTGTACTGTAGGATGTTTGCAGCATTCCCGGCCTTTATCCACTAGATGTCAGTAGTATTATTTGCTTCCCAGTTGTGACCACCAAAAACGTGTCTCCAAACATCGCCAAATGTCAGAGCAAAATCACCCCCAGCTGAGAGGCACTGGTTAAGAGCATGAACCTCAAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAACACAGCGAAACCCCATCTCCACTAAAAATACAAAAATTATCCTGGCATGGTGATGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGCTGCAGTGAGCCAAGATTGCGCCACTGCACACCAGCCTAGGAGACCAAGAGAGACTTAGTTTAAAAAAAAAAAAAAAAAAAAATCGTGGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAAGAGATCGAGACCACCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGGTGGGCGTGGTGGCGTGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCTCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGGTCACGCCAGTGTACTCCAGCCTAGGCAACAGAGCAAAAAAAAAAAAAAAAAAAAAAAACACACGAACCTAAGCAGCCCCAGGGGATACCCCAGGGATACTTACAGCTGCACCAACAGCGTGTGCGCTCCTGCGGAGCACCTCGCGCGGTCTTCCCCGTCCGCGCTGTAGGTGGCGCCATACAAGTGCAGCACCTGGGCGCTCCTGCAGCGCTTCAGACAGAACGAGGAGACCATGTGCTCCATCTTGGAGGCAATGTTGCTGACCACGATCACCTGGAAGTGGCTCAGGGCCTGCTGGATAAACTCCTCCTCCTGGATCTCGTACAAGCAGCTGAAGAACTCCAAGGAGCCCTGCTGCAGGGTGGAGCCGTCGCTCTGAGCTTTGCTTTGGATCCACTGCAACAGGTCCATCTTGATGTGCGGCGAGACCTTCCAGCAGAGACTCTTCTCCAGGTGGCTCCTGGTCTCCTCGTTCAGGAGTCCAAACAGGAAGCGGCTGGTGAGTGCCAGGAAGCTCCTTTCAGAAAACGCGTACTCGGTCAACAGCCTGGTCACGTCCTGGTCTGGGCCTGCCCCGCCCTCCCCCTCGTCCAGGATATAGTACATAGCTGCAAAGAATTCCTGGAAACTCAAGTGGATGAAGCTGTAGTACCTCTCACAGTTGATGTCCTTCTGGAAGATGTTCATGTTGAGGAAGGCAGAGACGTCTTCCCCGTCTAGGCCGTGCTTCCGGAGGTCCTGCTCCTCAAATAGGATTTTCTGATTCCAGAGCCCATCTGCCGCCAAGGAGCACAACCCTCTCTGGTTGGGTGGGGGCTGGAGGCGCGGGGCCCCCGGCTTGGGTTGCATCAGACTCAGCAGGTAGAGCATGTACACTGCAGTGGTGGTCCTGGACGTCTGTCTCAACAGCCCCCCACCCTCCAGCTGCTGCTGGAGGCAGGTACACACCACCCAGCACACCAGGGGGACGAAGCACATGGTGAAGAGAGGCTCGTTGTCCCTCACGTAATTGAAGACTTGGCCCGCCTGCTCTGCATTGTGGAAATACTTGTAGAAGTATTCCTTCCTTTCTGCCTCAGAGAAGCCCAGGATCTCCACATGCCTGGGGTGCTCCAGCAGACGGTGGAGCTTCTCCAAAGCCGTGGGCCGTGTGGTGATGAGCAAAGATAGCTCAGGGAGCAGCTTCTTCCGAATTAAGCTGTTAAGAAGCAGCTCCGTGGGCCGTTTCTCCTCCCAGCAGAGGCACCAGGGTCCCTGAGGATCGTGGAAAGAAGGCTTGAGCTCATCGAAGCCGTCGATGATGAAAAGGAGGCGCTCGGGAACTCGGATGAGCTCCTGGAGAGGCGCGCTGGGCTCAGGCCAGCAGCTGAAGATGAGGTCTTGCATGCTGCATTCCGTGGCACTCTGGTTCATCTCCCTGCAGTTGATGTAGAAGAGATAATCAAATCTGCCTTGGAAGAGCTTCCCGTCCGCCCAGTCCAGCATCACCTTGTGTGCCAGCATGGACTTGCCTATCCCTGCCGCGCCTTGCATGACCACGGTGCGCGGTGGCTCGGGGCGCTCCTCGTCTGGCTCAAAGAGGGTCTCTATCTTGATGGGGCTAGCCTGGTGTCCCACGGTCCTCGCGTGTCCCCGGCCTGTGTCCAGAAGCTGCTGCTGGACCTGCATGGGGTTTGAGTGCTCCTTCACCAGCAGGAGCCGGGTGTACCGGTGGCTGAGGTTGACACATTCCCCTAGGCGCGCATTGCGGTCTTCCATGAGCCGGAATTTCCTGCGGACATAGTCCCTGTAGGTTTCCTGGGGATCTAGGGGAGAGGAATGAAGGTTTTGTGGAAGACTCATCAGCAGCCTCTAATGAGTTCACGAGGTAAAGCGCTCCTCATGTGGCTCAAAGAAGGTGTGTGCCTGTAGTTCCAGCTACTCAGGAGGCTGAGATGGGAGAATCACTTGAACCCCTGAGGTGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCATCTCAAAAAAAAATTTTTTTTAATTAAAATAATTTATTTGTTTTGAGACTAGGTTATAAGACTGGCTAATTTTTTTTTTTTTTAGATGGAGTCTCGCTCTGTTGCCCAGCTTGGAGTGCAATGGTGTGCTCCCTGCAACATCCACCTCCTGGGTTCAAGTGATTCTCCAGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACATGCCACCAGGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCATGATCTGCCCACCTCGGCCTTCCAAAGTGCTAGGATTAGAGGCATGAGCCACTGTGTCCAGCCCCACAAAGTGACTTTCAGCAAAGGATTTATAGAACGGGTACATTACCAGATAGTGCAGACATGAATCTGCCTTTTTTCAAAGGGGGCACAAGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCCAGGTGGGAGGATCGCCTGAACTCAGGAGTTTGAGACCAGCCGGAGCAACATAGTGAGACCCTGTCTCTATAAAAACAAAAGAAAGAGAAAACAAAGGGGGCACAGAAAACTTGGGAGCAGTGCTTCTCAAACTTTTTTTTTTTTTCAGTACAGACAGGGTCTTGCTGTGTTATCCAGGCTGGTCTACAACTACTAGCCTCAAACAATCCTCCTGCCTGAGCCCCGCAAAATGCTGAGATTACAGGCATGAACCACCATGCCTGGCTGTGCTTCTCCAACTTTAAGACGCATACATATCATGCAGCAATCTTGTTAGAAATGCAGTCCCTGGGCTAAGTGCAGTGGCTCACACCTGTAAGAGATCGCCCCACTGCACTCCAGCCTGGGCGACAGCGTGAGACTCTGCCTCAAAAAAAAAAAAAAAAAATCTAGAACAATGTTCTTAATTGGGGTGACTGTGTCCCCTAGTTCCCCAGGGGACATTTGGCAACGGGACAAGTGGGTTGGTTGTTACAACTGGGAAAGTACTACTGCCACATAGTGGATAGAGGCCAGAGGTGCTGCTCAACATCCCAGGAACCACAGG | AGGCCGAGAGTTTGAGACCAGCCTGGCCAACATGGTGACACCCCATCTCTACTAAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACACTCCTGTGGTCCCAGCTGCTCAGGAGGCTGAGACACGCAAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCCCTGCACTCCAGCCTTGGTGACAGAGCCACACTCTCTCAAGAAAAAGGGACTTAGTAATATTTGTTGATTGAATAAATTCTCCCAGACATCGACCTCAATTTAGTCCCAATGGGTGTTGTTTAGTCTTTGTGGCACTATTGACACTTTGGGGCCAGAGGGACTGTCCTGTGTACTGTAGGATGTTTGCAGCATTCCCGGCCTTTATCCACTAGATGTCAGTAGTATTATTTGCTTCCCAGTTGTGACCACCAAAAACGTGTCTCCAAACATCGCCAAATGTCAGAGCAAAATCACCCCCAGCTGAGAGGCACTGGTTAAGAGCATGAACCTCAAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAACACAGCGAAACCCCATCTCCACTAAAAATACAAAAATTATCCTGGCATGGTGATGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGCTGCAGTGAGCCAAGATTGCGCCACTGCACACCAGCCTAGGAGACCAAGAGAGACTTAGTTTAAAAAAAAAAAAAAAAAAAAATCGTGGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAAGAGATCGAGACCACCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGGTGGGCGTGGTGGCGTGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCTCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGGTCACGCCAGTGTACTCCAGCCTAGGCAACAGAGCAAAAAAAAAAAAAAAAAAAAAAAACACACGAACCTAAGCAGCCCCAGGGGATACCCCAGGGATACTTACAGCTGCACCAACAGCGTGTGCGCTCCTGCGGAGCACCTCGCGCGGTCTTCCCCGTCCGCGCTGTAGGTGGCGCCATACAAGTGCAGCACCTGGGCGCTCCTGCAGCGCTTCAGACAGAACGAGGAGACCATGTGCTCCATCTTGGAGGCAATGTTGCTGACCACGATCACCTGGAAGTGGCTCAGGGCCTGCTGGATAAACTCCTCCTCCTGGATCTCGTACAAGCAGCTGAAGAACTCCAAGGAGCCCTGCTGCAGGGTGGAGCCGTCGCTCTGAGCTTTGCTTTGGATCCACTGCAACAGGTCCATCTTGATGTGCGGCGAGACCTTCCAGCAGAGACTCTTCTCCAGGTGGCTCCTGGTCTCCTCGTTCAGGAGTCCAAACAGGAAGCGGCTGGTGAGTGCCAGGAAGCTCCTTTCAGAAAACGCGTACTCGGTCAACAGCCTGGTCACGTCCTGGTCTGGGCCTGCCCCGCCCTCCCCCTCGTCCAGGATATAGTACATAGCTGCAAAGAATTCCTGGAAACTCAAGTGGATGAAGCTGTAGTACCTCTCACAGTTGATGTCCTTCTGGAAGATGTTCATGTTGAGGAAGGCAGAGACGTCTTCCCCGTCTAGGCCGTGCTTCCGGAGGTCCTGCTCCTCAAATAGGATTTTCTGATTCCAGAGCCCATCTGCCGCCAAGGAGCACAACCCTCTCTGGTTGGGTGGGGGCTGGAGGCGCGGGGCCCCCGGCTTGGGTTGCATCAGACTCAGCAGGTAGAGCATGTACACTGCAGTGGTGGTCCTGGACGTCTGTCTCAACAGCCCCCCACCCTCCAGCTGCTGCTGGAGGCAGGTACACACCACCCAGCACACCAGGGGGACGAAGCACATGGTGAAGAGAGGCTCGTTGTCCCTCACGTAATTGAAGACTTGGCCCGCCTGCTCTGCATTGTGGAAATACTTGTAGAAGTATTCCTTTCTGCCTCAGAGAAGCCCAGGATCTCCACATGCCTGGGGTGCTCCAGCAGACGGTGGAGCTTCTCCAAAGCCGTGGGCCGTGTGGTGATGAGCAAAGATAGCTCAGGGAGCAGCTTCTTCCGAATTAAGCTGTTAAGAAGCAGCTCCGTGGGCCGTTTCTCCTCCCAGCAGAGGCACCAGGGTCCCTGAGGATCGTGGAAAGAAGGCTTGAGCTCATCGAAGCCGTCGATGATGAAAAGGAGGCGCTCGGGAACTCGGATGAGCTCCTGGAGAGGCGCGCTGGGCTCAGGCCAGCAGCTGAAGATGAGGTCTTGCATGCTGCATTCCGTGGCACTCTGGTTCATCTCCCTGCAGTTGATGTAGAAGAGATAATCAAATCTGCCTTGGAAGAGCTTCCCGTCCGCCCAGTCCAGCATCACCTTGTGTGCCAGCATGGACTTGCCTATCCCTGCCGCGCCTTGCATGACCACGGTGCGCGGTGGCTCGGGGCGCTCCTCGTCTGGCTCAAAGAGGGTCTCTATCTTGATGGGGCTAGCCTGGTGTCCCACGGTCCTCGCGTGTCCCCGGCCTGTGTCCAGAAGCTGCTGCTGGACCTGCATGGGGTTTGAGTGCTCCTTCACCAGCAGGAGCCGGGTGTACCGGTGGCTGAGGTTGACACATTCCCCTAGGCGCGCATTGCGGTCTTCCATGAGCCGGAATTTCCTGCGGACATAGTCCCTGTAGGTTTCCTGGGGATCTAGGGGAGAGGAATGAAGGTTTTGTGGAAGACTCATCAGCAGCCTCTAATGAGTTCACGAGGTAAAGCGCTCCTCATGTGGCTCAAAGAAGGTGTGTGCCTGTAGTTCCAGCTACTCAGGAGGCTGAGATGGGAGAATCACTTGAACCCCTGAGGTGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCATCTCAAAAAAAAATTTTTTTTAATTAAAATAATTTATTTGTTTTGAGACTAGGTTATAAGACTGGCTAATTTTTTTTTTTTTTAGATGGAGTCTCGCTCTGTTGCCCAGCTTGGAGTGCAATGGTGTGCTCCCTGCAACATCCACCTCCTGGGTTCAAGTGATTCTCCAGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACATGCCACCAGGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCATGATCTGCCCACCTCGGCCTTCCAAAGTGCTAGGATTAGAGGCATGAGCCACTGTGTCCAGCCCCACAAAGTGACTTTCAGCAAAGGATTTATAGAACGGGTACATTACCAGATAGTGCAGACATGAATCTGCCTTTTTTCAAAGGGGGCACAAGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCCAGGTGGGAGGATCGCCTGAACTCAGGAGTTTGAGACCAGCCGGAGCAACATAGTGAGACCCTGTCTCTATAAAAACAAAAGAAAGAGAAAACAAAGGGGGCACAGAAAACTTGGGAGCAGTGCTTCTCAAACTTTTTTTTTTTTTCAGTACAGACAGGGTCTTGCTGTGTTATCCAGGCTGGTCTACAACTACTAGCCTCAAACAATCCTCCTGCCTGAGCCCCGCAAAATGCTGAGATTACAGGCATGAACCACCATGCCTGGCTGTGCTTCTCCAACTTTAAGACGCATACATATCATGCAGCAATCTTGTTAGAAATGCAGTCCCTGGGCTAAGTGCAGTGGCTCACACCTGTAAGAGATCGCCCCACTGCACTCCAGCCTGGGCGACAGCGTGAGACTCTGCCTCAAAAAAAAAAAAAAAAAATCTAGAACAATGTTCTTAATTGGGGTGACTGTGTCCCCTAGTTCCCCAGGGGACATTTGGCAACGGGACAAGTGGGTTGGTTGTTACAACTGGGAAAGTACTACTGCCACATAGTGGATAGAGGCCAGAGGTGCTGCTCAACATCCCAGGAACCACAGGNNNN | pathogenic | 309,725 |
Variant chromosome 19, position 54118358, gene PRPF31 (pre-mRNA processing factor 31): benign or pathogenic? Disease(s)? | pathogenic; ['Retinitis_pigmentosa'] | TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCGCACCACCACGCCCGGCTAGTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAGATGATCCACCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCTCCCGGCCTTTTACAGCCTGTTTACCCAAAAGTCTTAATATGCGCCTACCATGGTGTGGCCCTGGGGATGTGGAAGGAGCAAAAATTGTTCGCTACCCTCTTAGAGCTTTGGTTGATGCCTGGCAGACAGGCTTTATCAAATAATTACTTCATTAATCACAAATGTGTGAAGTGCCTTACTGTAGACACGCAGAGCGTGCGGGACACGTTATCACAAAGCAACCTCCTGTAGTCTAGAGTGGGGCGTGTGGGTCAGGGAGGTGGAACGTGAGAGCTGAAGGCTGAGGAGATGCTGGGCTACTAAGAAGTGAGGAGAGCCAGACGCCATGGCTCACTCCTGTAATCCCAGCACTTTGGGTGGCCCAGGCGAAAGGATCGCTTGAGCCCAGGAGTTTGAGACCAGCCTGAGCAACACAGTGAGACCCTGTCTCTACAGAAAAATTTAAAAATTAGCCGGGCGTGCTGGTGCGTGCCTGTCATCTCAGCTATCGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGTGATCGAGGCTGCCGTGAGCTATGATGGCGCCACTGCACTGCAGCCTAGGTGACAGAGCAAGACATGGTCTCAAAAAAAAGAAAAGAAAAGAAAAAACAAAGTGAAGGAAAGGGCCACTTTAGTTACAAGGGACTCCTGTACAAAGACCTGGAGGCGGGAAGAGACCGATAATGTAACCAACTCAAGTTTCTGCTACTCAGAGGCAGAGGAAGTGGGGGGTGGTGAAAGTAAAGCAGCTTTACTGATCAAATGCTCGCAGATGAGAAATGGCCAAGCTAATGTCTTTAGAAGACCATTTCAAGCTTTAGGCTGGGGAGAGGGGCTTAAAAAGGGGAACTTTGAATGGGAGGCATACAGGAGTGGTGCTGGGTACAAGGTATGTGTGTCTTGCTCCGAAGGCTGTCTTGAGTCACGGGCCACCTGGAGCATGGGCTGGTGTCAAGTCAACAATGGCCACGTTGTAGATTGATCGCCTTGAGGTGATCTCTGGAGTTTTGCAGCTGGGTTTCCATACCTAGTTTGTTTCAAGATTAGCCCCTGCGGCGAGGCGCGGTGGCTTACGCCTGTAATCCCAACAGTTTGGGAGGCCAAGGTGGGTCGCTCACTTGAGGTCAAGAGTTCAAGACCAGCCTGGCTTACATAGTGAAACCTTGACTCTACAAAAAAAAAAAAAAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAAGTGAGCCAAGACTGCGCCACTGCACTCCAACCTGGGTGTCAGAGCCAGACTCCATCTTTAAAAAATAAATAAATAAAGATTAGCCCCTGGAACTTCTAAGTAAGCACATAGATAAGCCAGCAGTGCAAGACAGTATCTAGTGGGAAAGGAGGGAAACAAAGAATTTCAAAGTATGTTTTCAAGGCTAAAGGCAAGAAAGGAATAAGAAAGTTTGCAAATGCATTTGGAATCTACACCACTTGGTTCCAGTAAGTCTTAGCAAGGTGGCGGTCATAGGGGTGTGCTGCGTCTTGCACAGGTCGGAGCTGGAGACTCGCCAGTGAACAAAACAAACTAAAGCACCTGTTGTCGTGGAGCCTGCATGCTAGTGGGGTTGATAAAGAAGGACCAGGGTCTTCTGGGGGAGAATCATCGCTCAGTAATAAGGAGGGACTTTGTCGGGGCAAGTTTTTAGGGAACGCTGCTGTCCCTCCCCAGGCCTCGGGATGTCTCTGGCAGATGAGCTCTTAGCTGATCTCGAAGAGGCAGCAGAAGAGGAGGAAGGAGGAAGCTATGGGGAGGAAGAAGAGGAGCCAGCGATCGAGGATGTGCAGGAGGAGACACAGCTGGATCTTTCCGGGGATTCAGTCAAGACCATCGCCAAGCTATGGGATAGTAAGATGGTAAGAGGACAAGAGGTGTTCCTAGCAGGGGGCTCTAGACAGAATCTCCCAGAAGGGGGTGATACAGGCTTCTTTTTGAAGAGTGCTGGATTCTGACTGTCTTCTCCTTTCCTACAGTTTGCTGAGATTATGATGAAGATTGAGGAGTATATCAGCAAGCAAGCCAAAGCTTCAGAAGGTGCTTCCTCCCACTCTGTGCCCCTCCCCATCTCCTGTCTCTCCTGCCAGGCCCCCTGGCTCCCTGGCTGCTTGTGGCTGGGTATATCTCCTTCTCAGCCTTTTCCAGAGCCTTCTTTTTTTTTTGTTTCACCCCAACCCGTTCCCTTTTCCACTAAATATATATTGCATTGTAAAGCTCATGCTTCTTAAGTCCTTCCTGTGTGCTGAGCTTACTGATCATGATAGGACTCAGCTTGAGGTTTCCCAGACTTCACTGATTCACATGACCGGTTACAGGGTTTTTGCCACATCTATAAGCCGCTTATCCTATTATTTGCTTAACATATTCTTTGAGTCTAGGACTTTTTTTCTTAAATTTATCTGAGAAGGAAGCAAATTGCTACCATGAATGGAAAACTGGTATCATTTGGCAAAGACAAAGTCACTGTATAAAAATAGATATATAATTATTTAGGAACCACCTAAGGCCGGGCGCCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCGGAGGCAGGTGGATCATGAGTTCAGGAGATCGAGACCATCCTGGCTAACACGGTGACACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCGGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAATAACCTAAAACCTTTTCTCATGCCCAAATTGAGAGAACACTAGCTTATCTCATGAGTGCTCAGACTCACTCTTAAGAGGGCAGTCCTGTTACCATTCCTATTCTTTTTTTTTTTTCCTTGAGATAGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGATGTGTTCTTGGCTCATTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTCCCTCAGCCTTATGTATAGCTGGGATTACAGGTATGCAACACCATGCCTGGCTATTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGACCAGGCTAGTCTCGAACTCCTGACCTCAAGTAATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTACGCCCAGCCTTCCCATTCTTCTTGAATGGAATTTGTTGATGACAGGAAGCCATAGGAGGTTTCTGGGGAAAGAAGTGTAGTGAGAGGGCAGAGTTTCGGGAGACTCACTGCTTGCTTTCTTTAACGTTTACCTGGGCACCCAGTTGAATCGCCCAGGTCTTTGCTCTCAAAGTACTCAAGGTCTAGTGGAAGAGGCAGGCCAGGTTCCAGACAGCTATCAGTGGTGGTACCAAGCTGGGGACACCGGAGCCACAGGAGGGACTGGCTGACCCTGCCCCAGGTGTCAGGAAGAATCGATAGCTGAATTGGACTGTAGAGCATGAATGCATGTGCCAGGCAAAGAAAGGGAGAAGGGGGCCCAGGGAAAGACAGCGGCAGGCCCGGGGCCTCAGATATCCGGAGAGAGAATCCTGCAGAGTTCCAGATGCCAGGCCAAGGAATTTCTCCCTCCAGAGGGTTATGGGACACAGAAAGTGACATTTCCTGATGTCAGGCCAGGCTCAGGGATGGAGTCAGACCCCGTCACACCCGGTGTCTGGTTGAGGAGGCAGAGGTGAAACATCTCACAAGCTGTGGCAGTCCCTGTTTACTGGAGGTGCACAAGTGCTGCGGGTACACA | TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCGCACCACCACGCCCGGCTAGTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAGATGATCCACCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCTCCCGGCCTTTTACAGCCTGTTTACCCAAAAGTCTTAATATGCGCCTACCATGGTGTGGCCCTGGGGATGTGGAAGGAGCAAAAATTGTTCGCTACCCTCTTAGAGCTTTGGTTGATGCCTGGCAGACAGGCTTTATCAAATAATTACTTCATTAATCACAAATGTGTGAAGTGCCTTACTGTAGACACGCAGAGCGTGCGGGACACGTTATCACAAAGCAACCTCCTGTAGTCTAGAGTGGGGCGTGTGGGTCAGGGAGGTGGAACGTGAGAGCTGAAGGCTGAGGAGATGCTGGGCTACTAAGAAGTGAGGAGAGCCAGACGCCATGGCTCACTCCTGTAATCCCAGCACTTTGGGTGGCCCAGGCGAAAGGATCGCTTGAGCCCAGGAGTTTGAGACCAGCCTGAGCAACACAGTGAGACCCTGTCTCTACAGAAAAATTTAAAAATTAGCCGGGCGTGCTGGTGCGTGCCTGTCATCTCAGCTATCGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGTGATCGAGGCTGCCGTGAGCTATGATGGCGCCACTGCACTGCAGCCTAGGTGACAGAGCAAGACATGGTCTCAAAAAAAAGAAAAGAAAAGAAAAAACAAAGTGAAGGAAAGGGCCACTTTAGTTACAAGGGACTCCTGTACAAAGACCTGGAGGCGGGAAGAGACCGATAATGTAACCAACTCAAGTTTCTGCTACTCAGAGGCAGAGGAAGTGGGGGGTGGTGAAAGTAAAGCAGCTTTACTGATCAAATGCTCGCAGATGAGAAATGGCCAAGCTAATGTCTTTAGAAGACCATTTCAAGCTTTAGGCTGGGGAGAGGGGCTTAAAAAGGGGAACTTTGAATGGGAGGCATACAGGAGTGGTGCTGGGTACAAGGTATGTGTGTCTTGCTCCGAAGGCTGTCTTGAGTCACGGGCCACCTGGAGCATGGGCTGGTGTCAAGTCAACAATGGCCACGTTGTAGATTGATCGCCTTGAGGTGATCTCTGGAGTTTTGCAGCTGGGTTTCCATACCTAGTTTGTTTCAAGATTAGCCCCTGCGGCGAGGCGCGGTGGCTTACGCCTGTAATCCCAACAGTTTGGGAGGCCAAGGTGGGTCGCTCACTTGAGGTCAAGAGTTCAAGACCAGCCTGGCTTACATAGTGAAACCTTGACTCTACAAAAAAAAAAAAAAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAAGTGAGCCAAGACTGCGCCACTGCACTCCAACCTGGGTGTCAGAGCCAGACTCCATCTTTAAAAAATAAATAAATAAAGATTAGCCCCTGGAACTTCTAAGTAAGCACATAGATAAGCCAGCAGTGCAAGACAGTATCTAGTGGGAAAGGAGGGAAACAAAGAATTTCAAAGTATGTTTTCAAGGCTAAAGGCAAGAAAGGAATAAGAAAGTTTGCAAATGCATTTGGAATCTACACCACTTGGTTCCAGTAAGTCTTAGCAAGGTGGCGGTCATAGGGGTGTGCTGCGTCTTGCACAGGTCGGAGCTGGAGACTCGCCAGTGAACAAAACAAACTAAAGCACCTGTTGTCGTGGAGCCTGCATGCTAGTGGGGTTGATAAAGAAGGACCAGGGTCTTCTGGGGGAGAATCATCGCTCAGTAATAAGGAGGGACTTTGTCGGGGCAAGTTTTTAGGGAACGCTGCTGTCCCTCCCCAGGCCTCGGGATGTCTCTGGCAGATGAGCTCTTAGCTGATCTCGAAGAGGCAGCAGAAGAGGAGGAAGGAGGAAGCTATGGGGAGGAAGAGAGCCAGCGATCGAGGATGTGCAGGAGGAGACACAGCTGGATCTTTCCGGGGATTCAGTCAAGACCATCGCCAAGCTATGGGATAGTAAGATGGTAAGAGGACAAGAGGTGTTCCTAGCAGGGGGCTCTAGACAGAATCTCCCAGAAGGGGGTGATACAGGCTTCTTTTTGAAGAGTGCTGGATTCTGACTGTCTTCTCCTTTCCTACAGTTTGCTGAGATTATGATGAAGATTGAGGAGTATATCAGCAAGCAAGCCAAAGCTTCAGAAGGTGCTTCCTCCCACTCTGTGCCCCTCCCCATCTCCTGTCTCTCCTGCCAGGCCCCCTGGCTCCCTGGCTGCTTGTGGCTGGGTATATCTCCTTCTCAGCCTTTTCCAGAGCCTTCTTTTTTTTTTGTTTCACCCCAACCCGTTCCCTTTTCCACTAAATATATATTGCATTGTAAAGCTCATGCTTCTTAAGTCCTTCCTGTGTGCTGAGCTTACTGATCATGATAGGACTCAGCTTGAGGTTTCCCAGACTTCACTGATTCACATGACCGGTTACAGGGTTTTTGCCACATCTATAAGCCGCTTATCCTATTATTTGCTTAACATATTCTTTGAGTCTAGGACTTTTTTTCTTAAATTTATCTGAGAAGGAAGCAAATTGCTACCATGAATGGAAAACTGGTATCATTTGGCAAAGACAAAGTCACTGTATAAAAATAGATATATAATTATTTAGGAACCACCTAAGGCCGGGCGCCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCGGAGGCAGGTGGATCATGAGTTCAGGAGATCGAGACCATCCTGGCTAACACGGTGACACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCGGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAATAACCTAAAACCTTTTCTCATGCCCAAATTGAGAGAACACTAGCTTATCTCATGAGTGCTCAGACTCACTCTTAAGAGGGCAGTCCTGTTACCATTCCTATTCTTTTTTTTTTTTCCTTGAGATAGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGATGTGTTCTTGGCTCATTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTCCCTCAGCCTTATGTATAGCTGGGATTACAGGTATGCAACACCATGCCTGGCTATTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGACCAGGCTAGTCTCGAACTCCTGACCTCAAGTAATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTACGCCCAGCCTTCCCATTCTTCTTGAATGGAATTTGTTGATGACAGGAAGCCATAGGAGGTTTCTGGGGAAAGAAGTGTAGTGAGAGGGCAGAGTTTCGGGAGACTCACTGCTTGCTTTCTTTAACGTTTACCTGGGCACCCAGTTGAATCGCCCAGGTCTTTGCTCTCAAAGTACTCAAGGTCTAGTGGAAGAGGCAGGCCAGGTTCCAGACAGCTATCAGTGGTGGTACCAAGCTGGGGACACCGGAGCCACAGGAGGGACTGGCTGACCCTGCCCCAGGTGTCAGGAAGAATCGATAGCTGAATTGGACTGTAGAGCATGAATGCATGTGCCAGGCAAAGAAAGGGAGAAGGGGGCCCAGGGAAAGACAGCGGCAGGCCCGGGGCCTCAGATATCCGGAGAGAGAATCCTGCAGAGTTCCAGATGCCAGGCCAAGGAATTTCTCCCTCCAGAGGGTTATGGGACACAGAAAGTGACATTTCCTGATGTCAGGCCAGGCTCAGGGATGGAGTCAGACCCCGTCACACCCGGTGTCTGGTTGAGGAGGCAGAGGTGAAACATCTCACAAGCTGTGGCAGTCCCTGTTTACTGGAGGTGCACAAGTGCTGCGGGTACACANNNN | pathogenic | 309,802 |
Regarding the variant found on chromosome 19 at position 54118589 in gene PRPF31 (pre-mRNA processing factor 31): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Retinal_dystrophy'] | GCCTACCATGGTGTGGCCCTGGGGATGTGGAAGGAGCAAAAATTGTTCGCTACCCTCTTAGAGCTTTGGTTGATGCCTGGCAGACAGGCTTTATCAAATAATTACTTCATTAATCACAAATGTGTGAAGTGCCTTACTGTAGACACGCAGAGCGTGCGGGACACGTTATCACAAAGCAACCTCCTGTAGTCTAGAGTGGGGCGTGTGGGTCAGGGAGGTGGAACGTGAGAGCTGAAGGCTGAGGAGATGCTGGGCTACTAAGAAGTGAGGAGAGCCAGACGCCATGGCTCACTCCTGTAATCCCAGCACTTTGGGTGGCCCAGGCGAAAGGATCGCTTGAGCCCAGGAGTTTGAGACCAGCCTGAGCAACACAGTGAGACCCTGTCTCTACAGAAAAATTTAAAAATTAGCCGGGCGTGCTGGTGCGTGCCTGTCATCTCAGCTATCGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGTGATCGAGGCTGCCGTGAGCTATGATGGCGCCACTGCACTGCAGCCTAGGTGACAGAGCAAGACATGGTCTCAAAAAAAAGAAAAGAAAAGAAAAAACAAAGTGAAGGAAAGGGCCACTTTAGTTACAAGGGACTCCTGTACAAAGACCTGGAGGCGGGAAGAGACCGATAATGTAACCAACTCAAGTTTCTGCTACTCAGAGGCAGAGGAAGTGGGGGGTGGTGAAAGTAAAGCAGCTTTACTGATCAAATGCTCGCAGATGAGAAATGGCCAAGCTAATGTCTTTAGAAGACCATTTCAAGCTTTAGGCTGGGGAGAGGGGCTTAAAAAGGGGAACTTTGAATGGGAGGCATACAGGAGTGGTGCTGGGTACAAGGTATGTGTGTCTTGCTCCGAAGGCTGTCTTGAGTCACGGGCCACCTGGAGCATGGGCTGGTGTCAAGTCAACAATGGCCACGTTGTAGATTGATCGCCTTGAGGTGATCTCTGGAGTTTTGCAGCTGGGTTTCCATACCTAGTTTGTTTCAAGATTAGCCCCTGCGGCGAGGCGCGGTGGCTTACGCCTGTAATCCCAACAGTTTGGGAGGCCAAGGTGGGTCGCTCACTTGAGGTCAAGAGTTCAAGACCAGCCTGGCTTACATAGTGAAACCTTGACTCTACAAAAAAAAAAAAAAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAAGTGAGCCAAGACTGCGCCACTGCACTCCAACCTGGGTGTCAGAGCCAGACTCCATCTTTAAAAAATAAATAAATAAAGATTAGCCCCTGGAACTTCTAAGTAAGCACATAGATAAGCCAGCAGTGCAAGACAGTATCTAGTGGGAAAGGAGGGAAACAAAGAATTTCAAAGTATGTTTTCAAGGCTAAAGGCAAGAAAGGAATAAGAAAGTTTGCAAATGCATTTGGAATCTACACCACTTGGTTCCAGTAAGTCTTAGCAAGGTGGCGGTCATAGGGGTGTGCTGCGTCTTGCACAGGTCGGAGCTGGAGACTCGCCAGTGAACAAAACAAACTAAAGCACCTGTTGTCGTGGAGCCTGCATGCTAGTGGGGTTGATAAAGAAGGACCAGGGTCTTCTGGGGGAGAATCATCGCTCAGTAATAAGGAGGGACTTTGTCGGGGCAAGTTTTTAGGGAACGCTGCTGTCCCTCCCCAGGCCTCGGGATGTCTCTGGCAGATGAGCTCTTAGCTGATCTCGAAGAGGCAGCAGAAGAGGAGGAAGGAGGAAGCTATGGGGAGGAAGAAGAGGAGCCAGCGATCGAGGATGTGCAGGAGGAGACACAGCTGGATCTTTCCGGGGATTCAGTCAAGACCATCGCCAAGCTATGGGATAGTAAGATGGTAAGAGGACAAGAGGTGTTCCTAGCAGGGGGCTCTAGACAGAATCTCCCAGAAGGGGGTGATACAGGCTTCTTTTTGAAGAGTGCTGGATTCTGACTGTCTTCTCCTTTCCTACAGTTTGCTGAGATTATGATGAAGATTGAGGAGTATATCAGCAAGCAAGCCAAAGCTTCAGAAGGTGCTTCCTCCCACTCTGTGCCCCTCCCCATCTCCTGTCTCTCCTGCCAGGCCCCCTGGCTCCCTGGCTGCTTGTGGCTGGGTATATCTCCTTCTCAGCCTTTTCCAGAGCCTTCTTTTTTTTTTGTTTCACCCCAACCCGTTCCCTTTTCCACTAAATATATATTGCATTGTAAAGCTCATGCTTCTTAAGTCCTTCCTGTGTGCTGAGCTTACTGATCATGATAGGACTCAGCTTGAGGTTTCCCAGACTTCACTGATTCACATGACCGGTTACAGGGTTTTTGCCACATCTATAAGCCGCTTATCCTATTATTTGCTTAACATATTCTTTGAGTCTAGGACTTTTTTTCTTAAATTTATCTGAGAAGGAAGCAAATTGCTACCATGAATGGAAAACTGGTATCATTTGGCAAAGACAAAGTCACTGTATAAAAATAGATATATAATTATTTAGGAACCACCTAAGGCCGGGCGCCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCGGAGGCAGGTGGATCATGAGTTCAGGAGATCGAGACCATCCTGGCTAACACGGTGACACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCGGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAATAACCTAAAACCTTTTCTCATGCCCAAATTGAGAGAACACTAGCTTATCTCATGAGTGCTCAGACTCACTCTTAAGAGGGCAGTCCTGTTACCATTCCTATTCTTTTTTTTTTTTCCTTGAGATAGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGATGTGTTCTTGGCTCATTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTCCCTCAGCCTTATGTATAGCTGGGATTACAGGTATGCAACACCATGCCTGGCTATTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGACCAGGCTAGTCTCGAACTCCTGACCTCAAGTAATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTACGCCCAGCCTTCCCATTCTTCTTGAATGGAATTTGTTGATGACAGGAAGCCATAGGAGGTTTCTGGGGAAAGAAGTGTAGTGAGAGGGCAGAGTTTCGGGAGACTCACTGCTTGCTTTCTTTAACGTTTACCTGGGCACCCAGTTGAATCGCCCAGGTCTTTGCTCTCAAAGTACTCAAGGTCTAGTGGAAGAGGCAGGCCAGGTTCCAGACAGCTATCAGTGGTGGTACCAAGCTGGGGACACCGGAGCCACAGGAGGGACTGGCTGACCCTGCCCCAGGTGTCAGGAAGAATCGATAGCTGAATTGGACTGTAGAGCATGAATGCATGTGCCAGGCAAAGAAAGGGAGAAGGGGGCCCAGGGAAAGACAGCGGCAGGCCCGGGGCCTCAGATATCCGGAGAGAGAATCCTGCAGAGTTCCAGATGCCAGGCCAAGGAATTTCTCCCTCCAGAGGGTTATGGGACACAGAAAGTGACATTTCCTGATGTCAGGCCAGGCTCAGGGATGGAGTCAGACCCCGTCACACCCGGTGTCTGGTTGAGGAGGCAGAGGTGAAACATCTCACAAGCTGTGGCAGTCCCTGTTTACTGGAGGTGCACAAGTGCTGCGGGTACACAGAGGAGGCGTCTGATCCTTCCAGAAAGGGAGGGAAGGATTCTGAGTCGCTGCCTGAGTCTTAAGGACTTAAAGAGCCATTTGAGCATCAGGGTTAGGAGTGCAGACTCTGACGCCGCCCTGCCTGGTGTCAGATCTGAGCTCTGCCTTCTACTGGCTGTGACATCAGGCAGTTAGTATTTGCATGACTTTTAAACACAACATCTTTTTGTTTGTTTGTTTTTTGAGACAGG | GCCTACCATGGTGTGGCCCTGGGGATGTGGAAGGAGCAAAAATTGTTCGCTACCCTCTTAGAGCTTTGGTTGATGCCTGGCAGACAGGCTTTATCAAATAATTACTTCATTAATCACAAATGTGTGAAGTGCCTTACTGTAGACACGCAGAGCGTGCGGGACACGTTATCACAAAGCAACCTCCTGTAGTCTAGAGTGGGGCGTGTGGGTCAGGGAGGTGGAACGTGAGAGCTGAAGGCTGAGGAGATGCTGGGCTACTAAGAAGTGAGGAGAGCCAGACGCCATGGCTCACTCCTGTAATCCCAGCACTTTGGGTGGCCCAGGCGAAAGGATCGCTTGAGCCCAGGAGTTTGAGACCAGCCTGAGCAACACAGTGAGACCCTGTCTCTACAGAAAAATTTAAAAATTAGCCGGGCGTGCTGGTGCGTGCCTGTCATCTCAGCTATCGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGTGATCGAGGCTGCCGTGAGCTATGATGGCGCCACTGCACTGCAGCCTAGGTGACAGAGCAAGACATGGTCTCAAAAAAAAGAAAAGAAAAGAAAAAACAAAGTGAAGGAAAGGGCCACTTTAGTTACAAGGGACTCCTGTACAAAGACCTGGAGGCGGGAAGAGACCGATAATGTAACCAACTCAAGTTTCTGCTACTCAGAGGCAGAGGAAGTGGGGGGTGGTGAAAGTAAAGCAGCTTTACTGATCAAATGCTCGCAGATGAGAAATGGCCAAGCTAATGTCTTTAGAAGACCATTTCAAGCTTTAGGCTGGGGAGAGGGGCTTAAAAAGGGGAACTTTGAATGGGAGGCATACAGGAGTGGTGCTGGGTACAAGGTATGTGTGTCTTGCTCCGAAGGCTGTCTTGAGTCACGGGCCACCTGGAGCATGGGCTGGTGTCAAGTCAACAATGGCCACGTTGTAGATTGATCGCCTTGAGGTGATCTCTGGAGTTTTGCAGCTGGGTTTCCATACCTAGTTTGTTTCAAGATTAGCCCCTGCGGCGAGGCGCGGTGGCTTACGCCTGTAATCCCAACAGTTTGGGAGGCCAAGGTGGGTCGCTCACTTGAGGTCAAGAGTTCAAGACCAGCCTGGCTTACATAGTGAAACCTTGACTCTACAAAAAAAAAAAAAAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAAGTGAGCCAAGACTGCGCCACTGCACTCCAACCTGGGTGTCAGAGCCAGACTCCATCTTTAAAAAATAAATAAATAAAGATTAGCCCCTGGAACTTCTAAGTAAGCACATAGATAAGCCAGCAGTGCAAGACAGTATCTAGTGGGAAAGGAGGGAAACAAAGAATTTCAAAGTATGTTTTCAAGGCTAAAGGCAAGAAAGGAATAAGAAAGTTTGCAAATGCATTTGGAATCTACACCACTTGGTTCCAGTAAGTCTTAGCAAGGTGGCGGTCATAGGGGTGTGCTGCGTCTTGCACAGGTCGGAGCTGGAGACTCGCCAGTGAACAAAACAAACTAAAGCACCTGTTGTCGTGGAGCCTGCATGCTAGTGGGGTTGATAAAGAAGGACCAGGGTCTTCTGGGGGAGAATCATCGCTCAGTAATAAGGAGGGACTTTGTCGGGGCAAGTTTTTAGGGAACGCTGCTGTCCCTCCCCAGGCCTCGGGATGTCTCTGGCAGATGAGCTCTTAGCTGATCTCGAAGAGGCAGCAGAAGAGGAGGAAGGAGGAAGCTATGGGGAGGAAGAAGAGGAGCCAGCGATCGAGGATGTGCAGGAGGAGACACAGCTGGATCTTTCCGGGGATTCAGTCAAGACCATCGCCAAGCTATGGGATAGTAAGATGGTAAGAGGACAAGAGGTGTTCCTAGCAGGGGGCTCTAGACAGAATCTCCCAGAAGGGGGTGATACAGGCTTCTTTTTGAAGAGTGCTGGATTCTGACTGTCTTCTCCTTTCCTACAGTTTGCTGAGATTATGATAAGATTGAGGAGTATATCAGCAAGCAAGCCAAAGCTTCAGAAGGTGCTTCCTCCCACTCTGTGCCCCTCCCCATCTCCTGTCTCTCCTGCCAGGCCCCCTGGCTCCCTGGCTGCTTGTGGCTGGGTATATCTCCTTCTCAGCCTTTTCCAGAGCCTTCTTTTTTTTTTGTTTCACCCCAACCCGTTCCCTTTTCCACTAAATATATATTGCATTGTAAAGCTCATGCTTCTTAAGTCCTTCCTGTGTGCTGAGCTTACTGATCATGATAGGACTCAGCTTGAGGTTTCCCAGACTTCACTGATTCACATGACCGGTTACAGGGTTTTTGCCACATCTATAAGCCGCTTATCCTATTATTTGCTTAACATATTCTTTGAGTCTAGGACTTTTTTTCTTAAATTTATCTGAGAAGGAAGCAAATTGCTACCATGAATGGAAAACTGGTATCATTTGGCAAAGACAAAGTCACTGTATAAAAATAGATATATAATTATTTAGGAACCACCTAAGGCCGGGCGCCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCGGAGGCAGGTGGATCATGAGTTCAGGAGATCGAGACCATCCTGGCTAACACGGTGACACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCGGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAATAACCTAAAACCTTTTCTCATGCCCAAATTGAGAGAACACTAGCTTATCTCATGAGTGCTCAGACTCACTCTTAAGAGGGCAGTCCTGTTACCATTCCTATTCTTTTTTTTTTTTCCTTGAGATAGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGATGTGTTCTTGGCTCATTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTCCCTCAGCCTTATGTATAGCTGGGATTACAGGTATGCAACACCATGCCTGGCTATTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGACCAGGCTAGTCTCGAACTCCTGACCTCAAGTAATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTACGCCCAGCCTTCCCATTCTTCTTGAATGGAATTTGTTGATGACAGGAAGCCATAGGAGGTTTCTGGGGAAAGAAGTGTAGTGAGAGGGCAGAGTTTCGGGAGACTCACTGCTTGCTTTCTTTAACGTTTACCTGGGCACCCAGTTGAATCGCCCAGGTCTTTGCTCTCAAAGTACTCAAGGTCTAGTGGAAGAGGCAGGCCAGGTTCCAGACAGCTATCAGTGGTGGTACCAAGCTGGGGACACCGGAGCCACAGGAGGGACTGGCTGACCCTGCCCCAGGTGTCAGGAAGAATCGATAGCTGAATTGGACTGTAGAGCATGAATGCATGTGCCAGGCAAAGAAAGGGAGAAGGGGGCCCAGGGAAAGACAGCGGCAGGCCCGGGGCCTCAGATATCCGGAGAGAGAATCCTGCAGAGTTCCAGATGCCAGGCCAAGGAATTTCTCCCTCCAGAGGGTTATGGGACACAGAAAGTGACATTTCCTGATGTCAGGCCAGGCTCAGGGATGGAGTCAGACCCCGTCACACCCGGTGTCTGGTTGAGGAGGCAGAGGTGAAACATCTCACAAGCTGTGGCAGTCCCTGTTTACTGGAGGTGCACAAGTGCTGCGGGTACACAGAGGAGGCGTCTGATCCTTCCAGAAAGGGAGGGAAGGATTCTGAGTCGCTGCCTGAGTCTTAAGGACTTAAAGAGCCATTTGAGCATCAGGGTTAGGAGTGCAGACTCTGACGCCGCCCTGCCTGGTGTCAGATCTGAGCTCTGCCTTCTACTGGCTGTGACATCAGGCAGTTAGTATTTGCATGACTTTTAAACACAACATCTTTTTGTTTGTTTGTTTTTTGAGACAGGN | pathogenic | 309,806 |
Is the genetic variant on chromosome 19, position 54121899, gene PRPF31, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa'] | GGGGAAAGAAGTGTAGTGAGAGGGCAGAGTTTCGGGAGACTCACTGCTTGCTTTCTTTAACGTTTACCTGGGCACCCAGTTGAATCGCCCAGGTCTTTGCTCTCAAAGTACTCAAGGTCTAGTGGAAGAGGCAGGCCAGGTTCCAGACAGCTATCAGTGGTGGTACCAAGCTGGGGACACCGGAGCCACAGGAGGGACTGGCTGACCCTGCCCCAGGTGTCAGGAAGAATCGATAGCTGAATTGGACTGTAGAGCATGAATGCATGTGCCAGGCAAAGAAAGGGAGAAGGGGGCCCAGGGAAAGACAGCGGCAGGCCCGGGGCCTCAGATATCCGGAGAGAGAATCCTGCAGAGTTCCAGATGCCAGGCCAAGGAATTTCTCCCTCCAGAGGGTTATGGGACACAGAAAGTGACATTTCCTGATGTCAGGCCAGGCTCAGGGATGGAGTCAGACCCCGTCACACCCGGTGTCTGGTTGAGGAGGCAGAGGTGAAACATCTCACAAGCTGTGGCAGTCCCTGTTTACTGGAGGTGCACAAGTGCTGCGGGTACACAGAGGAGGCGTCTGATCCTTCCAGAAAGGGAGGGAAGGATTCTGAGTCGCTGCCTGAGTCTTAAGGACTTAAAGAGCCATTTGAGCATCAGGGTTAGGAGTGCAGACTCTGACGCCGCCCTGCCTGGTGTCAGATCTGAGCTCTGCCTTCTACTGGCTGTGACATCAGGCAGTTAGTATTTGCATGACTTTTAAACACAACATCTTTTTGTTTGTTTGTTTTTTGAGACAGGGTCTCACTCTGTCACCCAGGCCAGAATGCAGTGGCACGATCCCAGCTCACTGCAGCCTTGACCTTGTGGGCTCAGGCGTTCCTGCCTCAGCCTCCCAGGCAGCTGGGACCACAGGTGTACACCACCATGCCTGGCTAATTTTTTTTCTTTAATTATGTGTAGAGATGGGGTCTCCCTATGTCGCCCAGGTTGCTCTCCAACTCCTGGGCTCAAGCAGTTCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACTGTGCCTGACCTCTTATTACTAAAGCACAAAGAAGCGTTTTCCAGAAACAGACGTGGGGTAAGGGATGCTCTGGGGAGAGGGAGCAGCACATGCAGAGGCCAGGAGGGGTCTGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTTGGGTGGTCAAGGCAGATGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGCCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAACAAACAAAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCATGCCACTATACTCTAGCCTGGGCAACCAGAGCGAAATTATGTCTCAAAAAAAAAAAAAAAAGGCTAGGAGGAGTGGGTGTCTGGGGCACTGTGATCACTCCTTTATGGCTGGAGTGGAATAAAATGAGGTGTGGTGAGAGGATGGGGCGGGAAGGGCGGGAGGCCAGACTGCAGAGCTGCTGAGTCAGCAAACAGGAACGGGGGAACTCCCTGTGTGCCAGGTGCTGTCCTGGGTACTCGGCTGTGGGTACAGCCAACGCAGGCACAGCACTGGTCCCTGCAGAGCTTCCGGAGTTGGGGAGGCCCTGAATGTCAGTCTGAGGACTCGGTCATTAGCCTTGGGGCTGTGGGGAGCCGTAGGAGGTTTCACACGGTCAGTTCTGGGGTAGATGGGGTCAAGTCTAGACTGGTGTGGAGGGAGAGGGATTGAAGGCAGGAACACAAGTTCAGGGATGTCTGCAGACATCAGCCTGTCCCTGGTTTACTCTTCAGCCCCTCCTTCCTGACCCCTCCCAACTTCATCCTCCGCCTCCTCCAGCTGCGGGACCCGAGAGGGGGTAGGGATTTAGATACTCACACCCATGCCTCCGTGTCCTCACAGTGATGGGACCAGTGGAGGCCGCGCCTGAATACCGCGTCATCGTGGATGCCAACAACCTGACCGTGGAGATCGAAAACGAGCTGAGTGAGTGCTGGGGGGCAGGCGGAGACAGCCCCGTGTGACGTCCCTCACGCCCCCTCTCCCTTCCCCACTGGCCTTTCCCAGGGTCCTGCCCCTAAGCCCAAGCTCAGATCGAGGTTGACCTGCTGTCACAGAGTGGCTGAAATAAGAAGGAAGTGCGTTCTCTCGCGTATGAGTCTGAGGAGCACTCGGGGATGGTGTGGCCGCTTGGCTGCCTGTAGGGCCCCGGCTCTTTCCATCCTGTTGGTCGGCCACCTGCCTCACGGTGCGAGGTGACTGCCCCACCTCCAGCCATCACCTCCGCATTCCCACCAGCAAGGCGCTTCTTTTCTTTAAGAACATGTCACTGCAGCTCACGTTTTACAGACCAGAACTAATTCCCCTGGTCACACCTAGCGGTAAGGACGGCTGAGAAAGGCTGTATGCTGGTGCCCGTGTGCCAGGCCACAAGCCAGGGCTTCAGTTACTAAAGGAAGAAGGGGACATGGGTGTTAGGGCCAACCAGCAGAGTCTACCTTCCATCTCACCCGACAACCTCCTGTCCCGTTTACCCTAGACATCATCCATAAGTTCATCCGGGATAAGTACTCAAAGAGATTCCCTGAACTGGAGTCCTTGGTCCCCAATGCACTGGATTACATCCGCACGGTCAAGGTGAGCGCAGAGAAGGTGGGGTGCTTCTGCTGGCGTGAAGGGGCAGGCGGGGCTCACTCTCGGACCCCCTCCCAGAGGCCTGAGGGTCTGGAGACGATGGAGAGGAGTGGACGAGGGCTCAGTGGTCTGCTCTGCCCAGCGTGGGAGGGACGGAGCCTGGACAGGACTTTCTCAGGGCTCCCCTCCAACCCCAGTCTCCCGAGAGGGCTTCCCCGCTGGCCTGACCCACGCTGCTCCCGCTGTGGTTGGAGCCGGTGGCATTGGAGTTGACATCCGAAGGTTGACACAGGGCAGGCACACGGAGATTTGGGGGAGAGAGACGTCTAAGTGCAGAGAGCTGGAGAGGGAACAAGTGGGGAGGAAGTGAGGCGGGGAAGGAGGGGACGGGGAAGAGGTCGGATCACGTCCAGCCTTTGGGTCTTAGGAGAAAGCCAAGGAAGGGTTTCGGAAAAGAGGGGCAGGTGTGCGTGAGGGCGGGGAGAGGAGGAGGTCCCCACGCATGTCCAGGAAAGGATTAGGATGGCGGTGGGGAAGCCCCTGCAGGGAAGCGAGGCCGCGGATTTGCACTCCGACTTGACGCAGGCCAGAGGCTTGTGAGGCCACAGTCTTTCCAGACGCCACTCTGCCCGGGCTCCGTTTCCAGGTCAGCGAAAGCAGGGCAGATGGTGTGGATGCTTGACGTGGTGGAGGCAGGAATGGTGTGGATGCTTCAGGCGGTGGAGGCAGGAGAGGCCCCCAGTGCAGAGACCCTGACTGTCCCAGTGTCCCTAAGAAGAGACCTGAGGAGGTGCTGAGCAAGAGAGGTTCTCGAGCCTTCCTGAGTTCCCGAGCCTCCCCTATCTTCTCTGCTCGCCCCCAGGAGCTGGGCAACAGCCTGGACAAGTGCAAGAACAATGAGAACCTGCAGCAGATCCTCACCAATGCCACCATCATGGTCGTCAGCGTCACCGCCTCCACCACCCAGGGGTATGTCCGCTTCGAGGGAGGCGCCGGGCCCTAATGGGATTGGGGATTAGGCTGGAGCTACACACGCAGGTGTACACACGCACACACACATACACACATGCACACACACACACAGAACCGAGAGGGCTGGGGCTGGGCACACCAGGCAGGCGGGAGACCCAGGAGGCTGGGCCCACCCGCCCCTGCAGGCAGCAGCTGTCGGAGGAGGAGCTGGAGCGGCTGGAGGAGGCCTGCGACATGGCGCTGGAGCTGAACGCCTCCAAGCACCGCATCTACGAGTATGTGGAGTCCCGGATGTCCTTCATCGCACCCAACCTGTCCATCATTATCGGGGCATCCACGGCCGCCAAGATCATGGGTGAGTCCCCGGGCTGGGTCCCATGGAG | GGGGAAAGAAGTGTAGTGAGAGGGCAGAGTTTCGGGAGACTCACTGCTTGCTTTCTTTAACGTTTACCTGGGCACCCAGTTGAATCGCCCAGGTCTTTGCTCTCAAAGTACTCAAGGTCTAGTGGAAGAGGCAGGCCAGGTTCCAGACAGCTATCAGTGGTGGTACCAAGCTGGGGACACCGGAGCCACAGGAGGGACTGGCTGACCCTGCCCCAGGTGTCAGGAAGAATCGATAGCTGAATTGGACTGTAGAGCATGAATGCATGTGCCAGGCAAAGAAAGGGAGAAGGGGGCCCAGGGAAAGACAGCGGCAGGCCCGGGGCCTCAGATATCCGGAGAGAGAATCCTGCAGAGTTCCAGATGCCAGGCCAAGGAATTTCTCCCTCCAGAGGGTTATGGGACACAGAAAGTGACATTTCCTGATGTCAGGCCAGGCTCAGGGATGGAGTCAGACCCCGTCACACCCGGTGTCTGGTTGAGGAGGCAGAGGTGAAACATCTCACAAGCTGTGGCAGTCCCTGTTTACTGGAGGTGCACAAGTGCTGCGGGTACACAGAGGAGGCGTCTGATCCTTCCAGAAAGGGAGGGAAGGATTCTGAGTCGCTGCCTGAGTCTTAAGGACTTAAAGAGCCATTTGAGCATCAGGGTTAGGAGTGCAGACTCTGACGCCGCCCTGCCTGGTGTCAGATCTGAGCTCTGCCTTCTACTGGCTGTGACATCAGGCAGTTAGTATTTGCATGACTTTTAAACACAACATCTTTTTGTTTGTTTGTTTTTTGAGACAGGGTCTCACTCTGTCACCCAGGCCAGAATGCAGTGGCACGATCCCAGCTCACTGCAGCCTTGACCTTGTGGGCTCAGGCGTTCCTGCCTCAGCCTCCCAGGCAGCTGGGACCACAGGTGTACACCACCATGCCTGGCTAATTTTTTTTCTTTAATTATGTGTAGAGATGGGGTCTCCCTATGTCGCCCAGGTTGCTCTCCAACTCCTGGGCTCAAGCAGTTCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACTGTGCCTGACCTCTTATTACTAAAGCACAAAGAAGCGTTTTCCAGAAACAGACGTGGGGTAAGGGATGCTCTGGGGAGAGGGAGCAGCACATGCAGAGGCCAGGAGGGGTCTGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTTGGGTGGTCAAGGCAGATGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGCCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAACAAACAAAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCATGCCACTATACTCTAGCCTGGGCAACCAGAGCGAAATTATGTCTCAAAAAAAAAAAAAAAAGGCTAGGAGGAGTGGGTGTCTGGGGCACTGTGATCACTCCTTTATGGCTGGAGTGGAATAAAATGAGGTGTGGTGAGAGGATGGGGCGGGAAGGGCGGGAGGCCAGACTGCAGAGCTGCTGAGTCAGCAAACAGGAACGGGGGAACTCCCTGTGTGCCAGGTGCTGTCCTGGGTACTCGGCTGTGGGTACAGCCAACGCAGGCACAGCACTGGTCCCTGCAGAGCTTCCGGAGTTGGGGAGGCCCTGAATGTCAGTCTGAGGACTCGGTCATTAGCCTTGGGGCTGTGGGGAGCCGTAGGAGGTTTCACACGGTCAGTTCTGGGGTAGATGGGGTCAAGTCTAGACTGGTGTGGAGGGAGAGGGATTGAAGGCAGGAACACAAGTTCAGGGATGTCTGCAGACATCAGCCTGTCCCTGGTTTACTCTTCAGCCCCTCCTTCCTGACCCCTCCCAACTTCATCCTCCGCCTCCTCCAGCTGCGGGACCCGAGAGGGGGTAGGGATTTAGATACTCACACCCATGCCTCCGTGTCCTCACAGTGATGGGACCAGTGGAGGCCGCGCCTGAATACCGCGTCATCCGTGGATGCCAACAACCTGACCGTGGAGATCGAAAACGAGCTGAGTGAGTGCTGGGGGGCAGGCGGAGACAGCCCCGTGTGACGTCCCTCACGCCCCCTCTCCCTTCCCCACTGGCCTTTCCCAGGGTCCTGCCCCTAAGCCCAAGCTCAGATCGAGGTTGACCTGCTGTCACAGAGTGGCTGAAATAAGAAGGAAGTGCGTTCTCTCGCGTATGAGTCTGAGGAGCACTCGGGGATGGTGTGGCCGCTTGGCTGCCTGTAGGGCCCCGGCTCTTTCCATCCTGTTGGTCGGCCACCTGCCTCACGGTGCGAGGTGACTGCCCCACCTCCAGCCATCACCTCCGCATTCCCACCAGCAAGGCGCTTCTTTTCTTTAAGAACATGTCACTGCAGCTCACGTTTTACAGACCAGAACTAATTCCCCTGGTCACACCTAGCGGTAAGGACGGCTGAGAAAGGCTGTATGCTGGTGCCCGTGTGCCAGGCCACAAGCCAGGGCTTCAGTTACTAAAGGAAGAAGGGGACATGGGTGTTAGGGCCAACCAGCAGAGTCTACCTTCCATCTCACCCGACAACCTCCTGTCCCGTTTACCCTAGACATCATCCATAAGTTCATCCGGGATAAGTACTCAAAGAGATTCCCTGAACTGGAGTCCTTGGTCCCCAATGCACTGGATTACATCCGCACGGTCAAGGTGAGCGCAGAGAAGGTGGGGTGCTTCTGCTGGCGTGAAGGGGCAGGCGGGGCTCACTCTCGGACCCCCTCCCAGAGGCCTGAGGGTCTGGAGACGATGGAGAGGAGTGGACGAGGGCTCAGTGGTCTGCTCTGCCCAGCGTGGGAGGGACGGAGCCTGGACAGGACTTTCTCAGGGCTCCCCTCCAACCCCAGTCTCCCGAGAGGGCTTCCCCGCTGGCCTGACCCACGCTGCTCCCGCTGTGGTTGGAGCCGGTGGCATTGGAGTTGACATCCGAAGGTTGACACAGGGCAGGCACACGGAGATTTGGGGGAGAGAGACGTCTAAGTGCAGAGAGCTGGAGAGGGAACAAGTGGGGAGGAAGTGAGGCGGGGAAGGAGGGGACGGGGAAGAGGTCGGATCACGTCCAGCCTTTGGGTCTTAGGAGAAAGCCAAGGAAGGGTTTCGGAAAAGAGGGGCAGGTGTGCGTGAGGGCGGGGAGAGGAGGAGGTCCCCACGCATGTCCAGGAAAGGATTAGGATGGCGGTGGGGAAGCCCCTGCAGGGAAGCGAGGCCGCGGATTTGCACTCCGACTTGACGCAGGCCAGAGGCTTGTGAGGCCACAGTCTTTCCAGACGCCACTCTGCCCGGGCTCCGTTTCCAGGTCAGCGAAAGCAGGGCAGATGGTGTGGATGCTTGACGTGGTGGAGGCAGGAATGGTGTGGATGCTTCAGGCGGTGGAGGCAGGAGAGGCCCCCAGTGCAGAGACCCTGACTGTCCCAGTGTCCCTAAGAAGAGACCTGAGGAGGTGCTGAGCAAGAGAGGTTCTCGAGCCTTCCTGAGTTCCCGAGCCTCCCCTATCTTCTCTGCTCGCCCCCAGGAGCTGGGCAACAGCCTGGACAAGTGCAAGAACAATGAGAACCTGCAGCAGATCCTCACCAATGCCACCATCATGGTCGTCAGCGTCACCGCCTCCACCACCCAGGGGTATGTCCGCTTCGAGGGAGGCGCCGGGCCCTAATGGGATTGGGGATTAGGCTGGAGCTACACACGCAGGTGTACACACGCACACACACATACACACATGCACACACACACACAGAACCGAGAGGGCTGGGGCTGGGCACACCAGGCAGGCGGGAGACCCAGGAGGCTGGGCCCACCCGCCCCTGCAGGCAGCAGCTGTCGGAGGAGGAGCTGGAGCGGCTGGAGGAGGCCTGCGACATGGCGCTGGAGCTGAACGCCTCCAAGCACCGCATCTACGAGTATGTGGAGTCCCGGATGTCCTTCATCGCACCCAACCTGTCCATCATTATCGGGGCATCCACGGCCGCCAAGATCATGGGTGAGTCCCCGGGCTGGGTCCCATGGA | pathogenic | 309,815 |
Chromosome 19, position 54121940, gene PRPF31: Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic | CACTGCTTGCTTTCTTTAACGTTTACCTGGGCACCCAGTTGAATCGCCCAGGTCTTTGCTCTCAAAGTACTCAAGGTCTAGTGGAAGAGGCAGGCCAGGTTCCAGACAGCTATCAGTGGTGGTACCAAGCTGGGGACACCGGAGCCACAGGAGGGACTGGCTGACCCTGCCCCAGGTGTCAGGAAGAATCGATAGCTGAATTGGACTGTAGAGCATGAATGCATGTGCCAGGCAAAGAAAGGGAGAAGGGGGCCCAGGGAAAGACAGCGGCAGGCCCGGGGCCTCAGATATCCGGAGAGAGAATCCTGCAGAGTTCCAGATGCCAGGCCAAGGAATTTCTCCCTCCAGAGGGTTATGGGACACAGAAAGTGACATTTCCTGATGTCAGGCCAGGCTCAGGGATGGAGTCAGACCCCGTCACACCCGGTGTCTGGTTGAGGAGGCAGAGGTGAAACATCTCACAAGCTGTGGCAGTCCCTGTTTACTGGAGGTGCACAAGTGCTGCGGGTACACAGAGGAGGCGTCTGATCCTTCCAGAAAGGGAGGGAAGGATTCTGAGTCGCTGCCTGAGTCTTAAGGACTTAAAGAGCCATTTGAGCATCAGGGTTAGGAGTGCAGACTCTGACGCCGCCCTGCCTGGTGTCAGATCTGAGCTCTGCCTTCTACTGGCTGTGACATCAGGCAGTTAGTATTTGCATGACTTTTAAACACAACATCTTTTTGTTTGTTTGTTTTTTGAGACAGGGTCTCACTCTGTCACCCAGGCCAGAATGCAGTGGCACGATCCCAGCTCACTGCAGCCTTGACCTTGTGGGCTCAGGCGTTCCTGCCTCAGCCTCCCAGGCAGCTGGGACCACAGGTGTACACCACCATGCCTGGCTAATTTTTTTTCTTTAATTATGTGTAGAGATGGGGTCTCCCTATGTCGCCCAGGTTGCTCTCCAACTCCTGGGCTCAAGCAGTTCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACTGTGCCTGACCTCTTATTACTAAAGCACAAAGAAGCGTTTTCCAGAAACAGACGTGGGGTAAGGGATGCTCTGGGGAGAGGGAGCAGCACATGCAGAGGCCAGGAGGGGTCTGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTTGGGTGGTCAAGGCAGATGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGCCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAACAAACAAAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCATGCCACTATACTCTAGCCTGGGCAACCAGAGCGAAATTATGTCTCAAAAAAAAAAAAAAAAGGCTAGGAGGAGTGGGTGTCTGGGGCACTGTGATCACTCCTTTATGGCTGGAGTGGAATAAAATGAGGTGTGGTGAGAGGATGGGGCGGGAAGGGCGGGAGGCCAGACTGCAGAGCTGCTGAGTCAGCAAACAGGAACGGGGGAACTCCCTGTGTGCCAGGTGCTGTCCTGGGTACTCGGCTGTGGGTACAGCCAACGCAGGCACAGCACTGGTCCCTGCAGAGCTTCCGGAGTTGGGGAGGCCCTGAATGTCAGTCTGAGGACTCGGTCATTAGCCTTGGGGCTGTGGGGAGCCGTAGGAGGTTTCACACGGTCAGTTCTGGGGTAGATGGGGTCAAGTCTAGACTGGTGTGGAGGGAGAGGGATTGAAGGCAGGAACACAAGTTCAGGGATGTCTGCAGACATCAGCCTGTCCCTGGTTTACTCTTCAGCCCCTCCTTCCTGACCCCTCCCAACTTCATCCTCCGCCTCCTCCAGCTGCGGGACCCGAGAGGGGGTAGGGATTTAGATACTCACACCCATGCCTCCGTGTCCTCACAGTGATGGGACCAGTGGAGGCCGCGCCTGAATACCGCGTCATCGTGGATGCCAACAACCTGACCGTGGAGATCGAAAACGAGCTGAGTGAGTGCTGGGGGGCAGGCGGAGACAGCCCCGTGTGACGTCCCTCACGCCCCCTCTCCCTTCCCCACTGGCCTTTCCCAGGGTCCTGCCCCTAAGCCCAAGCTCAGATCGAGGTTGACCTGCTGTCACAGAGTGGCTGAAATAAGAAGGAAGTGCGTTCTCTCGCGTATGAGTCTGAGGAGCACTCGGGGATGGTGTGGCCGCTTGGCTGCCTGTAGGGCCCCGGCTCTTTCCATCCTGTTGGTCGGCCACCTGCCTCACGGTGCGAGGTGACTGCCCCACCTCCAGCCATCACCTCCGCATTCCCACCAGCAAGGCGCTTCTTTTCTTTAAGAACATGTCACTGCAGCTCACGTTTTACAGACCAGAACTAATTCCCCTGGTCACACCTAGCGGTAAGGACGGCTGAGAAAGGCTGTATGCTGGTGCCCGTGTGCCAGGCCACAAGCCAGGGCTTCAGTTACTAAAGGAAGAAGGGGACATGGGTGTTAGGGCCAACCAGCAGAGTCTACCTTCCATCTCACCCGACAACCTCCTGTCCCGTTTACCCTAGACATCATCCATAAGTTCATCCGGGATAAGTACTCAAAGAGATTCCCTGAACTGGAGTCCTTGGTCCCCAATGCACTGGATTACATCCGCACGGTCAAGGTGAGCGCAGAGAAGGTGGGGTGCTTCTGCTGGCGTGAAGGGGCAGGCGGGGCTCACTCTCGGACCCCCTCCCAGAGGCCTGAGGGTCTGGAGACGATGGAGAGGAGTGGACGAGGGCTCAGTGGTCTGCTCTGCCCAGCGTGGGAGGGACGGAGCCTGGACAGGACTTTCTCAGGGCTCCCCTCCAACCCCAGTCTCCCGAGAGGGCTTCCCCGCTGGCCTGACCCACGCTGCTCCCGCTGTGGTTGGAGCCGGTGGCATTGGAGTTGACATCCGAAGGTTGACACAGGGCAGGCACACGGAGATTTGGGGGAGAGAGACGTCTAAGTGCAGAGAGCTGGAGAGGGAACAAGTGGGGAGGAAGTGAGGCGGGGAAGGAGGGGACGGGGAAGAGGTCGGATCACGTCCAGCCTTTGGGTCTTAGGAGAAAGCCAAGGAAGGGTTTCGGAAAAGAGGGGCAGGTGTGCGTGAGGGCGGGGAGAGGAGGAGGTCCCCACGCATGTCCAGGAAAGGATTAGGATGGCGGTGGGGAAGCCCCTGCAGGGAAGCGAGGCCGCGGATTTGCACTCCGACTTGACGCAGGCCAGAGGCTTGTGAGGCCACAGTCTTTCCAGACGCCACTCTGCCCGGGCTCCGTTTCCAGGTCAGCGAAAGCAGGGCAGATGGTGTGGATGCTTGACGTGGTGGAGGCAGGAATGGTGTGGATGCTTCAGGCGGTGGAGGCAGGAGAGGCCCCCAGTGCAGAGACCCTGACTGTCCCAGTGTCCCTAAGAAGAGACCTGAGGAGGTGCTGAGCAAGAGAGGTTCTCGAGCCTTCCTGAGTTCCCGAGCCTCCCCTATCTTCTCTGCTCGCCCCCAGGAGCTGGGCAACAGCCTGGACAAGTGCAAGAACAATGAGAACCTGCAGCAGATCCTCACCAATGCCACCATCATGGTCGTCAGCGTCACCGCCTCCACCACCCAGGGGTATGTCCGCTTCGAGGGAGGCGCCGGGCCCTAATGGGATTGGGGATTAGGCTGGAGCTACACACGCAGGTGTACACACGCACACACACATACACACATGCACACACACACACAGAACCGAGAGGGCTGGGGCTGGGCACACCAGGCAGGCGGGAGACCCAGGAGGCTGGGCCCACCCGCCCCTGCAGGCAGCAGCTGTCGGAGGAGGAGCTGGAGCGGCTGGAGGAGGCCTGCGACATGGCGCTGGAGCTGAACGCCTCCAAGCACCGCATCTACGAGTATGTGGAGTCCCGGATGTCCTTCATCGCACCCAACCTGTCCATCATTATCGGGGCATCCACGGCCGCCAAGATCATGGGTGAGTCCCCGGGCTGGGTCCCATGGAGCGGGGGTCTGCTGACACTGTGACCTTGGGAAAGCTACATCC | CACTGCTTGCTTTCTTTAACGTTTACCTGGGCACCCAGTTGAATCGCCCAGGTCTTTGCTCTCAAAGTACTCAAGGTCTAGTGGAAGAGGCAGGCCAGGTTCCAGACAGCTATCAGTGGTGGTACCAAGCTGGGGACACCGGAGCCACAGGAGGGACTGGCTGACCCTGCCCCAGGTGTCAGGAAGAATCGATAGCTGAATTGGACTGTAGAGCATGAATGCATGTGCCAGGCAAAGAAAGGGAGAAGGGGGCCCAGGGAAAGACAGCGGCAGGCCCGGGGCCTCAGATATCCGGAGAGAGAATCCTGCAGAGTTCCAGATGCCAGGCCAAGGAATTTCTCCCTCCAGAGGGTTATGGGACACAGAAAGTGACATTTCCTGATGTCAGGCCAGGCTCAGGGATGGAGTCAGACCCCGTCACACCCGGTGTCTGGTTGAGGAGGCAGAGGTGAAACATCTCACAAGCTGTGGCAGTCCCTGTTTACTGGAGGTGCACAAGTGCTGCGGGTACACAGAGGAGGCGTCTGATCCTTCCAGAAAGGGAGGGAAGGATTCTGAGTCGCTGCCTGAGTCTTAAGGACTTAAAGAGCCATTTGAGCATCAGGGTTAGGAGTGCAGACTCTGACGCCGCCCTGCCTGGTGTCAGATCTGAGCTCTGCCTTCTACTGGCTGTGACATCAGGCAGTTAGTATTTGCATGACTTTTAAACACAACATCTTTTTGTTTGTTTGTTTTTTGAGACAGGGTCTCACTCTGTCACCCAGGCCAGAATGCAGTGGCACGATCCCAGCTCACTGCAGCCTTGACCTTGTGGGCTCAGGCGTTCCTGCCTCAGCCTCCCAGGCAGCTGGGACCACAGGTGTACACCACCATGCCTGGCTAATTTTTTTTCTTTAATTATGTGTAGAGATGGGGTCTCCCTATGTCGCCCAGGTTGCTCTCCAACTCCTGGGCTCAAGCAGTTCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACTGTGCCTGACCTCTTATTACTAAAGCACAAAGAAGCGTTTTCCAGAAACAGACGTGGGGTAAGGGATGCTCTGGGGAGAGGGAGCAGCACATGCAGAGGCCAGGAGGGGTCTGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTTGGGTGGTCAAGGCAGATGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGCCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAACAAACAAAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCATGCCACTATACTCTAGCCTGGGCAACCAGAGCGAAATTATGTCTCAAAAAAAAAAAAAAAAGGCTAGGAGGAGTGGGTGTCTGGGGCACTGTGATCACTCCTTTATGGCTGGAGTGGAATAAAATGAGGTGTGGTGAGAGGATGGGGCGGGAAGGGCGGGAGGCCAGACTGCAGAGCTGCTGAGTCAGCAAACAGGAACGGGGGAACTCCCTGTGTGCCAGGTGCTGTCCTGGGTACTCGGCTGTGGGTACAGCCAACGCAGGCACAGCACTGGTCCCTGCAGAGCTTCCGGAGTTGGGGAGGCCCTGAATGTCAGTCTGAGGACTCGGTCATTAGCCTTGGGGCTGTGGGGAGCCGTAGGAGGTTTCACACGGTCAGTTCTGGGGTAGATGGGGTCAAGTCTAGACTGGTGTGGAGGGAGAGGGATTGAAGGCAGGAACACAAGTTCAGGGATGTCTGCAGACATCAGCCTGTCCCTGGTTTACTCTTCAGCCCCTCCTTCCTGACCCCTCCCAACTTCATCCTCCGCCTCCTCCAGCTGCGGGACCCGAGAGGGGGTAGGGATTTAGATACTCACACCCATGCCTCCGTGTCCTCACAGTGATGGGACCAGTGGAGGCCGCGCCTGAATACCGCGTCATCGTGGATGCCAACAACCTGACCGTGGAGATCGAAAACGAGCTGAGTGCTGGGGGGCAGGCGGAGACAGCCCCGTGTGACGTCCCTCACGCCCCCTCTCCCTTCCCCACTGGCCTTTCCCAGGGTCCTGCCCCTAAGCCCAAGCTCAGATCGAGGTTGACCTGCTGTCACAGAGTGGCTGAAATAAGAAGGAAGTGCGTTCTCTCGCGTATGAGTCTGAGGAGCACTCGGGGATGGTGTGGCCGCTTGGCTGCCTGTAGGGCCCCGGCTCTTTCCATCCTGTTGGTCGGCCACCTGCCTCACGGTGCGAGGTGACTGCCCCACCTCCAGCCATCACCTCCGCATTCCCACCAGCAAGGCGCTTCTTTTCTTTAAGAACATGTCACTGCAGCTCACGTTTTACAGACCAGAACTAATTCCCCTGGTCACACCTAGCGGTAAGGACGGCTGAGAAAGGCTGTATGCTGGTGCCCGTGTGCCAGGCCACAAGCCAGGGCTTCAGTTACTAAAGGAAGAAGGGGACATGGGTGTTAGGGCCAACCAGCAGAGTCTACCTTCCATCTCACCCGACAACCTCCTGTCCCGTTTACCCTAGACATCATCCATAAGTTCATCCGGGATAAGTACTCAAAGAGATTCCCTGAACTGGAGTCCTTGGTCCCCAATGCACTGGATTACATCCGCACGGTCAAGGTGAGCGCAGAGAAGGTGGGGTGCTTCTGCTGGCGTGAAGGGGCAGGCGGGGCTCACTCTCGGACCCCCTCCCAGAGGCCTGAGGGTCTGGAGACGATGGAGAGGAGTGGACGAGGGCTCAGTGGTCTGCTCTGCCCAGCGTGGGAGGGACGGAGCCTGGACAGGACTTTCTCAGGGCTCCCCTCCAACCCCAGTCTCCCGAGAGGGCTTCCCCGCTGGCCTGACCCACGCTGCTCCCGCTGTGGTTGGAGCCGGTGGCATTGGAGTTGACATCCGAAGGTTGACACAGGGCAGGCACACGGAGATTTGGGGGAGAGAGACGTCTAAGTGCAGAGAGCTGGAGAGGGAACAAGTGGGGAGGAAGTGAGGCGGGGAAGGAGGGGACGGGGAAGAGGTCGGATCACGTCCAGCCTTTGGGTCTTAGGAGAAAGCCAAGGAAGGGTTTCGGAAAAGAGGGGCAGGTGTGCGTGAGGGCGGGGAGAGGAGGAGGTCCCCACGCATGTCCAGGAAAGGATTAGGATGGCGGTGGGGAAGCCCCTGCAGGGAAGCGAGGCCGCGGATTTGCACTCCGACTTGACGCAGGCCAGAGGCTTGTGAGGCCACAGTCTTTCCAGACGCCACTCTGCCCGGGCTCCGTTTCCAGGTCAGCGAAAGCAGGGCAGATGGTGTGGATGCTTGACGTGGTGGAGGCAGGAATGGTGTGGATGCTTCAGGCGGTGGAGGCAGGAGAGGCCCCCAGTGCAGAGACCCTGACTGTCCCAGTGTCCCTAAGAAGAGACCTGAGGAGGTGCTGAGCAAGAGAGGTTCTCGAGCCTTCCTGAGTTCCCGAGCCTCCCCTATCTTCTCTGCTCGCCCCCAGGAGCTGGGCAACAGCCTGGACAAGTGCAAGAACAATGAGAACCTGCAGCAGATCCTCACCAATGCCACCATCATGGTCGTCAGCGTCACCGCCTCCACCACCCAGGGGTATGTCCGCTTCGAGGGAGGCGCCGGGCCCTAATGGGATTGGGGATTAGGCTGGAGCTACACACGCAGGTGTACACACGCACACACACATACACACATGCACACACACACACAGAACCGAGAGGGCTGGGGCTGGGCACACCAGGCAGGCGGGAGACCCAGGAGGCTGGGCCCACCCGCCCCTGCAGGCAGCAGCTGTCGGAGGAGGAGCTGGAGCGGCTGGAGGAGGCCTGCGACATGGCGCTGGAGCTGAACGCCTCCAAGCACCGCATCTACGAGTATGTGGAGTCCCGGATGTCCTTCATCGCACCCAACCTGTCCATCATTATCGGGGCATCCACGGCCGCCAAGATCATGGGTGAGTCCCCGGGCTGGGTCCCATGGAGCGGGGGTCTGCTGACACTGTGACCTTGGGAAAGCTACATCCNNNN | pathogenic | 309,816 |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.