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 |
|---|---|---|---|---|---|
Does the chromosome 17 mutation at position 50193989 within gene COL1A1 (collagen type I alpha 1 chain) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Osteogenesis_imperfecta_type_I', 'likely other unspecified diseases'] | GACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCT | GACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTN | pathogenic | 278,821 |
Clinical significance of chromosome 17, position 50194129, gene COL1A1 (collagen type I alpha 1 chain): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Osteogenesis_imperfecta_type_I'] | GCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTA | GCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAN | pathogenic | 278,830 |
Assess the variant on chromosome 17, position 50194130, impacting COL1A1 (collagen type I alpha 1 chain): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Osteogenesis_imperfecta_type_I'] | CTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAG | CTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTA | pathogenic | 278,831 |
Benign or pathogenic: chromosome 17, position 50194130, gene COL1A1 (collagen type I alpha 1 chain) variant? Disease(s) if pathogenic? | pathogenic; ['Combined_osteogenesis_imperfecta_and_Ehlers-Danlos_syndrome_1', 'Ehlers-Danlos_syndrome,_arthrochalasia_type', 'Infantile_cortical_hyperostosis', 'Osteogenesis_imperfecta,_perinatal_lethal', 'Osteogenesis_imperfecta_type_I', 'Osteogenesis_imperfecta_type_III', 'Osteogenesis_imperfecta_with_normal_sclerae,_dominant_form', 'Osteoporosis'] | CTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAG | CTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGN | pathogenic | 278,832 |
Variant chromosome 17, position 50194151, gene COL1A1 (collagen type I alpha 1 chain): benign or pathogenic? Disease(s)? | pathogenic; ['Combined_osteogenesis_imperfecta_and_Ehlers-Danlos_syndrome_1', 'Ehlers-Danlos_syndrome,_arthrochalasia_type', 'Infantile_cortical_hyperostosis', 'Osteogenesis_imperfecta', 'Osteogenesis_imperfecta,_perinatal_lethal', 'Osteogenesis_imperfecta_type_I', 'Osteogenesis_imperfecta_type_III', 'Osteogenesis_imperfecta_with_normal_sclerae,_dominant_form', 'Osteoporosis'] | CCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCAC | CCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACN | pathogenic | 278,833 |
Regarding the variant at chromosome 17 and position 50194729, affecting gene COL1A1 (collagen type I alpha 1 chain): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Osteogenesis_imperfecta_type_I'] | CGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCC | CGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCN | pathogenic | 278,854 |
Located at chromosome 17 position 50194799, the variant affecting gene COL1A1 (collagen type I alpha 1 chain)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Osteogenesis_imperfecta_type_I'] | GTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTT | GTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTN | pathogenic | 278,865 |
Variant at chromosome position 50195106, chromosome 17, gene COL1A1 (collagen type I alpha 1 chain): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | AGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCC | AGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCC | benign | 278,871 |
Chromosome 17, position 50195593, gene COL1A1 (collagen type I alpha 1 chain): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Osteogenesis_imperfecta', 'Osteogenesis_imperfecta_type_I', 'Osteogenesis_imperfecta_type_III'] | GATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGT | GATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTN | pathogenic | 278,895 |
Determine whether the variant at chromosome 17, position 50195594, in gene COL1A1 (collagen type I alpha 1 chain) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Osteogenesis_imperfecta_type_I'] | ATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTA | ATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGT | pathogenic | 278,896 |
Gene COL1A1 (collagen type I alpha 1 chain) variant at chromosome position 50195594 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Osteogenesis_imperfecta_type_I', 'Osteogenesis_imperfecta_with_normal_sclerae,_dominant_form'] | ATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTA | ATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTAN | pathogenic | 278,897 |
The mutation in gene COL1A1 (collagen type I alpha 1 chain) at chromosome 17, position 50195910—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | GCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCC | GCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTC | benign | 278,908 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 50195910, gene COL1A1 (collagen type I alpha 1 chain). What disease(s) is it linked to if pathogenic? | benign | GCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCC | GCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCN | benign | 278,909 |
Located at chromosome 17 position 50196155, the variant affecting gene COL1A1 (collagen type I alpha 1 chain)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Osteogenesis_imperfecta', 'Osteogenesis_imperfecta_type_I'] | GGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGG | GGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGN | pathogenic | 278,916 |
Chromosome 17, position 50196332, gene COL1A1 (collagen type I alpha 1 chain): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Osteogenesis_imperfecta_type_I'] | CATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCT | CATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTN | pathogenic | 278,926 |
Benign or pathogenic: chromosome 17, position 50197229, gene COL1A1 variant? Disease(s) if pathogenic? | pathogenic; ['Osteogenesis_imperfecta', 'Osteogenesis_imperfecta_type_I'] | CGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGG | CGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGG | pathogenic | 278,960 |
Does the variant impacting COL1A1 on chromosome 17, position 50197229, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Osteogenesis_imperfecta', 'Osteogenesis_imperfecta_type_I'] | CGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGG | CGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGN | pathogenic | 278,961 |
Considering the genetic mutation at chromosome 17, position 50197233, impacting COL1A1: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Osteogenesis_imperfecta_type_I'] | CTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGT | CTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTNN | pathogenic | 278,962 |
A mutation at chromosome position 50197975 on chromosome 17 in gene COL1A1 (collagen type I alpha 1 chain): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Osteogenesis_imperfecta', 'Osteogenesis_imperfecta_type_I'] | GCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCCCCGGGTCTAA | GCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCCCCGGGTCTAAN | pathogenic | 278,979 |
Clinically, how would you classify the variant at chromosome 17, position 50197976, gene COL1A1 (collagen type I alpha 1 chain): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Osteogenesis_imperfecta_type_I'] | CACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCCCCGGGTCTAAG | CACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCCCCGGGTCTAA | pathogenic | 278,980 |
Regarding the variant found on chromosome 17 at position 50198005 in gene COL1A1 (collagen type I alpha 1 chain): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | CCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCCCCGGGTCTAAGAGGCACACTTGGATTTTTCACTTCCCGCC | CCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCCCCGGGTCTAAGAGGCACACTTGGATTTTTCACTTCCCG | benign | 278,989 |
Mutation found at chromosome 17 position 50198169, gene COL1A1 (collagen type I alpha 1 chain): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Osteogenesis_imperfecta', 'Osteogenesis_imperfecta_type_I', 'Postmenopausal_osteoporosis'] | CTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCCCCGGGTCTAAGAGGCACACTTGGATTTTTCACTTCCCGCCCCTCCCCCCGTTCTTCTTTCCTCAAATCCTTAAAAGCTCGCCTGCTCCTCATCAGCGCGGGTGACAGCGCCGAGGCGCCTGGCCAGGGAGGCTGTAACTCTTTCCAGTTCTCAGGAATTTAAACAAAGCTTTAGTCCGCGGTGGCTTCCAACTCCAACCTCAGC | CTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCCCCGGGTCTAAGAGGCACACTTGGATTTTTCACTTCCCGCCCCTCCCCCCGTTCTTCTTTCCTCAAATCCTTAAAAGCTCGCCTGCTCCTCATCAGCGCGGGTGACAGCGCCGAGGCGCCTGGCCAGGGAGGCTGTAACTCTTTCCAGTTCTCAGGAATTTAAACAAAGCTTTAGTCCGCGGTGGCTTCCAACTCCAACCTCAGCN | pathogenic | 278,996 |
Is the genetic change at chromosome 17, position 50198170, within gene COL1A1 (collagen type I alpha 1 chain) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Osteogenesis_imperfecta_type_I'] | TCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCCCCGGGTCTAAGAGGCACACTTGGATTTTTCACTTCCCGCCCCTCCCCCCGTTCTTCTTTCCTCAAATCCTTAAAAGCTCGCCTGCTCCTCATCAGCGCGGGTGACAGCGCCGAGGCGCCTGGCCAGGGAGGCTGTAACTCTTTCCAGTTCTCAGGAATTTAAACAAAGCTTTAGTCCGCGGTGGCTTCCAACTCCAACCTCAGCC | TCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCCCCGGGTCTAAGAGGCACACTTGGATTTTTCACTTCCCGCCCCTCCCCCCGTTCTTCTTTCCTCAAATCCTTAAAAGCTCGCCTGCTCCTCATCAGCGCGGGTGACAGCGCCGAGGCGCCTGGCCAGGGAGGCTGTAACTCTTTCCAGTTCTCAGGAATTTAAACAAAGCTTTAGTCCGCGGTGGCTTCCAACTCCAACCTCAGC | pathogenic | 278,997 |
For chromosome 17, position 50198170, gene COL1A1 (collagen type I alpha 1 chain): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Osteogenesis_imperfecta_type_I'] | TCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCCCCGGGTCTAAGAGGCACACTTGGATTTTTCACTTCCCGCCCCTCCCCCCGTTCTTCTTTCCTCAAATCCTTAAAAGCTCGCCTGCTCCTCATCAGCGCGGGTGACAGCGCCGAGGCGCCTGGCCAGGGAGGCTGTAACTCTTTCCAGTTCTCAGGAATTTAAACAAAGCTTTAGTCCGCGGTGGCTTCCAACTCCAACCTCAGCC | TCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCCCCGGGTCTAAGAGGCACACTTGGATTTTTCACTTCCCGCCCCTCCCCCCGTTCTTCTTTCCTCAAATCCTTAAAAGCTCGCCTGCTCCTCATCAGCGCGGGTGACAGCGCCGAGGCGCCTGGCCAGGGAGGCTGTAACTCTTTCCAGTTCTCAGGAATTTAAACAAAGCTTTAGTCCGCGGTGGCTTCCAACTCCAACCTCAGCCN | pathogenic | 278,998 |
Mutation found at chromosome 17 position 50198185, gene COL1A1 (collagen type I alpha 1 chain): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Osteogenesis_imperfecta_type_I'] | CCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCCCCGGGTCTAAGAGGCACACTTGGATTTTTCACTTCCCGCCCCTCCCCCCGTTCTTCTTTCCTCAAATCCTTAAAAGCTCGCCTGCTCCTCATCAGCGCGGGTGACAGCGCCGAGGCGCCTGGCCAGGGAGGCTGTAACTCTTTCCAGTTCTCAGGAATTTAAACAAAGCTTTAGTCCGCGGTGGCTTCCAACTCCAACCTCAGCCCATTGGCGCTGAAGC | CCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGTCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCCCCGGGTCTAAGAGGCACACTTGGATTTTTCACTTCCCGCCCCTCCCCCCGTTCTTCTTTCCTCAAATCCTTAAAAGCTCGCCTGCTCCTCATCAGCGCGGGTGACAGCGCCGAGGCGCCTGGCCAGGGAGGCTGTAACTCTTTCCAGTTCTCAGGAATTTAAACAAAGCTTTAGTCCGCGGTGGCTTCCAACTCCAACCTCAGCCCATTGGCGCTGAAGCN | pathogenic | 278,999 |
Does the chromosome 17 mutation at position 50198515 within gene COL1A1 (collagen type I alpha 1 chain) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | GAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCCCCGGGTCTAAGAGGCACACTTGGATTTTTCACTTCCCGCCCCTCCCCCCGTTCTTCTTTCCTCAAATCCTTAAAAGCTCGCCTGCTCCTCATCAGCGCGGGTGACAGCGCCGAGGCGCCTGGCCAGGGAGGCTGTAACTCTTTCCAGTTCTCAGGAATTTAAACAAAGCTTTAGTCCGCGGTGGCTTCCAACTCCAACCTCAGCCCATTGGCGCTGAAGCCAAGTGAAATAAAAACCACAGGGTGAGAGGGGGAGGGCGGGGGGAGAATAGGAGGGGCCCCATCGGGAGGGCAGGCTCGTGGGGAGTGGCTTGCGTGGTAGAGACAGGAGGAGGGCGAGGGAGGAGAGAAGGGAGGTCCAGCCCTCATCCCGCCCCCATTCCCTGGGCAGGTGGGGTGGCGGGGGCGGGGCTAGGAGAATGGGAGCGGCTGATTGGAAGGGAGGCCCCCCCAAGACTTGAAATGTACCTCAAAATTAGGAGACACCCTAACCTCCAGCACCTAGACATCTTAAAAGCCCGCTCTCGGGGCCATCCCCAGTCCCCCAAAGC | GAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCCCCGGGTCTAAGAGGCACACTTGGATTTTTCACTTCCCGCCCCTCCCCCCGTTCTTCTTTCCTCAAATCCTTAAAAGCTCGCCTGCTCCTCATCAGCGCGGGTGACAGCGCCGAGGCGCCTGGCCAGGGAGGCTGTAACTCTTTCCAGTTCTCAGGAATTTAAACAAAGCTTTAGTCCGCGGTGGCTTCCAACTCCAACCTCAGCCCATTGGCGCTGAAGCCAAGTGAAATAAAAACCACAGGGTGAGAGGGGGAGGGCGGGGGGAGAATAGGAGGGGCCCCATCGGGAGGGCAGGCTCGTGGGGAGTGGCTTGCGTGGTAGAGACAGGAGGAGGGCGAGGGAGGAGAGAAGGGAGGTCCAGCCCTCATCCCGCCCCCATTCCCTGGGCAGGTGGGGTGGCGGGGGCGGGGCTAGGAGAATGGGAGCGGCTGATTGGAAGGGAGGCCCCCCCAAGACTTGAAATGTACCTCAAAATTAGGAGACACCCTAACCTCCAGCACCTAGACATCTTAAAAGCCCGCTCTCGGGGCCATCCCCAGTCCCCCAAAGCNN | benign | 279,012 |
Evaluate this variant at chromosome 17, position 50199237, gene COL1A1 (collagen type I alpha 1 chain): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Osteogenesis_imperfecta_type_I', 'Osteogenesis_imperfecta_type_III', 'Osteogenesis_imperfecta_with_normal_sclerae,_dominant_form'] | AGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCCCCGGGTCTAAGAGGCACACTTGGATTTTTCACTTCCCGCCCCTCCCCCCGTTCTTCTTTCCTCAAATCCTTAAAAGCTCGCCTGCTCCTCATCAGCGCGGGTGACAGCGCCGAGGCGCCTGGCCAGGGAGGCTGTAACTCTTTCCAGTTCTCAGGAATTTAAACAAAGCTTTAGTCCGCGGTGGCTTCCAACTCCAACCTCAGCCCATTGGCGCTGAAGCCAAGTGAAATAAAAACCACAGGGTGAGAGGGGGAGGGCGGGGGGAGAATAGGAGGGGCCCCATCGGGAGGGCAGGCTCGTGGGGAGTGGCTTGCGTGGTAGAGACAGGAGGAGGGCGAGGGAGGAGAGAAGGGAGGTCCAGCCCTCATCCCGCCCCCATTCCCTGGGCAGGTGGGGTGGCGGGGGCGGGGCTAGGAGAATGGGAGCGGCTGATTGGAAGGGAGGCCCCCCCAAGACTTGAAATGTACCTCAAAATTAGGAGACACCCTAACCTCCAGCACCTAGACATCTTAAAAGCCCGCTCTCGGGGCCATCCCCAGTCCCCCAAAGCCAGCCAATGCCTCCAGGTCACTTTTAGCCAAAGAACCAAAAAGTCCGCAAATAGTCCAGAAGTTAGCTAACCACTCCCACCGCGCTAGCGGCTCCCCAGACGGCCACTAGGTGTCGGGCAACGCTAAGCAATGGGGCCGGGGCGGGGCCGACCTCACCGGCCCGACTACCTCTTTAAGAGGCTTGGGCTGCCCCATCCCTGGCTTTACTTTCCAGATCTAGAGGTGGGGGTCCGCACCCAGCAATAACCCGGGTCTTCCCGCTCCGGCTCCTGCCCCAGTAAGCGTTGGACCGGGAGACGCAGTGCTCAGCATCGGTCAGCAGGGGGCGCAAGGACCCCGCCCCGCCGAGTCCGCGCCAAAGTTTCTCATCCTCCACCCGCCCACGCTCCGCACCCCCTCCGCGGCTGCCCAGCACCCCCACGGCCCCAGCAACACTCTAGCCCGCAGAGAGGGCAATCTTTCCTTATGAATCATCCCACGGCCTTCCTGATTGCTTCTACATCTTGGGCTTCAAATGCCCCGCTCGGCGCCCCCATCCCATCTTCGACGTGCTTTCCTCACTCTGCACCCAGATCCCCACTTCCCCGGTTGCGCGCTCGGGATTCTCTCTTGCACCAACTCACGCCGCGCTCCACCCTCACCTCCCGCTCCCGGGGCGCGTTCAACCCCAACCTCGCCCCAGGGTGAGCTCCCTCCTGTCTCAGGGCGCCGAGGAAGAGCC | AGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCCCCGGGTCTAAGAGGCACACTTGGATTTTTCACTTCCCGCCCCTCCCCCCGTTCTTCTTTCCTCAAATCCTTAAAAGCTCGCCTGCTCCTCATCAGCGCGGGTGACAGCGCCGAGGCGCCTGGCCAGGGAGGCTGTAACTCTTTCCAGTTCTCAGGAATTTAAACAAAGCTTTAGTCCGCGGTGGCTTCCAACTCCAACCTCAGCCCATTGGCGCTGAAGCCAAGTGAAATAAAAACCACAGGGTGAGAGGGGGAGGGCGGGGGGAGAATAGGAGGGGCCCCATCGGGAGGGCAGGCTCGTGGGGAGTGGCTTGCGTGGTAGAGACAGGAGGAGGGCGAGGGAGGAGAGAAGGGAGGTCCAGCCCTCATCCCGCCCCCATTCCCTGGGCAGGTGGGGTGGCGGGGGCGGGGCTAGGAGAATGGGAGCGGCTGATTGGAAGGGAGGCCCCCCCAAGACTTGAAATGTACCTCAAAATTAGGAGACACCCTAACCTCCAGCACCTAGACATCTTAAAAGCCCGCTCTCGGGGCCATCCCCAGTCCCCCAAAGCCAGCCAATGCCTCCAGGTCACTTTTAGCCAAAGAACCAAAAAGTCCGCAAATAGTCCAGAAGTTAGCTAACCACTCCCACCGCGCTAGCGGCTCCCCAGACGGCCACTAGGTGTCGGGCAACGCTAAGCAATGGGGCCGGGGCGGGGCCGACCTCACCGGCCCGACTACCTCTTTAAGAGGCTTGGGCTGCCCCATCCCTGGCTTTACTTTCCAGATCTAGAGGTGGGGGTCCGCACCCAGCAATAACCCGGGTCTTCCCGCTCCGGCTCCTGCCCCAGTAAGCGTTGGACCGGGAGACGCAGTGCTCAGCATCGGTCAGCAGGGGGCGCAAGGACCCCGCCCCGCCGAGTCCGCGCCAAAGTTTCTCATCCTCCACCCGCCCACGCTCCGCACCCCCTCCGCGGCTGCCCAGCACCCCCACGGCCCCAGCAACACTCTAGCCCGCAGAGAGGGCAATCTTTCCTTATGAATCATCCCACGGCCTTCCTGATTGCTTCTACATCTTGGGCTTCAAATGCCCCGCTCGGCGCCCCCATCCCATCTTCGACGTGCTTTCCTCACTCTGCACCCAGATCCCCACTTCCCCGGTTGCGCGCTCGGGATTCTCTCTTGCACCAACTCACGCCGCGCTCCACCCTCACCTCCCGCTCCCGGGGCGCGTTCAACCCCAACCTCGCCCCAGGGTGAGCTCCCTCCTGTCTCAGGGCGCCGAGGAAGAGCCN | pathogenic | 279,019 |
Is the variant located on chromosome 17 at position 50199238, gene COL1A1 (collagen type I alpha 1 chain), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Osteogenesis_imperfecta_type_I'] | GGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCCCCGGGTCTAAGAGGCACACTTGGATTTTTCACTTCCCGCCCCTCCCCCCGTTCTTCTTTCCTCAAATCCTTAAAAGCTCGCCTGCTCCTCATCAGCGCGGGTGACAGCGCCGAGGCGCCTGGCCAGGGAGGCTGTAACTCTTTCCAGTTCTCAGGAATTTAAACAAAGCTTTAGTCCGCGGTGGCTTCCAACTCCAACCTCAGCCCATTGGCGCTGAAGCCAAGTGAAATAAAAACCACAGGGTGAGAGGGGGAGGGCGGGGGGAGAATAGGAGGGGCCCCATCGGGAGGGCAGGCTCGTGGGGAGTGGCTTGCGTGGTAGAGACAGGAGGAGGGCGAGGGAGGAGAGAAGGGAGGTCCAGCCCTCATCCCGCCCCCATTCCCTGGGCAGGTGGGGTGGCGGGGGCGGGGCTAGGAGAATGGGAGCGGCTGATTGGAAGGGAGGCCCCCCCAAGACTTGAAATGTACCTCAAAATTAGGAGACACCCTAACCTCCAGCACCTAGACATCTTAAAAGCCCGCTCTCGGGGCCATCCCCAGTCCCCCAAAGCCAGCCAATGCCTCCAGGTCACTTTTAGCCAAAGAACCAAAAAGTCCGCAAATAGTCCAGAAGTTAGCTAACCACTCCCACCGCGCTAGCGGCTCCCCAGACGGCCACTAGGTGTCGGGCAACGCTAAGCAATGGGGCCGGGGCGGGGCCGACCTCACCGGCCCGACTACCTCTTTAAGAGGCTTGGGCTGCCCCATCCCTGGCTTTACTTTCCAGATCTAGAGGTGGGGGTCCGCACCCAGCAATAACCCGGGTCTTCCCGCTCCGGCTCCTGCCCCAGTAAGCGTTGGACCGGGAGACGCAGTGCTCAGCATCGGTCAGCAGGGGGCGCAAGGACCCCGCCCCGCCGAGTCCGCGCCAAAGTTTCTCATCCTCCACCCGCCCACGCTCCGCACCCCCTCCGCGGCTGCCCAGCACCCCCACGGCCCCAGCAACACTCTAGCCCGCAGAGAGGGCAATCTTTCCTTATGAATCATCCCACGGCCTTCCTGATTGCTTCTACATCTTGGGCTTCAAATGCCCCGCTCGGCGCCCCCATCCCATCTTCGACGTGCTTTCCTCACTCTGCACCCAGATCCCCACTTCCCCGGTTGCGCGCTCGGGATTCTCTCTTGCACCAACTCACGCCGCGCTCCACCCTCACCTCCCGCTCCCGGGGCGCGTTCAACCCCAACCTCGCCCCAGGGTGAGCTCCCTCCTGTCTCAGGGCGCCGAGGAAGAGCCC | GGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCCCCGGGTCTAAGAGGCACACTTGGATTTTTCACTTCCCGCCCCTCCCCCCGTTCTTCTTTCCTCAAATCCTTAAAAGCTCGCCTGCTCCTCATCAGCGCGGGTGACAGCGCCGAGGCGCCTGGCCAGGGAGGCTGTAACTCTTTCCAGTTCTCAGGAATTTAAACAAAGCTTTAGTCCGCGGTGGCTTCCAACTCCAACCTCAGCCCATTGGCGCTGAAGCCAAGTGAAATAAAAACCACAGGGTGAGAGGGGGAGGGCGGGGGGAGAATAGGAGGGGCCCCATCGGGAGGGCAGGCTCGTGGGGAGTGGCTTGCGTGGTAGAGACAGGAGGAGGGCGAGGGAGGAGAGAAGGGAGGTCCAGCCCTCATCCCGCCCCCATTCCCTGGGCAGGTGGGGTGGCGGGGGCGGGGCTAGGAGAATGGGAGCGGCTGATTGGAAGGGAGGCCCCCCCAAGACTTGAAATGTACCTCAAAATTAGGAGACACCCTAACCTCCAGCACCTAGACATCTTAAAAGCCCGCTCTCGGGGCCATCCCCAGTCCCCCAAAGCCAGCCAATGCCTCCAGGTCACTTTTAGCCAAAGAACCAAAAAGTCCGCAAATAGTCCAGAAGTTAGCTAACCACTCCCACCGCGCTAGCGGCTCCCCAGACGGCCACTAGGTGTCGGGCAACGCTAAGCAATGGGGCCGGGGCGGGGCCGACCTCACCGGCCCGACTACCTCTTTAAGAGGCTTGGGCTGCCCCATCCCTGGCTTTACTTTCCAGATCTAGAGGTGGGGGTCCGCACCCAGCAATAACCCGGGTCTTCCCGCTCCGGCTCCTGCCCCAGTAAGCGTTGGACCGGGAGACGCAGTGCTCAGCATCGGTCAGCAGGGGGCGCAAGGACCCCGCCCCGCCGAGTCCGCGCCAAAGTTTCTCATCCTCCACCCGCCCACGCTCCGCACCCCCTCCGCGGCTGCCCAGCACCCCCACGGCCCCAGCAACACTCTAGCCCGCAGAGAGGGCAATCTTTCCTTATGAATCATCCCACGGCCTTCCTGATTGCTTCTACATCTTGGGCTTCAAATGCCCCGCTCGGCGCCCCCATCCCATCTTCGACGTGCTTTCCTCACTCTGCACCCAGATCCCCACTTCCCCGGTTGCGCGCTCGGGATTCTCTCTTGCACCAACTCACGCCGCGCTCCACCCTCACCTCCCGCTCCCGGGGCGCGTTCAACCCCAACCTCGCCCCAGGGTGAGCTCCCTCCTGTCTCAGGGCGCCGAGGAAGAGCC | pathogenic | 279,020 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 50199255, gene COL1A1 (collagen type I alpha 1 chain): what disease(s) if pathogenic? | pathogenic; ['Osteogenesis_imperfecta_type_I'] | AGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCCCCGGGTCTAAGAGGCACACTTGGATTTTTCACTTCCCGCCCCTCCCCCCGTTCTTCTTTCCTCAAATCCTTAAAAGCTCGCCTGCTCCTCATCAGCGCGGGTGACAGCGCCGAGGCGCCTGGCCAGGGAGGCTGTAACTCTTTCCAGTTCTCAGGAATTTAAACAAAGCTTTAGTCCGCGGTGGCTTCCAACTCCAACCTCAGCCCATTGGCGCTGAAGCCAAGTGAAATAAAAACCACAGGGTGAGAGGGGGAGGGCGGGGGGAGAATAGGAGGGGCCCCATCGGGAGGGCAGGCTCGTGGGGAGTGGCTTGCGTGGTAGAGACAGGAGGAGGGCGAGGGAGGAGAGAAGGGAGGTCCAGCCCTCATCCCGCCCCCATTCCCTGGGCAGGTGGGGTGGCGGGGGCGGGGCTAGGAGAATGGGAGCGGCTGATTGGAAGGGAGGCCCCCCCAAGACTTGAAATGTACCTCAAAATTAGGAGACACCCTAACCTCCAGCACCTAGACATCTTAAAAGCCCGCTCTCGGGGCCATCCCCAGTCCCCCAAAGCCAGCCAATGCCTCCAGGTCACTTTTAGCCAAAGAACCAAAAAGTCCGCAAATAGTCCAGAAGTTAGCTAACCACTCCCACCGCGCTAGCGGCTCCCCAGACGGCCACTAGGTGTCGGGCAACGCTAAGCAATGGGGCCGGGGCGGGGCCGACCTCACCGGCCCGACTACCTCTTTAAGAGGCTTGGGCTGCCCCATCCCTGGCTTTACTTTCCAGATCTAGAGGTGGGGGTCCGCACCCAGCAATAACCCGGGTCTTCCCGCTCCGGCTCCTGCCCCAGTAAGCGTTGGACCGGGAGACGCAGTGCTCAGCATCGGTCAGCAGGGGGCGCAAGGACCCCGCCCCGCCGAGTCCGCGCCAAAGTTTCTCATCCTCCACCCGCCCACGCTCCGCACCCCCTCCGCGGCTGCCCAGCACCCCCACGGCCCCAGCAACACTCTAGCCCGCAGAGAGGGCAATCTTTCCTTATGAATCATCCCACGGCCTTCCTGATTGCTTCTACATCTTGGGCTTCAAATGCCCCGCTCGGCGCCCCCATCCCATCTTCGACGTGCTTTCCTCACTCTGCACCCAGATCCCCACTTCCCCGGTTGCGCGCTCGGGATTCTCTCTTGCACCAACTCACGCCGCGCTCCACCCTCACCTCCCGCTCCCGGGGCGCGTTCAACCCCAACCTCGCCCCAGGGTGAGCTCCCTCCTGTCTCAGGGCGCCGAGGAAGAGCCCTCATCATCTCCCTTCCA | AGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCCCCGGGTCTAAGAGGCACACTTGGATTTTTCACTTCCCGCCCCTCCCCCCGTTCTTCTTTCCTCAAATCCTTAAAAGCTCGCCTGCTCCTCATCAGCGCGGGTGACAGCGCCGAGGCGCCTGGCCAGGGAGGCTGTAACTCTTTCCAGTTCTCAGGAATTTAAACAAAGCTTTAGTCCGCGGTGGCTTCCAACTCCAACCTCAGCCCATTGGCGCTGAAGCCAAGTGAAATAAAAACCACAGGGTGAGAGGGGGAGGGCGGGGGGAGAATAGGAGGGGCCCCATCGGGAGGGCAGGCTCGTGGGGAGTGGCTTGCGTGGTAGAGACAGGAGGAGGGCGAGGGAGGAGAGAAGGGAGGTCCAGCCCTCATCCCGCCCCCATTCCCTGGGCAGGTGGGGTGGCGGGGGCGGGGCTAGGAGAATGGGAGCGGCTGATTGGAAGGGAGGCCCCCCCAAGACTTGAAATGTACCTCAAAATTAGGAGACACCCTAACCTCCAGCACCTAGACATCTTAAAAGCCCGCTCTCGGGGCCATCCCCAGTCCCCCAAAGCCAGCCAATGCCTCCAGGTCACTTTTAGCCAAAGAACCAAAAAGTCCGCAAATAGTCCAGAAGTTAGCTAACCACTCCCACCGCGCTAGCGGCTCCCCAGACGGCCACTAGGTGTCGGGCAACGCTAAGCAATGGGGCCGGGGCGGGGCCGACCTCACCGGCCCGACTACCTCTTTAAGAGGCTTGGGCTGCCCCATCCCTGGCTTTACTTTCCAGATCTAGAGGTGGGGGTCCGCACCCAGCAATAACCCGGGTCTTCCCGCTCCGGCTCCTGCCCCAGTAAGCGTTGGACCGGGAGACGCAGTGCTCAGCATCGGTCAGCAGGGGGCGCAAGGACCCCGCCCCGCCGAGTCCGCGCCAAAGTTTCTCATCCTCCACCCGCCCACGCTCCGCACCCCCTCCGCGGCTGCCCAGCACCCCCACGGCCCCAGCAACACTCTAGCCCGCAGAGAGGGCAATCTTTCCTTATGAATCATCCCACGGCCTTCCTGATTGCTTCTACATCTTGGGCTTCAAATGCCCCGCTCGGCGCCCCCATCCCATCTTCGACGTGCTTTCCTCACTCTGCACCCAGATCCCCACTTCCCCGGTTGCGCGCTCGGGATTCTCTCTTGCACCAACTCACGCCGCGCTCCACCCTCACCTCCCGCTCCCGGGGCGCGTTCAACCCCAACCTCGCCCCAGGGTGAGCTCCCTCCTGTCTCAGGGCGCCGAGGAAGAGCCCTCATCATCTCCCTTCCAN | pathogenic | 279,021 |
Gene COL1A1 (collagen type I alpha 1 chain) variant at chromosome 17, position 50199264—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['COL1A1-related_disorder', 'Osteogenesis_imperfecta_type_I'] | AGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCCCCGGGTCTAAGAGGCACACTTGGATTTTTCACTTCCCGCCCCTCCCCCCGTTCTTCTTTCCTCAAATCCTTAAAAGCTCGCCTGCTCCTCATCAGCGCGGGTGACAGCGCCGAGGCGCCTGGCCAGGGAGGCTGTAACTCTTTCCAGTTCTCAGGAATTTAAACAAAGCTTTAGTCCGCGGTGGCTTCCAACTCCAACCTCAGCCCATTGGCGCTGAAGCCAAGTGAAATAAAAACCACAGGGTGAGAGGGGGAGGGCGGGGGGAGAATAGGAGGGGCCCCATCGGGAGGGCAGGCTCGTGGGGAGTGGCTTGCGTGGTAGAGACAGGAGGAGGGCGAGGGAGGAGAGAAGGGAGGTCCAGCCCTCATCCCGCCCCCATTCCCTGGGCAGGTGGGGTGGCGGGGGCGGGGCTAGGAGAATGGGAGCGGCTGATTGGAAGGGAGGCCCCCCCAAGACTTGAAATGTACCTCAAAATTAGGAGACACCCTAACCTCCAGCACCTAGACATCTTAAAAGCCCGCTCTCGGGGCCATCCCCAGTCCCCCAAAGCCAGCCAATGCCTCCAGGTCACTTTTAGCCAAAGAACCAAAAAGTCCGCAAATAGTCCAGAAGTTAGCTAACCACTCCCACCGCGCTAGCGGCTCCCCAGACGGCCACTAGGTGTCGGGCAACGCTAAGCAATGGGGCCGGGGCGGGGCCGACCTCACCGGCCCGACTACCTCTTTAAGAGGCTTGGGCTGCCCCATCCCTGGCTTTACTTTCCAGATCTAGAGGTGGGGGTCCGCACCCAGCAATAACCCGGGTCTTCCCGCTCCGGCTCCTGCCCCAGTAAGCGTTGGACCGGGAGACGCAGTGCTCAGCATCGGTCAGCAGGGGGCGCAAGGACCCCGCCCCGCCGAGTCCGCGCCAAAGTTTCTCATCCTCCACCCGCCCACGCTCCGCACCCCCTCCGCGGCTGCCCAGCACCCCCACGGCCCCAGCAACACTCTAGCCCGCAGAGAGGGCAATCTTTCCTTATGAATCATCCCACGGCCTTCCTGATTGCTTCTACATCTTGGGCTTCAAATGCCCCGCTCGGCGCCCCCATCCCATCTTCGACGTGCTTTCCTCACTCTGCACCCAGATCCCCACTTCCCCGGTTGCGCGCTCGGGATTCTCTCTTGCACCAACTCACGCCGCGCTCCACCCTCACCTCCCGCTCCCGGGGCGCGTTCAACCCCAACCTCGCCCCAGGGTGAGCTCCCTCCTGTCTCAGGGCGCCGAGGAAGAGCCCTCATCATCTCCCTTCCATTCCCGAGT | AGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCCCCGGGTCTAAGAGGCACACTTGGATTTTTCACTTCCCGCCCCTCCCCCCGTTCTTCTTTCCTCAAATCCTTAAAAGCTCGCCTGCTCCTCATCAGCGCGGGTGACAGCGCCGAGGCGCCTGGCCAGGGAGGCTGTAACTCTTTCCAGTTCTCAGGAATTTAAACAAAGCTTTAGTCCGCGGTGGCTTCCAACTCCAACCTCAGCCCATTGGCGCTGAAGCCAAGTGAAATAAAAACCACAGGGTGAGAGGGGGAGGGCGGGGGGAGAATAGGAGGGGCCCCATCGGGAGGGCAGGCTCGTGGGGAGTGGCTTGCGTGGTAGAGACAGGAGGAGGGCGAGGGAGGAGAGAAGGGAGGTCCAGCCCTCATCCCGCCCCCATTCCCTGGGCAGGTGGGGTGGCGGGGGCGGGGCTAGGAGAATGGGAGCGGCTGATTGGAAGGGAGGCCCCCCCAAGACTTGAAATGTACCTCAAAATTAGGAGACACCCTAACCTCCAGCACCTAGACATCTTAAAAGCCCGCTCTCGGGGCCATCCCCAGTCCCCCAAAGCCAGCCAATGCCTCCAGGTCACTTTTAGCCAAAGAACCAAAAAGTCCGCAAATAGTCCAGAAGTTAGCTAACCACTCCCACCGCGCTAGCGGCTCCCCAGACGGCCACTAGGTGTCGGGCAACGCTAAGCAATGGGGCCGGGGCGGGGCCGACCTCACCGGCCCGACTACCTCTTTAAGAGGCTTGGGCTGCCCCATCCCTGGCTTTACTTTCCAGATCTAGAGGTGGGGGTCCGCACCCAGCAATAACCCGGGTCTTCCCGCTCCGGCTCCTGCCCCAGTAAGCGTTGGACCGGGAGACGCAGTGCTCAGCATCGGTCAGCAGGGGGCGCAAGGACCCCGCCCCGCCGAGTCCGCGCCAAAGTTTCTCATCCTCCACCCGCCCACGCTCCGCACCCCCTCCGCGGCTGCCCAGCACCCCCACGGCCCCAGCAACACTCTAGCCCGCAGAGAGGGCAATCTTTCCTTATGAATCATCCCACGGCCTTCCTGATTGCTTCTACATCTTGGGCTTCAAATGCCCCGCTCGGCGCCCCCATCCCATCTTCGACGTGCTTTCCTCACTCTGCACCCAGATCCCCACTTCCCCGGTTGCGCGCTCGGGATTCTCTCTTGCACCAACTCACGCCGCGCTCCACCCTCACCTCCCGCTCCCGGGGCGCGTTCAACCCCAACCTCGCCCCAGGGTGAGCTCCCTCCTGTCTCAGGGCGCCGAGGAAGAGCCCTCATCATCTCCCTTCCATTCCCGAG | pathogenic | 279,023 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 50199264, gene COL1A1 (collagen type I alpha 1 chain): what disease(s) if pathogenic? | pathogenic; ['Osteogenesis_imperfecta_type_I', 'Osteogenesis_imperfecta_with_normal_sclerae,_dominant_form'] | AGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCCCCGGGTCTAAGAGGCACACTTGGATTTTTCACTTCCCGCCCCTCCCCCCGTTCTTCTTTCCTCAAATCCTTAAAAGCTCGCCTGCTCCTCATCAGCGCGGGTGACAGCGCCGAGGCGCCTGGCCAGGGAGGCTGTAACTCTTTCCAGTTCTCAGGAATTTAAACAAAGCTTTAGTCCGCGGTGGCTTCCAACTCCAACCTCAGCCCATTGGCGCTGAAGCCAAGTGAAATAAAAACCACAGGGTGAGAGGGGGAGGGCGGGGGGAGAATAGGAGGGGCCCCATCGGGAGGGCAGGCTCGTGGGGAGTGGCTTGCGTGGTAGAGACAGGAGGAGGGCGAGGGAGGAGAGAAGGGAGGTCCAGCCCTCATCCCGCCCCCATTCCCTGGGCAGGTGGGGTGGCGGGGGCGGGGCTAGGAGAATGGGAGCGGCTGATTGGAAGGGAGGCCCCCCCAAGACTTGAAATGTACCTCAAAATTAGGAGACACCCTAACCTCCAGCACCTAGACATCTTAAAAGCCCGCTCTCGGGGCCATCCCCAGTCCCCCAAAGCCAGCCAATGCCTCCAGGTCACTTTTAGCCAAAGAACCAAAAAGTCCGCAAATAGTCCAGAAGTTAGCTAACCACTCCCACCGCGCTAGCGGCTCCCCAGACGGCCACTAGGTGTCGGGCAACGCTAAGCAATGGGGCCGGGGCGGGGCCGACCTCACCGGCCCGACTACCTCTTTAAGAGGCTTGGGCTGCCCCATCCCTGGCTTTACTTTCCAGATCTAGAGGTGGGGGTCCGCACCCAGCAATAACCCGGGTCTTCCCGCTCCGGCTCCTGCCCCAGTAAGCGTTGGACCGGGAGACGCAGTGCTCAGCATCGGTCAGCAGGGGGCGCAAGGACCCCGCCCCGCCGAGTCCGCGCCAAAGTTTCTCATCCTCCACCCGCCCACGCTCCGCACCCCCTCCGCGGCTGCCCAGCACCCCCACGGCCCCAGCAACACTCTAGCCCGCAGAGAGGGCAATCTTTCCTTATGAATCATCCCACGGCCTTCCTGATTGCTTCTACATCTTGGGCTTCAAATGCCCCGCTCGGCGCCCCCATCCCATCTTCGACGTGCTTTCCTCACTCTGCACCCAGATCCCCACTTCCCCGGTTGCGCGCTCGGGATTCTCTCTTGCACCAACTCACGCCGCGCTCCACCCTCACCTCCCGCTCCCGGGGCGCGTTCAACCCCAACCTCGCCCCAGGGTGAGCTCCCTCCTGTCTCAGGGCGCCGAGGAAGAGCCCTCATCATCTCCCTTCCATTCCCGAGT | AGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCCCCGGGTCTAAGAGGCACACTTGGATTTTTCACTTCCCGCCCCTCCCCCCGTTCTTCTTTCCTCAAATCCTTAAAAGCTCGCCTGCTCCTCATCAGCGCGGGTGACAGCGCCGAGGCGCCTGGCCAGGGAGGCTGTAACTCTTTCCAGTTCTCAGGAATTTAAACAAAGCTTTAGTCCGCGGTGGCTTCCAACTCCAACCTCAGCCCATTGGCGCTGAAGCCAAGTGAAATAAAAACCACAGGGTGAGAGGGGGAGGGCGGGGGGAGAATAGGAGGGGCCCCATCGGGAGGGCAGGCTCGTGGGGAGTGGCTTGCGTGGTAGAGACAGGAGGAGGGCGAGGGAGGAGAGAAGGGAGGTCCAGCCCTCATCCCGCCCCCATTCCCTGGGCAGGTGGGGTGGCGGGGGCGGGGCTAGGAGAATGGGAGCGGCTGATTGGAAGGGAGGCCCCCCCAAGACTTGAAATGTACCTCAAAATTAGGAGACACCCTAACCTCCAGCACCTAGACATCTTAAAAGCCCGCTCTCGGGGCCATCCCCAGTCCCCCAAAGCCAGCCAATGCCTCCAGGTCACTTTTAGCCAAAGAACCAAAAAGTCCGCAAATAGTCCAGAAGTTAGCTAACCACTCCCACCGCGCTAGCGGCTCCCCAGACGGCCACTAGGTGTCGGGCAACGCTAAGCAATGGGGCCGGGGCGGGGCCGACCTCACCGGCCCGACTACCTCTTTAAGAGGCTTGGGCTGCCCCATCCCTGGCTTTACTTTCCAGATCTAGAGGTGGGGGTCCGCACCCAGCAATAACCCGGGTCTTCCCGCTCCGGCTCCTGCCCCAGTAAGCGTTGGACCGGGAGACGCAGTGCTCAGCATCGGTCAGCAGGGGGCGCAAGGACCCCGCCCCGCCGAGTCCGCGCCAAAGTTTCTCATCCTCCACCCGCCCACGCTCCGCACCCCCTCCGCGGCTGCCCAGCACCCCCACGGCCCCAGCAACACTCTAGCCCGCAGAGAGGGCAATCTTTCCTTATGAATCATCCCACGGCCTTCCTGATTGCTTCTACATCTTGGGCTTCAAATGCCCCGCTCGGCGCCCCCATCCCATCTTCGACGTGCTTTCCTCACTCTGCACCCAGATCCCCACTTCCCCGGTTGCGCGCTCGGGATTCTCTCTTGCACCAACTCACGCCGCGCTCCACCCTCACCTCCCGCTCCCGGGGCGCGTTCAACCCCAACCTCGCCCCAGGGTGAGCTCCCTCCTGTCTCAGGGCGCCGAGGAAGAGCCCTCATCATCTCCCTTCCATTCCCGAGTN | pathogenic | 279,024 |
Benign or pathogenic: chromosome 17, position 50199309, gene COL1A1 (collagen type I alpha 1 chain) variant? Disease(s) if pathogenic? | pathogenic; ['Osteogenesis_imperfecta_type_I'] | CCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCCCCGGGTCTAAGAGGCACACTTGGATTTTTCACTTCCCGCCCCTCCCCCCGTTCTTCTTTCCTCAAATCCTTAAAAGCTCGCCTGCTCCTCATCAGCGCGGGTGACAGCGCCGAGGCGCCTGGCCAGGGAGGCTGTAACTCTTTCCAGTTCTCAGGAATTTAAACAAAGCTTTAGTCCGCGGTGGCTTCCAACTCCAACCTCAGCCCATTGGCGCTGAAGCCAAGTGAAATAAAAACCACAGGGTGAGAGGGGGAGGGCGGGGGGAGAATAGGAGGGGCCCCATCGGGAGGGCAGGCTCGTGGGGAGTGGCTTGCGTGGTAGAGACAGGAGGAGGGCGAGGGAGGAGAGAAGGGAGGTCCAGCCCTCATCCCGCCCCCATTCCCTGGGCAGGTGGGGTGGCGGGGGCGGGGCTAGGAGAATGGGAGCGGCTGATTGGAAGGGAGGCCCCCCCAAGACTTGAAATGTACCTCAAAATTAGGAGACACCCTAACCTCCAGCACCTAGACATCTTAAAAGCCCGCTCTCGGGGCCATCCCCAGTCCCCCAAAGCCAGCCAATGCCTCCAGGTCACTTTTAGCCAAAGAACCAAAAAGTCCGCAAATAGTCCAGAAGTTAGCTAACCACTCCCACCGCGCTAGCGGCTCCCCAGACGGCCACTAGGTGTCGGGCAACGCTAAGCAATGGGGCCGGGGCGGGGCCGACCTCACCGGCCCGACTACCTCTTTAAGAGGCTTGGGCTGCCCCATCCCTGGCTTTACTTTCCAGATCTAGAGGTGGGGGTCCGCACCCAGCAATAACCCGGGTCTTCCCGCTCCGGCTCCTGCCCCAGTAAGCGTTGGACCGGGAGACGCAGTGCTCAGCATCGGTCAGCAGGGGGCGCAAGGACCCCGCCCCGCCGAGTCCGCGCCAAAGTTTCTCATCCTCCACCCGCCCACGCTCCGCACCCCCTCCGCGGCTGCCCAGCACCCCCACGGCCCCAGCAACACTCTAGCCCGCAGAGAGGGCAATCTTTCCTTATGAATCATCCCACGGCCTTCCTGATTGCTTCTACATCTTGGGCTTCAAATGCCCCGCTCGGCGCCCCCATCCCATCTTCGACGTGCTTTCCTCACTCTGCACCCAGATCCCCACTTCCCCGGTTGCGCGCTCGGGATTCTCTCTTGCACCAACTCACGCCGCGCTCCACCCTCACCTCCCGCTCCCGGGGCGCGTTCAACCCCAACCTCGCCCCAGGGTGAGCTCCCTCCTGTCTCAGGGCGCCGAGGAAGAGCCCTCATCATCTCCCTTCCATTCCCGAGTCTCCGGATCATCCACGTCTCGTTTTAAGCCGCGGCCCCCGGGACC | CCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCCCCGGGTCTAAGAGGCACACTTGGATTTTTCACTTCCCGCCCCTCCCCCCGTTCTTCTTTCCTCAAATCCTTAAAAGCTCGCCTGCTCCTCATCAGCGCGGGTGACAGCGCCGAGGCGCCTGGCCAGGGAGGCTGTAACTCTTTCCAGTTCTCAGGAATTTAAACAAAGCTTTAGTCCGCGGTGGCTTCCAACTCCAACCTCAGCCCATTGGCGCTGAAGCCAAGTGAAATAAAAACCACAGGGTGAGAGGGGGAGGGCGGGGGGAGAATAGGAGGGGCCCCATCGGGAGGGCAGGCTCGTGGGGAGTGGCTTGCGTGGTAGAGACAGGAGGAGGGCGAGGGAGGAGAGAAGGGAGGTCCAGCCCTCATCCCGCCCCCATTCCCTGGGCAGGTGGGGTGGCGGGGGCGGGGCTAGGAGAATGGGAGCGGCTGATTGGAAGGGAGGCCCCCCCAAGACTTGAAATGTACCTCAAAATTAGGAGACACCCTAACCTCCAGCACCTAGACATCTTAAAAGCCCGCTCTCGGGGCCATCCCCAGTCCCCCAAAGCCAGCCAATGCCTCCAGGTCACTTTTAGCCAAAGAACCAAAAAGTCCGCAAATAGTCCAGAAGTTAGCTAACCACTCCCACCGCGCTAGCGGCTCCCCAGACGGCCACTAGGTGTCGGGCAACGCTAAGCAATGGGGCCGGGGCGGGGCCGACCTCACCGGCCCGACTACCTCTTTAAGAGGCTTGGGCTGCCCCATCCCTGGCTTTACTTTCCAGATCTAGAGGTGGGGGTCCGCACCCAGCAATAACCCGGGTCTTCCCGCTCCGGCTCCTGCCCCAGTAAGCGTTGGACCGGGAGACGCAGTGCTCAGCATCGGTCAGCAGGGGGCGCAAGGACCCCGCCCCGCCGAGTCCGCGCCAAAGTTTCTCATCCTCCACCCGCCCACGCTCCGCACCCCCTCCGCGGCTGCCCAGCACCCCCACGGCCCCAGCAACACTCTAGCCCGCAGAGAGGGCAATCTTTCCTTATGAATCATCCCACGGCCTTCCTGATTGCTTCTACATCTTGGGCTTCAAATGCCCCGCTCGGCGCCCCCATCCCATCTTCGACGTGCTTTCCTCACTCTGCACCCAGATCCCCACTTCCCCGGTTGCGCGCTCGGGATTCTCTCTTGCACCAACTCACGCCGCGCTCCACCCTCACCTCCCGCTCCCGGGGCGCGTTCAACCCCAACCTCGCCCCAGGGTGAGCTCCCTCCTGTCTCAGGGCGCCGAGGAAGAGCCCTCATCATCTCCCTTCCATTCCCGAGTCTCCGGATCATCCACGTCTCGTTTTAAGCCGCGGCCCCCGGGACCN | pathogenic | 279,028 |
Classify the chromosome 17 variant at position 50199310 affecting gene COL1A1 (collagen type I alpha 1 chain) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Osteogenesis_imperfecta_type_I'] | CTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCCCCGGGTCTAAGAGGCACACTTGGATTTTTCACTTCCCGCCCCTCCCCCCGTTCTTCTTTCCTCAAATCCTTAAAAGCTCGCCTGCTCCTCATCAGCGCGGGTGACAGCGCCGAGGCGCCTGGCCAGGGAGGCTGTAACTCTTTCCAGTTCTCAGGAATTTAAACAAAGCTTTAGTCCGCGGTGGCTTCCAACTCCAACCTCAGCCCATTGGCGCTGAAGCCAAGTGAAATAAAAACCACAGGGTGAGAGGGGGAGGGCGGGGGGAGAATAGGAGGGGCCCCATCGGGAGGGCAGGCTCGTGGGGAGTGGCTTGCGTGGTAGAGACAGGAGGAGGGCGAGGGAGGAGAGAAGGGAGGTCCAGCCCTCATCCCGCCCCCATTCCCTGGGCAGGTGGGGTGGCGGGGGCGGGGCTAGGAGAATGGGAGCGGCTGATTGGAAGGGAGGCCCCCCCAAGACTTGAAATGTACCTCAAAATTAGGAGACACCCTAACCTCCAGCACCTAGACATCTTAAAAGCCCGCTCTCGGGGCCATCCCCAGTCCCCCAAAGCCAGCCAATGCCTCCAGGTCACTTTTAGCCAAAGAACCAAAAAGTCCGCAAATAGTCCAGAAGTTAGCTAACCACTCCCACCGCGCTAGCGGCTCCCCAGACGGCCACTAGGTGTCGGGCAACGCTAAGCAATGGGGCCGGGGCGGGGCCGACCTCACCGGCCCGACTACCTCTTTAAGAGGCTTGGGCTGCCCCATCCCTGGCTTTACTTTCCAGATCTAGAGGTGGGGGTCCGCACCCAGCAATAACCCGGGTCTTCCCGCTCCGGCTCCTGCCCCAGTAAGCGTTGGACCGGGAGACGCAGTGCTCAGCATCGGTCAGCAGGGGGCGCAAGGACCCCGCCCCGCCGAGTCCGCGCCAAAGTTTCTCATCCTCCACCCGCCCACGCTCCGCACCCCCTCCGCGGCTGCCCAGCACCCCCACGGCCCCAGCAACACTCTAGCCCGCAGAGAGGGCAATCTTTCCTTATGAATCATCCCACGGCCTTCCTGATTGCTTCTACATCTTGGGCTTCAAATGCCCCGCTCGGCGCCCCCATCCCATCTTCGACGTGCTTTCCTCACTCTGCACCCAGATCCCCACTTCCCCGGTTGCGCGCTCGGGATTCTCTCTTGCACCAACTCACGCCGCGCTCCACCCTCACCTCCCGCTCCCGGGGCGCGTTCAACCCCAACCTCGCCCCAGGGTGAGCTCCCTCCTGTCTCAGGGCGCCGAGGAAGAGCCCTCATCATCTCCCTTCCATTCCCGAGTCTCCGGATCATCCACGTCTCGTTTTAAGCCGCGGCCCCCGGGACCA | CTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCCCCGGGTCTAAGAGGCACACTTGGATTTTTCACTTCCCGCCCCTCCCCCCGTTCTTCTTTCCTCAAATCCTTAAAAGCTCGCCTGCTCCTCATCAGCGCGGGTGACAGCGCCGAGGCGCCTGGCCAGGGAGGCTGTAACTCTTTCCAGTTCTCAGGAATTTAAACAAAGCTTTAGTCCGCGGTGGCTTCCAACTCCAACCTCAGCCCATTGGCGCTGAAGCCAAGTGAAATAAAAACCACAGGGTGAGAGGGGGAGGGCGGGGGGAGAATAGGAGGGGCCCCATCGGGAGGGCAGGCTCGTGGGGAGTGGCTTGCGTGGTAGAGACAGGAGGAGGGCGAGGGAGGAGAGAAGGGAGGTCCAGCCCTCATCCCGCCCCCATTCCCTGGGCAGGTGGGGTGGCGGGGGCGGGGCTAGGAGAATGGGAGCGGCTGATTGGAAGGGAGGCCCCCCCAAGACTTGAAATGTACCTCAAAATTAGGAGACACCCTAACCTCCAGCACCTAGACATCTTAAAAGCCCGCTCTCGGGGCCATCCCCAGTCCCCCAAAGCCAGCCAATGCCTCCAGGTCACTTTTAGCCAAAGAACCAAAAAGTCCGCAAATAGTCCAGAAGTTAGCTAACCACTCCCACCGCGCTAGCGGCTCCCCAGACGGCCACTAGGTGTCGGGCAACGCTAAGCAATGGGGCCGGGGCGGGGCCGACCTCACCGGCCCGACTACCTCTTTAAGAGGCTTGGGCTGCCCCATCCCTGGCTTTACTTTCCAGATCTAGAGGTGGGGGTCCGCACCCAGCAATAACCCGGGTCTTCCCGCTCCGGCTCCTGCCCCAGTAAGCGTTGGACCGGGAGACGCAGTGCTCAGCATCGGTCAGCAGGGGGCGCAAGGACCCCGCCCCGCCGAGTCCGCGCCAAAGTTTCTCATCCTCCACCCGCCCACGCTCCGCACCCCCTCCGCGGCTGCCCAGCACCCCCACGGCCCCAGCAACACTCTAGCCCGCAGAGAGGGCAATCTTTCCTTATGAATCATCCCACGGCCTTCCTGATTGCTTCTACATCTTGGGCTTCAAATGCCCCGCTCGGCGCCCCCATCCCATCTTCGACGTGCTTTCCTCACTCTGCACCCAGATCCCCACTTCCCCGGTTGCGCGCTCGGGATTCTCTCTTGCACCAACTCACGCCGCGCTCCACCCTCACCTCCCGCTCCCGGGGCGCGTTCAACCCCAACCTCGCCCCAGGGTGAGCTCCCTCCTGTCTCAGGGCGCCGAGGAAGAGCCCTCATCATCTCCCTTCCATTCCCGAGTCTCCGGATCATCCACGTCTCGTTTTAAGCCGCGGCCCCCGGGACC | pathogenic | 279,029 |
Mutation at chromosome 17, position 50199310, within COL1A1 (collagen type I alpha 1 chain): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Osteogenesis_imperfecta_type_I'] | CTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCCCCGGGTCTAAGAGGCACACTTGGATTTTTCACTTCCCGCCCCTCCCCCCGTTCTTCTTTCCTCAAATCCTTAAAAGCTCGCCTGCTCCTCATCAGCGCGGGTGACAGCGCCGAGGCGCCTGGCCAGGGAGGCTGTAACTCTTTCCAGTTCTCAGGAATTTAAACAAAGCTTTAGTCCGCGGTGGCTTCCAACTCCAACCTCAGCCCATTGGCGCTGAAGCCAAGTGAAATAAAAACCACAGGGTGAGAGGGGGAGGGCGGGGGGAGAATAGGAGGGGCCCCATCGGGAGGGCAGGCTCGTGGGGAGTGGCTTGCGTGGTAGAGACAGGAGGAGGGCGAGGGAGGAGAGAAGGGAGGTCCAGCCCTCATCCCGCCCCCATTCCCTGGGCAGGTGGGGTGGCGGGGGCGGGGCTAGGAGAATGGGAGCGGCTGATTGGAAGGGAGGCCCCCCCAAGACTTGAAATGTACCTCAAAATTAGGAGACACCCTAACCTCCAGCACCTAGACATCTTAAAAGCCCGCTCTCGGGGCCATCCCCAGTCCCCCAAAGCCAGCCAATGCCTCCAGGTCACTTTTAGCCAAAGAACCAAAAAGTCCGCAAATAGTCCAGAAGTTAGCTAACCACTCCCACCGCGCTAGCGGCTCCCCAGACGGCCACTAGGTGTCGGGCAACGCTAAGCAATGGGGCCGGGGCGGGGCCGACCTCACCGGCCCGACTACCTCTTTAAGAGGCTTGGGCTGCCCCATCCCTGGCTTTACTTTCCAGATCTAGAGGTGGGGGTCCGCACCCAGCAATAACCCGGGTCTTCCCGCTCCGGCTCCTGCCCCAGTAAGCGTTGGACCGGGAGACGCAGTGCTCAGCATCGGTCAGCAGGGGGCGCAAGGACCCCGCCCCGCCGAGTCCGCGCCAAAGTTTCTCATCCTCCACCCGCCCACGCTCCGCACCCCCTCCGCGGCTGCCCAGCACCCCCACGGCCCCAGCAACACTCTAGCCCGCAGAGAGGGCAATCTTTCCTTATGAATCATCCCACGGCCTTCCTGATTGCTTCTACATCTTGGGCTTCAAATGCCCCGCTCGGCGCCCCCATCCCATCTTCGACGTGCTTTCCTCACTCTGCACCCAGATCCCCACTTCCCCGGTTGCGCGCTCGGGATTCTCTCTTGCACCAACTCACGCCGCGCTCCACCCTCACCTCCCGCTCCCGGGGCGCGTTCAACCCCAACCTCGCCCCAGGGTGAGCTCCCTCCTGTCTCAGGGCGCCGAGGAAGAGCCCTCATCATCTCCCTTCCATTCCCGAGTCTCCGGATCATCCACGTCTCGTTTTAAGCCGCGGCCCCCGGGACCA | CTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCCCCGGGTCTAAGAGGCACACTTGGATTTTTCACTTCCCGCCCCTCCCCCCGTTCTTCTTTCCTCAAATCCTTAAAAGCTCGCCTGCTCCTCATCAGCGCGGGTGACAGCGCCGAGGCGCCTGGCCAGGGAGGCTGTAACTCTTTCCAGTTCTCAGGAATTTAAACAAAGCTTTAGTCCGCGGTGGCTTCCAACTCCAACCTCAGCCCATTGGCGCTGAAGCCAAGTGAAATAAAAACCACAGGGTGAGAGGGGGAGGGCGGGGGGAGAATAGGAGGGGCCCCATCGGGAGGGCAGGCTCGTGGGGAGTGGCTTGCGTGGTAGAGACAGGAGGAGGGCGAGGGAGGAGAGAAGGGAGGTCCAGCCCTCATCCCGCCCCCATTCCCTGGGCAGGTGGGGTGGCGGGGGCGGGGCTAGGAGAATGGGAGCGGCTGATTGGAAGGGAGGCCCCCCCAAGACTTGAAATGTACCTCAAAATTAGGAGACACCCTAACCTCCAGCACCTAGACATCTTAAAAGCCCGCTCTCGGGGCCATCCCCAGTCCCCCAAAGCCAGCCAATGCCTCCAGGTCACTTTTAGCCAAAGAACCAAAAAGTCCGCAAATAGTCCAGAAGTTAGCTAACCACTCCCACCGCGCTAGCGGCTCCCCAGACGGCCACTAGGTGTCGGGCAACGCTAAGCAATGGGGCCGGGGCGGGGCCGACCTCACCGGCCCGACTACCTCTTTAAGAGGCTTGGGCTGCCCCATCCCTGGCTTTACTTTCCAGATCTAGAGGTGGGGGTCCGCACCCAGCAATAACCCGGGTCTTCCCGCTCCGGCTCCTGCCCCAGTAAGCGTTGGACCGGGAGACGCAGTGCTCAGCATCGGTCAGCAGGGGGCGCAAGGACCCCGCCCCGCCGAGTCCGCGCCAAAGTTTCTCATCCTCCACCCGCCCACGCTCCGCACCCCCTCCGCGGCTGCCCAGCACCCCCACGGCCCCAGCAACACTCTAGCCCGCAGAGAGGGCAATCTTTCCTTATGAATCATCCCACGGCCTTCCTGATTGCTTCTACATCTTGGGCTTCAAATGCCCCGCTCGGCGCCCCCATCCCATCTTCGACGTGCTTTCCTCACTCTGCACCCAGATCCCCACTTCCCCGGTTGCGCGCTCGGGATTCTCTCTTGCACCAACTCACGCCGCGCTCCACCCTCACCTCCCGCTCCCGGGGCGCGTTCAACCCCAACCTCGCCCCAGGGTGAGCTCCCTCCTGTCTCAGGGCGCCGAGGAAGAGCCCTCATCATCTCCCTTCCATTCCCGAGTCTCCGGATCATCCACGTCTCGTTTTAAGCCGCGGCCCCCGGGACCAN | pathogenic | 279,030 |
Gene COL1A1 (collagen type I alpha 1 chain) variant at chromosome position 50199762 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Cardiovascular_phenotype', 'Combined_osteogenesis_imperfecta_and_Ehlers-Danlos_syndrome_1', 'Ehlers-Danlos_syndrome,_arthrochalasia_type', 'Infantile_cortical_hyperostosis', 'Osteogenesis_imperfecta,_perinatal_lethal', 'Osteogenesis_imperfecta_type_I', 'Osteogenesis_imperfecta_type_III', 'Osteogenesis_imperfecta_with_normal_sclerae,_dominant_form', 'Osteoporosis'] | CTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCCCCGGGTCTAAGAGGCACACTTGGATTTTTCACTTCCCGCCCCTCCCCCCGTTCTTCTTTCCTCAAATCCTTAAAAGCTCGCCTGCTCCTCATCAGCGCGGGTGACAGCGCCGAGGCGCCTGGCCAGGGAGGCTGTAACTCTTTCCAGTTCTCAGGAATTTAAACAAAGCTTTAGTCCGCGGTGGCTTCCAACTCCAACCTCAGCCCATTGGCGCTGAAGCCAAGTGAAATAAAAACCACAGGGTGAGAGGGGGAGGGCGGGGGGAGAATAGGAGGGGCCCCATCGGGAGGGCAGGCTCGTGGGGAGTGGCTTGCGTGGTAGAGACAGGAGGAGGGCGAGGGAGGAGAGAAGGGAGGTCCAGCCCTCATCCCGCCCCCATTCCCTGGGCAGGTGGGGTGGCGGGGGCGGGGCTAGGAGAATGGGAGCGGCTGATTGGAAGGGAGGCCCCCCCAAGACTTGAAATGTACCTCAAAATTAGGAGACACCCTAACCTCCAGCACCTAGACATCTTAAAAGCCCGCTCTCGGGGCCATCCCCAGTCCCCCAAAGCCAGCCAATGCCTCCAGGTCACTTTTAGCCAAAGAACCAAAAAGTCCGCAAATAGTCCAGAAGTTAGCTAACCACTCCCACCGCGCTAGCGGCTCCCCAGACGGCCACTAGGTGTCGGGCAACGCTAAGCAATGGGGCCGGGGCGGGGCCGACCTCACCGGCCCGACTACCTCTTTAAGAGGCTTGGGCTGCCCCATCCCTGGCTTTACTTTCCAGATCTAGAGGTGGGGGTCCGCACCCAGCAATAACCCGGGTCTTCCCGCTCCGGCTCCTGCCCCAGTAAGCGTTGGACCGGGAGACGCAGTGCTCAGCATCGGTCAGCAGGGGGCGCAAGGACCCCGCCCCGCCGAGTCCGCGCCAAAGTTTCTCATCCTCCACCCGCCCACGCTCCGCACCCCCTCCGCGGCTGCCCAGCACCCCCACGGCCCCAGCAACACTCTAGCCCGCAGAGAGGGCAATCTTTCCTTATGAATCATCCCACGGCCTTCCTGATTGCTTCTACATCTTGGGCTTCAAATGCCCCGCTCGGCGCCCCCATCCCATCTTCGACGTGCTTTCCTCACTCTGCACCCAGATCCCCACTTCCCCGGTTGCGCGCTCGGGATTCTCTCTTGCACCAACTCACGCCGCGCTCCACCCTCACCTCCCGCTCCCGGGGCGCGTTCAACCCCAACCTCGCCCCAGGGTGAGCTCCCTCCTGTCTCAGGGCGCCGAGGAAGAGCCCTCATCATCTCCCTTCCATTCCCGAGTCTCCGGATCATCCACGTCTCGTTTTAAGCCGCGGCCCCCGGGACCAAGCGCAAGGCGCGATATAGAGTATCCTTGCACTCCCAAAAGTTTGGGACTTACTGTCTTCGTCTTGGCCCTCGACTTGGCCTTCCTCTTGGCCGTGCGTCAGGAGGGCGGTGGCCGCTAAGAGGAGCAGGAGCCGGAGGTCCACAAAGCTGAACATGTCTAGACCCTAGACATGTAGACTCTTTGTGGCTGGGGAGGGGGTTAGCGTCCGCTCATGCGTGGCCTCACACTCCGCGTGCCTCCTGCTCCGACCCCGAGGAGAAACTCCCGTCTGCTCCGACGACTGGCCCGGGCCCCTTTTATACTGTCCTGATGGAGAGCAGGGAGGAACCCTGCCCCTCGGAGAGGGGGAGCCGGCCGCCCGTGCCCCAGCCAATCAGAGCTGCCTGGCCCGGCCCCCAATTTGGGAGTTGGAATGGAGAGGGGGAGGAGGAGGGAAGGGAGTCCACCCCA | CTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAGACAAGTCCCTGTCAACCTTCTCCAATCTTACCAAGAGATCTCTGAGCATCTCTCCTGCCCTCATCCCAGTCTTCCCTCCAAAAGACCAAAGCCCAAGGAGGCATATGAAGACGTCCTGGATACTCACAGGTGCACCAGGGGGGCCAGGGAGACCACGAGGACCAGAGGGACCCTATAGAGGGAGAAGAAAGGGGGGTCATGGTGATCCCTCTGTAGGAAAGCATGTGGATGTAGTCATTCATGCCTGTTGGGACCACCCAGTCGTCCTGCATCCTTTCTGGACTCTGAGGTCCCAAAGGTGATCTGGACCTCCCAAGCTGTCTATACCAGCCGCCTATGCCCACCTCCTCTGGATACCCATTCTCTCTTCTGTCATCCATGCTCCCCCTGCTGGCTCACCATGGGGCCAGGCACGGAAATTCCTCCGGTTGATTTCTCATCATAGCCATAAGACAGCTGGGGAGCAAAGTTCTAGAACAAACAAGAGAAGTCAGAGTGAGGACAGTGAATTGAAAGGCAGAAGACGGCACTGAGGATGGAAGAAACTGACATCATGCACTTCCTGGTGTGATGTGCTGAGAAGAATAACATTGCTTTTAAGACATTCCTGCAAAGATGCATCCCTGCATCTAATCTAATGAGACAATCCCAAATTGAGGGACAGTCTGCAAAACAACTGGACTCATCAAAACTCCCAGTGCCACTAAAGACAAAGAAAGTCTGAGGAACGTTCTACATTTGTGGAAACTAGAGACATGATGATTAAACGCAATACATAATCCTGGACTGGATCCCAGATTGGGGTGGTGGGGGGTGGAATCTATAAAGGACATTATCGGGACATCGGTGAACTTTGAATACGGACTGCACATTAGAGAGTGAATTTAATCATTGTGTAGGTCAGTTAAGAGAATGCTCTTGTTTTTAGGAAAAACACACCTAAGTATTTAGGCGCAAAAGAGCCTGATGTTAGCAACTTGCTCAAACAGTTCAGAAAAAAAAAGATACATATACATAAACAGAGACTAATAAAGCACATGTCACAAACTGTGAAGGGTATGTGAGAGTTTCCTGTAGGATTCTTGCAACTTTTCTGTAAGTTTGAAATTATTTCAAAGTATAAAATTATGTCATCTGCCAAAAAACAAAAACAAAACAGGGGAGAGTGGACACACAAGGCCTCTCCACTTACTCCTCCGAGGCCAGGGGGTCCGGGAGGTCCGGGGGGTCCGGGGGGTCCGGGAAGTCCAGGCTGTCCAGGGATGCCATCTCGGCCAGGGGGGCCTGCGGGTCCCTGCAGGGGGAGAGGGCGGGGCCGGGGTGAGCGTGGGGCCGAGAGCCATGCCCACCTGCAGCCCCCCACAGCCCAGAGTGCAACGCTTACCCTTGGGCCTCGGGGGCCAGTGTCTCCCTTGGGTCCCTGTGGGATTGGGGGAGAAGAAACAAGAGGCCAGGTTAGAGAAGGGAGGACTGTGAGGAGTCACGGGCCGCGCAGGGGCAAAATTCGAGGGCAGGAGATTACCTCGACGCCGGTGGTTTCTTGGTCGGTGGGTGACTCTAGGGGACGAAGAGACGCGCGTTAGAGCCAAGGTTTGCTAATGCTGCTCCCGTCGGCAGAGGCCTCCAGCACGGAGGGCCAGCGAGCGCCGACCACCCCCAGCCCCAGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCAGGCCCCGAGCGCAGCCGCACCTGAGCCGTCGGGCAGACGGGACAGCACTCGCCCTCGGGGACTTCGGCGCCGGGGCAGTTCTTGGTCTCGTCACAGATCACGTCATCGCACAACACCTTGCCGTTGTCGCAGACGCAGATCCGGCAGGGCTCGGGTTTCCACACGTCTCGGTCATGGTACCTGAGGCCGTTCTGTACGCAGGTGATTGGTGGGACTGGGACAGGCGGAAGAGGGGCGTTGTCAGTAGTGACTGCAACCCCCAGCTTAACCACCTTTCCCCCGGGTCTAAGAGGCACACTTGGATTTTTCACTTCCCGCCCCTCCCCCCGTTCTTCTTTCCTCAAATCCTTAAAAGCTCGCCTGCTCCTCATCAGCGCGGGTGACAGCGCCGAGGCGCCTGGCCAGGGAGGCTGTAACTCTTTCCAGTTCTCAGGAATTTAAACAAAGCTTTAGTCCGCGGTGGCTTCCAACTCCAACCTCAGCCCATTGGCGCTGAAGCCAAGTGAAATAAAAACCACAGGGTGAGAGGGGGAGGGCGGGGGGAGAATAGGAGGGGCCCCATCGGGAGGGCAGGCTCGTGGGGAGTGGCTTGCGTGGTAGAGACAGGAGGAGGGCGAGGGAGGAGAGAAGGGAGGTCCAGCCCTCATCCCGCCCCCATTCCCTGGGCAGGTGGGGTGGCGGGGGCGGGGCTAGGAGAATGGGAGCGGCTGATTGGAAGGGAGGCCCCCCCAAGACTTGAAATGTACCTCAAAATTAGGAGACACCCTAACCTCCAGCACCTAGACATCTTAAAAGCCCGCTCTCGGGGCCATCCCCAGTCCCCCAAAGCCAGCCAATGCCTCCAGGTCACTTTTAGCCAAAGAACCAAAAAGTCCGCAAATAGTCCAGAAGTTAGCTAACCACTCCCACCGCGCTAGCGGCTCCCCAGACGGCCACTAGGTGTCGGGCAACGCTAAGCAATGGGGCCGGGGCGGGGCCGACCTCACCGGCCCGACTACCTCTTTAAGAGGCTTGGGCTGCCCCATCCCTGGCTTTACTTTCCAGATCTAGAGGTGGGGGTCCGCACCCAGCAATAACCCGGGTCTTCCCGCTCCGGCTCCTGCCCCAGTAAGCGTTGGACCGGGAGACGCAGTGCTCAGCATCGGTCAGCAGGGGGCGCAAGGACCCCGCCCCGCCGAGTCCGCGCCAAAGTTTCTCATCCTCCACCCGCCCACGCTCCGCACCCCCTCCGCGGCTGCCCAGCACCCCCACGGCCCCAGCAACACTCTAGCCCGCAGAGAGGGCAATCTTTCCTTATGAATCATCCCACGGCCTTCCTGATTGCTTCTACATCTTGGGCTTCAAATGCCCCGCTCGGCGCCCCCATCCCATCTTCGACGTGCTTTCCTCACTCTGCACCCAGATCCCCACTTCCCCGGTTGCGCGCTCGGGATTCTCTCTTGCACCAACTCACGCCGCGCTCCACCCTCACCTCCCGCTCCCGGGGCGCGTTCAACCCCAACCTCGCCCCAGGGTGAGCTCCCTCCTGTCTCAGGGCGCCGAGGAAGAGCCCTCATCATCTCCCTTCCATTCCCGAGTCTCCGGATCATCCACGTCTCGTTTTAAGCCGCGGCCCCCGGGACCAAGCGCAAGGCGCGATATAGAGTATCCTTGCACTCCCAAAAGTTTGGGACTTACTGTCTTCGTCTTGGCCCTCGACTTGGCCTTCCTCTTGGCCGTGCGTCAGGAGGGCGGTGGCCGCTAAGAGGAGCAGGAGCCGGAGGTCCACAAAGCTGAACATGTCTAGACCCTAGACATGTAGACTCTTTGTGGCTGGGGAGGGGGTTAGCGTCCGCTCATGCGTGGCCTCACACTCCGCGTGCCTCCTGCTCCGACCCCGAGGAGAAACTCCCGTCTGCTCCGACGACTGGCCCGGGCCCCTTTTATACTGTCCTGATGGAGAGCAGGGAGGAACCCTGCCCCTCGGAGAGGGGGAGCCGGCCGCCCGTGCCCCAGCCAATCAGAGCTGCCTGGCCCGGCCCCCAATTTGGGAGTTGGAATGGAGAGGGGGAGGAGGAGGGAAGGGAGTCCACCCCAN | pathogenic | 279,045 |
A genetic variant on chromosome 17, position 50354465, affects the gene XYLT2 (xylosyltransferase 2). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Inborn_genetic_diseases', 'Spondylo-ocular_syndrome'] | GCTGACATGTCTCTCATCAAGGAGTTCACTACTAGAGGAACATCCAGGGCCTTGGAGCCCAGCCCATTCCACTGCAGGGCAAATGGAATGGCTGCATGCCAGGGGCCTTGGAGCTGGATCTGAAAGCATGGATGGGATTTGGTCAGGCAGGGCAAGTAGGATGGGGGAACGGAGGAGGAGGTGGCTGGACATGCTGTTCAGTCACCACCAGGCCATCTAGGGAAGTGCCTGGATTTGAGGAGAGGCAGCAGGTACCAGAGCACTTAGAGCCAGGAAGCAGGGGCGCAGCAGCGGTAGAGGCGCCCCGCTGCAGGGATCCCTTCAAGGAAGAACCTGCTGCACATGCAGCGAGGTGACAGCCTCCAGCTGTGGGCACCTTCAGGCCCTGCTTCAGCTTTCAAGCCAGGGACTGAGTGTGGAGGTGGCTCAGGGCTCACCAGCTCCAGGCAGTACATGTGCCGGAGTTTTCCCAGGAGCCGGCCAGGACTTCCTCGAGGCTGTGCTGGAGGTGGACGCTCTTCTTGCCCCTCTCCTTGCATGGCCGTCTCCTTTGCGGTCCAAAGCCTTTCCCTGCCAGCTCCTGCCCCATCGTTCACAGGGGTACCCGCAGTGAATCTCATGCCCTCTCACTCTGTCTTGATCTGCTTCCTAGAGGACCTAAGCAGTATTGGGGTCTCAGGCTTCACCTCCATCATCCCCCATGGGCACTCCTCCTTCGCTGTGAGGTGGCCTCAGTCTTCCCACATGGAAATGCTTTGGATTCATCTGGAAGTTAGAGTCTTCTGAAGACCACTGTCTCCTTCCAGCCCTCGGTGGGAGTGCTGGGTCTTAGGTGGACACTTGTACCCTCGGTGGGGTCTTTGCACCCTTCCCTTGGGACACACGTAGATATTTATTTTAACATCTGCTGAAAAAGGAAGTGGTATCTGAGTCCAGAACAGAAAACCAAGCACACTGCCATGTAATCTGAGAGCCAGTGGGGGACGGGGGTGTTGGTATGATGGAGGGAGGCCCAGTGCGCCCTCAGTGGCTGGCCAGGGAGGTGCTCCCATGGTGGTACTGATTGTGCGGAGTCCTTAGGTGAAAAGCGCTTCTCTGGGTAAAAGGTGGGCAGGAACATCTAGGTCTGAGGGTGCCCCCAACCAAGATGGAACTCAAGGAACAGGAGGAGGTGAGGGTCTGCCCCAGTGATGTGTCTGCATCTCTCTTACAGAAAGGAAGGCAGAGGAAGCCACGGCCACTGGACCCTGGCGAGGGTTCCAAGGACACAGACAGTTCAGCAGGGCGACGGGGCAGCACAGGCAGAAGGCATGGGCGCTGGCGGGGCCGTGCTGAGAGCCCAGGAGTGCCCGTGGCCAAGGTGGTACGGGCAGTAACCAGCCGGCAGAGAGCCAGCCGGCGGGTCCCACCTGCCCCACCCCCGGAAGCCCCAGGCCGCCAGAACCTGAGTGGGGCAGCAGCTGGGGAGGCGCTGGTAGGGGCAGCTGGCTTCCCACCACACGGAGATACAGGGAGCGTGGAGGGCGCCCCCCAGCCCACGGACAATGGCTTCACCCCCAAGTGCGAGATCGTGGGCAAGGACGCACTGTCTGCACTGGCCCGGGCCAGCACCAAGCAGTGCCAGCAGGAGATCGCCAATGTGGTGTGCCTGCACCAGGCTGGGAGCCTCATGCCCAAGGCTGTGCCCCGGCACTGTCAGCTGACTGGTGAGGGACAGGGGTGCTCCAGCCCTTCCCAGGCGGGGGCAGGGGGGTGGCATGGCCCGGATCCTCACCCCTATCTCTCTGAGGAAGAAAGAGCCAAGGGGATCCTACCTCCCTGCCTAAGTCTTCATCCAGTGTACTTACTAAGTGGCAGAGGCAGAGTGGGGACCCACGAGCATGGAGCTCCAAGTCTAGGTTTCTTCGGAAGGCAGGCAGCTCCCTCTTCCCATCTCACCCCCACCCTGTGACCTAGGGTGGGCCTCGCCAACGCCTGTCCTCTGCTCTCAGGGAAGATGAGCCCCGGCATCCAGTGGGATGAGAGCCAAGCCCAGCAGCCCATGGATGGCCCCCCGGTGCGAATCGCCTACATGCTGGTGGTTCACGGCCGCGCCATCCGCCAGCTGAAGCGTCTCCTCAAGGCCGTTTATCACGAGCAGCACTTCTTTTACATCCATGTGGACAAGGTACTGTGGTGGGGAGAGGCCAAGGGGTCTGGGATGAGCAGAGCAGAAACAGAAGGTTGCAGACAGACAGAGTCTCTGACCTGGCCCAGGTAGCCTAGGAGGGAAACTGAGGCCCTGAACAGGGGAGTGGCAGCACGAGCCAGCTCAGCCGCTTAGGGGCTGGAGCCCTGCCCTGTGCTTTCCTCGTCTTGTGTCCCTTCACTCTGTCCTGGGGTGGGATTGGGGATGGCGATAACACTGGAGGCTAGCTGAGTGTCTCCTCCCCACCAGCGTTCCGACTACCTGCACCGGGAGGTGGTGGAGCTGGCCCAGGGCTATGATAACGTGCGGGTGACGCCCTGGCGCATGGTTACCATCTGGGGCGGGGCCAGCCTCCTGAGGATGTACCTGCGGAGCATGCGGGACCTGCTAGAGGTGCCTGGCTGGGCCTGGGACTTCTTCATCAACCTCAGTGCCACTGACTATCCAACCAGGTGTGGGGATGGGGCTCTGAGTCCTCTGCATGGGAGGGGACCCCTGTCTGGGCACCTGGGGTTGGAGGGCTTTGGTGGACCTTCTCTGCCCCATAAGCGTAACTCTGGGATCCGCCCTGCTCAGACATGGGCCCCTGGGCCCCAGCTATGTTTTAGGGGAGGGGTTGGTGTAAGATGATCTAAGAATTGAGCATGATAGGAGATGGGGAGGAGGAGGAGCCAGAGGTCTGTACCTGGTGTTCTGGGTCAGACAGCAAGGGGCAGAGGAAGGATGGGGTGGTCTTCCTCAGGGGCCTCTGGTGCTCACCACCCCAGACATCAGCCAGGGGTAGGGCACATGGCCAGCCAGCAATCAGGCAGAGAAGAAAAGCCAGAAGGTCCGCTCTGGGCCAGTGACTGAGCAACTATCTCATGTGGCTGCCTGTCACCCCATTCCTTCACCAGGACCAATGAGGAGCTGGTGGCATTCCTATCCAAGAACCGGGACAAGAATTTCCTCAAGTCACATGGCCGGGACAACTCCAGGTGAGGGGGTGGGGAAGGAGGCCCTGGCCCCAGAGTCTTGTCCCAACCCCTCCCACACAGTTGGGCTCGGTGGCTCCAGCCCTGGGTTTCAAAGCCTCCACACCAGTCACAGGTTGAGGAGTGTTGGTTGCCAGGCGGGTGAAAGAGCTTAGACCCCACCCTGCAGGATCCCCAGCCATGGCCTCTCTGCTGCCCACAGGTTCATCAAGAAACAGGGCCTGGACCGGCTCTTCCATGAGTGCGACTCACACATGTGGCGCCTGGGCGAGCGGCAGATCCCAGCAGGCATTGTGGTGGATGGCGGTTCTGACTGGTTCGTGCTGACACGCAGCTTTGTGGAGTATGTGGTGTACACAGATGACCCGCTTGTGGCCCAGCTGCGCCAGTTCTACACATACACACTGCTCCCAGCCGAGGTGGGTAGCCCAGCAGGCATGAAGGCCAGGGAGGGCGTGGGTTGGGCTGCCTGCAGCTCACCTTCCACTCTCCCTTGCTGCTTGCAGTCCTTCTTCCACACGGTGCTGGAGAACAGCCTGGCCTGTGAGACCCTCGTGGACAACAACCTGCGGGTCACCAACTGGAACCGCAAGCTGGGCTGCAAGTGCCAGTACAAGCACATTGTGGACTGGTGTGGCTGCTCCCCCAACGACTTCAAGCCACAGGACTTCCTCCGGCTGCAGGTGCTTGCCCGAGGCCCCAAGGCCCCTGGCTAGGTCTTCTCCCCTGGCTTTTCACCAGGAAAATGGCAGGGTGGGCCAGTAAGAGAATCTGGGGGGCCACGGCCTGCAGCAACCCTCAGGGGTCTGGGGCTACAACAGCAGCAGGAAAAGCCGCAGGAGGCTGAGCTCTAGGCAGTGCTGAGGGGCCAGCCCCACCATGCCCTCTGGGGCTTCCAGAGCCCTTCACCCTCCTTGCCTCTCCCACTCCAGCA | GCTGACATGTCTCTCATCAAGGAGTTCACTACTAGAGGAACATCCAGGGCCTTGGAGCCCAGCCCATTCCACTGCAGGGCAAATGGAATGGCTGCATGCCAGGGGCCTTGGAGCTGGATCTGAAAGCATGGATGGGATTTGGTCAGGCAGGGCAAGTAGGATGGGGGAACGGAGGAGGAGGTGGCTGGACATGCTGTTCAGTCACCACCAGGCCATCTAGGGAAGTGCCTGGATTTGAGGAGAGGCAGCAGGTACCAGAGCACTTAGAGCCAGGAAGCAGGGGCGCAGCAGCGGTAGAGGCGCCCCGCTGCAGGGATCCCTTCAAGGAAGAACCTGCTGCACATGCAGCGAGGTGACAGCCTCCAGCTGTGGGCACCTTCAGGCCCTGCTTCAGCTTTCAAGCCAGGGACTGAGTGTGGAGGTGGCTCAGGGCTCACCAGCTCCAGGCAGTACATGTGCCGGAGTTTTCCCAGGAGCCGGCCAGGACTTCCTCGAGGCTGTGCTGGAGGTGGACGCTCTTCTTGCCCCTCTCCTTGCATGGCCGTCTCCTTTGCGGTCCAAAGCCTTTCCCTGCCAGCTCCTGCCCCATCGTTCACAGGGGTACCCGCAGTGAATCTCATGCCCTCTCACTCTGTCTTGATCTGCTTCCTAGAGGACCTAAGCAGTATTGGGGTCTCAGGCTTCACCTCCATCATCCCCCATGGGCACTCCTCCTTCGCTGTGAGGTGGCCTCAGTCTTCCCACATGGAAATGCTTTGGATTCATCTGGAAGTTAGAGTCTTCTGAAGACCACTGTCTCCTTCCAGCCCTCGGTGGGAGTGCTGGGTCTTAGGTGGACACTTGTACCCTCGGTGGGGTCTTTGCACCCTTCCCTTGGGACACACGTAGATATTTATTTTAACATCTGCTGAAAAAGGAAGTGGTATCTGAGTCCAGAACAGAAAACCAAGCACACTGCCATGTAATCTGAGAGCCAGTGGGGGACGGGGGTGTTGGTATGATGGAGGGAGGCCCAGTGCGCCCTCAGTGGCTGGCCAGGGAGGTGCTCCCATGGTGGTACTGATTGTGCGGAGTCCTTAGGTGAAAAGCGCTTCTCTGGGTAAAAGGTGGGCAGGAACATCTAGGTCTGAGGGTGCCCCCAACCAAGATGGAACTCAAGGAACAGGAGGAGGTGAGGGTCTGCCCCAGTGATGTGTCTGCATCTCTCTTACAGAAAGGAAGGCAGAGGAAGCCACGGCCACTGGACCCTGGCGAGGGTTCCAAGGACACAGACAGTTCAGCAGGGCGACGGGGCAGCACAGGCAGAAGGCATGGGCGCTGGCGGGGCCGTGCTGAGAGCCCAGGAGTGCCCGTGGCCAAGGTGGTACGGGCAGTAACCAGCCGGCAGAGAGCCAGCCGGCGGGTCCCACCTGCCCCACCCCCGGAAGCCCCAGGCCGCCAGAACCTGAGTGGGGCAGCAGCTGGGGAGGCGCTGGTAGGGGCAGCTGGCTTCCCACCACACGGAGATACAGGGAGCGTGGAGGGCGCCCCCCAGCCCACGGACAATGGCTTCACCCCCAAGTGCGAGATCGTGGGCAAGGACGCACTGTCTGCACTGGCCCGGGCCAGCACCAAGCAGTGCCAGCAGGAGATCGCCAATGTGGTGTGCCTGCACCAGGCTGGGAGCCTCATGCCCAAGGCTGTGCCCCGGCACTGTCAGCTGACTGGTGAGGGACAGGGGTGCTCCAGCCCTTCCCAGGCGGGGGCAGGGGGGTGGCATGGCCCGGATCCTCACCCCTATCTCTCTGAGGAAGAAAGAGCCAAGGGGATCCTACCTCCCTGCCTAAGTCTTCATCCAGTGTACTTACTAAGTGGCAGAGGCAGAGTGGGGACCCACGAGCATGGAGCTCCAAGTCTAGGTTTCTTCGGAAGGCAGGCAGCTCCCTCTTCCCATCTCACCCCCACCCTGTGACCTAGGGTGGGCCTCGCCAACGCCTGTCCTCTGCTCTCAGGGAAGATGAGCCCCGGCATCCAGTGGGATGAGAGCCAAGCCCAGCAGCCCATGGATGGCCCCCCCGGTGCGAATCGCCTACATGCTGGTGGTTCACGGCCGCGCCATCCGCCAGCTGAAGCGTCTCCTCAAGGCCGTTTATCACGAGCAGCACTTCTTTTACATCCATGTGGACAAGGTACTGTGGTGGGGAGAGGCCAAGGGGTCTGGGATGAGCAGAGCAGAAACAGAAGGTTGCAGACAGACAGAGTCTCTGACCTGGCCCAGGTAGCCTAGGAGGGAAACTGAGGCCCTGAACAGGGGAGTGGCAGCACGAGCCAGCTCAGCCGCTTAGGGGCTGGAGCCCTGCCCTGTGCTTTCCTCGTCTTGTGTCCCTTCACTCTGTCCTGGGGTGGGATTGGGGATGGCGATAACACTGGAGGCTAGCTGAGTGTCTCCTCCCCACCAGCGTTCCGACTACCTGCACCGGGAGGTGGTGGAGCTGGCCCAGGGCTATGATAACGTGCGGGTGACGCCCTGGCGCATGGTTACCATCTGGGGCGGGGCCAGCCTCCTGAGGATGTACCTGCGGAGCATGCGGGACCTGCTAGAGGTGCCTGGCTGGGCCTGGGACTTCTTCATCAACCTCAGTGCCACTGACTATCCAACCAGGTGTGGGGATGGGGCTCTGAGTCCTCTGCATGGGAGGGGACCCCTGTCTGGGCACCTGGGGTTGGAGGGCTTTGGTGGACCTTCTCTGCCCCATAAGCGTAACTCTGGGATCCGCCCTGCTCAGACATGGGCCCCTGGGCCCCAGCTATGTTTTAGGGGAGGGGTTGGTGTAAGATGATCTAAGAATTGAGCATGATAGGAGATGGGGAGGAGGAGGAGCCAGAGGTCTGTACCTGGTGTTCTGGGTCAGACAGCAAGGGGCAGAGGAAGGATGGGGTGGTCTTCCTCAGGGGCCTCTGGTGCTCACCACCCCAGACATCAGCCAGGGGTAGGGCACATGGCCAGCCAGCAATCAGGCAGAGAAGAAAAGCCAGAAGGTCCGCTCTGGGCCAGTGACTGAGCAACTATCTCATGTGGCTGCCTGTCACCCCATTCCTTCACCAGGACCAATGAGGAGCTGGTGGCATTCCTATCCAAGAACCGGGACAAGAATTTCCTCAAGTCACATGGCCGGGACAACTCCAGGTGAGGGGGTGGGGAAGGAGGCCCTGGCCCCAGAGTCTTGTCCCAACCCCTCCCACACAGTTGGGCTCGGTGGCTCCAGCCCTGGGTTTCAAAGCCTCCACACCAGTCACAGGTTGAGGAGTGTTGGTTGCCAGGCGGGTGAAAGAGCTTAGACCCCACCCTGCAGGATCCCCAGCCATGGCCTCTCTGCTGCCCACAGGTTCATCAAGAAACAGGGCCTGGACCGGCTCTTCCATGAGTGCGACTCACACATGTGGCGCCTGGGCGAGCGGCAGATCCCAGCAGGCATTGTGGTGGATGGCGGTTCTGACTGGTTCGTGCTGACACGCAGCTTTGTGGAGTATGTGGTGTACACAGATGACCCGCTTGTGGCCCAGCTGCGCCAGTTCTACACATACACACTGCTCCCAGCCGAGGTGGGTAGCCCAGCAGGCATGAAGGCCAGGGAGGGCGTGGGTTGGGCTGCCTGCAGCTCACCTTCCACTCTCCCTTGCTGCTTGCAGTCCTTCTTCCACACGGTGCTGGAGAACAGCCTGGCCTGTGAGACCCTCGTGGACAACAACCTGCGGGTCACCAACTGGAACCGCAAGCTGGGCTGCAAGTGCCAGTACAAGCACATTGTGGACTGGTGTGGCTGCTCCCCCAACGACTTCAAGCCACAGGACTTCCTCCGGCTGCAGGTGCTTGCCCGAGGCCCCAAGGCCCCTGGCTAGGTCTTCTCCCCTGGCTTTTCACCAGGAAAATGGCAGGGTGGGCCAGTAAGAGAATCTGGGGGGCCACGGCCTGCAGCAACCCTCAGGGGTCTGGGGCTACAACAGCAGCAGGAAAAGCCGCAGGAGGCTGAGCTCTAGGCAGTGCTGAGGGGCCAGCCCCACCATGCCCTCTGGGGCTTCCAGAGCCCTTCACCCTCCTTGCCTCTCCCACTCCAGC | pathogenic | 279,079 |
Is the genetic change at chromosome 17, position 50356605, within gene XYLT2 (xylosyltransferase 2) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Spondylo-ocular_syndrome'] | CACTTCTTTTACATCCATGTGGACAAGGTACTGTGGTGGGGAGAGGCCAAGGGGTCTGGGATGAGCAGAGCAGAAACAGAAGGTTGCAGACAGACAGAGTCTCTGACCTGGCCCAGGTAGCCTAGGAGGGAAACTGAGGCCCTGAACAGGGGAGTGGCAGCACGAGCCAGCTCAGCCGCTTAGGGGCTGGAGCCCTGCCCTGTGCTTTCCTCGTCTTGTGTCCCTTCACTCTGTCCTGGGGTGGGATTGGGGATGGCGATAACACTGGAGGCTAGCTGAGTGTCTCCTCCCCACCAGCGTTCCGACTACCTGCACCGGGAGGTGGTGGAGCTGGCCCAGGGCTATGATAACGTGCGGGTGACGCCCTGGCGCATGGTTACCATCTGGGGCGGGGCCAGCCTCCTGAGGATGTACCTGCGGAGCATGCGGGACCTGCTAGAGGTGCCTGGCTGGGCCTGGGACTTCTTCATCAACCTCAGTGCCACTGACTATCCAACCAGGTGTGGGGATGGGGCTCTGAGTCCTCTGCATGGGAGGGGACCCCTGTCTGGGCACCTGGGGTTGGAGGGCTTTGGTGGACCTTCTCTGCCCCATAAGCGTAACTCTGGGATCCGCCCTGCTCAGACATGGGCCCCTGGGCCCCAGCTATGTTTTAGGGGAGGGGTTGGTGTAAGATGATCTAAGAATTGAGCATGATAGGAGATGGGGAGGAGGAGGAGCCAGAGGTCTGTACCTGGTGTTCTGGGTCAGACAGCAAGGGGCAGAGGAAGGATGGGGTGGTCTTCCTCAGGGGCCTCTGGTGCTCACCACCCCAGACATCAGCCAGGGGTAGGGCACATGGCCAGCCAGCAATCAGGCAGAGAAGAAAAGCCAGAAGGTCCGCTCTGGGCCAGTGACTGAGCAACTATCTCATGTGGCTGCCTGTCACCCCATTCCTTCACCAGGACCAATGAGGAGCTGGTGGCATTCCTATCCAAGAACCGGGACAAGAATTTCCTCAAGTCACATGGCCGGGACAACTCCAGGTGAGGGGGTGGGGAAGGAGGCCCTGGCCCCAGAGTCTTGTCCCAACCCCTCCCACACAGTTGGGCTCGGTGGCTCCAGCCCTGGGTTTCAAAGCCTCCACACCAGTCACAGGTTGAGGAGTGTTGGTTGCCAGGCGGGTGAAAGAGCTTAGACCCCACCCTGCAGGATCCCCAGCCATGGCCTCTCTGCTGCCCACAGGTTCATCAAGAAACAGGGCCTGGACCGGCTCTTCCATGAGTGCGACTCACACATGTGGCGCCTGGGCGAGCGGCAGATCCCAGCAGGCATTGTGGTGGATGGCGGTTCTGACTGGTTCGTGCTGACACGCAGCTTTGTGGAGTATGTGGTGTACACAGATGACCCGCTTGTGGCCCAGCTGCGCCAGTTCTACACATACACACTGCTCCCAGCCGAGGTGGGTAGCCCAGCAGGCATGAAGGCCAGGGAGGGCGTGGGTTGGGCTGCCTGCAGCTCACCTTCCACTCTCCCTTGCTGCTTGCAGTCCTTCTTCCACACGGTGCTGGAGAACAGCCTGGCCTGTGAGACCCTCGTGGACAACAACCTGCGGGTCACCAACTGGAACCGCAAGCTGGGCTGCAAGTGCCAGTACAAGCACATTGTGGACTGGTGTGGCTGCTCCCCCAACGACTTCAAGCCACAGGACTTCCTCCGGCTGCAGGTGCTTGCCCGAGGCCCCAAGGCCCCTGGCTAGGTCTTCTCCCCTGGCTTTTCACCAGGAAAATGGCAGGGTGGGCCAGTAAGAGAATCTGGGGGGCCACGGCCTGCAGCAACCCTCAGGGGTCTGGGGCTACAACAGCAGCAGGAAAAGCCGCAGGAGGCTGAGCTCTAGGCAGTGCTGAGGGGCCAGCCCCACCATGCCCTCTGGGGCTTCCAGAGCCCTTCACCCTCCTTGCCTCTCCCACTCCAGCAAGTCTCCAGACCCACCTTCTTCGCCCGGAAGTTCGAGTCGACTGTGAACCAGGAGGTGCTGGAAATCCTGGACTTCCACCTGTATGGCAGCTACCCCCCCGGCACGCCAGCCCTCAAGGCCTACTGGGAGAACACCTACGACGCGGCTGATGGCCCCAGTGGGCTCAGTGATGTCATGCTCACTGCTTACACAGCCTTCGCCCGCCTCAGCCTGCACCATGCCGCCACTGCTGCACCCCCAATGGGCACCCCACTCTGCAGGTGAGACCCCCTTCTGACATACAGCAGGCCCTTGGGGTGTGGTGCCCTAGGGGGAGGCCAACCAGAGAGTGACGTCCCCTGCCCACAACAAGGCCCCAGTCTGAAGCAGGGAAAAATGCAAATACCGAAAAGACGGCTAGAGCCAGGCATGCAGGTGCTGTGGGGGTGAGATCTGGGGAAAGGAAGTGCCTGGGGATGGGACTCCCCAGAGCCCCCTCCCTGGGACTCCAGGCCAAGTCAGGTGTGCTGATGGCATCTCCCTTTCTCCCTGCTGGCACCTTAGGTTTGAGCCCAGGGGCTTGCCGTCCAGCGTGCACCTGTATTTCTATGACGACCATTTCCAGGGCTACCTGGTGACGCAGGCGGTGCAGCCCTCAGCCCAGGGGCCGGCAGAGACGCTTGAGATGTGGCTGATGCCCCAAGGGTCGCTGAAGCTGTTGGGGCGCAGTGACCAGGCCAGCCGGCTCCAGAGTCTGGAGGTGGGACAGGTCCCCCACTTGCTTTCTCCCAACCCCCACCCAGACTTGGGGTAGTGGGAAGAGAGGGACAGACACCAAGGGAGGGGTAAGGTTATTTTTCCCAGTCATGGCAGCCATGGTGATGCCCCCATGCAGACATCCTGTGTCACCCCCCAGCCTGTGCACACTGAGGAGCACCTCCTGGTTGGGGTATGCAGAGGACATGCAGGGAGCAGGGAGGGAATTATCAGTTCCACTACAACACAAGCCCAATCTTCCAGACTACAGAGATTTCGCCTAGAGGGGCAGGGACATTCGAGTTGGGCCATGAAACTACACTTCTGAGTGGCTCCTCATAGTCTTTTTTTTTTTTTTTTTGAGACAGTCTCACTCTGTCGCAGTGGCACAATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTACCTCAGCCTCCCGCGTAGCTGGGACTACAGGCGCGCGCCACCACGCCCAGCTAATTTTTTTTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGACCAGGATGATCTCGATCTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAGAGTGCTGGGAATACAAGCGCAAGCCACCGCGCCTGGCCCCTCCTCATAGTCTCTTTCTCAGAGGCTTTGGCTTCATGTGGGAATGGTCTCTGGGCAGGACTTTGAACCTCATCCCTGCCGTATTGTCCCCAATAAGGGGGACTGACCTCCACTGCCTAGCAGTCAGAATGGAAGCCTAGAACGAATCTCAGAGCTGGGAGAGATATTAAAGGTCTCCTAGTCTGACCCCTTCATTTTGCAGATGGGGAAACTGAGGCCCAGAAAGAGACAGTGACTGGCCTGAGATTACACAGTGAGAGGCAGCTTCAGAGGAGGGAGAAGGACCTTTCCCCCACACTCCTGCCCAGCTGCCTCTCTCTCTACAGGTTGGCACTGATTGGGACCCCAAAGAGCGTCTTTTCCGGAACTTTGGGGGGTTACTGGGGCCGCTGGACGAGCCTGTGGCCGTGCAGCGCTGGGCCCGGGGCCCCAACCTCACAGCCACAGTGGTCTGGATCGACCCAACCTATGTGGTGGCCACATCTTATGACATCACAGTAGATACGGAGACTGAGGTCACGCAATACAAGCCCCCACTGAGCCGGCCCCTGCGGCCAGGGCCCTGGACTGTTCGACTCCTTCAGTTCTGGGAACCGCTGGGTGAGACCCGCTTCCTTGTGCTGCCCTTGACCTTCAACCGCAAACTACCTCTCAGGAAAGGTAAGCGTGCAGTTCTCAAATGAGGCCCAGAAGCCAGACAGAATAGGACTCGCCAGAGAGGTGACCTCAAGAAGCCAACCATCAGAGCTGACTCCCATCCCTAGAGTCAGGG | CACTTCTTTTACATCCATGTGGACAAGGTACTGTGGTGGGGAGAGGCCAAGGGGTCTGGGATGAGCAGAGCAGAAACAGAAGGTTGCAGACAGACAGAGTCTCTGACCTGGCCCAGGTAGCCTAGGAGGGAAACTGAGGCCCTGAACAGGGGAGTGGCAGCACGAGCCAGCTCAGCCGCTTAGGGGCTGGAGCCCTGCCCTGTGCTTTCCTCGTCTTGTGTCCCTTCACTCTGTCCTGGGGTGGGATTGGGGATGGCGATAACACTGGAGGCTAGCTGAGTGTCTCCTCCCCACCAGCGTTCCGACTACCTGCACCGGGAGGTGGTGGAGCTGGCCCAGGGCTATGATAACGTGCGGGTGACGCCCTGGCGCATGGTTACCATCTGGGGCGGGGCCAGCCTCCTGAGGATGTACCTGCGGAGCATGCGGGACCTGCTAGAGGTGCCTGGCTGGGCCTGGGACTTCTTCATCAACCTCAGTGCCACTGACTATCCAACCAGGTGTGGGGATGGGGCTCTGAGTCCTCTGCATGGGAGGGGACCCCTGTCTGGGCACCTGGGGTTGGAGGGCTTTGGTGGACCTTCTCTGCCCCATAAGCGTAACTCTGGGATCCGCCCTGCTCAGACATGGGCCCCTGGGCCCCAGCTATGTTTTAGGGGAGGGGTTGGTGTAAGATGATCTAAGAATTGAGCATGATAGGAGATGGGGAGGAGGAGGAGCCAGAGGTCTGTACCTGGTGTTCTGGGTCAGACAGCAAGGGGCAGAGGAAGGATGGGGTGGTCTTCCTCAGGGGCCTCTGGTGCTCACCACCCCAGACATCAGCCAGGGGTAGGGCACATGGCCAGCCAGCAATCAGGCAGAGAAGAAAAGCCAGAAGGTCCGCTCTGGGCCAGTGACTGAGCAACTATCTCATGTGGCTGCCTGTCACCCCATTCCTTCACCAGGACCAATGAGGAGCTGGTGGCATTCCTATCCAAGAACCGGGACAAGAATTTCCTCAAGTCACATGGCCGGGACAACTCCAGGTGAGGGGGTGGGGAAGGAGGCCCTGGCCCCAGAGTCTTGTCCCAACCCCTCCCACACAGTTGGGCTCGGTGGCTCCAGCCCTGGGTTTCAAAGCCTCCACACCAGTCACAGGTTGAGGAGTGTTGGTTGCCAGGCGGGTGAAAGAGCTTAGACCCCACCCTGCAGGATCCCCAGCCATGGCCTCTCTGCTGCCCACAGGTTCATCAAGAAACAGGGCCTGGACCGGCTCTTCCATGAGTGCGACTCACACATGTGGCGCCTGGGCGAGCGGCAGATCCCAGCAGGCATTGTGGTGGATGGCGGTTCTGACTGGTTCGTGCTGACACGCAGCTTTGTGGAGTATGTGGTGTACACAGATGACCCGCTTGTGGCCCAGCTGCGCCAGTTCTACACATACACACTGCTCCCAGCCGAGGTGGGTAGCCCAGCAGGCATGAAGGCCAGGGAGGGCGTGGGTTGGGCTGCCTGCAGCTCACCTTCCACTCTCCCTTGCTGCTTGCAGTCCTTCTTCCACACGGTGCTGGAGAACAGCCTGGCCTGTGAGACCCTCGTGGACAACAACCTGCGGGTCACCAACTGGAACCGCAAGCTGGGCTGCAAGTGCCAGTACAAGCACATTGTGGACTGGTGTGGCTGCTCCCCCAACGACTTCAAGCCACAGGACTTCCTCCGGCTGCAGGTGCTTGCCCGAGGCCCCAAGGCCCCTGGCTAGGTCTTCTCCCCTGGCTTTTCACCAGGAAAATGGCAGGGTGGGCCAGTAAGAGAATCTGGGGGGCCACGGCCTGCAGCAACCCTCAGGGGTCTGGGGCTACAACAGCAGCAGGAAAAGCCGCAGGAGGCTGAGCTCTAGGCAGTGCTGAGGGGCCAGCCCCACCATGCCCTCTGGGGCTTCCAGAGCCCTTCACCCTCCTTGCCTCTCCCACTCCAGCAAGTCTCCAGACCCACCTTCTTCGCCCGGAAGTTCGAGTCGACTGTGAACCAGGAGGTGCTGGAAATCCTGGACTTCCACCTGTATGGCAGCTACCCCCCGGCACGCCAGCCCTCAAGGCCTACTGGGAGAACACCTACGACGCGGCTGATGGCCCCAGTGGGCTCAGTGATGTCATGCTCACTGCTTACACAGCCTTCGCCCGCCTCAGCCTGCACCATGCCGCCACTGCTGCACCCCCAATGGGCACCCCACTCTGCAGGTGAGACCCCCTTCTGACATACAGCAGGCCCTTGGGGTGTGGTGCCCTAGGGGGAGGCCAACCAGAGAGTGACGTCCCCTGCCCACAACAAGGCCCCAGTCTGAAGCAGGGAAAAATGCAAATACCGAAAAGACGGCTAGAGCCAGGCATGCAGGTGCTGTGGGGGTGAGATCTGGGGAAAGGAAGTGCCTGGGGATGGGACTCCCCAGAGCCCCCTCCCTGGGACTCCAGGCCAAGTCAGGTGTGCTGATGGCATCTCCCTTTCTCCCTGCTGGCACCTTAGGTTTGAGCCCAGGGGCTTGCCGTCCAGCGTGCACCTGTATTTCTATGACGACCATTTCCAGGGCTACCTGGTGACGCAGGCGGTGCAGCCCTCAGCCCAGGGGCCGGCAGAGACGCTTGAGATGTGGCTGATGCCCCAAGGGTCGCTGAAGCTGTTGGGGCGCAGTGACCAGGCCAGCCGGCTCCAGAGTCTGGAGGTGGGACAGGTCCCCCACTTGCTTTCTCCCAACCCCCACCCAGACTTGGGGTAGTGGGAAGAGAGGGACAGACACCAAGGGAGGGGTAAGGTTATTTTTCCCAGTCATGGCAGCCATGGTGATGCCCCCATGCAGACATCCTGTGTCACCCCCCAGCCTGTGCACACTGAGGAGCACCTCCTGGTTGGGGTATGCAGAGGACATGCAGGGAGCAGGGAGGGAATTATCAGTTCCACTACAACACAAGCCCAATCTTCCAGACTACAGAGATTTCGCCTAGAGGGGCAGGGACATTCGAGTTGGGCCATGAAACTACACTTCTGAGTGGCTCCTCATAGTCTTTTTTTTTTTTTTTTTGAGACAGTCTCACTCTGTCGCAGTGGCACAATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTACCTCAGCCTCCCGCGTAGCTGGGACTACAGGCGCGCGCCACCACGCCCAGCTAATTTTTTTTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGACCAGGATGATCTCGATCTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAGAGTGCTGGGAATACAAGCGCAAGCCACCGCGCCTGGCCCCTCCTCATAGTCTCTTTCTCAGAGGCTTTGGCTTCATGTGGGAATGGTCTCTGGGCAGGACTTTGAACCTCATCCCTGCCGTATTGTCCCCAATAAGGGGGACTGACCTCCACTGCCTAGCAGTCAGAATGGAAGCCTAGAACGAATCTCAGAGCTGGGAGAGATATTAAAGGTCTCCTAGTCTGACCCCTTCATTTTGCAGATGGGGAAACTGAGGCCCAGAAAGAGACAGTGACTGGCCTGAGATTACACAGTGAGAGGCAGCTTCAGAGGAGGGAGAAGGACCTTTCCCCCACACTCCTGCCCAGCTGCCTCTCTCTCTACAGGTTGGCACTGATTGGGACCCCAAAGAGCGTCTTTTCCGGAACTTTGGGGGGTTACTGGGGCCGCTGGACGAGCCTGTGGCCGTGCAGCGCTGGGCCCGGGGCCCCAACCTCACAGCCACAGTGGTCTGGATCGACCCAACCTATGTGGTGGCCACATCTTATGACATCACAGTAGATACGGAGACTGAGGTCACGCAATACAAGCCCCCACTGAGCCGGCCCCTGCGGCCAGGGCCCTGGACTGTTCGACTCCTTCAGTTCTGGGAACCGCTGGGTGAGACCCGCTTCCTTGTGCTGCCCTTGACCTTCAACCGCAAACTACCTCTCAGGAAAGGTAAGCGTGCAGTTCTCAAATGAGGCCCAGAAGCCAGACAGAATAGGACTCGCCAGAGAGGTGACCTCAAGAAGCCAACCATCAGAGCTGACTCCCATCCCTAGAGTCAGGGN | pathogenic | 279,093 |
Regarding the variant found on chromosome 17 at position 56844157 in gene DGKE (diacylglycerol kinase epsilon): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Atypical_hemolytic-uremic_syndrome', 'Immunoglobulin-mediated_membranoproliferative_glomerulonephritis'] | CCAGATATATATACATCATACTTCTAAGCTGAAAAACAAACGTATACACTATAAAACTGAGAATAAATAAGTCAAAAAGTTAAGAGTGACTCTCTGGATGATTTTTATTTTATGCCTTTTTGTATTTTTAAATTTTTATAAGCTAGTATTTAAAATAATTTTTAAAATTTATACAAGTAGTTCATGTTTATATTCTGGTTTTTAGGATCTCAAGGAATACATACAAAAAAAACATAGCCTAAAAACTTAATATTCTTCCCATTCCTCAGTCCTACTTTTCTTCCCAGAGGAAACCATTATGAAATAATTCAGTGGGTATCCTTTCTGATTGCTTTTGATGGTGATATACTATTTTAAAGTTATGGTAGACCAATAAATAAAGATATTATACTTCAGCCACATAACCAGTCTATTATAGTTTCTCAAGTTGAGTTTAAAATTAACAAATGTGATTATGCAAATTATTTCAGTTTTCTCTGTAACAGATTATGCAGAGAACTCTTGCTTTTAGCAGTAAATAGGACTCGAGTATACAGCACTAAGTACTTGACAAATCTGAATATCCAAAAGGAAAAAACAGCTTAAAATAGAAGGTCACCAGAGGACCTCTGGGTGAAAGAATGTTTATCCTCTTTTCTTTTTTATATTCATTTAATTATAACCATTCTTTTCTGGTGGCCTGCTTTATCTCTTCAGTCAGATCTGCCTTATCTGTGAGTGGATTAAATACTTAGCAAATTAATAATAGAAACCCAGGACCTTTACCAGCTCTGTTCTCTGCTTGTTTTACCAATTGGGTCCAAACATAGTTGCAAATCTGAATGCACATGTTCTTACGTCTATTTCAAAAGCAAGCATATGAATTATTTTCGTATTAACTGACAAAAAGAAATGCACGGTTGTACTTACATTTACAGGTTAAGAGATTTTCAAGCTGGACCCTCAGGAACTCTTCAAGGGTCCATGTCAGTGGGGCATTTAAACAGCAAGGACTTTAGGCCTCATGAACCTACATTTCAGCCAAAGCACAAATATATATAAAACTATCATTTTAGATCAGCTTTTGTTTATGTGGATCATATCTATTGATATTTACCATGTCATAAATTAAAACTGATAAATTTTTTAAATATTTTTAAAATAATAGTTACAAATGGTTTTTATGAAAATTTAGTGAGGAGAGTTACATTGTTTTAAATTTTTGCACATTTCTTTCACTTATTATTCAGCTAGAGTATCATATTTGCTTCTATTGTCATAGCACATGTCATAAAGCTTCTGGAAAATTCCACTGTACGCTTTTGAGAGGTTGAGGGTGAAATAACTCTTTAGTGTTATTATTAAAATTTTAACCTCACAGATGCCCTGAATGGATCTTGGGGCCCACATTTTAAGAAATGCTGTTAGGCGGGGCACAGTGGCTCACTCCAGCAATCCCAGCACTTATGGGAGGCCGAGGTGGGTGGATCATTTGAGGTCTGGAGGTCAAGACCAGCCTGGTCAACGTAGTGAAACCCCATCTCTACTAAGAATATAAAAATTACCCAGGCGGTAGTAGCACGAACTTGTAATCCCAGCTACTTGGGAGACTAGGCAGAAGAATCACTTGATCCTGGGAGGCAGAGGTTGCGGTGAGCTGAGATCATGCCACTGCACTCCAGTCTGGTGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAGTGCTGTTAGATTAAACTGCCAAATATGTTCAAACCTTATTGCTCCATTTCACTGTGCAGATAGTGCATATATTTTATTTGCCAAATGTTATGGTAAGTAGTGATAAAATTATGTTTTATTTTTTAACAAAAATGATTGTTTTGTGGGTTATCATTGAGATTATGGTTTAAAATTAGTTAATGCTTGTTTCTTCCTTCCCTCAGGTGCATTTGGTGCCAGAAAACAGTACATGATGAGTGCATGAAAAATAGTTTAAAGAATGAAAAATGTGATTTTGGAGAATTCAAAAACCTAATCATTCCACCAAGTTATTTAACATCCATTAATCAGATGCGTAAAGACAAAAAAACAGATTATGAAGTGGTAATTAGAGTTTATTTCTCTAATATGATTGATTTTTAAAAAGCTGCTTAACTCATTGTTTGAGATAGTTAAGACAGTATGTAAGAAGAATTGGTGCCAGGAATAAAATAAACTTAAATAACAGATCAAGACCAAGGAGAGAAATAAAATGCTATTATGGTAAGCCATAAAATCCTACCTAGTTCCTAGAGATGGGTCAAAAATTTTGGCTCTTGAGTTCTTTCATGTCTAAAAGGAAATTGGAAATGTTATATTAGTGGTTTCCAAATCATTGCCTGCATCTGAATGATTTAGGGAGCTTTTTAAAAATACAGATTTCTGAGTAGTACCTTCATTGCCATATTTGATTTAGTAGGTATAGGGTAAGTCCAGGAATTCATCTTTTTTTTTAAGGTCCTCAGAAGATTCTGATGAACAGTCAGTTTTGGGATTCATGATTATTGTCAGTGAAAAGAAAATAGATTTTCCTCACACCTTTTTCTAAAACTATTTTTCTATTTTGAACTTTATACAGGGTCCCTAGAGATAAGTTTATGTTGCACATTAAATGCTCCCACAAATAATGGTGAACACTAAACCTGTTAACAGTTTATAGATGTAGATATGTGTATGAAATTGATGTAACTTATTGAATCTCTCAGTCTTTATGTAGCTCTTAAGGAAACATCATAAAAATTTATGGATTTATTTTCTAATTGGATATACCAAAATAATTGAACTATTTTATTTTAAAATTGTACCTTTTTCAAATTAAGATTTTATGACTTACATGCCACCTTTGTCAATATTCCTGCAAGGGAAGGGACATTTTAAATTTTTCAAACAATATTGTTTTGACAGTTTTTTTAAATGTACAATCTCTTATTTATCTGAGTTCAACCTGAGATCACAAGAGAGAAGAATCTCTAAGTAAAACTATAGAATAACTTCATTAATGGTTACATCTACAAGGAGAGGGGAAGAAGAAATGGTTACATTTTGAAAAGTATTAATTTCATTTGACTTTGAGCTATTAGAAGTCCAGATTTTTTAATCTGAGTACCCCATTTTAAAAAAAGAAATAAAACCTTGCAAAACACACCAGAATACATCCAGTAAAGGAAAATCAAGGTGAAAGGTCAGAGAAAAAAATCAGTGTCTATTCTGTGAATGGTTGAAAGTTATAGAAAGACAGATTTTCAACTCAGTTTAAGTCCAAACTTTCTAATAATTTGATGTAGCAGTGTAATGGGCTGCATTACTAGTGAGTTCCTTATGTGAGTGTGCGAGCATATGCTGGATGACTTATCTAGAATAATGTAGAAGAGAATTAAACATTGAATGGGAGCTTAAATTAGTTAATTTCTGAGGTTCCCTTCCATTCTTAGAATTCTTTGATTTTTATATTGAATTGAGAGAACTAGTATAGTTTTTATTTCAGCAAATTATAGCACCATTGTTCTCAAGGCATGGAAAATGTGCTTTTCATCTTTAAGATACTAAACCTTTTCACTCATGGCAATTTTTTTTAGCTAGCCTCTAAGCTTGGAAAGCAGTGGACCCCATTAATAATCCTGGCCAACTCTCGTAGTGGAACTAATATGGGAGAAGGACTGTTGGGAGAATTTAGGATCTTGTTGAATCCAGTCCAGGTAACTAAAGAAAAAAACTTTTTATATTAATGTTTTCATTTTCCCCAAAATGCAATGATTATTAATGCTTCAAGTCACTAATCACCTGATCATAGGAAAGAATAATAATTACAAAAAGATCAGCCATTTAAATATGTGGATAAACAGGCACTCTTGTGGGAATATAAAATGGTACAACCTCTTTAGAAGACATCTTGGCAGTTTCTTAAAAAGATAAATATAAATTTATTATATCTTCTAGCAAGTCCTCTACTAGGAATCTACCCAAGGGAAGTGAAAACATATTTCTCACAAACATTTGCATGAAAATGTTCACAGCAGCATTATTCATGATAGCTGAAAAGCATAAACAGCCCAGCTGTTCATCAGCTGATGAGTTGATAAACAAAATGTGA | CCAGATATATATACATCATACTTCTAAGCTGAAAAACAAACGTATACACTATAAAACTGAGAATAAATAAGTCAAAAAGTTAAGAGTGACTCTCTGGATGATTTTTATTTTATGCCTTTTTGTATTTTTAAATTTTTATAAGCTAGTATTTAAAATAATTTTTAAAATTTATACAAGTAGTTCATGTTTATATTCTGGTTTTTAGGATCTCAAGGAATACATACAAAAAAAACATAGCCTAAAAACTTAATATTCTTCCCATTCCTCAGTCCTACTTTTCTTCCCAGAGGAAACCATTATGAAATAATTCAGTGGGTATCCTTTCTGATTGCTTTTGATGGTGATATACTATTTTAAAGTTATGGTAGACCAATAAATAAAGATATTATACTTCAGCCACATAACCAGTCTATTATAGTTTCTCAAGTTGAGTTTAAAATTAACAAATGTGATTATGCAAATTATTTCAGTTTTCTCTGTAACAGATTATGCAGAGAACTCTTGCTTTTAGCAGTAAATAGGACTCGAGTATACAGCACTAAGTACTTGACAAATCTGAATATCCAAAAGGAAAAAACAGCTTAAAATAGAAGGTCACCAGAGGACCTCTGGGTGAAAGAATGTTTATCCTCTTTTCTTTTTTATATTCATTTAATTATAACCATTCTTTTCTGGTGGCCTGCTTTATCTCTTCAGTCAGATCTGCCTTATCTGTGAGTGGATTAAATACTTAGCAAATTAATAATAGAAACCCAGGACCTTTACCAGCTCTGTTCTCTGCTTGTTTTACCAATTGGGTCCAAACATAGTTGCAAATCTGAATGCACATGTTCTTACGTCTATTTCAAAAGCAAGCATATGAATTATTTTCGTATTAACTGACAAAAAGAAATGCACGGTTGTACTTACATTTACAGGTTAAGAGATTTTCAAGCTGGACCCTCAGGAACTCTTCAAGGGTCCATGTCAGTGGGGCATTTAAACAGCAAGGACTTTAGGCCTCATGAACCTACATTTCAGCCAAAGCACAAATATATATAAAACTATCATTTTAGATCAGCTTTTGTTTATGTGGATCATATCTATTGATATTTACCATGTCATAAATTAAAACTGATAAATTTTTTAAATATTTTTAAAATAATAGTTACAAATGGTTTTTATGAAAATTTAGTGAGGAGAGTTACATTGTTTTAAATTTTTGCACATTTCTTTCACTTATTATTCAGCTAGAGTATCATATTTGCTTCTATTGTCATAGCACATGTCATAAAGCTTCTGGAAAATTCCACTGTACGCTTTTGAGAGGTTGAGGGTGAAATAACTCTTTAGTGTTATTATTAAAATTTTAACCTCACAGATGCCCTGAATGGATCTTGGGGCCCACATTTTAAGAAATGCTGTTAGGCGGGGCACAGTGGCTCACTCCAGCAATCCCAGCACTTATGGGAGGCCGAGGTGGGTGGATCATTTGAGGTCTGGAGGTCAAGACCAGCCTGGTCAACGTAGTGAAACCCCATCTCTACTAAGAATATAAAAATTACCCAGGCGGTAGTAGCACGAACTTGTAATCCCAGCTACTTGGGAGACTAGGCAGAAGAATCACTTGATCCTGGGAGGCAGAGGTTGCGGTGAGCTGAGATCATGCCACTGCACTCCAGTCTGGTGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAGTGCTGTTAGATTAAACTGCCAAATATGTTCAAACCTTATTGCTCCATTTCACTGTGCAGATAGTGCATATATTTTATTTGCCAAATGTTATGGTAAGTAGTGATAAAATTATGTTTTATTTTTTAACAAAAATGATTGTTTTGTGGGTTATCATTGAGATTATGGTTTAAAATTAGTTAATGCTTGTTTCTTCCTTCCCTCAGGTGCATTTGGTGCCAGAAAACAGTACATGATGAGTGCATGAAAAATAGTTTAAAGAATGAAAAATGTGATTTTGGAGAATTCAAAAACCTAATCATTCCACCAAGTTATTTAACATCCATTAATCAGATGCGTAAAGACAAAAAAAACAGATTATGAAGTGGTAATTAGAGTTTATTTCTCTAATATGATTGATTTTTAAAAAGCTGCTTAACTCATTGTTTGAGATAGTTAAGACAGTATGTAAGAAGAATTGGTGCCAGGAATAAAATAAACTTAAATAACAGATCAAGACCAAGGAGAGAAATAAAATGCTATTATGGTAAGCCATAAAATCCTACCTAGTTCCTAGAGATGGGTCAAAAATTTTGGCTCTTGAGTTCTTTCATGTCTAAAAGGAAATTGGAAATGTTATATTAGTGGTTTCCAAATCATTGCCTGCATCTGAATGATTTAGGGAGCTTTTTAAAAATACAGATTTCTGAGTAGTACCTTCATTGCCATATTTGATTTAGTAGGTATAGGGTAAGTCCAGGAATTCATCTTTTTTTTTAAGGTCCTCAGAAGATTCTGATGAACAGTCAGTTTTGGGATTCATGATTATTGTCAGTGAAAAGAAAATAGATTTTCCTCACACCTTTTTCTAAAACTATTTTTCTATTTTGAACTTTATACAGGGTCCCTAGAGATAAGTTTATGTTGCACATTAAATGCTCCCACAAATAATGGTGAACACTAAACCTGTTAACAGTTTATAGATGTAGATATGTGTATGAAATTGATGTAACTTATTGAATCTCTCAGTCTTTATGTAGCTCTTAAGGAAACATCATAAAAATTTATGGATTTATTTTCTAATTGGATATACCAAAATAATTGAACTATTTTATTTTAAAATTGTACCTTTTTCAAATTAAGATTTTATGACTTACATGCCACCTTTGTCAATATTCCTGCAAGGGAAGGGACATTTTAAATTTTTCAAACAATATTGTTTTGACAGTTTTTTTAAATGTACAATCTCTTATTTATCTGAGTTCAACCTGAGATCACAAGAGAGAAGAATCTCTAAGTAAAACTATAGAATAACTTCATTAATGGTTACATCTACAAGGAGAGGGGAAGAAGAAATGGTTACATTTTGAAAAGTATTAATTTCATTTGACTTTGAGCTATTAGAAGTCCAGATTTTTTAATCTGAGTACCCCATTTTAAAAAAAGAAATAAAACCTTGCAAAACACACCAGAATACATCCAGTAAAGGAAAATCAAGGTGAAAGGTCAGAGAAAAAAATCAGTGTCTATTCTGTGAATGGTTGAAAGTTATAGAAAGACAGATTTTCAACTCAGTTTAAGTCCAAACTTTCTAATAATTTGATGTAGCAGTGTAATGGGCTGCATTACTAGTGAGTTCCTTATGTGAGTGTGCGAGCATATGCTGGATGACTTATCTAGAATAATGTAGAAGAGAATTAAACATTGAATGGGAGCTTAAATTAGTTAATTTCTGAGGTTCCCTTCCATTCTTAGAATTCTTTGATTTTTATATTGAATTGAGAGAACTAGTATAGTTTTTATTTCAGCAAATTATAGCACCATTGTTCTCAAGGCATGGAAAATGTGCTTTTCATCTTTAAGATACTAAACCTTTTCACTCATGGCAATTTTTTTTAGCTAGCCTCTAAGCTTGGAAAGCAGTGGACCCCATTAATAATCCTGGCCAACTCTCGTAGTGGAACTAATATGGGAGAAGGACTGTTGGGAGAATTTAGGATCTTGTTGAATCCAGTCCAGGTAACTAAAGAAAAAAACTTTTTATATTAATGTTTTCATTTTCCCCAAAATGCAATGATTATTAATGCTTCAAGTCACTAATCACCTGATCATAGGAAAGAATAATAATTACAAAAAGATCAGCCATTTAAATATGTGGATAAACAGGCACTCTTGTGGGAATATAAAATGGTACAACCTCTTTAGAAGACATCTTGGCAGTTTCTTAAAAAGATAAATATAAATTTATTATATCTTCTAGCAAGTCCTCTACTAGGAATCTACCCAAGGGAAGTGAAAACATATTTCTCACAAACATTTGCATGAAAATGTTCACAGCAGCATTATTCATGATAGCTGAAAAGCATAAACAGCCCAGCTGTTCATCAGCTGATGAGTTGATAAACAAAATGTG | pathogenic | 279,292 |
For chromosome 17, position 56844157, gene DGKE (diacylglycerol kinase epsilon): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Immunoglobulin-mediated_membranoproliferative_glomerulonephritis', 'Nephrotic_syndrome'] | CCAGATATATATACATCATACTTCTAAGCTGAAAAACAAACGTATACACTATAAAACTGAGAATAAATAAGTCAAAAAGTTAAGAGTGACTCTCTGGATGATTTTTATTTTATGCCTTTTTGTATTTTTAAATTTTTATAAGCTAGTATTTAAAATAATTTTTAAAATTTATACAAGTAGTTCATGTTTATATTCTGGTTTTTAGGATCTCAAGGAATACATACAAAAAAAACATAGCCTAAAAACTTAATATTCTTCCCATTCCTCAGTCCTACTTTTCTTCCCAGAGGAAACCATTATGAAATAATTCAGTGGGTATCCTTTCTGATTGCTTTTGATGGTGATATACTATTTTAAAGTTATGGTAGACCAATAAATAAAGATATTATACTTCAGCCACATAACCAGTCTATTATAGTTTCTCAAGTTGAGTTTAAAATTAACAAATGTGATTATGCAAATTATTTCAGTTTTCTCTGTAACAGATTATGCAGAGAACTCTTGCTTTTAGCAGTAAATAGGACTCGAGTATACAGCACTAAGTACTTGACAAATCTGAATATCCAAAAGGAAAAAACAGCTTAAAATAGAAGGTCACCAGAGGACCTCTGGGTGAAAGAATGTTTATCCTCTTTTCTTTTTTATATTCATTTAATTATAACCATTCTTTTCTGGTGGCCTGCTTTATCTCTTCAGTCAGATCTGCCTTATCTGTGAGTGGATTAAATACTTAGCAAATTAATAATAGAAACCCAGGACCTTTACCAGCTCTGTTCTCTGCTTGTTTTACCAATTGGGTCCAAACATAGTTGCAAATCTGAATGCACATGTTCTTACGTCTATTTCAAAAGCAAGCATATGAATTATTTTCGTATTAACTGACAAAAAGAAATGCACGGTTGTACTTACATTTACAGGTTAAGAGATTTTCAAGCTGGACCCTCAGGAACTCTTCAAGGGTCCATGTCAGTGGGGCATTTAAACAGCAAGGACTTTAGGCCTCATGAACCTACATTTCAGCCAAAGCACAAATATATATAAAACTATCATTTTAGATCAGCTTTTGTTTATGTGGATCATATCTATTGATATTTACCATGTCATAAATTAAAACTGATAAATTTTTTAAATATTTTTAAAATAATAGTTACAAATGGTTTTTATGAAAATTTAGTGAGGAGAGTTACATTGTTTTAAATTTTTGCACATTTCTTTCACTTATTATTCAGCTAGAGTATCATATTTGCTTCTATTGTCATAGCACATGTCATAAAGCTTCTGGAAAATTCCACTGTACGCTTTTGAGAGGTTGAGGGTGAAATAACTCTTTAGTGTTATTATTAAAATTTTAACCTCACAGATGCCCTGAATGGATCTTGGGGCCCACATTTTAAGAAATGCTGTTAGGCGGGGCACAGTGGCTCACTCCAGCAATCCCAGCACTTATGGGAGGCCGAGGTGGGTGGATCATTTGAGGTCTGGAGGTCAAGACCAGCCTGGTCAACGTAGTGAAACCCCATCTCTACTAAGAATATAAAAATTACCCAGGCGGTAGTAGCACGAACTTGTAATCCCAGCTACTTGGGAGACTAGGCAGAAGAATCACTTGATCCTGGGAGGCAGAGGTTGCGGTGAGCTGAGATCATGCCACTGCACTCCAGTCTGGTGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAGTGCTGTTAGATTAAACTGCCAAATATGTTCAAACCTTATTGCTCCATTTCACTGTGCAGATAGTGCATATATTTTATTTGCCAAATGTTATGGTAAGTAGTGATAAAATTATGTTTTATTTTTTAACAAAAATGATTGTTTTGTGGGTTATCATTGAGATTATGGTTTAAAATTAGTTAATGCTTGTTTCTTCCTTCCCTCAGGTGCATTTGGTGCCAGAAAACAGTACATGATGAGTGCATGAAAAATAGTTTAAAGAATGAAAAATGTGATTTTGGAGAATTCAAAAACCTAATCATTCCACCAAGTTATTTAACATCCATTAATCAGATGCGTAAAGACAAAAAAACAGATTATGAAGTGGTAATTAGAGTTTATTTCTCTAATATGATTGATTTTTAAAAAGCTGCTTAACTCATTGTTTGAGATAGTTAAGACAGTATGTAAGAAGAATTGGTGCCAGGAATAAAATAAACTTAAATAACAGATCAAGACCAAGGAGAGAAATAAAATGCTATTATGGTAAGCCATAAAATCCTACCTAGTTCCTAGAGATGGGTCAAAAATTTTGGCTCTTGAGTTCTTTCATGTCTAAAAGGAAATTGGAAATGTTATATTAGTGGTTTCCAAATCATTGCCTGCATCTGAATGATTTAGGGAGCTTTTTAAAAATACAGATTTCTGAGTAGTACCTTCATTGCCATATTTGATTTAGTAGGTATAGGGTAAGTCCAGGAATTCATCTTTTTTTTTAAGGTCCTCAGAAGATTCTGATGAACAGTCAGTTTTGGGATTCATGATTATTGTCAGTGAAAAGAAAATAGATTTTCCTCACACCTTTTTCTAAAACTATTTTTCTATTTTGAACTTTATACAGGGTCCCTAGAGATAAGTTTATGTTGCACATTAAATGCTCCCACAAATAATGGTGAACACTAAACCTGTTAACAGTTTATAGATGTAGATATGTGTATGAAATTGATGTAACTTATTGAATCTCTCAGTCTTTATGTAGCTCTTAAGGAAACATCATAAAAATTTATGGATTTATTTTCTAATTGGATATACCAAAATAATTGAACTATTTTATTTTAAAATTGTACCTTTTTCAAATTAAGATTTTATGACTTACATGCCACCTTTGTCAATATTCCTGCAAGGGAAGGGACATTTTAAATTTTTCAAACAATATTGTTTTGACAGTTTTTTTAAATGTACAATCTCTTATTTATCTGAGTTCAACCTGAGATCACAAGAGAGAAGAATCTCTAAGTAAAACTATAGAATAACTTCATTAATGGTTACATCTACAAGGAGAGGGGAAGAAGAAATGGTTACATTTTGAAAAGTATTAATTTCATTTGACTTTGAGCTATTAGAAGTCCAGATTTTTTAATCTGAGTACCCCATTTTAAAAAAAGAAATAAAACCTTGCAAAACACACCAGAATACATCCAGTAAAGGAAAATCAAGGTGAAAGGTCAGAGAAAAAAATCAGTGTCTATTCTGTGAATGGTTGAAAGTTATAGAAAGACAGATTTTCAACTCAGTTTAAGTCCAAACTTTCTAATAATTTGATGTAGCAGTGTAATGGGCTGCATTACTAGTGAGTTCCTTATGTGAGTGTGCGAGCATATGCTGGATGACTTATCTAGAATAATGTAGAAGAGAATTAAACATTGAATGGGAGCTTAAATTAGTTAATTTCTGAGGTTCCCTTCCATTCTTAGAATTCTTTGATTTTTATATTGAATTGAGAGAACTAGTATAGTTTTTATTTCAGCAAATTATAGCACCATTGTTCTCAAGGCATGGAAAATGTGCTTTTCATCTTTAAGATACTAAACCTTTTCACTCATGGCAATTTTTTTTAGCTAGCCTCTAAGCTTGGAAAGCAGTGGACCCCATTAATAATCCTGGCCAACTCTCGTAGTGGAACTAATATGGGAGAAGGACTGTTGGGAGAATTTAGGATCTTGTTGAATCCAGTCCAGGTAACTAAAGAAAAAAACTTTTTATATTAATGTTTTCATTTTCCCCAAAATGCAATGATTATTAATGCTTCAAGTCACTAATCACCTGATCATAGGAAAGAATAATAATTACAAAAAGATCAGCCATTTAAATATGTGGATAAACAGGCACTCTTGTGGGAATATAAAATGGTACAACCTCTTTAGAAGACATCTTGGCAGTTTCTTAAAAAGATAAATATAAATTTATTATATCTTCTAGCAAGTCCTCTACTAGGAATCTACCCAAGGGAAGTGAAAACATATTTCTCACAAACATTTGCATGAAAATGTTCACAGCAGCATTATTCATGATAGCTGAAAAGCATAAACAGCCCAGCTGTTCATCAGCTGATGAGTTGATAAACAAAATGTGA | CCAGATATATATACATCATACTTCTAAGCTGAAAAACAAACGTATACACTATAAAACTGAGAATAAATAAGTCAAAAAGTTAAGAGTGACTCTCTGGATGATTTTTATTTTATGCCTTTTTGTATTTTTAAATTTTTATAAGCTAGTATTTAAAATAATTTTTAAAATTTATACAAGTAGTTCATGTTTATATTCTGGTTTTTAGGATCTCAAGGAATACATACAAAAAAAACATAGCCTAAAAACTTAATATTCTTCCCATTCCTCAGTCCTACTTTTCTTCCCAGAGGAAACCATTATGAAATAATTCAGTGGGTATCCTTTCTGATTGCTTTTGATGGTGATATACTATTTTAAAGTTATGGTAGACCAATAAATAAAGATATTATACTTCAGCCACATAACCAGTCTATTATAGTTTCTCAAGTTGAGTTTAAAATTAACAAATGTGATTATGCAAATTATTTCAGTTTTCTCTGTAACAGATTATGCAGAGAACTCTTGCTTTTAGCAGTAAATAGGACTCGAGTATACAGCACTAAGTACTTGACAAATCTGAATATCCAAAAGGAAAAAACAGCTTAAAATAGAAGGTCACCAGAGGACCTCTGGGTGAAAGAATGTTTATCCTCTTTTCTTTTTTATATTCATTTAATTATAACCATTCTTTTCTGGTGGCCTGCTTTATCTCTTCAGTCAGATCTGCCTTATCTGTGAGTGGATTAAATACTTAGCAAATTAATAATAGAAACCCAGGACCTTTACCAGCTCTGTTCTCTGCTTGTTTTACCAATTGGGTCCAAACATAGTTGCAAATCTGAATGCACATGTTCTTACGTCTATTTCAAAAGCAAGCATATGAATTATTTTCGTATTAACTGACAAAAAGAAATGCACGGTTGTACTTACATTTACAGGTTAAGAGATTTTCAAGCTGGACCCTCAGGAACTCTTCAAGGGTCCATGTCAGTGGGGCATTTAAACAGCAAGGACTTTAGGCCTCATGAACCTACATTTCAGCCAAAGCACAAATATATATAAAACTATCATTTTAGATCAGCTTTTGTTTATGTGGATCATATCTATTGATATTTACCATGTCATAAATTAAAACTGATAAATTTTTTAAATATTTTTAAAATAATAGTTACAAATGGTTTTTATGAAAATTTAGTGAGGAGAGTTACATTGTTTTAAATTTTTGCACATTTCTTTCACTTATTATTCAGCTAGAGTATCATATTTGCTTCTATTGTCATAGCACATGTCATAAAGCTTCTGGAAAATTCCACTGTACGCTTTTGAGAGGTTGAGGGTGAAATAACTCTTTAGTGTTATTATTAAAATTTTAACCTCACAGATGCCCTGAATGGATCTTGGGGCCCACATTTTAAGAAATGCTGTTAGGCGGGGCACAGTGGCTCACTCCAGCAATCCCAGCACTTATGGGAGGCCGAGGTGGGTGGATCATTTGAGGTCTGGAGGTCAAGACCAGCCTGGTCAACGTAGTGAAACCCCATCTCTACTAAGAATATAAAAATTACCCAGGCGGTAGTAGCACGAACTTGTAATCCCAGCTACTTGGGAGACTAGGCAGAAGAATCACTTGATCCTGGGAGGCAGAGGTTGCGGTGAGCTGAGATCATGCCACTGCACTCCAGTCTGGTGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAGTGCTGTTAGATTAAACTGCCAAATATGTTCAAACCTTATTGCTCCATTTCACTGTGCAGATAGTGCATATATTTTATTTGCCAAATGTTATGGTAAGTAGTGATAAAATTATGTTTTATTTTTTAACAAAAATGATTGTTTTGTGGGTTATCATTGAGATTATGGTTTAAAATTAGTTAATGCTTGTTTCTTCCTTCCCTCAGGTGCATTTGGTGCCAGAAAACAGTACATGATGAGTGCATGAAAAATAGTTTAAAGAATGAAAAATGTGATTTTGGAGAATTCAAAAACCTAATCATTCCACCAAGTTATTTAACATCCATTAATCAGATGCGTAAAGACAAAAAACAGATTATGAAGTGGTAATTAGAGTTTATTTCTCTAATATGATTGATTTTTAAAAAGCTGCTTAACTCATTGTTTGAGATAGTTAAGACAGTATGTAAGAAGAATTGGTGCCAGGAATAAAATAAACTTAAATAACAGATCAAGACCAAGGAGAGAAATAAAATGCTATTATGGTAAGCCATAAAATCCTACCTAGTTCCTAGAGATGGGTCAAAAATTTTGGCTCTTGAGTTCTTTCATGTCTAAAAGGAAATTGGAAATGTTATATTAGTGGTTTCCAAATCATTGCCTGCATCTGAATGATTTAGGGAGCTTTTTAAAAATACAGATTTCTGAGTAGTACCTTCATTGCCATATTTGATTTAGTAGGTATAGGGTAAGTCCAGGAATTCATCTTTTTTTTTAAGGTCCTCAGAAGATTCTGATGAACAGTCAGTTTTGGGATTCATGATTATTGTCAGTGAAAAGAAAATAGATTTTCCTCACACCTTTTTCTAAAACTATTTTTCTATTTTGAACTTTATACAGGGTCCCTAGAGATAAGTTTATGTTGCACATTAAATGCTCCCACAAATAATGGTGAACACTAAACCTGTTAACAGTTTATAGATGTAGATATGTGTATGAAATTGATGTAACTTATTGAATCTCTCAGTCTTTATGTAGCTCTTAAGGAAACATCATAAAAATTTATGGATTTATTTTCTAATTGGATATACCAAAATAATTGAACTATTTTATTTTAAAATTGTACCTTTTTCAAATTAAGATTTTATGACTTACATGCCACCTTTGTCAATATTCCTGCAAGGGAAGGGACATTTTAAATTTTTCAAACAATATTGTTTTGACAGTTTTTTTAAATGTACAATCTCTTATTTATCTGAGTTCAACCTGAGATCACAAGAGAGAAGAATCTCTAAGTAAAACTATAGAATAACTTCATTAATGGTTACATCTACAAGGAGAGGGGAAGAAGAAATGGTTACATTTTGAAAAGTATTAATTTCATTTGACTTTGAGCTATTAGAAGTCCAGATTTTTTAATCTGAGTACCCCATTTTAAAAAAAGAAATAAAACCTTGCAAAACACACCAGAATACATCCAGTAAAGGAAAATCAAGGTGAAAGGTCAGAGAAAAAAATCAGTGTCTATTCTGTGAATGGTTGAAAGTTATAGAAAGACAGATTTTCAACTCAGTTTAAGTCCAAACTTTCTAATAATTTGATGTAGCAGTGTAATGGGCTGCATTACTAGTGAGTTCCTTATGTGAGTGTGCGAGCATATGCTGGATGACTTATCTAGAATAATGTAGAAGAGAATTAAACATTGAATGGGAGCTTAAATTAGTTAATTTCTGAGGTTCCCTTCCATTCTTAGAATTCTTTGATTTTTATATTGAATTGAGAGAACTAGTATAGTTTTTATTTCAGCAAATTATAGCACCATTGTTCTCAAGGCATGGAAAATGTGCTTTTCATCTTTAAGATACTAAACCTTTTCACTCATGGCAATTTTTTTTAGCTAGCCTCTAAGCTTGGAAAGCAGTGGACCCCATTAATAATCCTGGCCAACTCTCGTAGTGGAACTAATATGGGAGAAGGACTGTTGGGAGAATTTAGGATCTTGTTGAATCCAGTCCAGGTAACTAAAGAAAAAAACTTTTTATATTAATGTTTTCATTTTCCCCAAAATGCAATGATTATTAATGCTTCAAGTCACTAATCACCTGATCATAGGAAAGAATAATAATTACAAAAAGATCAGCCATTTAAATATGTGGATAAACAGGCACTCTTGTGGGAATATAAAATGGTACAACCTCTTTAGAAGACATCTTGGCAGTTTCTTAAAAAGATAAATATAAATTTATTATATCTTCTAGCAAGTCCTCTACTAGGAATCTACCCAAGGGAAGTGAAAACATATTTCTCACAAACATTTGCATGAAAATGTTCACAGCAGCATTATTCATGATAGCTGAAAAGCATAAACAGCCCAGCTGTTCATCAGCTGATGAGTTGATAAACAAAATGTGAN | pathogenic | 279,293 |
Evaluate the clinical significance of the mutation at chromosome 17, position 56849198 in gene DGKE (diacylglycerol kinase epsilon): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Immunoglobulin-mediated_membranoproliferative_glomerulonephritis'] | AGTTACTTGCATTTTTATGTCATTTTCTATGTATTGCAAAATTGCTTTCCAGAAATTTGTGCTAAGTTGCACTGGTGATTTTTTTTTAAGCCAGTATAAGATATGAAACACTAATTAAAGGTGAACTTAGCACATTGTGGTTTATGTGAACAAGAAGGAGGCAATGTGGTATAGTAGATAAACTATAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTTTGTTGCCGAAGCTGGAGTGCAGGGGCATGATCTTGGCTCACTGTAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTACCTCAGCCTCCCGAGTAGCTAGGATCACAAGCACACAACACCACACTGGCTAATTTTTGTATTTTTAGTAAAGACAGGATTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACGTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGTTACCACACCTAGCCTTGTATTTCAGCACTTAATTACCTGGACAATCACAGGCAAGTGATTTAACCTTCCTGCACCTCAGTTTCCAGCCCAATAGAATGAGGCTAACTCTTGCTTTGTAAAGTCAGTGTGGGGATGAGCTACAATGAATATAAAGAGTCTGGCAGGGTGCCTGGCATATTGTTAAATACATAGTAGCCAGTAATGTTATTTAACTGTATCTCTACTCATCTAGAGGGAAATCATCATTACAGATGAAGGAAAATGTTGGATAAAAATAATTTGTCTTTTTCTTTTGTTTCTAGGTTTTTGATGTAACTAAAACTCCTCCTATCAAAGCCCTACAACTCTGTACTCTTCTCCCATATTATTCAGCTCGAGTACTTGTTTGTGGAGGGGATGGGACTGTAGGGTGGGTCCTGGATGCAGTTGATGACATGAAGATTAAGGTATTAGTCTTTAAGAACTACTACAGAAGGACTTCTAAGATAAATATACTATACATATATATATATATATGGGTTTTGTTGTTGTTTTGTTGTTGTTGTTGTTTTTTCTTGAGATACAGTCTCGCACTGTCACCCAGGCTGGAGTGCAGCGGCGCAGACACAGCTAACTGCAACCTCCATTTCTCAGGTTCAAGCCATCCTCCCACCTCAGCCTACAAAGTTGCTGAGACTATAGGTGTGCGCTACCATGCCTGGCTAATTTTTGTATTTTTTGTAGAGACAGGGTTTCACCATGTTGCCTGGGCTGCTGTCAAACTCCTGGGCTCAAGCGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACATGGGTGAGCCACTATGCCCAACCTAATATAGAATATTTTTGCTTTATATTTTTTATTATGCAGATGAATATTAGACATTGCCAGCTTCAAATAGTTAAAAATGAGATGTTTTGATTAAGCAATTAGCACAAGCTTTAGCAAAACAACATACAGTTGTTATATTTGTATCCTTACTGTTTTGGTCTTATTAAATTTTACAAAATATTATTACCCAGCAAATAGTCTGAGAGAAAAATCTAAAACATATCTTCCATATTCTAGGGACAAGAAAAGTACATTCCACAAGTTGCAGTTTTGCCTCTGGGAACAGGCAACGATCTATCCAATACATTGGGTTGGGGTACAGGTTATGCTGGAGAAATTCCAGTTGCGCAGGTTTTGCGAAATGTAATGGAAGCAGATGGAATTAAACTAGATCGGTAAGTTACGTTTCCCCAAAAAGTAGATTTCTTGAGATTTAGCCATAATTGGTTAACAAGTGAAGACTTGTGTAGATGAAATGTGCCATGTAATTTAAATGTGAAAGACTATACTAGTTGTACCTACACAGATACTGGTGTTTTGTTTTATTATGTAAGAGCCGAAGTAATAAGTTACACTGAGTACTTATCCCTAAATTTGCATGCTCATATACGTGTGGTTACTTTTGTAGATGGTATTTTAATAGAAAACCCTCATTTATCCAAACATCCAGAGTATGGGGTTTATTGTAAAACGTGCTGTTTTTTTTAACTTCTGTTTTTTAGATGGAAAGTTCAAGTAACAAATAAAGGATACTACAACTTAAGAAAACCCAAGGTATGTTGTTAGTGCCTCAGTTGCAAGTGGTTTCAGCTTCATTGCACAAGATACGGCACTCTGTGGTGGGATACAGAGACCTGGTGCTTATCTCAAGGGAGCTGGCTGTGGAGCAGAACAGAAGCTTATATGCTTACCTCACAAGCTGGACTGTAAATGTGTTATGGGAGAGAACAGGGTGCAGGTATGCTTAGTTCTGCCCTAGCTGAGAAGATTCAGAGGAAGTGGTACGGGAGTTGGTCCTTAAAAAAGCAAAGGACTTTCCAGGCAGAGGGAAAAGAGGTGAGAGAGTGCAAAGCATGGTTAGCAAGTAGCAAATAATACAGAGAGAGTAGATCTGTATTTTTAAAAGATACTCTGGAGATAATGTGAAAATAGCTCAGAAGCCTGCACTAGGTAGAATCAGGATGAGGACAATGCAAAGACATTTTAGAGGTAGAATTAATCAATACTTGACAACTGATTAGTATAAAGGGGAGAGAGAAAATACATATTACTATTAGATTTCTGGTTTTTATAACTGAATATATGGAAATGACTATAAGAAAAATACCAAGTTTCAGGTTTGGGTAGGAAGAAAATGAGATAGATATTGGGCATATCAATCTAAAAGTTTTCGTAGTGTTAAACAAGAAGTTGGACGTTTAGGCTTATTGCTCAGGAATAAAGACAGAGCTAGAGATGCAGATTGAGGAATCTAGACTGGGTTAGGAAGTAAAATAAACTGGGGAGGGGGCAGGGGGAGTAGCCCAAGTTGTGGGATTCACATCCCTATTTATCAGCCTTTGAACTGAAGCCTTATTTCTGATAATTGTTTAAATGCTGAGAATGCATAAGAGAATGTGGGGAGTGAGAGGGGAAAAGAGGGCCAAGAACTACATCTTTTCTTTTTTTTTTTTTCTTTTGTTGTGGAGACAAGGTCTCAGTCTATCACTCAAGCTGGAGTACGGTATTGTGATGACAGCTCACTGCAGCCTCGACCTCTGGGCCCAAGCGATCCTCCCACCTCAGCCTCCGAAGTAGCTGGGACCACTGGCATGTGCCACCATGCCCAGATAGTTTTTGTTTTTGTTTCTGTTTTGTAGAGAGAGGGTCTCCCTATATTGTCCAGGCTGGTCTCGAACTCCTAGGCTCAAGCAATCCTCCCACCTCAGCCTTCCAAAGTGTTGGGATTACAGGCATGAGTCACTGTGCCCAGCCATGAACTACATCTTGCAAATAGATATATTTAGGTGACACAGATTAAGAGAGGCCACTAAAGGAGACTAAAGAGTGTAGTAAGTAAATAAGGAGAAAACAGAGAAAGAGAATTACAGTAGGTGGGTGATAAACAGCAAAATTAAAGCAGACTTTAAAGAAGAGCATTTGGGGAACACTGATGCATGTTTCTCTGCTTCTCCATCTCCTTGCCACTGAAATCCCTCTAAAATGTGCCTCTAAAAGATCTTGTATAGGTCTTTGAGAAGGCACAAAACCTTAAGGAGAAAGAGATCACAGCAGTCTTCAGAAGCCAAAACTAGGAAGGTTCGCATATTGAAAAAAGCTCAAAAGTGCCTACACTGCAGAAAACCAAGAAAGAAACCAGTTTATTGAGCAGAACCAAGCAAAGGCTTAGGAATTCTATGCTTACCTCACAAGCTAGACTATAAATGTGTTATGGGAGAGAACAGGGTGCAGGTGTGCTTAGTTCTGCCCTAGCTGAGAAGATTCAGAGGAAGTGATACGGGAGTTGGTCCTTAAAAAAAGCAAAGGACTTTCCAGGCAGAGGGAAAAGAGATGAGAGAGTGCAAAGCATGGTTAGCAAGTAGCAAATAATACAGAGAGAGTAGATCTGTATTTTTAAAAGATACTCTGGAGATAATGTGAAAATAGCTTAGAAGCCTGCACTAGGTAGAGGCTTCTACCACATCACTCAGAGAGCAGTAGTATAGAGTCACCACATCACTCAGAGAGCAGTAGTATAGAGTGGTTCTGAAAATAGAAGGAGTGAGCGAAAGAAGCTGTTTGTCCCCT | AGTTACTTGCATTTTTATGTCATTTTCTATGTATTGCAAAATTGCTTTCCAGAAATTTGTGCTAAGTTGCACTGGTGATTTTTTTTTAAGCCAGTATAAGATATGAAACACTAATTAAAGGTGAACTTAGCACATTGTGGTTTATGTGAACAAGAAGGAGGCAATGTGGTATAGTAGATAAACTATAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTTTGTTGCCGAAGCTGGAGTGCAGGGGCATGATCTTGGCTCACTGTAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTACCTCAGCCTCCCGAGTAGCTAGGATCACAAGCACACAACACCACACTGGCTAATTTTTGTATTTTTAGTAAAGACAGGATTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACGTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGTTACCACACCTAGCCTTGTATTTCAGCACTTAATTACCTGGACAATCACAGGCAAGTGATTTAACCTTCCTGCACCTCAGTTTCCAGCCCAATAGAATGAGGCTAACTCTTGCTTTGTAAAGTCAGTGTGGGGATGAGCTACAATGAATATAAAGAGTCTGGCAGGGTGCCTGGCATATTGTTAAATACATAGTAGCCAGTAATGTTATTTAACTGTATCTCTACTCATCTAGAGGGAAATCATCATTACAGATGAAGGAAAATGTTGGATAAAAATAATTTGTCTTTTTCTTTTGTTTCTAGGTTTTTGATGTAACTAAAACTCCTCCTATCAAAGCCCTACAACTCTGTACTCTTCTCCCATATTATTCAGCTCGAGTACTTGTTTGTGGAGGGGATGGGACTGTAGGGTGGGTCCTGGATGCAGTTGATGACATGAAGATTAAGGTATTAGTCTTTAAGAACTACTACAGAAGGACTTCTAAGATAAATATACTATACATATATATATATATATGGGTTTTGTTGTTGTTTTGTTGTTGTTGTTGTTTTTTCTTGAGATACAGTCTCGCACTGTCACCCAGGCTGGAGTGCAGCGGCGCAGACACAGCTAACTGCAACCTCCATTTCTCAGGTTCAAGCCATCCTCCCACCTCAGCCTACAAAGTTGCTGAGACTATAGGTGTGCGCTACCATGCCTGGCTAATTTTTGTATTTTTTGTAGAGACAGGGTTTCACCATGTTGCCTGGGCTGCTGTCAAACTCCTGGGCTCAAGCGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACATGGGTGAGCCACTATGCCCAACCTAATATAGAATATTTTTGCTTTATATTTTTTATTATGCAGATGAATATTAGACATTGCCAGCTTCAAATAGTTAAAAATGAGATGTTTTGATTAAGCAATTAGCACAAGCTTTAGCAAAACAACATACAGTTGTTATATTTGTATCCTTACTGTTTTGGTCTTATTAAATTTTACAAAATATTATTACCCAGCAAATAGTCTGAGAGAAAAATCTAAAACATATCTTCCATATTCTAGGGACAAGAAAAGTACATTCCACAAGTTGCAGTTTTGCCTCTGGGAACAGGCAACGATCTATCCAATACATTGGGTTGGGGTACAGGTTATGCTGGAGAAATTCCAGTTGCGCAGGTTTTGCGAAATGTAATGGAAGCAGATGGAATTAAACTAGATCGGTAAGTTACGTTTCCCCAAAAAGTAGATTTCTTGAGATTTAGCCATAATTGGTTAACAAGTGAAGACTTGTGTAGATGAAATGTGCCATGTAATTTAAATGTGAAAGACTATACTAGTTGTACCTACACAGATACTGGTGTTTTGTTTTATTATGTAAGAGCCGAAGTAATAAGTTACACTGAGTACTTATCCCTAAATTTGCATGCTCATATACGTGTGGTTACTTTTGTAGATGGTATTTTAATAGAAAACCCTCATTTATCCAAACATCCAGAGTATGGGGTTTATTGTAAAACGTGCTGTTTTTTTTAACTTCTGTTTTTTAGATGGAAAGTTCAAGTAACAAAGGATACTACAACTTAAGAAAACCCAAGGTATGTTGTTAGTGCCTCAGTTGCAAGTGGTTTCAGCTTCATTGCACAAGATACGGCACTCTGTGGTGGGATACAGAGACCTGGTGCTTATCTCAAGGGAGCTGGCTGTGGAGCAGAACAGAAGCTTATATGCTTACCTCACAAGCTGGACTGTAAATGTGTTATGGGAGAGAACAGGGTGCAGGTATGCTTAGTTCTGCCCTAGCTGAGAAGATTCAGAGGAAGTGGTACGGGAGTTGGTCCTTAAAAAAGCAAAGGACTTTCCAGGCAGAGGGAAAAGAGGTGAGAGAGTGCAAAGCATGGTTAGCAAGTAGCAAATAATACAGAGAGAGTAGATCTGTATTTTTAAAAGATACTCTGGAGATAATGTGAAAATAGCTCAGAAGCCTGCACTAGGTAGAATCAGGATGAGGACAATGCAAAGACATTTTAGAGGTAGAATTAATCAATACTTGACAACTGATTAGTATAAAGGGGAGAGAGAAAATACATATTACTATTAGATTTCTGGTTTTTATAACTGAATATATGGAAATGACTATAAGAAAAATACCAAGTTTCAGGTTTGGGTAGGAAGAAAATGAGATAGATATTGGGCATATCAATCTAAAAGTTTTCGTAGTGTTAAACAAGAAGTTGGACGTTTAGGCTTATTGCTCAGGAATAAAGACAGAGCTAGAGATGCAGATTGAGGAATCTAGACTGGGTTAGGAAGTAAAATAAACTGGGGAGGGGGCAGGGGGAGTAGCCCAAGTTGTGGGATTCACATCCCTATTTATCAGCCTTTGAACTGAAGCCTTATTTCTGATAATTGTTTAAATGCTGAGAATGCATAAGAGAATGTGGGGAGTGAGAGGGGAAAAGAGGGCCAAGAACTACATCTTTTCTTTTTTTTTTTTTCTTTTGTTGTGGAGACAAGGTCTCAGTCTATCACTCAAGCTGGAGTACGGTATTGTGATGACAGCTCACTGCAGCCTCGACCTCTGGGCCCAAGCGATCCTCCCACCTCAGCCTCCGAAGTAGCTGGGACCACTGGCATGTGCCACCATGCCCAGATAGTTTTTGTTTTTGTTTCTGTTTTGTAGAGAGAGGGTCTCCCTATATTGTCCAGGCTGGTCTCGAACTCCTAGGCTCAAGCAATCCTCCCACCTCAGCCTTCCAAAGTGTTGGGATTACAGGCATGAGTCACTGTGCCCAGCCATGAACTACATCTTGCAAATAGATATATTTAGGTGACACAGATTAAGAGAGGCCACTAAAGGAGACTAAAGAGTGTAGTAAGTAAATAAGGAGAAAACAGAGAAAGAGAATTACAGTAGGTGGGTGATAAACAGCAAAATTAAAGCAGACTTTAAAGAAGAGCATTTGGGGAACACTGATGCATGTTTCTCTGCTTCTCCATCTCCTTGCCACTGAAATCCCTCTAAAATGTGCCTCTAAAAGATCTTGTATAGGTCTTTGAGAAGGCACAAAACCTTAAGGAGAAAGAGATCACAGCAGTCTTCAGAAGCCAAAACTAGGAAGGTTCGCATATTGAAAAAAGCTCAAAAGTGCCTACACTGCAGAAAACCAAGAAAGAAACCAGTTTATTGAGCAGAACCAAGCAAAGGCTTAGGAATTCTATGCTTACCTCACAAGCTAGACTATAAATGTGTTATGGGAGAGAACAGGGTGCAGGTGTGCTTAGTTCTGCCCTAGCTGAGAAGATTCAGAGGAAGTGATACGGGAGTTGGTCCTTAAAAAAAGCAAAGGACTTTCCAGGCAGAGGGAAAAGAGATGAGAGAGTGCAAAGCATGGTTAGCAAGTAGCAAATAATACAGAGAGAGTAGATCTGTATTTTTAAAAGATACTCTGGAGATAATGTGAAAATAGCTTAGAAGCCTGCACTAGGTAGAGGCTTCTACCACATCACTCAGAGAGCAGTAGTATAGAGTCACCACATCACTCAGAGAGCAGTAGTATAGAGTGGTTCTGAAAATAGAAGGAGTGAGCGAAAGAAGCTGTTTGTCCCCTNNNN | pathogenic | 279,304 |
Mutation at chromosome 17, position 56862167, within DGKE (diacylglycerol kinase epsilon): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['DGKE-related_disorder', 'Immunoglobulin-mediated_membranoproliferative_glomerulonephritis'] | TTTTTAATTATACAGAAATAAAATAAATTTTATTTATATACCTACAAAATAGTCATTGTCCTCGATACTGGAGGTAGACAGTGATAAATCCCTTGCTCTACATTTACAGTCTAGGGTGAAGAAAGATATTTAAGCCAGTCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATTGCTTGAGGCAAGGAGACTAGCCTGGGCAACATAGTGAGACTCCACTTTTATAAAAAATAAAAATAGCTGAGCATAGTGGCATGTACCTGTGGTCCTAGCTGCTCAGGAGGCTGAGGGAGGCAGATCACTTGAACCCAGCAGGCAGAGGCTACAGTAAGCCATGATTGTACCACTGCACACCAGTCTGGGTGACAGATTGAGACCCTGTCTCCAAGAAGAAACCAAAAAGATATTTAAATCACATTGCAATGCAGTATGAGAAGTTATATAAGAAAAGCATGTGGTCTTACAGGAATAAATAACTGCAATACGTAACCTAGGAGCTACAGAGACTAGGGAAAGTGGCAGTATAAGCAAGTCTTTCTGGAAGAAGTGACAAGCTGGAATCTGAAAATAAGTAAGAGTTAGCTAAGAGAAGGAGGAGGGGAAGATTGCTGTAGGCTAAAAACAGCATCTGCAAAAGACCCAGAGGCATACATGGCATATTTGAGTGAGTTCAGGCTGGAGCATAGCTTTCAGGAAGGAAAGACAAGCGCTGAGGCTAGAGAGATGGACAGAAGTCAAATCACAGAGTGTCATATTTGCCTGGTATTGGATCTTGTATTTCATCATGGGCATTGAAGGGTTAAAGTGAAGCCACTGAAGGGTGGTAATTAGAGGATGACATATTTGCATTTTTTAAGTGTCGATCCAACCGCTCTGTGAGGGATGCATAAGAAAGTAAAGCTAGAGGCAGATAGGCCAGATAGAAACATTTTAGGGAAGAAATGGTGAAGAGAGAGAAAGACATAGAAATAGCATCAACAGTTTTTAGTGATTAAGGGGATGTGGAGGGTAAAAAGTCAAAGAAATCAAAGATAACTGCCAGGTTTCTGGCTTAAACACCTGGGTTGGGGGTGAGTTAACCTACTTAACCAGGAAAGAGTAAGTAAGAGTTAGCTAAGAGAAGGAGGAGGGGAAGATGTTACTCTTTCCTGGTAAGTACATTGGGGAACAGGGAGCAAATTGCAGAAAAGTTGCTTGATCAATTTTTTACATAAGAGTTTTTGGTGCCAGTCCATGGACATGTTTTATGGGCAGTGGATAGATGGATCTGGCCCAGTTTACTTTCCTGAGAAGGAACATCCAGGGAAGTAGAGTCTGTGGTTCCCAGGAAGCAAAGGGAAAGAAGATTTTAGGAAAAGAGGAAGGGGGTCAGCAAGTGTCAGGTGCTACTGAAACAGCAAGTTAGGTAAGTCCTGAAAAAATCACGAGGCTCAACAAAAAGAACATTATTGTTGATGTTGATAGAAGCAGTTCTACTGAAGAGATAGAAAAGGGCAGATGAGAGGCCCTGAGTGAGAGGTAGGGAGCATCTTCTACATGTGCATCTCTCATATATAAGCACATTTATGAAAATAGATGTGAATTCTAAATGGATGTGTGTGGAAATTGTGTATCCTGTAGTCACTATCTATTTGTATTTCTTTAAAGCTAGAACTGGATGGTGAGCGAGTAGCACTGCCCAGCTTGGAAGGTATTATAGTTCTGAACATCGGATACTGGGGCGGTGGCTGCAGACTATGGGAAGGGATGGGGGACGAGACTTACCCTCTAGCCAGGTATGTACATTTGTGGTCTGTTTTTTTATGTCACTATTTTATTTAAAGCAATCTCTTGTTTATAGACTTTAACATTTTTCCTCAAATTTTCTTTTTTGTGTATCTCATTAGTTATAAATATTTTTTAAGTTGATGGTCCAACTGTGTTAAAAAGTAATTGCTCTAGCATAACTGATTTTTTATTGCATCATATAATCCATATTTTCTTTTTCCAATTTTAGGCATGACGATGGTCTGCTGGAAGTCGTTGGAGTATATGGGTCTTTCCACTGTGCTCAGATTCAAGTAAAACTGGCTAATCCTTTTCGAATAGGACAGGCACATACAGTGAGGGTAGGTGAAATATAGCTGTAACAGGCTAATTTGTCCCAATCCAATTCTAAGCTGTTGATATGTAAAATATACATGCTATACTTTTCTTTAAACAGTGGTTTATGGCTCATGCAGCTGGTCACTGTACACTAGCGGCTAGAGTGGGATGAGGAAGAAACAGAAACATGGCTCAAGATCCATGAGATAAAACGTTCACTTGAAAAAAGAATTCCTTAATCAATGAATAAAAACATATTCAGATTAATATTTTCTAAAAATGAAATGCATAAGGGTTAAGGGATTGTGGATGGTATTATTAAGGAAGACCTTTCTAAATTTGGGGGGACTGACTTTTAAACATTATTTGTTCCCTAATATCAGCTGATTTTGAAGTGCTCCATGATGCCAATGCAGGTGGATGGGGAGCCTTGGGCCCAAGGGCCCTGCACTGTCACCATAACTCACAAGACACATGCAATGATGTTATATTTCTCTGGAGAACAAACAGATGATGACATCTCTAGTACTTCGGATCAAGAAGATATAAAGGCGACTGAATAGATGGATGAGGGAGTGAAAACTTTGCATAGAATCCTCACGCAAGTAGATACATGTTCATCCAAAAGTATTAATAGAAATTCTCTATCAGCTATTCAGTCTTAATTTCACTAGTAGTATAATGGGTATACATTTTTGTAAATAGCATCCCCAAACCAGCCAGCCTTCAGTTATTTACAAATGTTTGTTCTTTTTTCAGCAAAATACTTCAAATGAATAGTATTAACTTACAAAAAGTCACAAAAACTTACATGAGAGTGAAAATTTGTTATGACTGTTTTGAGAGTGGGACTCACTCTGAAGTATGTGCTGTCTCATGTCTTATTTTTGAACCATGCATATGATGGACACACAATGGATGGACACATTATATCTCCAACAAGGTGTGGGTGGAAAGATCAAATTAACCTGCTTTTTTGAAAGGAAATGATTACTGTCAAACCAGCATGGTTAATTGTGAGCATCCTCCTGCAGCATGCCCCTTAAGATTTTCTACAACCCAAACCAAGTGTATGTATTGATTTCTAGGAACCCCCAAAAGGAGAATAGTAAAAAAAGATCATACTTAAAATTTGTATTACAATTTTTATTTTAGGAACTTATTCAGACACGTAAATGTTGTTTAATTCTGTAGGTAACCATTTGAGCTGCAATTCAGGATCTTTTTTATAACACCAGTGTAGCCAAAAGAGAAACAGATAAGTGAATTGGTAAGAAATAAGATTCAGAGCACTTGGGATTGTAAGTTATAGGTTCTGAGCTGAACTGTTTATCAGCCGCTCTTTTTATTAAAAGACAGTGTCAACACTTCAAAAAACGTGCTTAAAGGAGACAACGGTGAGATTAATTGCTTAGAAAAAGCTCAAGGCTGACTGATAAGTTTTAAAAATTTGGTGGTCTTGTAGTATTTTGAAATACAGTAGTCTTTTAACAGAATTTCCCCTTAGGGAGGTAAGTGGACAGAAATCTTTGCTAAAATGTTTATATCATATTTATTTTAAAATGAGAGAGATATATTTTTAAATTATTTATTATTTACCTTGTGGTATGGTACCTGTGTTTAGTGTTTACGTTCTGTAGCTTTATTTAATAAGTTAAATTGATCACATAAATTCTGCTAGTCACAATCAGATAGAAATTTAGTCTATTAATTAAAATTCTAATTTAATTCTCCTGACAGAAATCTAGATATTCTTATTCTTCACAAATATTCCTCATTGTATTGAAAAATGAAGGAGGGCATGAAAAGCACTAGGGAACTACTTTTGGATAACTGAAAGCTTTGTTTCATTGTTTTATTTGCCCCTCAATTGCCACAAACTTACTGAAGGGCTAGTTTCATGGTTCCCATTAGAGGGTGCTTGTTCGCTGCTGTTGACCAGCCCAAGGGTCGTGACCCACAGGTCGGCTGACCCAGAGGGCATCC | TTTTTAATTATACAGAAATAAAATAAATTTTATTTATATACCTACAAAATAGTCATTGTCCTCGATACTGGAGGTAGACAGTGATAAATCCCTTGCTCTACATTTACAGTCTAGGGTGAAGAAAGATATTTAAGCCAGTCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATTGCTTGAGGCAAGGAGACTAGCCTGGGCAACATAGTGAGACTCCACTTTTATAAAAAATAAAAATAGCTGAGCATAGTGGCATGTACCTGTGGTCCTAGCTGCTCAGGAGGCTGAGGGAGGCAGATCACTTGAACCCAGCAGGCAGAGGCTACAGTAAGCCATGATTGTACCACTGCACACCAGTCTGGGTGACAGATTGAGACCCTGTCTCCAAGAAGAAACCAAAAAGATATTTAAATCACATTGCAATGCAGTATGAGAAGTTATATAAGAAAAGCATGTGGTCTTACAGGAATAAATAACTGCAATACGTAACCTAGGAGCTACAGAGACTAGGGAAAGTGGCAGTATAAGCAAGTCTTTCTGGAAGAAGTGACAAGCTGGAATCTGAAAATAAGTAAGAGTTAGCTAAGAGAAGGAGGAGGGGAAGATTGCTGTAGGCTAAAAACAGCATCTGCAAAAGACCCAGAGGCATACATGGCATATTTGAGTGAGTTCAGGCTGGAGCATAGCTTTCAGGAAGGAAAGACAAGCGCTGAGGCTAGAGAGATGGACAGAAGTCAAATCACAGAGTGTCATATTTGCCTGGTATTGGATCTTGTATTTCATCATGGGCATTGAAGGGTTAAAGTGAAGCCACTGAAGGGTGGTAATTAGAGGATGACATATTTGCATTTTTTAAGTGTCGATCCAACCGCTCTGTGAGGGATGCATAAGAAAGTAAAGCTAGAGGCAGATAGGCCAGATAGAAACATTTTAGGGAAGAAATGGTGAAGAGAGAGAAAGACATAGAAATAGCATCAACAGTTTTTAGTGATTAAGGGGATGTGGAGGGTAAAAAGTCAAAGAAATCAAAGATAACTGCCAGGTTTCTGGCTTAAACACCTGGGTTGGGGGTGAGTTAACCTACTTAACCAGGAAAGAGTAAGTAAGAGTTAGCTAAGAGAAGGAGGAGGGGAAGATGTTACTCTTTCCTGGTAAGTACATTGGGGAACAGGGAGCAAATTGCAGAAAAGTTGCTTGATCAATTTTTTACATAAGAGTTTTTGGTGCCAGTCCATGGACATGTTTTATGGGCAGTGGATAGATGGATCTGGCCCAGTTTACTTTCCTGAGAAGGAACATCCAGGGAAGTAGAGTCTGTGGTTCCCAGGAAGCAAAGGGAAAGAAGATTTTAGGAAAAGAGGAAGGGGGTCAGCAAGTGTCAGGTGCTACTGAAACAGCAAGTTAGGTAAGTCCTGAAAAAATCACGAGGCTCAACAAAAAGAACATTATTGTTGATGTTGATAGAAGCAGTTCTACTGAAGAGATAGAAAAGGGCAGATGAGAGGCCCTGAGTGAGAGGTAGGGAGCATCTTCTACATGTGCATCTCTCATATATAAGCACATTTATGAAAATAGATGTGAATTCTAAATGGATGTGTGTGGAAATTGTGTATCCTGTAGTCACTATCTATTTGTATTTCTTTAAAGCTAGAACTGGATGGTGAGCGAGTAGCACTGCCCAGCTTGGAAGGTATTATAGTTCTGAACATCGGATACTGGGGCGGTGGCTGCAGACTATGGGAAGGGATGGGGGACGAGACTTACCCTCTAGCCAGGTATGTACATTTGTGGTCTGTTTTTTTATGTCACTATTTTATTTAAAGCAATCTCTTGTTTATAGACTTTAACATTTTTCCTCAAATTTTCTTTTTTGTGTATCTCATTAGTTATAAATATTTTTTAAGTTGATGGTCCAACTGTGTTAAAAAGTAATTGCTCTAGCATAACTGATTTTTTATTGCATCATATAATCCATATTTTCTTTTTCCAATTTTAGGCATGACGATGGTCTGCTGGAAGTCGTTGGGAGTATATGGGTCTTTCCACTGTGCTCAGATTCAAGTAAAACTGGCTAATCCTTTTCGAATAGGACAGGCACATACAGTGAGGGTAGGTGAAATATAGCTGTAACAGGCTAATTTGTCCCAATCCAATTCTAAGCTGTTGATATGTAAAATATACATGCTATACTTTTCTTTAAACAGTGGTTTATGGCTCATGCAGCTGGTCACTGTACACTAGCGGCTAGAGTGGGATGAGGAAGAAACAGAAACATGGCTCAAGATCCATGAGATAAAACGTTCACTTGAAAAAAGAATTCCTTAATCAATGAATAAAAACATATTCAGATTAATATTTTCTAAAAATGAAATGCATAAGGGTTAAGGGATTGTGGATGGTATTATTAAGGAAGACCTTTCTAAATTTGGGGGGACTGACTTTTAAACATTATTTGTTCCCTAATATCAGCTGATTTTGAAGTGCTCCATGATGCCAATGCAGGTGGATGGGGAGCCTTGGGCCCAAGGGCCCTGCACTGTCACCATAACTCACAAGACACATGCAATGATGTTATATTTCTCTGGAGAACAAACAGATGATGACATCTCTAGTACTTCGGATCAAGAAGATATAAAGGCGACTGAATAGATGGATGAGGGAGTGAAAACTTTGCATAGAATCCTCACGCAAGTAGATACATGTTCATCCAAAAGTATTAATAGAAATTCTCTATCAGCTATTCAGTCTTAATTTCACTAGTAGTATAATGGGTATACATTTTTGTAAATAGCATCCCCAAACCAGCCAGCCTTCAGTTATTTACAAATGTTTGTTCTTTTTTCAGCAAAATACTTCAAATGAATAGTATTAACTTACAAAAAGTCACAAAAACTTACATGAGAGTGAAAATTTGTTATGACTGTTTTGAGAGTGGGACTCACTCTGAAGTATGTGCTGTCTCATGTCTTATTTTTGAACCATGCATATGATGGACACACAATGGATGGACACATTATATCTCCAACAAGGTGTGGGTGGAAAGATCAAATTAACCTGCTTTTTTGAAAGGAAATGATTACTGTCAAACCAGCATGGTTAATTGTGAGCATCCTCCTGCAGCATGCCCCTTAAGATTTTCTACAACCCAAACCAAGTGTATGTATTGATTTCTAGGAACCCCCAAAAGGAGAATAGTAAAAAAAGATCATACTTAAAATTTGTATTACAATTTTTATTTTAGGAACTTATTCAGACACGTAAATGTTGTTTAATTCTGTAGGTAACCATTTGAGCTGCAATTCAGGATCTTTTTTATAACACCAGTGTAGCCAAAAGAGAAACAGATAAGTGAATTGGTAAGAAATAAGATTCAGAGCACTTGGGATTGTAAGTTATAGGTTCTGAGCTGAACTGTTTATCAGCCGCTCTTTTTATTAAAAGACAGTGTCAACACTTCAAAAAACGTGCTTAAAGGAGACAACGGTGAGATTAATTGCTTAGAAAAAGCTCAAGGCTGACTGATAAGTTTTAAAAATTTGGTGGTCTTGTAGTATTTTGAAATACAGTAGTCTTTTAACAGAATTTCCCCTTAGGGAGGTAAGTGGACAGAAATCTTTGCTAAAATGTTTATATCATATTTATTTTAAAATGAGAGAGATATATTTTTAAATTATTTATTATTTACCTTGTGGTATGGTACCTGTGTTTAGTGTTTACGTTCTGTAGCTTTATTTAATAAGTTAAATTGATCACATAAATTCTGCTAGTCACAATCAGATAGAAATTTAGTCTATTAATTAAAATTCTAATTTAATTCTCCTGACAGAAATCTAGATATTCTTATTCTTCACAAATATTCCTCATTGTATTGAAAAATGAAGGAGGGCATGAAAAGCACTAGGGAACTACTTTTGGATAACTGAAAGCTTTGTTTCATTGTTTTATTTGCCCCTCAATTGCCACAAACTTACTGAAGGGCTAGTTTCATGGTTCCCATTAGAGGGTGCTTGTTCGCTGCTGTTGACCAGCCCAAGGGTCGTGACCCACAGGTCGGCTGACCCAGAGGGCATC | pathogenic | 279,308 |
Regarding the variant found on chromosome 17 at position 58206040 in gene MKS1 (MKS transition zone complex subunit 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | TTGGTATTGCCCGAGTTCAAATCCAGCCCTGGCCACTTAAATTACTGTGCACTTAATACTGGGCAATTTATTTGGCCACTGAATTTGTTTCATTTCTGAGATTCCAATCTTGCAGGAATTTTGTGAGAATTGAATGGAATAATATATGTAAAGTACCTGGCACACAACAGGTGCTCATTATAAGGTAATTCCTCCCCAGCCTTCACCCACATCTCTCGACTGCCTGGTAGGTTCTGGTGGCAGAAACGAGGTGTTTTCACCAAAAGACAGCGCAAGGCCCTGAGCAGAATTTCCTTGTCTCGAATTATATGTGACAATACCGGTATCACCACGGTTTCAAGGGACATCTTCAGAGCCAACATCTACCCTCGGGGCTTTGTGAACTGCAGCCGTATCCCCAGGTTGAACCTATCAGCCTGGCGAGGGACATGAGGCTTCTGCAGGTAAGGGGAGGCCACCTCCAGCACCCTGGGCTGGGTTAAGCCCTCACATCCTTCCCTGGATGGATGGCTGAGTCCTCTTAGGTCTCTAAGCAGAGAAAACAGAACTTGTCACTAGGTACTCTTTCCAAGTGGCTTCCCAATGTGCTAGTTTCTGGGCTGACAGTCAATTCCAGGCCCTAGGACTTTGGGGGGAAATTAGGAGCATCCAACTATCCTCAGCTTGGTCACTAATACCTGAAAACAGCTCCATTTCTAAACATCCAGTAAATTCCTGACTTATCCAGTTCTGTTACTTCCACAGGAGTCTATCCCAAGTCTCCAACTTTTGGAGACAAGGGGAAGGGGAGGACCATGAGGCTGCCTTGTCTCCCTGGAGCAAGTGCAGGCTGCTGACGCTTCTGCTGGCTACAGCTCAGAGCTGGGTTCCCCAGCCAGGAGTGAAGGCTGGGGGCTCCTATCAGCAATGGACCTTCCCGCCTTGGGAGCCTCTTAGGTATTAGGCTATGAATCAGCGCCACGTGCAAAGGCTTGGGAGCCAAGCCATGTGGTCTTGCACCCCAGGCAAGAAAAGTCAGCTGGAGGGTTTACAGCACTTTCTACTGTTTCCCAGCCCTCCCTCCCCTCCCTCACCATGACTAAGAGACCACTCGGTCCTAGCCTCCAGACACCCCACAATACTCCTCTGAGCCTGAGGCCAGGCAGCATGCTCTGCTTCTACCAATAAAGCACTGCTAAGGGCAGGGGCTGCTGTTTCTGTGTTGGGCTAGGGAAGACGTGGCCTCAGTTCCATGCTTTGCTCCAGATGTTTAAGAGAAGTGCTGTTAACACGCAAGCTGGCACAACCATCTAAGCCTCTCCTGGGGGCTGAATTAGGAGAGCCCAAAGAAACACTGTGGAGTAGGGAAAGGCAGAAAAGGGGAAGGGCAGACATGGTAGGGGCCCCGACATTAAGAACACCCTAGCCATACCAGCAACCTGAGCAGACAAACAGCCAACAGAACATCAGTCAAAATAAAAGGGGTTTATGTAACAAAAAACAAAAAAACAAACAAACAAAAAAACACAGTAAAAGATACCACCCAGCTAGCAGAAAGGACTCAGCACTGCCTTCAGCCTTCACTTACTCAGAAATAACTCATATCTCAACCTCAGCAAGCCCCAAGCAGTAGAATGAGGCTTCCCTGGAAAGAGGCTGAGACTCACAGGCTGGGGATTTAAGACCCTCTCACCGTCCACCTTCCTTCCTTCTTTGGTCTTGGAAGATGAAAGGCTCCATTTTTAAAGGGTGGAGAACAGCAGATCCCCTGCTACTGTGAGACAAGCCAGAAAAGTGAGTCAAGGCCAGACTCACTATGGGGTCACCCCAAACAGCTTCAGATCAAAAAGCCTGCCTTGCTGTGATGCCCATTGACAGTGGCTGCAAATATAAAGGGGGGGCCACAGGGTCTCTGGCTTTATTTCCACAGGGTAGGGAGAAGACCCTGCAGAAGGCTAGGCAGAGGGGCCAGCCGGGAATTTCCCAGCTTTTCTGGTTCTCAGCAGACCAACGTGGTCTCTAATCAGAAAGACGAAGAGGCAGGAGAGCACTGGCCTCAGATATCCCCCATCTTGTCCTCTTGCACTGTGGGCCAGGGCTGCTGTGAGCTAGGAGACCAGGGTTCCAGAGGGGCTCACTAGGTCCTGCGGGAGGCTTTCCCGGGCCTCCTGCATGCGGCGCCGGGCTCGACGGAAGGCCTCTGTAAGGAAAGGAGATATGCTATTTGGCTGCCATATGGTATTTCTCTCTGCACTGCAGAGAGAAACAGGCCCATGCTGACCTGGGGTGGCCAGCTGGGGGAGGGGACATACCTAGCACATTGTGAATGGAACTCTGCTGGCTGAACCCTTCCAGACGGTCCAACACACTCCGCATCCTTTTCTGAAGGGAGCTCGATTCCATGAAGGCCCTGCAGGGAGGCCAGCCACATGGTTACGGCTGTCTCCACCCCTCAGGGCTAAGGTGCCCTGAGGCAGAGGGCCAAGTCACTCACCTGGACTGCTGCAGACAGTGCAAGCGGAAGGTGACAGTGCCTGTGGTCTCTGTGCGGAGTCCAAAGCGGCTCAGGCGTTCCCCCTGTGGCATGCCATTGGGACAGCCTCAGGTTTCTGCTCTCTCTAGACACCCCCGCACCATGCTGGCCTCACCCCCATTCTTATTCCCATTCTTGGGAAGCGCAGTTCTGTTGGGGAAACCTTATTCCATCACCCAGACTCTATTACCTCAAGGCTAATACTGGGCTATTGGGCTCCCCCAACTAAACCAGGGAACATTCCAACCTCATTTGAGAAGCGGCGGTCTTATATGCTTACTGTGAATCCTCCCCACATCTGATTACTGAGGCCTTCAGTGATGGGGGAAAGAGCCAGTTATTCTGATGGGAACCAGGGGAAATCTCTAATTATACTATTTTCCAGAGACCTCCTACGATAGCAGTGTAGATATTGGAACCTGATTCAAAATGTGGTCATGACTTCCAGCTTAAGCCACAGGAAGGAAGGGGTTAATACTGAAGCAATGCACAACTAAGGGGTCTTGACCCAGATCCCACCTCCTACAGAAGGACAGGACCATAAGTTCTCAGCGTGAAGTCACTCCAAAGACAAAAGTCACCTTGAAGGATCCTGGTATCCGTACATAGGAGAGGTCCTCCAGTTCCAGAGAACCGCCAATGAAAAACCTCCTCAGCTCAGCCACCGTGCCAAGCTCCACAGGTCTCCACGTGGAGACTGTCAGGGTGTGTGAGCCTGCGCAAGGGAAGAGAAGACTGGGGCCAGGTCCAGAAAGGGCATGTGGCCCCTCACTGACTCCCCAGCAATGACACAGGCCTAGACTCAGCTAAAACACCTGGTCTGGTGATGACCTGGCCTCTGGTGCAGGTTATCATGGTTACCCATAGCACCTGTATGGAAATCAATCAGGGAGAAATTCAAATTTCCGCTCTGCCAGTTATTACCTGCATACCCAGGACAGGTTTCTTAACCTCTCTGAAGCTCATTCTCCTCATCTAGTAAAATGGAAATAATACCACCTGCACCTCACAGAGTGACTGGGAGAATTAAGTGAGAAGTATGGCACAATGCCTGGCACACAGTAAAAGACAGATGCTTTTATTCCAAACTGAATGCTGATTCATTCAATACACATATGCTATGAGCCAATTTTGCCATACAGCTTCTCACCCTGAGTCCAATCAGAGGAGCATGAAGCACATGGAGAGACTGTCAGGAAGTCAGTGCCAAGGCCACGTCATTGTCGCTAATGGAGGGGGGCAGAAAGTCCTCAGAGGAACAGGAACTCTTTCAAGCCAAACATTTCCAATTCCCAATTATCTCCACCCCTCACCAGAAGCATTCGAGTGTTAGTCTTGTTCTTAGGGCCTAGGGCATGTGGGCCACAGAAGGGCAGAGACGAGCGGTTACCTGGAGTGGCAGGCAGCACCACAGCCCCATAGCCTTCCACACGGTACCTCTGCCAGAAGTCCAGCGAGAGGACCTCACAGTAGAGCACAGGCCACTCCGGGAGTGCATCTGGGAGCAAGGAGAGAAGCGGCCAGGTCACAGGCGGCCTTCACCAAGAGACAGCACTGCTTGAGGGGAACCAAGGCCCAGGATCA | TTGGTATTGCCCGAGTTCAAATCCAGCCCTGGCCACTTAAATTACTGTGCACTTAATACTGGGCAATTTATTTGGCCACTGAATTTGTTTCATTTCTGAGATTCCAATCTTGCAGGAATTTTGTGAGAATTGAATGGAATAATATATGTAAAGTACCTGGCACACAACAGGTGCTCATTATAAGGTAATTCCTCCCCAGCCTTCACCCACATCTCTCGACTGCCTGGTAGGTTCTGGTGGCAGAAACGAGGTGTTTTCACCAAAAGACAGCGCAAGGCCCTGAGCAGAATTTCCTTGTCTCGAATTATATGTGACAATACCGGTATCACCACGGTTTCAAGGGACATCTTCAGAGCCAACATCTACCCTCGGGGCTTTGTGAACTGCAGCCGTATCCCCAGGTTGAACCTATCAGCCTGGCGAGGGACATGAGGCTTCTGCAGGTAAGGGGAGGCCACCTCCAGCACCCTGGGCTGGGTTAAGCCCTCACATCCTTCCCTGGATGGATGGCTGAGTCCTCTTAGGTCTCTAAGCAGAGAAAACAGAACTTGTCACTAGGTACTCTTTCCAAGTGGCTTCCCAATGTGCTAGTTTCTGGGCTGACAGTCAATTCCAGGCCCTAGGACTTTGGGGGGAAATTAGGAGCATCCAACTATCCTCAGCTTGGTCACTAATACCTGAAAACAGCTCCATTTCTAAACATCCAGTAAATTCCTGACTTATCCAGTTCTGTTACTTCCACAGGAGTCTATCCCAAGTCTCCAACTTTTGGAGACAAGGGGAAGGGGAGGACCATGAGGCTGCCTTGTCTCCCTGGAGCAAGTGCAGGCTGCTGACGCTTCTGCTGGCTACAGCTCAGAGCTGGGTTCCCCAGCCAGGAGTGAAGGCTGGGGGCTCCTATCAGCAATGGACCTTCCCGCCTTGGGAGCCTCTTAGGTATTAGGCTATGAATCAGCGCCACGTGCAAAGGCTTGGGAGCCAAGCCATGTGGTCTTGCACCCCAGGCAAGAAAAGTCAGCTGGAGGGTTTACAGCACTTTCTACTGTTTCCCAGCCCTCCCTCCCCTCCCTCACCATGACTAAGAGACCACTCGGTCCTAGCCTCCAGACACCCCACAATACTCCTCTGAGCCTGAGGCCAGGCAGCATGCTCTGCTTCTACCAATAAAGCACTGCTAAGGGCAGGGGCTGCTGTTTCTGTGTTGGGCTAGGGAAGACGTGGCCTCAGTTCCATGCTTTGCTCCAGATGTTTAAGAGAAGTGCTGTTAACACGCAAGCTGGCACAACCATCTAAGCCTCTCCTGGGGGCTGAATTAGGAGAGCCCAAAGAAACACTGTGGAGTAGGGAAAGGCAGAAAAGGGGAAGGGCAGACATGGTAGGGGCCCCGACATTAAGAACACCCTAGCCATACCAGCAACCTGAGCAGACAAACAGCCAACAGAACATCAGTCAAAATAAAAGGGGTTTATGTAACAAAAAACAAAAAAACAAACAAACAAAAAAACACAGTAAAAGATACCACCCAGCTAGCAGAAAGGACTCAGCACTGCCTTCAGCCTTCACTTACTCAGAAATAACTCATATCTCAACCTCAGCAAGCCCCAAGCAGTAGAATGAGGCTTCCCTGGAAAGAGGCTGAGACTCACAGGCTGGGGATTTAAGACCCTCTCACCGTCCACCTTCCTTCCTTCTTTGGTCTTGGAAGATGAAAGGCTCCATTTTTAAAGGGTGGAGAACAGCAGATCCCCTGCTACTGTGAGACAAGCCAGAAAAGTGAGTCAAGGCCAGACTCACTATGGGGTCACCCCAAACAGCTTCAGATCAAAAAGCCTGCCTTGCTGTGATGCCCATTGACAGTGGCTGCAAATATAAAGGGGGGGCCACAGGGTCTCTGGCTTTATTTCCACAGGGTAGGGAGAAGACCCTGCAGAAGGCTAGGCAGAGGGGCCAGCCGGGAATTTCCCAGCTTTTCTGGTTCTCAGCAGACCAACGTGGTCTCTAATCAGAAAGACGAAGAGGCAGGAGAGCACTGGCCTCAGATATCCCCCACTTGTCCTCTTGCACTGTGGGCCAGGGCTGCTGTGAGCTAGGAGACCAGGGTTCCAGAGGGGCTCACTAGGTCCTGCGGGAGGCTTTCCCGGGCCTCCTGCATGCGGCGCCGGGCTCGACGGAAGGCCTCTGTAAGGAAAGGAGATATGCTATTTGGCTGCCATATGGTATTTCTCTCTGCACTGCAGAGAGAAACAGGCCCATGCTGACCTGGGGTGGCCAGCTGGGGGAGGGGACATACCTAGCACATTGTGAATGGAACTCTGCTGGCTGAACCCTTCCAGACGGTCCAACACACTCCGCATCCTTTTCTGAAGGGAGCTCGATTCCATGAAGGCCCTGCAGGGAGGCCAGCCACATGGTTACGGCTGTCTCCACCCCTCAGGGCTAAGGTGCCCTGAGGCAGAGGGCCAAGTCACTCACCTGGACTGCTGCAGACAGTGCAAGCGGAAGGTGACAGTGCCTGTGGTCTCTGTGCGGAGTCCAAAGCGGCTCAGGCGTTCCCCCTGTGGCATGCCATTGGGACAGCCTCAGGTTTCTGCTCTCTCTAGACACCCCCGCACCATGCTGGCCTCACCCCCATTCTTATTCCCATTCTTGGGAAGCGCAGTTCTGTTGGGGAAACCTTATTCCATCACCCAGACTCTATTACCTCAAGGCTAATACTGGGCTATTGGGCTCCCCCAACTAAACCAGGGAACATTCCAACCTCATTTGAGAAGCGGCGGTCTTATATGCTTACTGTGAATCCTCCCCACATCTGATTACTGAGGCCTTCAGTGATGGGGGAAAGAGCCAGTTATTCTGATGGGAACCAGGGGAAATCTCTAATTATACTATTTTCCAGAGACCTCCTACGATAGCAGTGTAGATATTGGAACCTGATTCAAAATGTGGTCATGACTTCCAGCTTAAGCCACAGGAAGGAAGGGGTTAATACTGAAGCAATGCACAACTAAGGGGTCTTGACCCAGATCCCACCTCCTACAGAAGGACAGGACCATAAGTTCTCAGCGTGAAGTCACTCCAAAGACAAAAGTCACCTTGAAGGATCCTGGTATCCGTACATAGGAGAGGTCCTCCAGTTCCAGAGAACCGCCAATGAAAAACCTCCTCAGCTCAGCCACCGTGCCAAGCTCCACAGGTCTCCACGTGGAGACTGTCAGGGTGTGTGAGCCTGCGCAAGGGAAGAGAAGACTGGGGCCAGGTCCAGAAAGGGCATGTGGCCCCTCACTGACTCCCCAGCAATGACACAGGCCTAGACTCAGCTAAAACACCTGGTCTGGTGATGACCTGGCCTCTGGTGCAGGTTATCATGGTTACCCATAGCACCTGTATGGAAATCAATCAGGGAGAAATTCAAATTTCCGCTCTGCCAGTTATTACCTGCATACCCAGGACAGGTTTCTTAACCTCTCTGAAGCTCATTCTCCTCATCTAGTAAAATGGAAATAATACCACCTGCACCTCACAGAGTGACTGGGAGAATTAAGTGAGAAGTATGGCACAATGCCTGGCACACAGTAAAAGACAGATGCTTTTATTCCAAACTGAATGCTGATTCATTCAATACACATATGCTATGAGCCAATTTTGCCATACAGCTTCTCACCCTGAGTCCAATCAGAGGAGCATGAAGCACATGGAGAGACTGTCAGGAAGTCAGTGCCAAGGCCACGTCATTGTCGCTAATGGAGGGGGGCAGAAAGTCCTCAGAGGAACAGGAACTCTTTCAAGCCAAACATTTCCAATTCCCAATTATCTCCACCCCTCACCAGAAGCATTCGAGTGTTAGTCTTGTTCTTAGGGCCTAGGGCATGTGGGCCACAGAAGGGCAGAGACGAGCGGTTACCTGGAGTGGCAGGCAGCACCACAGCCCCATAGCCTTCCACACGGTACCTCTGCCAGAAGTCCAGCGAGAGGACCTCACAGTAGAGCACAGGCCACTCCGGGAGTGCATCTGGGAGCAAGGAGAGAAGCGGCCAGGTCACAGGCGGCCTTCACCAAGAGACAGCACTGCTTGAGGGGAACCAAGGCCCAGGATCAN | benign | 279,345 |
Variant at chromosome position 58206501, chromosome 17, gene MKS1 (MKS transition zone complex subunit 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Bardet-Biedl_syndrome_13', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_28', 'MKS1-related_disorder', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_1'] | CAGCACCCTGGGCTGGGTTAAGCCCTCACATCCTTCCCTGGATGGATGGCTGAGTCCTCTTAGGTCTCTAAGCAGAGAAAACAGAACTTGTCACTAGGTACTCTTTCCAAGTGGCTTCCCAATGTGCTAGTTTCTGGGCTGACAGTCAATTCCAGGCCCTAGGACTTTGGGGGGAAATTAGGAGCATCCAACTATCCTCAGCTTGGTCACTAATACCTGAAAACAGCTCCATTTCTAAACATCCAGTAAATTCCTGACTTATCCAGTTCTGTTACTTCCACAGGAGTCTATCCCAAGTCTCCAACTTTTGGAGACAAGGGGAAGGGGAGGACCATGAGGCTGCCTTGTCTCCCTGGAGCAAGTGCAGGCTGCTGACGCTTCTGCTGGCTACAGCTCAGAGCTGGGTTCCCCAGCCAGGAGTGAAGGCTGGGGGCTCCTATCAGCAATGGACCTTCCCGCCTTGGGAGCCTCTTAGGTATTAGGCTATGAATCAGCGCCACGTGCAAAGGCTTGGGAGCCAAGCCATGTGGTCTTGCACCCCAGGCAAGAAAAGTCAGCTGGAGGGTTTACAGCACTTTCTACTGTTTCCCAGCCCTCCCTCCCCTCCCTCACCATGACTAAGAGACCACTCGGTCCTAGCCTCCAGACACCCCACAATACTCCTCTGAGCCTGAGGCCAGGCAGCATGCTCTGCTTCTACCAATAAAGCACTGCTAAGGGCAGGGGCTGCTGTTTCTGTGTTGGGCTAGGGAAGACGTGGCCTCAGTTCCATGCTTTGCTCCAGATGTTTAAGAGAAGTGCTGTTAACACGCAAGCTGGCACAACCATCTAAGCCTCTCCTGGGGGCTGAATTAGGAGAGCCCAAAGAAACACTGTGGAGTAGGGAAAGGCAGAAAAGGGGAAGGGCAGACATGGTAGGGGCCCCGACATTAAGAACACCCTAGCCATACCAGCAACCTGAGCAGACAAACAGCCAACAGAACATCAGTCAAAATAAAAGGGGTTTATGTAACAAAAAACAAAAAAACAAACAAACAAAAAAACACAGTAAAAGATACCACCCAGCTAGCAGAAAGGACTCAGCACTGCCTTCAGCCTTCACTTACTCAGAAATAACTCATATCTCAACCTCAGCAAGCCCCAAGCAGTAGAATGAGGCTTCCCTGGAAAGAGGCTGAGACTCACAGGCTGGGGATTTAAGACCCTCTCACCGTCCACCTTCCTTCCTTCTTTGGTCTTGGAAGATGAAAGGCTCCATTTTTAAAGGGTGGAGAACAGCAGATCCCCTGCTACTGTGAGACAAGCCAGAAAAGTGAGTCAAGGCCAGACTCACTATGGGGTCACCCCAAACAGCTTCAGATCAAAAAGCCTGCCTTGCTGTGATGCCCATTGACAGTGGCTGCAAATATAAAGGGGGGGCCACAGGGTCTCTGGCTTTATTTCCACAGGGTAGGGAGAAGACCCTGCAGAAGGCTAGGCAGAGGGGCCAGCCGGGAATTTCCCAGCTTTTCTGGTTCTCAGCAGACCAACGTGGTCTCTAATCAGAAAGACGAAGAGGCAGGAGAGCACTGGCCTCAGATATCCCCCATCTTGTCCTCTTGCACTGTGGGCCAGGGCTGCTGTGAGCTAGGAGACCAGGGTTCCAGAGGGGCTCACTAGGTCCTGCGGGAGGCTTTCCCGGGCCTCCTGCATGCGGCGCCGGGCTCGACGGAAGGCCTCTGTAAGGAAAGGAGATATGCTATTTGGCTGCCATATGGTATTTCTCTCTGCACTGCAGAGAGAAACAGGCCCATGCTGACCTGGGGTGGCCAGCTGGGGGAGGGGACATACCTAGCACATTGTGAATGGAACTCTGCTGGCTGAACCCTTCCAGACGGTCCAACACACTCCGCATCCTTTTCTGAAGGGAGCTCGATTCCATGAAGGCCCTGCAGGGAGGCCAGCCACATGGTTACGGCTGTCTCCACCCCTCAGGGCTAAGGTGCCCTGAGGCAGAGGGCCAAGTCACTCACCTGGACTGCTGCAGACAGTGCAAGCGGAAGGTGACAGTGCCTGTGGTCTCTGTGCGGAGTCCAAAGCGGCTCAGGCGTTCCCCCTGTGGCATGCCATTGGGACAGCCTCAGGTTTCTGCTCTCTCTAGACACCCCCGCACCATGCTGGCCTCACCCCCATTCTTATTCCCATTCTTGGGAAGCGCAGTTCTGTTGGGGAAACCTTATTCCATCACCCAGACTCTATTACCTCAAGGCTAATACTGGGCTATTGGGCTCCCCCAACTAAACCAGGGAACATTCCAACCTCATTTGAGAAGCGGCGGTCTTATATGCTTACTGTGAATCCTCCCCACATCTGATTACTGAGGCCTTCAGTGATGGGGGAAAGAGCCAGTTATTCTGATGGGAACCAGGGGAAATCTCTAATTATACTATTTTCCAGAGACCTCCTACGATAGCAGTGTAGATATTGGAACCTGATTCAAAATGTGGTCATGACTTCCAGCTTAAGCCACAGGAAGGAAGGGGTTAATACTGAAGCAATGCACAACTAAGGGGTCTTGACCCAGATCCCACCTCCTACAGAAGGACAGGACCATAAGTTCTCAGCGTGAAGTCACTCCAAAGACAAAAGTCACCTTGAAGGATCCTGGTATCCGTACATAGGAGAGGTCCTCCAGTTCCAGAGAACCGCCAATGAAAAACCTCCTCAGCTCAGCCACCGTGCCAAGCTCCACAGGTCTCCACGTGGAGACTGTCAGGGTGTGTGAGCCTGCGCAAGGGAAGAGAAGACTGGGGCCAGGTCCAGAAAGGGCATGTGGCCCCTCACTGACTCCCCAGCAATGACACAGGCCTAGACTCAGCTAAAACACCTGGTCTGGTGATGACCTGGCCTCTGGTGCAGGTTATCATGGTTACCCATAGCACCTGTATGGAAATCAATCAGGGAGAAATTCAAATTTCCGCTCTGCCAGTTATTACCTGCATACCCAGGACAGGTTTCTTAACCTCTCTGAAGCTCATTCTCCTCATCTAGTAAAATGGAAATAATACCACCTGCACCTCACAGAGTGACTGGGAGAATTAAGTGAGAAGTATGGCACAATGCCTGGCACACAGTAAAAGACAGATGCTTTTATTCCAAACTGAATGCTGATTCATTCAATACACATATGCTATGAGCCAATTTTGCCATACAGCTTCTCACCCTGAGTCCAATCAGAGGAGCATGAAGCACATGGAGAGACTGTCAGGAAGTCAGTGCCAAGGCCACGTCATTGTCGCTAATGGAGGGGGGCAGAAAGTCCTCAGAGGAACAGGAACTCTTTCAAGCCAAACATTTCCAATTCCCAATTATCTCCACCCCTCACCAGAAGCATTCGAGTGTTAGTCTTGTTCTTAGGGCCTAGGGCATGTGGGCCACAGAAGGGCAGAGACGAGCGGTTACCTGGAGTGGCAGGCAGCACCACAGCCCCATAGCCTTCCACACGGTACCTCTGCCAGAAGTCCAGCGAGAGGACCTCACAGTAGAGCACAGGCCACTCCGGGAGTGCATCTGGGAGCAAGGAGAGAAGCGGCCAGGTCACAGGCGGCCTTCACCAAGAGACAGCACTGCTTGAGGGGAACCAAGGCCCAGGATCAACTGCTGAGCTACTCACCAGAAGATTCATCCTCATGGAGGAAGAAGGCTTCAAACGTGAATGGGTAGGAGAAGTGAGCCACCTTGTCCTATAAAAAGGAGTGTCATAGGGTGGGCAAGGCCTCCCTTGGAATCTGTTCTCCTTGTGGCCAATGACAAGGTTATCTTCACAAGGGAAAAAGAAAAATTATCACCCAGGTGGGAAATAGGAGTCTGAGATGCAAAAGGACACCCAAATACAAGCTGCTGCCATGCTCAAAAAGACAGACAGGATCTCCGGACCAGGTGGCCCTGTAGAACCCACACACAAGTCACCCAACTCTGGAATCCTCCCCAGGGCGCACAGCACTTGGCCTGATAAAACCTCAAATGCCATCCCAGGAGCAGATCTCATTCCCTTCCAGATACCCGCTCTCATTCTCCATACCATTGCCAGGGACTTGGTGGTGCAGGTCTGTGTTAC | CAGCACCCTGGGCTGGGTTAAGCCCTCACATCCTTCCCTGGATGGATGGCTGAGTCCTCTTAGGTCTCTAAGCAGAGAAAACAGAACTTGTCACTAGGTACTCTTTCCAAGTGGCTTCCCAATGTGCTAGTTTCTGGGCTGACAGTCAATTCCAGGCCCTAGGACTTTGGGGGGAAATTAGGAGCATCCAACTATCCTCAGCTTGGTCACTAATACCTGAAAACAGCTCCATTTCTAAACATCCAGTAAATTCCTGACTTATCCAGTTCTGTTACTTCCACAGGAGTCTATCCCAAGTCTCCAACTTTTGGAGACAAGGGGAAGGGGAGGACCATGAGGCTGCCTTGTCTCCCTGGAGCAAGTGCAGGCTGCTGACGCTTCTGCTGGCTACAGCTCAGAGCTGGGTTCCCCAGCCAGGAGTGAAGGCTGGGGGCTCCTATCAGCAATGGACCTTCCCGCCTTGGGAGCCTCTTAGGTATTAGGCTATGAATCAGCGCCACGTGCAAAGGCTTGGGAGCCAAGCCATGTGGTCTTGCACCCCAGGCAAGAAAAGTCAGCTGGAGGGTTTACAGCACTTTCTACTGTTTCCCAGCCCTCCCTCCCCTCCCTCACCATGACTAAGAGACCACTCGGTCCTAGCCTCCAGACACCCCACAATACTCCTCTGAGCCTGAGGCCAGGCAGCATGCTCTGCTTCTACCAATAAAGCACTGCTAAGGGCAGGGGCTGCTGTTTCTGTGTTGGGCTAGGGAAGACGTGGCCTCAGTTCCATGCTTTGCTCCAGATGTTTAAGAGAAGTGCTGTTAACACGCAAGCTGGCACAACCATCTAAGCCTCTCCTGGGGGCTGAATTAGGAGAGCCCAAAGAAACACTGTGGAGTAGGGAAAGGCAGAAAAGGGGAAGGGCAGACATGGTAGGGGCCCCGACATTAAGAACACCCTAGCCATACCAGCAACCTGAGCAGACAAACAGCCAACAGAACATCAGTCAAAATAAAAGGGGTTTATGTAACAAAAAACAAAAAAACAAACAAACAAAAAAACACAGTAAAAGATACCACCCAGCTAGCAGAAAGGACTCAGCACTGCCTTCAGCCTTCACTTACTCAGAAATAACTCATATCTCAACCTCAGCAAGCCCCAAGCAGTAGAATGAGGCTTCCCTGGAAAGAGGCTGAGACTCACAGGCTGGGGATTTAAGACCCTCTCACCGTCCACCTTCCTTCCTTCTTTGGTCTTGGAAGATGAAAGGCTCCATTTTTAAAGGGTGGAGAACAGCAGATCCCCTGCTACTGTGAGACAAGCCAGAAAAGTGAGTCAAGGCCAGACTCACTATGGGGTCACCCCAAACAGCTTCAGATCAAAAAGCCTGCCTTGCTGTGATGCCCATTGACAGTGGCTGCAAATATAAAGGGGGGGCCACAGGGTCTCTGGCTTTATTTCCACAGGGTAGGGAGAAGACCCTGCAGAAGGCTAGGCAGAGGGGCCAGCCGGGAATTTCCCAGCTTTTCTGGTTCTCAGCAGACCAACGTGGTCTCTAATCAGAAAGACGAAGAGGCAGGAGAGCACTGGCCTCAGATATCCCCCATCTTGTCCTCTTGCACTGTGGGCCAGGGCTGCTGTGAGCTAGGAGACCAGGGTTCCAGAGGGGCTCACTAGGTCCTGCGGGAGGCTTTCCCGGGCCTCCTGCATGCGGCGCCGGGCTCGACGGAAGGCCTCTGTAAGGAAAGGAGATATGCTATTTGGCTGCCATATGGTATTTCTCTCTGCACTGCAGAGAGAAACAGGCCCATGCTGACCTGGGGTGGCCAGCTGGGGGAGGGGACATACCTAGCACATTGTGAATGGAACTCTGCTGGCTGAACCCTTCCAGACGGTCCAACACACTCCGCATCCTTTTCTGAAGGGAGCTCGATTCCATGAAGGCCCTGCAGGGAGGCCAGCCACATGGTTACGGCTGTCTCCACCCCTCAGGGCTAAGGTGCCCTGAGGCAGAGGGCCAAGTCACTCACCTGGACTGCTGCAGACAGTGCAAGCGGAAGGTGACAGTGCCTGCCTGTGGTCTCTGTGCGGAGTCCAAAGCGGCTCAGGCGTTCCCCCTGTGGCATGCCATTGGGACAGCCTCAGGTTTCTGCTCTCTCTAGACACCCCCGCACCATGCTGGCCTCACCCCCATTCTTATTCCCATTCTTGGGAAGCGCAGTTCTGTTGGGGAAACCTTATTCCATCACCCAGACTCTATTACCTCAAGGCTAATACTGGGCTATTGGGCTCCCCCAACTAAACCAGGGAACATTCCAACCTCATTTGAGAAGCGGCGGTCTTATATGCTTACTGTGAATCCTCCCCACATCTGATTACTGAGGCCTTCAGTGATGGGGGAAAGAGCCAGTTATTCTGATGGGAACCAGGGGAAATCTCTAATTATACTATTTTCCAGAGACCTCCTACGATAGCAGTGTAGATATTGGAACCTGATTCAAAATGTGGTCATGACTTCCAGCTTAAGCCACAGGAAGGAAGGGGTTAATACTGAAGCAATGCACAACTAAGGGGTCTTGACCCAGATCCCACCTCCTACAGAAGGACAGGACCATAAGTTCTCAGCGTGAAGTCACTCCAAAGACAAAAGTCACCTTGAAGGATCCTGGTATCCGTACATAGGAGAGGTCCTCCAGTTCCAGAGAACCGCCAATGAAAAACCTCCTCAGCTCAGCCACCGTGCCAAGCTCCACAGGTCTCCACGTGGAGACTGTCAGGGTGTGTGAGCCTGCGCAAGGGAAGAGAAGACTGGGGCCAGGTCCAGAAAGGGCATGTGGCCCCTCACTGACTCCCCAGCAATGACACAGGCCTAGACTCAGCTAAAACACCTGGTCTGGTGATGACCTGGCCTCTGGTGCAGGTTATCATGGTTACCCATAGCACCTGTATGGAAATCAATCAGGGAGAAATTCAAATTTCCGCTCTGCCAGTTATTACCTGCATACCCAGGACAGGTTTCTTAACCTCTCTGAAGCTCATTCTCCTCATCTAGTAAAATGGAAATAATACCACCTGCACCTCACAGAGTGACTGGGAGAATTAAGTGAGAAGTATGGCACAATGCCTGGCACACAGTAAAAGACAGATGCTTTTATTCCAAACTGAATGCTGATTCATTCAATACACATATGCTATGAGCCAATTTTGCCATACAGCTTCTCACCCTGAGTCCAATCAGAGGAGCATGAAGCACATGGAGAGACTGTCAGGAAGTCAGTGCCAAGGCCACGTCATTGTCGCTAATGGAGGGGGGCAGAAAGTCCTCAGAGGAACAGGAACTCTTTCAAGCCAAACATTTCCAATTCCCAATTATCTCCACCCCTCACCAGAAGCATTCGAGTGTTAGTCTTGTTCTTAGGGCCTAGGGCATGTGGGCCACAGAAGGGCAGAGACGAGCGGTTACCTGGAGTGGCAGGCAGCACCACAGCCCCATAGCCTTCCACACGGTACCTCTGCCAGAAGTCCAGCGAGAGGACCTCACAGTAGAGCACAGGCCACTCCGGGAGTGCATCTGGGAGCAAGGAGAGAAGCGGCCAGGTCACAGGCGGCCTTCACCAAGAGACAGCACTGCTTGAGGGGAACCAAGGCCCAGGATCAACTGCTGAGCTACTCACCAGAAGATTCATCCTCATGGAGGAAGAAGGCTTCAAACGTGAATGGGTAGGAGAAGTGAGCCACCTTGTCCTATAAAAAGGAGTGTCATAGGGTGGGCAAGGCCTCCCTTGGAATCTGTTCTCCTTGTGGCCAATGACAAGGTTATCTTCACAAGGGAAAAAGAAAAATTATCACCCAGGTGGGAAATAGGAGTCTGAGATGCAAAAGGACACCCAAATACAAGCTGCTGCCATGCTCAAAAAGACAGACAGGATCTCCGGACCAGGTGGCCCTGTAGAACCCACACACAAGTCACCCAACTCTGGAATCCTCCCCAGGGCGCACAGCACTTGGCCTGATAAAACCTCAAATGCCATCCCAGGAGCAGATCTCATTCCCTTCCAGATACCCGCTCTCATTCTCCATACCATTGCCAGGGACTTGGTGGTGCAGGTCTGTG | pathogenic | 279,354 |
Does the genetic variant at chromosome 17, position 58206543, impacting gene MKS1 (MKS transition zone complex subunit 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Bardet-Biedl_syndrome_13', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_28', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_1'] | TGGATGGCTGAGTCCTCTTAGGTCTCTAAGCAGAGAAAACAGAACTTGTCACTAGGTACTCTTTCCAAGTGGCTTCCCAATGTGCTAGTTTCTGGGCTGACAGTCAATTCCAGGCCCTAGGACTTTGGGGGGAAATTAGGAGCATCCAACTATCCTCAGCTTGGTCACTAATACCTGAAAACAGCTCCATTTCTAAACATCCAGTAAATTCCTGACTTATCCAGTTCTGTTACTTCCACAGGAGTCTATCCCAAGTCTCCAACTTTTGGAGACAAGGGGAAGGGGAGGACCATGAGGCTGCCTTGTCTCCCTGGAGCAAGTGCAGGCTGCTGACGCTTCTGCTGGCTACAGCTCAGAGCTGGGTTCCCCAGCCAGGAGTGAAGGCTGGGGGCTCCTATCAGCAATGGACCTTCCCGCCTTGGGAGCCTCTTAGGTATTAGGCTATGAATCAGCGCCACGTGCAAAGGCTTGGGAGCCAAGCCATGTGGTCTTGCACCCCAGGCAAGAAAAGTCAGCTGGAGGGTTTACAGCACTTTCTACTGTTTCCCAGCCCTCCCTCCCCTCCCTCACCATGACTAAGAGACCACTCGGTCCTAGCCTCCAGACACCCCACAATACTCCTCTGAGCCTGAGGCCAGGCAGCATGCTCTGCTTCTACCAATAAAGCACTGCTAAGGGCAGGGGCTGCTGTTTCTGTGTTGGGCTAGGGAAGACGTGGCCTCAGTTCCATGCTTTGCTCCAGATGTTTAAGAGAAGTGCTGTTAACACGCAAGCTGGCACAACCATCTAAGCCTCTCCTGGGGGCTGAATTAGGAGAGCCCAAAGAAACACTGTGGAGTAGGGAAAGGCAGAAAAGGGGAAGGGCAGACATGGTAGGGGCCCCGACATTAAGAACACCCTAGCCATACCAGCAACCTGAGCAGACAAACAGCCAACAGAACATCAGTCAAAATAAAAGGGGTTTATGTAACAAAAAACAAAAAAACAAACAAACAAAAAAACACAGTAAAAGATACCACCCAGCTAGCAGAAAGGACTCAGCACTGCCTTCAGCCTTCACTTACTCAGAAATAACTCATATCTCAACCTCAGCAAGCCCCAAGCAGTAGAATGAGGCTTCCCTGGAAAGAGGCTGAGACTCACAGGCTGGGGATTTAAGACCCTCTCACCGTCCACCTTCCTTCCTTCTTTGGTCTTGGAAGATGAAAGGCTCCATTTTTAAAGGGTGGAGAACAGCAGATCCCCTGCTACTGTGAGACAAGCCAGAAAAGTGAGTCAAGGCCAGACTCACTATGGGGTCACCCCAAACAGCTTCAGATCAAAAAGCCTGCCTTGCTGTGATGCCCATTGACAGTGGCTGCAAATATAAAGGGGGGGCCACAGGGTCTCTGGCTTTATTTCCACAGGGTAGGGAGAAGACCCTGCAGAAGGCTAGGCAGAGGGGCCAGCCGGGAATTTCCCAGCTTTTCTGGTTCTCAGCAGACCAACGTGGTCTCTAATCAGAAAGACGAAGAGGCAGGAGAGCACTGGCCTCAGATATCCCCCATCTTGTCCTCTTGCACTGTGGGCCAGGGCTGCTGTGAGCTAGGAGACCAGGGTTCCAGAGGGGCTCACTAGGTCCTGCGGGAGGCTTTCCCGGGCCTCCTGCATGCGGCGCCGGGCTCGACGGAAGGCCTCTGTAAGGAAAGGAGATATGCTATTTGGCTGCCATATGGTATTTCTCTCTGCACTGCAGAGAGAAACAGGCCCATGCTGACCTGGGGTGGCCAGCTGGGGGAGGGGACATACCTAGCACATTGTGAATGGAACTCTGCTGGCTGAACCCTTCCAGACGGTCCAACACACTCCGCATCCTTTTCTGAAGGGAGCTCGATTCCATGAAGGCCCTGCAGGGAGGCCAGCCACATGGTTACGGCTGTCTCCACCCCTCAGGGCTAAGGTGCCCTGAGGCAGAGGGCCAAGTCACTCACCTGGACTGCTGCAGACAGTGCAAGCGGAAGGTGACAGTGCCTGTGGTCTCTGTGCGGAGTCCAAAGCGGCTCAGGCGTTCCCCCTGTGGCATGCCATTGGGACAGCCTCAGGTTTCTGCTCTCTCTAGACACCCCCGCACCATGCTGGCCTCACCCCCATTCTTATTCCCATTCTTGGGAAGCGCAGTTCTGTTGGGGAAACCTTATTCCATCACCCAGACTCTATTACCTCAAGGCTAATACTGGGCTATTGGGCTCCCCCAACTAAACCAGGGAACATTCCAACCTCATTTGAGAAGCGGCGGTCTTATATGCTTACTGTGAATCCTCCCCACATCTGATTACTGAGGCCTTCAGTGATGGGGGAAAGAGCCAGTTATTCTGATGGGAACCAGGGGAAATCTCTAATTATACTATTTTCCAGAGACCTCCTACGATAGCAGTGTAGATATTGGAACCTGATTCAAAATGTGGTCATGACTTCCAGCTTAAGCCACAGGAAGGAAGGGGTTAATACTGAAGCAATGCACAACTAAGGGGTCTTGACCCAGATCCCACCTCCTACAGAAGGACAGGACCATAAGTTCTCAGCGTGAAGTCACTCCAAAGACAAAAGTCACCTTGAAGGATCCTGGTATCCGTACATAGGAGAGGTCCTCCAGTTCCAGAGAACCGCCAATGAAAAACCTCCTCAGCTCAGCCACCGTGCCAAGCTCCACAGGTCTCCACGTGGAGACTGTCAGGGTGTGTGAGCCTGCGCAAGGGAAGAGAAGACTGGGGCCAGGTCCAGAAAGGGCATGTGGCCCCTCACTGACTCCCCAGCAATGACACAGGCCTAGACTCAGCTAAAACACCTGGTCTGGTGATGACCTGGCCTCTGGTGCAGGTTATCATGGTTACCCATAGCACCTGTATGGAAATCAATCAGGGAGAAATTCAAATTTCCGCTCTGCCAGTTATTACCTGCATACCCAGGACAGGTTTCTTAACCTCTCTGAAGCTCATTCTCCTCATCTAGTAAAATGGAAATAATACCACCTGCACCTCACAGAGTGACTGGGAGAATTAAGTGAGAAGTATGGCACAATGCCTGGCACACAGTAAAAGACAGATGCTTTTATTCCAAACTGAATGCTGATTCATTCAATACACATATGCTATGAGCCAATTTTGCCATACAGCTTCTCACCCTGAGTCCAATCAGAGGAGCATGAAGCACATGGAGAGACTGTCAGGAAGTCAGTGCCAAGGCCACGTCATTGTCGCTAATGGAGGGGGGCAGAAAGTCCTCAGAGGAACAGGAACTCTTTCAAGCCAAACATTTCCAATTCCCAATTATCTCCACCCCTCACCAGAAGCATTCGAGTGTTAGTCTTGTTCTTAGGGCCTAGGGCATGTGGGCCACAGAAGGGCAGAGACGAGCGGTTACCTGGAGTGGCAGGCAGCACCACAGCCCCATAGCCTTCCACACGGTACCTCTGCCAGAAGTCCAGCGAGAGGACCTCACAGTAGAGCACAGGCCACTCCGGGAGTGCATCTGGGAGCAAGGAGAGAAGCGGCCAGGTCACAGGCGGCCTTCACCAAGAGACAGCACTGCTTGAGGGGAACCAAGGCCCAGGATCAACTGCTGAGCTACTCACCAGAAGATTCATCCTCATGGAGGAAGAAGGCTTCAAACGTGAATGGGTAGGAGAAGTGAGCCACCTTGTCCTATAAAAAGGAGTGTCATAGGGTGGGCAAGGCCTCCCTTGGAATCTGTTCTCCTTGTGGCCAATGACAAGGTTATCTTCACAAGGGAAAAAGAAAAATTATCACCCAGGTGGGAAATAGGAGTCTGAGATGCAAAAGGACACCCAAATACAAGCTGCTGCCATGCTCAAAAAGACAGACAGGATCTCCGGACCAGGTGGCCCTGTAGAACCCACACACAAGTCACCCAACTCTGGAATCCTCCCCAGGGCGCACAGCACTTGGCCTGATAAAACCTCAAATGCCATCCCAGGAGCAGATCTCATTCCCTTCCAGATACCCGCTCTCATTCTCCATACCATTGCCAGGGACTTGGTGGTGCAGGTCTGTGTTACTCCTGAGAGCTGCTGGAATGCTGGGCTTGACCAGTCTGAAAG | TGGATGGCTGAGTCCTCTTAGGTCTCTAAGCAGAGAAAACAGAACTTGTCACTAGGTACTCTTTCCAAGTGGCTTCCCAATGTGCTAGTTTCTGGGCTGACAGTCAATTCCAGGCCCTAGGACTTTGGGGGGAAATTAGGAGCATCCAACTATCCTCAGCTTGGTCACTAATACCTGAAAACAGCTCCATTTCTAAACATCCAGTAAATTCCTGACTTATCCAGTTCTGTTACTTCCACAGGAGTCTATCCCAAGTCTCCAACTTTTGGAGACAAGGGGAAGGGGAGGACCATGAGGCTGCCTTGTCTCCCTGGAGCAAGTGCAGGCTGCTGACGCTTCTGCTGGCTACAGCTCAGAGCTGGGTTCCCCAGCCAGGAGTGAAGGCTGGGGGCTCCTATCAGCAATGGACCTTCCCGCCTTGGGAGCCTCTTAGGTATTAGGCTATGAATCAGCGCCACGTGCAAAGGCTTGGGAGCCAAGCCATGTGGTCTTGCACCCCAGGCAAGAAAAGTCAGCTGGAGGGTTTACAGCACTTTCTACTGTTTCCCAGCCCTCCCTCCCCTCCCTCACCATGACTAAGAGACCACTCGGTCCTAGCCTCCAGACACCCCACAATACTCCTCTGAGCCTGAGGCCAGGCAGCATGCTCTGCTTCTACCAATAAAGCACTGCTAAGGGCAGGGGCTGCTGTTTCTGTGTTGGGCTAGGGAAGACGTGGCCTCAGTTCCATGCTTTGCTCCAGATGTTTAAGAGAAGTGCTGTTAACACGCAAGCTGGCACAACCATCTAAGCCTCTCCTGGGGGCTGAATTAGGAGAGCCCAAAGAAACACTGTGGAGTAGGGAAAGGCAGAAAAGGGGAAGGGCAGACATGGTAGGGGCCCCGACATTAAGAACACCCTAGCCATACCAGCAACCTGAGCAGACAAACAGCCAACAGAACATCAGTCAAAATAAAAGGGGTTTATGTAACAAAAAACAAAAAAACAAACAAACAAAAAAACACAGTAAAAGATACCACCCAGCTAGCAGAAAGGACTCAGCACTGCCTTCAGCCTTCACTTACTCAGAAATAACTCATATCTCAACCTCAGCAAGCCCCAAGCAGTAGAATGAGGCTTCCCTGGAAAGAGGCTGAGACTCACAGGCTGGGGATTTAAGACCCTCTCACCGTCCACCTTCCTTCCTTCTTTGGTCTTGGAAGATGAAAGGCTCCATTTTTAAAGGGTGGAGAACAGCAGATCCCCTGCTACTGTGAGACAAGCCAGAAAAGTGAGTCAAGGCCAGACTCACTATGGGGTCACCCCAAACAGCTTCAGATCAAAAAGCCTGCCTTGCTGTGATGCCCATTGACAGTGGCTGCAAATATAAAGGGGGGGCCACAGGGTCTCTGGCTTTATTTCCACAGGGTAGGGAGAAGACCCTGCAGAAGGCTAGGCAGAGGGGCCAGCCGGGAATTTCCCAGCTTTTCTGGTTCTCAGCAGACCAACGTGGTCTCTAATCAGAAAGACGAAGAGGCAGGAGAGCACTGGCCTCAGATATCCCCCATCTTGTCCTCTTGCACTGTGGGCCAGGGCTGCTGTGAGCTAGGAGACCAGGGTTCCAGAGGGGCTCACTAGGTCCTGCGGGAGGCTTTCCCGGGCCTCCTGCATGCGGCGCCGGGCTCGACGGAAGGCCTCTGTAAGGAAAGGAGATATGCTATTTGGCTGCCATATGGTATTTCTCTCTGCACTGCAGAGAGAAACAGGCCCATGCTGACCTGGGGTGGCCAGCTGGGGGAGGGGACATACCTAGCACATTGTGAATGGAACTCTGCTGGCTGAACCCTTCCAGACGGTCCAACACACTCCGCATCCTTTTCTGAAGGGAGCTCGATTCCATGAAGGCCCTGCAGGGAGGCCAGCCACATGGTTACGGCTGTCTCCACCCCTCAGGGCTAAGGTGCCCTGAGGCAGAGGGCCAAGTCACTCACCTGGACTGCTGCAGACAGTGCAAGCGGAAGGTGACAGTGCCTGTGGTCTCTGTGCGGAGTCCAAAGCGGCTCAGGCGTTCCCCCCTGTGGCATGCCATTGGGACAGCCTCAGGTTTCTGCTCTCTCTAGACACCCCCGCACCATGCTGGCCTCACCCCCATTCTTATTCCCATTCTTGGGAAGCGCAGTTCTGTTGGGGAAACCTTATTCCATCACCCAGACTCTATTACCTCAAGGCTAATACTGGGCTATTGGGCTCCCCCAACTAAACCAGGGAACATTCCAACCTCATTTGAGAAGCGGCGGTCTTATATGCTTACTGTGAATCCTCCCCACATCTGATTACTGAGGCCTTCAGTGATGGGGGAAAGAGCCAGTTATTCTGATGGGAACCAGGGGAAATCTCTAATTATACTATTTTCCAGAGACCTCCTACGATAGCAGTGTAGATATTGGAACCTGATTCAAAATGTGGTCATGACTTCCAGCTTAAGCCACAGGAAGGAAGGGGTTAATACTGAAGCAATGCACAACTAAGGGGTCTTGACCCAGATCCCACCTCCTACAGAAGGACAGGACCATAAGTTCTCAGCGTGAAGTCACTCCAAAGACAAAAGTCACCTTGAAGGATCCTGGTATCCGTACATAGGAGAGGTCCTCCAGTTCCAGAGAACCGCCAATGAAAAACCTCCTCAGCTCAGCCACCGTGCCAAGCTCCACAGGTCTCCACGTGGAGACTGTCAGGGTGTGTGAGCCTGCGCAAGGGAAGAGAAGACTGGGGCCAGGTCCAGAAAGGGCATGTGGCCCCTCACTGACTCCCCAGCAATGACACAGGCCTAGACTCAGCTAAAACACCTGGTCTGGTGATGACCTGGCCTCTGGTGCAGGTTATCATGGTTACCCATAGCACCTGTATGGAAATCAATCAGGGAGAAATTCAAATTTCCGCTCTGCCAGTTATTACCTGCATACCCAGGACAGGTTTCTTAACCTCTCTGAAGCTCATTCTCCTCATCTAGTAAAATGGAAATAATACCACCTGCACCTCACAGAGTGACTGGGAGAATTAAGTGAGAAGTATGGCACAATGCCTGGCACACAGTAAAAGACAGATGCTTTTATTCCAAACTGAATGCTGATTCATTCAATACACATATGCTATGAGCCAATTTTGCCATACAGCTTCTCACCCTGAGTCCAATCAGAGGAGCATGAAGCACATGGAGAGACTGTCAGGAAGTCAGTGCCAAGGCCACGTCATTGTCGCTAATGGAGGGGGGCAGAAAGTCCTCAGAGGAACAGGAACTCTTTCAAGCCAAACATTTCCAATTCCCAATTATCTCCACCCCTCACCAGAAGCATTCGAGTGTTAGTCTTGTTCTTAGGGCCTAGGGCATGTGGGCCACAGAAGGGCAGAGACGAGCGGTTACCTGGAGTGGCAGGCAGCACCACAGCCCCATAGCCTTCCACACGGTACCTCTGCCAGAAGTCCAGCGAGAGGACCTCACAGTAGAGCACAGGCCACTCCGGGAGTGCATCTGGGAGCAAGGAGAGAAGCGGCCAGGTCACAGGCGGCCTTCACCAAGAGACAGCACTGCTTGAGGGGAACCAAGGCCCAGGATCAACTGCTGAGCTACTCACCAGAAGATTCATCCTCATGGAGGAAGAAGGCTTCAAACGTGAATGGGTAGGAGAAGTGAGCCACCTTGTCCTATAAAAAGGAGTGTCATAGGGTGGGCAAGGCCTCCCTTGGAATCTGTTCTCCTTGTGGCCAATGACAAGGTTATCTTCACAAGGGAAAAAGAAAAATTATCACCCAGGTGGGAAATAGGAGTCTGAGATGCAAAAGGACACCCAAATACAAGCTGCTGCCATGCTCAAAAAGACAGACAGGATCTCCGGACCAGGTGGCCCTGTAGAACCCACACACAAGTCACCCAACTCTGGAATCCTCCCCAGGGCGCACAGCACTTGGCCTGATAAAACCTCAAATGCCATCCCAGGAGCAGATCTCATTCCCTTCCAGATACCCGCTCTCATTCTCCATACCATTGCCAGGGACTTGGTGGTGCAGGTCTGTGTTACTCCTGAGAGCTGCTGGAATGCTGGGCTTGACCAGTCTGAAA | pathogenic | 279,355 |
The chromosome 17, position 58206552 genetic variant in gene MKS1 (MKS transition zone complex subunit 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Bardet-Biedl_syndrome_13', 'Familial_aplasia_of_the_vermis', 'Inborn_genetic_diseases', 'Joubert_syndrome_28', 'MKS1-related_disorder', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_1'] | GAGTCCTCTTAGGTCTCTAAGCAGAGAAAACAGAACTTGTCACTAGGTACTCTTTCCAAGTGGCTTCCCAATGTGCTAGTTTCTGGGCTGACAGTCAATTCCAGGCCCTAGGACTTTGGGGGGAAATTAGGAGCATCCAACTATCCTCAGCTTGGTCACTAATACCTGAAAACAGCTCCATTTCTAAACATCCAGTAAATTCCTGACTTATCCAGTTCTGTTACTTCCACAGGAGTCTATCCCAAGTCTCCAACTTTTGGAGACAAGGGGAAGGGGAGGACCATGAGGCTGCCTTGTCTCCCTGGAGCAAGTGCAGGCTGCTGACGCTTCTGCTGGCTACAGCTCAGAGCTGGGTTCCCCAGCCAGGAGTGAAGGCTGGGGGCTCCTATCAGCAATGGACCTTCCCGCCTTGGGAGCCTCTTAGGTATTAGGCTATGAATCAGCGCCACGTGCAAAGGCTTGGGAGCCAAGCCATGTGGTCTTGCACCCCAGGCAAGAAAAGTCAGCTGGAGGGTTTACAGCACTTTCTACTGTTTCCCAGCCCTCCCTCCCCTCCCTCACCATGACTAAGAGACCACTCGGTCCTAGCCTCCAGACACCCCACAATACTCCTCTGAGCCTGAGGCCAGGCAGCATGCTCTGCTTCTACCAATAAAGCACTGCTAAGGGCAGGGGCTGCTGTTTCTGTGTTGGGCTAGGGAAGACGTGGCCTCAGTTCCATGCTTTGCTCCAGATGTTTAAGAGAAGTGCTGTTAACACGCAAGCTGGCACAACCATCTAAGCCTCTCCTGGGGGCTGAATTAGGAGAGCCCAAAGAAACACTGTGGAGTAGGGAAAGGCAGAAAAGGGGAAGGGCAGACATGGTAGGGGCCCCGACATTAAGAACACCCTAGCCATACCAGCAACCTGAGCAGACAAACAGCCAACAGAACATCAGTCAAAATAAAAGGGGTTTATGTAACAAAAAACAAAAAAACAAACAAACAAAAAAACACAGTAAAAGATACCACCCAGCTAGCAGAAAGGACTCAGCACTGCCTTCAGCCTTCACTTACTCAGAAATAACTCATATCTCAACCTCAGCAAGCCCCAAGCAGTAGAATGAGGCTTCCCTGGAAAGAGGCTGAGACTCACAGGCTGGGGATTTAAGACCCTCTCACCGTCCACCTTCCTTCCTTCTTTGGTCTTGGAAGATGAAAGGCTCCATTTTTAAAGGGTGGAGAACAGCAGATCCCCTGCTACTGTGAGACAAGCCAGAAAAGTGAGTCAAGGCCAGACTCACTATGGGGTCACCCCAAACAGCTTCAGATCAAAAAGCCTGCCTTGCTGTGATGCCCATTGACAGTGGCTGCAAATATAAAGGGGGGGCCACAGGGTCTCTGGCTTTATTTCCACAGGGTAGGGAGAAGACCCTGCAGAAGGCTAGGCAGAGGGGCCAGCCGGGAATTTCCCAGCTTTTCTGGTTCTCAGCAGACCAACGTGGTCTCTAATCAGAAAGACGAAGAGGCAGGAGAGCACTGGCCTCAGATATCCCCCATCTTGTCCTCTTGCACTGTGGGCCAGGGCTGCTGTGAGCTAGGAGACCAGGGTTCCAGAGGGGCTCACTAGGTCCTGCGGGAGGCTTTCCCGGGCCTCCTGCATGCGGCGCCGGGCTCGACGGAAGGCCTCTGTAAGGAAAGGAGATATGCTATTTGGCTGCCATATGGTATTTCTCTCTGCACTGCAGAGAGAAACAGGCCCATGCTGACCTGGGGTGGCCAGCTGGGGGAGGGGACATACCTAGCACATTGTGAATGGAACTCTGCTGGCTGAACCCTTCCAGACGGTCCAACACACTCCGCATCCTTTTCTGAAGGGAGCTCGATTCCATGAAGGCCCTGCAGGGAGGCCAGCCACATGGTTACGGCTGTCTCCACCCCTCAGGGCTAAGGTGCCCTGAGGCAGAGGGCCAAGTCACTCACCTGGACTGCTGCAGACAGTGCAAGCGGAAGGTGACAGTGCCTGTGGTCTCTGTGCGGAGTCCAAAGCGGCTCAGGCGTTCCCCCTGTGGCATGCCATTGGGACAGCCTCAGGTTTCTGCTCTCTCTAGACACCCCCGCACCATGCTGGCCTCACCCCCATTCTTATTCCCATTCTTGGGAAGCGCAGTTCTGTTGGGGAAACCTTATTCCATCACCCAGACTCTATTACCTCAAGGCTAATACTGGGCTATTGGGCTCCCCCAACTAAACCAGGGAACATTCCAACCTCATTTGAGAAGCGGCGGTCTTATATGCTTACTGTGAATCCTCCCCACATCTGATTACTGAGGCCTTCAGTGATGGGGGAAAGAGCCAGTTATTCTGATGGGAACCAGGGGAAATCTCTAATTATACTATTTTCCAGAGACCTCCTACGATAGCAGTGTAGATATTGGAACCTGATTCAAAATGTGGTCATGACTTCCAGCTTAAGCCACAGGAAGGAAGGGGTTAATACTGAAGCAATGCACAACTAAGGGGTCTTGACCCAGATCCCACCTCCTACAGAAGGACAGGACCATAAGTTCTCAGCGTGAAGTCACTCCAAAGACAAAAGTCACCTTGAAGGATCCTGGTATCCGTACATAGGAGAGGTCCTCCAGTTCCAGAGAACCGCCAATGAAAAACCTCCTCAGCTCAGCCACCGTGCCAAGCTCCACAGGTCTCCACGTGGAGACTGTCAGGGTGTGTGAGCCTGCGCAAGGGAAGAGAAGACTGGGGCCAGGTCCAGAAAGGGCATGTGGCCCCTCACTGACTCCCCAGCAATGACACAGGCCTAGACTCAGCTAAAACACCTGGTCTGGTGATGACCTGGCCTCTGGTGCAGGTTATCATGGTTACCCATAGCACCTGTATGGAAATCAATCAGGGAGAAATTCAAATTTCCGCTCTGCCAGTTATTACCTGCATACCCAGGACAGGTTTCTTAACCTCTCTGAAGCTCATTCTCCTCATCTAGTAAAATGGAAATAATACCACCTGCACCTCACAGAGTGACTGGGAGAATTAAGTGAGAAGTATGGCACAATGCCTGGCACACAGTAAAAGACAGATGCTTTTATTCCAAACTGAATGCTGATTCATTCAATACACATATGCTATGAGCCAATTTTGCCATACAGCTTCTCACCCTGAGTCCAATCAGAGGAGCATGAAGCACATGGAGAGACTGTCAGGAAGTCAGTGCCAAGGCCACGTCATTGTCGCTAATGGAGGGGGGCAGAAAGTCCTCAGAGGAACAGGAACTCTTTCAAGCCAAACATTTCCAATTCCCAATTATCTCCACCCCTCACCAGAAGCATTCGAGTGTTAGTCTTGTTCTTAGGGCCTAGGGCATGTGGGCCACAGAAGGGCAGAGACGAGCGGTTACCTGGAGTGGCAGGCAGCACCACAGCCCCATAGCCTTCCACACGGTACCTCTGCCAGAAGTCCAGCGAGAGGACCTCACAGTAGAGCACAGGCCACTCCGGGAGTGCATCTGGGAGCAAGGAGAGAAGCGGCCAGGTCACAGGCGGCCTTCACCAAGAGACAGCACTGCTTGAGGGGAACCAAGGCCCAGGATCAACTGCTGAGCTACTCACCAGAAGATTCATCCTCATGGAGGAAGAAGGCTTCAAACGTGAATGGGTAGGAGAAGTGAGCCACCTTGTCCTATAAAAAGGAGTGTCATAGGGTGGGCAAGGCCTCCCTTGGAATCTGTTCTCCTTGTGGCCAATGACAAGGTTATCTTCACAAGGGAAAAAGAAAAATTATCACCCAGGTGGGAAATAGGAGTCTGAGATGCAAAAGGACACCCAAATACAAGCTGCTGCCATGCTCAAAAAGACAGACAGGATCTCCGGACCAGGTGGCCCTGTAGAACCCACACACAAGTCACCCAACTCTGGAATCCTCCCCAGGGCGCACAGCACTTGGCCTGATAAAACCTCAAATGCCATCCCAGGAGCAGATCTCATTCCCTTCCAGATACCCGCTCTCATTCTCCATACCATTGCCAGGGACTTGGTGGTGCAGGTCTGTGTTACTCCTGAGAGCTGCTGGAATGCTGGGCTTGACCAGTCTGAAAGCCAAAGACC | GAGTCCTCTTAGGTCTCTAAGCAGAGAAAACAGAACTTGTCACTAGGTACTCTTTCCAAGTGGCTTCCCAATGTGCTAGTTTCTGGGCTGACAGTCAATTCCAGGCCCTAGGACTTTGGGGGGAAATTAGGAGCATCCAACTATCCTCAGCTTGGTCACTAATACCTGAAAACAGCTCCATTTCTAAACATCCAGTAAATTCCTGACTTATCCAGTTCTGTTACTTCCACAGGAGTCTATCCCAAGTCTCCAACTTTTGGAGACAAGGGGAAGGGGAGGACCATGAGGCTGCCTTGTCTCCCTGGAGCAAGTGCAGGCTGCTGACGCTTCTGCTGGCTACAGCTCAGAGCTGGGTTCCCCAGCCAGGAGTGAAGGCTGGGGGCTCCTATCAGCAATGGACCTTCCCGCCTTGGGAGCCTCTTAGGTATTAGGCTATGAATCAGCGCCACGTGCAAAGGCTTGGGAGCCAAGCCATGTGGTCTTGCACCCCAGGCAAGAAAAGTCAGCTGGAGGGTTTACAGCACTTTCTACTGTTTCCCAGCCCTCCCTCCCCTCCCTCACCATGACTAAGAGACCACTCGGTCCTAGCCTCCAGACACCCCACAATACTCCTCTGAGCCTGAGGCCAGGCAGCATGCTCTGCTTCTACCAATAAAGCACTGCTAAGGGCAGGGGCTGCTGTTTCTGTGTTGGGCTAGGGAAGACGTGGCCTCAGTTCCATGCTTTGCTCCAGATGTTTAAGAGAAGTGCTGTTAACACGCAAGCTGGCACAACCATCTAAGCCTCTCCTGGGGGCTGAATTAGGAGAGCCCAAAGAAACACTGTGGAGTAGGGAAAGGCAGAAAAGGGGAAGGGCAGACATGGTAGGGGCCCCGACATTAAGAACACCCTAGCCATACCAGCAACCTGAGCAGACAAACAGCCAACAGAACATCAGTCAAAATAAAAGGGGTTTATGTAACAAAAAACAAAAAAACAAACAAACAAAAAAACACAGTAAAAGATACCACCCAGCTAGCAGAAAGGACTCAGCACTGCCTTCAGCCTTCACTTACTCAGAAATAACTCATATCTCAACCTCAGCAAGCCCCAAGCAGTAGAATGAGGCTTCCCTGGAAAGAGGCTGAGACTCACAGGCTGGGGATTTAAGACCCTCTCACCGTCCACCTTCCTTCCTTCTTTGGTCTTGGAAGATGAAAGGCTCCATTTTTAAAGGGTGGAGAACAGCAGATCCCCTGCTACTGTGAGACAAGCCAGAAAAGTGAGTCAAGGCCAGACTCACTATGGGGTCACCCCAAACAGCTTCAGATCAAAAAGCCTGCCTTGCTGTGATGCCCATTGACAGTGGCTGCAAATATAAAGGGGGGGCCACAGGGTCTCTGGCTTTATTTCCACAGGGTAGGGAGAAGACCCTGCAGAAGGCTAGGCAGAGGGGCCAGCCGGGAATTTCCCAGCTTTTCTGGTTCTCAGCAGACCAACGTGGTCTCTAATCAGAAAGACGAAGAGGCAGGAGAGCACTGGCCTCAGATATCCCCCATCTTGTCCTCTTGCACTGTGGGCCAGGGCTGCTGTGAGCTAGGAGACCAGGGTTCCAGAGGGGCTCACTAGGTCCTGCGGGAGGCTTTCCCGGGCCTCCTGCATGCGGCGCCGGGCTCGACGGAAGGCCTCTGTAAGGAAAGGAGATATGCTATTTGGCTGCCATATGGTATTTCTCTCTGCACTGCAGAGAGAAACAGGCCCATGCTGACCTGGGGTGGCCAGCTGGGGGAGGGGACATACCTAGCACATTGTGAATGGAACTCTGCTGGCTGAACCCTTCCAGACGGTCCAACACACTCCGCATCCTTTTCTGAAGGGAGCTCGATTCCATGAAGGCCCTGCAGGGAGGCCAGCCACATGGTTACGGCTGTCTCCACCCCTCAGGGCTAAGGTGCCCTGAGGCAGAGGGCCAAGTCACTCACCTGGACTGCTGCAGACAGTGCAAGCGGAAGGTGACAGTGCCTGTGGTCTCTGTGCGGAGTCCAAAGCGGCTCAGGCGTTCCCCCTGTGGCTCTCTCTAGACACCCCCGCACCATGCTGGCCTCACCCCCATTCTTATTCCCATTCTTGGGAAGCGCAGTTCTGTTGGGGAAACCTTATTCCATCACCCAGACTCTATTACCTCAAGGCTAATACTGGGCTATTGGGCTCCCCCAACTAAACCAGGGAACATTCCAACCTCATTTGAGAAGCGGCGGTCTTATATGCTTACTGTGAATCCTCCCCACATCTGATTACTGAGGCCTTCAGTGATGGGGGAAAGAGCCAGTTATTCTGATGGGAACCAGGGGAAATCTCTAATTATACTATTTTCCAGAGACCTCCTACGATAGCAGTGTAGATATTGGAACCTGATTCAAAATGTGGTCATGACTTCCAGCTTAAGCCACAGGAAGGAAGGGGTTAATACTGAAGCAATGCACAACTAAGGGGTCTTGACCCAGATCCCACCTCCTACAGAAGGACAGGACCATAAGTTCTCAGCGTGAAGTCACTCCAAAGACAAAAGTCACCTTGAAGGATCCTGGTATCCGTACATAGGAGAGGTCCTCCAGTTCCAGAGAACCGCCAATGAAAAACCTCCTCAGCTCAGCCACCGTGCCAAGCTCCACAGGTCTCCACGTGGAGACTGTCAGGGTGTGTGAGCCTGCGCAAGGGAAGAGAAGACTGGGGCCAGGTCCAGAAAGGGCATGTGGCCCCTCACTGACTCCCCAGCAATGACACAGGCCTAGACTCAGCTAAAACACCTGGTCTGGTGATGACCTGGCCTCTGGTGCAGGTTATCATGGTTACCCATAGCACCTGTATGGAAATCAATCAGGGAGAAATTCAAATTTCCGCTCTGCCAGTTATTACCTGCATACCCAGGACAGGTTTCTTAACCTCTCTGAAGCTCATTCTCCTCATCTAGTAAAATGGAAATAATACCACCTGCACCTCACAGAGTGACTGGGAGAATTAAGTGAGAAGTATGGCACAATGCCTGGCACACAGTAAAAGACAGATGCTTTTATTCCAAACTGAATGCTGATTCATTCAATACACATATGCTATGAGCCAATTTTGCCATACAGCTTCTCACCCTGAGTCCAATCAGAGGAGCATGAAGCACATGGAGAGACTGTCAGGAAGTCAGTGCCAAGGCCACGTCATTGTCGCTAATGGAGGGGGGCAGAAAGTCCTCAGAGGAACAGGAACTCTTTCAAGCCAAACATTTCCAATTCCCAATTATCTCCACCCCTCACCAGAAGCATTCGAGTGTTAGTCTTGTTCTTAGGGCCTAGGGCATGTGGGCCACAGAAGGGCAGAGACGAGCGGTTACCTGGAGTGGCAGGCAGCACCACAGCCCCATAGCCTTCCACACGGTACCTCTGCCAGAAGTCCAGCGAGAGGACCTCACAGTAGAGCACAGGCCACTCCGGGAGTGCATCTGGGAGCAAGGAGAGAAGCGGCCAGGTCACAGGCGGCCTTCACCAAGAGACAGCACTGCTTGAGGGGAACCAAGGCCCAGGATCAACTGCTGAGCTACTCACCAGAAGATTCATCCTCATGGAGGAAGAAGGCTTCAAACGTGAATGGGTAGGAGAAGTGAGCCACCTTGTCCTATAAAAAGGAGTGTCATAGGGTGGGCAAGGCCTCCCTTGGAATCTGTTCTCCTTGTGGCCAATGACAAGGTTATCTTCACAAGGGAAAAAGAAAAATTATCACCCAGGTGGGAAATAGGAGTCTGAGATGCAAAAGGACACCCAAATACAAGCTGCTGCCATGCTCAAAAAGACAGACAGGATCTCCGGACCAGGTGGCCCTGTAGAACCCACACACAAGTCACCCAACTCTGGAATCCTCCCCAGGGCGCACAGCACTTGGCCTGATAAAACCTCAAATGCCATCCCAGGAGCAGATCTCATTCCCTTCCAGATACCCGCTCTCATTCTCCATACCATTGCCAGGGACTTGGTGGTGCAGGTCTGTGTTACTCCTGAGAGCTGCTGGAATGCTGGGCTTGACCAGTCTGAAAGCCAAAGACCNNNNNNNNNNNNNNNNNNNNNNNNNNNNN | pathogenic | 279,356 |
Mutation at chromosome 17, position 58207097, within MKS1 (MKS transition zone complex subunit 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Bardet-Biedl_syndrome_13', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_28', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_1'] | CCCTCCCCTCCCTCACCATGACTAAGAGACCACTCGGTCCTAGCCTCCAGACACCCCACAATACTCCTCTGAGCCTGAGGCCAGGCAGCATGCTCTGCTTCTACCAATAAAGCACTGCTAAGGGCAGGGGCTGCTGTTTCTGTGTTGGGCTAGGGAAGACGTGGCCTCAGTTCCATGCTTTGCTCCAGATGTTTAAGAGAAGTGCTGTTAACACGCAAGCTGGCACAACCATCTAAGCCTCTCCTGGGGGCTGAATTAGGAGAGCCCAAAGAAACACTGTGGAGTAGGGAAAGGCAGAAAAGGGGAAGGGCAGACATGGTAGGGGCCCCGACATTAAGAACACCCTAGCCATACCAGCAACCTGAGCAGACAAACAGCCAACAGAACATCAGTCAAAATAAAAGGGGTTTATGTAACAAAAAACAAAAAAACAAACAAACAAAAAAACACAGTAAAAGATACCACCCAGCTAGCAGAAAGGACTCAGCACTGCCTTCAGCCTTCACTTACTCAGAAATAACTCATATCTCAACCTCAGCAAGCCCCAAGCAGTAGAATGAGGCTTCCCTGGAAAGAGGCTGAGACTCACAGGCTGGGGATTTAAGACCCTCTCACCGTCCACCTTCCTTCCTTCTTTGGTCTTGGAAGATGAAAGGCTCCATTTTTAAAGGGTGGAGAACAGCAGATCCCCTGCTACTGTGAGACAAGCCAGAAAAGTGAGTCAAGGCCAGACTCACTATGGGGTCACCCCAAACAGCTTCAGATCAAAAAGCCTGCCTTGCTGTGATGCCCATTGACAGTGGCTGCAAATATAAAGGGGGGGCCACAGGGTCTCTGGCTTTATTTCCACAGGGTAGGGAGAAGACCCTGCAGAAGGCTAGGCAGAGGGGCCAGCCGGGAATTTCCCAGCTTTTCTGGTTCTCAGCAGACCAACGTGGTCTCTAATCAGAAAGACGAAGAGGCAGGAGAGCACTGGCCTCAGATATCCCCCATCTTGTCCTCTTGCACTGTGGGCCAGGGCTGCTGTGAGCTAGGAGACCAGGGTTCCAGAGGGGCTCACTAGGTCCTGCGGGAGGCTTTCCCGGGCCTCCTGCATGCGGCGCCGGGCTCGACGGAAGGCCTCTGTAAGGAAAGGAGATATGCTATTTGGCTGCCATATGGTATTTCTCTCTGCACTGCAGAGAGAAACAGGCCCATGCTGACCTGGGGTGGCCAGCTGGGGGAGGGGACATACCTAGCACATTGTGAATGGAACTCTGCTGGCTGAACCCTTCCAGACGGTCCAACACACTCCGCATCCTTTTCTGAAGGGAGCTCGATTCCATGAAGGCCCTGCAGGGAGGCCAGCCACATGGTTACGGCTGTCTCCACCCCTCAGGGCTAAGGTGCCCTGAGGCAGAGGGCCAAGTCACTCACCTGGACTGCTGCAGACAGTGCAAGCGGAAGGTGACAGTGCCTGTGGTCTCTGTGCGGAGTCCAAAGCGGCTCAGGCGTTCCCCCTGTGGCATGCCATTGGGACAGCCTCAGGTTTCTGCTCTCTCTAGACACCCCCGCACCATGCTGGCCTCACCCCCATTCTTATTCCCATTCTTGGGAAGCGCAGTTCTGTTGGGGAAACCTTATTCCATCACCCAGACTCTATTACCTCAAGGCTAATACTGGGCTATTGGGCTCCCCCAACTAAACCAGGGAACATTCCAACCTCATTTGAGAAGCGGCGGTCTTATATGCTTACTGTGAATCCTCCCCACATCTGATTACTGAGGCCTTCAGTGATGGGGGAAAGAGCCAGTTATTCTGATGGGAACCAGGGGAAATCTCTAATTATACTATTTTCCAGAGACCTCCTACGATAGCAGTGTAGATATTGGAACCTGATTCAAAATGTGGTCATGACTTCCAGCTTAAGCCACAGGAAGGAAGGGGTTAATACTGAAGCAATGCACAACTAAGGGGTCTTGACCCAGATCCCACCTCCTACAGAAGGACAGGACCATAAGTTCTCAGCGTGAAGTCACTCCAAAGACAAAAGTCACCTTGAAGGATCCTGGTATCCGTACATAGGAGAGGTCCTCCAGTTCCAGAGAACCGCCAATGAAAAACCTCCTCAGCTCAGCCACCGTGCCAAGCTCCACAGGTCTCCACGTGGAGACTGTCAGGGTGTGTGAGCCTGCGCAAGGGAAGAGAAGACTGGGGCCAGGTCCAGAAAGGGCATGTGGCCCCTCACTGACTCCCCAGCAATGACACAGGCCTAGACTCAGCTAAAACACCTGGTCTGGTGATGACCTGGCCTCTGGTGCAGGTTATCATGGTTACCCATAGCACCTGTATGGAAATCAATCAGGGAGAAATTCAAATTTCCGCTCTGCCAGTTATTACCTGCATACCCAGGACAGGTTTCTTAACCTCTCTGAAGCTCATTCTCCTCATCTAGTAAAATGGAAATAATACCACCTGCACCTCACAGAGTGACTGGGAGAATTAAGTGAGAAGTATGGCACAATGCCTGGCACACAGTAAAAGACAGATGCTTTTATTCCAAACTGAATGCTGATTCATTCAATACACATATGCTATGAGCCAATTTTGCCATACAGCTTCTCACCCTGAGTCCAATCAGAGGAGCATGAAGCACATGGAGAGACTGTCAGGAAGTCAGTGCCAAGGCCACGTCATTGTCGCTAATGGAGGGGGGCAGAAAGTCCTCAGAGGAACAGGAACTCTTTCAAGCCAAACATTTCCAATTCCCAATTATCTCCACCCCTCACCAGAAGCATTCGAGTGTTAGTCTTGTTCTTAGGGCCTAGGGCATGTGGGCCACAGAAGGGCAGAGACGAGCGGTTACCTGGAGTGGCAGGCAGCACCACAGCCCCATAGCCTTCCACACGGTACCTCTGCCAGAAGTCCAGCGAGAGGACCTCACAGTAGAGCACAGGCCACTCCGGGAGTGCATCTGGGAGCAAGGAGAGAAGCGGCCAGGTCACAGGCGGCCTTCACCAAGAGACAGCACTGCTTGAGGGGAACCAAGGCCCAGGATCAACTGCTGAGCTACTCACCAGAAGATTCATCCTCATGGAGGAAGAAGGCTTCAAACGTGAATGGGTAGGAGAAGTGAGCCACCTTGTCCTATAAAAAGGAGTGTCATAGGGTGGGCAAGGCCTCCCTTGGAATCTGTTCTCCTTGTGGCCAATGACAAGGTTATCTTCACAAGGGAAAAAGAAAAATTATCACCCAGGTGGGAAATAGGAGTCTGAGATGCAAAAGGACACCCAAATACAAGCTGCTGCCATGCTCAAAAAGACAGACAGGATCTCCGGACCAGGTGGCCCTGTAGAACCCACACACAAGTCACCCAACTCTGGAATCCTCCCCAGGGCGCACAGCACTTGGCCTGATAAAACCTCAAATGCCATCCCAGGAGCAGATCTCATTCCCTTCCAGATACCCGCTCTCATTCTCCATACCATTGCCAGGGACTTGGTGGTGCAGGTCTGTGTTACTCCTGAGAGCTGCTGGAATGCTGGGCTTGACCAGTCTGAAAGCCAAAGACCAAATATAGTAAGCTCGCCTGGGAGGAAAGCAAGTCATTCAGAAAAAGACAGTTTCTTTTTTCTTTTCTTTTTTTTTTTTGTATTTATTGATCATTCTTGGGTGTTTCTCGGAGAGGGGGATGTGGCAGGGTCATAGGATAATAGTGGAGAGAAGGTCAGCAGATAAACACGTGAACAAAGGTCTCTGGTTCTCCTAGGCAGAGGTCCCTGCGGCCTTCCACAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAAGGAGCATGCTGCCTTCAAGCACCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCTTGAGTTGACACAGCACATGTTTCAGAGAGCACGGGGTTGGGGGTAAGGTTATAGATTAACAGCATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGGAGTCTCCTATGTCTACTTCTTTCTACACAGACACAGTAACAATCTGATCTCTCTTTCTTTTCCCCACATTTCCCCCTTTTCTTTTTGACAAAACCGCCAT | CCCTCCCCTCCCTCACCATGACTAAGAGACCACTCGGTCCTAGCCTCCAGACACCCCACAATACTCCTCTGAGCCTGAGGCCAGGCAGCATGCTCTGCTTCTACCAATAAAGCACTGCTAAGGGCAGGGGCTGCTGTTTCTGTGTTGGGCTAGGGAAGACGTGGCCTCAGTTCCATGCTTTGCTCCAGATGTTTAAGAGAAGTGCTGTTAACACGCAAGCTGGCACAACCATCTAAGCCTCTCCTGGGGGCTGAATTAGGAGAGCCCAAAGAAACACTGTGGAGTAGGGAAAGGCAGAAAAGGGGAAGGGCAGACATGGTAGGGGCCCCGACATTAAGAACACCCTAGCCATACCAGCAACCTGAGCAGACAAACAGCCAACAGAACATCAGTCAAAATAAAAGGGGTTTATGTAACAAAAAACAAAAAAACAAACAAACAAAAAAACACAGTAAAAGATACCACCCAGCTAGCAGAAAGGACTCAGCACTGCCTTCAGCCTTCACTTACTCAGAAATAACTCATATCTCAACCTCAGCAAGCCCCAAGCAGTAGAATGAGGCTTCCCTGGAAAGAGGCTGAGACTCACAGGCTGGGGATTTAAGACCCTCTCACCGTCCACCTTCCTTCCTTCTTTGGTCTTGGAAGATGAAAGGCTCCATTTTTAAAGGGTGGAGAACAGCAGATCCCCTGCTACTGTGAGACAAGCCAGAAAAGTGAGTCAAGGCCAGACTCACTATGGGGTCACCCCAAACAGCTTCAGATCAAAAAGCCTGCCTTGCTGTGATGCCCATTGACAGTGGCTGCAAATATAAAGGGGGGGCCACAGGGTCTCTGGCTTTATTTCCACAGGGTAGGGAGAAGACCCTGCAGAAGGCTAGGCAGAGGGGCCAGCCGGGAATTTCCCAGCTTTTCTGGTTCTCAGCAGACCAACGTGGTCTCTAATCAGAAAGACGAAGAGGCAGGAGAGCACTGGCCTCAGATATCCCCCATCTTGTCCTCTTGCACTGTGGGCCAGGGCTGCTGTGAGCTAGGAGACCAGGGTTCCAGAGGGGCTCACTAGGTCCTGCGGGAGGCTTTCCCGGGCCTCCTGCATGCGGCGCCGGGCTCGACGGAAGGCCTCTGTAAGGAAAGGAGATATGCTATTTGGCTGCCATATGGTATTTCTCTCTGCACTGCAGAGAGAAACAGGCCCATGCTGACCTGGGGTGGCCAGCTGGGGGAGGGGACATACCTAGCACATTGTGAATGGAACTCTGCTGGCTGAACCCTTCCAGACGGTCCAACACACTCCGCATCCTTTTCTGAAGGGAGCTCGATTCCATGAAGGCCCTGCAGGGAGGCCAGCCACATGGTTACGGCTGTCTCCACCCCTCAGGGCTAAGGTGCCCTGAGGCAGAGGGCCAAGTCACTCACCTGGACTGCTGCAGACAGTGCAAGCGGAAGGTGACAGTGCCTGTGGTCTCTGTGCGGAGTCCAAAGCGGCTCAGGCGTTCCCCCTGTGGCATGCCATTGGGACAGCCTCAGGTTTCTGCTCTCTCTAGACACCCCCGCACCATGCTGGCCTCACCCCCATTCTTATTCCCATTCTTGGGAAGCGCAGTTCTGTTGGGGAAACCTTATTCCATCACCCAGACTCTATTACCTCAAGGCTAATACTGGGCTATTGGGCTCCCCCAACTAAACCAGGGAACATTCCAACCTCATTTGAGAAGCGGCGGTCTTATATGCTTACTGTGAATCCTCCCCACATCTGATTACTGAGGCCTTCAGTGATGGGGGAAAGAGCCAGTTATTCTGATGGGAACCAGGGGAAATCTCTAATTATACTATTTTCCAGAGACCTCCTACGATAGCAGTGTAGATATTGGAACCTGATTCAAAATGTGGTCATGACTTCCAGCTTAAGCCACAGGAAGGAAGGGGTTAATACTGAAGCAATGCACAACTAAGGGGTCTTGACCCAGATCCCACCTCCTACAGAAGGACAGGACCATAAGTTCTCAGCGTGAAGTCACTCCAAAGACAAAAGTCACCTTGAAGGATCCTGTATCCGTACATAGGAGAGGTCCTCCAGTTCCAGAGAACCGCCAATGAAAAACCTCCTCAGCTCAGCCACCGTGCCAAGCTCCACAGGTCTCCACGTGGAGACTGTCAGGGTGTGTGAGCCTGCGCAAGGGAAGAGAAGACTGGGGCCAGGTCCAGAAAGGGCATGTGGCCCCTCACTGACTCCCCAGCAATGACACAGGCCTAGACTCAGCTAAAACACCTGGTCTGGTGATGACCTGGCCTCTGGTGCAGGTTATCATGGTTACCCATAGCACCTGTATGGAAATCAATCAGGGAGAAATTCAAATTTCCGCTCTGCCAGTTATTACCTGCATACCCAGGACAGGTTTCTTAACCTCTCTGAAGCTCATTCTCCTCATCTAGTAAAATGGAAATAATACCACCTGCACCTCACAGAGTGACTGGGAGAATTAAGTGAGAAGTATGGCACAATGCCTGGCACACAGTAAAAGACAGATGCTTTTATTCCAAACTGAATGCTGATTCATTCAATACACATATGCTATGAGCCAATTTTGCCATACAGCTTCTCACCCTGAGTCCAATCAGAGGAGCATGAAGCACATGGAGAGACTGTCAGGAAGTCAGTGCCAAGGCCACGTCATTGTCGCTAATGGAGGGGGGCAGAAAGTCCTCAGAGGAACAGGAACTCTTTCAAGCCAAACATTTCCAATTCCCAATTATCTCCACCCCTCACCAGAAGCATTCGAGTGTTAGTCTTGTTCTTAGGGCCTAGGGCATGTGGGCCACAGAAGGGCAGAGACGAGCGGTTACCTGGAGTGGCAGGCAGCACCACAGCCCCATAGCCTTCCACACGGTACCTCTGCCAGAAGTCCAGCGAGAGGACCTCACAGTAGAGCACAGGCCACTCCGGGAGTGCATCTGGGAGCAAGGAGAGAAGCGGCCAGGTCACAGGCGGCCTTCACCAAGAGACAGCACTGCTTGAGGGGAACCAAGGCCCAGGATCAACTGCTGAGCTACTCACCAGAAGATTCATCCTCATGGAGGAAGAAGGCTTCAAACGTGAATGGGTAGGAGAAGTGAGCCACCTTGTCCTATAAAAAGGAGTGTCATAGGGTGGGCAAGGCCTCCCTTGGAATCTGTTCTCCTTGTGGCCAATGACAAGGTTATCTTCACAAGGGAAAAAGAAAAATTATCACCCAGGTGGGAAATAGGAGTCTGAGATGCAAAAGGACACCCAAATACAAGCTGCTGCCATGCTCAAAAAGACAGACAGGATCTCCGGACCAGGTGGCCCTGTAGAACCCACACACAAGTCACCCAACTCTGGAATCCTCCCCAGGGCGCACAGCACTTGGCCTGATAAAACCTCAAATGCCATCCCAGGAGCAGATCTCATTCCCTTCCAGATACCCGCTCTCATTCTCCATACCATTGCCAGGGACTTGGTGGTGCAGGTCTGTGTTACTCCTGAGAGCTGCTGGAATGCTGGGCTTGACCAGTCTGAAAGCCAAAGACCAAATATAGTAAGCTCGCCTGGGAGGAAAGCAAGTCATTCAGAAAAAGACAGTTTCTTTTTTCTTTTCTTTTTTTTTTTTGTATTTATTGATCATTCTTGGGTGTTTCTCGGAGAGGGGGATGTGGCAGGGTCATAGGATAATAGTGGAGAGAAGGTCAGCAGATAAACACGTGAACAAAGGTCTCTGGTTCTCCTAGGCAGAGGTCCCTGCGGCCTTCCACAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAAGGAGCATGCTGCCTTCAAGCACCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCTTGAGTTGACACAGCACATGTTTCAGAGAGCACGGGGTTGGGGGTAAGGTTATAGATTAACAGCATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGGAGTCTCCTATGTCTACTTCTTTCTACACAGACACAGTAACAATCTGATCTCTCTTTCTTTTCCCCACATTTCCCCCTTTTCTTTTTGACAAAACCGCCATN | pathogenic | 279,360 |
Does the chromosome 17 mutation at position 58208143 within gene MKS1 (MKS transition zone complex subunit 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_1'] | CCAGAGGGGCTCACTAGGTCCTGCGGGAGGCTTTCCCGGGCCTCCTGCATGCGGCGCCGGGCTCGACGGAAGGCCTCTGTAAGGAAAGGAGATATGCTATTTGGCTGCCATATGGTATTTCTCTCTGCACTGCAGAGAGAAACAGGCCCATGCTGACCTGGGGTGGCCAGCTGGGGGAGGGGACATACCTAGCACATTGTGAATGGAACTCTGCTGGCTGAACCCTTCCAGACGGTCCAACACACTCCGCATCCTTTTCTGAAGGGAGCTCGATTCCATGAAGGCCCTGCAGGGAGGCCAGCCACATGGTTACGGCTGTCTCCACCCCTCAGGGCTAAGGTGCCCTGAGGCAGAGGGCCAAGTCACTCACCTGGACTGCTGCAGACAGTGCAAGCGGAAGGTGACAGTGCCTGTGGTCTCTGTGCGGAGTCCAAAGCGGCTCAGGCGTTCCCCCTGTGGCATGCCATTGGGACAGCCTCAGGTTTCTGCTCTCTCTAGACACCCCCGCACCATGCTGGCCTCACCCCCATTCTTATTCCCATTCTTGGGAAGCGCAGTTCTGTTGGGGAAACCTTATTCCATCACCCAGACTCTATTACCTCAAGGCTAATACTGGGCTATTGGGCTCCCCCAACTAAACCAGGGAACATTCCAACCTCATTTGAGAAGCGGCGGTCTTATATGCTTACTGTGAATCCTCCCCACATCTGATTACTGAGGCCTTCAGTGATGGGGGAAAGAGCCAGTTATTCTGATGGGAACCAGGGGAAATCTCTAATTATACTATTTTCCAGAGACCTCCTACGATAGCAGTGTAGATATTGGAACCTGATTCAAAATGTGGTCATGACTTCCAGCTTAAGCCACAGGAAGGAAGGGGTTAATACTGAAGCAATGCACAACTAAGGGGTCTTGACCCAGATCCCACCTCCTACAGAAGGACAGGACCATAAGTTCTCAGCGTGAAGTCACTCCAAAGACAAAAGTCACCTTGAAGGATCCTGGTATCCGTACATAGGAGAGGTCCTCCAGTTCCAGAGAACCGCCAATGAAAAACCTCCTCAGCTCAGCCACCGTGCCAAGCTCCACAGGTCTCCACGTGGAGACTGTCAGGGTGTGTGAGCCTGCGCAAGGGAAGAGAAGACTGGGGCCAGGTCCAGAAAGGGCATGTGGCCCCTCACTGACTCCCCAGCAATGACACAGGCCTAGACTCAGCTAAAACACCTGGTCTGGTGATGACCTGGCCTCTGGTGCAGGTTATCATGGTTACCCATAGCACCTGTATGGAAATCAATCAGGGAGAAATTCAAATTTCCGCTCTGCCAGTTATTACCTGCATACCCAGGACAGGTTTCTTAACCTCTCTGAAGCTCATTCTCCTCATCTAGTAAAATGGAAATAATACCACCTGCACCTCACAGAGTGACTGGGAGAATTAAGTGAGAAGTATGGCACAATGCCTGGCACACAGTAAAAGACAGATGCTTTTATTCCAAACTGAATGCTGATTCATTCAATACACATATGCTATGAGCCAATTTTGCCATACAGCTTCTCACCCTGAGTCCAATCAGAGGAGCATGAAGCACATGGAGAGACTGTCAGGAAGTCAGTGCCAAGGCCACGTCATTGTCGCTAATGGAGGGGGGCAGAAAGTCCTCAGAGGAACAGGAACTCTTTCAAGCCAAACATTTCCAATTCCCAATTATCTCCACCCCTCACCAGAAGCATTCGAGTGTTAGTCTTGTTCTTAGGGCCTAGGGCATGTGGGCCACAGAAGGGCAGAGACGAGCGGTTACCTGGAGTGGCAGGCAGCACCACAGCCCCATAGCCTTCCACACGGTACCTCTGCCAGAAGTCCAGCGAGAGGACCTCACAGTAGAGCACAGGCCACTCCGGGAGTGCATCTGGGAGCAAGGAGAGAAGCGGCCAGGTCACAGGCGGCCTTCACCAAGAGACAGCACTGCTTGAGGGGAACCAAGGCCCAGGATCAACTGCTGAGCTACTCACCAGAAGATTCATCCTCATGGAGGAAGAAGGCTTCAAACGTGAATGGGTAGGAGAAGTGAGCCACCTTGTCCTATAAAAAGGAGTGTCATAGGGTGGGCAAGGCCTCCCTTGGAATCTGTTCTCCTTGTGGCCAATGACAAGGTTATCTTCACAAGGGAAAAAGAAAAATTATCACCCAGGTGGGAAATAGGAGTCTGAGATGCAAAAGGACACCCAAATACAAGCTGCTGCCATGCTCAAAAAGACAGACAGGATCTCCGGACCAGGTGGCCCTGTAGAACCCACACACAAGTCACCCAACTCTGGAATCCTCCCCAGGGCGCACAGCACTTGGCCTGATAAAACCTCAAATGCCATCCCAGGAGCAGATCTCATTCCCTTCCAGATACCCGCTCTCATTCTCCATACCATTGCCAGGGACTTGGTGGTGCAGGTCTGTGTTACTCCTGAGAGCTGCTGGAATGCTGGGCTTGACCAGTCTGAAAGCCAAAGACCAAATATAGTAAGCTCGCCTGGGAGGAAAGCAAGTCATTCAGAAAAAGACAGTTTCTTTTTTCTTTTCTTTTTTTTTTTTGTATTTATTGATCATTCTTGGGTGTTTCTCGGAGAGGGGGATGTGGCAGGGTCATAGGATAATAGTGGAGAGAAGGTCAGCAGATAAACACGTGAACAAAGGTCTCTGGTTCTCCTAGGCAGAGGTCCCTGCGGCCTTCCACAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAAGGAGCATGCTGCCTTCAAGCACCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCTTGAGTTGACACAGCACATGTTTCAGAGAGCACGGGGTTGGGGGTAAGGTTATAGATTAACAGCATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGGAGTCTCCTATGTCTACTTCTTTCTACACAGACACAGTAACAATCTGATCTCTCTTTCTTTTCCCCACATTTCCCCCTTTTCTTTTTGACAAAACCGCCATCGTCATCATGGCCCATTCTCAATGGTCGCTGTCTCTTCGGAGCTGTTGGGTACACCTCCCAGATGGGGCGGCCGGGCAGAGGCGCTCCTCACTTCCCAGACGGGGCGGACAGTTTCTTTATTCATTTATTCACACAATCAATCATTCATTTACCATTTACTGAGTGCCTGCTATGTGCTAGTATATCTTAGGGGTATCTTGGTAACTAGATAGAAAAGATCCCCATCTCTCATGGAGCTGACATTCTGGGGGAAGCAGGGAGACAGACAAAAACCAAACCAACAAGAGACTATTGGGTAGTGATGAGTGCTATACTAAAAACAAAACGGGGAAGGGACTGAGTGATTGGGAGGCTCATTTAGACTGGGTGGTAAGAGAAGGCCTCTCAGAGGCGACACAGGCTGAGACCTAAACTCAGAAAGAACCAGCCATGCTAAGATATGGCAGAAAGGGTTTCAGACAAAGGAAACGGCCCTTAAAAGGCTACAAGGTGGGAATGAACCTGGCTGGGAAGAATGACTGGAAGGTTGTATGGAAGAGATAGGCAGGGGCCAGCTCATTCAGGGTATCAAGTTTACATTTTACTCTAAGTGGGAGGGGAAGCTGTTGGGGTTTTCAGCTCAAAAGGGACATAACTTGTTTACATTTTTTAAAGCTCAACTTGGCTTTGGTGTCTGTGGCAAATCAACGGCAAATGGGAGCAAGGCAGGAAGCAGGGGGATACATCAGAAGTTGAATGCACTGGCCTAGACAAGAGATGGTGGTGGCTTGGTGTAGGGTGCTGGAGAGAACAAATAGGTTCACAACAGCTTTTGAAGACAGAACGGACAGGAACTGTTGACAGATTGGCTGGCTATAGGGAGCTAGGGAAAGTGAGGGATCAAGGATGTTCCCTAGGTTTTTGGCATCAACAACTCAGTAGATGACACTGCCATTCTGTTAGGATGGGGAAGACCAGGGAGGAGAGGTTTGAGGGAAGAGGAGGAATCAAGAGTTCTTTTTGGTCATGTTAGACAGAAATGACAAAAGAGGTAACTGGATATGAG | CCAGAGGGGCTCACTAGGTCCTGCGGGAGGCTTTCCCGGGCCTCCTGCATGCGGCGCCGGGCTCGACGGAAGGCCTCTGTAAGGAAAGGAGATATGCTATTTGGCTGCCATATGGTATTTCTCTCTGCACTGCAGAGAGAAACAGGCCCATGCTGACCTGGGGTGGCCAGCTGGGGGAGGGGACATACCTAGCACATTGTGAATGGAACTCTGCTGGCTGAACCCTTCCAGACGGTCCAACACACTCCGCATCCTTTTCTGAAGGGAGCTCGATTCCATGAAGGCCCTGCAGGGAGGCCAGCCACATGGTTACGGCTGTCTCCACCCCTCAGGGCTAAGGTGCCCTGAGGCAGAGGGCCAAGTCACTCACCTGGACTGCTGCAGACAGTGCAAGCGGAAGGTGACAGTGCCTGTGGTCTCTGTGCGGAGTCCAAAGCGGCTCAGGCGTTCCCCCTGTGGCATGCCATTGGGACAGCCTCAGGTTTCTGCTCTCTCTAGACACCCCCGCACCATGCTGGCCTCACCCCCATTCTTATTCCCATTCTTGGGAAGCGCAGTTCTGTTGGGGAAACCTTATTCCATCACCCAGACTCTATTACCTCAAGGCTAATACTGGGCTATTGGGCTCCCCCAACTAAACCAGGGAACATTCCAACCTCATTTGAGAAGCGGCGGTCTTATATGCTTACTGTGAATCCTCCCCACATCTGATTACTGAGGCCTTCAGTGATGGGGGAAAGAGCCAGTTATTCTGATGGGAACCAGGGGAAATCTCTAATTATACTATTTTCCAGAGACCTCCTACGATAGCAGTGTAGATATTGGAACCTGATTCAAAATGTGGTCATGACTTCCAGCTTAAGCCACAGGAAGGAAGGGGTTAATACTGAAGCAATGCACAACTAAGGGGTCTTGACCCAGATCCCACCTCCTACAGAAGGACAGGACCATAAGTTCTCAGCGTGAAGTCACTCCAAAGACAAAAGTCACCTTGAAGGATCCTGGTATCCGTACATAGGAGAGGTCCTCCAGTTCCAGAGAACCGCCAATGAAAAACCTCCTCAGCTCAGCCACCGTGCCAAGCTCCACAGGTCTCCACGTGGAGACTGTCAGGGTGTGTGAGCCTGCGCAAGGGAAGAGAAGACTGGGGCCAGGTCCAGAAAGGGCATGTGGCCCCTCACTGACTCCCCAGCAATGACACAGGCCTAGACTCAGCTAAAACACCTGGTCTGGTGATGACCTGGCCTCTGGTGCAGGTTATCATGGTTACCCATAGCACCTGTATGGAAATCAATCAGGGAGAAATTCAAATTTCCGCTCTGCCAGTTATTACCTGCATACCCAGGACAGGTTTCTTAACCTCTCTGAAGCTCATTCTCCTCATCTAGTAAAATGGAAATAATACCACCTGCACCTCACAGAGTGACTGGGAGAATTAAGTGAGAAGTATGGCACAATGCCTGGCACACAGTAAAAGACAGATGCTTTTATTCCAAACTGAATGCTGATTCATTCAATACACATATGCTATGAGCCAATTTTGCCATACAGCTTCTCACCCTGAGTCCAATCAGAGGAGCATGAAGCACATGGAGAGACTGTCAGGAAGTCAGTGCCAAGGCCACGTCATTGTCGCTAATGGAGGGGGGCAGAAAGTCCTCAGAGGAACAGGAACTCTTTCAAGCCAAACATTTCCAATTCCCAATTATCTCCACCCCTCACCAGAAGCATTCGAGTGTTAGTCTTGTTCTTAGGGCCTAGGGCATGTGGGCCACAGAAGGGCAGAGACGAGCGGTTACCTGGAGTGGCAGGCAGCACCACAGCCCCATAGCCTTCCACACGGTACCTCTGCCAGAAGTCCAGCGAGAGGACCTCACAGTAGAGCACAGGCCACTCCGGGAGTGCATCTGGGAGCAAGGAGAGAAGCGGCCAGGTCACAGGCGGCCTTCACCAAGAGACAGCACTGCTTGAGGGGAACCAAGGCCCAGGATCAACTGCTGAGCTACTCACCAGAAGATTCATCCTCATGGAGGAAGAAGGCTTCAAACGTTGAATGGGTAGGAGAAGTGAGCCACCTTGTCCTATAAAAAGGAGTGTCATAGGGTGGGCAAGGCCTCCCTTGGAATCTGTTCTCCTTGTGGCCAATGACAAGGTTATCTTCACAAGGGAAAAAGAAAAATTATCACCCAGGTGGGAAATAGGAGTCTGAGATGCAAAAGGACACCCAAATACAAGCTGCTGCCATGCTCAAAAAGACAGACAGGATCTCCGGACCAGGTGGCCCTGTAGAACCCACACACAAGTCACCCAACTCTGGAATCCTCCCCAGGGCGCACAGCACTTGGCCTGATAAAACCTCAAATGCCATCCCAGGAGCAGATCTCATTCCCTTCCAGATACCCGCTCTCATTCTCCATACCATTGCCAGGGACTTGGTGGTGCAGGTCTGTGTTACTCCTGAGAGCTGCTGGAATGCTGGGCTTGACCAGTCTGAAAGCCAAAGACCAAATATAGTAAGCTCGCCTGGGAGGAAAGCAAGTCATTCAGAAAAAGACAGTTTCTTTTTTCTTTTCTTTTTTTTTTTTGTATTTATTGATCATTCTTGGGTGTTTCTCGGAGAGGGGGATGTGGCAGGGTCATAGGATAATAGTGGAGAGAAGGTCAGCAGATAAACACGTGAACAAAGGTCTCTGGTTCTCCTAGGCAGAGGTCCCTGCGGCCTTCCACAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAAGGAGCATGCTGCCTTCAAGCACCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCTTGAGTTGACACAGCACATGTTTCAGAGAGCACGGGGTTGGGGGTAAGGTTATAGATTAACAGCATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGGAGTCTCCTATGTCTACTTCTTTCTACACAGACACAGTAACAATCTGATCTCTCTTTCTTTTCCCCACATTTCCCCCTTTTCTTTTTGACAAAACCGCCATCGTCATCATGGCCCATTCTCAATGGTCGCTGTCTCTTCGGAGCTGTTGGGTACACCTCCCAGATGGGGCGGCCGGGCAGAGGCGCTCCTCACTTCCCAGACGGGGCGGACAGTTTCTTTATTCATTTATTCACACAATCAATCATTCATTTACCATTTACTGAGTGCCTGCTATGTGCTAGTATATCTTAGGGGTATCTTGGTAACTAGATAGAAAAGATCCCCATCTCTCATGGAGCTGACATTCTGGGGGAAGCAGGGAGACAGACAAAAACCAAACCAACAAGAGACTATTGGGTAGTGATGAGTGCTATACTAAAAACAAAACGGGGAAGGGACTGAGTGATTGGGAGGCTCATTTAGACTGGGTGGTAAGAGAAGGCCTCTCAGAGGCGACACAGGCTGAGACCTAAACTCAGAAAGAACCAGCCATGCTAAGATATGGCAGAAAGGGTTTCAGACAAAGGAAACGGCCCTTAAAAGGCTACAAGGTGGGAATGAACCTGGCTGGGAAGAATGACTGGAAGGTTGTATGGAAGAGATAGGCAGGGGCCAGCTCATTCAGGGTATCAAGTTTACATTTTACTCTAAGTGGGAGGGGAAGCTGTTGGGGTTTTCAGCTCAAAAGGGACATAACTTGTTTACATTTTTTAAAGCTCAACTTGGCTTTGGTGTCTGTGGCAAATCAACGGCAAATGGGAGCAAGGCAGGAAGCAGGGGGATACATCAGAAGTTGAATGCACTGGCCTAGACAAGAGATGGTGGTGGCTTGGTGTAGGGTGCTGGAGAGAACAAATAGGTTCACAACAGCTTTTGAAGACAGAACGGACAGGAACTGTTGACAGATTGGCTGGCTATAGGGAGCTAGGGAAAGTGAGGGATCAAGGATGTTCCCTAGGTTTTTGGCATCAACAACTCAGTAGATGACACTGCCATTCTGTTAGGATGGGGAAGACCAGGGAGGAGAGGTTTGAGGGAAGAGGAGGAATCAAGAGTTCTTTTTGGTCATGTTAGACAGAAATGACAAAAGAGGTAACTGGATATGA | pathogenic | 279,369 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 58208152, gene MKS1 (MKS transition zone complex subunit 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Bardet-Biedl_syndrome_13', 'Chronic_kidney_disease', 'Familial_aplasia_of_the_vermis', 'Global_developmental_delay', 'Joubert_syndrome_28', 'Limb_undergrowth', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_1', 'Polydactyly', 'Rotary_nystagmus'] | CTCACTAGGTCCTGCGGGAGGCTTTCCCGGGCCTCCTGCATGCGGCGCCGGGCTCGACGGAAGGCCTCTGTAAGGAAAGGAGATATGCTATTTGGCTGCCATATGGTATTTCTCTCTGCACTGCAGAGAGAAACAGGCCCATGCTGACCTGGGGTGGCCAGCTGGGGGAGGGGACATACCTAGCACATTGTGAATGGAACTCTGCTGGCTGAACCCTTCCAGACGGTCCAACACACTCCGCATCCTTTTCTGAAGGGAGCTCGATTCCATGAAGGCCCTGCAGGGAGGCCAGCCACATGGTTACGGCTGTCTCCACCCCTCAGGGCTAAGGTGCCCTGAGGCAGAGGGCCAAGTCACTCACCTGGACTGCTGCAGACAGTGCAAGCGGAAGGTGACAGTGCCTGTGGTCTCTGTGCGGAGTCCAAAGCGGCTCAGGCGTTCCCCCTGTGGCATGCCATTGGGACAGCCTCAGGTTTCTGCTCTCTCTAGACACCCCCGCACCATGCTGGCCTCACCCCCATTCTTATTCCCATTCTTGGGAAGCGCAGTTCTGTTGGGGAAACCTTATTCCATCACCCAGACTCTATTACCTCAAGGCTAATACTGGGCTATTGGGCTCCCCCAACTAAACCAGGGAACATTCCAACCTCATTTGAGAAGCGGCGGTCTTATATGCTTACTGTGAATCCTCCCCACATCTGATTACTGAGGCCTTCAGTGATGGGGGAAAGAGCCAGTTATTCTGATGGGAACCAGGGGAAATCTCTAATTATACTATTTTCCAGAGACCTCCTACGATAGCAGTGTAGATATTGGAACCTGATTCAAAATGTGGTCATGACTTCCAGCTTAAGCCACAGGAAGGAAGGGGTTAATACTGAAGCAATGCACAACTAAGGGGTCTTGACCCAGATCCCACCTCCTACAGAAGGACAGGACCATAAGTTCTCAGCGTGAAGTCACTCCAAAGACAAAAGTCACCTTGAAGGATCCTGGTATCCGTACATAGGAGAGGTCCTCCAGTTCCAGAGAACCGCCAATGAAAAACCTCCTCAGCTCAGCCACCGTGCCAAGCTCCACAGGTCTCCACGTGGAGACTGTCAGGGTGTGTGAGCCTGCGCAAGGGAAGAGAAGACTGGGGCCAGGTCCAGAAAGGGCATGTGGCCCCTCACTGACTCCCCAGCAATGACACAGGCCTAGACTCAGCTAAAACACCTGGTCTGGTGATGACCTGGCCTCTGGTGCAGGTTATCATGGTTACCCATAGCACCTGTATGGAAATCAATCAGGGAGAAATTCAAATTTCCGCTCTGCCAGTTATTACCTGCATACCCAGGACAGGTTTCTTAACCTCTCTGAAGCTCATTCTCCTCATCTAGTAAAATGGAAATAATACCACCTGCACCTCACAGAGTGACTGGGAGAATTAAGTGAGAAGTATGGCACAATGCCTGGCACACAGTAAAAGACAGATGCTTTTATTCCAAACTGAATGCTGATTCATTCAATACACATATGCTATGAGCCAATTTTGCCATACAGCTTCTCACCCTGAGTCCAATCAGAGGAGCATGAAGCACATGGAGAGACTGTCAGGAAGTCAGTGCCAAGGCCACGTCATTGTCGCTAATGGAGGGGGGCAGAAAGTCCTCAGAGGAACAGGAACTCTTTCAAGCCAAACATTTCCAATTCCCAATTATCTCCACCCCTCACCAGAAGCATTCGAGTGTTAGTCTTGTTCTTAGGGCCTAGGGCATGTGGGCCACAGAAGGGCAGAGACGAGCGGTTACCTGGAGTGGCAGGCAGCACCACAGCCCCATAGCCTTCCACACGGTACCTCTGCCAGAAGTCCAGCGAGAGGACCTCACAGTAGAGCACAGGCCACTCCGGGAGTGCATCTGGGAGCAAGGAGAGAAGCGGCCAGGTCACAGGCGGCCTTCACCAAGAGACAGCACTGCTTGAGGGGAACCAAGGCCCAGGATCAACTGCTGAGCTACTCACCAGAAGATTCATCCTCATGGAGGAAGAAGGCTTCAAACGTGAATGGGTAGGAGAAGTGAGCCACCTTGTCCTATAAAAAGGAGTGTCATAGGGTGGGCAAGGCCTCCCTTGGAATCTGTTCTCCTTGTGGCCAATGACAAGGTTATCTTCACAAGGGAAAAAGAAAAATTATCACCCAGGTGGGAAATAGGAGTCTGAGATGCAAAAGGACACCCAAATACAAGCTGCTGCCATGCTCAAAAAGACAGACAGGATCTCCGGACCAGGTGGCCCTGTAGAACCCACACACAAGTCACCCAACTCTGGAATCCTCCCCAGGGCGCACAGCACTTGGCCTGATAAAACCTCAAATGCCATCCCAGGAGCAGATCTCATTCCCTTCCAGATACCCGCTCTCATTCTCCATACCATTGCCAGGGACTTGGTGGTGCAGGTCTGTGTTACTCCTGAGAGCTGCTGGAATGCTGGGCTTGACCAGTCTGAAAGCCAAAGACCAAATATAGTAAGCTCGCCTGGGAGGAAAGCAAGTCATTCAGAAAAAGACAGTTTCTTTTTTCTTTTCTTTTTTTTTTTTGTATTTATTGATCATTCTTGGGTGTTTCTCGGAGAGGGGGATGTGGCAGGGTCATAGGATAATAGTGGAGAGAAGGTCAGCAGATAAACACGTGAACAAAGGTCTCTGGTTCTCCTAGGCAGAGGTCCCTGCGGCCTTCCACAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAAGGAGCATGCTGCCTTCAAGCACCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCTTGAGTTGACACAGCACATGTTTCAGAGAGCACGGGGTTGGGGGTAAGGTTATAGATTAACAGCATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGGAGTCTCCTATGTCTACTTCTTTCTACACAGACACAGTAACAATCTGATCTCTCTTTCTTTTCCCCACATTTCCCCCTTTTCTTTTTGACAAAACCGCCATCGTCATCATGGCCCATTCTCAATGGTCGCTGTCTCTTCGGAGCTGTTGGGTACACCTCCCAGATGGGGCGGCCGGGCAGAGGCGCTCCTCACTTCCCAGACGGGGCGGACAGTTTCTTTATTCATTTATTCACACAATCAATCATTCATTTACCATTTACTGAGTGCCTGCTATGTGCTAGTATATCTTAGGGGTATCTTGGTAACTAGATAGAAAAGATCCCCATCTCTCATGGAGCTGACATTCTGGGGGAAGCAGGGAGACAGACAAAAACCAAACCAACAAGAGACTATTGGGTAGTGATGAGTGCTATACTAAAAACAAAACGGGGAAGGGACTGAGTGATTGGGAGGCTCATTTAGACTGGGTGGTAAGAGAAGGCCTCTCAGAGGCGACACAGGCTGAGACCTAAACTCAGAAAGAACCAGCCATGCTAAGATATGGCAGAAAGGGTTTCAGACAAAGGAAACGGCCCTTAAAAGGCTACAAGGTGGGAATGAACCTGGCTGGGAAGAATGACTGGAAGGTTGTATGGAAGAGATAGGCAGGGGCCAGCTCATTCAGGGTATCAAGTTTACATTTTACTCTAAGTGGGAGGGGAAGCTGTTGGGGTTTTCAGCTCAAAAGGGACATAACTTGTTTACATTTTTTAAAGCTCAACTTGGCTTTGGTGTCTGTGGCAAATCAACGGCAAATGGGAGCAAGGCAGGAAGCAGGGGGATACATCAGAAGTTGAATGCACTGGCCTAGACAAGAGATGGTGGTGGCTTGGTGTAGGGTGCTGGAGAGAACAAATAGGTTCACAACAGCTTTTGAAGACAGAACGGACAGGAACTGTTGACAGATTGGCTGGCTATAGGGAGCTAGGGAAAGTGAGGGATCAAGGATGTTCCCTAGGTTTTTGGCATCAACAACTCAGTAGATGACACTGCCATTCTGTTAGGATGGGGAAGACCAGGGAGGAGAGGTTTGAGGGAAGAGGAGGAATCAAGAGTTCTTTTTGGTCATGTTAGACAGAAATGACAAAAGAGGTAACTGGATATGAGTCTGGAGTC | CTCACTAGGTCCTGCGGGAGGCTTTCCCGGGCCTCCTGCATGCGGCGCCGGGCTCGACGGAAGGCCTCTGTAAGGAAAGGAGATATGCTATTTGGCTGCCATATGGTATTTCTCTCTGCACTGCAGAGAGAAACAGGCCCATGCTGACCTGGGGTGGCCAGCTGGGGGAGGGGACATACCTAGCACATTGTGAATGGAACTCTGCTGGCTGAACCCTTCCAGACGGTCCAACACACTCCGCATCCTTTTCTGAAGGGAGCTCGATTCCATGAAGGCCCTGCAGGGAGGCCAGCCACATGGTTACGGCTGTCTCCACCCCTCAGGGCTAAGGTGCCCTGAGGCAGAGGGCCAAGTCACTCACCTGGACTGCTGCAGACAGTGCAAGCGGAAGGTGACAGTGCCTGTGGTCTCTGTGCGGAGTCCAAAGCGGCTCAGGCGTTCCCCCTGTGGCATGCCATTGGGACAGCCTCAGGTTTCTGCTCTCTCTAGACACCCCCGCACCATGCTGGCCTCACCCCCATTCTTATTCCCATTCTTGGGAAGCGCAGTTCTGTTGGGGAAACCTTATTCCATCACCCAGACTCTATTACCTCAAGGCTAATACTGGGCTATTGGGCTCCCCCAACTAAACCAGGGAACATTCCAACCTCATTTGAGAAGCGGCGGTCTTATATGCTTACTGTGAATCCTCCCCACATCTGATTACTGAGGCCTTCAGTGATGGGGGAAAGAGCCAGTTATTCTGATGGGAACCAGGGGAAATCTCTAATTATACTATTTTCCAGAGACCTCCTACGATAGCAGTGTAGATATTGGAACCTGATTCAAAATGTGGTCATGACTTCCAGCTTAAGCCACAGGAAGGAAGGGGTTAATACTGAAGCAATGCACAACTAAGGGGTCTTGACCCAGATCCCACCTCCTACAGAAGGACAGGACCATAAGTTCTCAGCGTGAAGTCACTCCAAAGACAAAAGTCACCTTGAAGGATCCTGGTATCCGTACATAGGAGAGGTCCTCCAGTTCCAGAGAACCGCCAATGAAAAACCTCCTCAGCTCAGCCACCGTGCCAAGCTCCACAGGTCTCCACGTGGAGACTGTCAGGGTGTGTGAGCCTGCGCAAGGGAAGAGAAGACTGGGGCCAGGTCCAGAAAGGGCATGTGGCCCCTCACTGACTCCCCAGCAATGACACAGGCCTAGACTCAGCTAAAACACCTGGTCTGGTGATGACCTGGCCTCTGGTGCAGGTTATCATGGTTACCCATAGCACCTGTATGGAAATCAATCAGGGAGAAATTCAAATTTCCGCTCTGCCAGTTATTACCTGCATACCCAGGACAGGTTTCTTAACCTCTCTGAAGCTCATTCTCCTCATCTAGTAAAATGGAAATAATACCACCTGCACCTCACAGAGTGACTGGGAGAATTAAGTGAGAAGTATGGCACAATGCCTGGCACACAGTAAAAGACAGATGCTTTTATTCCAAACTGAATGCTGATTCATTCAATACACATATGCTATGAGCCAATTTTGCCATACAGCTTCTCACCCTGAGTCCAATCAGAGGAGCATGAAGCACATGGAGAGACTGTCAGGAAGTCAGTGCCAAGGCCACGTCATTGTCGCTAATGGAGGGGGGCAGAAAGTCCTCAGAGGAACAGGAACTCTTTCAAGCCAAACATTTCCAATTCCCAATTATCTCCACCCCTCACCAGAAGCATTCGAGTGTTAGTCTTGTTCTTAGGGCCTAGGGCATGTGGGCCACAGAAGGGCAGAGACGAGCGGTTACCTGGAGTGGCAGGCAGCACCACAGCCCCATAGCCTTCCACACGGTACCTCTGCCAGAAGTCCAGCGAGAGGACCTCACAGTAGAGCACAGGCCACTCCGGGAGTGCATCTGGGAGCAAGGAGAGAAGCGGCCAGGTCACAGGCGGCCTTCACCAAGAGACAGCACTGCTTGAGGGGAACCAAGGCCCAGGATCAACTGCTGAGCTACTCACCAGAAGATTCATCCTCATGGAGGAAGAAGGCTTCAAACGTGAATGGGTAGAAGTGAGCCACCTTGTCCTATAAAAAGGAGTGTCATAGGGTGGGCAAGGCCTCCCTTGGAATCTGTTCTCCTTGTGGCCAATGACAAGGTTATCTTCACAAGGGAAAAAGAAAAATTATCACCCAGGTGGGAAATAGGAGTCTGAGATGCAAAAGGACACCCAAATACAAGCTGCTGCCATGCTCAAAAAGACAGACAGGATCTCCGGACCAGGTGGCCCTGTAGAACCCACACACAAGTCACCCAACTCTGGAATCCTCCCCAGGGCGCACAGCACTTGGCCTGATAAAACCTCAAATGCCATCCCAGGAGCAGATCTCATTCCCTTCCAGATACCCGCTCTCATTCTCCATACCATTGCCAGGGACTTGGTGGTGCAGGTCTGTGTTACTCCTGAGAGCTGCTGGAATGCTGGGCTTGACCAGTCTGAAAGCCAAAGACCAAATATAGTAAGCTCGCCTGGGAGGAAAGCAAGTCATTCAGAAAAAGACAGTTTCTTTTTTCTTTTCTTTTTTTTTTTTGTATTTATTGATCATTCTTGGGTGTTTCTCGGAGAGGGGGATGTGGCAGGGTCATAGGATAATAGTGGAGAGAAGGTCAGCAGATAAACACGTGAACAAAGGTCTCTGGTTCTCCTAGGCAGAGGTCCCTGCGGCCTTCCACAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAAGGAGCATGCTGCCTTCAAGCACCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCTTGAGTTGACACAGCACATGTTTCAGAGAGCACGGGGTTGGGGGTAAGGTTATAGATTAACAGCATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGGAGTCTCCTATGTCTACTTCTTTCTACACAGACACAGTAACAATCTGATCTCTCTTTCTTTTCCCCACATTTCCCCCTTTTCTTTTTGACAAAACCGCCATCGTCATCATGGCCCATTCTCAATGGTCGCTGTCTCTTCGGAGCTGTTGGGTACACCTCCCAGATGGGGCGGCCGGGCAGAGGCGCTCCTCACTTCCCAGACGGGGCGGACAGTTTCTTTATTCATTTATTCACACAATCAATCATTCATTTACCATTTACTGAGTGCCTGCTATGTGCTAGTATATCTTAGGGGTATCTTGGTAACTAGATAGAAAAGATCCCCATCTCTCATGGAGCTGACATTCTGGGGGAAGCAGGGAGACAGACAAAAACCAAACCAACAAGAGACTATTGGGTAGTGATGAGTGCTATACTAAAAACAAAACGGGGAAGGGACTGAGTGATTGGGAGGCTCATTTAGACTGGGTGGTAAGAGAAGGCCTCTCAGAGGCGACACAGGCTGAGACCTAAACTCAGAAAGAACCAGCCATGCTAAGATATGGCAGAAAGGGTTTCAGACAAAGGAAACGGCCCTTAAAAGGCTACAAGGTGGGAATGAACCTGGCTGGGAAGAATGACTGGAAGGTTGTATGGAAGAGATAGGCAGGGGCCAGCTCATTCAGGGTATCAAGTTTACATTTTACTCTAAGTGGGAGGGGAAGCTGTTGGGGTTTTCAGCTCAAAAGGGACATAACTTGTTTACATTTTTTAAAGCTCAACTTGGCTTTGGTGTCTGTGGCAAATCAACGGCAAATGGGAGCAAGGCAGGAAGCAGGGGGATACATCAGAAGTTGAATGCACTGGCCTAGACAAGAGATGGTGGTGGCTTGGTGTAGGGTGCTGGAGAGAACAAATAGGTTCACAACAGCTTTTGAAGACAGAACGGACAGGAACTGTTGACAGATTGGCTGGCTATAGGGAGCTAGGGAAAGTGAGGGATCAAGGATGTTCCCTAGGTTTTTGGCATCAACAACTCAGTAGATGACACTGCCATTCTGTTAGGATGGGGAAGACCAGGGAGGAGAGGTTTGAGGGAAGAGGAGGAATCAAGAGTTCTTTTTGGTCATGTTAGACAGAAATGACAAAAGAGGTAACTGGATATGAGTCTGGAGTCNNN | pathogenic | 279,370 |
Clinical classification of chromosome 17, position 58208536, gene MKS1 (MKS transition zone complex subunit 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Bardet-Biedl_syndrome_13', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_28', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_1'] | GCGGAAGGTGACAGTGCCTGTGGTCTCTGTGCGGAGTCCAAAGCGGCTCAGGCGTTCCCCCTGTGGCATGCCATTGGGACAGCCTCAGGTTTCTGCTCTCTCTAGACACCCCCGCACCATGCTGGCCTCACCCCCATTCTTATTCCCATTCTTGGGAAGCGCAGTTCTGTTGGGGAAACCTTATTCCATCACCCAGACTCTATTACCTCAAGGCTAATACTGGGCTATTGGGCTCCCCCAACTAAACCAGGGAACATTCCAACCTCATTTGAGAAGCGGCGGTCTTATATGCTTACTGTGAATCCTCCCCACATCTGATTACTGAGGCCTTCAGTGATGGGGGAAAGAGCCAGTTATTCTGATGGGAACCAGGGGAAATCTCTAATTATACTATTTTCCAGAGACCTCCTACGATAGCAGTGTAGATATTGGAACCTGATTCAAAATGTGGTCATGACTTCCAGCTTAAGCCACAGGAAGGAAGGGGTTAATACTGAAGCAATGCACAACTAAGGGGTCTTGACCCAGATCCCACCTCCTACAGAAGGACAGGACCATAAGTTCTCAGCGTGAAGTCACTCCAAAGACAAAAGTCACCTTGAAGGATCCTGGTATCCGTACATAGGAGAGGTCCTCCAGTTCCAGAGAACCGCCAATGAAAAACCTCCTCAGCTCAGCCACCGTGCCAAGCTCCACAGGTCTCCACGTGGAGACTGTCAGGGTGTGTGAGCCTGCGCAAGGGAAGAGAAGACTGGGGCCAGGTCCAGAAAGGGCATGTGGCCCCTCACTGACTCCCCAGCAATGACACAGGCCTAGACTCAGCTAAAACACCTGGTCTGGTGATGACCTGGCCTCTGGTGCAGGTTATCATGGTTACCCATAGCACCTGTATGGAAATCAATCAGGGAGAAATTCAAATTTCCGCTCTGCCAGTTATTACCTGCATACCCAGGACAGGTTTCTTAACCTCTCTGAAGCTCATTCTCCTCATCTAGTAAAATGGAAATAATACCACCTGCACCTCACAGAGTGACTGGGAGAATTAAGTGAGAAGTATGGCACAATGCCTGGCACACAGTAAAAGACAGATGCTTTTATTCCAAACTGAATGCTGATTCATTCAATACACATATGCTATGAGCCAATTTTGCCATACAGCTTCTCACCCTGAGTCCAATCAGAGGAGCATGAAGCACATGGAGAGACTGTCAGGAAGTCAGTGCCAAGGCCACGTCATTGTCGCTAATGGAGGGGGGCAGAAAGTCCTCAGAGGAACAGGAACTCTTTCAAGCCAAACATTTCCAATTCCCAATTATCTCCACCCCTCACCAGAAGCATTCGAGTGTTAGTCTTGTTCTTAGGGCCTAGGGCATGTGGGCCACAGAAGGGCAGAGACGAGCGGTTACCTGGAGTGGCAGGCAGCACCACAGCCCCATAGCCTTCCACACGGTACCTCTGCCAGAAGTCCAGCGAGAGGACCTCACAGTAGAGCACAGGCCACTCCGGGAGTGCATCTGGGAGCAAGGAGAGAAGCGGCCAGGTCACAGGCGGCCTTCACCAAGAGACAGCACTGCTTGAGGGGAACCAAGGCCCAGGATCAACTGCTGAGCTACTCACCAGAAGATTCATCCTCATGGAGGAAGAAGGCTTCAAACGTGAATGGGTAGGAGAAGTGAGCCACCTTGTCCTATAAAAAGGAGTGTCATAGGGTGGGCAAGGCCTCCCTTGGAATCTGTTCTCCTTGTGGCCAATGACAAGGTTATCTTCACAAGGGAAAAAGAAAAATTATCACCCAGGTGGGAAATAGGAGTCTGAGATGCAAAAGGACACCCAAATACAAGCTGCTGCCATGCTCAAAAAGACAGACAGGATCTCCGGACCAGGTGGCCCTGTAGAACCCACACACAAGTCACCCAACTCTGGAATCCTCCCCAGGGCGCACAGCACTTGGCCTGATAAAACCTCAAATGCCATCCCAGGAGCAGATCTCATTCCCTTCCAGATACCCGCTCTCATTCTCCATACCATTGCCAGGGACTTGGTGGTGCAGGTCTGTGTTACTCCTGAGAGCTGCTGGAATGCTGGGCTTGACCAGTCTGAAAGCCAAAGACCAAATATAGTAAGCTCGCCTGGGAGGAAAGCAAGTCATTCAGAAAAAGACAGTTTCTTTTTTCTTTTCTTTTTTTTTTTTGTATTTATTGATCATTCTTGGGTGTTTCTCGGAGAGGGGGATGTGGCAGGGTCATAGGATAATAGTGGAGAGAAGGTCAGCAGATAAACACGTGAACAAAGGTCTCTGGTTCTCCTAGGCAGAGGTCCCTGCGGCCTTCCACAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAAGGAGCATGCTGCCTTCAAGCACCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCTTGAGTTGACACAGCACATGTTTCAGAGAGCACGGGGTTGGGGGTAAGGTTATAGATTAACAGCATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGGAGTCTCCTATGTCTACTTCTTTCTACACAGACACAGTAACAATCTGATCTCTCTTTCTTTTCCCCACATTTCCCCCTTTTCTTTTTGACAAAACCGCCATCGTCATCATGGCCCATTCTCAATGGTCGCTGTCTCTTCGGAGCTGTTGGGTACACCTCCCAGATGGGGCGGCCGGGCAGAGGCGCTCCTCACTTCCCAGACGGGGCGGACAGTTTCTTTATTCATTTATTCACACAATCAATCATTCATTTACCATTTACTGAGTGCCTGCTATGTGCTAGTATATCTTAGGGGTATCTTGGTAACTAGATAGAAAAGATCCCCATCTCTCATGGAGCTGACATTCTGGGGGAAGCAGGGAGACAGACAAAAACCAAACCAACAAGAGACTATTGGGTAGTGATGAGTGCTATACTAAAAACAAAACGGGGAAGGGACTGAGTGATTGGGAGGCTCATTTAGACTGGGTGGTAAGAGAAGGCCTCTCAGAGGCGACACAGGCTGAGACCTAAACTCAGAAAGAACCAGCCATGCTAAGATATGGCAGAAAGGGTTTCAGACAAAGGAAACGGCCCTTAAAAGGCTACAAGGTGGGAATGAACCTGGCTGGGAAGAATGACTGGAAGGTTGTATGGAAGAGATAGGCAGGGGCCAGCTCATTCAGGGTATCAAGTTTACATTTTACTCTAAGTGGGAGGGGAAGCTGTTGGGGTTTTCAGCTCAAAAGGGACATAACTTGTTTACATTTTTTAAAGCTCAACTTGGCTTTGGTGTCTGTGGCAAATCAACGGCAAATGGGAGCAAGGCAGGAAGCAGGGGGATACATCAGAAGTTGAATGCACTGGCCTAGACAAGAGATGGTGGTGGCTTGGTGTAGGGTGCTGGAGAGAACAAATAGGTTCACAACAGCTTTTGAAGACAGAACGGACAGGAACTGTTGACAGATTGGCTGGCTATAGGGAGCTAGGGAAAGTGAGGGATCAAGGATGTTCCCTAGGTTTTTGGCATCAACAACTCAGTAGATGACACTGCCATTCTGTTAGGATGGGGAAGACCAGGGAGGAGAGGTTTGAGGGAAGAGGAGGAATCAAGAGTTCTTTTTGGTCATGTTAGACAGAAATGACAAAAGAGGTAACTGGATATGAGTCTGGAGTCCAGGGAAAAGGTTAAGGCTAGAGGCAGAAACCTGGGAGTCTGAGACGTATTGATGGTATTTAAGCCATAGGATGGATGACGTTGCCCAGGAAGACTGCAGACAGAGAGTAACAGAAGGCCTTGGCTTAGCTGTGGGTACTCTCACGGTTTAAGATCAACAGAAGGGAAGGCATCACCCAAGAAGGATGAGGGGCCACCAGCGAGATAGGAGAGAGAAGTGTGGAGCCAGAAGCCAGAGAAGTGTGTCATGCAGCACAGTGGGCTCTGGAAAATGCTTCAGGAAGGTCAAGCGAGGTGAAAGCAGGGAAGTCTCCACTGGGTTTGGTAAAGTGGATGTGATCTATGACCTTGAAAAGAACAGTAACAGTTTCAGCAGAGGAGTGG | GCGGAAGGTGACAGTGCCTGTGGTCTCTGTGCGGAGTCCAAAGCGGCTCAGGCGTTCCCCCTGTGGCATGCCATTGGGACAGCCTCAGGTTTCTGCTCTCTCTAGACACCCCCGCACCATGCTGGCCTCACCCCCATTCTTATTCCCATTCTTGGGAAGCGCAGTTCTGTTGGGGAAACCTTATTCCATCACCCAGACTCTATTACCTCAAGGCTAATACTGGGCTATTGGGCTCCCCCAACTAAACCAGGGAACATTCCAACCTCATTTGAGAAGCGGCGGTCTTATATGCTTACTGTGAATCCTCCCCACATCTGATTACTGAGGCCTTCAGTGATGGGGGAAAGAGCCAGTTATTCTGATGGGAACCAGGGGAAATCTCTAATTATACTATTTTCCAGAGACCTCCTACGATAGCAGTGTAGATATTGGAACCTGATTCAAAATGTGGTCATGACTTCCAGCTTAAGCCACAGGAAGGAAGGGGTTAATACTGAAGCAATGCACAACTAAGGGGTCTTGACCCAGATCCCACCTCCTACAGAAGGACAGGACCATAAGTTCTCAGCGTGAAGTCACTCCAAAGACAAAAGTCACCTTGAAGGATCCTGGTATCCGTACATAGGAGAGGTCCTCCAGTTCCAGAGAACCGCCAATGAAAAACCTCCTCAGCTCAGCCACCGTGCCAAGCTCCACAGGTCTCCACGTGGAGACTGTCAGGGTGTGTGAGCCTGCGCAAGGGAAGAGAAGACTGGGGCCAGGTCCAGAAAGGGCATGTGGCCCCTCACTGACTCCCCAGCAATGACACAGGCCTAGACTCAGCTAAAACACCTGGTCTGGTGATGACCTGGCCTCTGGTGCAGGTTATCATGGTTACCCATAGCACCTGTATGGAAATCAATCAGGGAGAAATTCAAATTTCCGCTCTGCCAGTTATTACCTGCATACCCAGGACAGGTTTCTTAACCTCTCTGAAGCTCATTCTCCTCATCTAGTAAAATGGAAATAATACCACCTGCACCTCACAGAGTGACTGGGAGAATTAAGTGAGAAGTATGGCACAATGCCTGGCACACAGTAAAAGACAGATGCTTTTATTCCAAACTGAATGCTGATTCATTCAATACACATATGCTATGAGCCAATTTTGCCATACAGCTTCTCACCCTGAGTCCAATCAGAGGAGCATGAAGCACATGGAGAGACTGTCAGGAAGTCAGTGCCAAGGCCACGTCATTGTCGCTAATGGAGGGGGGCAGAAAGTCCTCAGAGGAACAGGAACTCTTTCAAGCCAAACATTTCCAATTCCCAATTATCTCCACCCCTCACCAGAAGCATTCGAGTGTTAGTCTTGTTCTTAGGGCCTAGGGCATGTGGGCCACAGAAGGGCAGAGACGAGCGGTTACCTGGAGTGGCAGGCAGCACCACAGCCCCATAGCCTTCCACACGGTACCTCTGCCAGAAGTCCAGCGAGAGGACCTCACAGTAGAGCACAGGCCACTCCGGGAGTGCATCTGGGAGCAAGGAGAGAAGCGGCCAGGTCACAGGCGGCCTTCACCAAGAGACAGCACTGCTTGAGGGGAACCAAGGCCCAGGATCAACTGCTGAGCTACTCACCAGAAGATTCATCCTCATGGAGGAAGAAGGCTTCAAACGTGAATGGGTAGGAGAAGTGAGCCACCTTGTCCTATAAAAAGGAGTGTCATAGGGTGGGCAAGGCCTCCCTTGGAATCTGTTCTCCTTGTGGCCAATGACAAGGTTATCTTCACAAGGGAAAAAGAAAAATTATCACCCAGGTGGGAAATAGGAGTCTGAGATGCAAAAGGACACCCAAATACAAGCTGCTGCCATGCTCAAAAAGACAGACAGGATCTCCGGACCAGGTGGCCCTGTAGAACCCACACACAAGTCACCCAACTCTGGAATCCTCCCCAGGGCGCACAGCACTTGGCCTGATAAAACCTCAAATGCCATCCCAGGAGCAGATCTCATTCCCTTCCAGATACCCGCTCTCATTCTCCATACCATTGCCAGGGACTTGGTGGTGCAGTCTGTGTTACTCCTGAGAGCTGCTGGAATGCTGGGCTTGACCAGTCTGAAAGCCAAAGACCAAATATAGTAAGCTCGCCTGGGAGGAAAGCAAGTCATTCAGAAAAAGACAGTTTCTTTTTTCTTTTCTTTTTTTTTTTTGTATTTATTGATCATTCTTGGGTGTTTCTCGGAGAGGGGGATGTGGCAGGGTCATAGGATAATAGTGGAGAGAAGGTCAGCAGATAAACACGTGAACAAAGGTCTCTGGTTCTCCTAGGCAGAGGTCCCTGCGGCCTTCCACAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAAGGAGCATGCTGCCTTCAAGCACCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCTTGAGTTGACACAGCACATGTTTCAGAGAGCACGGGGTTGGGGGTAAGGTTATAGATTAACAGCATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGGAGTCTCCTATGTCTACTTCTTTCTACACAGACACAGTAACAATCTGATCTCTCTTTCTTTTCCCCACATTTCCCCCTTTTCTTTTTGACAAAACCGCCATCGTCATCATGGCCCATTCTCAATGGTCGCTGTCTCTTCGGAGCTGTTGGGTACACCTCCCAGATGGGGCGGCCGGGCAGAGGCGCTCCTCACTTCCCAGACGGGGCGGACAGTTTCTTTATTCATTTATTCACACAATCAATCATTCATTTACCATTTACTGAGTGCCTGCTATGTGCTAGTATATCTTAGGGGTATCTTGGTAACTAGATAGAAAAGATCCCCATCTCTCATGGAGCTGACATTCTGGGGGAAGCAGGGAGACAGACAAAAACCAAACCAACAAGAGACTATTGGGTAGTGATGAGTGCTATACTAAAAACAAAACGGGGAAGGGACTGAGTGATTGGGAGGCTCATTTAGACTGGGTGGTAAGAGAAGGCCTCTCAGAGGCGACACAGGCTGAGACCTAAACTCAGAAAGAACCAGCCATGCTAAGATATGGCAGAAAGGGTTTCAGACAAAGGAAACGGCCCTTAAAAGGCTACAAGGTGGGAATGAACCTGGCTGGGAAGAATGACTGGAAGGTTGTATGGAAGAGATAGGCAGGGGCCAGCTCATTCAGGGTATCAAGTTTACATTTTACTCTAAGTGGGAGGGGAAGCTGTTGGGGTTTTCAGCTCAAAAGGGACATAACTTGTTTACATTTTTTAAAGCTCAACTTGGCTTTGGTGTCTGTGGCAAATCAACGGCAAATGGGAGCAAGGCAGGAAGCAGGGGGATACATCAGAAGTTGAATGCACTGGCCTAGACAAGAGATGGTGGTGGCTTGGTGTAGGGTGCTGGAGAGAACAAATAGGTTCACAACAGCTTTTGAAGACAGAACGGACAGGAACTGTTGACAGATTGGCTGGCTATAGGGAGCTAGGGAAAGTGAGGGATCAAGGATGTTCCCTAGGTTTTTGGCATCAACAACTCAGTAGATGACACTGCCATTCTGTTAGGATGGGGAAGACCAGGGAGGAGAGGTTTGAGGGAAGAGGAGGAATCAAGAGTTCTTTTTGGTCATGTTAGACAGAAATGACAAAAGAGGTAACTGGATATGAGTCTGGAGTCCAGGGAAAAGGTTAAGGCTAGAGGCAGAAACCTGGGAGTCTGAGACGTATTGATGGTATTTAAGCCATAGGATGGATGACGTTGCCCAGGAAGACTGCAGACAGAGAGTAACAGAAGGCCTTGGCTTAGCTGTGGGTACTCTCACGGTTTAAGATCAACAGAAGGGAAGGCATCACCCAAGAAGGATGAGGGGCCACCAGCGAGATAGGAGAGAGAAGTGTGGAGCCAGAAGCCAGAGAAGTGTGTCATGCAGCACAGTGGGCTCTGGAAAATGCTTCAGGAAGGTCAAGCGAGGTGAAAGCAGGGAAGTCTCCACTGGGTTTGGTAAAGTGGATGTGATCTATGACCTTGAAAAGAACAGTAACAGTTTCAGCAGAGGAGTGGN | pathogenic | 279,373 |
Considering the genetic mutation at chromosome 17, position 58212356, impacting MKS1 (MKS transition zone complex subunit 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TAACAGAAGGCCTTGGCTTAGCTGTGGGTACTCTCACGGTTTAAGATCAACAGAAGGGAAGGCATCACCCAAGAAGGATGAGGGGCCACCAGCGAGATAGGAGAGAGAAGTGTGGAGCCAGAAGCCAGAGAAGTGTGTCATGCAGCACAGTGGGCTCTGGAAAATGCTTCAGGAAGGTCAAGCGAGGTGAAAGCAGGGAAGTCTCCACTGGGTTTGGTAAAGTGGATGTGATCTATGACCTTGAAAAGAACAGTAACAGTTTCAGCAGAGGAGTGGGAAAGGAAGCCTGACCAAATGCCTCTAGATCTGTCTGAATGGGTATAAAAGGAGAGACTTAAGAATATTACTTACGAGCAGTTGGCAATTCTACAAAGAAGTGGACGTAGAGATTGTCATACTCATAGCCTTGGGCTGAAACTACGAGAGAAAACAGGAAGCTATTTTAGCTTTTTCTCCTACCACCCTTAGCACCCAACCCAATCCTGAGGGGCCTACACACCCTGAGAGCAAGTCTTTTGAGGGCCAGGAACCCTCTGCGTTTCCAGGAAAGACTCACCACTGAGTTTCCCAAGTACAGCAGACAAGGCCTCTACCAGAGTGGAGGAGACTATTCACAGCTCCATCTAGGCACGTGCCTAAGCATCAAGAGATCTATGCTAGCAAGACACTTACCGACCTCTCCATTTACAAAGAGCCGGAGGGCACCTGGGACAGTCTAAGGTGAAGAGAAGTGGGAAAGGATCAGCAGGCCTGGAGGGAATTGGCACTTCTCCTCCAGCCCCATCTACAAATCTGCAGACGACCTGCCACTAGGGGTCAGGCCCTGGGTGTCACTACTGCACTTTCTCCCCACCCTGACACTTCTCCACAGATCTGTTTCCTTCATTCCTAAGATTCACAATGTAGGGGGAAAGTACATAATTTAAATGGCAGTGAGGACAATGCACTATGGGAAATTATTCAAGCAACAGCAACTGTCCTGTGGTGTGCAATGGGAAGCCAGAACGCCCTCTTCCCTTTAGATGGCTGAGGTCAAGAAACCAGGGAGTTTTCTTTTTTAATTATTTGTGCATGTCTTATCTAACTTTTAAATACTGAATATCTGTTGCTTATGCAATATGGAAATAGTGAAGGTTAATTTTTCAGAGAAAGAGAGGGAGACCAGGAAGTAATTCTATCCTTGTTTCCAGGTCTAGAGATAGAACTCTTAGAATGAGAAAAGACAAAGAACAGCACAACAGAATAGCTGAACTAAACCACTTTCTTTTTTTTTCAGACAGGGTCTTGATCTGTTGTCCAGGCTGGAATGCAGTGGTGTGATCATAGCTCAATGCAAACTCAAACTTCTAGGCTCAAGCAATCCTGCTGCCTCAGCATCATGAGTAGCTGGGACTACAGGTATGTATCACCATGCCTTGCTAATTTTTTTTTTTTTTTTTGTAGGGATGTGGTCTCACTATGTTGCCCAGGCTGCTCTCAAACTCCTGGCTTCAAGTGATCCTCCCACCTTGGCCTCACAAAGTGCTGGGATTATAGTCATGCGCCACCGCATCAGGCCTATATTTTTTAAGAGCCAAAATATGTGACAAACAGAAATGGCACCCCTGCCTCTCTATGGGGTATTTTGAAAAAATATCCACATGAAAGGTGAAGAAGACATTTTTCATCCTTATATTTATTTTTTAAATTAATTATAAAGTAATACCTAAATACATTACAACTGATAAAAATTCAAAGCTACCTAAGTTTAGGGAATAAAAAGCAAAAATCCCTAATATATCCCTCTCACCACCCACTACCCTTCTACCACATCTAATCCCACCCTCCCCAGAGAAAGCCACCCACAGCATGTGCATAGCCTTTCAGACCTTTTTCTTAGCATTAACAGTTCTCTATCAACATGCAATGTTGCAAAACACATAACAAGGACTATATGTGCTATTCTTTGACTTCCTTTTCACACTGTAGAGTATACCTTTGGGCCTTTAAGAGAGGTAGTGTAACTCATCCACAGTCAGAATGCTCCGGCTAAACACAGCTCACAGTGCTGCAGGAAGCCAAGCTACTCACCATCTCAAAGTCGGTGCCTACGAGGCTGCTGAGATACTCCTTGTGCCGGCCATAAAGCTGAGGAAACAAACCAAACCAAAACTCAAGATGCAACCCAAGCTAGACCAAAGTTCAGTTCTGAATGGGAAGAAGAAAAGCAATAGTGGGAAGGGTCAGCAAGAGCTGGAGGCGTAAGCACCTGACTCACCGCCATTTTACCGTGAAGCAGAGGCCCTGGAGTCAGCTGGTCTGGGGCAGAATCCTGACTCTCGCCCTTACAAGCTATGCCACCTTGGGCAGACTACTTAGCTCCTCAATCTCGGTTTCCCCACTTATAAGGTGGTAATAAGTGTTCACCTCAAAGGGTTGTTGTAAAGACTAAAGGAAATAAGGTATGTAAAGTACCTAGCACAGAACATGGTAAATGCTCAAATAAATGGTTATTGTTATTATTATAATATGATCAAAAACTTCTGTCTGATATGTCAGCAATGCTGCCTAAGTCAGAAGGGGCCATGAAGGGCAAGGCTTTTCCCGAGCAACTGCTGACATCAAGTTCAGAAATGGTCTCAGCTCCAGGCACTGAGGCTCATCCCTTGGATACTTGGAATGAACTTGCGCTTACATCCTTGAACACTCGCCGTTCCCGCTCCTCCTCCTCCGGCTGTGCGTGGGGGGAAACATTGTCGATCGTATATTTCCACAGCTCCTGCTTCTCCCCCTCCGTCTCAATCCTGTAAGGTCAAAACCACAGAAAGGAGCAACTCTAATAATGAGAGATGGGCCCTGGGATAGCTCCCAGCCCAGGGATGAGCGATCAGGGGCCATACACCTCACTAAAGTATATGATGATAAAAGTGGCTGTATTGACGACCAGGAGAGAGAAACAAAAGGGTAAAGCAGAGAGGGCACCAGACTAGACTCAGAAAGTATAGGTTCTGGGCCCATTTCTGGCTTGAAGTTACAGTCAAACTGTAAGGCACAACATTCCTGCCACCCAGTTCTCTCACCTGAAAAATGGACAGGTTGGGCCAGATAATTTCTAATTTACATTTCTGTCATTTCCAAGATACAGAGATGAGGAACAGTCAGCCCACAGGAAAAGCCTGGCTGAGTTCACCCCACTCTGTTCTGGTCAGGTCCTACATTCAGCAGCACAGAGAATCACTGTCATTTAACTGTACCACTGAAGTGATCCCTTTCAAATTGGTGCAGTTGCACATTTTCTGAGAAAGGAGTCCCTGGTTTTCTAAGGCCCTATGACTTGGAACAGAATACGAACCATTGCCTGGGAATGTAAAAGTTAGAACAGATGAAGGACTTTCTGACAGTCTAGTTGACTAGGGACAAAAAGTGCAACCAAGGGAAGGAATGCCAGTCTCCACTACCCCTTTCTTCCTCTCCTCACCTGTAGGGTCCTTTGAGGCCCGTGAAGTCAGGCTTTACTGTGATCACACCATTGCTATCCACCTTCAGAGTACACAGGACATGTTCATACTTCTTATAGCCAAGCCTAGAAATCAGGAAAACACCAAGGTTGAGGTCAATGGTCCTTCAGGGAAACAAGAAGAGATACTGAGCCCACTGCAGGGGAGAGAACAGAGGCTATAGGGAGAGCTGTCATGGTAAAACTTTCTTCCAAGTACAACTAAGAAAAAAAAGGAAGAAAAAGTCCCTTCCTCTCCTATAACCCAGGATGATAACAGGAAGGGGATAGCTGGTGAGAGGAGAAGAAGATGAGGATCTGAGTTGGCAGTGAGAAGCTTCACTCATAACTAAGAAGAGAAGGAAGAAAAAGTCCCTCCCTCCCCTATAACCTAGGATGATAATAACAGGAAGGGGAGAGCTGGTGAGAGGAGAAAAGGATGAGGCTCTAAGCTGGCAGTGAGAAGCGCCACTCACTTTTTATAGGGCCCCAGGTCTGCCATGATGTGCATTGTCTGAAGAGGGGTGTTAATGACGTGGTTGTTCCTGACAAACTCTTCTGAGGGCTCCCAGGTGACGATGCGTGACTTGAGGATGCCGCCCTCCCTGGGAGACACCACAG | TAACAGAAGGCCTTGGCTTAGCTGTGGGTACTCTCACGGTTTAAGATCAACAGAAGGGAAGGCATCACCCAAGAAGGATGAGGGGCCACCAGCGAGATAGGAGAGAGAAGTGTGGAGCCAGAAGCCAGAGAAGTGTGTCATGCAGCACAGTGGGCTCTGGAAAATGCTTCAGGAAGGTCAAGCGAGGTGAAAGCAGGGAAGTCTCCACTGGGTTTGGTAAAGTGGATGTGATCTATGACCTTGAAAAGAACAGTAACAGTTTCAGCAGAGGAGTGGGAAAGGAAGCCTGACCAAATGCCTCTAGATCTGTCTGAATGGGTATAAAAGGAGAGACTTAAGAATATTACTTACGAGCAGTTGGCAATTCTACAAAGAAGTGGACGTAGAGATTGTCATACTCATAGCCTTGGGCTGAAACTACGAGAGAAAACAGGAAGCTATTTTAGCTTTTTCTCCTACCACCCTTAGCACCCAACCCAATCCTGAGGGGCCTACACACCCTGAGAGCAAGTCTTTTGAGGGCCAGGAACCCTCTGCGTTTCCAGGAAAGACTCACCACTGAGTTTCCCAAGTACAGCAGACAAGGCCTCTACCAGAGTGGAGGAGACTATTCACAGCTCCATCTAGGCACGTGCCTAAGCATCAAGAGATCTATGCTAGCAAGACACTTACCGACCTCTCCATTTACAAAGAGCCGGAGGGCACCTGGGACAGTCTAAGGTGAAGAGAAGTGGGAAAGGATCAGCAGGCCTGGAGGGAATTGGCACTTCTCCTCCAGCCCCATCTACAAATCTGCAGACGACCTGCCACTAGGGGTCAGGCCCTGGGTGTCACTACTGCACTTTCTCCCCACCCTGACACTTCTCCACAGATCTGTTTCCTTCATTCCTAAGATTCACAATGTAGGGGGAAAGTACATAATTTAAATGGCAGTGAGGACAATGCACTATGGGAAATTATTCAAGCAACAGCAACTGTCCTGTGGTGTGCAATGGGAAGCCAGAACGCCCTCTTCCCTTTAGATGGCTGAGGTCAAGAAACCAGGGAGTTTTCTTTTTTAATTATTTGTGCATGTCTTATCTAACTTTTAAATACTGAATATCTGTTGCTTATGCAATATGGAAATAGTGAAGGTTAATTTTTCAGAGAAAGAGAGGGAGACCAGGAAGTAATTCTATCCTTGTTTCCAGGTCTAGAGATAGAACTCTTAGAATGAGAAAAGACAAAGAACAGCACAACAGAATAGCTGAACTAAACCACTTTCTTTTTTTTTCAGACAGGGTCTTGATCTGTTGTCCAGGCTGGAATGCAGTGGTGTGATCATAGCTCAATGCAAACTCAAACTTCTAGGCTCAAGCAATCCTGCTGCCTCAGCATCATGAGTAGCTGGGACTACAGGTATGTATCACCATGCCTTGCTAATTTTTTTTTTTTTTTTTGTAGGGATGTGGTCTCACTATGTTGCCCAGGCTGCTCTCAAACTCCTGGCTTCAAGTGATCCTCCCACCTTGGCCTCACAAAGTGCTGGGATTATAGTCATGCGCCACCGCATCAGGCCTATATTTTTTAAGAGCCAAAATATGTGACAAACAGAAATGGCACCCCTGCCTCTCTATGGGGTATTTTGAAAAAATATCCACATGAAAGGTGAAGAAGACATTTTTCATCCTTATATTTATTTTTTAAATTAATTATAAAGTAATACCTAAATACATTACAACTGATAAAAATTCAAAGCTACCTAAGTTTAGGGAATAAAAAGCAAAAATCCCTAATATATCCCTCTCACCACCCACTACCCTTCTACCACATCTAATCCCACCCTCCCCAGAGAAAGCCACCCACAGCATGTGCATAGCCTTTCAGACCTTTTTCTTAGCATTAACAGTTCTCTATCAACATGCAATGTTGCAAAACACATAACAAGGACTATATGTGCTATTCTTTGACTTCCTTTTCACACTGTAGAGTATACCTTTGGGCCTTTAAGAGAGGTAGTGTAACTCATCCACAGTCAGAATGCTCCGGCTAAACACAGCTCACAGTGCTGGAAGCCAAGCTACTCACCATCTCAAAGTCGGTGCCTACGAGGCTGCTGAGATACTCCTTGTGCCGGCCATAAAGCTGAGGAAACAAACCAAACCAAAACTCAAGATGCAACCCAAGCTAGACCAAAGTTCAGTTCTGAATGGGAAGAAGAAAAGCAATAGTGGGAAGGGTCAGCAAGAGCTGGAGGCGTAAGCACCTGACTCACCGCCATTTTACCGTGAAGCAGAGGCCCTGGAGTCAGCTGGTCTGGGGCAGAATCCTGACTCTCGCCCTTACAAGCTATGCCACCTTGGGCAGACTACTTAGCTCCTCAATCTCGGTTTCCCCACTTATAAGGTGGTAATAAGTGTTCACCTCAAAGGGTTGTTGTAAAGACTAAAGGAAATAAGGTATGTAAAGTACCTAGCACAGAACATGGTAAATGCTCAAATAAATGGTTATTGTTATTATTATAATATGATCAAAAACTTCTGTCTGATATGTCAGCAATGCTGCCTAAGTCAGAAGGGGCCATGAAGGGCAAGGCTTTTCCCGAGCAACTGCTGACATCAAGTTCAGAAATGGTCTCAGCTCCAGGCACTGAGGCTCATCCCTTGGATACTTGGAATGAACTTGCGCTTACATCCTTGAACACTCGCCGTTCCCGCTCCTCCTCCTCCGGCTGTGCGTGGGGGGAAACATTGTCGATCGTATATTTCCACAGCTCCTGCTTCTCCCCCTCCGTCTCAATCCTGTAAGGTCAAAACCACAGAAAGGAGCAACTCTAATAATGAGAGATGGGCCCTGGGATAGCTCCCAGCCCAGGGATGAGCGATCAGGGGCCATACACCTCACTAAAGTATATGATGATAAAAGTGGCTGTATTGACGACCAGGAGAGAGAAACAAAAGGGTAAAGCAGAGAGGGCACCAGACTAGACTCAGAAAGTATAGGTTCTGGGCCCATTTCTGGCTTGAAGTTACAGTCAAACTGTAAGGCACAACATTCCTGCCACCCAGTTCTCTCACCTGAAAAATGGACAGGTTGGGCCAGATAATTTCTAATTTACATTTCTGTCATTTCCAAGATACAGAGATGAGGAACAGTCAGCCCACAGGAAAAGCCTGGCTGAGTTCACCCCACTCTGTTCTGGTCAGGTCCTACATTCAGCAGCACAGAGAATCACTGTCATTTAACTGTACCACTGAAGTGATCCCTTTCAAATTGGTGCAGTTGCACATTTTCTGAGAAAGGAGTCCCTGGTTTTCTAAGGCCCTATGACTTGGAACAGAATACGAACCATTGCCTGGGAATGTAAAAGTTAGAACAGATGAAGGACTTTCTGACAGTCTAGTTGACTAGGGACAAAAAGTGCAACCAAGGGAAGGAATGCCAGTCTCCACTACCCCTTTCTTCCTCTCCTCACCTGTAGGGTCCTTTGAGGCCCGTGAAGTCAGGCTTTACTGTGATCACACCATTGCTATCCACCTTCAGAGTACACAGGACATGTTCATACTTCTTATAGCCAAGCCTAGAAATCAGGAAAACACCAAGGTTGAGGTCAATGGTCCTTCAGGGAAACAAGAAGAGATACTGAGCCCACTGCAGGGGAGAGAACAGAGGCTATAGGGAGAGCTGTCATGGTAAAACTTTCTTCCAAGTACAACTAAGAAAAAAAAGGAAGAAAAAGTCCCTTCCTCTCCTATAACCCAGGATGATAACAGGAAGGGGATAGCTGGTGAGAGGAGAAGAAGATGAGGATCTGAGTTGGCAGTGAGAAGCTTCACTCATAACTAAGAAGAGAAGGAAGAAAAAGTCCCTCCCTCCCCTATAACCTAGGATGATAATAACAGGAAGGGGAGAGCTGGTGAGAGGAGAAAAGGATGAGGCTCTAAGCTGGCAGTGAGAAGCGCCACTCACTTTTTATAGGGCCCCAGGTCTGCCATGATGTGCATTGTCTGAAGAGGGGTGTTAATGACGTGGTTGTTCCTGACAAACTCTTCTGAGGGCTCCCAGGTGACGATGCGTGACTTGAGGATGCCGCCCTCCCTGGGAGACACCACAGNNN | benign | 279,382 |
Clinical significance of chromosome 17, position 58213034, gene MKS1 (MKS transition zone complex subunit 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Bardet-Biedl_syndrome_13', 'Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome'] | CTCCATTTACAAAGAGCCGGAGGGCACCTGGGACAGTCTAAGGTGAAGAGAAGTGGGAAAGGATCAGCAGGCCTGGAGGGAATTGGCACTTCTCCTCCAGCCCCATCTACAAATCTGCAGACGACCTGCCACTAGGGGTCAGGCCCTGGGTGTCACTACTGCACTTTCTCCCCACCCTGACACTTCTCCACAGATCTGTTTCCTTCATTCCTAAGATTCACAATGTAGGGGGAAAGTACATAATTTAAATGGCAGTGAGGACAATGCACTATGGGAAATTATTCAAGCAACAGCAACTGTCCTGTGGTGTGCAATGGGAAGCCAGAACGCCCTCTTCCCTTTAGATGGCTGAGGTCAAGAAACCAGGGAGTTTTCTTTTTTAATTATTTGTGCATGTCTTATCTAACTTTTAAATACTGAATATCTGTTGCTTATGCAATATGGAAATAGTGAAGGTTAATTTTTCAGAGAAAGAGAGGGAGACCAGGAAGTAATTCTATCCTTGTTTCCAGGTCTAGAGATAGAACTCTTAGAATGAGAAAAGACAAAGAACAGCACAACAGAATAGCTGAACTAAACCACTTTCTTTTTTTTTCAGACAGGGTCTTGATCTGTTGTCCAGGCTGGAATGCAGTGGTGTGATCATAGCTCAATGCAAACTCAAACTTCTAGGCTCAAGCAATCCTGCTGCCTCAGCATCATGAGTAGCTGGGACTACAGGTATGTATCACCATGCCTTGCTAATTTTTTTTTTTTTTTTTGTAGGGATGTGGTCTCACTATGTTGCCCAGGCTGCTCTCAAACTCCTGGCTTCAAGTGATCCTCCCACCTTGGCCTCACAAAGTGCTGGGATTATAGTCATGCGCCACCGCATCAGGCCTATATTTTTTAAGAGCCAAAATATGTGACAAACAGAAATGGCACCCCTGCCTCTCTATGGGGTATTTTGAAAAAATATCCACATGAAAGGTGAAGAAGACATTTTTCATCCTTATATTTATTTTTTAAATTAATTATAAAGTAATACCTAAATACATTACAACTGATAAAAATTCAAAGCTACCTAAGTTTAGGGAATAAAAAGCAAAAATCCCTAATATATCCCTCTCACCACCCACTACCCTTCTACCACATCTAATCCCACCCTCCCCAGAGAAAGCCACCCACAGCATGTGCATAGCCTTTCAGACCTTTTTCTTAGCATTAACAGTTCTCTATCAACATGCAATGTTGCAAAACACATAACAAGGACTATATGTGCTATTCTTTGACTTCCTTTTCACACTGTAGAGTATACCTTTGGGCCTTTAAGAGAGGTAGTGTAACTCATCCACAGTCAGAATGCTCCGGCTAAACACAGCTCACAGTGCTGCAGGAAGCCAAGCTACTCACCATCTCAAAGTCGGTGCCTACGAGGCTGCTGAGATACTCCTTGTGCCGGCCATAAAGCTGAGGAAACAAACCAAACCAAAACTCAAGATGCAACCCAAGCTAGACCAAAGTTCAGTTCTGAATGGGAAGAAGAAAAGCAATAGTGGGAAGGGTCAGCAAGAGCTGGAGGCGTAAGCACCTGACTCACCGCCATTTTACCGTGAAGCAGAGGCCCTGGAGTCAGCTGGTCTGGGGCAGAATCCTGACTCTCGCCCTTACAAGCTATGCCACCTTGGGCAGACTACTTAGCTCCTCAATCTCGGTTTCCCCACTTATAAGGTGGTAATAAGTGTTCACCTCAAAGGGTTGTTGTAAAGACTAAAGGAAATAAGGTATGTAAAGTACCTAGCACAGAACATGGTAAATGCTCAAATAAATGGTTATTGTTATTATTATAATATGATCAAAAACTTCTGTCTGATATGTCAGCAATGCTGCCTAAGTCAGAAGGGGCCATGAAGGGCAAGGCTTTTCCCGAGCAACTGCTGACATCAAGTTCAGAAATGGTCTCAGCTCCAGGCACTGAGGCTCATCCCTTGGATACTTGGAATGAACTTGCGCTTACATCCTTGAACACTCGCCGTTCCCGCTCCTCCTCCTCCGGCTGTGCGTGGGGGGAAACATTGTCGATCGTATATTTCCACAGCTCCTGCTTCTCCCCCTCCGTCTCAATCCTGTAAGGTCAAAACCACAGAAAGGAGCAACTCTAATAATGAGAGATGGGCCCTGGGATAGCTCCCAGCCCAGGGATGAGCGATCAGGGGCCATACACCTCACTAAAGTATATGATGATAAAAGTGGCTGTATTGACGACCAGGAGAGAGAAACAAAAGGGTAAAGCAGAGAGGGCACCAGACTAGACTCAGAAAGTATAGGTTCTGGGCCCATTTCTGGCTTGAAGTTACAGTCAAACTGTAAGGCACAACATTCCTGCCACCCAGTTCTCTCACCTGAAAAATGGACAGGTTGGGCCAGATAATTTCTAATTTACATTTCTGTCATTTCCAAGATACAGAGATGAGGAACAGTCAGCCCACAGGAAAAGCCTGGCTGAGTTCACCCCACTCTGTTCTGGTCAGGTCCTACATTCAGCAGCACAGAGAATCACTGTCATTTAACTGTACCACTGAAGTGATCCCTTTCAAATTGGTGCAGTTGCACATTTTCTGAGAAAGGAGTCCCTGGTTTTCTAAGGCCCTATGACTTGGAACAGAATACGAACCATTGCCTGGGAATGTAAAAGTTAGAACAGATGAAGGACTTTCTGACAGTCTAGTTGACTAGGGACAAAAAGTGCAACCAAGGGAAGGAATGCCAGTCTCCACTACCCCTTTCTTCCTCTCCTCACCTGTAGGGTCCTTTGAGGCCCGTGAAGTCAGGCTTTACTGTGATCACACCATTGCTATCCACCTTCAGAGTACACAGGACATGTTCATACTTCTTATAGCCAAGCCTAGAAATCAGGAAAACACCAAGGTTGAGGTCAATGGTCCTTCAGGGAAACAAGAAGAGATACTGAGCCCACTGCAGGGGAGAGAACAGAGGCTATAGGGAGAGCTGTCATGGTAAAACTTTCTTCCAAGTACAACTAAGAAAAAAAAGGAAGAAAAAGTCCCTTCCTCTCCTATAACCCAGGATGATAACAGGAAGGGGATAGCTGGTGAGAGGAGAAGAAGATGAGGATCTGAGTTGGCAGTGAGAAGCTTCACTCATAACTAAGAAGAGAAGGAAGAAAAAGTCCCTCCCTCCCCTATAACCTAGGATGATAATAACAGGAAGGGGAGAGCTGGTGAGAGGAGAAAAGGATGAGGCTCTAAGCTGGCAGTGAGAAGCGCCACTCACTTTTTATAGGGCCCCAGGTCTGCCATGATGTGCATTGTCTGAAGAGGGGTGTTAATGACGTGGTTGTTCCTGACAAACTCTTCTGAGGGCTCCCAGGTGACGATGCGTGACTTGAGGATGCCGCCCTCCCTGGGAGACACCACAGAAAGGTCACTTCCCTGGCACACCCCAATGGAGCACCCCAGTGGAGAGCCACTTCAGAATGGGAAGTTTGAGCTAGTGGACATACTGTTTTGTTTTGTTTTTTAAGAGCCAAAATATTTGACAAACAGAAATGACATCCCTTCCCTCTCTCTGAGGCACTTTGGAAAAATGTCCACATGAAGAGTGAGGAAGATATTTTATATTTTTATATTTATTTTTTAAATTAATTACAAAGTAATACTTGAATACTATATATAACCACTGATAAAAATGCAAAACTACCCAACTTTAGGAAATAAAAAGTAAAAGCTTGTCCCCCATCCCATGCCCGCACTCACATCCCTCGCCTGTCCTGCCGGCGACGCCTGACATTTGCCATTCGCTCGACCAAGAATGAAGGCACCTCGCTGGCTGCAGTGGTCATTCTCTGACAGTGCTGGGAAAAGCAAGCAGCCCTGTGTACGCCATCTGGTCAGGGCCACATGGAGCCAAGTACCTGAAGGGAAGTCTTCCTCCTGAAACCTCATCCAGGACCTGAACCCCACAGGTTCCGCCACCTCACAATTATACATGCTAACGGAGGGAGCAGTAGCCAAACAACCCAAAGAAGATTTCTACCACATCATGGTTTGCCTTTGGATTTTAAAAAGGAGTTATTTATGTTAATATTAAAATCAGT | CTCCATTTACAAAGAGCCGGAGGGCACCTGGGACAGTCTAAGGTGAAGAGAAGTGGGAAAGGATCAGCAGGCCTGGAGGGAATTGGCACTTCTCCTCCAGCCCCATCTACAAATCTGCAGACGACCTGCCACTAGGGGTCAGGCCCTGGGTGTCACTACTGCACTTTCTCCCCACCCTGACACTTCTCCACAGATCTGTTTCCTTCATTCCTAAGATTCACAATGTAGGGGGAAAGTACATAATTTAAATGGCAGTGAGGACAATGCACTATGGGAAATTATTCAAGCAACAGCAACTGTCCTGTGGTGTGCAATGGGAAGCCAGAACGCCCTCTTCCCTTTAGATGGCTGAGGTCAAGAAACCAGGGAGTTTTCTTTTTTAATTATTTGTGCATGTCTTATCTAACTTTTAAATACTGAATATCTGTTGCTTATGCAATATGGAAATAGTGAAGGTTAATTTTTCAGAGAAAGAGAGGGAGACCAGGAAGTAATTCTATCCTTGTTTCCAGGTCTAGAGATAGAACTCTTAGAATGAGAAAAGACAAAGAACAGCACAACAGAATAGCTGAACTAAACCACTTTCTTTTTTTTTCAGACAGGGTCTTGATCTGTTGTCCAGGCTGGAATGCAGTGGTGTGATCATAGCTCAATGCAAACTCAAACTTCTAGGCTCAAGCAATCCTGCTGCCTCAGCATCATGAGTAGCTGGGACTACAGGTATGTATCACCATGCCTTGCTAATTTTTTTTTTTTTTTTTGTAGGGATGTGGTCTCACTATGTTGCCCAGGCTGCTCTCAAACTCCTGGCTTCAAGTGATCCTCCCACCTTGGCCTCACAAAGTGCTGGGATTATAGTCATGCGCCACCGCATCAGGCCTATATTTTTTAAGAGCCAAAATATGTGACAAACAGAAATGGCACCCCTGCCTCTCTATGGGGTATTTTGAAAAAATATCCACATGAAAGGTGAAGAAGACATTTTTCATCCTTATATTTATTTTTTAAATTAATTATAAAGTAATACCTAAATACATTACAACTGATAAAAATTCAAAGCTACCTAAGTTTAGGGAATAAAAAGCAAAAATCCCTAATATATCCCTCTCACCACCCACTACCCTTCTACCACATCTAATCCCACCCTCCCCAGAGAAAGCCACCCACAGCATGTGCATAGCCTTTCAGACCTTTTTCTTAGCATTAACAGTTCTCTATCAACATGCAATGTTGCAAAACACATAACAAGGACTATATGTGCTATTCTTTGACTTCCTTTTCACACTGTAGAGTATACCTTTGGGCCTTTAAGAGAGGTAGTGTAACTCATCCACAGTCAGAATGCTCCGGCTAAACACAGCTCACAGTGCTGCAGGAAGCCAAGCTACTCACCATCTCAAAGTCGGTGCCTACGAGGCTGCTGAGATACTCCTTGTGCCGGCCATAAAGCTGAGGAAACAAACCAAACCAAAACTCAAGATGCAACCCAAGCTAGACCAAAGTTCAGTTCTGAATGGGAAGAAGAAAAGCAATAGTGGGAAGGGTCAGCAAGAGCTGGAGGCGTAAGCACCTGACTCACCGCCATTTTACCGTGAAGCAGAGGCCCTGGAGTCAGCTGGTCTGGGGCAGAATCCTGACTCTCGCCCTTACAAGCTATGCCACCTTGGGCAGACTACTTAGCTCCTCAATCTCGGTTTCCCCACTTATAAGGTGGTAATAAGTGTTCACCTCAAAGGGTTGTTGTAAAGACTAAAGGAAATAAGGTATGTAAAGTACCTAGCACAGAACATGGTAAATGCTCAAATAAATGGTTATTGTTATTATTATAATATGATCAAAAACTTCTGTCTGATATGTCAGCAATGCTGCCTAAGTCAGAAGGGGCCATGAAGGGCAAGGCTTTTCCCGAGCAACTGCTGACATCAAGTTCAGAAATGGTCTCAGCTCCAGGCACTGAGGCTCATCCCTTGGATACTTGGAATGAACTTGCGCTTACATCCTTGAACACTCGCCGTTCCCGCTCCTCCTCCTCCGGCTGTGCGTGGGGGGAAAACATTGTCGATCGTATATTTCCACAGCTCCTGCTTCTCCCCCTCCGTCTCAATCCTGTAAGGTCAAAACCACAGAAAGGAGCAACTCTAATAATGAGAGATGGGCCCTGGGATAGCTCCCAGCCCAGGGATGAGCGATCAGGGGCCATACACCTCACTAAAGTATATGATGATAAAAGTGGCTGTATTGACGACCAGGAGAGAGAAACAAAAGGGTAAAGCAGAGAGGGCACCAGACTAGACTCAGAAAGTATAGGTTCTGGGCCCATTTCTGGCTTGAAGTTACAGTCAAACTGTAAGGCACAACATTCCTGCCACCCAGTTCTCTCACCTGAAAAATGGACAGGTTGGGCCAGATAATTTCTAATTTACATTTCTGTCATTTCCAAGATACAGAGATGAGGAACAGTCAGCCCACAGGAAAAGCCTGGCTGAGTTCACCCCACTCTGTTCTGGTCAGGTCCTACATTCAGCAGCACAGAGAATCACTGTCATTTAACTGTACCACTGAAGTGATCCCTTTCAAATTGGTGCAGTTGCACATTTTCTGAGAAAGGAGTCCCTGGTTTTCTAAGGCCCTATGACTTGGAACAGAATACGAACCATTGCCTGGGAATGTAAAAGTTAGAACAGATGAAGGACTTTCTGACAGTCTAGTTGACTAGGGACAAAAAGTGCAACCAAGGGAAGGAATGCCAGTCTCCACTACCCCTTTCTTCCTCTCCTCACCTGTAGGGTCCTTTGAGGCCCGTGAAGTCAGGCTTTACTGTGATCACACCATTGCTATCCACCTTCAGAGTACACAGGACATGTTCATACTTCTTATAGCCAAGCCTAGAAATCAGGAAAACACCAAGGTTGAGGTCAATGGTCCTTCAGGGAAACAAGAAGAGATACTGAGCCCACTGCAGGGGAGAGAACAGAGGCTATAGGGAGAGCTGTCATGGTAAAACTTTCTTCCAAGTACAACTAAGAAAAAAAAGGAAGAAAAAGTCCCTTCCTCTCCTATAACCCAGGATGATAACAGGAAGGGGATAGCTGGTGAGAGGAGAAGAAGATGAGGATCTGAGTTGGCAGTGAGAAGCTTCACTCATAACTAAGAAGAGAAGGAAGAAAAAGTCCCTCCCTCCCCTATAACCTAGGATGATAATAACAGGAAGGGGAGAGCTGGTGAGAGGAGAAAAGGATGAGGCTCTAAGCTGGCAGTGAGAAGCGCCACTCACTTTTTATAGGGCCCCAGGTCTGCCATGATGTGCATTGTCTGAAGAGGGGTGTTAATGACGTGGTTGTTCCTGACAAACTCTTCTGAGGGCTCCCAGGTGACGATGCGTGACTTGAGGATGCCGCCCTCCCTGGGAGACACCACAGAAAGGTCACTTCCCTGGCACACCCCAATGGAGCACCCCAGTGGAGAGCCACTTCAGAATGGGAAGTTTGAGCTAGTGGACATACTGTTTTGTTTTGTTTTTTAAGAGCCAAAATATTTGACAAACAGAAATGACATCCCTTCCCTCTCTCTGAGGCACTTTGGAAAAATGTCCACATGAAGAGTGAGGAAGATATTTTATATTTTTATATTTATTTTTTAAATTAATTACAAAGTAATACTTGAATACTATATATAACCACTGATAAAAATGCAAAACTACCCAACTTTAGGAAATAAAAAGTAAAAGCTTGTCCCCCATCCCATGCCCGCACTCACATCCCTCGCCTGTCCTGCCGGCGACGCCTGACATTTGCCATTCGCTCGACCAAGAATGAAGGCACCTCGCTGGCTGCAGTGGTCATTCTCTGACAGTGCTGGGAAAAGCAAGCAGCCCTGTGTACGCCATCTGGTCAGGGCCACATGGAGCCAAGTACCTGAAGGGAAGTCTTCCTCCTGAAACCTCATCCAGGACCTGAACCCCACAGGTTCCGCCACCTCACAATTATACATGCTAACGGAGGGAGCAGTAGCCAAACAACCCAAAGAAGATTTCTACCACATCATGGTTTGCCTTTGGATTTTAAAAAGGAGTTATTTATGTTAATATTAAAATCAG | pathogenic | 279,389 |
Does the chromosome 17 mutation at position 58214269 within gene MKS1 (MKS transition zone complex subunit 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Bardet-Biedl_syndrome_13', 'Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome'] | AAACACATAACAAGGACTATATGTGCTATTCTTTGACTTCCTTTTCACACTGTAGAGTATACCTTTGGGCCTTTAAGAGAGGTAGTGTAACTCATCCACAGTCAGAATGCTCCGGCTAAACACAGCTCACAGTGCTGCAGGAAGCCAAGCTACTCACCATCTCAAAGTCGGTGCCTACGAGGCTGCTGAGATACTCCTTGTGCCGGCCATAAAGCTGAGGAAACAAACCAAACCAAAACTCAAGATGCAACCCAAGCTAGACCAAAGTTCAGTTCTGAATGGGAAGAAGAAAAGCAATAGTGGGAAGGGTCAGCAAGAGCTGGAGGCGTAAGCACCTGACTCACCGCCATTTTACCGTGAAGCAGAGGCCCTGGAGTCAGCTGGTCTGGGGCAGAATCCTGACTCTCGCCCTTACAAGCTATGCCACCTTGGGCAGACTACTTAGCTCCTCAATCTCGGTTTCCCCACTTATAAGGTGGTAATAAGTGTTCACCTCAAAGGGTTGTTGTAAAGACTAAAGGAAATAAGGTATGTAAAGTACCTAGCACAGAACATGGTAAATGCTCAAATAAATGGTTATTGTTATTATTATAATATGATCAAAAACTTCTGTCTGATATGTCAGCAATGCTGCCTAAGTCAGAAGGGGCCATGAAGGGCAAGGCTTTTCCCGAGCAACTGCTGACATCAAGTTCAGAAATGGTCTCAGCTCCAGGCACTGAGGCTCATCCCTTGGATACTTGGAATGAACTTGCGCTTACATCCTTGAACACTCGCCGTTCCCGCTCCTCCTCCTCCGGCTGTGCGTGGGGGGAAACATTGTCGATCGTATATTTCCACAGCTCCTGCTTCTCCCCCTCCGTCTCAATCCTGTAAGGTCAAAACCACAGAAAGGAGCAACTCTAATAATGAGAGATGGGCCCTGGGATAGCTCCCAGCCCAGGGATGAGCGATCAGGGGCCATACACCTCACTAAAGTATATGATGATAAAAGTGGCTGTATTGACGACCAGGAGAGAGAAACAAAAGGGTAAAGCAGAGAGGGCACCAGACTAGACTCAGAAAGTATAGGTTCTGGGCCCATTTCTGGCTTGAAGTTACAGTCAAACTGTAAGGCACAACATTCCTGCCACCCAGTTCTCTCACCTGAAAAATGGACAGGTTGGGCCAGATAATTTCTAATTTACATTTCTGTCATTTCCAAGATACAGAGATGAGGAACAGTCAGCCCACAGGAAAAGCCTGGCTGAGTTCACCCCACTCTGTTCTGGTCAGGTCCTACATTCAGCAGCACAGAGAATCACTGTCATTTAACTGTACCACTGAAGTGATCCCTTTCAAATTGGTGCAGTTGCACATTTTCTGAGAAAGGAGTCCCTGGTTTTCTAAGGCCCTATGACTTGGAACAGAATACGAACCATTGCCTGGGAATGTAAAAGTTAGAACAGATGAAGGACTTTCTGACAGTCTAGTTGACTAGGGACAAAAAGTGCAACCAAGGGAAGGAATGCCAGTCTCCACTACCCCTTTCTTCCTCTCCTCACCTGTAGGGTCCTTTGAGGCCCGTGAAGTCAGGCTTTACTGTGATCACACCATTGCTATCCACCTTCAGAGTACACAGGACATGTTCATACTTCTTATAGCCAAGCCTAGAAATCAGGAAAACACCAAGGTTGAGGTCAATGGTCCTTCAGGGAAACAAGAAGAGATACTGAGCCCACTGCAGGGGAGAGAACAGAGGCTATAGGGAGAGCTGTCATGGTAAAACTTTCTTCCAAGTACAACTAAGAAAAAAAAGGAAGAAAAAGTCCCTTCCTCTCCTATAACCCAGGATGATAACAGGAAGGGGATAGCTGGTGAGAGGAGAAGAAGATGAGGATCTGAGTTGGCAGTGAGAAGCTTCACTCATAACTAAGAAGAGAAGGAAGAAAAAGTCCCTCCCTCCCCTATAACCTAGGATGATAATAACAGGAAGGGGAGAGCTGGTGAGAGGAGAAAAGGATGAGGCTCTAAGCTGGCAGTGAGAAGCGCCACTCACTTTTTATAGGGCCCCAGGTCTGCCATGATGTGCATTGTCTGAAGAGGGGTGTTAATGACGTGGTTGTTCCTGACAAACTCTTCTGAGGGCTCCCAGGTGACGATGCGTGACTTGAGGATGCCGCCCTCCCTGGGAGACACCACAGAAAGGTCACTTCCCTGGCACACCCCAATGGAGCACCCCAGTGGAGAGCCACTTCAGAATGGGAAGTTTGAGCTAGTGGACATACTGTTTTGTTTTGTTTTTTAAGAGCCAAAATATTTGACAAACAGAAATGACATCCCTTCCCTCTCTCTGAGGCACTTTGGAAAAATGTCCACATGAAGAGTGAGGAAGATATTTTATATTTTTATATTTATTTTTTAAATTAATTACAAAGTAATACTTGAATACTATATATAACCACTGATAAAAATGCAAAACTACCCAACTTTAGGAAATAAAAAGTAAAAGCTTGTCCCCCATCCCATGCCCGCACTCACATCCCTCGCCTGTCCTGCCGGCGACGCCTGACATTTGCCATTCGCTCGACCAAGAATGAAGGCACCTCGCTGGCTGCAGTGGTCATTCTCTGACAGTGCTGGGAAAAGCAAGCAGCCCTGTGTACGCCATCTGGTCAGGGCCACATGGAGCCAAGTACCTGAAGGGAAGTCTTCCTCCTGAAACCTCATCCAGGACCTGAACCCCACAGGTTCCGCCACCTCACAATTATACATGCTAACGGAGGGAGCAGTAGCCAAACAACCCAAAGAAGATTTCTACCACATCATGGTTTGCCTTTGGATTTTAAAAAGGAGTTATTTATGTTAATATTAAAATCAGTCTGCATTCTCTGAGCACAAACCAACAAAAAGTTGGGTTAGTGTGCTTGGTAGATGTTGAAGTTAACAAGGTGGTTAGAAAATGCCAAATGGGATACAAGCATTTTGTGGGAAATCCTCACATGGTAACTGAGCACTAACTGCATTTTCATTTGCTTTTCCAAAACAGACAACCCAAATTTTATTTAATTTATATATTTTTTTAAGAGACAGGGTCTCACCCAGGCTGCAGTGCAGTGGTGCTATCATAGCTCACTGCAACCTTGAACTCCTTGGCTCAAGTGATCCTCCCGCCTCAGCTTCCCACGTAGCCGGGACTACAGGTACATGCCACCATGCCCAGCTAATGTTATCAATCCACAGCTCTAATAATGAAAGCACGTCAATCTTTCAAAAACATTTATTGAATACCTGTTCCTTGCAGAGACCTACAGAGTCATAGACAAAAATAAAAAAAATAGGCTCTACCCTCGAGGAGCTTAAAATCTTACTGAGAAGACAGAAGCAACTGAAATGCAGTGACTGAAGAAAATGTAAAACAAGGTCACAAGGGTATTTTTGTCATAGGCAAATTGAGGACATAAGCCATTTTCCATAGCTATACTGAATTCCTCTTCAAACCCATATACTCAGAGTTTGGGCTGAATCCCCTGATGAATTTTATCTATATTGTTCCAGACTCCACTACCTGTCTTTTTTCATGATGCATGGAGGAAGTCAAGCCCAGTGGTTACTTCTCCCAGTATGCACTCTGCAAGCATATAATCAGAGATACTGGCAGCTCCCCCAGGCCCTCTAGCAGGCAGAGAAGGGAGCAGCAGCCTCACCACCTGTAGACTGTGCCCATTCTATTCCAGGCTGGCTGCCAGCAGCAGCAGCTCACAGCAGTTCCTAGACAGGCTACTTGTCTCCCCTTACTAGGCTCTGACATAACACACAGAACTCAGTGAGGCAAAAAAGCTAGAGGAAGCAAAGATGGAAGCTATGAGACCCTAGAAAGAACAATACCTCCTCCAAATTGGTGTATCTATCAGAGTCAGTGTAGGTAAAGATTCGTCGGTTTTTCTTGCCACCCGAATTCTCCAGCTTCAGGATCTCCTGACGGTACTGATAATCCAAAGGACTCTGACAGGCTGTTTCATTTTGGTACAGATCTACTTCAAACTGAGGTTACCATAAGGAAACAGAGATGTGTACATCATTATAATACATCAAACTTTTGCTTCTGTAACTGTTT | AAACACATAACAAGGACTATATGTGCTATTCTTTGACTTCCTTTTCACACTGTAGAGTATACCTTTGGGCCTTTAAGAGAGGTAGTGTAACTCATCCACAGTCAGAATGCTCCGGCTAAACACAGCTCACAGTGCTGCAGGAAGCCAAGCTACTCACCATCTCAAAGTCGGTGCCTACGAGGCTGCTGAGATACTCCTTGTGCCGGCCATAAAGCTGAGGAAACAAACCAAACCAAAACTCAAGATGCAACCCAAGCTAGACCAAAGTTCAGTTCTGAATGGGAAGAAGAAAAGCAATAGTGGGAAGGGTCAGCAAGAGCTGGAGGCGTAAGCACCTGACTCACCGCCATTTTACCGTGAAGCAGAGGCCCTGGAGTCAGCTGGTCTGGGGCAGAATCCTGACTCTCGCCCTTACAAGCTATGCCACCTTGGGCAGACTACTTAGCTCCTCAATCTCGGTTTCCCCACTTATAAGGTGGTAATAAGTGTTCACCTCAAAGGGTTGTTGTAAAGACTAAAGGAAATAAGGTATGTAAAGTACCTAGCACAGAACATGGTAAATGCTCAAATAAATGGTTATTGTTATTATTATAATATGATCAAAAACTTCTGTCTGATATGTCAGCAATGCTGCCTAAGTCAGAAGGGGCCATGAAGGGCAAGGCTTTTCCCGAGCAACTGCTGACATCAAGTTCAGAAATGGTCTCAGCTCCAGGCACTGAGGCTCATCCCTTGGATACTTGGAATGAACTTGCGCTTACATCCTTGAACACTCGCCGTTCCCGCTCCTCCTCCTCCGGCTGTGCGTGGGGGGAAACATTGTCGATCGTATATTTCCACAGCTCCTGCTTCTCCCCCTCCGTCTCAATCCTGTAAGGTCAAAACCACAGAAAGGAGCAACTCTAATAATGAGAGATGGGCCCTGGGATAGCTCCCAGCCCAGGGATGAGCGATCAGGGGCCATACACCTCACTAAAGTATATGATGATAAAAGTGGCTGTATTGACGACCAGGAGAGAGAAACAAAAGGGTAAAGCAGAGAGGGCACCAGACTAGACTCAGAAAGTATAGGTTCTGGGCCCATTTCTGGCTTGAAGTTACAGTCAAACTGTAAGGCACAACATTCCTGCCACCCAGTTCTCTCACCTGAAAAATGGACAGGTTGGGCCAGATAATTTCTAATTTACATTTCTGTCATTTCCAAGATACAGAGATGAGGAACAGTCAGCCCACAGGAAAAGCCTGGCTGAGTTCACCCCACTCTGTTCTGGTCAGGTCCTACATTCAGCAGCACAGAGAATCACTGTCATTTAACTGTACCACTGAAGTGATCCCTTTCAAATTGGTGCAGTTGCACATTTTCTGAGAAAGGAGTCCCTGGTTTTCTAAGGCCCTATGACTTGGAACAGAATACGAACCATTGCCTGGGAATGTAAAAGTTAGAACAGATGAAGGACTTTCTGACAGTCTAGTTGACTAGGGACAAAAAGTGCAACCAAGGGAAGGAATGCCAGTCTCCACTACCCCTTTCTTCCTCTCCTCACCTGTAGGGTCCTTTGAGGCCCGTGAAGTCAGGCTTTACTGTGATCACACCATTGCTATCCACCTTCAGAGTACACAGGACATGTTCATACTTCTTATAGCCAAGCCTAGAAATCAGGAAAACACCAAGGTTGAGGTCAATGGTCCTTCAGGGAAACAAGAAGAGATACTGAGCCCACTGCAGGGGAGAGAACAGAGGCTATAGGGAGAGCTGTCATGGTAAAACTTTCTTCCAAGTACAACTAAGAAAAAAAAGGAAGAAAAAGTCCCTTCCTCTCCTATAACCCAGGATGATAACAGGAAGGGGATAGCTGGTGAGAGGAGAAGAAGATGAGGATCTGAGTTGGCAGTGAGAAGCTTCACTCATAACTAAGAAGAGAAGGAAGAAAAAGTCCCTCCCTCCCCTATAACCTAGGATGATAATAACAGGAAGGGGAGAGCTGGTGAGAGGAGAAAAGGATGAGGCTCTAAGCTGGCAGTGAGAAGCGCCACTCACTTTTTATAGGGCCCAGGTCTGCCATGATGTGCATTGTCTGAAGAGGGGTGTTAATGACGTGGTTGTTCCTGACAAACTCTTCTGAGGGCTCCCAGGTGACGATGCGTGACTTGAGGATGCCGCCCTCCCTGGGAGACACCACAGAAAGGTCACTTCCCTGGCACACCCCAATGGAGCACCCCAGTGGAGAGCCACTTCAGAATGGGAAGTTTGAGCTAGTGGACATACTGTTTTGTTTTGTTTTTTAAGAGCCAAAATATTTGACAAACAGAAATGACATCCCTTCCCTCTCTCTGAGGCACTTTGGAAAAATGTCCACATGAAGAGTGAGGAAGATATTTTATATTTTTATATTTATTTTTTAAATTAATTACAAAGTAATACTTGAATACTATATATAACCACTGATAAAAATGCAAAACTACCCAACTTTAGGAAATAAAAAGTAAAAGCTTGTCCCCCATCCCATGCCCGCACTCACATCCCTCGCCTGTCCTGCCGGCGACGCCTGACATTTGCCATTCGCTCGACCAAGAATGAAGGCACCTCGCTGGCTGCAGTGGTCATTCTCTGACAGTGCTGGGAAAAGCAAGCAGCCCTGTGTACGCCATCTGGTCAGGGCCACATGGAGCCAAGTACCTGAAGGGAAGTCTTCCTCCTGAAACCTCATCCAGGACCTGAACCCCACAGGTTCCGCCACCTCACAATTATACATGCTAACGGAGGGAGCAGTAGCCAAACAACCCAAAGAAGATTTCTACCACATCATGGTTTGCCTTTGGATTTTAAAAAGGAGTTATTTATGTTAATATTAAAATCAGTCTGCATTCTCTGAGCACAAACCAACAAAAAGTTGGGTTAGTGTGCTTGGTAGATGTTGAAGTTAACAAGGTGGTTAGAAAATGCCAAATGGGATACAAGCATTTTGTGGGAAATCCTCACATGGTAACTGAGCACTAACTGCATTTTCATTTGCTTTTCCAAAACAGACAACCCAAATTTTATTTAATTTATATATTTTTTTAAGAGACAGGGTCTCACCCAGGCTGCAGTGCAGTGGTGCTATCATAGCTCACTGCAACCTTGAACTCCTTGGCTCAAGTGATCCTCCCGCCTCAGCTTCCCACGTAGCCGGGACTACAGGTACATGCCACCATGCCCAGCTAATGTTATCAATCCACAGCTCTAATAATGAAAGCACGTCAATCTTTCAAAAACATTTATTGAATACCTGTTCCTTGCAGAGACCTACAGAGTCATAGACAAAAATAAAAAAAATAGGCTCTACCCTCGAGGAGCTTAAAATCTTACTGAGAAGACAGAAGCAACTGAAATGCAGTGACTGAAGAAAATGTAAAACAAGGTCACAAGGGTATTTTTGTCATAGGCAAATTGAGGACATAAGCCATTTTCCATAGCTATACTGAATTCCTCTTCAAACCCATATACTCAGAGTTTGGGCTGAATCCCCTGATGAATTTTATCTATATTGTTCCAGACTCCACTACCTGTCTTTTTTCATGATGCATGGAGGAAGTCAAGCCCAGTGGTTACTTCTCCCAGTATGCACTCTGCAAGCATATAATCAGAGATACTGGCAGCTCCCCCAGGCCCTCTAGCAGGCAGAGAAGGGAGCAGCAGCCTCACCACCTGTAGACTGTGCCCATTCTATTCCAGGCTGGCTGCCAGCAGCAGCAGCTCACAGCAGTTCCTAGACAGGCTACTTGTCTCCCCTTACTAGGCTCTGACATAACACACAGAACTCAGTGAGGCAAAAAAGCTAGAGGAAGCAAAGATGGAAGCTATGAGACCCTAGAAAGAACAATACCTCCTCCAAATTGGTGTATCTATCAGAGTCAGTGTAGGTAAAGATTCGTCGGTTTTTCTTGCCACCCGAATTCTCCAGCTTCAGGATCTCCTGACGGTACTGATAATCCAAAGGACTCTGACAGGCTGTTTCATTTTGGTACAGATCTACTTCAAACTGAGGTTACCATAAGGAAACAGAGATGTGTACATCATTATAATACATCAAACTTTTGCTTCTGTAACTGTTTN | pathogenic | 279,395 |
Variant in MKS1 (MKS transition zone complex subunit 1), chromosome 17, position 58216111—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Bardet-Biedl_syndrome_13', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_28', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_1'] | GAAGGGGATAGCTGGTGAGAGGAGAAGAAGATGAGGATCTGAGTTGGCAGTGAGAAGCTTCACTCATAACTAAGAAGAGAAGGAAGAAAAAGTCCCTCCCTCCCCTATAACCTAGGATGATAATAACAGGAAGGGGAGAGCTGGTGAGAGGAGAAAAGGATGAGGCTCTAAGCTGGCAGTGAGAAGCGCCACTCACTTTTTATAGGGCCCCAGGTCTGCCATGATGTGCATTGTCTGAAGAGGGGTGTTAATGACGTGGTTGTTCCTGACAAACTCTTCTGAGGGCTCCCAGGTGACGATGCGTGACTTGAGGATGCCGCCCTCCCTGGGAGACACCACAGAAAGGTCACTTCCCTGGCACACCCCAATGGAGCACCCCAGTGGAGAGCCACTTCAGAATGGGAAGTTTGAGCTAGTGGACATACTGTTTTGTTTTGTTTTTTAAGAGCCAAAATATTTGACAAACAGAAATGACATCCCTTCCCTCTCTCTGAGGCACTTTGGAAAAATGTCCACATGAAGAGTGAGGAAGATATTTTATATTTTTATATTTATTTTTTAAATTAATTACAAAGTAATACTTGAATACTATATATAACCACTGATAAAAATGCAAAACTACCCAACTTTAGGAAATAAAAAGTAAAAGCTTGTCCCCCATCCCATGCCCGCACTCACATCCCTCGCCTGTCCTGCCGGCGACGCCTGACATTTGCCATTCGCTCGACCAAGAATGAAGGCACCTCGCTGGCTGCAGTGGTCATTCTCTGACAGTGCTGGGAAAAGCAAGCAGCCCTGTGTACGCCATCTGGTCAGGGCCACATGGAGCCAAGTACCTGAAGGGAAGTCTTCCTCCTGAAACCTCATCCAGGACCTGAACCCCACAGGTTCCGCCACCTCACAATTATACATGCTAACGGAGGGAGCAGTAGCCAAACAACCCAAAGAAGATTTCTACCACATCATGGTTTGCCTTTGGATTTTAAAAAGGAGTTATTTATGTTAATATTAAAATCAGTCTGCATTCTCTGAGCACAAACCAACAAAAAGTTGGGTTAGTGTGCTTGGTAGATGTTGAAGTTAACAAGGTGGTTAGAAAATGCCAAATGGGATACAAGCATTTTGTGGGAAATCCTCACATGGTAACTGAGCACTAACTGCATTTTCATTTGCTTTTCCAAAACAGACAACCCAAATTTTATTTAATTTATATATTTTTTTAAGAGACAGGGTCTCACCCAGGCTGCAGTGCAGTGGTGCTATCATAGCTCACTGCAACCTTGAACTCCTTGGCTCAAGTGATCCTCCCGCCTCAGCTTCCCACGTAGCCGGGACTACAGGTACATGCCACCATGCCCAGCTAATGTTATCAATCCACAGCTCTAATAATGAAAGCACGTCAATCTTTCAAAAACATTTATTGAATACCTGTTCCTTGCAGAGACCTACAGAGTCATAGACAAAAATAAAAAAAATAGGCTCTACCCTCGAGGAGCTTAAAATCTTACTGAGAAGACAGAAGCAACTGAAATGCAGTGACTGAAGAAAATGTAAAACAAGGTCACAAGGGTATTTTTGTCATAGGCAAATTGAGGACATAAGCCATTTTCCATAGCTATACTGAATTCCTCTTCAAACCCATATACTCAGAGTTTGGGCTGAATCCCCTGATGAATTTTATCTATATTGTTCCAGACTCCACTACCTGTCTTTTTTCATGATGCATGGAGGAAGTCAAGCCCAGTGGTTACTTCTCCCAGTATGCACTCTGCAAGCATATAATCAGAGATACTGGCAGCTCCCCCAGGCCCTCTAGCAGGCAGAGAAGGGAGCAGCAGCCTCACCACCTGTAGACTGTGCCCATTCTATTCCAGGCTGGCTGCCAGCAGCAGCAGCTCACAGCAGTTCCTAGACAGGCTACTTGTCTCCCCTTACTAGGCTCTGACATAACACACAGAACTCAGTGAGGCAAAAAAGCTAGAGGAAGCAAAGATGGAAGCTATGAGACCCTAGAAAGAACAATACCTCCTCCAAATTGGTGTATCTATCAGAGTCAGTGTAGGTAAAGATTCGTCGGTTTTTCTTGCCACCCGAATTCTCCAGCTTCAGGATCTCCTGACGGTACTGATAATCCAAAGGACTCTGACAGGCTGTTTCATTTTGGTACAGATCTACTTCAAACTGAGGTTACCATAAGGAAACAGAGATGTGTACATCATTATAATACATCAAACTTTTGCTTCTGTAACTGTTTAATCAAATCAGTTCTACAGAACTGATGCTATCTGACATGTTTTCATAACCAACACTAAACTAATGAATGGCAGGGGAACCAAGAACATTAGAGCTAAAAGGAACCAGACTGATAGTCTAATCCAAGTCTGCTATTACAGATGGCATATAGCCCAGAGATGAAAAGTTCCTCACCCAGAATCACAAAACTGAGTAGTGGCAATCCCTATGTTACAATGCCCTTTAAACACAACAGGGGAAAGTATAAACTGTTACAACCTGTCTGGAAATCACTTTGGCAATATGTATCACCAGCCATGTGGAGGTAGACCAGATGGAATAGACAGAGAAGACAAGAGACACTGGCTCACCTGGCTAAAGAGCTTCTCCTGCCACCCAATCACAATCTCCTCCTCTTCGTCTTCCTCTGGGCGGTGTCCACCTCCAAAGACAACAGAGTGAATCAAATGCTTGAGCCAAACCAGCACCACTTCTTGTTCTGTGGTTTATTATAACCAAAGTCCCTATTCTTATATTTGCCACAAAAACTAGCTGGAATTCAGCAATTTAGTAAGCACTCAACCTAGAGAAATGCTAGAGAGGCTGTATATGAGAGTTAGTATGAGTAGAAGCCAAGATTAGAACCCAGGAAGTCTTAGTCATGACTCTAATTTGAATAAAAGAAAATACCCCCCAGGAATTTTTTTCTGGGGGGGATGGAGTCTCACTCTGTCACCCAAGCTGGAGTGCAGTGGCACTGTTTCAGCTCACTGCAACCTCCTCTTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACACACCACCAACCCAGCTAATTTTTGTATTATCAGTAGAGATGGAGTTTTGCCATGTTAGCCAGGCTGATCTTGAATTCCCGACCTCAGGTGATCCACCTGCCTTGGTCTCCCAAAGTGCTGGGATTACAGGCGTGGGCCACGGCGCTCAGCCCGCTCCAGGAAATATCTAATCTAACTGGATATAAGAAACTGAAATTTAGATATAAGCTGAATAGCCAGCCCTTCCTCAGTCCCAACTGTCTGCATTTGCTAGAAAATAACCCTGGCATTTTTATCTTTACTATTTCTAAAGCCATATATGTAGAATCACAAACACTGAAATTTAGGAGACCAAGTGTAAGGAGAGGACAGTGAAGGCAAATAAATGATTTTTTAACAGAACCAAATCTGGCTGAATGCAGTGACTCACGCCTGTAATCCCAACATTTTGGGAGGCTAAGGTGGGAGGATCACTTGGGCCCAGGAATTTGAAACCAGCCTGGACAACATAGCAAGACCTTTTCTCTACTAAAACTTTAAAAAAAAATAAACTGAGTGTGAGTCTGTAGTCCCAGCTAGTTGGGAGGCTGAGGCAGGAGGATGGCTTGAGCCTGGGAGACCAAGGTTTACAGTGAGCTATGATCATACCACTGCACTCCAGCCTGAGCAGAAGAATGAGATTCTGTCTCAAAACAAAACGAAAACAAAAACAAAGAAAACAAATCTAATCTAATACACTCTTGGGTATGCCTTTTTCAGAGACACGTTTCACAACCTGTGAGCCCACACTCTTGCCCAGGAACAGCTCTGAACAGAAAGAGAAACAATAAAAGCAAACAGACTAGTGACCTGACAACAACCACTCTGTCCTCTCCTCCTCATTCTTTTGGTTTCCCAGATAAGGAAAACCACAAGAACACAGTTGATCTATACATGCACATCATATGCAGATTTTGCAAGCAGTCTCCAGTTTAAAAATTGTTTTTAAAAGTGTTTATATGTGTATTTAGGGTTTGGGGCACGTTTTCTCTTTTAAAAATGC | GAAGGGGATAGCTGGTGAGAGGAGAAGAAGATGAGGATCTGAGTTGGCAGTGAGAAGCTTCACTCATAACTAAGAAGAGAAGGAAGAAAAAGTCCCTCCCTCCCCTATAACCTAGGATGATAATAACAGGAAGGGGAGAGCTGGTGAGAGGAGAAAAGGATGAGGCTCTAAGCTGGCAGTGAGAAGCGCCACTCACTTTTTATAGGGCCCCAGGTCTGCCATGATGTGCATTGTCTGAAGAGGGGTGTTAATGACGTGGTTGTTCCTGACAAACTCTTCTGAGGGCTCCCAGGTGACGATGCGTGACTTGAGGATGCCGCCCTCCCTGGGAGACACCACAGAAAGGTCACTTCCCTGGCACACCCCAATGGAGCACCCCAGTGGAGAGCCACTTCAGAATGGGAAGTTTGAGCTAGTGGACATACTGTTTTGTTTTGTTTTTTAAGAGCCAAAATATTTGACAAACAGAAATGACATCCCTTCCCTCTCTCTGAGGCACTTTGGAAAAATGTCCACATGAAGAGTGAGGAAGATATTTTATATTTTTATATTTATTTTTTAAATTAATTACAAAGTAATACTTGAATACTATATATAACCACTGATAAAAATGCAAAACTACCCAACTTTAGGAAATAAAAAGTAAAAGCTTGTCCCCCATCCCATGCCCGCACTCACATCCCTCGCCTGTCCTGCCGGCGACGCCTGACATTTGCCATTCGCTCGACCAAGAATGAAGGCACCTCGCTGGCTGCAGTGGTCATTCTCTGACAGTGCTGGGAAAAGCAAGCAGCCCTGTGTACGCCATCTGGTCAGGGCCACATGGAGCCAAGTACCTGAAGGGAAGTCTTCCTCCTGAAACCTCATCCAGGACCTGAACCCCACAGGTTCCGCCACCTCACAATTATACATGCTAACGGAGGGAGCAGTAGCCAAACAACCCAAAGAAGATTTCTACCACATCATGGTTTGCCTTTGGATTTTAAAAAGGAGTTATTTATGTTAATATTAAAATCAGTCTGCATTCTCTGAGCACAAACCAACAAAAAGTTGGGTTAGTGTGCTTGGTAGATGTTGAAGTTAACAAGGTGGTTAGAAAATGCCAAATGGGATACAAGCATTTTGTGGGAAATCCTCACATGGTAACTGAGCACTAACTGCATTTTCATTTGCTTTTCCAAAACAGACAACCCAAATTTTATTTAATTTATATATTTTTTTAAGAGACAGGGTCTCACCCAGGCTGCAGTGCAGTGGTGCTATCATAGCTCACTGCAACCTTGAACTCCTTGGCTCAAGTGATCCTCCCGCCTCAGCTTCCCACGTAGCCGGGACTACAGGTACATGCCACCATGCCCAGCTAATGTTATCAATCCACAGCTCTAATAATGAAAGCACGTCAATCTTTCAAAAACATTTATTGAATACCTGTTCCTTGCAGAGACCTACAGAGTCATAGACAAAAATAAAAAAAATAGGCTCTACCCTCGAGGAGCTTAAAATCTTACTGAGAAGACAGAAGCAACTGAAATGCAGTGACTGAAGAAAATGTAAAACAAGGTCACAAGGGTATTTTTGTCATAGGCAAATTGAGGACATAAGCCATTTTCCATAGCTATACTGAATTCCTCTTCAAACCCATATACTCAGAGTTTGGGCTGAATCCCCTGATGAATTTTATCTATATTGTTCCAGACTCCACTACCTGTCTTTTTTCATGATGCATGGAGGAAGTCAAGCCCAGTGGTTACTTCTCCCAGTATGCACTCTGCAAGCATATAATCAGAGATACTGGCAGCTCCCCCAGGCCCTCTAGCAGGCAGAGAAGGGAGCAGCAGCCTCACCACCTGTAGACTGTGCCCATTCTATTCCAGGCTGGCTGCCAGCAGCAGCAGCTCACAGCAGTTCCTAGACAGGCTACTTGTCTCCCCTTACTAGGCTCTGACATAACACACAGAACTCAGTGAGGCAAAAAAGCTAGAGGAAGCAAAGATGGAAGCTATGAGACCCTAGAAAGAACAATACCTCCTCCAAATTGGTGTATCTATCAGTCAGTGTAGGTAAAGATTCGTCGGTTTTTCTTGCCACCCGAATTCTCCAGCTTCAGGATCTCCTGACGGTACTGATAATCCAAAGGACTCTGACAGGCTGTTTCATTTTGGTACAGATCTACTTCAAACTGAGGTTACCATAAGGAAACAGAGATGTGTACATCATTATAATACATCAAACTTTTGCTTCTGTAACTGTTTAATCAAATCAGTTCTACAGAACTGATGCTATCTGACATGTTTTCATAACCAACACTAAACTAATGAATGGCAGGGGAACCAAGAACATTAGAGCTAAAAGGAACCAGACTGATAGTCTAATCCAAGTCTGCTATTACAGATGGCATATAGCCCAGAGATGAAAAGTTCCTCACCCAGAATCACAAAACTGAGTAGTGGCAATCCCTATGTTACAATGCCCTTTAAACACAACAGGGGAAAGTATAAACTGTTACAACCTGTCTGGAAATCACTTTGGCAATATGTATCACCAGCCATGTGGAGGTAGACCAGATGGAATAGACAGAGAAGACAAGAGACACTGGCTCACCTGGCTAAAGAGCTTCTCCTGCCACCCAATCACAATCTCCTCCTCTTCGTCTTCCTCTGGGCGGTGTCCACCTCCAAAGACAACAGAGTGAATCAAATGCTTGAGCCAAACCAGCACCACTTCTTGTTCTGTGGTTTATTATAACCAAAGTCCCTATTCTTATATTTGCCACAAAAACTAGCTGGAATTCAGCAATTTAGTAAGCACTCAACCTAGAGAAATGCTAGAGAGGCTGTATATGAGAGTTAGTATGAGTAGAAGCCAAGATTAGAACCCAGGAAGTCTTAGTCATGACTCTAATTTGAATAAAAGAAAATACCCCCCAGGAATTTTTTTCTGGGGGGGATGGAGTCTCACTCTGTCACCCAAGCTGGAGTGCAGTGGCACTGTTTCAGCTCACTGCAACCTCCTCTTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACACACCACCAACCCAGCTAATTTTTGTATTATCAGTAGAGATGGAGTTTTGCCATGTTAGCCAGGCTGATCTTGAATTCCCGACCTCAGGTGATCCACCTGCCTTGGTCTCCCAAAGTGCTGGGATTACAGGCGTGGGCCACGGCGCTCAGCCCGCTCCAGGAAATATCTAATCTAACTGGATATAAGAAACTGAAATTTAGATATAAGCTGAATAGCCAGCCCTTCCTCAGTCCCAACTGTCTGCATTTGCTAGAAAATAACCCTGGCATTTTTATCTTTACTATTTCTAAAGCCATATATGTAGAATCACAAACACTGAAATTTAGGAGACCAAGTGTAAGGAGAGGACAGTGAAGGCAAATAAATGATTTTTTAACAGAACCAAATCTGGCTGAATGCAGTGACTCACGCCTGTAATCCCAACATTTTGGGAGGCTAAGGTGGGAGGATCACTTGGGCCCAGGAATTTGAAACCAGCCTGGACAACATAGCAAGACCTTTTCTCTACTAAAACTTTAAAAAAAAATAAACTGAGTGTGAGTCTGTAGTCCCAGCTAGTTGGGAGGCTGAGGCAGGAGGATGGCTTGAGCCTGGGAGACCAAGGTTTACAGTGAGCTATGATCATACCACTGCACTCCAGCCTGAGCAGAAGAATGAGATTCTGTCTCAAAACAAAACGAAAACAAAAACAAAGAAAACAAATCTAATCTAATACACTCTTGGGTATGCCTTTTTCAGAGACACGTTTCACAACCTGTGAGCCCACACTCTTGCCCAGGAACAGCTCTGAACAGAAAGAGAAACAATAAAAGCAAACAGACTAGTGACCTGACAACAACCACTCTGTCCTCTCCTCCTCATTCTTTTGGTTTCCCAGATAAGGAAAACCACAAGAACACAGTTGATCTATACATGCACATCATATGCAGATTTTGCAAGCAGTCTCCAGTTTAAAAATTGTTTTTAAAAGTGTTTATATGTGTATTTAGGGTTTGGGGCACGTTTTCTCTTTTAAAAATGCNN | pathogenic | 279,404 |
Does the chromosome 17 mutation at position 58218619 within gene MKS1 (MKS transition zone complex subunit 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Bardet-Biedl_syndrome_13', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_28', 'MKS1-related_disorder', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_1'] | AACCTGTCTGGAAATCACTTTGGCAATATGTATCACCAGCCATGTGGAGGTAGACCAGATGGAATAGACAGAGAAGACAAGAGACACTGGCTCACCTGGCTAAAGAGCTTCTCCTGCCACCCAATCACAATCTCCTCCTCTTCGTCTTCCTCTGGGCGGTGTCCACCTCCAAAGACAACAGAGTGAATCAAATGCTTGAGCCAAACCAGCACCACTTCTTGTTCTGTGGTTTATTATAACCAAAGTCCCTATTCTTATATTTGCCACAAAAACTAGCTGGAATTCAGCAATTTAGTAAGCACTCAACCTAGAGAAATGCTAGAGAGGCTGTATATGAGAGTTAGTATGAGTAGAAGCCAAGATTAGAACCCAGGAAGTCTTAGTCATGACTCTAATTTGAATAAAAGAAAATACCCCCCAGGAATTTTTTTCTGGGGGGGATGGAGTCTCACTCTGTCACCCAAGCTGGAGTGCAGTGGCACTGTTTCAGCTCACTGCAACCTCCTCTTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACACACCACCAACCCAGCTAATTTTTGTATTATCAGTAGAGATGGAGTTTTGCCATGTTAGCCAGGCTGATCTTGAATTCCCGACCTCAGGTGATCCACCTGCCTTGGTCTCCCAAAGTGCTGGGATTACAGGCGTGGGCCACGGCGCTCAGCCCGCTCCAGGAAATATCTAATCTAACTGGATATAAGAAACTGAAATTTAGATATAAGCTGAATAGCCAGCCCTTCCTCAGTCCCAACTGTCTGCATTTGCTAGAAAATAACCCTGGCATTTTTATCTTTACTATTTCTAAAGCCATATATGTAGAATCACAAACACTGAAATTTAGGAGACCAAGTGTAAGGAGAGGACAGTGAAGGCAAATAAATGATTTTTTAACAGAACCAAATCTGGCTGAATGCAGTGACTCACGCCTGTAATCCCAACATTTTGGGAGGCTAAGGTGGGAGGATCACTTGGGCCCAGGAATTTGAAACCAGCCTGGACAACATAGCAAGACCTTTTCTCTACTAAAACTTTAAAAAAAAATAAACTGAGTGTGAGTCTGTAGTCCCAGCTAGTTGGGAGGCTGAGGCAGGAGGATGGCTTGAGCCTGGGAGACCAAGGTTTACAGTGAGCTATGATCATACCACTGCACTCCAGCCTGAGCAGAAGAATGAGATTCTGTCTCAAAACAAAACGAAAACAAAAACAAAGAAAACAAATCTAATCTAATACACTCTTGGGTATGCCTTTTTCAGAGACACGTTTCACAACCTGTGAGCCCACACTCTTGCCCAGGAACAGCTCTGAACAGAAAGAGAAACAATAAAAGCAAACAGACTAGTGACCTGACAACAACCACTCTGTCCTCTCCTCCTCATTCTTTTGGTTTCCCAGATAAGGAAAACCACAAGAACACAGTTGATCTATACATGCACATCATATGCAGATTTTGCAAGCAGTCTCCAGTTTAAAAATTGTTTTTAAAAGTGTTTATATGTGTATTTAGGGTTTGGGGCACGTTTTCTCTTTTAAAAATGCCACAAATAGGACGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACAATCCTGGCTAACACGGTGAAACCCCGCCTCTACTGAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCGGAGATAGCGACACTGCACTTCAGCCTGGGGGAAAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCCACAAATAGAATGTAGGTTGCCGGGCAACTCTATAACATATCAGAAGTATAGTATTTGTTATCTCACTACATTTGGCCACAATTCTGATTAGTATCATAATTAGTATTAGATGGCACATCACCACCGTAACACCCACTGGCAGTTGGCTGAGGCCTAAAAGTGGCCAAGTCTATGAGGTCCTTCCCGAGCTCGGCAGCAGGCTGATAATGAAGAAAGTTGCTTGATGTGATTCTTTGCAGGTGGACTCTGTCAAGAAAAGCCCAAAATATTCGTTACCAGACACGCAACCAGGAGATGAACACAAAGCAAGGATGGGGGAAACAAAACAGAGGAGGTAGGGTTGCCAAGGTGTGCTGGGTGCAGACAACGGAGAGGAGGTGGGTGGGTGCGCCGTCCTATGGGGAAGAATGAAGGGGAGAGGGTGTACTGGGGGCACAGGGCTTTGAGAAACTGGGAGCAACAAAGACGTGAATGGACTTGGGTAGGTCTGTAAGGGGTTCTTAGAGGCTGTGAGTGGATGGGGGTACGGATAGTGAAAGAAGTGGGGAGCCCGGAGAAGTGGTCGGGATTGTAAGCAGAAAGTGGGGACCTCAGAACACCGAGCTCAGGTTGGAATGATCTAAGGACACAAAAGCATGGGGCCTCGGGGCTGGGGCGGTGCGACTACCGGAGGCGCAAGTTGCGCACGGGGTCCCGGGAGCGATACACTGCCTCCCCGGTGTCAGTGCTCCAGACGGTCTCCGCCATGACAGCTGCGACGCGCCGCGACTGCGCCGGAAAGCGCGCCGCTCTGTTTTCCTGGCAACGGAGACGCTGGATCGGGAGGCGACGGAGGTGCTGCGCGCGCAACCCGCCGTTCCCGTCACGGCGCCACGGTCGCAGTTGGCCACACAGTGCAAGTGCAGCCCAAGCCGAACGCCCAAGAGGGCTCCGGGGTCCTACCGATCACCGCTTACCATGTATGCGATAAAAGCTCACCGAAAGCGGGACCTCGTGCGCTGTGCAAATGAGGAAACTGGCACAGCCATCAGCCCACTTCATATAGACAGATAGATGCAGAAATGATGACGGGGACCAGGTGGCCTGAGTCTTCGCCCTCTACCTTTTCCACCATGCCACACTGCCTTCCACCCAACGCGTGAAAACTTTGGCCTGAAAATCGGGTGATGTGACTGTAAGAAATGCACCCATTATTCCCAAAGGAGTCAGGGAAGGTGATGGCCCTTAGCCAGACAAGAAAATATATTCTTGGAAGACAAAAAAAGTGTCAGAAGATTTATTAGTCTTTGTGTTGATATTCACTGAGCAAAGAAAGAAAAAACAAGGAAGTCAACAGTAAGGAAGGAAACGATGTTATTATTGAACTGATTCTTACCTTGTGTATGTTAGTTTTGGATCATTAAGCCACTTTGTTACTGCACTGGCTTCCTGAAAAGCCAAAAAAGTGACATTCACAAGTCATGCTTCGTTGTACTAGCAAAGGAAGGACATGCTGTAACCTCACGTCTGGCGTCCCGGCACTTTGGGAATGTCAACATTTATCAGCCTTGTTCACATCTAGTCCTCCTCCAACAAAGTAAGCAATTGTCCCCTGAACTCGGGAATCTCATGCCAGTTTGATGATTTGGCATTGGAAGCTCTGGGTGCCATAGCCACTAGTTGTGTAACACCGACTCACCATAAATAGCACCATTTATTTAGGATCTAGTGCAGCTTGAGCACTTTTGTTTGCATTGTCCCAAATCCTTGTAGAAGCCTCTCAAAAAGGTACTTTTATTCACTTTAAAAATGAAGTTCGTGAAGGCCAGGGTTTAAAGGACTTGCTAGCTTGCAAGTGGTAAAAGTACTGGGATTCTAGCCCAAGTTCTTCTGTCTTTTGAAGCCTAACCACCTTCCAGTTTGCCTCACAGCCTCTCACCTACCAATTTATTCCATAAACGCACACATTTCCAACCTGGGAAATAATAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCCGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGA | AACCTGTCTGGAAATCACTTTGGCAATATGTATCACCAGCCATGTGGAGGTAGACCAGATGGAATAGACAGAGAAGACAAGAGACACTGGCTCACCTGGCTAAAGAGCTTCTCCTGCCACCCAATCACAATCTCCTCCTCTTCGTCTTCCTCTGGGCGGTGTCCACCTCCAAAGACAACAGAGTGAATCAAATGCTTGAGCCAAACCAGCACCACTTCTTGTTCTGTGGTTTATTATAACCAAAGTCCCTATTCTTATATTTGCCACAAAAACTAGCTGGAATTCAGCAATTTAGTAAGCACTCAACCTAGAGAAATGCTAGAGAGGCTGTATATGAGAGTTAGTATGAGTAGAAGCCAAGATTAGAACCCAGGAAGTCTTAGTCATGACTCTAATTTGAATAAAAGAAAATACCCCCCAGGAATTTTTTTCTGGGGGGGATGGAGTCTCACTCTGTCACCCAAGCTGGAGTGCAGTGGCACTGTTTCAGCTCACTGCAACCTCCTCTTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACACACCACCAACCCAGCTAATTTTTGTATTATCAGTAGAGATGGAGTTTTGCCATGTTAGCCAGGCTGATCTTGAATTCCCGACCTCAGGTGATCCACCTGCCTTGGTCTCCCAAAGTGCTGGGATTACAGGCGTGGGCCACGGCGCTCAGCCCGCTCCAGGAAATATCTAATCTAACTGGATATAAGAAACTGAAATTTAGATATAAGCTGAATAGCCAGCCCTTCCTCAGTCCCAACTGTCTGCATTTGCTAGAAAATAACCCTGGCATTTTTATCTTTACTATTTCTAAAGCCATATATGTAGAATCACAAACACTGAAATTTAGGAGACCAAGTGTAAGGAGAGGACAGTGAAGGCAAATAAATGATTTTTTAACAGAACCAAATCTGGCTGAATGCAGTGACTCACGCCTGTAATCCCAACATTTTGGGAGGCTAAGGTGGGAGGATCACTTGGGCCCAGGAATTTGAAACCAGCCTGGACAACATAGCAAGACCTTTTCTCTACTAAAACTTTAAAAAAAAATAAACTGAGTGTGAGTCTGTAGTCCCAGCTAGTTGGGAGGCTGAGGCAGGAGGATGGCTTGAGCCTGGGAGACCAAGGTTTACAGTGAGCTATGATCATACCACTGCACTCCAGCCTGAGCAGAAGAATGAGATTCTGTCTCAAAACAAAACGAAAACAAAAACAAAGAAAACAAATCTAATCTAATACACTCTTGGGTATGCCTTTTTCAGAGACACGTTTCACAACCTGTGAGCCCACACTCTTGCCCAGGAACAGCTCTGAACAGAAAGAGAAACAATAAAAGCAAACAGACTAGTGACCTGACAACAACCACTCTGTCCTCTCCTCCTCATTCTTTTGGTTTCCCAGATAAGGAAAACCACAAGAACACAGTTGATCTATACATGCACATCATATGCAGATTTTGCAAGCAGTCTCCAGTTTAAAAATTGTTTTTAAAAGTGTTTATATGTGTATTTAGGGTTTGGGGCACGTTTTCTCTTTTAAAAATGCCACAAATAGGACGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACAATCCTGGCTAACACGGTGAAACCCCGCCTCTACTGAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCGGAGATAGCGACACTGCACTTCAGCCTGGGGGAAAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCCACAAATAGAATGTAGGTTGCCGGGCAACTCTATAACATATCAGAAGTATAGTATTTGTTATCTCACTACATTTGGCCACAATTCTGATTAGTATCATAATTAGTATTAGATGGCACATCACCACCGTAACACCCACTGGCTGAGGCCTAAAAGTGGCCAAGTCTATGAGGTCCTTCCCGAGCTCGGCAGCAGGCTGATAATGAAGAAAGTTGCTTGATGTGATTCTTTGCAGGTGGACTCTGTCAAGAAAAGCCCAAAATATTCGTTACCAGACACGCAACCAGGAGATGAACACAAAGCAAGGATGGGGGAAACAAAACAGAGGAGGTAGGGTTGCCAAGGTGTGCTGGGTGCAGACAACGGAGAGGAGGTGGGTGGGTGCGCCGTCCTATGGGGAAGAATGAAGGGGAGAGGGTGTACTGGGGGCACAGGGCTTTGAGAAACTGGGAGCAACAAAGACGTGAATGGACTTGGGTAGGTCTGTAAGGGGTTCTTAGAGGCTGTGAGTGGATGGGGGTACGGATAGTGAAAGAAGTGGGGAGCCCGGAGAAGTGGTCGGGATTGTAAGCAGAAAGTGGGGACCTCAGAACACCGAGCTCAGGTTGGAATGATCTAAGGACACAAAAGCATGGGGCCTCGGGGCTGGGGCGGTGCGACTACCGGAGGCGCAAGTTGCGCACGGGGTCCCGGGAGCGATACACTGCCTCCCCGGTGTCAGTGCTCCAGACGGTCTCCGCCATGACAGCTGCGACGCGCCGCGACTGCGCCGGAAAGCGCGCCGCTCTGTTTTCCTGGCAACGGAGACGCTGGATCGGGAGGCGACGGAGGTGCTGCGCGCGCAACCCGCCGTTCCCGTCACGGCGCCACGGTCGCAGTTGGCCACACAGTGCAAGTGCAGCCCAAGCCGAACGCCCAAGAGGGCTCCGGGGTCCTACCGATCACCGCTTACCATGTATGCGATAAAAGCTCACCGAAAGCGGGACCTCGTGCGCTGTGCAAATGAGGAAACTGGCACAGCCATCAGCCCACTTCATATAGACAGATAGATGCAGAAATGATGACGGGGACCAGGTGGCCTGAGTCTTCGCCCTCTACCTTTTCCACCATGCCACACTGCCTTCCACCCAACGCGTGAAAACTTTGGCCTGAAAATCGGGTGATGTGACTGTAAGAAATGCACCCATTATTCCCAAAGGAGTCAGGGAAGGTGATGGCCCTTAGCCAGACAAGAAAATATATTCTTGGAAGACAAAAAAAGTGTCAGAAGATTTATTAGTCTTTGTGTTGATATTCACTGAGCAAAGAAAGAAAAAACAAGGAAGTCAACAGTAAGGAAGGAAACGATGTTATTATTGAACTGATTCTTACCTTGTGTATGTTAGTTTTGGATCATTAAGCCACTTTGTTACTGCACTGGCTTCCTGAAAAGCCAAAAAAGTGACATTCACAAGTCATGCTTCGTTGTACTAGCAAAGGAAGGACATGCTGTAACCTCACGTCTGGCGTCCCGGCACTTTGGGAATGTCAACATTTATCAGCCTTGTTCACATCTAGTCCTCCTCCAACAAAGTAAGCAATTGTCCCCTGAACTCGGGAATCTCATGCCAGTTTGATGATTTGGCATTGGAAGCTCTGGGTGCCATAGCCACTAGTTGTGTAACACCGACTCACCATAAATAGCACCATTTATTTAGGATCTAGTGCAGCTTGAGCACTTTTGTTTGCATTGTCCCAAATCCTTGTAGAAGCCTCTCAAAAAGGTACTTTTATTCACTTTAAAAATGAAGTTCGTGAAGGCCAGGGTTTAAAGGACTTGCTAGCTTGCAAGTGGTAAAAGTACTGGGATTCTAGCCCAAGTTCTTCTGTCTTTTGAAGCCTAACCACCTTCCAGTTTGCCTCACAGCCTCTCACCTACCAATTTATTCCATAAACGCACACATTTCCAACCTGGGAAATAATAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCCGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGANNNNNNN | pathogenic | 279,414 |
Is the genetic variant on chromosome 17, position 58218683, gene MKS1 (MKS transition zone complex subunit 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Bardet-Biedl_syndrome_13', 'Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome'] | TAGACAGAGAAGACAAGAGACACTGGCTCACCTGGCTAAAGAGCTTCTCCTGCCACCCAATCACAATCTCCTCCTCTTCGTCTTCCTCTGGGCGGTGTCCACCTCCAAAGACAACAGAGTGAATCAAATGCTTGAGCCAAACCAGCACCACTTCTTGTTCTGTGGTTTATTATAACCAAAGTCCCTATTCTTATATTTGCCACAAAAACTAGCTGGAATTCAGCAATTTAGTAAGCACTCAACCTAGAGAAATGCTAGAGAGGCTGTATATGAGAGTTAGTATGAGTAGAAGCCAAGATTAGAACCCAGGAAGTCTTAGTCATGACTCTAATTTGAATAAAAGAAAATACCCCCCAGGAATTTTTTTCTGGGGGGGATGGAGTCTCACTCTGTCACCCAAGCTGGAGTGCAGTGGCACTGTTTCAGCTCACTGCAACCTCCTCTTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACACACCACCAACCCAGCTAATTTTTGTATTATCAGTAGAGATGGAGTTTTGCCATGTTAGCCAGGCTGATCTTGAATTCCCGACCTCAGGTGATCCACCTGCCTTGGTCTCCCAAAGTGCTGGGATTACAGGCGTGGGCCACGGCGCTCAGCCCGCTCCAGGAAATATCTAATCTAACTGGATATAAGAAACTGAAATTTAGATATAAGCTGAATAGCCAGCCCTTCCTCAGTCCCAACTGTCTGCATTTGCTAGAAAATAACCCTGGCATTTTTATCTTTACTATTTCTAAAGCCATATATGTAGAATCACAAACACTGAAATTTAGGAGACCAAGTGTAAGGAGAGGACAGTGAAGGCAAATAAATGATTTTTTAACAGAACCAAATCTGGCTGAATGCAGTGACTCACGCCTGTAATCCCAACATTTTGGGAGGCTAAGGTGGGAGGATCACTTGGGCCCAGGAATTTGAAACCAGCCTGGACAACATAGCAAGACCTTTTCTCTACTAAAACTTTAAAAAAAAATAAACTGAGTGTGAGTCTGTAGTCCCAGCTAGTTGGGAGGCTGAGGCAGGAGGATGGCTTGAGCCTGGGAGACCAAGGTTTACAGTGAGCTATGATCATACCACTGCACTCCAGCCTGAGCAGAAGAATGAGATTCTGTCTCAAAACAAAACGAAAACAAAAACAAAGAAAACAAATCTAATCTAATACACTCTTGGGTATGCCTTTTTCAGAGACACGTTTCACAACCTGTGAGCCCACACTCTTGCCCAGGAACAGCTCTGAACAGAAAGAGAAACAATAAAAGCAAACAGACTAGTGACCTGACAACAACCACTCTGTCCTCTCCTCCTCATTCTTTTGGTTTCCCAGATAAGGAAAACCACAAGAACACAGTTGATCTATACATGCACATCATATGCAGATTTTGCAAGCAGTCTCCAGTTTAAAAATTGTTTTTAAAAGTGTTTATATGTGTATTTAGGGTTTGGGGCACGTTTTCTCTTTTAAAAATGCCACAAATAGGACGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACAATCCTGGCTAACACGGTGAAACCCCGCCTCTACTGAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCGGAGATAGCGACACTGCACTTCAGCCTGGGGGAAAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCCACAAATAGAATGTAGGTTGCCGGGCAACTCTATAACATATCAGAAGTATAGTATTTGTTATCTCACTACATTTGGCCACAATTCTGATTAGTATCATAATTAGTATTAGATGGCACATCACCACCGTAACACCCACTGGCAGTTGGCTGAGGCCTAAAAGTGGCCAAGTCTATGAGGTCCTTCCCGAGCTCGGCAGCAGGCTGATAATGAAGAAAGTTGCTTGATGTGATTCTTTGCAGGTGGACTCTGTCAAGAAAAGCCCAAAATATTCGTTACCAGACACGCAACCAGGAGATGAACACAAAGCAAGGATGGGGGAAACAAAACAGAGGAGGTAGGGTTGCCAAGGTGTGCTGGGTGCAGACAACGGAGAGGAGGTGGGTGGGTGCGCCGTCCTATGGGGAAGAATGAAGGGGAGAGGGTGTACTGGGGGCACAGGGCTTTGAGAAACTGGGAGCAACAAAGACGTGAATGGACTTGGGTAGGTCTGTAAGGGGTTCTTAGAGGCTGTGAGTGGATGGGGGTACGGATAGTGAAAGAAGTGGGGAGCCCGGAGAAGTGGTCGGGATTGTAAGCAGAAAGTGGGGACCTCAGAACACCGAGCTCAGGTTGGAATGATCTAAGGACACAAAAGCATGGGGCCTCGGGGCTGGGGCGGTGCGACTACCGGAGGCGCAAGTTGCGCACGGGGTCCCGGGAGCGATACACTGCCTCCCCGGTGTCAGTGCTCCAGACGGTCTCCGCCATGACAGCTGCGACGCGCCGCGACTGCGCCGGAAAGCGCGCCGCTCTGTTTTCCTGGCAACGGAGACGCTGGATCGGGAGGCGACGGAGGTGCTGCGCGCGCAACCCGCCGTTCCCGTCACGGCGCCACGGTCGCAGTTGGCCACACAGTGCAAGTGCAGCCCAAGCCGAACGCCCAAGAGGGCTCCGGGGTCCTACCGATCACCGCTTACCATGTATGCGATAAAAGCTCACCGAAAGCGGGACCTCGTGCGCTGTGCAAATGAGGAAACTGGCACAGCCATCAGCCCACTTCATATAGACAGATAGATGCAGAAATGATGACGGGGACCAGGTGGCCTGAGTCTTCGCCCTCTACCTTTTCCACCATGCCACACTGCCTTCCACCCAACGCGTGAAAACTTTGGCCTGAAAATCGGGTGATGTGACTGTAAGAAATGCACCCATTATTCCCAAAGGAGTCAGGGAAGGTGATGGCCCTTAGCCAGACAAGAAAATATATTCTTGGAAGACAAAAAAAGTGTCAGAAGATTTATTAGTCTTTGTGTTGATATTCACTGAGCAAAGAAAGAAAAAACAAGGAAGTCAACAGTAAGGAAGGAAACGATGTTATTATTGAACTGATTCTTACCTTGTGTATGTTAGTTTTGGATCATTAAGCCACTTTGTTACTGCACTGGCTTCCTGAAAAGCCAAAAAAGTGACATTCACAAGTCATGCTTCGTTGTACTAGCAAAGGAAGGACATGCTGTAACCTCACGTCTGGCGTCCCGGCACTTTGGGAATGTCAACATTTATCAGCCTTGTTCACATCTAGTCCTCCTCCAACAAAGTAAGCAATTGTCCCCTGAACTCGGGAATCTCATGCCAGTTTGATGATTTGGCATTGGAAGCTCTGGGTGCCATAGCCACTAGTTGTGTAACACCGACTCACCATAAATAGCACCATTTATTTAGGATCTAGTGCAGCTTGAGCACTTTTGTTTGCATTGTCCCAAATCCTTGTAGAAGCCTCTCAAAAAGGTACTTTTATTCACTTTAAAAATGAAGTTCGTGAAGGCCAGGGTTTAAAGGACTTGCTAGCTTGCAAGTGGTAAAAGTACTGGGATTCTAGCCCAAGTTCTTCTGTCTTTTGAAGCCTAACCACCTTCCAGTTTGCCTCACAGCCTCTCACCTACCAATTTATTCCATAAACGCACACATTTCCAACCTGGGAAATAATAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCCGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG | TAGACAGAGAAGACAAGAGACACTGGCTCACCTGGCTAAAGAGCTTCTCCTGCCACCCAATCACAATCTCCTCCTCTTCGTCTTCCTCTGGGCGGTGTCCACCTCCAAAGACAACAGAGTGAATCAAATGCTTGAGCCAAACCAGCACCACTTCTTGTTCTGTGGTTTATTATAACCAAAGTCCCTATTCTTATATTTGCCACAAAAACTAGCTGGAATTCAGCAATTTAGTAAGCACTCAACCTAGAGAAATGCTAGAGAGGCTGTATATGAGAGTTAGTATGAGTAGAAGCCAAGATTAGAACCCAGGAAGTCTTAGTCATGACTCTAATTTGAATAAAAGAAAATACCCCCCAGGAATTTTTTTCTGGGGGGGATGGAGTCTCACTCTGTCACCCAAGCTGGAGTGCAGTGGCACTGTTTCAGCTCACTGCAACCTCCTCTTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACACACCACCAACCCAGCTAATTTTTGTATTATCAGTAGAGATGGAGTTTTGCCATGTTAGCCAGGCTGATCTTGAATTCCCGACCTCAGGTGATCCACCTGCCTTGGTCTCCCAAAGTGCTGGGATTACAGGCGTGGGCCACGGCGCTCAGCCCGCTCCAGGAAATATCTAATCTAACTGGATATAAGAAACTGAAATTTAGATATAAGCTGAATAGCCAGCCCTTCCTCAGTCCCAACTGTCTGCATTTGCTAGAAAATAACCCTGGCATTTTTATCTTTACTATTTCTAAAGCCATATATGTAGAATCACAAACACTGAAATTTAGGAGACCAAGTGTAAGGAGAGGACAGTGAAGGCAAATAAATGATTTTTTAACAGAACCAAATCTGGCTGAATGCAGTGACTCACGCCTGTAATCCCAACATTTTGGGAGGCTAAGGTGGGAGGATCACTTGGGCCCAGGAATTTGAAACCAGCCTGGACAACATAGCAAGACCTTTTCTCTACTAAAACTTTAAAAAAAAATAAACTGAGTGTGAGTCTGTAGTCCCAGCTAGTTGGGAGGCTGAGGCAGGAGGATGGCTTGAGCCTGGGAGACCAAGGTTTACAGTGAGCTATGATCATACCACTGCACTCCAGCCTGAGCAGAAGAATGAGATTCTGTCTCAAAACAAAACGAAAACAAAAACAAAGAAAACAAATCTAATCTAATACACTCTTGGGTATGCCTTTTTCAGAGACACGTTTCACAACCTGTGAGCCCACACTCTTGCCCAGGAACAGCTCTGAACAGAAAGAGAAACAATAAAAGCAAACAGACTAGTGACCTGACAACAACCACTCTGTCCTCTCCTCCTCATTCTTTTGGTTTCCCAGATAAGGAAAACCACAAGAACACAGTTGATCTATACATGCACATCATATGCAGATTTTGCAAGCAGTCTCCAGTTTAAAAATTGTTTTTAAAAGTGTTTATATGTGTATTTAGGGTTTGGGGCACGTTTTCTCTTTTAAAAATGCCACAAATAGGACGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACAATCCTGGCTAACACGGTGAAACCCCGCCTCTACTGAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCGGAGATAGCGACACTGCACTTCAGCCTGGGGGAAAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCCACAAATAGAATGTAGGTTGCCGGGCAACTCTATAACATATCAGAAGTATAGTATTTGTTATCTCACTACATTTGGCCACAATTCTGATTAGTATCATAATTAGTATTAGATGGCACATCACCACCGTAACACCCACTGGCAGTTGGCTGAGGCCTAAAAGTGGCCAAGTCTATGAGGTCCTTCCCGAGCTCGGCAGCAGGCTGATAATCTGATAATGAAGAAAGTTGCTTGATGTGATTCTTTGCAGGTGGACTCTGTCAAGAAAAGCCCAAAATATTCGTTACCAGACACGCAACCAGGAGATGAACACAAAGCAAGGATGGGGGAAACAAAACAGAGGAGGTAGGGTTGCCAAGGTGTGCTGGGTGCAGACAACGGAGAGGAGGTGGGTGGGTGCGCCGTCCTATGGGGAAGAATGAAGGGGAGAGGGTGTACTGGGGGCACAGGGCTTTGAGAAACTGGGAGCAACAAAGACGTGAATGGACTTGGGTAGGTCTGTAAGGGGTTCTTAGAGGCTGTGAGTGGATGGGGGTACGGATAGTGAAAGAAGTGGGGAGCCCGGAGAAGTGGTCGGGATTGTAAGCAGAAAGTGGGGACCTCAGAACACCGAGCTCAGGTTGGAATGATCTAAGGACACAAAAGCATGGGGCCTCGGGGCTGGGGCGGTGCGACTACCGGAGGCGCAAGTTGCGCACGGGGTCCCGGGAGCGATACACTGCCTCCCCGGTGTCAGTGCTCCAGACGGTCTCCGCCATGACAGCTGCGACGCGCCGCGACTGCGCCGGAAAGCGCGCCGCTCTGTTTTCCTGGCAACGGAGACGCTGGATCGGGAGGCGACGGAGGTGCTGCGCGCGCAACCCGCCGTTCCCGTCACGGCGCCACGGTCGCAGTTGGCCACACAGTGCAAGTGCAGCCCAAGCCGAACGCCCAAGAGGGCTCCGGGGTCCTACCGATCACCGCTTACCATGTATGCGATAAAAGCTCACCGAAAGCGGGACCTCGTGCGCTGTGCAAATGAGGAAACTGGCACAGCCATCAGCCCACTTCATATAGACAGATAGATGCAGAAATGATGACGGGGACCAGGTGGCCTGAGTCTTCGCCCTCTACCTTTTCCACCATGCCACACTGCCTTCCACCCAACGCGTGAAAACTTTGGCCTGAAAATCGGGTGATGTGACTGTAAGAAATGCACCCATTATTCCCAAAGGAGTCAGGGAAGGTGATGGCCCTTAGCCAGACAAGAAAATATATTCTTGGAAGACAAAAAAAGTGTCAGAAGATTTATTAGTCTTTGTGTTGATATTCACTGAGCAAAGAAAGAAAAAACAAGGAAGTCAACAGTAAGGAAGGAAACGATGTTATTATTGAACTGATTCTTACCTTGTGTATGTTAGTTTTGGATCATTAAGCCACTTTGTTACTGCACTGGCTTCCTGAAAAGCCAAAAAAGTGACATTCACAAGTCATGCTTCGTTGTACTAGCAAAGGAAGGACATGCTGTAACCTCACGTCTGGCGTCCCGGCACTTTGGGAATGTCAACATTTATCAGCCTTGTTCACATCTAGTCCTCCTCCAACAAAGTAAGCAATTGTCCCCTGAACTCGGGAATCTCATGCCAGTTTGATGATTTGGCATTGGAAGCTCTGGGTGCCATAGCCACTAGTTGTGTAACACCGACTCACCATAAATAGCACCATTTATTTAGGATCTAGTGCAGCTTGAGCACTTTTGTTTGCATTGTCCCAAATCCTTGTAGAAGCCTCTCAAAAAGGTACTTTTATTCACTTTAAAAATGAAGTTCGTGAAGGCCAGGGTTTAAAGGACTTGCTAGCTTGCAAGTGGTAAAAGTACTGGGATTCTAGCCCAAGTTCTTCTGTCTTTTGAAGCCTAACCACCTTCCAGTTTGCCTCACAGCCTCTCACCTACCAATTTATTCCATAAACGCACACATTTCCAACCTGGGAAATAATAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCCGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG | pathogenic | 279,416 |
Classify the chromosome 17 variant at position 58218727 affecting gene MKS1 (MKS transition zone complex subunit 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Bardet-Biedl_syndrome_13', 'Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome'] | TTCTCCTGCCACCCAATCACAATCTCCTCCTCTTCGTCTTCCTCTGGGCGGTGTCCACCTCCAAAGACAACAGAGTGAATCAAATGCTTGAGCCAAACCAGCACCACTTCTTGTTCTGTGGTTTATTATAACCAAAGTCCCTATTCTTATATTTGCCACAAAAACTAGCTGGAATTCAGCAATTTAGTAAGCACTCAACCTAGAGAAATGCTAGAGAGGCTGTATATGAGAGTTAGTATGAGTAGAAGCCAAGATTAGAACCCAGGAAGTCTTAGTCATGACTCTAATTTGAATAAAAGAAAATACCCCCCAGGAATTTTTTTCTGGGGGGGATGGAGTCTCACTCTGTCACCCAAGCTGGAGTGCAGTGGCACTGTTTCAGCTCACTGCAACCTCCTCTTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACACACCACCAACCCAGCTAATTTTTGTATTATCAGTAGAGATGGAGTTTTGCCATGTTAGCCAGGCTGATCTTGAATTCCCGACCTCAGGTGATCCACCTGCCTTGGTCTCCCAAAGTGCTGGGATTACAGGCGTGGGCCACGGCGCTCAGCCCGCTCCAGGAAATATCTAATCTAACTGGATATAAGAAACTGAAATTTAGATATAAGCTGAATAGCCAGCCCTTCCTCAGTCCCAACTGTCTGCATTTGCTAGAAAATAACCCTGGCATTTTTATCTTTACTATTTCTAAAGCCATATATGTAGAATCACAAACACTGAAATTTAGGAGACCAAGTGTAAGGAGAGGACAGTGAAGGCAAATAAATGATTTTTTAACAGAACCAAATCTGGCTGAATGCAGTGACTCACGCCTGTAATCCCAACATTTTGGGAGGCTAAGGTGGGAGGATCACTTGGGCCCAGGAATTTGAAACCAGCCTGGACAACATAGCAAGACCTTTTCTCTACTAAAACTTTAAAAAAAAATAAACTGAGTGTGAGTCTGTAGTCCCAGCTAGTTGGGAGGCTGAGGCAGGAGGATGGCTTGAGCCTGGGAGACCAAGGTTTACAGTGAGCTATGATCATACCACTGCACTCCAGCCTGAGCAGAAGAATGAGATTCTGTCTCAAAACAAAACGAAAACAAAAACAAAGAAAACAAATCTAATCTAATACACTCTTGGGTATGCCTTTTTCAGAGACACGTTTCACAACCTGTGAGCCCACACTCTTGCCCAGGAACAGCTCTGAACAGAAAGAGAAACAATAAAAGCAAACAGACTAGTGACCTGACAACAACCACTCTGTCCTCTCCTCCTCATTCTTTTGGTTTCCCAGATAAGGAAAACCACAAGAACACAGTTGATCTATACATGCACATCATATGCAGATTTTGCAAGCAGTCTCCAGTTTAAAAATTGTTTTTAAAAGTGTTTATATGTGTATTTAGGGTTTGGGGCACGTTTTCTCTTTTAAAAATGCCACAAATAGGACGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACAATCCTGGCTAACACGGTGAAACCCCGCCTCTACTGAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCGGAGATAGCGACACTGCACTTCAGCCTGGGGGAAAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCCACAAATAGAATGTAGGTTGCCGGGCAACTCTATAACATATCAGAAGTATAGTATTTGTTATCTCACTACATTTGGCCACAATTCTGATTAGTATCATAATTAGTATTAGATGGCACATCACCACCGTAACACCCACTGGCAGTTGGCTGAGGCCTAAAAGTGGCCAAGTCTATGAGGTCCTTCCCGAGCTCGGCAGCAGGCTGATAATGAAGAAAGTTGCTTGATGTGATTCTTTGCAGGTGGACTCTGTCAAGAAAAGCCCAAAATATTCGTTACCAGACACGCAACCAGGAGATGAACACAAAGCAAGGATGGGGGAAACAAAACAGAGGAGGTAGGGTTGCCAAGGTGTGCTGGGTGCAGACAACGGAGAGGAGGTGGGTGGGTGCGCCGTCCTATGGGGAAGAATGAAGGGGAGAGGGTGTACTGGGGGCACAGGGCTTTGAGAAACTGGGAGCAACAAAGACGTGAATGGACTTGGGTAGGTCTGTAAGGGGTTCTTAGAGGCTGTGAGTGGATGGGGGTACGGATAGTGAAAGAAGTGGGGAGCCCGGAGAAGTGGTCGGGATTGTAAGCAGAAAGTGGGGACCTCAGAACACCGAGCTCAGGTTGGAATGATCTAAGGACACAAAAGCATGGGGCCTCGGGGCTGGGGCGGTGCGACTACCGGAGGCGCAAGTTGCGCACGGGGTCCCGGGAGCGATACACTGCCTCCCCGGTGTCAGTGCTCCAGACGGTCTCCGCCATGACAGCTGCGACGCGCCGCGACTGCGCCGGAAAGCGCGCCGCTCTGTTTTCCTGGCAACGGAGACGCTGGATCGGGAGGCGACGGAGGTGCTGCGCGCGCAACCCGCCGTTCCCGTCACGGCGCCACGGTCGCAGTTGGCCACACAGTGCAAGTGCAGCCCAAGCCGAACGCCCAAGAGGGCTCCGGGGTCCTACCGATCACCGCTTACCATGTATGCGATAAAAGCTCACCGAAAGCGGGACCTCGTGCGCTGTGCAAATGAGGAAACTGGCACAGCCATCAGCCCACTTCATATAGACAGATAGATGCAGAAATGATGACGGGGACCAGGTGGCCTGAGTCTTCGCCCTCTACCTTTTCCACCATGCCACACTGCCTTCCACCCAACGCGTGAAAACTTTGGCCTGAAAATCGGGTGATGTGACTGTAAGAAATGCACCCATTATTCCCAAAGGAGTCAGGGAAGGTGATGGCCCTTAGCCAGACAAGAAAATATATTCTTGGAAGACAAAAAAAGTGTCAGAAGATTTATTAGTCTTTGTGTTGATATTCACTGAGCAAAGAAAGAAAAAACAAGGAAGTCAACAGTAAGGAAGGAAACGATGTTATTATTGAACTGATTCTTACCTTGTGTATGTTAGTTTTGGATCATTAAGCCACTTTGTTACTGCACTGGCTTCCTGAAAAGCCAAAAAAGTGACATTCACAAGTCATGCTTCGTTGTACTAGCAAAGGAAGGACATGCTGTAACCTCACGTCTGGCGTCCCGGCACTTTGGGAATGTCAACATTTATCAGCCTTGTTCACATCTAGTCCTCCTCCAACAAAGTAAGCAATTGTCCCCTGAACTCGGGAATCTCATGCCAGTTTGATGATTTGGCATTGGAAGCTCTGGGTGCCATAGCCACTAGTTGTGTAACACCGACTCACCATAAATAGCACCATTTATTTAGGATCTAGTGCAGCTTGAGCACTTTTGTTTGCATTGTCCCAAATCCTTGTAGAAGCCTCTCAAAAAGGTACTTTTATTCACTTTAAAAATGAAGTTCGTGAAGGCCAGGGTTTAAAGGACTTGCTAGCTTGCAAGTGGTAAAAGTACTGGGATTCTAGCCCAAGTTCTTCTGTCTTTTGAAGCCTAACCACCTTCCAGTTTGCCTCACAGCCTCTCACCTACCAATTTATTCCATAAACGCACACATTTCCAACCTGGGAAATAATAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCCGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGAAATAATTTTAACATAAAACA | TTCTCCTGCCACCCAATCACAATCTCCTCCTCTTCGTCTTCCTCTGGGCGGTGTCCACCTCCAAAGACAACAGAGTGAATCAAATGCTTGAGCCAAACCAGCACCACTTCTTGTTCTGTGGTTTATTATAACCAAAGTCCCTATTCTTATATTTGCCACAAAAACTAGCTGGAATTCAGCAATTTAGTAAGCACTCAACCTAGAGAAATGCTAGAGAGGCTGTATATGAGAGTTAGTATGAGTAGAAGCCAAGATTAGAACCCAGGAAGTCTTAGTCATGACTCTAATTTGAATAAAAGAAAATACCCCCCAGGAATTTTTTTCTGGGGGGGATGGAGTCTCACTCTGTCACCCAAGCTGGAGTGCAGTGGCACTGTTTCAGCTCACTGCAACCTCCTCTTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACACACCACCAACCCAGCTAATTTTTGTATTATCAGTAGAGATGGAGTTTTGCCATGTTAGCCAGGCTGATCTTGAATTCCCGACCTCAGGTGATCCACCTGCCTTGGTCTCCCAAAGTGCTGGGATTACAGGCGTGGGCCACGGCGCTCAGCCCGCTCCAGGAAATATCTAATCTAACTGGATATAAGAAACTGAAATTTAGATATAAGCTGAATAGCCAGCCCTTCCTCAGTCCCAACTGTCTGCATTTGCTAGAAAATAACCCTGGCATTTTTATCTTTACTATTTCTAAAGCCATATATGTAGAATCACAAACACTGAAATTTAGGAGACCAAGTGTAAGGAGAGGACAGTGAAGGCAAATAAATGATTTTTTAACAGAACCAAATCTGGCTGAATGCAGTGACTCACGCCTGTAATCCCAACATTTTGGGAGGCTAAGGTGGGAGGATCACTTGGGCCCAGGAATTTGAAACCAGCCTGGACAACATAGCAAGACCTTTTCTCTACTAAAACTTTAAAAAAAAATAAACTGAGTGTGAGTCTGTAGTCCCAGCTAGTTGGGAGGCTGAGGCAGGAGGATGGCTTGAGCCTGGGAGACCAAGGTTTACAGTGAGCTATGATCATACCACTGCACTCCAGCCTGAGCAGAAGAATGAGATTCTGTCTCAAAACAAAACGAAAACAAAAACAAAGAAAACAAATCTAATCTAATACACTCTTGGGTATGCCTTTTTCAGAGACACGTTTCACAACCTGTGAGCCCACACTCTTGCCCAGGAACAGCTCTGAACAGAAAGAGAAACAATAAAAGCAAACAGACTAGTGACCTGACAACAACCACTCTGTCCTCTCCTCCTCATTCTTTTGGTTTCCCAGATAAGGAAAACCACAAGAACACAGTTGATCTATACATGCACATCATATGCAGATTTTGCAAGCAGTCTCCAGTTTAAAAATTGTTTTTAAAAGTGTTTATATGTGTATTTAGGGTTTGGGGCACGTTTTCTCTTTTAAAAATGCCACAAATAGGACGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACAATCCTGGCTAACACGGTGAAACCCCGCCTCTACTGAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCGGAGATAGCGACACTGCACTTCAGCCTGGGGGAAAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCCACAAATAGAATGTAGGTTGCCGGGCAACTCTATAACATATCAGAAGTATAGTATTTGTTATCTCACTACATTTGGCCACAATTCTGATTAGTATCATAATTAGTATTAGATGGCACATCACCACCGTAACACCCACTGGCAGTTGGCTGAGGCCTAAAAGTGGCCAAGTCTATGAGGTCCTTCCCGAGCTCGGCAGCAGGCTGATAATGAAGAAAGTTGCTTGATGTGATTCTTTGCAGGTGGACTGTCAAGAAAAGCCCAAAATATTCGTTACCAGACACGCAACCAGGAGATGAACACAAAGCAAGGATGGGGGAAACAAAACAGAGGAGGTAGGGTTGCCAAGGTGTGCTGGGTGCAGACAACGGAGAGGAGGTGGGTGGGTGCGCCGTCCTATGGGGAAGAATGAAGGGGAGAGGGTGTACTGGGGGCACAGGGCTTTGAGAAACTGGGAGCAACAAAGACGTGAATGGACTTGGGTAGGTCTGTAAGGGGTTCTTAGAGGCTGTGAGTGGATGGGGGTACGGATAGTGAAAGAAGTGGGGAGCCCGGAGAAGTGGTCGGGATTGTAAGCAGAAAGTGGGGACCTCAGAACACCGAGCTCAGGTTGGAATGATCTAAGGACACAAAAGCATGGGGCCTCGGGGCTGGGGCGGTGCGACTACCGGAGGCGCAAGTTGCGCACGGGGTCCCGGGAGCGATACACTGCCTCCCCGGTGTCAGTGCTCCAGACGGTCTCCGCCATGACAGCTGCGACGCGCCGCGACTGCGCCGGAAAGCGCGCCGCTCTGTTTTCCTGGCAACGGAGACGCTGGATCGGGAGGCGACGGAGGTGCTGCGCGCGCAACCCGCCGTTCCCGTCACGGCGCCACGGTCGCAGTTGGCCACACAGTGCAAGTGCAGCCCAAGCCGAACGCCCAAGAGGGCTCCGGGGTCCTACCGATCACCGCTTACCATGTATGCGATAAAAGCTCACCGAAAGCGGGACCTCGTGCGCTGTGCAAATGAGGAAACTGGCACAGCCATCAGCCCACTTCATATAGACAGATAGATGCAGAAATGATGACGGGGACCAGGTGGCCTGAGTCTTCGCCCTCTACCTTTTCCACCATGCCACACTGCCTTCCACCCAACGCGTGAAAACTTTGGCCTGAAAATCGGGTGATGTGACTGTAAGAAATGCACCCATTATTCCCAAAGGAGTCAGGGAAGGTGATGGCCCTTAGCCAGACAAGAAAATATATTCTTGGAAGACAAAAAAAGTGTCAGAAGATTTATTAGTCTTTGTGTTGATATTCACTGAGCAAAGAAAGAAAAAACAAGGAAGTCAACAGTAAGGAAGGAAACGATGTTATTATTGAACTGATTCTTACCTTGTGTATGTTAGTTTTGGATCATTAAGCCACTTTGTTACTGCACTGGCTTCCTGAAAAGCCAAAAAAGTGACATTCACAAGTCATGCTTCGTTGTACTAGCAAAGGAAGGACATGCTGTAACCTCACGTCTGGCGTCCCGGCACTTTGGGAATGTCAACATTTATCAGCCTTGTTCACATCTAGTCCTCCTCCAACAAAGTAAGCAATTGTCCCCTGAACTCGGGAATCTCATGCCAGTTTGATGATTTGGCATTGGAAGCTCTGGGTGCCATAGCCACTAGTTGTGTAACACCGACTCACCATAAATAGCACCATTTATTTAGGATCTAGTGCAGCTTGAGCACTTTTGTTTGCATTGTCCCAAATCCTTGTAGAAGCCTCTCAAAAAGGTACTTTTATTCACTTTAAAAATGAAGTTCGTGAAGGCCAGGGTTTAAAGGACTTGCTAGCTTGCAAGTGGTAAAAGTACTGGGATTCTAGCCCAAGTTCTTCTGTCTTTTGAAGCCTAACCACCTTCCAGTTTGCCTCACAGCCTCTCACCTACCAATTTATTCCATAAACGCACACATTTCCAACCTGGGAAATAATAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCCGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGAAATAATTTTAACATAAAACANN | pathogenic | 279,417 |
Clinical significance of chromosome 17, position 58219175, gene MKS1: benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Bardet-Biedl_syndrome_13', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_28', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_1'] | TTACAGGCACACACCACCAACCCAGCTAATTTTTGTATTATCAGTAGAGATGGAGTTTTGCCATGTTAGCCAGGCTGATCTTGAATTCCCGACCTCAGGTGATCCACCTGCCTTGGTCTCCCAAAGTGCTGGGATTACAGGCGTGGGCCACGGCGCTCAGCCCGCTCCAGGAAATATCTAATCTAACTGGATATAAGAAACTGAAATTTAGATATAAGCTGAATAGCCAGCCCTTCCTCAGTCCCAACTGTCTGCATTTGCTAGAAAATAACCCTGGCATTTTTATCTTTACTATTTCTAAAGCCATATATGTAGAATCACAAACACTGAAATTTAGGAGACCAAGTGTAAGGAGAGGACAGTGAAGGCAAATAAATGATTTTTTAACAGAACCAAATCTGGCTGAATGCAGTGACTCACGCCTGTAATCCCAACATTTTGGGAGGCTAAGGTGGGAGGATCACTTGGGCCCAGGAATTTGAAACCAGCCTGGACAACATAGCAAGACCTTTTCTCTACTAAAACTTTAAAAAAAAATAAACTGAGTGTGAGTCTGTAGTCCCAGCTAGTTGGGAGGCTGAGGCAGGAGGATGGCTTGAGCCTGGGAGACCAAGGTTTACAGTGAGCTATGATCATACCACTGCACTCCAGCCTGAGCAGAAGAATGAGATTCTGTCTCAAAACAAAACGAAAACAAAAACAAAGAAAACAAATCTAATCTAATACACTCTTGGGTATGCCTTTTTCAGAGACACGTTTCACAACCTGTGAGCCCACACTCTTGCCCAGGAACAGCTCTGAACAGAAAGAGAAACAATAAAAGCAAACAGACTAGTGACCTGACAACAACCACTCTGTCCTCTCCTCCTCATTCTTTTGGTTTCCCAGATAAGGAAAACCACAAGAACACAGTTGATCTATACATGCACATCATATGCAGATTTTGCAAGCAGTCTCCAGTTTAAAAATTGTTTTTAAAAGTGTTTATATGTGTATTTAGGGTTTGGGGCACGTTTTCTCTTTTAAAAATGCCACAAATAGGACGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACAATCCTGGCTAACACGGTGAAACCCCGCCTCTACTGAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCGGAGATAGCGACACTGCACTTCAGCCTGGGGGAAAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCCACAAATAGAATGTAGGTTGCCGGGCAACTCTATAACATATCAGAAGTATAGTATTTGTTATCTCACTACATTTGGCCACAATTCTGATTAGTATCATAATTAGTATTAGATGGCACATCACCACCGTAACACCCACTGGCAGTTGGCTGAGGCCTAAAAGTGGCCAAGTCTATGAGGTCCTTCCCGAGCTCGGCAGCAGGCTGATAATGAAGAAAGTTGCTTGATGTGATTCTTTGCAGGTGGACTCTGTCAAGAAAAGCCCAAAATATTCGTTACCAGACACGCAACCAGGAGATGAACACAAAGCAAGGATGGGGGAAACAAAACAGAGGAGGTAGGGTTGCCAAGGTGTGCTGGGTGCAGACAACGGAGAGGAGGTGGGTGGGTGCGCCGTCCTATGGGGAAGAATGAAGGGGAGAGGGTGTACTGGGGGCACAGGGCTTTGAGAAACTGGGAGCAACAAAGACGTGAATGGACTTGGGTAGGTCTGTAAGGGGTTCTTAGAGGCTGTGAGTGGATGGGGGTACGGATAGTGAAAGAAGTGGGGAGCCCGGAGAAGTGGTCGGGATTGTAAGCAGAAAGTGGGGACCTCAGAACACCGAGCTCAGGTTGGAATGATCTAAGGACACAAAAGCATGGGGCCTCGGGGCTGGGGCGGTGCGACTACCGGAGGCGCAAGTTGCGCACGGGGTCCCGGGAGCGATACACTGCCTCCCCGGTGTCAGTGCTCCAGACGGTCTCCGCCATGACAGCTGCGACGCGCCGCGACTGCGCCGGAAAGCGCGCCGCTCTGTTTTCCTGGCAACGGAGACGCTGGATCGGGAGGCGACGGAGGTGCTGCGCGCGCAACCCGCCGTTCCCGTCACGGCGCCACGGTCGCAGTTGGCCACACAGTGCAAGTGCAGCCCAAGCCGAACGCCCAAGAGGGCTCCGGGGTCCTACCGATCACCGCTTACCATGTATGCGATAAAAGCTCACCGAAAGCGGGACCTCGTGCGCTGTGCAAATGAGGAAACTGGCACAGCCATCAGCCCACTTCATATAGACAGATAGATGCAGAAATGATGACGGGGACCAGGTGGCCTGAGTCTTCGCCCTCTACCTTTTCCACCATGCCACACTGCCTTCCACCCAACGCGTGAAAACTTTGGCCTGAAAATCGGGTGATGTGACTGTAAGAAATGCACCCATTATTCCCAAAGGAGTCAGGGAAGGTGATGGCCCTTAGCCAGACAAGAAAATATATTCTTGGAAGACAAAAAAAGTGTCAGAAGATTTATTAGTCTTTGTGTTGATATTCACTGAGCAAAGAAAGAAAAAACAAGGAAGTCAACAGTAAGGAAGGAAACGATGTTATTATTGAACTGATTCTTACCTTGTGTATGTTAGTTTTGGATCATTAAGCCACTTTGTTACTGCACTGGCTTCCTGAAAAGCCAAAAAAGTGACATTCACAAGTCATGCTTCGTTGTACTAGCAAAGGAAGGACATGCTGTAACCTCACGTCTGGCGTCCCGGCACTTTGGGAATGTCAACATTTATCAGCCTTGTTCACATCTAGTCCTCCTCCAACAAAGTAAGCAATTGTCCCCTGAACTCGGGAATCTCATGCCAGTTTGATGATTTGGCATTGGAAGCTCTGGGTGCCATAGCCACTAGTTGTGTAACACCGACTCACCATAAATAGCACCATTTATTTAGGATCTAGTGCAGCTTGAGCACTTTTGTTTGCATTGTCCCAAATCCTTGTAGAAGCCTCTCAAAAAGGTACTTTTATTCACTTTAAAAATGAAGTTCGTGAAGGCCAGGGTTTAAAGGACTTGCTAGCTTGCAAGTGGTAAAAGTACTGGGATTCTAGCCCAAGTTCTTCTGTCTTTTGAAGCCTAACCACCTTCCAGTTTGCCTCACAGCCTCTCACCTACCAATTTATTCCATAAACGCACACATTTCCAACCTGGGAAATAATAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCCGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGAAATAATTTTAACATAAAACAAAAGGCACCTTTCTAGCTCCTAAGAAATTGTCTCTCCAATGTTTCCTTTTAAAATTGTGAGTAGGCAATCTGTGCCACATGCACAACAGCTGATAAAGTGGAGCCTGATTCTAGTTTAATTTTATAACCAAATCTAACTTATAACAAAGTTAATCTGACATAATTATATGCAAAATAGTTTCTATACCACGTTATGGAAATATAAGCTATTTGTGTAAGCAACCATAATTAGTATTATTTTTATATAGGTAAACTAAGTTTTCATGTTTTGTTTACTGATTTCTATGAATCAGGATCCTTTTATGTTTAAATATTCAGCTTATTGGTCTTAAGTACATTTACCTTGTTTTTCAACCATCATCACCATCCATCGCCACTACTTTCTTATTTTTGAAAATTGAAACTCTGTTCCCATTAAATAGTAACTCCTCATTCCCCTCTTCCAGCC | TTACAGGCACACACCACCAACCCAGCTAATTTTTGTATTATCAGTAGAGATGGAGTTTTGCCATGTTAGCCAGGCTGATCTTGAATTCCCGACCTCAGGTGATCCACCTGCCTTGGTCTCCCAAAGTGCTGGGATTACAGGCGTGGGCCACGGCGCTCAGCCCGCTCCAGGAAATATCTAATCTAACTGGATATAAGAAACTGAAATTTAGATATAAGCTGAATAGCCAGCCCTTCCTCAGTCCCAACTGTCTGCATTTGCTAGAAAATAACCCTGGCATTTTTATCTTTACTATTTCTAAAGCCATATATGTAGAATCACAAACACTGAAATTTAGGAGACCAAGTGTAAGGAGAGGACAGTGAAGGCAAATAAATGATTTTTTAACAGAACCAAATCTGGCTGAATGCAGTGACTCACGCCTGTAATCCCAACATTTTGGGAGGCTAAGGTGGGAGGATCACTTGGGCCCAGGAATTTGAAACCAGCCTGGACAACATAGCAAGACCTTTTCTCTACTAAAACTTTAAAAAAAAATAAACTGAGTGTGAGTCTGTAGTCCCAGCTAGTTGGGAGGCTGAGGCAGGAGGATGGCTTGAGCCTGGGAGACCAAGGTTTACAGTGAGCTATGATCATACCACTGCACTCCAGCCTGAGCAGAAGAATGAGATTCTGTCTCAAAACAAAACGAAAACAAAAACAAAGAAAACAAATCTAATCTAATACACTCTTGGGTATGCCTTTTTCAGAGACACGTTTCACAACCTGTGAGCCCACACTCTTGCCCAGGAACAGCTCTGAACAGAAAGAGAAACAATAAAAGCAAACAGACTAGTGACCTGACAACAACCACTCTGTCCTCTCCTCCTCATTCTTTTGGTTTCCCAGATAAGGAAAACCACAAGAACACAGTTGATCTATACATGCACATCATATGCAGATTTTGCAAGCAGTCTCCAGTTTAAAAATTGTTTTTAAAAGTGTTTATATGTGTATTTAGGGTTTGGGGCACGTTTTCTCTTTTAAAAATGCCACAAATAGGACGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACAATCCTGGCTAACACGGTGAAACCCCGCCTCTACTGAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCGGAGATAGCGACACTGCACTTCAGCCTGGGGGAAAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCCACAAATAGAATGTAGGTTGCCGGGCAACTCTATAACATATCAGAAGTATAGTATTTGTTATCTCACTACATTTGGCCACAATTCTGATTAGTATCATAATTAGTATTAGATGGCACATCACCACCGTAACACCCACTGGCAGTTGGCTGAGGCCTAAAAGTGGCCAAGTCTATGAGGTCCTTCCCGAGCTCGGCAGCAGGCTGATAATGAAGAAAGTTGCTTGATGTGATTCTTTGCAGGTGGACTCTGTCAAGAAAAGCCCAAAATATTCGTTACCAGACACGCAACCAGGAGATGAACACAAAGCAAGGATGGGGGAAACAAAACAGAGGAGGTAGGGTTGCCAAGGTGTGCTGGGTGCAGACAACGGAGAGGAGGTGGGTGGGTGCGCCGTCCTATGGGGAAGAATGAAGGGGAGAGGGTGTACTGGGGGCACAGGGCTTTGAGAAACTGGGAGCAACAAAGACGTGAATGGACTTGGGTAGGTCTGTAAGGGGTTCTTAGAGGCTGTGAGTGGATGGGGGTACGGATAGTGAAAGAAGTGGGGAGCCCGGAGAAGTGGTCGGGATTGTAAGCAGAAAGTGGGGACCTCAGAACACCGAGCTCAGGTTGGAATGATCTAAGGACACAAAAGCATGGGGCCTCGGGGCTGGGGCGGTGCGACTACCGGAGGCGCAAGTTGCGCACGGGGTCCCGGCCCGGGAGCGATACACTGCCTCCCCGGTGTCAGTGCTCCAGACGGTCTCCGCCATGACAGCTGCGACGCGCCGCGACTGCGCCGGAAAGCGCGCCGCTCTGTTTTCCTGGCAACGGAGACGCTGGATCGGGAGGCGACGGAGGTGCTGCGCGCGCAACCCGCCGTTCCCGTCACGGCGCCACGGTCGCAGTTGGCCACACAGTGCAAGTGCAGCCCAAGCCGAACGCCCAAGAGGGCTCCGGGGTCCTACCGATCACCGCTTACCATGTATGCGATAAAAGCTCACCGAAAGCGGGACCTCGTGCGCTGTGCAAATGAGGAAACTGGCACAGCCATCAGCCCACTTCATATAGACAGATAGATGCAGAAATGATGACGGGGACCAGGTGGCCTGAGTCTTCGCCCTCTACCTTTTCCACCATGCCACACTGCCTTCCACCCAACGCGTGAAAACTTTGGCCTGAAAATCGGGTGATGTGACTGTAAGAAATGCACCCATTATTCCCAAAGGAGTCAGGGAAGGTGATGGCCCTTAGCCAGACAAGAAAATATATTCTTGGAAGACAAAAAAAGTGTCAGAAGATTTATTAGTCTTTGTGTTGATATTCACTGAGCAAAGAAAGAAAAAACAAGGAAGTCAACAGTAAGGAAGGAAACGATGTTATTATTGAACTGATTCTTACCTTGTGTATGTTAGTTTTGGATCATTAAGCCACTTTGTTACTGCACTGGCTTCCTGAAAAGCCAAAAAAGTGACATTCACAAGTCATGCTTCGTTGTACTAGCAAAGGAAGGACATGCTGTAACCTCACGTCTGGCGTCCCGGCACTTTGGGAATGTCAACATTTATCAGCCTTGTTCACATCTAGTCCTCCTCCAACAAAGTAAGCAATTGTCCCCTGAACTCGGGAATCTCATGCCAGTTTGATGATTTGGCATTGGAAGCTCTGGGTGCCATAGCCACTAGTTGTGTAACACCGACTCACCATAAATAGCACCATTTATTTAGGATCTAGTGCAGCTTGAGCACTTTTGTTTGCATTGTCCCAAATCCTTGTAGAAGCCTCTCAAAAAGGTACTTTTATTCACTTTAAAAATGAAGTTCGTGAAGGCCAGGGTTTAAAGGACTTGCTAGCTTGCAAGTGGTAAAAGTACTGGGATTCTAGCCCAAGTTCTTCTGTCTTTTGAAGCCTAACCACCTTCCAGTTTGCCTCACAGCCTCTCACCTACCAATTTATTCCATAAACGCACACATTTCCAACCTGGGAAATAATAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCCGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGAAATAATTTTAACATAAAACAAAAGGCACCTTTCTAGCTCCTAAGAAATTGTCTCTCCAATGTTTCCTTTTAAAATTGTGAGTAGGCAATCTGTGCCACATGCACAACAGCTGATAAAGTGGAGCCTGATTCTAGTTTAATTTTATAACCAAATCTAACTTATAACAAAGTTAATCTGACATAATTATATGCAAAATAGTTTCTATACCACGTTATGGAAATATAAGCTATTTGTGTAAGCAACCATAATTAGTATTATTTTTATATAGGTAAACTAAGTTTTCATGTTTTGTTTACTGATTTCTATGAATCAGGATCCTTTTATGTTTAAATATTCAGCTTATTGGTCTTAAGTACATTTACCTTGTTTTTCAACCATCATCACCATCCATCGCCACTACTTTCTTATTTTTGAAAATTGAAACTCTGTTCCCATTAAATAGTAACTCCTCATTCCCCTCTTC | pathogenic | 279,424 |
Is the variant located on chromosome 17 at position 58273466, gene MPO, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['MPO-related_disorder', 'Myeloperoxidase_deficiency'] | GGCACTTTTCTATCTTCCACCCTTTACAACCAGGGGTCCAGGTCTTTCCTTGCTGCACCCCCAACAGGTTCAGGGCACATTAGGGGCACTCCAGGGCATCTGGAGGATTCCTGGAACACACTGGAAAATTACTGACTCCCTCCAGTCCTTCAACTGACAGGAGGAAATTTGGGCTCCAAGAGAGTCAAGGATGGGCCCACAGCCACCCAGCGGCCCACGACGCCTGCCCCTCCTCACCGATCACCATCCCGGAGCTTCCTGAACTGGGTACCGATGATGCAGGCGAGGAGTGGGCCCACGCGGCCTTTGCGCTTCAGAGGCTCGGACACGCCGCCCATCCAGATGTCGATGTTGTTGGGCGTGCCATACTGCTCCATCAGTTTCCTCGCCAATTTCAGGTTCCTCAGCACCGTGCCCAGCTGGCCCACAGTTTCAGGCTGCGGGAGCCCACAGAAGCGCCTCCAGGCATTGTATCCTGCATGGGGGAGGGGACAGGTGGCTATGGGCAGGTCTCTCTGCTTCAAGGTGGGGAGGTCACTGGAGACAGCAGGGAAGATTCACATATCGCCAGCAGCCCAGAAAACCCACCTTCCCAACACAACCAAGGTCATAGAGGGAGGGAAGGACCTCACCTCAAGGAACCCTGTACCTTTGGCTTAGACCAAGGGGCACAACTGGGCCTCTCTGGGACCCTCTCTGTCTTTCTCTTGCCCTCCTACCATAAGGCAAACCCTAAACTGCCACAGTTCCTGCTGGGTCCAAGAATAGGGACATCTCCTTGTCCCCCTCCAGAGCAGCCCGATGTGTCTGTCTCTGACCCATGAGAGGTGAAATGTGTCTAGAAGCCTCAGCCACATGGGCTACCCCATAACATAGGCACAGGCTTTGAGGTTAGGCTAATCTGGCTTCAAATTTCAGCTTTGCCACTGACTTGGCTAGAGAACCTGGCCAGGTTCTGAATCTCATCAAGCCTCAGTTTCCTCATCAGTAAAATGAAGGCAATAATAATCTCTTCCCCCAGAGTTAACGTACAATGAAGCAAAATGGAATGATGACAGAGACAGATTTTCAGACTGTGGGTTATCATTATGATGACGATGCCCCTAATATGAGAATTACAGCATGCAAAGGAGGTTGAGAGGAGCTGGAAATTTATCAGGTGGGTCCGGGAAAAGGCAGGGGCCTGGCCTCAGGCTACTTCCTGAGAGCAAAGTGCCTCTAATATGCTTTGGAGAGGGCAGGGACCCTAGAGTGGGAAGGGGGGTGATGGGCTACCTAGGAGGCAGCTCAGGGGAGGTGAGCATCAGGGGAGACTCCTGCAGCCCCTCACCTGGGAGGCCGTGGTCCCTGCTGCGCTGCATGTTCAGAGCAGGCAGGTCCAGCCCAATCCTCATGACCTGCTCAAACAATCGCTCCCGGATCTCATCCACTGCAATTTGGTTCTGACGATTCAGCTTGGCAGGGGTGGCCATGAGGCCCCGGAGGATGGGGTCAATGCCACCTGGGGACCAGAGGAGCCAGGTCAGGGGAAGTATCTGGCTCAGTATCAGAGCTCAGATTGGAGTCAGGGACAAGTCCAGGTAGGGTCAGGAGGATTCGAGAAGAGGGCTGGGCACAAGCAGTGCCTGGTGCCAAGGTGGTGGCCCCAGTGAGCAGGTCCTCACCGGTCACTACATGACCCCAGGGACATATAGGTCTCAGGAGATTATGCCATTCAGACTTGCAAGATTGGGATGCTCCCAGGCCCTGGCTTCCTGGGTCACAGCGAGCCACAACACATAGGAAGTAGCCAGTTCCCTCTGAGGGCCATCCCCACCCCACTGTTTATTATCAGATATGGAAGCAGAGTCAGAGGAACTGAGGCTAGAGAGTCAGACCAGATCTCCAAGATGGGAGGAAAGCAGACTGCTCCCCACCCTAGCTCCCTAGAGCCAAGGTGATCCCTACCCCACCTTTAGCTGTCAGCCCACTCGCTCCTGGCCTAGGTCCTGCTTACCTTCCAGCACGACCCTCCAGGAGGCAAAAAAGACCCTGCTGAGGGGGACACGGGGGTTGGGTTCCATGGGCTGGTACCGATTGTCCAGGCGGAACATGAAGGGTTGGATGAGGGTGTGGCCGTAGCGGAAGGCATTGGTGAAGACGTTGGCGATGCGTGGGTCCACTGAGTCATTGTAGGAACGGTACGTGGGCAGGTACTTCCTCATGGCCGTTGGCCCCAGCACCAGGGGCAGGTAGTCCCGGTAAGTGATGATCTAAAGACAAGTCATTTGGAATGGCCTCTCCACCCACTCCTCCACAGCAAATGCCGCCTGGCAGCACAGGAGGGCCAGAGTCTCTGCCTGCTCTTGGCTTCGGGGACCCCTTCCATCCCTCTATGGTCAGGGAATAGCCTCCCACAATACCGGACCTGGGCCTAACAGAGTGGCACTGAGAGGCATAAATAGAGTTCTACTGCTTGCTGGCTGGGTGACCTTGGACCAATTATTAACCTCTCTGAGCCTGAGTTCCTCAAATGTACATTAAGGATAATTATATTGCCCTCTGCCTTAGAGGACTAAATAGCAAATCACTTTTTTAGTCATTGTGATAACTTCCTTGTCCTCAAGTTATTAATGTCTCATTTCTGCAACTATCTTATAAAGTCCTTGAGAGCAAGGGAAATTGAAGTTGTTGAAATTCTTCACAGTGCCCACCAAGTGCCTGCCCACAGTAAGGCTCAGTTTAGGTTTGTGGAAAGCAGGGAGGCAGGAAGGAACGAAGGGCCATTCTGGCATGATTTTCCCTGTGAAAAGTGAAGACATGGAATAGTCTCACTCTACATTCTAGAGTCTAGAAGTTATTTTGGAGTGTAAATGAATTTCACTTGAGTTCTTAGTGCAAATCAAAAACTCACCCTTAGCACCGAAAACTCTCTCCTCCAGAATCTAGGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGTGTGTGTATGTCTGCCTCTGCCTCTGAGGGAGAGGGTGGGGGCAATGAAGCACCAGATGTTGAGAGACAGAACCAGGAACATTGCCCCAGGGGTAAATGAGGCTAAGGACATTGGGTGGATTATGACAGAGCCAAAAAGAAGAGGTGAGTGGGCTGAACACAGTGACTCGTGCCTGTAATCCCAGGGATTTGGGAGGTCGAGGAGGGCGGATTACTTGAGCCCAGGAGTTTGAGACCACACTGGGTAACGTGGCGAAACCCCGTCTCTACAAAAAATACAAAAATTAGCCGGGCGTGGTGGCCCGTGCTTGAAATCCCAGCTACTCAGAAGGCTGAGATGGGAGAATGGCTTGAGCCTGAAAGGTGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCAACAGGGTAAGACCCTGTATCAAAAAATAAAAATAAAATAATAATAATAATTTTTAAATTTTATTTTATTTATTTATTTATTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGCAGCGCCATCTCAGCTCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGCATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCCGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCCCTATAATTTTTTTAATTTTAAAAAGAAGAGGTGAGTGGGTAAAGGAGCTAAGAGTGACAGTGAGATGGAGGGAAGAAGAATTTACTGAACAGCTACTTGGGCGCTAAACCAAACATTCAACCCTCCCAACACCAATAACAGACCCACAGGAAAGAAGACTGCAGGGAGCAAACCTGCGAAGAAGGAGAGGGAAGGGAAGGAGGCTTTGTCAAGCACTTACTATCTGAAAGGTGTTTTCATATATGTATTATAATCCTTACAGCCTCATGGATGAAGAAGGCAAGGCTCAGGAGCGTTAGGAACTTGCCCAAGGTCACACAGCTAGGATGTTGCAGGGACACATCTGGATCC | GGCACTTTTCTATCTTCCACCCTTTACAACCAGGGGTCCAGGTCTTTCCTTGCTGCACCCCCAACAGGTTCAGGGCACATTAGGGGCACTCCAGGGCATCTGGAGGATTCCTGGAACACACTGGAAAATTACTGACTCCCTCCAGTCCTTCAACTGACAGGAGGAAATTTGGGCTCCAAGAGAGTCAAGGATGGGCCCACAGCCACCCAGCGGCCCACGACGCCTGCCCCTCCTCACCGATCACCATCCCGGAGCTTCCTGAACTGGGTACCGATGATGCAGGCGAGGAGTGGGCCCACGCGGCCTTTGCGCTTCAGAGGCTCGGACACGCCGCCCATCCAGATGTCGATGTTGTTGGGCGTGCCATACTGCTCCATCAGTTTCCTCGCCAATTTCAGGTTCCTCAGCACCGTGCCCAGCTGGCCCACAGTTTCAGGCTGCGGGAGCCCACAGAAGCGCCTCCAGGCATTGTATCCTGCATGGGGGAGGGGACAGGTGGCTATGGGCAGGTCTCTCTGCTTCAAGGTGGGGAGGTCACTGGAGACAGCAGGGAAGATTCACATATCGCCAGCAGCCCAGAAAACCCACCTTCCCAACACAACCAAGGTCATAGAGGGAGGGAAGGACCTCACCTCAAGGAACCCTGTACCTTTGGCTTAGACCAAGGGGCACAACTGGGCCTCTCTGGGACCCTCTCTGTCTTTCTCTTGCCCTCCTACCATAAGGCAAACCCTAAACTGCCACAGTTCCTGCTGGGTCCAAGAATAGGGACATCTCCTTGTCCCCCTCCAGAGCAGCCCGATGTGTCTGTCTCTGACCCATGAGAGGTGAAATGTGTCTAGAAGCCTCAGCCACATGGGCTACCCCATAACATAGGCACAGGCTTTGAGGTTAGGCTAATCTGGCTTCAAATTTCAGCTTTGCCACTGACTTGGCTAGAGAACCTGGCCAGGTTCTGAATCTCATCAAGCCTCAGTTTCCTCATCAGTAAAATGAAGGCAATAATAATCTCTTCCCCCAGAGTTAACGTACAATGAAGCAAAATGGAATGATGACAGAGACAGATTTTCAGACTGTGGGTTATCATTATGATGACGATGCCCCTAATATGAGAATTACAGCATGCAAAGGAGGTTGAGAGGAGCTGGAAATTTATCAGGTGGGTCCGGGAAAAGGCAGGGGCCTGGCCTCAGGCTACTTCCTGAGAGCAAAGTGCCTCTAATATGCTTTGGAGAGGGCAGGGACCCTAGAGTGGGAAGGGGGGTGATGGGCTACCTAGGAGGCAGCTCAGGGGAGGTGAGCATCAGGGGAGACTCCTGCAGCCCCTCACCTGGGAGGCCGTGGTCCCTGCTGCGCTGCATGTTCAGAGCAGGCAGGTCCAGCCCAATCCTCATGACCTGCTCAAACAATCGCTCCCGGATCTCATCCACTGCAATTTGGTTCTGACGATTCAGCTTGGCAGGGGTGGCCATGAGGCCCCGGAGGATGGGGTCAATGCCACCTGGGGACCAGAGGAGCCAGGTCAGGGGAAGTATCTGGCTCAGTATCAGAGCTCAGATTGGAGTCAGGGACAAGTCCAGGTAGGGTCAGGAGGATTCGAGAAGAGGGCTGGGCACAAGCAGTGCCTGGTGCCAAGGTGGTGGCCCCAGTGAGCAGGTCCTCACCGGTCACTACATGACCCCAGGGACATATAGGTCTCAGGAGATTATGCCATTCAGACTTGCAAGATTGGGATGCTCCCAGGCCCTGGCTTCCTGGGTCACAGCGAGCCACAACACATAGGAAGTAGCCAGTTCCCTCTGAGGGCCATCCCCACCCCACTGTTTATTATCAGATATGGAAGCAGAGTCAGAGGAACTGAGGCTAGAGAGTCAGACCAGATCTCCAAGATGGGAGGAAAGCAGACTGCTCCCCACCCTAGCTCCCTAGAGCCAAGGTGATCCCTACCCCACCTTTAGCTGTCAGCCCACTCGCTCCTGGCCTAGGTCCTGCTTACCTTCCAGCACGACCCTCCAGGAGGCAAAAAAGACCCTGCTGAGGGGGACACGGGGGCTGGTACCGATTGTCCAGGCGGAACATGAAGGGTTGGATGAGGGTGTGGCCGTAGCGGAAGGCATTGGTGAAGACGTTGGCGATGCGTGGGTCCACTGAGTCATTGTAGGAACGGTACGTGGGCAGGTACTTCCTCATGGCCGTTGGCCCCAGCACCAGGGGCAGGTAGTCCCGGTAAGTGATGATCTAAAGACAAGTCATTTGGAATGGCCTCTCCACCCACTCCTCCACAGCAAATGCCGCCTGGCAGCACAGGAGGGCCAGAGTCTCTGCCTGCTCTTGGCTTCGGGGACCCCTTCCATCCCTCTATGGTCAGGGAATAGCCTCCCACAATACCGGACCTGGGCCTAACAGAGTGGCACTGAGAGGCATAAATAGAGTTCTACTGCTTGCTGGCTGGGTGACCTTGGACCAATTATTAACCTCTCTGAGCCTGAGTTCCTCAAATGTACATTAAGGATAATTATATTGCCCTCTGCCTTAGAGGACTAAATAGCAAATCACTTTTTTAGTCATTGTGATAACTTCCTTGTCCTCAAGTTATTAATGTCTCATTTCTGCAACTATCTTATAAAGTCCTTGAGAGCAAGGGAAATTGAAGTTGTTGAAATTCTTCACAGTGCCCACCAAGTGCCTGCCCACAGTAAGGCTCAGTTTAGGTTTGTGGAAAGCAGGGAGGCAGGAAGGAACGAAGGGCCATTCTGGCATGATTTTCCCTGTGAAAAGTGAAGACATGGAATAGTCTCACTCTACATTCTAGAGTCTAGAAGTTATTTTGGAGTGTAAATGAATTTCACTTGAGTTCTTAGTGCAAATCAAAAACTCACCCTTAGCACCGAAAACTCTCTCCTCCAGAATCTAGGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGTGTGTGTATGTCTGCCTCTGCCTCTGAGGGAGAGGGTGGGGGCAATGAAGCACCAGATGTTGAGAGACAGAACCAGGAACATTGCCCCAGGGGTAAATGAGGCTAAGGACATTGGGTGGATTATGACAGAGCCAAAAAGAAGAGGTGAGTGGGCTGAACACAGTGACTCGTGCCTGTAATCCCAGGGATTTGGGAGGTCGAGGAGGGCGGATTACTTGAGCCCAGGAGTTTGAGACCACACTGGGTAACGTGGCGAAACCCCGTCTCTACAAAAAATACAAAAATTAGCCGGGCGTGGTGGCCCGTGCTTGAAATCCCAGCTACTCAGAAGGCTGAGATGGGAGAATGGCTTGAGCCTGAAAGGTGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCAACAGGGTAAGACCCTGTATCAAAAAATAAAAATAAAATAATAATAATAATTTTTAAATTTTATTTTATTTATTTATTTATTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGCAGCGCCATCTCAGCTCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGCATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCCGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCCCTATAATTTTTTTAATTTTAAAAAGAAGAGGTGAGTGGGTAAAGGAGCTAAGAGTGACAGTGAGATGGAGGGAAGAAGAATTTACTGAACAGCTACTTGGGCGCTAAACCAAACATTCAACCCTCCCAACACCAATAACAGACCCACAGGAAAGAAGACTGCAGGGAGCAAACCTGCGAAGAAGGAGAGGGAAGGGAAGGAGGCTTTGTCAAGCACTTACTATCTGAAAGGTGTTTTCATATATGTATTATAATCCTTACAGCCTCATGGATGAAGAAGGCAAGGCTCAGGAGCGTTAGGAACTTGCCCAAGGTCACACAGCTAGGATGTTGCAGGGACACATCTGGATCCNNNNNNNNNNNNNN | pathogenic | 279,439 |
Clinical significance of chromosome 17, position 58275625, gene MPO: benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Myeloperoxidase_deficiency'] | CACTGAGTCATTGTAGGAACGGTACGTGGGCAGGTACTTCCTCATGGCCGTTGGCCCCAGCACCAGGGGCAGGTAGTCCCGGTAAGTGATGATCTAAAGACAAGTCATTTGGAATGGCCTCTCCACCCACTCCTCCACAGCAAATGCCGCCTGGCAGCACAGGAGGGCCAGAGTCTCTGCCTGCTCTTGGCTTCGGGGACCCCTTCCATCCCTCTATGGTCAGGGAATAGCCTCCCACAATACCGGACCTGGGCCTAACAGAGTGGCACTGAGAGGCATAAATAGAGTTCTACTGCTTGCTGGCTGGGTGACCTTGGACCAATTATTAACCTCTCTGAGCCTGAGTTCCTCAAATGTACATTAAGGATAATTATATTGCCCTCTGCCTTAGAGGACTAAATAGCAAATCACTTTTTTAGTCATTGTGATAACTTCCTTGTCCTCAAGTTATTAATGTCTCATTTCTGCAACTATCTTATAAAGTCCTTGAGAGCAAGGGAAATTGAAGTTGTTGAAATTCTTCACAGTGCCCACCAAGTGCCTGCCCACAGTAAGGCTCAGTTTAGGTTTGTGGAAAGCAGGGAGGCAGGAAGGAACGAAGGGCCATTCTGGCATGATTTTCCCTGTGAAAAGTGAAGACATGGAATAGTCTCACTCTACATTCTAGAGTCTAGAAGTTATTTTGGAGTGTAAATGAATTTCACTTGAGTTCTTAGTGCAAATCAAAAACTCACCCTTAGCACCGAAAACTCTCTCCTCCAGAATCTAGGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGTGTGTGTATGTCTGCCTCTGCCTCTGAGGGAGAGGGTGGGGGCAATGAAGCACCAGATGTTGAGAGACAGAACCAGGAACATTGCCCCAGGGGTAAATGAGGCTAAGGACATTGGGTGGATTATGACAGAGCCAAAAAGAAGAGGTGAGTGGGCTGAACACAGTGACTCGTGCCTGTAATCCCAGGGATTTGGGAGGTCGAGGAGGGCGGATTACTTGAGCCCAGGAGTTTGAGACCACACTGGGTAACGTGGCGAAACCCCGTCTCTACAAAAAATACAAAAATTAGCCGGGCGTGGTGGCCCGTGCTTGAAATCCCAGCTACTCAGAAGGCTGAGATGGGAGAATGGCTTGAGCCTGAAAGGTGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCAACAGGGTAAGACCCTGTATCAAAAAATAAAAATAAAATAATAATAATAATTTTTAAATTTTATTTTATTTATTTATTTATTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGCAGCGCCATCTCAGCTCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGCATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCCGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCCCTATAATTTTTTTAATTTTAAAAAGAAGAGGTGAGTGGGTAAAGGAGCTAAGAGTGACAGTGAGATGGAGGGAAGAAGAATTTACTGAACAGCTACTTGGGCGCTAAACCAAACATTCAACCCTCCCAACACCAATAACAGACCCACAGGAAAGAAGACTGCAGGGAGCAAACCTGCGAAGAAGGAGAGGGAAGGGAAGGAGGCTTTGTCAAGCACTTACTATCTGAAAGGTGTTTTCATATATGTATTATAATCCTTACAGCCTCATGGATGAAGAAGGCAAGGCTCAGGAGCGTTAGGAACTTGCCCAAGGTCACACAGCTAGGATGTTGCAGGGACACATCTGGATCCCGTGTGCCCGGTGTTCAAGACGGCCTACCTGGACCATGGCCCCCACGATCTTCCGGGCTTCCTGGTAGAGCCTCTCCCCATCCCACCTAGGGTTCAGGCTCTTGAGCTCTGTGGCCAGCCGGTTGTGCTCCCGAAGTAAGAGGGTGTGCATGGAGGTGAGCTCGGGCATCTCACTGGAACGGGTGTCCCCTTGGGGAGGCAAAAGCCACTGTCATTCTTAAGGCCTCCATCCCAGAAAAGATTTGCTCCACTGAAACCCCCTCCCCAGCCAAGGCCTGAAATGCCTCCTACTCACCCCTCCTCCCCATCCATCTTTTCAAACTATCCCCAATTTACACTCCTCTAGGAGGCCTTCCCTGATGCCCCAGTCCACAATGATAGCTTCTGCCTCAGCTCAGGGCCGCTGCTGGTTGGGGATGCTCATTCAATAGGTATCACTTCCAACACATGACATGCCACTTTCCTGTACCTGAAACTGGGAGCTCCTTGAGCACAGGACCAAGGCTTGTGCCTTTTTATATTTTACCCTCCCTCCTAGCACACATATGGATACATGGGGCTTAACAGAGTGCCTGGTACAAAGTATGAGACTTATGAACACTGCTTGGTTCATTGATTCTCTTGATTCCAAGGAGTGTCTGGGAAGAAGCATGCGTGTTGGCACAGCCTACATCCATGCCCATGTCTGATGCAGCTAACGATCACAGCACTCTTTCCTGCTAAAATTGGATGCAACCTCAGAATCCTTCTCAACACAGGACTCCAGAAAGCCACTACCATTTGAACAGAGTTGTCAGCCCTGCCCTTTACTACATGCCAATGGTGCAGCCTGCCCCAGGGGAGAGGGCTAGGACATGAGATATGTGGAGTCCACACCTGAGACTGTTCAAGAAAACTAAGCAGATCCCCCCTGGTTCCCCTAGTCCTCCCAGAACCCTTCTCTGCAGGGGCCAGAGGGCTAGGGTCAGGACACTAGGGTCAGTCCTTGCCAGCTCTAGAAGCTGGTGGAAAGGAAATTCTCTGAGAGCAGCATCTCCATCCATGAACAGCTAGAGGTCATAATGACCCAGGCTTGGGACATGGGGCTCATCAAAGCCAGGCTGTGGGCAGCTGAGTCTGGCTAAGGAGGGCTGCCCTTGCCTAACTAGCCCAGAAGAGGTCGGGCATCTCTTGCAGAAAGTCCGACCTGGATCCTCCTCCCAGGGTCCCAGCCAGGGAGAGACCAGCAGGAACCATCAGGAGGAGGCAGAGGGAGGCCAGAGGAAAGGGCCTGAGGTCCACTATTGGGTTTACATTTAAAAACACTGGAAAATGGCTGCGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGTTAAGGTGGGCAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACACCATCTCTACTAAAAATACAAAAAATTAGCCAAGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATCACTTAAACCCAGTTGGCAGAGGTTGCAGTGAGCCGAGACTGTGCCACTGTACTCAAGCCTGGGTGACAGAGTGAGATTCCGTCTTAGAAAAAAAAAAAACACTGGAAAATGTCTGGTCATGGCTGCCATCACTGCCCCAATTGTGTCTCCAAAACTGCCAATTGTTTACATTTAAAATCCCATCATCTCTTATTATGGGTAATTAAGATGCGCAGGAGGGGATATTTTGGAGCAGTGTGGTCCAACTCAACCTTCCGAGATGATGAAAATATTTTACATCTGTGCCACCCAATAGGGGGAGCCACTAGACTGTAAGGCAATTGAGCATTTGAAATGTGGTTAGCACCGCTGAGAAACTGGGTTTATTTAATTTAAAATAACTAAAATTAAAATAGCCACATGCAGCTAGTGGCTACCACATTGGATAGTGTCGCTCTAGAGGGTGAGGGCACCACAGCGTTCTCTGTCCTTTAGTTCCCTGCCCCTGAGGGATTTGACTCTCTTGTCTTCCAGAGTCCAGAAGGGAAAAAAGGGACAGAGAAAGCAATGGACTGATGGACAGAGGCTCCTCAGCCATGCCTGGGTCTCCATCTTAGGGTTGGAGAGGTTGTTTGCTTTTCTGCTTTTCTGGCTCCATCTGACTTGTTACC | CACTGAGTCATTGTAGGAACGGTACGTGGGCAGGTACTTCCTCATGGCCGTTGGCCCCAGCACCAGGGGCAGGTAGTCCCGGTAAGTGATGATCTAAAGACAAGTCATTTGGAATGGCCTCTCCACCCACTCCTCCACAGCAAATGCCGCCTGGCAGCACAGGAGGGCCAGAGTCTCTGCCTGCTCTTGGCTTCGGGGACCCCTTCCATCCCTCTATGGTCAGGGAATAGCCTCCCACAATACCGGACCTGGGCCTAACAGAGTGGCACTGAGAGGCATAAATAGAGTTCTACTGCTTGCTGGCTGGGTGACCTTGGACCAATTATTAACCTCTCTGAGCCTGAGTTCCTCAAATGTACATTAAGGATAATTATATTGCCCTCTGCCTTAGAGGACTAAATAGCAAATCACTTTTTTAGTCATTGTGATAACTTCCTTGTCCTCAAGTTATTAATGTCTCATTTCTGCAACTATCTTATAAAGTCCTTGAGAGCAAGGGAAATTGAAGTTGTTGAAATTCTTCACAGTGCCCACCAAGTGCCTGCCCACAGTAAGGCTCAGTTTAGGTTTGTGGAAAGCAGGGAGGCAGGAAGGAACGAAGGGCCATTCTGGCATGATTTTCCCTGTGAAAAGTGAAGACATGGAATAGTCTCACTCTACATTCTAGAGTCTAGAAGTTATTTTGGAGTGTAAATGAATTTCACTTGAGTTCTTAGTGCAAATCAAAAACTCACCCTTAGCACCGAAAACTCTCTCCTCCAGAATCTAGGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGTGTGTGTATGTCTGCCTCTGCCTCTGAGGGAGAGGGTGGGGGCAATGAAGCACCAGATGTTGAGAGACAGAACCAGGAACATTGCCCCAGGGGTAAATGAGGCTAAGGACATTGGGTGGATTATGACAGAGCCAAAAAGAAGAGGTGAGTGGGCTGAACACAGTGACTCGTGCCTGTAATCCCAGGGATTTGGGAGGTCGAGGAGGGCGGATTACTTGAGCCCAGGAGTTTGAGACCACACTGGGTAACGTGGCGAAACCCCGTCTCTACAAAAAATACAAAAATTAGCCGGGCGTGGTGGCCCGTGCTTGAAATCCCAGCTACTCAGAAGGCTGAGATGGGAGAATGGCTTGAGCCTGAAAGGTGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCAACAGGGTAAGACCCTGTATCAAAAAATAAAAATAAAATAATAATAATAATTTTTAAATTTTATTTTATTTATTTATTTATTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGCAGCGCCATCTCAGCTCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGCATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCCGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCCCTATAATTTTTTTAATTTTAAAAAGAAGAGGTGAGTGGGTAAAGGAGCTAAGAGTGACAGTGAGATGGAGGGAAGAAGAATTTACTGAACAGCTACTTGGGCGCTAAACCAAACATTCAACCCTCCCAACACCAATAACAGACCCACAGGAAAGAAGACTGCAGGGAGCAAACCTGCGAAGAAGGAGAGGGAAGGGAAGGAGGCTTTGTCAAGCACTTACTATCTGAAAGGTGTTTTCATATATGTATTATAATCCTTACAGCCTCATGGATGAAGAAGGCAAGGCTCAGGAGCGTTAGGAACTTGCCCAAGGTCACACAGCTAGGATGTTGCAGGGACACATCTGGATCCCGTGTGCCCGGTGTTCAAGACGGCCTACCTGGACCATGGCCCCCACGATCTTCCGGGCTTCCTGGTAGAGCCTCTCCCCATCCCACCTAGGGTTCAGGCTCTTGAGCTCTGTGCCAGCCGGTTGTGCTCCCGAAGTAAGAGGGTGTGCATGGAGGTGAGCTCGGGCATCTCACTGGAACGGGTGTCCCCTTGGGGAGGCAAAAGCCACTGTCATTCTTAAGGCCTCCATCCCAGAAAAGATTTGCTCCACTGAAACCCCCTCCCCAGCCAAGGCCTGAAATGCCTCCTACTCACCCCTCCTCCCCATCCATCTTTTCAAACTATCCCCAATTTACACTCCTCTAGGAGGCCTTCCCTGATGCCCCAGTCCACAATGATAGCTTCTGCCTCAGCTCAGGGCCGCTGCTGGTTGGGGATGCTCATTCAATAGGTATCACTTCCAACACATGACATGCCACTTTCCTGTACCTGAAACTGGGAGCTCCTTGAGCACAGGACCAAGGCTTGTGCCTTTTTATATTTTACCCTCCCTCCTAGCACACATATGGATACATGGGGCTTAACAGAGTGCCTGGTACAAAGTATGAGACTTATGAACACTGCTTGGTTCATTGATTCTCTTGATTCCAAGGAGTGTCTGGGAAGAAGCATGCGTGTTGGCACAGCCTACATCCATGCCCATGTCTGATGCAGCTAACGATCACAGCACTCTTTCCTGCTAAAATTGGATGCAACCTCAGAATCCTTCTCAACACAGGACTCCAGAAAGCCACTACCATTTGAACAGAGTTGTCAGCCCTGCCCTTTACTACATGCCAATGGTGCAGCCTGCCCCAGGGGAGAGGGCTAGGACATGAGATATGTGGAGTCCACACCTGAGACTGTTCAAGAAAACTAAGCAGATCCCCCCTGGTTCCCCTAGTCCTCCCAGAACCCTTCTCTGCAGGGGCCAGAGGGCTAGGGTCAGGACACTAGGGTCAGTCCTTGCCAGCTCTAGAAGCTGGTGGAAAGGAAATTCTCTGAGAGCAGCATCTCCATCCATGAACAGCTAGAGGTCATAATGACCCAGGCTTGGGACATGGGGCTCATCAAAGCCAGGCTGTGGGCAGCTGAGTCTGGCTAAGGAGGGCTGCCCTTGCCTAACTAGCCCAGAAGAGGTCGGGCATCTCTTGCAGAAAGTCCGACCTGGATCCTCCTCCCAGGGTCCCAGCCAGGGAGAGACCAGCAGGAACCATCAGGAGGAGGCAGAGGGAGGCCAGAGGAAAGGGCCTGAGGTCCACTATTGGGTTTACATTTAAAAACACTGGAAAATGGCTGCGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGTTAAGGTGGGCAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACACCATCTCTACTAAAAATACAAAAAATTAGCCAAGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATCACTTAAACCCAGTTGGCAGAGGTTGCAGTGAGCCGAGACTGTGCCACTGTACTCAAGCCTGGGTGACAGAGTGAGATTCCGTCTTAGAAAAAAAAAAAACACTGGAAAATGTCTGGTCATGGCTGCCATCACTGCCCCAATTGTGTCTCCAAAACTGCCAATTGTTTACATTTAAAATCCCATCATCTCTTATTATGGGTAATTAAGATGCGCAGGAGGGGATATTTTGGAGCAGTGTGGTCCAACTCAACCTTCCGAGATGATGAAAATATTTTACATCTGTGCCACCCAATAGGGGGAGCCACTAGACTGTAAGGCAATTGAGCATTTGAAATGTGGTTAGCACCGCTGAGAAACTGGGTTTATTTAATTTAAAATAACTAAAATTAAAATAGCCACATGCAGCTAGTGGCTACCACATTGGATAGTGTCGCTCTAGAGGGTGAGGGCACCACAGCGTTCTCTGTCCTTTAGTTCCCTGCCCCTGAGGGATTTGACTCTCTTGTCTTCCAGAGTCCAGAAGGGAAAAAAGGGACAGAGAAAGCAATGGACTGATGGACAGAGGCTCCTCAGCCATGCCTGGGTCTCCATCTTAGGGTTGGAGAGGTTGTTTGCTTTTCTGCTTTTCTGGCTCCATCTGACTTGTTACCN | pathogenic | 279,442 |
Is the genetic variant on chromosome 17, position 58692684, gene RAD51C (RAD51 paralog C), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Hereditary_cancer-predisposing_syndrome'] | GATAGTATTTATGCATCCACTGAGCGCTCAAATATAGACCATATTAGAAGTTAAGCAATGGGTTGAGTGGCCAACCACATTTTGGCCAGTCCTACAAGACTTTCTTTGACCTACCAAATGGGGTATAAATGCTTCTCGTATTCTCCCCGCCAGTAGGGACTCAAAATCTTAATAGCTCGGGGTAGTAAAAAGGATGCTAGGTTTGAATCTTGGCTTTAAGAAAACTGTGCTGAGGTGTTTTGTTTGTTTGAGACAGGGTTTCACTCTATCACCCAAGCTGGAGTGCAGTGGCGTGATCATAGCTCACTCCCAGGCTGAAGGGATCCTCCCACCACAGACTTCTGAGTAGCTGGGACGACCGGTGCATGCCACCATGCCCGGCTAATTTTTTGTACTTTTGGTACAGACAGTGTTTCGCCATGTTGTCGAGGCTGGTCTCAAACTCATGAGCTCAAAGAGATCCACCTGCCTCGACCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACTGCGCCCGGCCAGCTTTTTTTCTTTTATCAGAATTGATATTAAACTATATGCTGAGCTTCCATGTCCTTATCTTCCTTTTGGCATGGCTATGGCCATTTGAAATGTGTGGGATTTGCTAAAGTGCTCAACATACGTTGTTTCCTTTTTTAGATCTAAGTATGTAGAGGGCTCTGATTTGCAATATTTAGAAAGTTCTTCTAAGCTGGGAAGAAAAGTCAAGACTAAGAATCATTGCCAACAGGGCCGGGCGCGGTGGCTCACGCCTGTACTCCCAGCATTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCCTTCTCTAATAATAATACAAAAATTAGCCGGGCATGGTGGCGTGCGCCTGTAATCCCAGGTACTCAAGAGGCTGAGGCAGGAGACTCACTTGAACCCGGGAGGCGAAGGTTGCAGTGAGCCGACATCGTGCCACTGCACTCCATCATGGGCAACACAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAATCGCCAATAGGTAGGGAATAAGTTACCCCCTGCTAAATAAGTTACACTCACCTAGGCAAGGAAGGAACTCATAAACCACCTTCTAAACTGCTTGCCTTCCTCCCCGAAGTTCTGTAATTTAGAGGCGGTCACTACCACTGCTTGAACACCCCTTCCCAAGTCTGTACCACAAAAGGAGCTCTTGTGTAGCCCAGCCCCTCCTTCTCAGGACCCCAGGAGCCCAGACACACTAATGGGGACATTAGTTGCTTACTTTTCCAGCTACTGCTTAAGCTAGGCAGGCCATGAAGAAATAACGGTCTCAGTAACCTCCATGCTCGGGATACGACTCCCGGGAAGACGTGGGTGGGTGCGGGGAATGCGGACTGATCCCTCCCAGCGGCCGTTGGGGGCTGGCCCACAATCCCTCGCGAGGGCGGGAAAAGCAATGTGGTCGTTGCGGGGGGGGGGGGTCAGAAAAGGGGGACGGTCAGCGGGAAGAGCCAAGAGACTGCAACTCTACAAAGAGCACGCAGATTAATTCTAATGATTGTTCCCTGAGCTTTTCACACCAAAATAATGGTAACTGGCTAGTGTGTGCCCGTTACGCTCACTACTCCCACTCGAGATCATTCCTATTAATGACTCTGAGGCTTCACCTAACAGGCCACGGTGGAGGCAAGGAAATGTGGCGTGGAGAACCCACTGGGCCTGGCTCTCCGTCCTATGGTCTCCGTCCATCGTTTTACAGTCAGGGTGTACATTTGATGAGGAATCTCTAAATGGGATTTTGGGGAATCAAAACGGAATGGTGCATAAGTGTGAAAATTTACAAGACTGCGCAAAGCTGCAAGGCCCGGAGCCCCGTGCGGCCAGGCCGCAGAGCCGGCCCCTTCCGCTTTACGTCTGACGTCACGCCGCACGCCCCAGCGAGGGCGTGCGGAGTTTGGCTGCTCCGGGGTTAGCAGGTGAGCCTGCGATGCGCGGGAAGACGTTCCGCTTTGAAATGCAGCGGGATTTGGTGAGTTTCCCGCTGTCTCCAGCGGTGCGGGTGAAGCTGGTGTCTGCGGGGTTCCAGACTGCTGAGGAACTCCTAGAGGTGAAACCCTCCGAGCTTAGCAAAGGTAACGACTCCTGATGGCAAGCTGAGGCACACCGGCCGCCGTCAGCGCCGCCTCAGTCTTCGTTCTCTCGCCTCGGCCTTCAGCCCAGTCTCCGTTAGATTCTGCTTCCTCCCACGTCCATGTTTACAGCGTGAAAGAGCTCCTCGACTCCACTTACAAGTTGTCTGAATGGTTAGGAGAACTGTGGTCGTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCT | GATAGTATTTATGCATCCACTGAGCGCTCAAATATAGACCATATTAGAAGTTAAGCAATGGGTTGAGTGGCCAACCACATTTTGGCCAGTCCTACAAGACTTTCTTTGACCTACCAAATGGGGTATAAATGCTTCTCGTATTCTCCCCGCCAGTAGGGACTCAAAATCTTAATAGCTCGGGGTAGTAAAAAGGATGCTAGGTTTGAATCTTGGCTTTAAGAAAACTGTGCTGAGGTGTTTTGTTTGTTTGAGACAGGGTTTCACTCTATCACCCAAGCTGGAGTGCAGTGGCGTGATCATAGCTCACTCCCAGGCTGAAGGGATCCTCCCACCACAGACTTCTGAGTAGCTGGGACGACCGGTGCATGCCACCATGCCCGGCTAATTTTTTGTACTTTTGGTACAGACAGTGTTTCGCCATGTTGTCGAGGCTGGTCTCAAACTCATGAGCTCAAAGAGATCCACCTGCCTCGACCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACTGCGCCCGGCCAGCTTTTTTTCTTTTATCAGAATTGATATTAAACTATATGCTGAGCTTCCATGTCCTTATCTTCCTTTTGGCATGGCTATGGCCATTTGAAATGTGTGGGATTTGCTAAAGTGCTCAACATACGTTGTTTCCTTTTTTAGATCTAAGTATGTAGAGGGCTCTGATTTGCAATATTTAGAAAGTTCTTCTAAGCTGGGAAGAAAAGTCAAGACTAAGAATCATTGCCAACAGGGCCGGGCGCGGTGGCTCACGCCTGTACTCCCAGCATTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCCTTCTCTAATAATAATACAAAAATTAGCCGGGCATGGTGGCGTGCGCCTGTAATCCCAGGTACTCAAGAGGCTGAGGCAGGAGACTCACTTGAACCCGGGAGGCGAAGGTTGCAGTGAGCCGACATCGTGCCACTGCACTCCATCATGGGCAACACAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAATCGCCAATAGGTAGGGAATAAGTTACCCCCTGCTAAATAAGTTACACTCACCTAGGCAAGGAAGGAACTCATAAACCACCTTCTAAACTGCTTGCCTTCCTCCCCGAAGTTCTGTAATTTAGAGGCGGTCACTACCACTGCTTGAACACCCCTTCCCAAGTCTGTACCACAAAAGGAGCTCTTGTGTAGCCCAGCCCCTCCTTCTCAGGACCCCAGGAGCCCAGACACACTAATGGGGACATTAGTTGCTTACTTTTCCAGCTACTGCTTAAGCTAGGCAGGCCATGAAGAAATAACGGTCTCAGTAACCTCCATGCTCGGGATACGACTCCCGGGAAGACGTGGGTGGGTGCGGGGAATGCGGACTGATCCCTCCCAGCGGCCGTTGGGGGCTGGCCCACAATCCCTCGCGAGGGCGGGAAAAGCAATGTGGTCGTTGCGGGGGGGGGGGGTCAGAAAAGGGGGACGGTCAGCGGGAAGAGCCAAGAGACTGCAACTCTACAAAGAGCACGCAGATTAATTCTAATGATTGTTCCCTGAGCTTTTCACACCAAAATAATGGTAACTGGCTAGTGTGTGCCCGTTACGCTCACTACTCCCACTCGAGATCATTCCTATTAATGACTCTGAGGCTTCACCTAACAGGCCACGGTGGAGGCAAGGAAATGTGGCGTGGAGAACCCACTGGGCCTGGCTCTCCGTCCTATGGTCTCCGTCCATCGTTTTACAGTCAGGGTGTACATTTGATGAGGAATCTCTAAATGGGATTTTGGGGAATCAAAACGGAATGGTGCATAAGTGTGAAAATTTACAAGACTGCGCAAAGCTGCAAGGCCCGGAGCCCCGTGCGGCCAGGCCGCAGAGCCGGCCCCTTCCGCTTTACGTCTGACGTCACGCCGCACGCCCCAGCGAGGGCGTGCGGAGTTTGGCTGCTCCGGGGTTAGCAGGTGAGCCTGCGATGCGCGGGAAGACGTTCCGCTTTGAAATGCAGCGGGATTTGGTGGGTGAGTTTCCCGCTGTCTCCAGCGGTGCGGGTGAAGCTGGTGTCTGCGGGGTTCCAGACTGCTGAGGAACTCCTAGAGGTGAAACCCTCCGAGCTTAGCAAAGGTAACGACTCCTGATGGCAAGCTGAGGCACACCGGCCGCCGTCAGCGCCGCCTCAGTCTTCGTTCTCTCGCCTCGGCCTTCAGCCCAGTCTCCGTTAGATTCTGCTTCCTCCCACGTCCATGTTTACAGCGTGAAAGAGCTCCTCGACTCCACTTACAAGTTGTCTGAATGGTTAGGAGAACTGTGGTCGTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCA | pathogenic | 279,592 |
Variant at chromosome 17, position 58692690, gene RAD51C (RAD51 paralog C): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Fanconi_anemia_complementation_group_O', 'Hereditary_cancer-predisposing_syndrome'] | ATTTATGCATCCACTGAGCGCTCAAATATAGACCATATTAGAAGTTAAGCAATGGGTTGAGTGGCCAACCACATTTTGGCCAGTCCTACAAGACTTTCTTTGACCTACCAAATGGGGTATAAATGCTTCTCGTATTCTCCCCGCCAGTAGGGACTCAAAATCTTAATAGCTCGGGGTAGTAAAAAGGATGCTAGGTTTGAATCTTGGCTTTAAGAAAACTGTGCTGAGGTGTTTTGTTTGTTTGAGACAGGGTTTCACTCTATCACCCAAGCTGGAGTGCAGTGGCGTGATCATAGCTCACTCCCAGGCTGAAGGGATCCTCCCACCACAGACTTCTGAGTAGCTGGGACGACCGGTGCATGCCACCATGCCCGGCTAATTTTTTGTACTTTTGGTACAGACAGTGTTTCGCCATGTTGTCGAGGCTGGTCTCAAACTCATGAGCTCAAAGAGATCCACCTGCCTCGACCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACTGCGCCCGGCCAGCTTTTTTTCTTTTATCAGAATTGATATTAAACTATATGCTGAGCTTCCATGTCCTTATCTTCCTTTTGGCATGGCTATGGCCATTTGAAATGTGTGGGATTTGCTAAAGTGCTCAACATACGTTGTTTCCTTTTTTAGATCTAAGTATGTAGAGGGCTCTGATTTGCAATATTTAGAAAGTTCTTCTAAGCTGGGAAGAAAAGTCAAGACTAAGAATCATTGCCAACAGGGCCGGGCGCGGTGGCTCACGCCTGTACTCCCAGCATTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCCTTCTCTAATAATAATACAAAAATTAGCCGGGCATGGTGGCGTGCGCCTGTAATCCCAGGTACTCAAGAGGCTGAGGCAGGAGACTCACTTGAACCCGGGAGGCGAAGGTTGCAGTGAGCCGACATCGTGCCACTGCACTCCATCATGGGCAACACAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAATCGCCAATAGGTAGGGAATAAGTTACCCCCTGCTAAATAAGTTACACTCACCTAGGCAAGGAAGGAACTCATAAACCACCTTCTAAACTGCTTGCCTTCCTCCCCGAAGTTCTGTAATTTAGAGGCGGTCACTACCACTGCTTGAACACCCCTTCCCAAGTCTGTACCACAAAAGGAGCTCTTGTGTAGCCCAGCCCCTCCTTCTCAGGACCCCAGGAGCCCAGACACACTAATGGGGACATTAGTTGCTTACTTTTCCAGCTACTGCTTAAGCTAGGCAGGCCATGAAGAAATAACGGTCTCAGTAACCTCCATGCTCGGGATACGACTCCCGGGAAGACGTGGGTGGGTGCGGGGAATGCGGACTGATCCCTCCCAGCGGCCGTTGGGGGCTGGCCCACAATCCCTCGCGAGGGCGGGAAAAGCAATGTGGTCGTTGCGGGGGGGGGGGGTCAGAAAAGGGGGACGGTCAGCGGGAAGAGCCAAGAGACTGCAACTCTACAAAGAGCACGCAGATTAATTCTAATGATTGTTCCCTGAGCTTTTCACACCAAAATAATGGTAACTGGCTAGTGTGTGCCCGTTACGCTCACTACTCCCACTCGAGATCATTCCTATTAATGACTCTGAGGCTTCACCTAACAGGCCACGGTGGAGGCAAGGAAATGTGGCGTGGAGAACCCACTGGGCCTGGCTCTCCGTCCTATGGTCTCCGTCCATCGTTTTACAGTCAGGGTGTACATTTGATGAGGAATCTCTAAATGGGATTTTGGGGAATCAAAACGGAATGGTGCATAAGTGTGAAAATTTACAAGACTGCGCAAAGCTGCAAGGCCCGGAGCCCCGTGCGGCCAGGCCGCAGAGCCGGCCCCTTCCGCTTTACGTCTGACGTCACGCCGCACGCCCCAGCGAGGGCGTGCGGAGTTTGGCTGCTCCGGGGTTAGCAGGTGAGCCTGCGATGCGCGGGAAGACGTTCCGCTTTGAAATGCAGCGGGATTTGGTGAGTTTCCCGCTGTCTCCAGCGGTGCGGGTGAAGCTGGTGTCTGCGGGGTTCCAGACTGCTGAGGAACTCCTAGAGGTGAAACCCTCCGAGCTTAGCAAAGGTAACGACTCCTGATGGCAAGCTGAGGCACACCGGCCGCCGTCAGCGCCGCCTCAGTCTTCGTTCTCTCGCCTCGGCCTTCAGCCCAGTCTCCGTTAGATTCTGCTTCCTCCCACGTCCATGTTTACAGCGTGAAAGAGCTCCTCGACTCCACTTACAAGTTGTCTGAATGGTTAGGAGAACTGTGGTCGTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAA | ATTTATGCATCCACTGAGCGCTCAAATATAGACCATATTAGAAGTTAAGCAATGGGTTGAGTGGCCAACCACATTTTGGCCAGTCCTACAAGACTTTCTTTGACCTACCAAATGGGGTATAAATGCTTCTCGTATTCTCCCCGCCAGTAGGGACTCAAAATCTTAATAGCTCGGGGTAGTAAAAAGGATGCTAGGTTTGAATCTTGGCTTTAAGAAAACTGTGCTGAGGTGTTTTGTTTGTTTGAGACAGGGTTTCACTCTATCACCCAAGCTGGAGTGCAGTGGCGTGATCATAGCTCACTCCCAGGCTGAAGGGATCCTCCCACCACAGACTTCTGAGTAGCTGGGACGACCGGTGCATGCCACCATGCCCGGCTAATTTTTTGTACTTTTGGTACAGACAGTGTTTCGCCATGTTGTCGAGGCTGGTCTCAAACTCATGAGCTCAAAGAGATCCACCTGCCTCGACCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACTGCGCCCGGCCAGCTTTTTTTCTTTTATCAGAATTGATATTAAACTATATGCTGAGCTTCCATGTCCTTATCTTCCTTTTGGCATGGCTATGGCCATTTGAAATGTGTGGGATTTGCTAAAGTGCTCAACATACGTTGTTTCCTTTTTTAGATCTAAGTATGTAGAGGGCTCTGATTTGCAATATTTAGAAAGTTCTTCTAAGCTGGGAAGAAAAGTCAAGACTAAGAATCATTGCCAACAGGGCCGGGCGCGGTGGCTCACGCCTGTACTCCCAGCATTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCCTTCTCTAATAATAATACAAAAATTAGCCGGGCATGGTGGCGTGCGCCTGTAATCCCAGGTACTCAAGAGGCTGAGGCAGGAGACTCACTTGAACCCGGGAGGCGAAGGTTGCAGTGAGCCGACATCGTGCCACTGCACTCCATCATGGGCAACACAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAATCGCCAATAGGTAGGGAATAAGTTACCCCCTGCTAAATAAGTTACACTCACCTAGGCAAGGAAGGAACTCATAAACCACCTTCTAAACTGCTTGCCTTCCTCCCCGAAGTTCTGTAATTTAGAGGCGGTCACTACCACTGCTTGAACACCCCTTCCCAAGTCTGTACCACAAAAGGAGCTCTTGTGTAGCCCAGCCCCTCCTTCTCAGGACCCCAGGAGCCCAGACACACTAATGGGGACATTAGTTGCTTACTTTTCCAGCTACTGCTTAAGCTAGGCAGGCCATGAAGAAATAACGGTCTCAGTAACCTCCATGCTCGGGATACGACTCCCGGGAAGACGTGGGTGGGTGCGGGGAATGCGGACTGATCCCTCCCAGCGGCCGTTGGGGGCTGGCCCACAATCCCTCGCGAGGGCGGGAAAAGCAATGTGGTCGTTGCGGGGGGGGGGGGTCAGAAAAGGGGGACGGTCAGCGGGAAGAGCCAAGAGACTGCAACTCTACAAAGAGCACGCAGATTAATTCTAATGATTGTTCCCTGAGCTTTTCACACCAAAATAATGGTAACTGGCTAGTGTGTGCCCGTTACGCTCACTACTCCCACTCGAGATCATTCCTATTAATGACTCTGAGGCTTCACCTAACAGGCCACGGTGGAGGCAAGGAAATGTGGCGTGGAGAACCCACTGGGCCTGGCTCTCCGTCCTATGGTCTCCGTCCATCGTTTTACAGTCAGGGTGTACATTTGATGAGGAATCTCTAAATGGGATTTTGGGGAATCAAAACGGAATGGTGCATAAGTGTGAAAATTTACAAGACTGCGCAAAGCTGCAAGGCCCGGAGCCCCGTGCGGCCAGGCCGCAGAGCCGGCCCCTTCCGCTTTACGTCTGACGTCACGCCGCACGCCCCAGCGAGGGCGTGCGGAGTTTGGCTGCTCCGGGGTTAGCAGGTGAGCCTGCGATGCGCGGGAAGACGTTCCGCTTTGAAATGCAGCGGGATTTGGTGAGTTCCCGCTGTCTCCAGCGGTGCGGGTGAAGCTGGTGTCTGCGGGGTTCCAGACTGCTGAGGAACTCCTAGAGGTGAAACCCTCCGAGCTTAGCAAAGGTAACGACTCCTGATGGCAAGCTGAGGCACACCGGCCGCCGTCAGCGCCGCCTCAGTCTTCGTTCTCTCGCCTCGGCCTTCAGCCCAGTCTCCGTTAGATTCTGCTTCCTCCCACGTCCATGTTTACAGCGTGAAAGAGCTCCTCGACTCCACTTACAAGTTGTCTGAATGGTTAGGAGAACTGTGGTCGTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAN | pathogenic | 279,593 |
Clinically, how would you classify the variant at chromosome 17, position 58692693, gene RAD51C (RAD51 paralog C): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Fanconi_anemia_complementation_group_O', 'Hereditary_cancer-predisposing_syndrome'] | TATGCATCCACTGAGCGCTCAAATATAGACCATATTAGAAGTTAAGCAATGGGTTGAGTGGCCAACCACATTTTGGCCAGTCCTACAAGACTTTCTTTGACCTACCAAATGGGGTATAAATGCTTCTCGTATTCTCCCCGCCAGTAGGGACTCAAAATCTTAATAGCTCGGGGTAGTAAAAAGGATGCTAGGTTTGAATCTTGGCTTTAAGAAAACTGTGCTGAGGTGTTTTGTTTGTTTGAGACAGGGTTTCACTCTATCACCCAAGCTGGAGTGCAGTGGCGTGATCATAGCTCACTCCCAGGCTGAAGGGATCCTCCCACCACAGACTTCTGAGTAGCTGGGACGACCGGTGCATGCCACCATGCCCGGCTAATTTTTTGTACTTTTGGTACAGACAGTGTTTCGCCATGTTGTCGAGGCTGGTCTCAAACTCATGAGCTCAAAGAGATCCACCTGCCTCGACCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACTGCGCCCGGCCAGCTTTTTTTCTTTTATCAGAATTGATATTAAACTATATGCTGAGCTTCCATGTCCTTATCTTCCTTTTGGCATGGCTATGGCCATTTGAAATGTGTGGGATTTGCTAAAGTGCTCAACATACGTTGTTTCCTTTTTTAGATCTAAGTATGTAGAGGGCTCTGATTTGCAATATTTAGAAAGTTCTTCTAAGCTGGGAAGAAAAGTCAAGACTAAGAATCATTGCCAACAGGGCCGGGCGCGGTGGCTCACGCCTGTACTCCCAGCATTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCCTTCTCTAATAATAATACAAAAATTAGCCGGGCATGGTGGCGTGCGCCTGTAATCCCAGGTACTCAAGAGGCTGAGGCAGGAGACTCACTTGAACCCGGGAGGCGAAGGTTGCAGTGAGCCGACATCGTGCCACTGCACTCCATCATGGGCAACACAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAATCGCCAATAGGTAGGGAATAAGTTACCCCCTGCTAAATAAGTTACACTCACCTAGGCAAGGAAGGAACTCATAAACCACCTTCTAAACTGCTTGCCTTCCTCCCCGAAGTTCTGTAATTTAGAGGCGGTCACTACCACTGCTTGAACACCCCTTCCCAAGTCTGTACCACAAAAGGAGCTCTTGTGTAGCCCAGCCCCTCCTTCTCAGGACCCCAGGAGCCCAGACACACTAATGGGGACATTAGTTGCTTACTTTTCCAGCTACTGCTTAAGCTAGGCAGGCCATGAAGAAATAACGGTCTCAGTAACCTCCATGCTCGGGATACGACTCCCGGGAAGACGTGGGTGGGTGCGGGGAATGCGGACTGATCCCTCCCAGCGGCCGTTGGGGGCTGGCCCACAATCCCTCGCGAGGGCGGGAAAAGCAATGTGGTCGTTGCGGGGGGGGGGGGTCAGAAAAGGGGGACGGTCAGCGGGAAGAGCCAAGAGACTGCAACTCTACAAAGAGCACGCAGATTAATTCTAATGATTGTTCCCTGAGCTTTTCACACCAAAATAATGGTAACTGGCTAGTGTGTGCCCGTTACGCTCACTACTCCCACTCGAGATCATTCCTATTAATGACTCTGAGGCTTCACCTAACAGGCCACGGTGGAGGCAAGGAAATGTGGCGTGGAGAACCCACTGGGCCTGGCTCTCCGTCCTATGGTCTCCGTCCATCGTTTTACAGTCAGGGTGTACATTTGATGAGGAATCTCTAAATGGGATTTTGGGGAATCAAAACGGAATGGTGCATAAGTGTGAAAATTTACAAGACTGCGCAAAGCTGCAAGGCCCGGAGCCCCGTGCGGCCAGGCCGCAGAGCCGGCCCCTTCCGCTTTACGTCTGACGTCACGCCGCACGCCCCAGCGAGGGCGTGCGGAGTTTGGCTGCTCCGGGGTTAGCAGGTGAGCCTGCGATGCGCGGGAAGACGTTCCGCTTTGAAATGCAGCGGGATTTGGTGAGTTTCCCGCTGTCTCCAGCGGTGCGGGTGAAGCTGGTGTCTGCGGGGTTCCAGACTGCTGAGGAACTCCTAGAGGTGAAACCCTCCGAGCTTAGCAAAGGTAACGACTCCTGATGGCAAGCTGAGGCACACCGGCCGCCGTCAGCGCCGCCTCAGTCTTCGTTCTCTCGCCTCGGCCTTCAGCCCAGTCTCCGTTAGATTCTGCTTCCTCCCACGTCCATGTTTACAGCGTGAAAGAGCTCCTCGACTCCACTTACAAGTTGTCTGAATGGTTAGGAGAACTGTGGTCGTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTA | TATGCATCCACTGAGCGCTCAAATATAGACCATATTAGAAGTTAAGCAATGGGTTGAGTGGCCAACCACATTTTGGCCAGTCCTACAAGACTTTCTTTGACCTACCAAATGGGGTATAAATGCTTCTCGTATTCTCCCCGCCAGTAGGGACTCAAAATCTTAATAGCTCGGGGTAGTAAAAAGGATGCTAGGTTTGAATCTTGGCTTTAAGAAAACTGTGCTGAGGTGTTTTGTTTGTTTGAGACAGGGTTTCACTCTATCACCCAAGCTGGAGTGCAGTGGCGTGATCATAGCTCACTCCCAGGCTGAAGGGATCCTCCCACCACAGACTTCTGAGTAGCTGGGACGACCGGTGCATGCCACCATGCCCGGCTAATTTTTTGTACTTTTGGTACAGACAGTGTTTCGCCATGTTGTCGAGGCTGGTCTCAAACTCATGAGCTCAAAGAGATCCACCTGCCTCGACCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACTGCGCCCGGCCAGCTTTTTTTCTTTTATCAGAATTGATATTAAACTATATGCTGAGCTTCCATGTCCTTATCTTCCTTTTGGCATGGCTATGGCCATTTGAAATGTGTGGGATTTGCTAAAGTGCTCAACATACGTTGTTTCCTTTTTTAGATCTAAGTATGTAGAGGGCTCTGATTTGCAATATTTAGAAAGTTCTTCTAAGCTGGGAAGAAAAGTCAAGACTAAGAATCATTGCCAACAGGGCCGGGCGCGGTGGCTCACGCCTGTACTCCCAGCATTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCCTTCTCTAATAATAATACAAAAATTAGCCGGGCATGGTGGCGTGCGCCTGTAATCCCAGGTACTCAAGAGGCTGAGGCAGGAGACTCACTTGAACCCGGGAGGCGAAGGTTGCAGTGAGCCGACATCGTGCCACTGCACTCCATCATGGGCAACACAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAATCGCCAATAGGTAGGGAATAAGTTACCCCCTGCTAAATAAGTTACACTCACCTAGGCAAGGAAGGAACTCATAAACCACCTTCTAAACTGCTTGCCTTCCTCCCCGAAGTTCTGTAATTTAGAGGCGGTCACTACCACTGCTTGAACACCCCTTCCCAAGTCTGTACCACAAAAGGAGCTCTTGTGTAGCCCAGCCCCTCCTTCTCAGGACCCCAGGAGCCCAGACACACTAATGGGGACATTAGTTGCTTACTTTTCCAGCTACTGCTTAAGCTAGGCAGGCCATGAAGAAATAACGGTCTCAGTAACCTCCATGCTCGGGATACGACTCCCGGGAAGACGTGGGTGGGTGCGGGGAATGCGGACTGATCCCTCCCAGCGGCCGTTGGGGGCTGGCCCACAATCCCTCGCGAGGGCGGGAAAAGCAATGTGGTCGTTGCGGGGGGGGGGGGTCAGAAAAGGGGGACGGTCAGCGGGAAGAGCCAAGAGACTGCAACTCTACAAAGAGCACGCAGATTAATTCTAATGATTGTTCCCTGAGCTTTTCACACCAAAATAATGGTAACTGGCTAGTGTGTGCCCGTTACGCTCACTACTCCCACTCGAGATCATTCCTATTAATGACTCTGAGGCTTCACCTAACAGGCCACGGTGGAGGCAAGGAAATGTGGCGTGGAGAACCCACTGGGCCTGGCTCTCCGTCCTATGGTCTCCGTCCATCGTTTTACAGTCAGGGTGTACATTTGATGAGGAATCTCTAAATGGGATTTTGGGGAATCAAAACGGAATGGTGCATAAGTGTGAAAATTTACAAGACTGCGCAAAGCTGCAAGGCCCGGAGCCCCGTGCGGCCAGGCCGCAGAGCCGGCCCCTTCCGCTTTACGTCTGACGTCACGCCGCACGCCCCAGCGAGGGCGTGCGGAGTTTGGCTGCTCCGGGGTTAGCAGGTGAGCCTGCGATGCGCGGGAAGACGTTCCGCTTTGAAATGCAGCGGGATTTGGTGAGTTTCGCTGTCTCCAGCGGTGCGGGTGAAGCTGGTGTCTGCGGGGTTCCAGACTGCTGAGGAACTCCTAGAGGTGAAACCCTCCGAGCTTAGCAAAGGTAACGACTCCTGATGGCAAGCTGAGGCACACCGGCCGCCGTCAGCGCCGCCTCAGTCTTCGTTCTCTCGCCTCGGCCTTCAGCCCAGTCTCCGTTAGATTCTGCTTCCTCCCACGTCCATGTTTACAGCGTGAAAGAGCTCCTCGACTCCACTTACAAGTTGTCTGAATGGTTAGGAGAACTGTGGTCGTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTANN | pathogenic | 279,594 |
Regarding the variant at chromosome 17 and position 58692706, affecting gene RAD51C (RAD51 paralog C): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Fanconi_anemia_complementation_group_O', 'Ovarian_neoplasm'] | AGCGCTCAAATATAGACCATATTAGAAGTTAAGCAATGGGTTGAGTGGCCAACCACATTTTGGCCAGTCCTACAAGACTTTCTTTGACCTACCAAATGGGGTATAAATGCTTCTCGTATTCTCCCCGCCAGTAGGGACTCAAAATCTTAATAGCTCGGGGTAGTAAAAAGGATGCTAGGTTTGAATCTTGGCTTTAAGAAAACTGTGCTGAGGTGTTTTGTTTGTTTGAGACAGGGTTTCACTCTATCACCCAAGCTGGAGTGCAGTGGCGTGATCATAGCTCACTCCCAGGCTGAAGGGATCCTCCCACCACAGACTTCTGAGTAGCTGGGACGACCGGTGCATGCCACCATGCCCGGCTAATTTTTTGTACTTTTGGTACAGACAGTGTTTCGCCATGTTGTCGAGGCTGGTCTCAAACTCATGAGCTCAAAGAGATCCACCTGCCTCGACCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACTGCGCCCGGCCAGCTTTTTTTCTTTTATCAGAATTGATATTAAACTATATGCTGAGCTTCCATGTCCTTATCTTCCTTTTGGCATGGCTATGGCCATTTGAAATGTGTGGGATTTGCTAAAGTGCTCAACATACGTTGTTTCCTTTTTTAGATCTAAGTATGTAGAGGGCTCTGATTTGCAATATTTAGAAAGTTCTTCTAAGCTGGGAAGAAAAGTCAAGACTAAGAATCATTGCCAACAGGGCCGGGCGCGGTGGCTCACGCCTGTACTCCCAGCATTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCCTTCTCTAATAATAATACAAAAATTAGCCGGGCATGGTGGCGTGCGCCTGTAATCCCAGGTACTCAAGAGGCTGAGGCAGGAGACTCACTTGAACCCGGGAGGCGAAGGTTGCAGTGAGCCGACATCGTGCCACTGCACTCCATCATGGGCAACACAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAATCGCCAATAGGTAGGGAATAAGTTACCCCCTGCTAAATAAGTTACACTCACCTAGGCAAGGAAGGAACTCATAAACCACCTTCTAAACTGCTTGCCTTCCTCCCCGAAGTTCTGTAATTTAGAGGCGGTCACTACCACTGCTTGAACACCCCTTCCCAAGTCTGTACCACAAAAGGAGCTCTTGTGTAGCCCAGCCCCTCCTTCTCAGGACCCCAGGAGCCCAGACACACTAATGGGGACATTAGTTGCTTACTTTTCCAGCTACTGCTTAAGCTAGGCAGGCCATGAAGAAATAACGGTCTCAGTAACCTCCATGCTCGGGATACGACTCCCGGGAAGACGTGGGTGGGTGCGGGGAATGCGGACTGATCCCTCCCAGCGGCCGTTGGGGGCTGGCCCACAATCCCTCGCGAGGGCGGGAAAAGCAATGTGGTCGTTGCGGGGGGGGGGGGTCAGAAAAGGGGGACGGTCAGCGGGAAGAGCCAAGAGACTGCAACTCTACAAAGAGCACGCAGATTAATTCTAATGATTGTTCCCTGAGCTTTTCACACCAAAATAATGGTAACTGGCTAGTGTGTGCCCGTTACGCTCACTACTCCCACTCGAGATCATTCCTATTAATGACTCTGAGGCTTCACCTAACAGGCCACGGTGGAGGCAAGGAAATGTGGCGTGGAGAACCCACTGGGCCTGGCTCTCCGTCCTATGGTCTCCGTCCATCGTTTTACAGTCAGGGTGTACATTTGATGAGGAATCTCTAAATGGGATTTTGGGGAATCAAAACGGAATGGTGCATAAGTGTGAAAATTTACAAGACTGCGCAAAGCTGCAAGGCCCGGAGCCCCGTGCGGCCAGGCCGCAGAGCCGGCCCCTTCCGCTTTACGTCTGACGTCACGCCGCACGCCCCAGCGAGGGCGTGCGGAGTTTGGCTGCTCCGGGGTTAGCAGGTGAGCCTGCGATGCGCGGGAAGACGTTCCGCTTTGAAATGCAGCGGGATTTGGTGAGTTTCCCGCTGTCTCCAGCGGTGCGGGTGAAGCTGGTGTCTGCGGGGTTCCAGACTGCTGAGGAACTCCTAGAGGTGAAACCCTCCGAGCTTAGCAAAGGTAACGACTCCTGATGGCAAGCTGAGGCACACCGGCCGCCGTCAGCGCCGCCTCAGTCTTCGTTCTCTCGCCTCGGCCTTCAGCCCAGTCTCCGTTAGATTCTGCTTCCTCCCACGTCCATGTTTACAGCGTGAAAGAGCTCCTCGACTCCACTTACAAGTTGTCTGAATGGTTAGGAGAACTGTGGTCGTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGG | AGCGCTCAAATATAGACCATATTAGAAGTTAAGCAATGGGTTGAGTGGCCAACCACATTTTGGCCAGTCCTACAAGACTTTCTTTGACCTACCAAATGGGGTATAAATGCTTCTCGTATTCTCCCCGCCAGTAGGGACTCAAAATCTTAATAGCTCGGGGTAGTAAAAAGGATGCTAGGTTTGAATCTTGGCTTTAAGAAAACTGTGCTGAGGTGTTTTGTTTGTTTGAGACAGGGTTTCACTCTATCACCCAAGCTGGAGTGCAGTGGCGTGATCATAGCTCACTCCCAGGCTGAAGGGATCCTCCCACCACAGACTTCTGAGTAGCTGGGACGACCGGTGCATGCCACCATGCCCGGCTAATTTTTTGTACTTTTGGTACAGACAGTGTTTCGCCATGTTGTCGAGGCTGGTCTCAAACTCATGAGCTCAAAGAGATCCACCTGCCTCGACCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACTGCGCCCGGCCAGCTTTTTTTCTTTTATCAGAATTGATATTAAACTATATGCTGAGCTTCCATGTCCTTATCTTCCTTTTGGCATGGCTATGGCCATTTGAAATGTGTGGGATTTGCTAAAGTGCTCAACATACGTTGTTTCCTTTTTTAGATCTAAGTATGTAGAGGGCTCTGATTTGCAATATTTAGAAAGTTCTTCTAAGCTGGGAAGAAAAGTCAAGACTAAGAATCATTGCCAACAGGGCCGGGCGCGGTGGCTCACGCCTGTACTCCCAGCATTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCCTTCTCTAATAATAATACAAAAATTAGCCGGGCATGGTGGCGTGCGCCTGTAATCCCAGGTACTCAAGAGGCTGAGGCAGGAGACTCACTTGAACCCGGGAGGCGAAGGTTGCAGTGAGCCGACATCGTGCCACTGCACTCCATCATGGGCAACACAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAATCGCCAATAGGTAGGGAATAAGTTACCCCCTGCTAAATAAGTTACACTCACCTAGGCAAGGAAGGAACTCATAAACCACCTTCTAAACTGCTTGCCTTCCTCCCCGAAGTTCTGTAATTTAGAGGCGGTCACTACCACTGCTTGAACACCCCTTCCCAAGTCTGTACCACAAAAGGAGCTCTTGTGTAGCCCAGCCCCTCCTTCTCAGGACCCCAGGAGCCCAGACACACTAATGGGGACATTAGTTGCTTACTTTTCCAGCTACTGCTTAAGCTAGGCAGGCCATGAAGAAATAACGGTCTCAGTAACCTCCATGCTCGGGATACGACTCCCGGGAAGACGTGGGTGGGTGCGGGGAATGCGGACTGATCCCTCCCAGCGGCCGTTGGGGGCTGGCCCACAATCCCTCGCGAGGGCGGGAAAAGCAATGTGGTCGTTGCGGGGGGGGGGGGTCAGAAAAGGGGGACGGTCAGCGGGAAGAGCCAAGAGACTGCAACTCTACAAAGAGCACGCAGATTAATTCTAATGATTGTTCCCTGAGCTTTTCACACCAAAATAATGGTAACTGGCTAGTGTGTGCCCGTTACGCTCACTACTCCCACTCGAGATCATTCCTATTAATGACTCTGAGGCTTCACCTAACAGGCCACGGTGGAGGCAAGGAAATGTGGCGTGGAGAACCCACTGGGCCTGGCTCTCCGTCCTATGGTCTCCGTCCATCGTTTTACAGTCAGGGTGTACATTTGATGAGGAATCTCTAAATGGGATTTTGGGGAATCAAAACGGAATGGTGCATAAGTGTGAAAATTTACAAGACTGCGCAAAGCTGCAAGGCCCGGAGCCCCGTGCGGCCAGGCCGCAGAGCCGGCCCCTTCCGCTTTACGTCTGACGTCACGCCGCACGCCCCAGCGAGGGCGTGCGGAGTTTGGCTGCTCCGGGGTTAGCAGGTGAGCCTGCGATGCGCGGGAAGACGTTCCGCTTTGAAATGCAGCGGGATTTGGTGAGTTTCCCGCTGTCTCCAGCGGTGCGGTGCGGGTGAAGCTGGTGTCTGCGGGGTTCCAGACTGCTGAGGAACTCCTAGAGGTGAAACCCTCCGAGCTTAGCAAAGGTAACGACTCCTGATGGCAAGCTGAGGCACACCGGCCGCCGTCAGCGCCGCCTCAGTCTTCGTTCTCTCGCCTCGGCCTTCAGCCCAGTCTCCGTTAGATTCTGCTTCCTCCCACGTCCATGTTTACAGCGTGAAAGAGCTCCTCGACTCCACTTACAAGTTGTCTGAATGGTTAGGAGAACTGTGGTCGTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATT | pathogenic | 279,598 |
A genetic variant on chromosome 17, position 58692716, affects the gene RAD51C (RAD51 paralog C). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Fanconi_anemia_complementation_group_O'] | TATAGACCATATTAGAAGTTAAGCAATGGGTTGAGTGGCCAACCACATTTTGGCCAGTCCTACAAGACTTTCTTTGACCTACCAAATGGGGTATAAATGCTTCTCGTATTCTCCCCGCCAGTAGGGACTCAAAATCTTAATAGCTCGGGGTAGTAAAAAGGATGCTAGGTTTGAATCTTGGCTTTAAGAAAACTGTGCTGAGGTGTTTTGTTTGTTTGAGACAGGGTTTCACTCTATCACCCAAGCTGGAGTGCAGTGGCGTGATCATAGCTCACTCCCAGGCTGAAGGGATCCTCCCACCACAGACTTCTGAGTAGCTGGGACGACCGGTGCATGCCACCATGCCCGGCTAATTTTTTGTACTTTTGGTACAGACAGTGTTTCGCCATGTTGTCGAGGCTGGTCTCAAACTCATGAGCTCAAAGAGATCCACCTGCCTCGACCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACTGCGCCCGGCCAGCTTTTTTTCTTTTATCAGAATTGATATTAAACTATATGCTGAGCTTCCATGTCCTTATCTTCCTTTTGGCATGGCTATGGCCATTTGAAATGTGTGGGATTTGCTAAAGTGCTCAACATACGTTGTTTCCTTTTTTAGATCTAAGTATGTAGAGGGCTCTGATTTGCAATATTTAGAAAGTTCTTCTAAGCTGGGAAGAAAAGTCAAGACTAAGAATCATTGCCAACAGGGCCGGGCGCGGTGGCTCACGCCTGTACTCCCAGCATTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCCTTCTCTAATAATAATACAAAAATTAGCCGGGCATGGTGGCGTGCGCCTGTAATCCCAGGTACTCAAGAGGCTGAGGCAGGAGACTCACTTGAACCCGGGAGGCGAAGGTTGCAGTGAGCCGACATCGTGCCACTGCACTCCATCATGGGCAACACAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAATCGCCAATAGGTAGGGAATAAGTTACCCCCTGCTAAATAAGTTACACTCACCTAGGCAAGGAAGGAACTCATAAACCACCTTCTAAACTGCTTGCCTTCCTCCCCGAAGTTCTGTAATTTAGAGGCGGTCACTACCACTGCTTGAACACCCCTTCCCAAGTCTGTACCACAAAAGGAGCTCTTGTGTAGCCCAGCCCCTCCTTCTCAGGACCCCAGGAGCCCAGACACACTAATGGGGACATTAGTTGCTTACTTTTCCAGCTACTGCTTAAGCTAGGCAGGCCATGAAGAAATAACGGTCTCAGTAACCTCCATGCTCGGGATACGACTCCCGGGAAGACGTGGGTGGGTGCGGGGAATGCGGACTGATCCCTCCCAGCGGCCGTTGGGGGCTGGCCCACAATCCCTCGCGAGGGCGGGAAAAGCAATGTGGTCGTTGCGGGGGGGGGGGGTCAGAAAAGGGGGACGGTCAGCGGGAAGAGCCAAGAGACTGCAACTCTACAAAGAGCACGCAGATTAATTCTAATGATTGTTCCCTGAGCTTTTCACACCAAAATAATGGTAACTGGCTAGTGTGTGCCCGTTACGCTCACTACTCCCACTCGAGATCATTCCTATTAATGACTCTGAGGCTTCACCTAACAGGCCACGGTGGAGGCAAGGAAATGTGGCGTGGAGAACCCACTGGGCCTGGCTCTCCGTCCTATGGTCTCCGTCCATCGTTTTACAGTCAGGGTGTACATTTGATGAGGAATCTCTAAATGGGATTTTGGGGAATCAAAACGGAATGGTGCATAAGTGTGAAAATTTACAAGACTGCGCAAAGCTGCAAGGCCCGGAGCCCCGTGCGGCCAGGCCGCAGAGCCGGCCCCTTCCGCTTTACGTCTGACGTCACGCCGCACGCCCCAGCGAGGGCGTGCGGAGTTTGGCTGCTCCGGGGTTAGCAGGTGAGCCTGCGATGCGCGGGAAGACGTTCCGCTTTGAAATGCAGCGGGATTTGGTGAGTTTCCCGCTGTCTCCAGCGGTGCGGGTGAAGCTGGTGTCTGCGGGGTTCCAGACTGCTGAGGAACTCCTAGAGGTGAAACCCTCCGAGCTTAGCAAAGGTAACGACTCCTGATGGCAAGCTGAGGCACACCGGCCGCCGTCAGCGCCGCCTCAGTCTTCGTTCTCTCGCCTCGGCCTTCAGCCCAGTCTCCGTTAGATTCTGCTTCCTCCCACGTCCATGTTTACAGCGTGAAAGAGCTCCTCGACTCCACTTACAAGTTGTCTGAATGGTTAGGAGAACTGTGGTCGTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCAC | TATAGACCATATTAGAAGTTAAGCAATGGGTTGAGTGGCCAACCACATTTTGGCCAGTCCTACAAGACTTTCTTTGACCTACCAAATGGGGTATAAATGCTTCTCGTATTCTCCCCGCCAGTAGGGACTCAAAATCTTAATAGCTCGGGGTAGTAAAAAGGATGCTAGGTTTGAATCTTGGCTTTAAGAAAACTGTGCTGAGGTGTTTTGTTTGTTTGAGACAGGGTTTCACTCTATCACCCAAGCTGGAGTGCAGTGGCGTGATCATAGCTCACTCCCAGGCTGAAGGGATCCTCCCACCACAGACTTCTGAGTAGCTGGGACGACCGGTGCATGCCACCATGCCCGGCTAATTTTTTGTACTTTTGGTACAGACAGTGTTTCGCCATGTTGTCGAGGCTGGTCTCAAACTCATGAGCTCAAAGAGATCCACCTGCCTCGACCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACTGCGCCCGGCCAGCTTTTTTTCTTTTATCAGAATTGATATTAAACTATATGCTGAGCTTCCATGTCCTTATCTTCCTTTTGGCATGGCTATGGCCATTTGAAATGTGTGGGATTTGCTAAAGTGCTCAACATACGTTGTTTCCTTTTTTAGATCTAAGTATGTAGAGGGCTCTGATTTGCAATATTTAGAAAGTTCTTCTAAGCTGGGAAGAAAAGTCAAGACTAAGAATCATTGCCAACAGGGCCGGGCGCGGTGGCTCACGCCTGTACTCCCAGCATTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCCTTCTCTAATAATAATACAAAAATTAGCCGGGCATGGTGGCGTGCGCCTGTAATCCCAGGTACTCAAGAGGCTGAGGCAGGAGACTCACTTGAACCCGGGAGGCGAAGGTTGCAGTGAGCCGACATCGTGCCACTGCACTCCATCATGGGCAACACAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAATCGCCAATAGGTAGGGAATAAGTTACCCCCTGCTAAATAAGTTACACTCACCTAGGCAAGGAAGGAACTCATAAACCACCTTCTAAACTGCTTGCCTTCCTCCCCGAAGTTCTGTAATTTAGAGGCGGTCACTACCACTGCTTGAACACCCCTTCCCAAGTCTGTACCACAAAAGGAGCTCTTGTGTAGCCCAGCCCCTCCTTCTCAGGACCCCAGGAGCCCAGACACACTAATGGGGACATTAGTTGCTTACTTTTCCAGCTACTGCTTAAGCTAGGCAGGCCATGAAGAAATAACGGTCTCAGTAACCTCCATGCTCGGGATACGACTCCCGGGAAGACGTGGGTGGGTGCGGGGAATGCGGACTGATCCCTCCCAGCGGCCGTTGGGGGCTGGCCCACAATCCCTCGCGAGGGCGGGAAAAGCAATGTGGTCGTTGCGGGGGGGGGGGGTCAGAAAAGGGGGACGGTCAGCGGGAAGAGCCAAGAGACTGCAACTCTACAAAGAGCACGCAGATTAATTCTAATGATTGTTCCCTGAGCTTTTCACACCAAAATAATGGTAACTGGCTAGTGTGTGCCCGTTACGCTCACTACTCCCACTCGAGATCATTCCTATTAATGACTCTGAGGCTTCACCTAACAGGCCACGGTGGAGGCAAGGAAATGTGGCGTGGAGAACCCACTGGGCCTGGCTCTCCGTCCTATGGTCTCCGTCCATCGTTTTACAGTCAGGGTGTACATTTGATGAGGAATCTCTAAATGGGATTTTGGGGAATCAAAACGGAATGGTGCATAAGTGTGAAAATTTACAAGACTGCGCAAAGCTGCAAGGCCCGGAGCCCCGTGCGGCCAGGCCGCAGAGCCGGCCCCTTCCGCTTTACGTCTGACGTCACGCCGCACGCCCCAGCGAGGGCGTGCGGAGTTTGGCTGCTCCGGGGTTAGCAGGTGAGCCTGCGATGCGCGGGAAGACGTTCCGCTTTGAAATGCAGCGGGATTTGGTGAGTTTCCCGCTGTCTCCAGCGGTGCGGTTCTGAAGCTGGTGTCTGCGGGGTTCCAGACTGCTGAGGAACTCCTAGAGGTGAAACCCTCCGAGCTTAGCAAAGGTAACGACTCCTGATGGCAAGCTGAGGCACACCGGCCGCCGTCAGCGCCGCCTCAGTCTTCGTTCTCTCGCCTCGGCCTTCAGCCCAGTCTCCGTTAGATTCTGCTTCCTCCCACGTCCATGTTTACAGCGTGAAAGAGCTCCTCGACTCCACTTACAAGTTGTCTGAATGGTTAGGAGAACTGTGGTCGTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCC | pathogenic | 279,604 |
Considering the genetic mutation at chromosome 17, position 58692723, impacting RAD51C (RAD51 paralog C): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Fanconi_anemia_complementation_group_O'] | CATATTAGAAGTTAAGCAATGGGTTGAGTGGCCAACCACATTTTGGCCAGTCCTACAAGACTTTCTTTGACCTACCAAATGGGGTATAAATGCTTCTCGTATTCTCCCCGCCAGTAGGGACTCAAAATCTTAATAGCTCGGGGTAGTAAAAAGGATGCTAGGTTTGAATCTTGGCTTTAAGAAAACTGTGCTGAGGTGTTTTGTTTGTTTGAGACAGGGTTTCACTCTATCACCCAAGCTGGAGTGCAGTGGCGTGATCATAGCTCACTCCCAGGCTGAAGGGATCCTCCCACCACAGACTTCTGAGTAGCTGGGACGACCGGTGCATGCCACCATGCCCGGCTAATTTTTTGTACTTTTGGTACAGACAGTGTTTCGCCATGTTGTCGAGGCTGGTCTCAAACTCATGAGCTCAAAGAGATCCACCTGCCTCGACCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACTGCGCCCGGCCAGCTTTTTTTCTTTTATCAGAATTGATATTAAACTATATGCTGAGCTTCCATGTCCTTATCTTCCTTTTGGCATGGCTATGGCCATTTGAAATGTGTGGGATTTGCTAAAGTGCTCAACATACGTTGTTTCCTTTTTTAGATCTAAGTATGTAGAGGGCTCTGATTTGCAATATTTAGAAAGTTCTTCTAAGCTGGGAAGAAAAGTCAAGACTAAGAATCATTGCCAACAGGGCCGGGCGCGGTGGCTCACGCCTGTACTCCCAGCATTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCCTTCTCTAATAATAATACAAAAATTAGCCGGGCATGGTGGCGTGCGCCTGTAATCCCAGGTACTCAAGAGGCTGAGGCAGGAGACTCACTTGAACCCGGGAGGCGAAGGTTGCAGTGAGCCGACATCGTGCCACTGCACTCCATCATGGGCAACACAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAATCGCCAATAGGTAGGGAATAAGTTACCCCCTGCTAAATAAGTTACACTCACCTAGGCAAGGAAGGAACTCATAAACCACCTTCTAAACTGCTTGCCTTCCTCCCCGAAGTTCTGTAATTTAGAGGCGGTCACTACCACTGCTTGAACACCCCTTCCCAAGTCTGTACCACAAAAGGAGCTCTTGTGTAGCCCAGCCCCTCCTTCTCAGGACCCCAGGAGCCCAGACACACTAATGGGGACATTAGTTGCTTACTTTTCCAGCTACTGCTTAAGCTAGGCAGGCCATGAAGAAATAACGGTCTCAGTAACCTCCATGCTCGGGATACGACTCCCGGGAAGACGTGGGTGGGTGCGGGGAATGCGGACTGATCCCTCCCAGCGGCCGTTGGGGGCTGGCCCACAATCCCTCGCGAGGGCGGGAAAAGCAATGTGGTCGTTGCGGGGGGGGGGGGTCAGAAAAGGGGGACGGTCAGCGGGAAGAGCCAAGAGACTGCAACTCTACAAAGAGCACGCAGATTAATTCTAATGATTGTTCCCTGAGCTTTTCACACCAAAATAATGGTAACTGGCTAGTGTGTGCCCGTTACGCTCACTACTCCCACTCGAGATCATTCCTATTAATGACTCTGAGGCTTCACCTAACAGGCCACGGTGGAGGCAAGGAAATGTGGCGTGGAGAACCCACTGGGCCTGGCTCTCCGTCCTATGGTCTCCGTCCATCGTTTTACAGTCAGGGTGTACATTTGATGAGGAATCTCTAAATGGGATTTTGGGGAATCAAAACGGAATGGTGCATAAGTGTGAAAATTTACAAGACTGCGCAAAGCTGCAAGGCCCGGAGCCCCGTGCGGCCAGGCCGCAGAGCCGGCCCCTTCCGCTTTACGTCTGACGTCACGCCGCACGCCCCAGCGAGGGCGTGCGGAGTTTGGCTGCTCCGGGGTTAGCAGGTGAGCCTGCGATGCGCGGGAAGACGTTCCGCTTTGAAATGCAGCGGGATTTGGTGAGTTTCCCGCTGTCTCCAGCGGTGCGGGTGAAGCTGGTGTCTGCGGGGTTCCAGACTGCTGAGGAACTCCTAGAGGTGAAACCCTCCGAGCTTAGCAAAGGTAACGACTCCTGATGGCAAGCTGAGGCACACCGGCCGCCGTCAGCGCCGCCTCAGTCTTCGTTCTCTCGCCTCGGCCTTCAGCCCAGTCTCCGTTAGATTCTGCTTCCTCCCACGTCCATGTTTACAGCGTGAAAGAGCTCCTCGACTCCACTTACAAGTTGTCTGAATGGTTAGGAGAACTGTGGTCGTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCC | CATATTAGAAGTTAAGCAATGGGTTGAGTGGCCAACCACATTTTGGCCAGTCCTACAAGACTTTCTTTGACCTACCAAATGGGGTATAAATGCTTCTCGTATTCTCCCCGCCAGTAGGGACTCAAAATCTTAATAGCTCGGGGTAGTAAAAAGGATGCTAGGTTTGAATCTTGGCTTTAAGAAAACTGTGCTGAGGTGTTTTGTTTGTTTGAGACAGGGTTTCACTCTATCACCCAAGCTGGAGTGCAGTGGCGTGATCATAGCTCACTCCCAGGCTGAAGGGATCCTCCCACCACAGACTTCTGAGTAGCTGGGACGACCGGTGCATGCCACCATGCCCGGCTAATTTTTTGTACTTTTGGTACAGACAGTGTTTCGCCATGTTGTCGAGGCTGGTCTCAAACTCATGAGCTCAAAGAGATCCACCTGCCTCGACCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACTGCGCCCGGCCAGCTTTTTTTCTTTTATCAGAATTGATATTAAACTATATGCTGAGCTTCCATGTCCTTATCTTCCTTTTGGCATGGCTATGGCCATTTGAAATGTGTGGGATTTGCTAAAGTGCTCAACATACGTTGTTTCCTTTTTTAGATCTAAGTATGTAGAGGGCTCTGATTTGCAATATTTAGAAAGTTCTTCTAAGCTGGGAAGAAAAGTCAAGACTAAGAATCATTGCCAACAGGGCCGGGCGCGGTGGCTCACGCCTGTACTCCCAGCATTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCCTTCTCTAATAATAATACAAAAATTAGCCGGGCATGGTGGCGTGCGCCTGTAATCCCAGGTACTCAAGAGGCTGAGGCAGGAGACTCACTTGAACCCGGGAGGCGAAGGTTGCAGTGAGCCGACATCGTGCCACTGCACTCCATCATGGGCAACACAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAATCGCCAATAGGTAGGGAATAAGTTACCCCCTGCTAAATAAGTTACACTCACCTAGGCAAGGAAGGAACTCATAAACCACCTTCTAAACTGCTTGCCTTCCTCCCCGAAGTTCTGTAATTTAGAGGCGGTCACTACCACTGCTTGAACACCCCTTCCCAAGTCTGTACCACAAAAGGAGCTCTTGTGTAGCCCAGCCCCTCCTTCTCAGGACCCCAGGAGCCCAGACACACTAATGGGGACATTAGTTGCTTACTTTTCCAGCTACTGCTTAAGCTAGGCAGGCCATGAAGAAATAACGGTCTCAGTAACCTCCATGCTCGGGATACGACTCCCGGGAAGACGTGGGTGGGTGCGGGGAATGCGGACTGATCCCTCCCAGCGGCCGTTGGGGGCTGGCCCACAATCCCTCGCGAGGGCGGGAAAAGCAATGTGGTCGTTGCGGGGGGGGGGGGTCAGAAAAGGGGGACGGTCAGCGGGAAGAGCCAAGAGACTGCAACTCTACAAAGAGCACGCAGATTAATTCTAATGATTGTTCCCTGAGCTTTTCACACCAAAATAATGGTAACTGGCTAGTGTGTGCCCGTTACGCTCACTACTCCCACTCGAGATCATTCCTATTAATGACTCTGAGGCTTCACCTAACAGGCCACGGTGGAGGCAAGGAAATGTGGCGTGGAGAACCCACTGGGCCTGGCTCTCCGTCCTATGGTCTCCGTCCATCGTTTTACAGTCAGGGTGTACATTTGATGAGGAATCTCTAAATGGGATTTTGGGGAATCAAAACGGAATGGTGCATAAGTGTGAAAATTTACAAGACTGCGCAAAGCTGCAAGGCCCGGAGCCCCGTGCGGCCAGGCCGCAGAGCCGGCCCCTTCCGCTTTACGTCTGACGTCACGCCGCACGCCCCAGCGAGGGCGTGCGGAGTTTGGCTGCTCCGGGGTTAGCAGGTGAGCCTGCGATGCGCGGGAAGACGTTCCGCTTTGAAATGCAGCGGGATTTGGTGAGTTTCCCGCTGTCTCCAGCGGTGCGGGTGAAGCTGGGTGTCTGCGGGGTTCCAGACTGCTGAGGAACTCCTAGAGGTGAAACCCTCCGAGCTTAGCAAAGGTAACGACTCCTGATGGCAAGCTGAGGCACACCGGCCGCCGTCAGCGCCGCCTCAGTCTTCGTTCTCTCGCCTCGGCCTTCAGCCCAGTCTCCGTTAGATTCTGCTTCCTCCCACGTCCATGTTTACAGCGTGAAAGAGCTCCTCGACTCCACTTACAAGTTGTCTGAATGGTTAGGAGAACTGTGGTCGTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTC | pathogenic | 279,608 |
Variant at chromosome 17, position 58692732, gene RAD51C (RAD51 paralog C): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Fanconi_anemia_complementation_group_O', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Inherited_ovarian_cancer_(without_breast_cancer)', 'Ovarian_neoplasm', 'likely other unspecified diseases'] | AGTTAAGCAATGGGTTGAGTGGCCAACCACATTTTGGCCAGTCCTACAAGACTTTCTTTGACCTACCAAATGGGGTATAAATGCTTCTCGTATTCTCCCCGCCAGTAGGGACTCAAAATCTTAATAGCTCGGGGTAGTAAAAAGGATGCTAGGTTTGAATCTTGGCTTTAAGAAAACTGTGCTGAGGTGTTTTGTTTGTTTGAGACAGGGTTTCACTCTATCACCCAAGCTGGAGTGCAGTGGCGTGATCATAGCTCACTCCCAGGCTGAAGGGATCCTCCCACCACAGACTTCTGAGTAGCTGGGACGACCGGTGCATGCCACCATGCCCGGCTAATTTTTTGTACTTTTGGTACAGACAGTGTTTCGCCATGTTGTCGAGGCTGGTCTCAAACTCATGAGCTCAAAGAGATCCACCTGCCTCGACCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACTGCGCCCGGCCAGCTTTTTTTCTTTTATCAGAATTGATATTAAACTATATGCTGAGCTTCCATGTCCTTATCTTCCTTTTGGCATGGCTATGGCCATTTGAAATGTGTGGGATTTGCTAAAGTGCTCAACATACGTTGTTTCCTTTTTTAGATCTAAGTATGTAGAGGGCTCTGATTTGCAATATTTAGAAAGTTCTTCTAAGCTGGGAAGAAAAGTCAAGACTAAGAATCATTGCCAACAGGGCCGGGCGCGGTGGCTCACGCCTGTACTCCCAGCATTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCCTTCTCTAATAATAATACAAAAATTAGCCGGGCATGGTGGCGTGCGCCTGTAATCCCAGGTACTCAAGAGGCTGAGGCAGGAGACTCACTTGAACCCGGGAGGCGAAGGTTGCAGTGAGCCGACATCGTGCCACTGCACTCCATCATGGGCAACACAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAATCGCCAATAGGTAGGGAATAAGTTACCCCCTGCTAAATAAGTTACACTCACCTAGGCAAGGAAGGAACTCATAAACCACCTTCTAAACTGCTTGCCTTCCTCCCCGAAGTTCTGTAATTTAGAGGCGGTCACTACCACTGCTTGAACACCCCTTCCCAAGTCTGTACCACAAAAGGAGCTCTTGTGTAGCCCAGCCCCTCCTTCTCAGGACCCCAGGAGCCCAGACACACTAATGGGGACATTAGTTGCTTACTTTTCCAGCTACTGCTTAAGCTAGGCAGGCCATGAAGAAATAACGGTCTCAGTAACCTCCATGCTCGGGATACGACTCCCGGGAAGACGTGGGTGGGTGCGGGGAATGCGGACTGATCCCTCCCAGCGGCCGTTGGGGGCTGGCCCACAATCCCTCGCGAGGGCGGGAAAAGCAATGTGGTCGTTGCGGGGGGGGGGGGTCAGAAAAGGGGGACGGTCAGCGGGAAGAGCCAAGAGACTGCAACTCTACAAAGAGCACGCAGATTAATTCTAATGATTGTTCCCTGAGCTTTTCACACCAAAATAATGGTAACTGGCTAGTGTGTGCCCGTTACGCTCACTACTCCCACTCGAGATCATTCCTATTAATGACTCTGAGGCTTCACCTAACAGGCCACGGTGGAGGCAAGGAAATGTGGCGTGGAGAACCCACTGGGCCTGGCTCTCCGTCCTATGGTCTCCGTCCATCGTTTTACAGTCAGGGTGTACATTTGATGAGGAATCTCTAAATGGGATTTTGGGGAATCAAAACGGAATGGTGCATAAGTGTGAAAATTTACAAGACTGCGCAAAGCTGCAAGGCCCGGAGCCCCGTGCGGCCAGGCCGCAGAGCCGGCCCCTTCCGCTTTACGTCTGACGTCACGCCGCACGCCCCAGCGAGGGCGTGCGGAGTTTGGCTGCTCCGGGGTTAGCAGGTGAGCCTGCGATGCGCGGGAAGACGTTCCGCTTTGAAATGCAGCGGGATTTGGTGAGTTTCCCGCTGTCTCCAGCGGTGCGGGTGAAGCTGGTGTCTGCGGGGTTCCAGACTGCTGAGGAACTCCTAGAGGTGAAACCCTCCGAGCTTAGCAAAGGTAACGACTCCTGATGGCAAGCTGAGGCACACCGGCCGCCGTCAGCGCCGCCTCAGTCTTCGTTCTCTCGCCTCGGCCTTCAGCCCAGTCTCCGTTAGATTCTGCTTCCTCCCACGTCCATGTTTACAGCGTGAAAGAGCTCCTCGACTCCACTTACAAGTTGTCTGAATGGTTAGGAGAACTGTGGTCGTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACT | AGTTAAGCAATGGGTTGAGTGGCCAACCACATTTTGGCCAGTCCTACAAGACTTTCTTTGACCTACCAAATGGGGTATAAATGCTTCTCGTATTCTCCCCGCCAGTAGGGACTCAAAATCTTAATAGCTCGGGGTAGTAAAAAGGATGCTAGGTTTGAATCTTGGCTTTAAGAAAACTGTGCTGAGGTGTTTTGTTTGTTTGAGACAGGGTTTCACTCTATCACCCAAGCTGGAGTGCAGTGGCGTGATCATAGCTCACTCCCAGGCTGAAGGGATCCTCCCACCACAGACTTCTGAGTAGCTGGGACGACCGGTGCATGCCACCATGCCCGGCTAATTTTTTGTACTTTTGGTACAGACAGTGTTTCGCCATGTTGTCGAGGCTGGTCTCAAACTCATGAGCTCAAAGAGATCCACCTGCCTCGACCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACTGCGCCCGGCCAGCTTTTTTTCTTTTATCAGAATTGATATTAAACTATATGCTGAGCTTCCATGTCCTTATCTTCCTTTTGGCATGGCTATGGCCATTTGAAATGTGTGGGATTTGCTAAAGTGCTCAACATACGTTGTTTCCTTTTTTAGATCTAAGTATGTAGAGGGCTCTGATTTGCAATATTTAGAAAGTTCTTCTAAGCTGGGAAGAAAAGTCAAGACTAAGAATCATTGCCAACAGGGCCGGGCGCGGTGGCTCACGCCTGTACTCCCAGCATTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCCTTCTCTAATAATAATACAAAAATTAGCCGGGCATGGTGGCGTGCGCCTGTAATCCCAGGTACTCAAGAGGCTGAGGCAGGAGACTCACTTGAACCCGGGAGGCGAAGGTTGCAGTGAGCCGACATCGTGCCACTGCACTCCATCATGGGCAACACAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAATCGCCAATAGGTAGGGAATAAGTTACCCCCTGCTAAATAAGTTACACTCACCTAGGCAAGGAAGGAACTCATAAACCACCTTCTAAACTGCTTGCCTTCCTCCCCGAAGTTCTGTAATTTAGAGGCGGTCACTACCACTGCTTGAACACCCCTTCCCAAGTCTGTACCACAAAAGGAGCTCTTGTGTAGCCCAGCCCCTCCTTCTCAGGACCCCAGGAGCCCAGACACACTAATGGGGACATTAGTTGCTTACTTTTCCAGCTACTGCTTAAGCTAGGCAGGCCATGAAGAAATAACGGTCTCAGTAACCTCCATGCTCGGGATACGACTCCCGGGAAGACGTGGGTGGGTGCGGGGAATGCGGACTGATCCCTCCCAGCGGCCGTTGGGGGCTGGCCCACAATCCCTCGCGAGGGCGGGAAAAGCAATGTGGTCGTTGCGGGGGGGGGGGGTCAGAAAAGGGGGACGGTCAGCGGGAAGAGCCAAGAGACTGCAACTCTACAAAGAGCACGCAGATTAATTCTAATGATTGTTCCCTGAGCTTTTCACACCAAAATAATGGTAACTGGCTAGTGTGTGCCCGTTACGCTCACTACTCCCACTCGAGATCATTCCTATTAATGACTCTGAGGCTTCACCTAACAGGCCACGGTGGAGGCAAGGAAATGTGGCGTGGAGAACCCACTGGGCCTGGCTCTCCGTCCTATGGTCTCCGTCCATCGTTTTACAGTCAGGGTGTACATTTGATGAGGAATCTCTAAATGGGATTTTGGGGAATCAAAACGGAATGGTGCATAAGTGTGAAAATTTACAAGACTGCGCAAAGCTGCAAGGCCCGGAGCCCCGTGCGGCCAGGCCGCAGAGCCGGCCCCTTCCGCTTTACGTCTGACGTCACGCCGCACGCCCCAGCGAGGGCGTGCGGAGTTTGGCTGCTCCGGGGTTAGCAGGTGAGCCTGCGATGCGCGGGAAGACGTTCCGCTTTGAAATGCAGCGGGATTTGGTGAGTTTCCCGCTGTCTCCAGCGGTGCGGGTGAAGCTGGTGTCTGCGGGTTCCAGACTGCTGAGGAACTCCTAGAGGTGAAACCCTCCGAGCTTAGCAAAGGTAACGACTCCTGATGGCAAGCTGAGGCACACCGGCCGCCGTCAGCGCCGCCTCAGTCTTCGTTCTCTCGCCTCGGCCTTCAGCCCAGTCTCCGTTAGATTCTGCTTCCTCCCACGTCCATGTTTACAGCGTGAAAGAGCTCCTCGACTCCACTTACAAGTTGTCTGAATGGTTAGGAGAACTGTGGTCGTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTN | pathogenic | 279,611 |
A genetic alteration at chromosome 17, position 58692739, in gene RAD51C (RAD51 paralog C)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Fanconi_anemia_complementation_group_O', 'Hereditary_cancer-predisposing_syndrome'] | CAATGGGTTGAGTGGCCAACCACATTTTGGCCAGTCCTACAAGACTTTCTTTGACCTACCAAATGGGGTATAAATGCTTCTCGTATTCTCCCCGCCAGTAGGGACTCAAAATCTTAATAGCTCGGGGTAGTAAAAAGGATGCTAGGTTTGAATCTTGGCTTTAAGAAAACTGTGCTGAGGTGTTTTGTTTGTTTGAGACAGGGTTTCACTCTATCACCCAAGCTGGAGTGCAGTGGCGTGATCATAGCTCACTCCCAGGCTGAAGGGATCCTCCCACCACAGACTTCTGAGTAGCTGGGACGACCGGTGCATGCCACCATGCCCGGCTAATTTTTTGTACTTTTGGTACAGACAGTGTTTCGCCATGTTGTCGAGGCTGGTCTCAAACTCATGAGCTCAAAGAGATCCACCTGCCTCGACCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACTGCGCCCGGCCAGCTTTTTTTCTTTTATCAGAATTGATATTAAACTATATGCTGAGCTTCCATGTCCTTATCTTCCTTTTGGCATGGCTATGGCCATTTGAAATGTGTGGGATTTGCTAAAGTGCTCAACATACGTTGTTTCCTTTTTTAGATCTAAGTATGTAGAGGGCTCTGATTTGCAATATTTAGAAAGTTCTTCTAAGCTGGGAAGAAAAGTCAAGACTAAGAATCATTGCCAACAGGGCCGGGCGCGGTGGCTCACGCCTGTACTCCCAGCATTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCCTTCTCTAATAATAATACAAAAATTAGCCGGGCATGGTGGCGTGCGCCTGTAATCCCAGGTACTCAAGAGGCTGAGGCAGGAGACTCACTTGAACCCGGGAGGCGAAGGTTGCAGTGAGCCGACATCGTGCCACTGCACTCCATCATGGGCAACACAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAATCGCCAATAGGTAGGGAATAAGTTACCCCCTGCTAAATAAGTTACACTCACCTAGGCAAGGAAGGAACTCATAAACCACCTTCTAAACTGCTTGCCTTCCTCCCCGAAGTTCTGTAATTTAGAGGCGGTCACTACCACTGCTTGAACACCCCTTCCCAAGTCTGTACCACAAAAGGAGCTCTTGTGTAGCCCAGCCCCTCCTTCTCAGGACCCCAGGAGCCCAGACACACTAATGGGGACATTAGTTGCTTACTTTTCCAGCTACTGCTTAAGCTAGGCAGGCCATGAAGAAATAACGGTCTCAGTAACCTCCATGCTCGGGATACGACTCCCGGGAAGACGTGGGTGGGTGCGGGGAATGCGGACTGATCCCTCCCAGCGGCCGTTGGGGGCTGGCCCACAATCCCTCGCGAGGGCGGGAAAAGCAATGTGGTCGTTGCGGGGGGGGGGGGTCAGAAAAGGGGGACGGTCAGCGGGAAGAGCCAAGAGACTGCAACTCTACAAAGAGCACGCAGATTAATTCTAATGATTGTTCCCTGAGCTTTTCACACCAAAATAATGGTAACTGGCTAGTGTGTGCCCGTTACGCTCACTACTCCCACTCGAGATCATTCCTATTAATGACTCTGAGGCTTCACCTAACAGGCCACGGTGGAGGCAAGGAAATGTGGCGTGGAGAACCCACTGGGCCTGGCTCTCCGTCCTATGGTCTCCGTCCATCGTTTTACAGTCAGGGTGTACATTTGATGAGGAATCTCTAAATGGGATTTTGGGGAATCAAAACGGAATGGTGCATAAGTGTGAAAATTTACAAGACTGCGCAAAGCTGCAAGGCCCGGAGCCCCGTGCGGCCAGGCCGCAGAGCCGGCCCCTTCCGCTTTACGTCTGACGTCACGCCGCACGCCCCAGCGAGGGCGTGCGGAGTTTGGCTGCTCCGGGGTTAGCAGGTGAGCCTGCGATGCGCGGGAAGACGTTCCGCTTTGAAATGCAGCGGGATTTGGTGAGTTTCCCGCTGTCTCCAGCGGTGCGGGTGAAGCTGGTGTCTGCGGGGTTCCAGACTGCTGAGGAACTCCTAGAGGTGAAACCCTCCGAGCTTAGCAAAGGTAACGACTCCTGATGGCAAGCTGAGGCACACCGGCCGCCGTCAGCGCCGCCTCAGTCTTCGTTCTCTCGCCTCGGCCTTCAGCCCAGTCTCCGTTAGATTCTGCTTCCTCCCACGTCCATGTTTACAGCGTGAAAGAGCTCCTCGACTCCACTTACAAGTTGTCTGAATGGTTAGGAGAACTGTGGTCGTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAAT | CAATGGGTTGAGTGGCCAACCACATTTTGGCCAGTCCTACAAGACTTTCTTTGACCTACCAAATGGGGTATAAATGCTTCTCGTATTCTCCCCGCCAGTAGGGACTCAAAATCTTAATAGCTCGGGGTAGTAAAAAGGATGCTAGGTTTGAATCTTGGCTTTAAGAAAACTGTGCTGAGGTGTTTTGTTTGTTTGAGACAGGGTTTCACTCTATCACCCAAGCTGGAGTGCAGTGGCGTGATCATAGCTCACTCCCAGGCTGAAGGGATCCTCCCACCACAGACTTCTGAGTAGCTGGGACGACCGGTGCATGCCACCATGCCCGGCTAATTTTTTGTACTTTTGGTACAGACAGTGTTTCGCCATGTTGTCGAGGCTGGTCTCAAACTCATGAGCTCAAAGAGATCCACCTGCCTCGACCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACTGCGCCCGGCCAGCTTTTTTTCTTTTATCAGAATTGATATTAAACTATATGCTGAGCTTCCATGTCCTTATCTTCCTTTTGGCATGGCTATGGCCATTTGAAATGTGTGGGATTTGCTAAAGTGCTCAACATACGTTGTTTCCTTTTTTAGATCTAAGTATGTAGAGGGCTCTGATTTGCAATATTTAGAAAGTTCTTCTAAGCTGGGAAGAAAAGTCAAGACTAAGAATCATTGCCAACAGGGCCGGGCGCGGTGGCTCACGCCTGTACTCCCAGCATTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCCTTCTCTAATAATAATACAAAAATTAGCCGGGCATGGTGGCGTGCGCCTGTAATCCCAGGTACTCAAGAGGCTGAGGCAGGAGACTCACTTGAACCCGGGAGGCGAAGGTTGCAGTGAGCCGACATCGTGCCACTGCACTCCATCATGGGCAACACAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAATCGCCAATAGGTAGGGAATAAGTTACCCCCTGCTAAATAAGTTACACTCACCTAGGCAAGGAAGGAACTCATAAACCACCTTCTAAACTGCTTGCCTTCCTCCCCGAAGTTCTGTAATTTAGAGGCGGTCACTACCACTGCTTGAACACCCCTTCCCAAGTCTGTACCACAAAAGGAGCTCTTGTGTAGCCCAGCCCCTCCTTCTCAGGACCCCAGGAGCCCAGACACACTAATGGGGACATTAGTTGCTTACTTTTCCAGCTACTGCTTAAGCTAGGCAGGCCATGAAGAAATAACGGTCTCAGTAACCTCCATGCTCGGGATACGACTCCCGGGAAGACGTGGGTGGGTGCGGGGAATGCGGACTGATCCCTCCCAGCGGCCGTTGGGGGCTGGCCCACAATCCCTCGCGAGGGCGGGAAAAGCAATGTGGTCGTTGCGGGGGGGGGGGGTCAGAAAAGGGGGACGGTCAGCGGGAAGAGCCAAGAGACTGCAACTCTACAAAGAGCACGCAGATTAATTCTAATGATTGTTCCCTGAGCTTTTCACACCAAAATAATGGTAACTGGCTAGTGTGTGCCCGTTACGCTCACTACTCCCACTCGAGATCATTCCTATTAATGACTCTGAGGCTTCACCTAACAGGCCACGGTGGAGGCAAGGAAATGTGGCGTGGAGAACCCACTGGGCCTGGCTCTCCGTCCTATGGTCTCCGTCCATCGTTTTACAGTCAGGGTGTACATTTGATGAGGAATCTCTAAATGGGATTTTGGGGAATCAAAACGGAATGGTGCATAAGTGTGAAAATTTACAAGACTGCGCAAAGCTGCAAGGCCCGGAGCCCCGTGCGGCCAGGCCGCAGAGCCGGCCCCTTCCGCTTTACGTCTGACGTCACGCCGCACGCCCCAGCGAGGGCGTGCGGAGTTTGGCTGCTCCGGGGTTAGCAGGTGAGCCTGCGATGCGCGGGAAGACGTTCCGCTTTGAAATGCAGCGGGATTTGGTGAGTTTCCCGCTGTCTCCAGCGGTGCGGGTGAAGCTGGTGTCTGCGGGGTTCGACTGCTGAGGAACTCCTAGAGGTGAAACCCTCCGAGCTTAGCAAAGGTAACGACTCCTGATGGCAAGCTGAGGCACACCGGCCGCCGTCAGCGCCGCCTCAGTCTTCGTTCTCTCGCCTCGGCCTTCAGCCCAGTCTCCGTTAGATTCTGCTTCCTCCCACGTCCATGTTTACAGCGTGAAAGAGCTCCTCGACTCCACTTACAAGTTGTCTGAATGGTTAGGAGAACTGTGGTCGTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATNN | pathogenic | 279,615 |
Chromosome 17, position 58692750, gene RAD51C (RAD51 paralog C): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Fanconi_anemia_complementation_group_O'] | GTGGCCAACCACATTTTGGCCAGTCCTACAAGACTTTCTTTGACCTACCAAATGGGGTATAAATGCTTCTCGTATTCTCCCCGCCAGTAGGGACTCAAAATCTTAATAGCTCGGGGTAGTAAAAAGGATGCTAGGTTTGAATCTTGGCTTTAAGAAAACTGTGCTGAGGTGTTTTGTTTGTTTGAGACAGGGTTTCACTCTATCACCCAAGCTGGAGTGCAGTGGCGTGATCATAGCTCACTCCCAGGCTGAAGGGATCCTCCCACCACAGACTTCTGAGTAGCTGGGACGACCGGTGCATGCCACCATGCCCGGCTAATTTTTTGTACTTTTGGTACAGACAGTGTTTCGCCATGTTGTCGAGGCTGGTCTCAAACTCATGAGCTCAAAGAGATCCACCTGCCTCGACCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACTGCGCCCGGCCAGCTTTTTTTCTTTTATCAGAATTGATATTAAACTATATGCTGAGCTTCCATGTCCTTATCTTCCTTTTGGCATGGCTATGGCCATTTGAAATGTGTGGGATTTGCTAAAGTGCTCAACATACGTTGTTTCCTTTTTTAGATCTAAGTATGTAGAGGGCTCTGATTTGCAATATTTAGAAAGTTCTTCTAAGCTGGGAAGAAAAGTCAAGACTAAGAATCATTGCCAACAGGGCCGGGCGCGGTGGCTCACGCCTGTACTCCCAGCATTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCCTTCTCTAATAATAATACAAAAATTAGCCGGGCATGGTGGCGTGCGCCTGTAATCCCAGGTACTCAAGAGGCTGAGGCAGGAGACTCACTTGAACCCGGGAGGCGAAGGTTGCAGTGAGCCGACATCGTGCCACTGCACTCCATCATGGGCAACACAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAATCGCCAATAGGTAGGGAATAAGTTACCCCCTGCTAAATAAGTTACACTCACCTAGGCAAGGAAGGAACTCATAAACCACCTTCTAAACTGCTTGCCTTCCTCCCCGAAGTTCTGTAATTTAGAGGCGGTCACTACCACTGCTTGAACACCCCTTCCCAAGTCTGTACCACAAAAGGAGCTCTTGTGTAGCCCAGCCCCTCCTTCTCAGGACCCCAGGAGCCCAGACACACTAATGGGGACATTAGTTGCTTACTTTTCCAGCTACTGCTTAAGCTAGGCAGGCCATGAAGAAATAACGGTCTCAGTAACCTCCATGCTCGGGATACGACTCCCGGGAAGACGTGGGTGGGTGCGGGGAATGCGGACTGATCCCTCCCAGCGGCCGTTGGGGGCTGGCCCACAATCCCTCGCGAGGGCGGGAAAAGCAATGTGGTCGTTGCGGGGGGGGGGGGTCAGAAAAGGGGGACGGTCAGCGGGAAGAGCCAAGAGACTGCAACTCTACAAAGAGCACGCAGATTAATTCTAATGATTGTTCCCTGAGCTTTTCACACCAAAATAATGGTAACTGGCTAGTGTGTGCCCGTTACGCTCACTACTCCCACTCGAGATCATTCCTATTAATGACTCTGAGGCTTCACCTAACAGGCCACGGTGGAGGCAAGGAAATGTGGCGTGGAGAACCCACTGGGCCTGGCTCTCCGTCCTATGGTCTCCGTCCATCGTTTTACAGTCAGGGTGTACATTTGATGAGGAATCTCTAAATGGGATTTTGGGGAATCAAAACGGAATGGTGCATAAGTGTGAAAATTTACAAGACTGCGCAAAGCTGCAAGGCCCGGAGCCCCGTGCGGCCAGGCCGCAGAGCCGGCCCCTTCCGCTTTACGTCTGACGTCACGCCGCACGCCCCAGCGAGGGCGTGCGGAGTTTGGCTGCTCCGGGGTTAGCAGGTGAGCCTGCGATGCGCGGGAAGACGTTCCGCTTTGAAATGCAGCGGGATTTGGTGAGTTTCCCGCTGTCTCCAGCGGTGCGGGTGAAGCTGGTGTCTGCGGGGTTCCAGACTGCTGAGGAACTCCTAGAGGTGAAACCCTCCGAGCTTAGCAAAGGTAACGACTCCTGATGGCAAGCTGAGGCACACCGGCCGCCGTCAGCGCCGCCTCAGTCTTCGTTCTCTCGCCTCGGCCTTCAGCCCAGTCTCCGTTAGATTCTGCTTCCTCCCACGTCCATGTTTACAGCGTGAAAGAGCTCCTCGACTCCACTTACAAGTTGTCTGAATGGTTAGGAGAACTGTGGTCGTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGA | GTGGCCAACCACATTTTGGCCAGTCCTACAAGACTTTCTTTGACCTACCAAATGGGGTATAAATGCTTCTCGTATTCTCCCCGCCAGTAGGGACTCAAAATCTTAATAGCTCGGGGTAGTAAAAAGGATGCTAGGTTTGAATCTTGGCTTTAAGAAAACTGTGCTGAGGTGTTTTGTTTGTTTGAGACAGGGTTTCACTCTATCACCCAAGCTGGAGTGCAGTGGCGTGATCATAGCTCACTCCCAGGCTGAAGGGATCCTCCCACCACAGACTTCTGAGTAGCTGGGACGACCGGTGCATGCCACCATGCCCGGCTAATTTTTTGTACTTTTGGTACAGACAGTGTTTCGCCATGTTGTCGAGGCTGGTCTCAAACTCATGAGCTCAAAGAGATCCACCTGCCTCGACCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACTGCGCCCGGCCAGCTTTTTTTCTTTTATCAGAATTGATATTAAACTATATGCTGAGCTTCCATGTCCTTATCTTCCTTTTGGCATGGCTATGGCCATTTGAAATGTGTGGGATTTGCTAAAGTGCTCAACATACGTTGTTTCCTTTTTTAGATCTAAGTATGTAGAGGGCTCTGATTTGCAATATTTAGAAAGTTCTTCTAAGCTGGGAAGAAAAGTCAAGACTAAGAATCATTGCCAACAGGGCCGGGCGCGGTGGCTCACGCCTGTACTCCCAGCATTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCCTTCTCTAATAATAATACAAAAATTAGCCGGGCATGGTGGCGTGCGCCTGTAATCCCAGGTACTCAAGAGGCTGAGGCAGGAGACTCACTTGAACCCGGGAGGCGAAGGTTGCAGTGAGCCGACATCGTGCCACTGCACTCCATCATGGGCAACACAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAATCGCCAATAGGTAGGGAATAAGTTACCCCCTGCTAAATAAGTTACACTCACCTAGGCAAGGAAGGAACTCATAAACCACCTTCTAAACTGCTTGCCTTCCTCCCCGAAGTTCTGTAATTTAGAGGCGGTCACTACCACTGCTTGAACACCCCTTCCCAAGTCTGTACCACAAAAGGAGCTCTTGTGTAGCCCAGCCCCTCCTTCTCAGGACCCCAGGAGCCCAGACACACTAATGGGGACATTAGTTGCTTACTTTTCCAGCTACTGCTTAAGCTAGGCAGGCCATGAAGAAATAACGGTCTCAGTAACCTCCATGCTCGGGATACGACTCCCGGGAAGACGTGGGTGGGTGCGGGGAATGCGGACTGATCCCTCCCAGCGGCCGTTGGGGGCTGGCCCACAATCCCTCGCGAGGGCGGGAAAAGCAATGTGGTCGTTGCGGGGGGGGGGGGTCAGAAAAGGGGGACGGTCAGCGGGAAGAGCCAAGAGACTGCAACTCTACAAAGAGCACGCAGATTAATTCTAATGATTGTTCCCTGAGCTTTTCACACCAAAATAATGGTAACTGGCTAGTGTGTGCCCGTTACGCTCACTACTCCCACTCGAGATCATTCCTATTAATGACTCTGAGGCTTCACCTAACAGGCCACGGTGGAGGCAAGGAAATGTGGCGTGGAGAACCCACTGGGCCTGGCTCTCCGTCCTATGGTCTCCGTCCATCGTTTTACAGTCAGGGTGTACATTTGATGAGGAATCTCTAAATGGGATTTTGGGGAATCAAAACGGAATGGTGCATAAGTGTGAAAATTTACAAGACTGCGCAAAGCTGCAAGGCCCGGAGCCCCGTGCGGCCAGGCCGCAGAGCCGGCCCCTTCCGCTTTACGTCTGACGTCACGCCGCACGCCCCAGCGAGGGCGTGCGGAGTTTGGCTGCTCCGGGGTTAGCAGGTGAGCCTGCGATGCGCGGGAAGACGTTCCGCTTTGAAATGCAGCGGGATTTGGTGAGTTTCCCGCTGTCTCCAGCGGTGCGGGTGAAGCTGGTGTCTGCGGGGTTCCAGACTGCTGAGAACTCCTAGAGGTGAAACCCTCCGAGCTTAGCAAAGGTAACGACTCCTGATGGCAAGCTGAGGCACACCGGCCGCCGTCAGCGCCGCCTCAGTCTTCGTTCTCTCGCCTCGGCCTTCAGCCCAGTCTCCGTTAGATTCTGCTTCCTCCCACGTCCATGTTTACAGCGTGAAAGAGCTCCTCGACTCCACTTACAAGTTGTCTGAATGGTTAGGAGAACTGTGGTCGTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGAN | pathogenic | 279,619 |
Gene RAD51C (RAD51 paralog C) variant at chromosome 17, position 58692764—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Fanconi_anemia_complementation_group_O', 'Hereditary_cancer-predisposing_syndrome'] | TTTGGCCAGTCCTACAAGACTTTCTTTGACCTACCAAATGGGGTATAAATGCTTCTCGTATTCTCCCCGCCAGTAGGGACTCAAAATCTTAATAGCTCGGGGTAGTAAAAAGGATGCTAGGTTTGAATCTTGGCTTTAAGAAAACTGTGCTGAGGTGTTTTGTTTGTTTGAGACAGGGTTTCACTCTATCACCCAAGCTGGAGTGCAGTGGCGTGATCATAGCTCACTCCCAGGCTGAAGGGATCCTCCCACCACAGACTTCTGAGTAGCTGGGACGACCGGTGCATGCCACCATGCCCGGCTAATTTTTTGTACTTTTGGTACAGACAGTGTTTCGCCATGTTGTCGAGGCTGGTCTCAAACTCATGAGCTCAAAGAGATCCACCTGCCTCGACCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACTGCGCCCGGCCAGCTTTTTTTCTTTTATCAGAATTGATATTAAACTATATGCTGAGCTTCCATGTCCTTATCTTCCTTTTGGCATGGCTATGGCCATTTGAAATGTGTGGGATTTGCTAAAGTGCTCAACATACGTTGTTTCCTTTTTTAGATCTAAGTATGTAGAGGGCTCTGATTTGCAATATTTAGAAAGTTCTTCTAAGCTGGGAAGAAAAGTCAAGACTAAGAATCATTGCCAACAGGGCCGGGCGCGGTGGCTCACGCCTGTACTCCCAGCATTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCCTTCTCTAATAATAATACAAAAATTAGCCGGGCATGGTGGCGTGCGCCTGTAATCCCAGGTACTCAAGAGGCTGAGGCAGGAGACTCACTTGAACCCGGGAGGCGAAGGTTGCAGTGAGCCGACATCGTGCCACTGCACTCCATCATGGGCAACACAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAATCGCCAATAGGTAGGGAATAAGTTACCCCCTGCTAAATAAGTTACACTCACCTAGGCAAGGAAGGAACTCATAAACCACCTTCTAAACTGCTTGCCTTCCTCCCCGAAGTTCTGTAATTTAGAGGCGGTCACTACCACTGCTTGAACACCCCTTCCCAAGTCTGTACCACAAAAGGAGCTCTTGTGTAGCCCAGCCCCTCCTTCTCAGGACCCCAGGAGCCCAGACACACTAATGGGGACATTAGTTGCTTACTTTTCCAGCTACTGCTTAAGCTAGGCAGGCCATGAAGAAATAACGGTCTCAGTAACCTCCATGCTCGGGATACGACTCCCGGGAAGACGTGGGTGGGTGCGGGGAATGCGGACTGATCCCTCCCAGCGGCCGTTGGGGGCTGGCCCACAATCCCTCGCGAGGGCGGGAAAAGCAATGTGGTCGTTGCGGGGGGGGGGGGTCAGAAAAGGGGGACGGTCAGCGGGAAGAGCCAAGAGACTGCAACTCTACAAAGAGCACGCAGATTAATTCTAATGATTGTTCCCTGAGCTTTTCACACCAAAATAATGGTAACTGGCTAGTGTGTGCCCGTTACGCTCACTACTCCCACTCGAGATCATTCCTATTAATGACTCTGAGGCTTCACCTAACAGGCCACGGTGGAGGCAAGGAAATGTGGCGTGGAGAACCCACTGGGCCTGGCTCTCCGTCCTATGGTCTCCGTCCATCGTTTTACAGTCAGGGTGTACATTTGATGAGGAATCTCTAAATGGGATTTTGGGGAATCAAAACGGAATGGTGCATAAGTGTGAAAATTTACAAGACTGCGCAAAGCTGCAAGGCCCGGAGCCCCGTGCGGCCAGGCCGCAGAGCCGGCCCCTTCCGCTTTACGTCTGACGTCACGCCGCACGCCCCAGCGAGGGCGTGCGGAGTTTGGCTGCTCCGGGGTTAGCAGGTGAGCCTGCGATGCGCGGGAAGACGTTCCGCTTTGAAATGCAGCGGGATTTGGTGAGTTTCCCGCTGTCTCCAGCGGTGCGGGTGAAGCTGGTGTCTGCGGGGTTCCAGACTGCTGAGGAACTCCTAGAGGTGAAACCCTCCGAGCTTAGCAAAGGTAACGACTCCTGATGGCAAGCTGAGGCACACCGGCCGCCGTCAGCGCCGCCTCAGTCTTCGTTCTCTCGCCTCGGCCTTCAGCCCAGTCTCCGTTAGATTCTGCTTCCTCCCACGTCCATGTTTACAGCGTGAAAGAGCTCCTCGACTCCACTTACAAGTTGTCTGAATGGTTAGGAGAACTGTGGTCGTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATT | TTTGGCCAGTCCTACAAGACTTTCTTTGACCTACCAAATGGGGTATAAATGCTTCTCGTATTCTCCCCGCCAGTAGGGACTCAAAATCTTAATAGCTCGGGGTAGTAAAAAGGATGCTAGGTTTGAATCTTGGCTTTAAGAAAACTGTGCTGAGGTGTTTTGTTTGTTTGAGACAGGGTTTCACTCTATCACCCAAGCTGGAGTGCAGTGGCGTGATCATAGCTCACTCCCAGGCTGAAGGGATCCTCCCACCACAGACTTCTGAGTAGCTGGGACGACCGGTGCATGCCACCATGCCCGGCTAATTTTTTGTACTTTTGGTACAGACAGTGTTTCGCCATGTTGTCGAGGCTGGTCTCAAACTCATGAGCTCAAAGAGATCCACCTGCCTCGACCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACTGCGCCCGGCCAGCTTTTTTTCTTTTATCAGAATTGATATTAAACTATATGCTGAGCTTCCATGTCCTTATCTTCCTTTTGGCATGGCTATGGCCATTTGAAATGTGTGGGATTTGCTAAAGTGCTCAACATACGTTGTTTCCTTTTTTAGATCTAAGTATGTAGAGGGCTCTGATTTGCAATATTTAGAAAGTTCTTCTAAGCTGGGAAGAAAAGTCAAGACTAAGAATCATTGCCAACAGGGCCGGGCGCGGTGGCTCACGCCTGTACTCCCAGCATTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCCTTCTCTAATAATAATACAAAAATTAGCCGGGCATGGTGGCGTGCGCCTGTAATCCCAGGTACTCAAGAGGCTGAGGCAGGAGACTCACTTGAACCCGGGAGGCGAAGGTTGCAGTGAGCCGACATCGTGCCACTGCACTCCATCATGGGCAACACAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAATCGCCAATAGGTAGGGAATAAGTTACCCCCTGCTAAATAAGTTACACTCACCTAGGCAAGGAAGGAACTCATAAACCACCTTCTAAACTGCTTGCCTTCCTCCCCGAAGTTCTGTAATTTAGAGGCGGTCACTACCACTGCTTGAACACCCCTTCCCAAGTCTGTACCACAAAAGGAGCTCTTGTGTAGCCCAGCCCCTCCTTCTCAGGACCCCAGGAGCCCAGACACACTAATGGGGACATTAGTTGCTTACTTTTCCAGCTACTGCTTAAGCTAGGCAGGCCATGAAGAAATAACGGTCTCAGTAACCTCCATGCTCGGGATACGACTCCCGGGAAGACGTGGGTGGGTGCGGGGAATGCGGACTGATCCCTCCCAGCGGCCGTTGGGGGCTGGCCCACAATCCCTCGCGAGGGCGGGAAAAGCAATGTGGTCGTTGCGGGGGGGGGGGGTCAGAAAAGGGGGACGGTCAGCGGGAAGAGCCAAGAGACTGCAACTCTACAAAGAGCACGCAGATTAATTCTAATGATTGTTCCCTGAGCTTTTCACACCAAAATAATGGTAACTGGCTAGTGTGTGCCCGTTACGCTCACTACTCCCACTCGAGATCATTCCTATTAATGACTCTGAGGCTTCACCTAACAGGCCACGGTGGAGGCAAGGAAATGTGGCGTGGAGAACCCACTGGGCCTGGCTCTCCGTCCTATGGTCTCCGTCCATCGTTTTACAGTCAGGGTGTACATTTGATGAGGAATCTCTAAATGGGATTTTGGGGAATCAAAACGGAATGGTGCATAAGTGTGAAAATTTACAAGACTGCGCAAAGCTGCAAGGCCCGGAGCCCCGTGCGGCCAGGCCGCAGAGCCGGCCCCTTCCGCTTTACGTCTGACGTCACGCCGCACGCCCCAGCGAGGGCGTGCGGAGTTTGGCTGCTCCGGGGTTAGCAGGTGAGCCTGCGATGCGCGGGAAGACGTTCCGCTTTGAAATGCAGCGGGATTTGGTGAGTTTCCCGCTGTCTCCAGCGGTGCGGGTGAAGCTGGTGTCTGCGGGGTTCCAGACTGCTGAGGAACTCCTAGAGGGAAACCCTCCGAGCTTAGCAAAGGTAACGACTCCTGATGGCAAGCTGAGGCACACCGGCCGCCGTCAGCGCCGCCTCAGTCTTCGTTCTCTCGCCTCGGCCTTCAGCCCAGTCTCCGTTAGATTCTGCTTCCTCCCACGTCCATGTTTACAGCGTGAAAGAGCTCCTCGACTCCACTTACAAGTTGTCTGAATGGTTAGGAGAACTGTGGTCGTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTN | pathogenic | 279,624 |
Clinical significance of chromosome 17, position 58692790, gene RAD51C: benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Fanconi_anemia_complementation_group_O'] | TGACCTACCAAATGGGGTATAAATGCTTCTCGTATTCTCCCCGCCAGTAGGGACTCAAAATCTTAATAGCTCGGGGTAGTAAAAAGGATGCTAGGTTTGAATCTTGGCTTTAAGAAAACTGTGCTGAGGTGTTTTGTTTGTTTGAGACAGGGTTTCACTCTATCACCCAAGCTGGAGTGCAGTGGCGTGATCATAGCTCACTCCCAGGCTGAAGGGATCCTCCCACCACAGACTTCTGAGTAGCTGGGACGACCGGTGCATGCCACCATGCCCGGCTAATTTTTTGTACTTTTGGTACAGACAGTGTTTCGCCATGTTGTCGAGGCTGGTCTCAAACTCATGAGCTCAAAGAGATCCACCTGCCTCGACCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACTGCGCCCGGCCAGCTTTTTTTCTTTTATCAGAATTGATATTAAACTATATGCTGAGCTTCCATGTCCTTATCTTCCTTTTGGCATGGCTATGGCCATTTGAAATGTGTGGGATTTGCTAAAGTGCTCAACATACGTTGTTTCCTTTTTTAGATCTAAGTATGTAGAGGGCTCTGATTTGCAATATTTAGAAAGTTCTTCTAAGCTGGGAAGAAAAGTCAAGACTAAGAATCATTGCCAACAGGGCCGGGCGCGGTGGCTCACGCCTGTACTCCCAGCATTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCCTTCTCTAATAATAATACAAAAATTAGCCGGGCATGGTGGCGTGCGCCTGTAATCCCAGGTACTCAAGAGGCTGAGGCAGGAGACTCACTTGAACCCGGGAGGCGAAGGTTGCAGTGAGCCGACATCGTGCCACTGCACTCCATCATGGGCAACACAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAATCGCCAATAGGTAGGGAATAAGTTACCCCCTGCTAAATAAGTTACACTCACCTAGGCAAGGAAGGAACTCATAAACCACCTTCTAAACTGCTTGCCTTCCTCCCCGAAGTTCTGTAATTTAGAGGCGGTCACTACCACTGCTTGAACACCCCTTCCCAAGTCTGTACCACAAAAGGAGCTCTTGTGTAGCCCAGCCCCTCCTTCTCAGGACCCCAGGAGCCCAGACACACTAATGGGGACATTAGTTGCTTACTTTTCCAGCTACTGCTTAAGCTAGGCAGGCCATGAAGAAATAACGGTCTCAGTAACCTCCATGCTCGGGATACGACTCCCGGGAAGACGTGGGTGGGTGCGGGGAATGCGGACTGATCCCTCCCAGCGGCCGTTGGGGGCTGGCCCACAATCCCTCGCGAGGGCGGGAAAAGCAATGTGGTCGTTGCGGGGGGGGGGGGTCAGAAAAGGGGGACGGTCAGCGGGAAGAGCCAAGAGACTGCAACTCTACAAAGAGCACGCAGATTAATTCTAATGATTGTTCCCTGAGCTTTTCACACCAAAATAATGGTAACTGGCTAGTGTGTGCCCGTTACGCTCACTACTCCCACTCGAGATCATTCCTATTAATGACTCTGAGGCTTCACCTAACAGGCCACGGTGGAGGCAAGGAAATGTGGCGTGGAGAACCCACTGGGCCTGGCTCTCCGTCCTATGGTCTCCGTCCATCGTTTTACAGTCAGGGTGTACATTTGATGAGGAATCTCTAAATGGGATTTTGGGGAATCAAAACGGAATGGTGCATAAGTGTGAAAATTTACAAGACTGCGCAAAGCTGCAAGGCCCGGAGCCCCGTGCGGCCAGGCCGCAGAGCCGGCCCCTTCCGCTTTACGTCTGACGTCACGCCGCACGCCCCAGCGAGGGCGTGCGGAGTTTGGCTGCTCCGGGGTTAGCAGGTGAGCCTGCGATGCGCGGGAAGACGTTCCGCTTTGAAATGCAGCGGGATTTGGTGAGTTTCCCGCTGTCTCCAGCGGTGCGGGTGAAGCTGGTGTCTGCGGGGTTCCAGACTGCTGAGGAACTCCTAGAGGTGAAACCCTCCGAGCTTAGCAAAGGTAACGACTCCTGATGGCAAGCTGAGGCACACCGGCCGCCGTCAGCGCCGCCTCAGTCTTCGTTCTCTCGCCTCGGCCTTCAGCCCAGTCTCCGTTAGATTCTGCTTCCTCCCACGTCCATGTTTACAGCGTGAAAGAGCTCCTCGACTCCACTTACAAGTTGTCTGAATGGTTAGGAGAACTGTGGTCGTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCA | TGACCTACCAAATGGGGTATAAATGCTTCTCGTATTCTCCCCGCCAGTAGGGACTCAAAATCTTAATAGCTCGGGGTAGTAAAAAGGATGCTAGGTTTGAATCTTGGCTTTAAGAAAACTGTGCTGAGGTGTTTTGTTTGTTTGAGACAGGGTTTCACTCTATCACCCAAGCTGGAGTGCAGTGGCGTGATCATAGCTCACTCCCAGGCTGAAGGGATCCTCCCACCACAGACTTCTGAGTAGCTGGGACGACCGGTGCATGCCACCATGCCCGGCTAATTTTTTGTACTTTTGGTACAGACAGTGTTTCGCCATGTTGTCGAGGCTGGTCTCAAACTCATGAGCTCAAAGAGATCCACCTGCCTCGACCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACTGCGCCCGGCCAGCTTTTTTTCTTTTATCAGAATTGATATTAAACTATATGCTGAGCTTCCATGTCCTTATCTTCCTTTTGGCATGGCTATGGCCATTTGAAATGTGTGGGATTTGCTAAAGTGCTCAACATACGTTGTTTCCTTTTTTAGATCTAAGTATGTAGAGGGCTCTGATTTGCAATATTTAGAAAGTTCTTCTAAGCTGGGAAGAAAAGTCAAGACTAAGAATCATTGCCAACAGGGCCGGGCGCGGTGGCTCACGCCTGTACTCCCAGCATTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCCTTCTCTAATAATAATACAAAAATTAGCCGGGCATGGTGGCGTGCGCCTGTAATCCCAGGTACTCAAGAGGCTGAGGCAGGAGACTCACTTGAACCCGGGAGGCGAAGGTTGCAGTGAGCCGACATCGTGCCACTGCACTCCATCATGGGCAACACAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAATCGCCAATAGGTAGGGAATAAGTTACCCCCTGCTAAATAAGTTACACTCACCTAGGCAAGGAAGGAACTCATAAACCACCTTCTAAACTGCTTGCCTTCCTCCCCGAAGTTCTGTAATTTAGAGGCGGTCACTACCACTGCTTGAACACCCCTTCCCAAGTCTGTACCACAAAAGGAGCTCTTGTGTAGCCCAGCCCCTCCTTCTCAGGACCCCAGGAGCCCAGACACACTAATGGGGACATTAGTTGCTTACTTTTCCAGCTACTGCTTAAGCTAGGCAGGCCATGAAGAAATAACGGTCTCAGTAACCTCCATGCTCGGGATACGACTCCCGGGAAGACGTGGGTGGGTGCGGGGAATGCGGACTGATCCCTCCCAGCGGCCGTTGGGGGCTGGCCCACAATCCCTCGCGAGGGCGGGAAAAGCAATGTGGTCGTTGCGGGGGGGGGGGGTCAGAAAAGGGGGACGGTCAGCGGGAAGAGCCAAGAGACTGCAACTCTACAAAGAGCACGCAGATTAATTCTAATGATTGTTCCCTGAGCTTTTCACACCAAAATAATGGTAACTGGCTAGTGTGTGCCCGTTACGCTCACTACTCCCACTCGAGATCATTCCTATTAATGACTCTGAGGCTTCACCTAACAGGCCACGGTGGAGGCAAGGAAATGTGGCGTGGAGAACCCACTGGGCCTGGCTCTCCGTCCTATGGTCTCCGTCCATCGTTTTACAGTCAGGGTGTACATTTGATGAGGAATCTCTAAATGGGATTTTGGGGAATCAAAACGGAATGGTGCATAAGTGTGAAAATTTACAAGACTGCGCAAAGCTGCAAGGCCCGGAGCCCCGTGCGGCCAGGCCGCAGAGCCGGCCCCTTCCGCTTTACGTCTGACGTCACGCCGCACGCCCCAGCGAGGGCGTGCGGAGTTTGGCTGCTCCGGGGTTAGCAGGTGAGCCTGCGATGCGCGGGAAGACGTTCCGCTTTGAAATGCAGCGGGATTTGGTGAGTTTCCCGCTGTCTCCAGCGGTGCGGGTGAAGCTGGTGTCTGCGGGGTTCCAGACTGCTGAGGAACTCCTAGAGGTGAAACCCTCCGAGCTTAGCAAAGGCTAAGCTCCTGATGGCAAGCTGAGGCACACCGGCCGCCGTCAGCGCCGCCTCAGTCTTCGTTCTCTCGCCTCGGCCTTCAGCCCAGTCTCCGTTAGATTCTGCTTCCTCCCACGTCCATGTTTACAGCGTGAAAGAGCTCCTCGACTCCACTTACAAGTTGTCTGAATGGTTAGGAGAACTGTGGTCGTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCAN | pathogenic | 279,634 |
Is the genetic change at chromosome 17, position 58694926, within gene RAD51C (RAD51 paralog C) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Carcinoma_of_colon', 'Fanconi_anemia_complementation_group_O', 'Hereditary_cancer-predisposing_syndrome'] | CTCCGTTAGATTCTGCTTCCTCCCACGTCCATGTTTACAGCGTGAAAGAGCTCCTCGACTCCACTTACAAGTTGTCTGAATGGTTAGGAGAACTGTGGTCGTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTTCTGTTCAGCACTAGATGATATTCTTGGGGGTGGAGTGCCCTTAATGAAAACAACAGAAATTTGTGGTGCACCAGGTGTTGGAAAAACACAATTATGGTAAAATAAAGTGTTCTCCTTTTAAGGGTGGGTTTAATAACATATTATGAAAGTAGTATTTTGTACTATCGTCAGGAAACCAAATAAGATATATATGTGCTCTTAATTTTAAGTGTGTATGTGCATTAAACAAAAATTAGCTTACTATTTGTGTTACTTCATTATCCCTTCTTGATAAATGTATGCAATTATTCTGATGTGAAAAAGTGTTTCTTTTGCAAATTGTACTGCAGTCATAAGGTTAAACAGGAAGTTTCTGCGTTATTCATTCCTGAGACTATATTTGAAAGTCAGATGTTTGAAAGTAGATTTATGGCTAGGGGTAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGGCCTGCCTGGGCAACATAGTGAGACCTCGTCTCTACTAAAAATGGAAAATTAGCTGAGTGTGGTGGCACATGCCTGTGGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGCCGGGGAGGTCAAAACTGCAGTGAGCCTTAATCACATCACTGGGCAGCAGAGTGAGACCCTATCTCAAAAAAAAAAGAGGCCGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGTCAACATGGCGAAACCCCATCTCTACTAAAAATAAAAAAATTAGCCAGGCATGGTGGTTCACGCCTATAGTCTCAGCTCCTCGGGAGGCTGAGGCAGGAGAATCGCTTGTACTTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCTTGGGTGACAGAGCAAGACTCTGTCTCAAAAGAAAAAAAAAAAAGGTAGATTTATGTATAATAAGGGGCTCCATTTTGAGAGGCCTGGAAATGATTAAAATATTCTTAATTGGCTGGGCGCAGTGGCTGACGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAAATACAAAGAATTAGCCGGGCGTGGTGGCGGGTGCTTGTAGTCCTAGCTACTCGGGCAGCTGAGGCAGGAGAATGGCGTAAACCTGGGAGGCGGAGCTTGCAGTGAGCCTGGATCACGTCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAACATAAATAAAATAAAATAAAATATCCTTAATCTTGGTTTTATAGGCATGCCCTCCCCGAATCCAGTTGATTTACATATAGTCGATTGGTTCACATTATATCTGGAGTCATGAAGAGTTAGACATTTCTGTTGCCTTGGGGAGTATATTTACATTTATAAAACTTTAGTGATACCTAACTTGTCATTATCTGGAGTTCAAAAACACTACCTTAGATCATCATCATGATTTGGTTGTTTGTCATCTTTCTGTTGACAGTATGCAGTTGGCAGTAGATGTGCAGATACCAGAATGTTTTGGAGGAGTGGCAGGTGAAGCAGTTTTTATTGATACAGAGGGAAGTTTTATGGTTGATAGAGTGGTAGACCTTGCTACTGCCTGCATTCAGCACCTTCAGCTTATAGCAGAAAAACACAAGGGAGAGGGTAAGTTAGTAAATGATCTTCTTTTTTTCTGTATTAATAAAAGTAATTTGCATTTGTGCCCATCTGAGACCTCAGCAACACTCCATTTGGAATGTGAAGCCTAATTACTGGACA | CTCCGTTAGATTCTGCTTCCTCCCACGTCCATGTTTACAGCGTGAAAGAGCTCCTCGACTCCACTTACAAGTTGTCTGAATGGTTAGGAGAACTGTGGTCGTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTTCTGTTCAGCACTAGATGATATTCTTGGGGGTGGAGTGCCCTTAATGAAAACAACAGAAATTTGTGGTGCACCAGGTGTTGGAAAAACACAATTATGGTAAAATAAAGTGTTCTCCTTTTAAGGGTGGGTTTAATAACATATTATGAAAGTAGTATTTTGTACTATCGTCAGGAAACCAAATAAGATATATATGTGCTCTTAATTTTAAGTGTGTATGTGCATTAAACAAAAATTAGCTTACTATTTGTGTTACTTCATTATCCCTTCTTGATAAATGTATGCAATTATTCTGATGTGAAAAAGTGTTTCTTTTGCAAATTGTACTGCAGTCATAAGGTTAAACAGGAAGTTTCTGCGTTATTCATTCCTGAGACTATATTTGAAAGTCAGATGTTTGAAAGTAGATTTATGGCTAGGGGTAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGGCCTGCCTGGGCAACATAGTGAGACCTCGTCTCTACTAAAAATGGAAAATTAGCTGAGTGTGGTGGCACATGCCTGTGGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGCCGGGGAGGTCAAAACTGCAGTGAGCCTTAATCACATCACTGGGCAGCAGAGTGAGACCCTATCTCAAAAAAAAAAGAGGCCGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGTCAACATGGCGAAACCCCATCTCTACTAAAAATAAAAAAATTAGCCAGGCATGGTGGTTCACGCCTATAGTCTCAGCTCCTCGGGAGGCTGAGGCAGGAGAATCGCTTGTACTTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCTTGGGTGACAGAGCAAGACTCTGTCTCAAAAGAAAAAAAAAAAAGGTAGATTTATGTATAATAAGGGGCTCCATTTTGAGAGGCCTGGAAATGATTAAAATATTCTTAATTGGCTGGGCGCAGTGGCTGACGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAAATACAAAGAATTAGCCGGGCGTGGTGGCGGGTGCTTGTAGTCCTAGCTACTCGGGCAGCTGAGGCAGGAGAATGGCGTAAACCTGGGAGGCGGAGCTTGCAGTGAGCCTGGATCACGTCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAACATAAATAAAATAAAATAAAATATCCTTAATCTTGGTTTTATAGGCATGCCCTCCCCGAATCCAGTTGATTTACATATAGTCGATTGGTTCACATTATATCTGGAGTCATGAAGAGTTAGACATTTCTGTTGCCTTGGGGAGTATATTTACATTTATAAAACTTTAGTGATACCTAACTTGTCATTATCTGGAGTTCAAAAACACTACCTTAGATCATCATCATGATTTGGTTGTTTGTCATCTTTCTGTTGACAGTATGCAGTTGGCAGTAGATGTGCAGATACCAGAATGTTTTGGAGGAGTGGCAGGTGAAGCAGTTTTTATTGATACAGAGGGAAGTTTTATGGTTGATAGAGTGGTAGACCTTGCTACTGCCTGCATTCAGCACCTTCAGCTTATAGCAGAAAAACACAAGGGAGAGGGTAAGTTAGTAAATGATCTTCTTTTTTTCTGTATTAATAAAAGTAATTTGCATTTGTGCCCATCTGAGACCTCAGCAACACTCCATTTGGAATGTGAAGCCTAATTACTGGACANNN | pathogenic | 279,642 |
Evaluate this variant at chromosome 17, position 58694942, gene RAD51C (RAD51 paralog C): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Fanconi_anemia_complementation_group_O', 'Hereditary_cancer-predisposing_syndrome'] | TTCCTCCCACGTCCATGTTTACAGCGTGAAAGAGCTCCTCGACTCCACTTACAAGTTGTCTGAATGGTTAGGAGAACTGTGGTCGTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTTCTGTTCAGCACTAGATGATATTCTTGGGGGTGGAGTGCCCTTAATGAAAACAACAGAAATTTGTGGTGCACCAGGTGTTGGAAAAACACAATTATGGTAAAATAAAGTGTTCTCCTTTTAAGGGTGGGTTTAATAACATATTATGAAAGTAGTATTTTGTACTATCGTCAGGAAACCAAATAAGATATATATGTGCTCTTAATTTTAAGTGTGTATGTGCATTAAACAAAAATTAGCTTACTATTTGTGTTACTTCATTATCCCTTCTTGATAAATGTATGCAATTATTCTGATGTGAAAAAGTGTTTCTTTTGCAAATTGTACTGCAGTCATAAGGTTAAACAGGAAGTTTCTGCGTTATTCATTCCTGAGACTATATTTGAAAGTCAGATGTTTGAAAGTAGATTTATGGCTAGGGGTAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGGCCTGCCTGGGCAACATAGTGAGACCTCGTCTCTACTAAAAATGGAAAATTAGCTGAGTGTGGTGGCACATGCCTGTGGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGCCGGGGAGGTCAAAACTGCAGTGAGCCTTAATCACATCACTGGGCAGCAGAGTGAGACCCTATCTCAAAAAAAAAAGAGGCCGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGTCAACATGGCGAAACCCCATCTCTACTAAAAATAAAAAAATTAGCCAGGCATGGTGGTTCACGCCTATAGTCTCAGCTCCTCGGGAGGCTGAGGCAGGAGAATCGCTTGTACTTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCTTGGGTGACAGAGCAAGACTCTGTCTCAAAAGAAAAAAAAAAAAGGTAGATTTATGTATAATAAGGGGCTCCATTTTGAGAGGCCTGGAAATGATTAAAATATTCTTAATTGGCTGGGCGCAGTGGCTGACGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAAATACAAAGAATTAGCCGGGCGTGGTGGCGGGTGCTTGTAGTCCTAGCTACTCGGGCAGCTGAGGCAGGAGAATGGCGTAAACCTGGGAGGCGGAGCTTGCAGTGAGCCTGGATCACGTCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAACATAAATAAAATAAAATAAAATATCCTTAATCTTGGTTTTATAGGCATGCCCTCCCCGAATCCAGTTGATTTACATATAGTCGATTGGTTCACATTATATCTGGAGTCATGAAGAGTTAGACATTTCTGTTGCCTTGGGGAGTATATTTACATTTATAAAACTTTAGTGATACCTAACTTGTCATTATCTGGAGTTCAAAAACACTACCTTAGATCATCATCATGATTTGGTTGTTTGTCATCTTTCTGTTGACAGTATGCAGTTGGCAGTAGATGTGCAGATACCAGAATGTTTTGGAGGAGTGGCAGGTGAAGCAGTTTTTATTGATACAGAGGGAAGTTTTATGGTTGATAGAGTGGTAGACCTTGCTACTGCCTGCATTCAGCACCTTCAGCTTATAGCAGAAAAACACAAGGGAGAGGGTAAGTTAGTAAATGATCTTCTTTTTTTCTGTATTAATAAAAGTAATTTGCATTTGTGCCCATCTGAGACCTCAGCAACACTCCATTTGGAATGTGAAGCCTAATTACTGGACAGTTAACTAGTGTTAAA | TTCCTCCCACGTCCATGTTTACAGCGTGAAAGAGCTCCTCGACTCCACTTACAAGTTGTCTGAATGGTTAGGAGAACTGTGGTCGTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTTCTGTTCAGCACTAGATGATATTCTTGGGGGTGGAGTGCCCTTAATGAAAACAACAGAAATTTGTGGTGCACCAGGTGTTGGAAAAACACAATTATGGTAAAATAAAGTGTTCTCCTTTTAAGGGTGGGTTTAATAACATATTATGAAAGTAGTATTTTGTACTATCGTCAGGAAACCAAATAAGATATATATGTGCTCTTAATTTTAAGTGTGTATGTGCATTAAACAAAAATTAGCTTACTATTTGTGTTACTTCATTATCCCTTCTTGATAAATGTATGCAATTATTCTGATGTGAAAAAGTGTTTCTTTTGCAAATTGTACTGCAGTCATAAGGTTAAACAGGAAGTTTCTGCGTTATTCATTCCTGAGACTATATTTGAAAGTCAGATGTTTGAAAGTAGATTTATGGCTAGGGGTAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGGCCTGCCTGGGCAACATAGTGAGACCTCGTCTCTACTAAAAATGGAAAATTAGCTGAGTGTGGTGGCACATGCCTGTGGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGCCGGGGAGGTCAAAACTGCAGTGAGCCTTAATCACATCACTGGGCAGCAGAGTGAGACCCTATCTCAAAAAAAAAAGAGGCCGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGTCAACATGGCGAAACCCCATCTCTACTAAAAATAAAAAAATTAGCCAGGCATGGTGGTTCACGCCTATAGTCTCAGCTCCTCGGGAGGCTGAGGCAGGAGAATCGCTTGTACTTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCTTGGGTGACAGAGCAAGACTCTGTCTCAAAAGAAAAAAAAAAAAGGTAGATTTATGTATAATAAGGGGCTCCATTTTGAGAGGCCTGGAAATGATTAAAATATTCTTAATTGGCTGGGCGCAGTGGCTGACGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAAATACAAAGAATTAGCCGGGCGTGGTGGCGGGTGCTTGTAGTCCTAGCTACTCGGGCAGCTGAGGCAGGAGAATGGCGTAAACCTGGGAGGCGGAGCTTGCAGTGAGCCTGGATCACGTCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAACATAAATAAAATAAAATAAAATATCCTTAATCTTGGTTTTATAGGCATGCCCTCCCCGAATCCAGTTGATTTACATATAGTCGATTGGTTCACATTATATCTGGAGTCATGAAGAGTTAGACATTTCTGTTGCCTTGGGGAGTATATTTACATTTATAAAACTTTAGTGATACCTAACTTGTCATTATCTGGAGTTCAAAAACACTACCTTAGATCATCATCATGATTTGGTTGTTTGTCATCTTTCTGTTGACAGTATGCAGTTGGCAGTAGATGTGCAGATACCAGAATGTTTTGGAGGAGTGGCAGGTGAAGCAGTTTTTATTGATACAGAGGGAAGTTTTATGGTTGATAGAGTGGTAGACCTTGCTACTGCCTGCATTCAGCACCTTCAGCTTATAGCAGAAAAACACAAGGGAGAGGGTAAGTTAGTAAATGATCTTCTTTTTTTCTGTATTAATAAAAGTAATTTGCATTTGTGCCCATCTGAGACCTCAGCAACACTCCATTTGGAATGTGAAGCCTAATTACTGGACAGTTAACTAGTGTTAAAN | pathogenic | 279,644 |
Is the genetic change at chromosome 17, position 58694943, within gene RAD51C (RAD51 paralog C) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Fanconi_anemia_complementation_group_O', 'Hereditary_cancer-predisposing_syndrome', 'RAD51C-related_disorder'] | TCCTCCCACGTCCATGTTTACAGCGTGAAAGAGCTCCTCGACTCCACTTACAAGTTGTCTGAATGGTTAGGAGAACTGTGGTCGTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTTCTGTTCAGCACTAGATGATATTCTTGGGGGTGGAGTGCCCTTAATGAAAACAACAGAAATTTGTGGTGCACCAGGTGTTGGAAAAACACAATTATGGTAAAATAAAGTGTTCTCCTTTTAAGGGTGGGTTTAATAACATATTATGAAAGTAGTATTTTGTACTATCGTCAGGAAACCAAATAAGATATATATGTGCTCTTAATTTTAAGTGTGTATGTGCATTAAACAAAAATTAGCTTACTATTTGTGTTACTTCATTATCCCTTCTTGATAAATGTATGCAATTATTCTGATGTGAAAAAGTGTTTCTTTTGCAAATTGTACTGCAGTCATAAGGTTAAACAGGAAGTTTCTGCGTTATTCATTCCTGAGACTATATTTGAAAGTCAGATGTTTGAAAGTAGATTTATGGCTAGGGGTAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGGCCTGCCTGGGCAACATAGTGAGACCTCGTCTCTACTAAAAATGGAAAATTAGCTGAGTGTGGTGGCACATGCCTGTGGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGCCGGGGAGGTCAAAACTGCAGTGAGCCTTAATCACATCACTGGGCAGCAGAGTGAGACCCTATCTCAAAAAAAAAAGAGGCCGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGTCAACATGGCGAAACCCCATCTCTACTAAAAATAAAAAAATTAGCCAGGCATGGTGGTTCACGCCTATAGTCTCAGCTCCTCGGGAGGCTGAGGCAGGAGAATCGCTTGTACTTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCTTGGGTGACAGAGCAAGACTCTGTCTCAAAAGAAAAAAAAAAAAGGTAGATTTATGTATAATAAGGGGCTCCATTTTGAGAGGCCTGGAAATGATTAAAATATTCTTAATTGGCTGGGCGCAGTGGCTGACGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAAATACAAAGAATTAGCCGGGCGTGGTGGCGGGTGCTTGTAGTCCTAGCTACTCGGGCAGCTGAGGCAGGAGAATGGCGTAAACCTGGGAGGCGGAGCTTGCAGTGAGCCTGGATCACGTCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAACATAAATAAAATAAAATAAAATATCCTTAATCTTGGTTTTATAGGCATGCCCTCCCCGAATCCAGTTGATTTACATATAGTCGATTGGTTCACATTATATCTGGAGTCATGAAGAGTTAGACATTTCTGTTGCCTTGGGGAGTATATTTACATTTATAAAACTTTAGTGATACCTAACTTGTCATTATCTGGAGTTCAAAAACACTACCTTAGATCATCATCATGATTTGGTTGTTTGTCATCTTTCTGTTGACAGTATGCAGTTGGCAGTAGATGTGCAGATACCAGAATGTTTTGGAGGAGTGGCAGGTGAAGCAGTTTTTATTGATACAGAGGGAAGTTTTATGGTTGATAGAGTGGTAGACCTTGCTACTGCCTGCATTCAGCACCTTCAGCTTATAGCAGAAAAACACAAGGGAGAGGGTAAGTTAGTAAATGATCTTCTTTTTTTCTGTATTAATAAAAGTAATTTGCATTTGTGCCCATCTGAGACCTCAGCAACACTCCATTTGGAATGTGAAGCCTAATTACTGGACAGTTAACTAGTGTTAAAC | TCCTCCCACGTCCATGTTTACAGCGTGAAAGAGCTCCTCGACTCCACTTACAAGTTGTCTGAATGGTTAGGAGAACTGTGGTCGTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATTTAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTTCTGTTCAGCACTAGATGATATTCTTGGGGGTGGAGTGCCCTTAATGAAAACAACAGAAATTTGTGGTGCACCAGGTGTTGGAAAAACACAATTATGGTAAAATAAAGTGTTCTCCTTTTAAGGGTGGGTTTAATAACATATTATGAAAGTAGTATTTTGTACTATCGTCAGGAAACCAAATAAGATATATATGTGCTCTTAATTTTAAGTGTGTATGTGCATTAAACAAAAATTAGCTTACTATTTGTGTTACTTCATTATCCCTTCTTGATAAATGTATGCAATTATTCTGATGTGAAAAAGTGTTTCTTTTGCAAATTGTACTGCAGTCATAAGGTTAAACAGGAAGTTTCTGCGTTATTCATTCCTGAGACTATATTTGAAAGTCAGATGTTTGAAAGTAGATTTATGGCTAGGGGTAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGGCCTGCCTGGGCAACATAGTGAGACCTCGTCTCTACTAAAAATGGAAAATTAGCTGAGTGTGGTGGCACATGCCTGTGGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGCCGGGGAGGTCAAAACTGCAGTGAGCCTTAATCACATCACTGGGCAGCAGAGTGAGACCCTATCTCAAAAAAAAAAGAGGCCGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGTCAACATGGCGAAACCCCATCTCTACTAAAAATAAAAAAATTAGCCAGGCATGGTGGTTCACGCCTATAGTCTCAGCTCCTCGGGAGGCTGAGGCAGGAGAATCGCTTGTACTTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCTTGGGTGACAGAGCAAGACTCTGTCTCAAAAGAAAAAAAAAAAAGGTAGATTTATGTATAATAAGGGGCTCCATTTTGAGAGGCCTGGAAATGATTAAAATATTCTTAATTGGCTGGGCGCAGTGGCTGACGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAAATACAAAGAATTAGCCGGGCGTGGTGGCGGGTGCTTGTAGTCCTAGCTACTCGGGCAGCTGAGGCAGGAGAATGGCGTAAACCTGGGAGGCGGAGCTTGCAGTGAGCCTGGATCACGTCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAACATAAATAAAATAAAATAAAATATCCTTAATCTTGGTTTTATAGGCATGCCCTCCCCGAATCCAGTTGATTTACATATAGTCGATTGGTTCACATTATATCTGGAGTCATGAAGAGTTAGACATTTCTGTTGCCTTGGGGAGTATATTTACATTTATAAAACTTTAGTGATACCTAACTTGTCATTATCTGGAGTTCAAAAACACTACCTTAGATCATCATCATGATTTGGTTGTTTGTCATCTTTCTGTTGACAGTATGCAGTTGGCAGTAGATGTGCAGATACCAGAATGTTTTGGAGGAGTGGCAGGTGAAGCAGTTTTTATTGATACAGAGGGAAGTTTTATGGTTGATAGAGTGGTAGACCTTGCTACTGCCTGCATTCAGCACCTTCAGCTTATAGCAGAAAAACACAAGGGAGAGGGTAAGTTAGTAAATGATCTTCTTTTTTTCTGTATTAATAAAAGTAATTTGCATTTGTGCCCATCTGAGACCTCAGCAACACTCCATTTGGAATGTGAAGCCTAATTACTGGACAGTTAACTAGTGTTAAACN | pathogenic | 279,645 |
Is the variant located on chromosome 17 at position 58694951, gene RAD51C (RAD51 paralog C), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Fanconi_anemia_complementation_group_O'] | CGTCCATGTTTACAGCGTGAAAGAGCTCCTCGACTCCACTTACAAGTTGTCTGAATGGTTAGGAGAACTGTGGTCGTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTTCTGTTCAGCACTAGATGATATTCTTGGGGGTGGAGTGCCCTTAATGAAAACAACAGAAATTTGTGGTGCACCAGGTGTTGGAAAAACACAATTATGGTAAAATAAAGTGTTCTCCTTTTAAGGGTGGGTTTAATAACATATTATGAAAGTAGTATTTTGTACTATCGTCAGGAAACCAAATAAGATATATATGTGCTCTTAATTTTAAGTGTGTATGTGCATTAAACAAAAATTAGCTTACTATTTGTGTTACTTCATTATCCCTTCTTGATAAATGTATGCAATTATTCTGATGTGAAAAAGTGTTTCTTTTGCAAATTGTACTGCAGTCATAAGGTTAAACAGGAAGTTTCTGCGTTATTCATTCCTGAGACTATATTTGAAAGTCAGATGTTTGAAAGTAGATTTATGGCTAGGGGTAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGGCCTGCCTGGGCAACATAGTGAGACCTCGTCTCTACTAAAAATGGAAAATTAGCTGAGTGTGGTGGCACATGCCTGTGGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGCCGGGGAGGTCAAAACTGCAGTGAGCCTTAATCACATCACTGGGCAGCAGAGTGAGACCCTATCTCAAAAAAAAAAGAGGCCGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGTCAACATGGCGAAACCCCATCTCTACTAAAAATAAAAAAATTAGCCAGGCATGGTGGTTCACGCCTATAGTCTCAGCTCCTCGGGAGGCTGAGGCAGGAGAATCGCTTGTACTTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCTTGGGTGACAGAGCAAGACTCTGTCTCAAAAGAAAAAAAAAAAAGGTAGATTTATGTATAATAAGGGGCTCCATTTTGAGAGGCCTGGAAATGATTAAAATATTCTTAATTGGCTGGGCGCAGTGGCTGACGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAAATACAAAGAATTAGCCGGGCGTGGTGGCGGGTGCTTGTAGTCCTAGCTACTCGGGCAGCTGAGGCAGGAGAATGGCGTAAACCTGGGAGGCGGAGCTTGCAGTGAGCCTGGATCACGTCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAACATAAATAAAATAAAATAAAATATCCTTAATCTTGGTTTTATAGGCATGCCCTCCCCGAATCCAGTTGATTTACATATAGTCGATTGGTTCACATTATATCTGGAGTCATGAAGAGTTAGACATTTCTGTTGCCTTGGGGAGTATATTTACATTTATAAAACTTTAGTGATACCTAACTTGTCATTATCTGGAGTTCAAAAACACTACCTTAGATCATCATCATGATTTGGTTGTTTGTCATCTTTCTGTTGACAGTATGCAGTTGGCAGTAGATGTGCAGATACCAGAATGTTTTGGAGGAGTGGCAGGTGAAGCAGTTTTTATTGATACAGAGGGAAGTTTTATGGTTGATAGAGTGGTAGACCTTGCTACTGCCTGCATTCAGCACCTTCAGCTTATAGCAGAAAAACACAAGGGAGAGGGTAAGTTAGTAAATGATCTTCTTTTTTTCTGTATTAATAAAAGTAATTTGCATTTGTGCCCATCTGAGACCTCAGCAACACTCCATTTGGAATGTGAAGCCTAATTACTGGACAGTTAACTAGTGTTAAACTCTTTTAC | CGTCCATGTTTACAGCGTGAAAGAGCTCCTCGACTCCACTTACAAGTTGTCTGAATGGTTAGGAGAACTGTGGTCGTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTTCTGTTCAGCACTAGATGATATTCTTGGGGGTGGAGTGCCCTTAATGAAAACAACAGAAATTTGTGGTGCACCAGGTGTTGGAAAAACACAATTATGGTAAAATAAAGTGTTCTCCTTTTAAGGGTGGGTTTAATAACATATTATGAAAGTAGTATTTTGTACTATCGTCAGGAAACCAAATAAGATATATATGTGCTCTTAATTTTAAGTGTGTATGTGCATTAAACAAAAATTAGCTTACTATTTGTGTTACTTCATTATCCCTTCTTGATAAATGTATGCAATTATTCTGATGTGAAAAAGTGTTTCTTTTGCAAATTGTACTGCAGTCATAAGGTTAAACAGGAAGTTTCTGCGTTATTCATTCCTGAGACTATATTTGAAAGTCAGATGTTTGAAAGTAGATTTATGGCTAGGGGTAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGGCCTGCCTGGGCAACATAGTGAGACCTCGTCTCTACTAAAAATGGAAAATTAGCTGAGTGTGGTGGCACATGCCTGTGGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGCCGGGGAGGTCAAAACTGCAGTGAGCCTTAATCACATCACTGGGCAGCAGAGTGAGACCCTATCTCAAAAAAAAAAGAGGCCGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGTCAACATGGCGAAACCCCATCTCTACTAAAAATAAAAAAATTAGCCAGGCATGGTGGTTCACGCCTATAGTCTCAGCTCCTCGGGAGGCTGAGGCAGGAGAATCGCTTGTACTTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCTTGGGTGACAGAGCAAGACTCTGTCTCAAAAGAAAAAAAAAAAAGGTAGATTTATGTATAATAAGGGGCTCCATTTTGAGAGGCCTGGAAATGATTAAAATATTCTTAATTGGCTGGGCGCAGTGGCTGACGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAAATACAAAGAATTAGCCGGGCGTGGTGGCGGGTGCTTGTAGTCCTAGCTACTCGGGCAGCTGAGGCAGGAGAATGGCGTAAACCTGGGAGGCGGAGCTTGCAGTGAGCCTGGATCACGTCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAACATAAATAAAATAAAATAAAATATCCTTAATCTTGGTTTTATAGGCATGCCCTCCCCGAATCCAGTTGATTTACATATAGTCGATTGGTTCACATTATATCTGGAGTCATGAAGAGTTAGACATTTCTGTTGCCTTGGGGAGTATATTTACATTTATAAAACTTTAGTGATACCTAACTTGTCATTATCTGGAGTTCAAAAACACTACCTTAGATCATCATCATGATTTGGTTGTTTGTCATCTTTCTGTTGACAGTATGCAGTTGGCAGTAGATGTGCAGATACCAGAATGTTTTGGAGGAGTGGCAGGTGAAGCAGTTTTTATTGATACAGAGGGAAGTTTTATGGTTGATAGAGTGGTAGACCTTGCTACTGCCTGCATTCAGCACCTTCAGCTTATAGCAGAAAAACACAAGGGAGAGGGTAAGTTAGTAAATGATCTTCTTTTTTTCTGTATTAATAAAAGTAATTTGCATTTGTGCCCATCTGAGACCTCAGCAACACTCCATTTGGAATGTGAAGCCTAATTACTGGACAGTTAACTAGTGTTAAACTCTTTTACN | pathogenic | 279,647 |
Is the variant located on chromosome 17 at position 58694963, gene RAD51C (RAD51 paralog C), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Fanconi_anemia_complementation_group_O', 'Hereditary_cancer-predisposing_syndrome', 'RAD51C-related_disorder'] | CAGCGTGAAAGAGCTCCTCGACTCCACTTACAAGTTGTCTGAATGGTTAGGAGAACTGTGGTCGTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTTCTGTTCAGCACTAGATGATATTCTTGGGGGTGGAGTGCCCTTAATGAAAACAACAGAAATTTGTGGTGCACCAGGTGTTGGAAAAACACAATTATGGTAAAATAAAGTGTTCTCCTTTTAAGGGTGGGTTTAATAACATATTATGAAAGTAGTATTTTGTACTATCGTCAGGAAACCAAATAAGATATATATGTGCTCTTAATTTTAAGTGTGTATGTGCATTAAACAAAAATTAGCTTACTATTTGTGTTACTTCATTATCCCTTCTTGATAAATGTATGCAATTATTCTGATGTGAAAAAGTGTTTCTTTTGCAAATTGTACTGCAGTCATAAGGTTAAACAGGAAGTTTCTGCGTTATTCATTCCTGAGACTATATTTGAAAGTCAGATGTTTGAAAGTAGATTTATGGCTAGGGGTAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGGCCTGCCTGGGCAACATAGTGAGACCTCGTCTCTACTAAAAATGGAAAATTAGCTGAGTGTGGTGGCACATGCCTGTGGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGCCGGGGAGGTCAAAACTGCAGTGAGCCTTAATCACATCACTGGGCAGCAGAGTGAGACCCTATCTCAAAAAAAAAAGAGGCCGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGTCAACATGGCGAAACCCCATCTCTACTAAAAATAAAAAAATTAGCCAGGCATGGTGGTTCACGCCTATAGTCTCAGCTCCTCGGGAGGCTGAGGCAGGAGAATCGCTTGTACTTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCTTGGGTGACAGAGCAAGACTCTGTCTCAAAAGAAAAAAAAAAAAGGTAGATTTATGTATAATAAGGGGCTCCATTTTGAGAGGCCTGGAAATGATTAAAATATTCTTAATTGGCTGGGCGCAGTGGCTGACGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAAATACAAAGAATTAGCCGGGCGTGGTGGCGGGTGCTTGTAGTCCTAGCTACTCGGGCAGCTGAGGCAGGAGAATGGCGTAAACCTGGGAGGCGGAGCTTGCAGTGAGCCTGGATCACGTCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAACATAAATAAAATAAAATAAAATATCCTTAATCTTGGTTTTATAGGCATGCCCTCCCCGAATCCAGTTGATTTACATATAGTCGATTGGTTCACATTATATCTGGAGTCATGAAGAGTTAGACATTTCTGTTGCCTTGGGGAGTATATTTACATTTATAAAACTTTAGTGATACCTAACTTGTCATTATCTGGAGTTCAAAAACACTACCTTAGATCATCATCATGATTTGGTTGTTTGTCATCTTTCTGTTGACAGTATGCAGTTGGCAGTAGATGTGCAGATACCAGAATGTTTTGGAGGAGTGGCAGGTGAAGCAGTTTTTATTGATACAGAGGGAAGTTTTATGGTTGATAGAGTGGTAGACCTTGCTACTGCCTGCATTCAGCACCTTCAGCTTATAGCAGAAAAACACAAGGGAGAGGGTAAGTTAGTAAATGATCTTCTTTTTTTCTGTATTAATAAAAGTAATTTGCATTTGTGCCCATCTGAGACCTCAGCAACACTCCATTTGGAATGTGAAGCCTAATTACTGGACAGTTAACTAGTGTTAAACTCTTTTACTACTGTTACAAA | CAGCGTGAAAGAGCTCCTCGACTCCACTTACAAGTTGTCTGAATGGTTAGGAGAACTGTGGTCGTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTTCTGTTCAGCACTAGATGATATTCTTGGGGGTGGAGTGCCCTTAATGAAAACAACAGAAATTTGTGGTGCACCAGGTGTTGGAAAAACACAATTATGGTAAAATAAAGTGTTCTCCTTTTAAGGGTGGGTTTAATAACATATTATGAAAGTAGTATTTTGTACTATCGTCAGGAAACCAAATAAGATATATATGTGCTCTTAATTTTAAGTGTGTATGTGCATTAAACAAAAATTAGCTTACTATTTGTGTTACTTCATTATCCCTTCTTGATAAATGTATGCAATTATTCTGATGTGAAAAAGTGTTTCTTTTGCAAATTGTACTGCAGTCATAAGGTTAAACAGGAAGTTTCTGCGTTATTCATTCCTGAGACTATATTTGAAAGTCAGATGTTTGAAAGTAGATTTATGGCTAGGGGTAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGGCCTGCCTGGGCAACATAGTGAGACCTCGTCTCTACTAAAAATGGAAAATTAGCTGAGTGTGGTGGCACATGCCTGTGGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGCCGGGGAGGTCAAAACTGCAGTGAGCCTTAATCACATCACTGGGCAGCAGAGTGAGACCCTATCTCAAAAAAAAAAGAGGCCGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGTCAACATGGCGAAACCCCATCTCTACTAAAAATAAAAAAATTAGCCAGGCATGGTGGTTCACGCCTATAGTCTCAGCTCCTCGGGAGGCTGAGGCAGGAGAATCGCTTGTACTTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCTTGGGTGACAGAGCAAGACTCTGTCTCAAAAGAAAAAAAAAAAAGGTAGATTTATGTATAATAAGGGGCTCCATTTTGAGAGGCCTGGAAATGATTAAAATATTCTTAATTGGCTGGGCGCAGTGGCTGACGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAAATACAAAGAATTAGCCGGGCGTGGTGGCGGGTGCTTGTAGTCCTAGCTACTCGGGCAGCTGAGGCAGGAGAATGGCGTAAACCTGGGAGGCGGAGCTTGCAGTGAGCCTGGATCACGTCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAACATAAATAAAATAAAATAAAATATCCTTAATCTTGGTTTTATAGGCATGCCCTCCCCGAATCCAGTTGATTTACATATAGTCGATTGGTTCACATTATATCTGGAGTCATGAAGAGTTAGACATTTCTGTTGCCTTGGGGAGTATATTTACATTTATAAAACTTTAGTGATACCTAACTTGTCATTATCTGGAGTTCAAAAACACTACCTTAGATCATCATCATGATTTGGTTGTTTGTCATCTTTCTGTTGACAGTATGCAGTTGGCAGTAGATGTGCAGATACCAGAATGTTTTGGAGGAGTGGCAGGTGAAGCAGTTTTTATTGATACAGAGGGAAGTTTTATGGTTGATAGAGTGGTAGACCTTGCTACTGCCTGCATTCAGCACCTTCAGCTTATAGCAGAAAAACACAAGGGAGAGGGTAAGTTAGTAAATGATCTTCTTTTTTTCTGTATTAATAAAAGTAATTTGCATTTGTGCCCATCTGAGACCTCAGCAACACTCCATTTGGAATGTGAAGCCTAATTACTGGACAGTTAACTAGTGTTAAACTCTTTTACTACTGTTACAAANN | pathogenic | 279,648 |
Is the genetic change at chromosome 17, position 58694969, within gene RAD51C (RAD51 paralog C) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Fanconi_anemia_complementation_group_O', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'RAD51C-related_disorder'] | GAAAGAGCTCCTCGACTCCACTTACAAGTTGTCTGAATGGTTAGGAGAACTGTGGTCGTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTTCTGTTCAGCACTAGATGATATTCTTGGGGGTGGAGTGCCCTTAATGAAAACAACAGAAATTTGTGGTGCACCAGGTGTTGGAAAAACACAATTATGGTAAAATAAAGTGTTCTCCTTTTAAGGGTGGGTTTAATAACATATTATGAAAGTAGTATTTTGTACTATCGTCAGGAAACCAAATAAGATATATATGTGCTCTTAATTTTAAGTGTGTATGTGCATTAAACAAAAATTAGCTTACTATTTGTGTTACTTCATTATCCCTTCTTGATAAATGTATGCAATTATTCTGATGTGAAAAAGTGTTTCTTTTGCAAATTGTACTGCAGTCATAAGGTTAAACAGGAAGTTTCTGCGTTATTCATTCCTGAGACTATATTTGAAAGTCAGATGTTTGAAAGTAGATTTATGGCTAGGGGTAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGGCCTGCCTGGGCAACATAGTGAGACCTCGTCTCTACTAAAAATGGAAAATTAGCTGAGTGTGGTGGCACATGCCTGTGGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGCCGGGGAGGTCAAAACTGCAGTGAGCCTTAATCACATCACTGGGCAGCAGAGTGAGACCCTATCTCAAAAAAAAAAGAGGCCGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGTCAACATGGCGAAACCCCATCTCTACTAAAAATAAAAAAATTAGCCAGGCATGGTGGTTCACGCCTATAGTCTCAGCTCCTCGGGAGGCTGAGGCAGGAGAATCGCTTGTACTTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCTTGGGTGACAGAGCAAGACTCTGTCTCAAAAGAAAAAAAAAAAAGGTAGATTTATGTATAATAAGGGGCTCCATTTTGAGAGGCCTGGAAATGATTAAAATATTCTTAATTGGCTGGGCGCAGTGGCTGACGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAAATACAAAGAATTAGCCGGGCGTGGTGGCGGGTGCTTGTAGTCCTAGCTACTCGGGCAGCTGAGGCAGGAGAATGGCGTAAACCTGGGAGGCGGAGCTTGCAGTGAGCCTGGATCACGTCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAACATAAATAAAATAAAATAAAATATCCTTAATCTTGGTTTTATAGGCATGCCCTCCCCGAATCCAGTTGATTTACATATAGTCGATTGGTTCACATTATATCTGGAGTCATGAAGAGTTAGACATTTCTGTTGCCTTGGGGAGTATATTTACATTTATAAAACTTTAGTGATACCTAACTTGTCATTATCTGGAGTTCAAAAACACTACCTTAGATCATCATCATGATTTGGTTGTTTGTCATCTTTCTGTTGACAGTATGCAGTTGGCAGTAGATGTGCAGATACCAGAATGTTTTGGAGGAGTGGCAGGTGAAGCAGTTTTTATTGATACAGAGGGAAGTTTTATGGTTGATAGAGTGGTAGACCTTGCTACTGCCTGCATTCAGCACCTTCAGCTTATAGCAGAAAAACACAAGGGAGAGGGTAAGTTAGTAAATGATCTTCTTTTTTTCTGTATTAATAAAAGTAATTTGCATTTGTGCCCATCTGAGACCTCAGCAACACTCCATTTGGAATGTGAAGCCTAATTACTGGACAGTTAACTAGTGTTAAACTCTTTTACTACTGTTACAAAATGAGA | GAAAGAGCTCCTCGACTCCACTTACAAGTTGTCTGAATGGTTAGGAGAACTGTGGTCGTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTTCTGTTCAGCACTAGATGATATTCTTGGGGGTGGAGTGCCCTTAATGAAAACAACAGAAATTTGTGGTGCACCAGGTGTTGGAAAAACACAATTATGGTAAAATAAAGTGTTCTCCTTTTAAGGGTGGGTTTAATAACATATTATGAAAGTAGTATTTTGTACTATCGTCAGGAAACCAAATAAGATATATATGTGCTCTTAATTTTAAGTGTGTATGTGCATTAAACAAAAATTAGCTTACTATTTGTGTTACTTCATTATCCCTTCTTGATAAATGTATGCAATTATTCTGATGTGAAAAAGTGTTTCTTTTGCAAATTGTACTGCAGTCATAAGGTTAAACAGGAAGTTTCTGCGTTATTCATTCCTGAGACTATATTTGAAAGTCAGATGTTTGAAAGTAGATTTATGGCTAGGGGTAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGGCCTGCCTGGGCAACATAGTGAGACCTCGTCTCTACTAAAAATGGAAAATTAGCTGAGTGTGGTGGCACATGCCTGTGGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGCCGGGGAGGTCAAAACTGCAGTGAGCCTTAATCACATCACTGGGCAGCAGAGTGAGACCCTATCTCAAAAAAAAAAGAGGCCGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGTCAACATGGCGAAACCCCATCTCTACTAAAAATAAAAAAATTAGCCAGGCATGGTGGTTCACGCCTATAGTCTCAGCTCCTCGGGAGGCTGAGGCAGGAGAATCGCTTGTACTTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCTTGGGTGACAGAGCAAGACTCTGTCTCAAAAGAAAAAAAAAAAAGGTAGATTTATGTATAATAAGGGGCTCCATTTTGAGAGGCCTGGAAATGATTAAAATATTCTTAATTGGCTGGGCGCAGTGGCTGACGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAAATACAAAGAATTAGCCGGGCGTGGTGGCGGGTGCTTGTAGTCCTAGCTACTCGGGCAGCTGAGGCAGGAGAATGGCGTAAACCTGGGAGGCGGAGCTTGCAGTGAGCCTGGATCACGTCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAACATAAATAAAATAAAATAAAATATCCTTAATCTTGGTTTTATAGGCATGCCCTCCCCGAATCCAGTTGATTTACATATAGTCGATTGGTTCACATTATATCTGGAGTCATGAAGAGTTAGACATTTCTGTTGCCTTGGGGAGTATATTTACATTTATAAAACTTTAGTGATACCTAACTTGTCATTATCTGGAGTTCAAAAACACTACCTTAGATCATCATCATGATTTGGTTGTTTGTCATCTTTCTGTTGACAGTATGCAGTTGGCAGTAGATGTGCAGATACCAGAATGTTTTGGAGGAGTGGCAGGTGAAGCAGTTTTTATTGATACAGAGGGAAGTTTTATGGTTGATAGAGTGGTAGACCTTGCTACTGCCTGCATTCAGCACCTTCAGCTTATAGCAGAAAAACACAAGGGAGAGGGTAAGTTAGTAAATGATCTTCTTTTTTTCTGTATTAATAAAAGTAATTTGCATTTGTGCCCATCTGAGACCTCAGCAACACTCCATTTGGAATGTGAAGCCTAATTACTGGACAGTTAACTAGTGTTAAACTCTTTTACTACTGTTACAAAATGAGANN | pathogenic | 279,649 |
Regarding the variant found on chromosome 17 at position 58694998 in gene RAD51C (RAD51 paralog C): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Fanconi_anemia_complementation_group_O', 'Hereditary_cancer-predisposing_syndrome'] | TGTCTGAATGGTTAGGAGAACTGTGGTCGTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTTCTGTTCAGCACTAGATGATATTCTTGGGGGTGGAGTGCCCTTAATGAAAACAACAGAAATTTGTGGTGCACCAGGTGTTGGAAAAACACAATTATGGTAAAATAAAGTGTTCTCCTTTTAAGGGTGGGTTTAATAACATATTATGAAAGTAGTATTTTGTACTATCGTCAGGAAACCAAATAAGATATATATGTGCTCTTAATTTTAAGTGTGTATGTGCATTAAACAAAAATTAGCTTACTATTTGTGTTACTTCATTATCCCTTCTTGATAAATGTATGCAATTATTCTGATGTGAAAAAGTGTTTCTTTTGCAAATTGTACTGCAGTCATAAGGTTAAACAGGAAGTTTCTGCGTTATTCATTCCTGAGACTATATTTGAAAGTCAGATGTTTGAAAGTAGATTTATGGCTAGGGGTAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGGCCTGCCTGGGCAACATAGTGAGACCTCGTCTCTACTAAAAATGGAAAATTAGCTGAGTGTGGTGGCACATGCCTGTGGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGCCGGGGAGGTCAAAACTGCAGTGAGCCTTAATCACATCACTGGGCAGCAGAGTGAGACCCTATCTCAAAAAAAAAAGAGGCCGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGTCAACATGGCGAAACCCCATCTCTACTAAAAATAAAAAAATTAGCCAGGCATGGTGGTTCACGCCTATAGTCTCAGCTCCTCGGGAGGCTGAGGCAGGAGAATCGCTTGTACTTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCTTGGGTGACAGAGCAAGACTCTGTCTCAAAAGAAAAAAAAAAAAGGTAGATTTATGTATAATAAGGGGCTCCATTTTGAGAGGCCTGGAAATGATTAAAATATTCTTAATTGGCTGGGCGCAGTGGCTGACGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAAATACAAAGAATTAGCCGGGCGTGGTGGCGGGTGCTTGTAGTCCTAGCTACTCGGGCAGCTGAGGCAGGAGAATGGCGTAAACCTGGGAGGCGGAGCTTGCAGTGAGCCTGGATCACGTCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAACATAAATAAAATAAAATAAAATATCCTTAATCTTGGTTTTATAGGCATGCCCTCCCCGAATCCAGTTGATTTACATATAGTCGATTGGTTCACATTATATCTGGAGTCATGAAGAGTTAGACATTTCTGTTGCCTTGGGGAGTATATTTACATTTATAAAACTTTAGTGATACCTAACTTGTCATTATCTGGAGTTCAAAAACACTACCTTAGATCATCATCATGATTTGGTTGTTTGTCATCTTTCTGTTGACAGTATGCAGTTGGCAGTAGATGTGCAGATACCAGAATGTTTTGGAGGAGTGGCAGGTGAAGCAGTTTTTATTGATACAGAGGGAAGTTTTATGGTTGATAGAGTGGTAGACCTTGCTACTGCCTGCATTCAGCACCTTCAGCTTATAGCAGAAAAACACAAGGGAGAGGGTAAGTTAGTAAATGATCTTCTTTTTTTCTGTATTAATAAAAGTAATTTGCATTTGTGCCCATCTGAGACCTCAGCAACACTCCATTTGGAATGTGAAGCCTAATTACTGGACAGTTAACTAGTGTTAAACTCTTTTACTACTGTTACAAAATGAGAAATGCCACAGCCTGGACTGGCTTTTTTTT | TGTCTGAATGGTTAGGAGAACTGTGGTCGTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTTCTGTTCAGCACTAGATGATATTCTTGGGGGTGGAGTGCCCTTAATGAAAACAACAGAAATTTGTGGTGCACCAGGTGTTGGAAAAACACAATTATGGTAAAATAAAGTGTTCTCCTTTTAAGGGTGGGTTTAATAACATATTATGAAAGTAGTATTTTGTACTATCGTCAGGAAACCAAATAAGATATATATGTGCTCTTAATTTTAAGTGTGTATGTGCATTAAACAAAAATTAGCTTACTATTTGTGTTACTTCATTATCCCTTCTTGATAAATGTATGCAATTATTCTGATGTGAAAAAGTGTTTCTTTTGCAAATTGTACTGCAGTCATAAGGTTAAACAGGAAGTTTCTGCGTTATTCATTCCTGAGACTATATTTGAAAGTCAGATGTTTGAAAGTAGATTTATGGCTAGGGGTAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGGCCTGCCTGGGCAACATAGTGAGACCTCGTCTCTACTAAAAATGGAAAATTAGCTGAGTGTGGTGGCACATGCCTGTGGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGCCGGGGAGGTCAAAACTGCAGTGAGCCTTAATCACATCACTGGGCAGCAGAGTGAGACCCTATCTCAAAAAAAAAAGAGGCCGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGTCAACATGGCGAAACCCCATCTCTACTAAAAATAAAAAAATTAGCCAGGCATGGTGGTTCACGCCTATAGTCTCAGCTCCTCGGGAGGCTGAGGCAGGAGAATCGCTTGTACTTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCTTGGGTGACAGAGCAAGACTCTGTCTCAAAAGAAAAAAAAAAAAGGTAGATTTATGTATAATAAGGGGCTCCATTTTGAGAGGCCTGGAAATGATTAAAATATTCTTAATTGGCTGGGCGCAGTGGCTGACGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAAATACAAAGAATTAGCCGGGCGTGGTGGCGGGTGCTTGTAGTCCTAGCTACTCGGGCAGCTGAGGCAGGAGAATGGCGTAAACCTGGGAGGCGGAGCTTGCAGTGAGCCTGGATCACGTCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAACATAAATAAAATAAAATAAAATATCCTTAATCTTGGTTTTATAGGCATGCCCTCCCCGAATCCAGTTGATTTACATATAGTCGATTGGTTCACATTATATCTGGAGTCATGAAGAGTTAGACATTTCTGTTGCCTTGGGGAGTATATTTACATTTATAAAACTTTAGTGATACCTAACTTGTCATTATCTGGAGTTCAAAAACACTACCTTAGATCATCATCATGATTTGGTTGTTTGTCATCTTTCTGTTGACAGTATGCAGTTGGCAGTAGATGTGCAGATACCAGAATGTTTTGGAGGAGTGGCAGGTGAAGCAGTTTTTATTGATACAGAGGGAAGTTTTATGGTTGATAGAGTGGTAGACCTTGCTACTGCCTGCATTCAGCACCTTCAGCTTATAGCAGAAAAACACAAGGGAGAGGGTAAGTTAGTAAATGATCTTCTTTTTTTCTGTATTAATAAAAGTAATTTGCATTTGTGCCCATCTGAGACCTCAGCAACACTCCATTTGGAATGTGAAGCCTAATTACTGGACAGTTAACTAGTGTTAAACTCTTTTACTACTGTTACAAAATGAGAAATGCCACAGCCTGGACTGGCTTTTTTTTNNNNN | pathogenic | 279,660 |
Variant at chromosome 17, position 58695006, gene RAD51C (RAD51 paralog C): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Fanconi_anemia_complementation_group_O', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'RAD51C-related_disorder'] | TGGTTAGGAGAACTGTGGTCGTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTTCTGTTCAGCACTAGATGATATTCTTGGGGGTGGAGTGCCCTTAATGAAAACAACAGAAATTTGTGGTGCACCAGGTGTTGGAAAAACACAATTATGGTAAAATAAAGTGTTCTCCTTTTAAGGGTGGGTTTAATAACATATTATGAAAGTAGTATTTTGTACTATCGTCAGGAAACCAAATAAGATATATATGTGCTCTTAATTTTAAGTGTGTATGTGCATTAAACAAAAATTAGCTTACTATTTGTGTTACTTCATTATCCCTTCTTGATAAATGTATGCAATTATTCTGATGTGAAAAAGTGTTTCTTTTGCAAATTGTACTGCAGTCATAAGGTTAAACAGGAAGTTTCTGCGTTATTCATTCCTGAGACTATATTTGAAAGTCAGATGTTTGAAAGTAGATTTATGGCTAGGGGTAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGGCCTGCCTGGGCAACATAGTGAGACCTCGTCTCTACTAAAAATGGAAAATTAGCTGAGTGTGGTGGCACATGCCTGTGGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGCCGGGGAGGTCAAAACTGCAGTGAGCCTTAATCACATCACTGGGCAGCAGAGTGAGACCCTATCTCAAAAAAAAAAGAGGCCGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGTCAACATGGCGAAACCCCATCTCTACTAAAAATAAAAAAATTAGCCAGGCATGGTGGTTCACGCCTATAGTCTCAGCTCCTCGGGAGGCTGAGGCAGGAGAATCGCTTGTACTTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCTTGGGTGACAGAGCAAGACTCTGTCTCAAAAGAAAAAAAAAAAAGGTAGATTTATGTATAATAAGGGGCTCCATTTTGAGAGGCCTGGAAATGATTAAAATATTCTTAATTGGCTGGGCGCAGTGGCTGACGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAAATACAAAGAATTAGCCGGGCGTGGTGGCGGGTGCTTGTAGTCCTAGCTACTCGGGCAGCTGAGGCAGGAGAATGGCGTAAACCTGGGAGGCGGAGCTTGCAGTGAGCCTGGATCACGTCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAACATAAATAAAATAAAATAAAATATCCTTAATCTTGGTTTTATAGGCATGCCCTCCCCGAATCCAGTTGATTTACATATAGTCGATTGGTTCACATTATATCTGGAGTCATGAAGAGTTAGACATTTCTGTTGCCTTGGGGAGTATATTTACATTTATAAAACTTTAGTGATACCTAACTTGTCATTATCTGGAGTTCAAAAACACTACCTTAGATCATCATCATGATTTGGTTGTTTGTCATCTTTCTGTTGACAGTATGCAGTTGGCAGTAGATGTGCAGATACCAGAATGTTTTGGAGGAGTGGCAGGTGAAGCAGTTTTTATTGATACAGAGGGAAGTTTTATGGTTGATAGAGTGGTAGACCTTGCTACTGCCTGCATTCAGCACCTTCAGCTTATAGCAGAAAAACACAAGGGAGAGGGTAAGTTAGTAAATGATCTTCTTTTTTTCTGTATTAATAAAAGTAATTTGCATTTGTGCCCATCTGAGACCTCAGCAACACTCCATTTGGAATGTGAAGCCTAATTACTGGACAGTTAACTAGTGTTAAACTCTTTTACTACTGTTACAAAATGAGAAATGCCACAGCCTGGACTGGCTTTTTTTTGTTCCCCT | TGGTTAGGAGAACTGTGGTCGTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTTCTGTTCAGCACTAGATGATATTCTTGGGGGTGGAGTGCCCTTAATGAAAACAACAGAAATTTGTGGTGCACCAGGTGTTGGAAAAACACAATTATGGTAAAATAAAGTGTTCTCCTTTTAAGGGTGGGTTTAATAACATATTATGAAAGTAGTATTTTGTACTATCGTCAGGAAACCAAATAAGATATATATGTGCTCTTAATTTTAAGTGTGTATGTGCATTAAACAAAAATTAGCTTACTATTTGTGTTACTTCATTATCCCTTCTTGATAAATGTATGCAATTATTCTGATGTGAAAAAGTGTTTCTTTTGCAAATTGTACTGCAGTCATAAGGTTAAACAGGAAGTTTCTGCGTTATTCATTCCTGAGACTATATTTGAAAGTCAGATGTTTGAAAGTAGATTTATGGCTAGGGGTAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGGCCTGCCTGGGCAACATAGTGAGACCTCGTCTCTACTAAAAATGGAAAATTAGCTGAGTGTGGTGGCACATGCCTGTGGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGCCGGGGAGGTCAAAACTGCAGTGAGCCTTAATCACATCACTGGGCAGCAGAGTGAGACCCTATCTCAAAAAAAAAAGAGGCCGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGTCAACATGGCGAAACCCCATCTCTACTAAAAATAAAAAAATTAGCCAGGCATGGTGGTTCACGCCTATAGTCTCAGCTCCTCGGGAGGCTGAGGCAGGAGAATCGCTTGTACTTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCTTGGGTGACAGAGCAAGACTCTGTCTCAAAAGAAAAAAAAAAAAGGTAGATTTATGTATAATAAGGGGCTCCATTTTGAGAGGCCTGGAAATGATTAAAATATTCTTAATTGGCTGGGCGCAGTGGCTGACGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAAATACAAAGAATTAGCCGGGCGTGGTGGCGGGTGCTTGTAGTCCTAGCTACTCGGGCAGCTGAGGCAGGAGAATGGCGTAAACCTGGGAGGCGGAGCTTGCAGTGAGCCTGGATCACGTCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAACATAAATAAAATAAAATAAAATATCCTTAATCTTGGTTTTATAGGCATGCCCTCCCCGAATCCAGTTGATTTACATATAGTCGATTGGTTCACATTATATCTGGAGTCATGAAGAGTTAGACATTTCTGTTGCCTTGGGGAGTATATTTACATTTATAAAACTTTAGTGATACCTAACTTGTCATTATCTGGAGTTCAAAAACACTACCTTAGATCATCATCATGATTTGGTTGTTTGTCATCTTTCTGTTGACAGTATGCAGTTGGCAGTAGATGTGCAGATACCAGAATGTTTTGGAGGAGTGGCAGGTGAAGCAGTTTTTATTGATACAGAGGGAAGTTTTATGGTTGATAGAGTGGTAGACCTTGCTACTGCCTGCATTCAGCACCTTCAGCTTATAGCAGAAAAACACAAGGGAGAGGGTAAGTTAGTAAATGATCTTCTTTTTTTCTGTATTAATAAAAGTAATTTGCATTTGTGCCCATCTGAGACCTCAGCAACACTCCATTTGGAATGTGAAGCCTAATTACTGGACAGTTAACTAGTGTTAAACTCTTTTACTACTGTTACAAAATGAGAAATGCCACAGCCTGGACTGGCTTTTTTTTGTTCCC | pathogenic | 279,661 |
Clinical significance of chromosome 17, position 58695008, gene RAD51C (RAD51 paralog C): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Fanconi_anemia_complementation_group_O', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Ovarian_neoplasm', 'RAD51C-related_disorder'] | GTTAGGAGAACTGTGGTCGTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTTCTGTTCAGCACTAGATGATATTCTTGGGGGTGGAGTGCCCTTAATGAAAACAACAGAAATTTGTGGTGCACCAGGTGTTGGAAAAACACAATTATGGTAAAATAAAGTGTTCTCCTTTTAAGGGTGGGTTTAATAACATATTATGAAAGTAGTATTTTGTACTATCGTCAGGAAACCAAATAAGATATATATGTGCTCTTAATTTTAAGTGTGTATGTGCATTAAACAAAAATTAGCTTACTATTTGTGTTACTTCATTATCCCTTCTTGATAAATGTATGCAATTATTCTGATGTGAAAAAGTGTTTCTTTTGCAAATTGTACTGCAGTCATAAGGTTAAACAGGAAGTTTCTGCGTTATTCATTCCTGAGACTATATTTGAAAGTCAGATGTTTGAAAGTAGATTTATGGCTAGGGGTAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGGCCTGCCTGGGCAACATAGTGAGACCTCGTCTCTACTAAAAATGGAAAATTAGCTGAGTGTGGTGGCACATGCCTGTGGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGCCGGGGAGGTCAAAACTGCAGTGAGCCTTAATCACATCACTGGGCAGCAGAGTGAGACCCTATCTCAAAAAAAAAAGAGGCCGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGTCAACATGGCGAAACCCCATCTCTACTAAAAATAAAAAAATTAGCCAGGCATGGTGGTTCACGCCTATAGTCTCAGCTCCTCGGGAGGCTGAGGCAGGAGAATCGCTTGTACTTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCTTGGGTGACAGAGCAAGACTCTGTCTCAAAAGAAAAAAAAAAAAGGTAGATTTATGTATAATAAGGGGCTCCATTTTGAGAGGCCTGGAAATGATTAAAATATTCTTAATTGGCTGGGCGCAGTGGCTGACGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAAATACAAAGAATTAGCCGGGCGTGGTGGCGGGTGCTTGTAGTCCTAGCTACTCGGGCAGCTGAGGCAGGAGAATGGCGTAAACCTGGGAGGCGGAGCTTGCAGTGAGCCTGGATCACGTCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAACATAAATAAAATAAAATAAAATATCCTTAATCTTGGTTTTATAGGCATGCCCTCCCCGAATCCAGTTGATTTACATATAGTCGATTGGTTCACATTATATCTGGAGTCATGAAGAGTTAGACATTTCTGTTGCCTTGGGGAGTATATTTACATTTATAAAACTTTAGTGATACCTAACTTGTCATTATCTGGAGTTCAAAAACACTACCTTAGATCATCATCATGATTTGGTTGTTTGTCATCTTTCTGTTGACAGTATGCAGTTGGCAGTAGATGTGCAGATACCAGAATGTTTTGGAGGAGTGGCAGGTGAAGCAGTTTTTATTGATACAGAGGGAAGTTTTATGGTTGATAGAGTGGTAGACCTTGCTACTGCCTGCATTCAGCACCTTCAGCTTATAGCAGAAAAACACAAGGGAGAGGGTAAGTTAGTAAATGATCTTCTTTTTTTCTGTATTAATAAAAGTAATTTGCATTTGTGCCCATCTGAGACCTCAGCAACACTCCATTTGGAATGTGAAGCCTAATTACTGGACAGTTAACTAGTGTTAAACTCTTTTACTACTGTTACAAAATGAGAAATGCCACAGCCTGGACTGGCTTTTTTTTGTTCCCCTTT | GTTAGGAGAACTGTGGTCGTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATAATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTTCTGTTCAGCACTAGATGATATTCTTGGGGGTGGAGTGCCCTTAATGAAAACAACAGAAATTTGTGGTGCACCAGGTGTTGGAAAAACACAATTATGGTAAAATAAAGTGTTCTCCTTTTAAGGGTGGGTTTAATAACATATTATGAAAGTAGTATTTTGTACTATCGTCAGGAAACCAAATAAGATATATATGTGCTCTTAATTTTAAGTGTGTATGTGCATTAAACAAAAATTAGCTTACTATTTGTGTTACTTCATTATCCCTTCTTGATAAATGTATGCAATTATTCTGATGTGAAAAAGTGTTTCTTTTGCAAATTGTACTGCAGTCATAAGGTTAAACAGGAAGTTTCTGCGTTATTCATTCCTGAGACTATATTTGAAAGTCAGATGTTTGAAAGTAGATTTATGGCTAGGGGTAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGGCCTGCCTGGGCAACATAGTGAGACCTCGTCTCTACTAAAAATGGAAAATTAGCTGAGTGTGGTGGCACATGCCTGTGGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGCCGGGGAGGTCAAAACTGCAGTGAGCCTTAATCACATCACTGGGCAGCAGAGTGAGACCCTATCTCAAAAAAAAAAGAGGCCGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGTCAACATGGCGAAACCCCATCTCTACTAAAAATAAAAAAATTAGCCAGGCATGGTGGTTCACGCCTATAGTCTCAGCTCCTCGGGAGGCTGAGGCAGGAGAATCGCTTGTACTTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCTTGGGTGACAGAGCAAGACTCTGTCTCAAAAGAAAAAAAAAAAAGGTAGATTTATGTATAATAAGGGGCTCCATTTTGAGAGGCCTGGAAATGATTAAAATATTCTTAATTGGCTGGGCGCAGTGGCTGACGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAAATACAAAGAATTAGCCGGGCGTGGTGGCGGGTGCTTGTAGTCCTAGCTACTCGGGCAGCTGAGGCAGGAGAATGGCGTAAACCTGGGAGGCGGAGCTTGCAGTGAGCCTGGATCACGTCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAACATAAATAAAATAAAATAAAATATCCTTAATCTTGGTTTTATAGGCATGCCCTCCCCGAATCCAGTTGATTTACATATAGTCGATTGGTTCACATTATATCTGGAGTCATGAAGAGTTAGACATTTCTGTTGCCTTGGGGAGTATATTTACATTTATAAAACTTTAGTGATACCTAACTTGTCATTATCTGGAGTTCAAAAACACTACCTTAGATCATCATCATGATTTGGTTGTTTGTCATCTTTCTGTTGACAGTATGCAGTTGGCAGTAGATGTGCAGATACCAGAATGTTTTGGAGGAGTGGCAGGTGAAGCAGTTTTTATTGATACAGAGGGAAGTTTTATGGTTGATAGAGTGGTAGACCTTGCTACTGCCTGCATTCAGCACCTTCAGCTTATAGCAGAAAAACACAAGGGAGAGGGTAAGTTAGTAAATGATCTTCTTTTTTTCTGTATTAATAAAAGTAATTTGCATTTGTGCCCATCTGAGACCTCAGCAACACTCCATTTGGAATGTGAAGCCTAATTACTGGACAGTTAACTAGTGTTAAACTCTTTTACTACTGTTACAAAATGAGAAATGCCACAGCCTGGACTGGCTTTTTTTTGTTCCCCTT | pathogenic | 279,662 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 58695009, gene RAD51C (RAD51 paralog C): what disease(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | TTAGGAGAACTGTGGTCGTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTTCTGTTCAGCACTAGATGATATTCTTGGGGGTGGAGTGCCCTTAATGAAAACAACAGAAATTTGTGGTGCACCAGGTGTTGGAAAAACACAATTATGGTAAAATAAAGTGTTCTCCTTTTAAGGGTGGGTTTAATAACATATTATGAAAGTAGTATTTTGTACTATCGTCAGGAAACCAAATAAGATATATATGTGCTCTTAATTTTAAGTGTGTATGTGCATTAAACAAAAATTAGCTTACTATTTGTGTTACTTCATTATCCCTTCTTGATAAATGTATGCAATTATTCTGATGTGAAAAAGTGTTTCTTTTGCAAATTGTACTGCAGTCATAAGGTTAAACAGGAAGTTTCTGCGTTATTCATTCCTGAGACTATATTTGAAAGTCAGATGTTTGAAAGTAGATTTATGGCTAGGGGTAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGGCCTGCCTGGGCAACATAGTGAGACCTCGTCTCTACTAAAAATGGAAAATTAGCTGAGTGTGGTGGCACATGCCTGTGGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGCCGGGGAGGTCAAAACTGCAGTGAGCCTTAATCACATCACTGGGCAGCAGAGTGAGACCCTATCTCAAAAAAAAAAGAGGCCGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGTCAACATGGCGAAACCCCATCTCTACTAAAAATAAAAAAATTAGCCAGGCATGGTGGTTCACGCCTATAGTCTCAGCTCCTCGGGAGGCTGAGGCAGGAGAATCGCTTGTACTTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCTTGGGTGACAGAGCAAGACTCTGTCTCAAAAGAAAAAAAAAAAAGGTAGATTTATGTATAATAAGGGGCTCCATTTTGAGAGGCCTGGAAATGATTAAAATATTCTTAATTGGCTGGGCGCAGTGGCTGACGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAAATACAAAGAATTAGCCGGGCGTGGTGGCGGGTGCTTGTAGTCCTAGCTACTCGGGCAGCTGAGGCAGGAGAATGGCGTAAACCTGGGAGGCGGAGCTTGCAGTGAGCCTGGATCACGTCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAACATAAATAAAATAAAATAAAATATCCTTAATCTTGGTTTTATAGGCATGCCCTCCCCGAATCCAGTTGATTTACATATAGTCGATTGGTTCACATTATATCTGGAGTCATGAAGAGTTAGACATTTCTGTTGCCTTGGGGAGTATATTTACATTTATAAAACTTTAGTGATACCTAACTTGTCATTATCTGGAGTTCAAAAACACTACCTTAGATCATCATCATGATTTGGTTGTTTGTCATCTTTCTGTTGACAGTATGCAGTTGGCAGTAGATGTGCAGATACCAGAATGTTTTGGAGGAGTGGCAGGTGAAGCAGTTTTTATTGATACAGAGGGAAGTTTTATGGTTGATAGAGTGGTAGACCTTGCTACTGCCTGCATTCAGCACCTTCAGCTTATAGCAGAAAAACACAAGGGAGAGGGTAAGTTAGTAAATGATCTTCTTTTTTTCTGTATTAATAAAAGTAATTTGCATTTGTGCCCATCTGAGACCTCAGCAACACTCCATTTGGAATGTGAAGCCTAATTACTGGACAGTTAACTAGTGTTAAACTCTTTTACTACTGTTACAAAATGAGAAATGCCACAGCCTGGACTGGCTTTTTTTTGTTCCCCTTTT | TTAGGAGAACTGTGGTCGTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATAGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTTCTGTTCAGCACTAGATGATATTCTTGGGGGTGGAGTGCCCTTAATGAAAACAACAGAAATTTGTGGTGCACCAGGTGTTGGAAAAACACAATTATGGTAAAATAAAGTGTTCTCCTTTTAAGGGTGGGTTTAATAACATATTATGAAAGTAGTATTTTGTACTATCGTCAGGAAACCAAATAAGATATATATGTGCTCTTAATTTTAAGTGTGTATGTGCATTAAACAAAAATTAGCTTACTATTTGTGTTACTTCATTATCCCTTCTTGATAAATGTATGCAATTATTCTGATGTGAAAAAGTGTTTCTTTTGCAAATTGTACTGCAGTCATAAGGTTAAACAGGAAGTTTCTGCGTTATTCATTCCTGAGACTATATTTGAAAGTCAGATGTTTGAAAGTAGATTTATGGCTAGGGGTAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGGCCTGCCTGGGCAACATAGTGAGACCTCGTCTCTACTAAAAATGGAAAATTAGCTGAGTGTGGTGGCACATGCCTGTGGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGCCGGGGAGGTCAAAACTGCAGTGAGCCTTAATCACATCACTGGGCAGCAGAGTGAGACCCTATCTCAAAAAAAAAAGAGGCCGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGTCAACATGGCGAAACCCCATCTCTACTAAAAATAAAAAAATTAGCCAGGCATGGTGGTTCACGCCTATAGTCTCAGCTCCTCGGGAGGCTGAGGCAGGAGAATCGCTTGTACTTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCTTGGGTGACAGAGCAAGACTCTGTCTCAAAAGAAAAAAAAAAAAGGTAGATTTATGTATAATAAGGGGCTCCATTTTGAGAGGCCTGGAAATGATTAAAATATTCTTAATTGGCTGGGCGCAGTGGCTGACGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAAATACAAAGAATTAGCCGGGCGTGGTGGCGGGTGCTTGTAGTCCTAGCTACTCGGGCAGCTGAGGCAGGAGAATGGCGTAAACCTGGGAGGCGGAGCTTGCAGTGAGCCTGGATCACGTCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAACATAAATAAAATAAAATAAAATATCCTTAATCTTGGTTTTATAGGCATGCCCTCCCCGAATCCAGTTGATTTACATATAGTCGATTGGTTCACATTATATCTGGAGTCATGAAGAGTTAGACATTTCTGTTGCCTTGGGGAGTATATTTACATTTATAAAACTTTAGTGATACCTAACTTGTCATTATCTGGAGTTCAAAAACACTACCTTAGATCATCATCATGATTTGGTTGTTTGTCATCTTTCTGTTGACAGTATGCAGTTGGCAGTAGATGTGCAGATACCAGAATGTTTTGGAGGAGTGGCAGGTGAAGCAGTTTTTATTGATACAGAGGGAAGTTTTATGGTTGATAGAGTGGTAGACCTTGCTACTGCCTGCATTCAGCACCTTCAGCTTATAGCAGAAAAACACAAGGGAGAGGGTAAGTTAGTAAATGATCTTCTTTTTTTCTGTATTAATAAAAGTAATTTGCATTTGTGCCCATCTGAGACCTCAGCAACACTCCATTTGGAATGTGAAGCCTAATTACTGGACAGTTAACTAGTGTTAAACTCTTTTACTACTGTTACAAAATGAGAAATGCCACAGCCTGGACTGGCTTTTTTTTGTTCCCCTTTTN | pathogenic | 279,663 |
A genetic alteration at chromosome 17, position 58695013, in gene RAD51C (RAD51 paralog C)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Hereditary_cancer-predisposing_syndrome', 'Ovarian_neoplasm'] | GAGAACTGTGGTCGTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTTCTGTTCAGCACTAGATGATATTCTTGGGGGTGGAGTGCCCTTAATGAAAACAACAGAAATTTGTGGTGCACCAGGTGTTGGAAAAACACAATTATGGTAAAATAAAGTGTTCTCCTTTTAAGGGTGGGTTTAATAACATATTATGAAAGTAGTATTTTGTACTATCGTCAGGAAACCAAATAAGATATATATGTGCTCTTAATTTTAAGTGTGTATGTGCATTAAACAAAAATTAGCTTACTATTTGTGTTACTTCATTATCCCTTCTTGATAAATGTATGCAATTATTCTGATGTGAAAAAGTGTTTCTTTTGCAAATTGTACTGCAGTCATAAGGTTAAACAGGAAGTTTCTGCGTTATTCATTCCTGAGACTATATTTGAAAGTCAGATGTTTGAAAGTAGATTTATGGCTAGGGGTAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGGCCTGCCTGGGCAACATAGTGAGACCTCGTCTCTACTAAAAATGGAAAATTAGCTGAGTGTGGTGGCACATGCCTGTGGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGCCGGGGAGGTCAAAACTGCAGTGAGCCTTAATCACATCACTGGGCAGCAGAGTGAGACCCTATCTCAAAAAAAAAAGAGGCCGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGTCAACATGGCGAAACCCCATCTCTACTAAAAATAAAAAAATTAGCCAGGCATGGTGGTTCACGCCTATAGTCTCAGCTCCTCGGGAGGCTGAGGCAGGAGAATCGCTTGTACTTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCTTGGGTGACAGAGCAAGACTCTGTCTCAAAAGAAAAAAAAAAAAGGTAGATTTATGTATAATAAGGGGCTCCATTTTGAGAGGCCTGGAAATGATTAAAATATTCTTAATTGGCTGGGCGCAGTGGCTGACGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAAATACAAAGAATTAGCCGGGCGTGGTGGCGGGTGCTTGTAGTCCTAGCTACTCGGGCAGCTGAGGCAGGAGAATGGCGTAAACCTGGGAGGCGGAGCTTGCAGTGAGCCTGGATCACGTCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAACATAAATAAAATAAAATAAAATATCCTTAATCTTGGTTTTATAGGCATGCCCTCCCCGAATCCAGTTGATTTACATATAGTCGATTGGTTCACATTATATCTGGAGTCATGAAGAGTTAGACATTTCTGTTGCCTTGGGGAGTATATTTACATTTATAAAACTTTAGTGATACCTAACTTGTCATTATCTGGAGTTCAAAAACACTACCTTAGATCATCATCATGATTTGGTTGTTTGTCATCTTTCTGTTGACAGTATGCAGTTGGCAGTAGATGTGCAGATACCAGAATGTTTTGGAGGAGTGGCAGGTGAAGCAGTTTTTATTGATACAGAGGGAAGTTTTATGGTTGATAGAGTGGTAGACCTTGCTACTGCCTGCATTCAGCACCTTCAGCTTATAGCAGAAAAACACAAGGGAGAGGGTAAGTTAGTAAATGATCTTCTTTTTTTCTGTATTAATAAAAGTAATTTGCATTTGTGCCCATCTGAGACCTCAGCAACACTCCATTTGGAATGTGAAGCCTAATTACTGGACAGTTAACTAGTGTTAAACTCTTTTACTACTGTTACAAAATGAGAAATGCCACAGCCTGGACTGGCTTTTTTTTGTTCCCCTTTTATGG | GAGAACTGTGGTCGTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTTCTGTTCAGCACTAGATGATATTCTTGGGGGTGGAGTGCCCTTAATGAAAACAACAGAAATTTGTGGTGCACCAGGTGTTGGAAAAACACAATTATGGTAAAATAAAGTGTTCTCCTTTTAAGGGTGGGTTTAATAACATATTATGAAAGTAGTATTTTGTACTATCGTCAGGAAACCAAATAAGATATATATGTGCTCTTAATTTTAAGTGTGTATGTGCATTAAACAAAAATTAGCTTACTATTTGTGTTACTTCATTATCCCTTCTTGATAAATGTATGCAATTATTCTGATGTGAAAAAGTGTTTCTTTTGCAAATTGTACTGCAGTCATAAGGTTAAACAGGAAGTTTCTGCGTTATTCATTCCTGAGACTATATTTGAAAGTCAGATGTTTGAAAGTAGATTTATGGCTAGGGGTAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGGCCTGCCTGGGCAACATAGTGAGACCTCGTCTCTACTAAAAATGGAAAATTAGCTGAGTGTGGTGGCACATGCCTGTGGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGCCGGGGAGGTCAAAACTGCAGTGAGCCTTAATCACATCACTGGGCAGCAGAGTGAGACCCTATCTCAAAAAAAAAAGAGGCCGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGTCAACATGGCGAAACCCCATCTCTACTAAAAATAAAAAAATTAGCCAGGCATGGTGGTTCACGCCTATAGTCTCAGCTCCTCGGGAGGCTGAGGCAGGAGAATCGCTTGTACTTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCTTGGGTGACAGAGCAAGACTCTGTCTCAAAAGAAAAAAAAAAAAGGTAGATTTATGTATAATAAGGGGCTCCATTTTGAGAGGCCTGGAAATGATTAAAATATTCTTAATTGGCTGGGCGCAGTGGCTGACGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAAATACAAAGAATTAGCCGGGCGTGGTGGCGGGTGCTTGTAGTCCTAGCTACTCGGGCAGCTGAGGCAGGAGAATGGCGTAAACCTGGGAGGCGGAGCTTGCAGTGAGCCTGGATCACGTCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAACATAAATAAAATAAAATAAAATATCCTTAATCTTGGTTTTATAGGCATGCCCTCCCCGAATCCAGTTGATTTACATATAGTCGATTGGTTCACATTATATCTGGAGTCATGAAGAGTTAGACATTTCTGTTGCCTTGGGGAGTATATTTACATTTATAAAACTTTAGTGATACCTAACTTGTCATTATCTGGAGTTCAAAAACACTACCTTAGATCATCATCATGATTTGGTTGTTTGTCATCTTTCTGTTGACAGTATGCAGTTGGCAGTAGATGTGCAGATACCAGAATGTTTTGGAGGAGTGGCAGGTGAAGCAGTTTTTATTGATACAGAGGGAAGTTTTATGGTTGATAGAGTGGTAGACCTTGCTACTGCCTGCATTCAGCACCTTCAGCTTATAGCAGAAAAACACAAGGGAGAGGGTAAGTTAGTAAATGATCTTCTTTTTTTCTGTATTAATAAAAGTAATTTGCATTTGTGCCCATCTGAGACCTCAGCAACACTCCATTTGGAATGTGAAGCCTAATTACTGGACAGTTAACTAGTGTTAAACTCTTTTACTACTGTTACAAAATGAGAAATGCCACAGCCTGGACTGGCTTTTTTTTGTTCCCCTTTTATGGN | pathogenic | 279,666 |
Benign or pathogenic: chromosome 17, position 58695021, gene RAD51C (RAD51 paralog C) variant? Disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Fanconi_anemia_complementation_group_O', 'Hereditary_cancer-predisposing_syndrome'] | TGGTCGTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTTCTGTTCAGCACTAGATGATATTCTTGGGGGTGGAGTGCCCTTAATGAAAACAACAGAAATTTGTGGTGCACCAGGTGTTGGAAAAACACAATTATGGTAAAATAAAGTGTTCTCCTTTTAAGGGTGGGTTTAATAACATATTATGAAAGTAGTATTTTGTACTATCGTCAGGAAACCAAATAAGATATATATGTGCTCTTAATTTTAAGTGTGTATGTGCATTAAACAAAAATTAGCTTACTATTTGTGTTACTTCATTATCCCTTCTTGATAAATGTATGCAATTATTCTGATGTGAAAAAGTGTTTCTTTTGCAAATTGTACTGCAGTCATAAGGTTAAACAGGAAGTTTCTGCGTTATTCATTCCTGAGACTATATTTGAAAGTCAGATGTTTGAAAGTAGATTTATGGCTAGGGGTAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGGCCTGCCTGGGCAACATAGTGAGACCTCGTCTCTACTAAAAATGGAAAATTAGCTGAGTGTGGTGGCACATGCCTGTGGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGCCGGGGAGGTCAAAACTGCAGTGAGCCTTAATCACATCACTGGGCAGCAGAGTGAGACCCTATCTCAAAAAAAAAAGAGGCCGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGTCAACATGGCGAAACCCCATCTCTACTAAAAATAAAAAAATTAGCCAGGCATGGTGGTTCACGCCTATAGTCTCAGCTCCTCGGGAGGCTGAGGCAGGAGAATCGCTTGTACTTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCTTGGGTGACAGAGCAAGACTCTGTCTCAAAAGAAAAAAAAAAAAGGTAGATTTATGTATAATAAGGGGCTCCATTTTGAGAGGCCTGGAAATGATTAAAATATTCTTAATTGGCTGGGCGCAGTGGCTGACGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAAATACAAAGAATTAGCCGGGCGTGGTGGCGGGTGCTTGTAGTCCTAGCTACTCGGGCAGCTGAGGCAGGAGAATGGCGTAAACCTGGGAGGCGGAGCTTGCAGTGAGCCTGGATCACGTCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAACATAAATAAAATAAAATAAAATATCCTTAATCTTGGTTTTATAGGCATGCCCTCCCCGAATCCAGTTGATTTACATATAGTCGATTGGTTCACATTATATCTGGAGTCATGAAGAGTTAGACATTTCTGTTGCCTTGGGGAGTATATTTACATTTATAAAACTTTAGTGATACCTAACTTGTCATTATCTGGAGTTCAAAAACACTACCTTAGATCATCATCATGATTTGGTTGTTTGTCATCTTTCTGTTGACAGTATGCAGTTGGCAGTAGATGTGCAGATACCAGAATGTTTTGGAGGAGTGGCAGGTGAAGCAGTTTTTATTGATACAGAGGGAAGTTTTATGGTTGATAGAGTGGTAGACCTTGCTACTGCCTGCATTCAGCACCTTCAGCTTATAGCAGAAAAACACAAGGGAGAGGGTAAGTTAGTAAATGATCTTCTTTTTTTCTGTATTAATAAAAGTAATTTGCATTTGTGCCCATCTGAGACCTCAGCAACACTCCATTTGGAATGTGAAGCCTAATTACTGGACAGTTAACTAGTGTTAAACTCTTTTACTACTGTTACAAAATGAGAAATGCCACAGCCTGGACTGGCTTTTTTTTGTTCCCCTTTTATGGCCCTCACT | TGGTCGTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTTCTGTTCAGCACTAGATGATATTCTTGGGGGTGGAGTGCCCTTAATGAAAACAACAGAAATTTGTGGTGCACCAGGTGTTGGAAAAACACAATTATGGTAAAATAAAGTGTTCTCCTTTTAAGGGTGGGTTTAATAACATATTATGAAAGTAGTATTTTGTACTATCGTCAGGAAACCAAATAAGATATATATGTGCTCTTAATTTTAAGTGTGTATGTGCATTAAACAAAAATTAGCTTACTATTTGTGTTACTTCATTATCCCTTCTTGATAAATGTATGCAATTATTCTGATGTGAAAAAGTGTTTCTTTTGCAAATTGTACTGCAGTCATAAGGTTAAACAGGAAGTTTCTGCGTTATTCATTCCTGAGACTATATTTGAAAGTCAGATGTTTGAAAGTAGATTTATGGCTAGGGGTAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGGCCTGCCTGGGCAACATAGTGAGACCTCGTCTCTACTAAAAATGGAAAATTAGCTGAGTGTGGTGGCACATGCCTGTGGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGCCGGGGAGGTCAAAACTGCAGTGAGCCTTAATCACATCACTGGGCAGCAGAGTGAGACCCTATCTCAAAAAAAAAAGAGGCCGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGTCAACATGGCGAAACCCCATCTCTACTAAAAATAAAAAAATTAGCCAGGCATGGTGGTTCACGCCTATAGTCTCAGCTCCTCGGGAGGCTGAGGCAGGAGAATCGCTTGTACTTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCTTGGGTGACAGAGCAAGACTCTGTCTCAAAAGAAAAAAAAAAAAGGTAGATTTATGTATAATAAGGGGCTCCATTTTGAGAGGCCTGGAAATGATTAAAATATTCTTAATTGGCTGGGCGCAGTGGCTGACGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAAATACAAAGAATTAGCCGGGCGTGGTGGCGGGTGCTTGTAGTCCTAGCTACTCGGGCAGCTGAGGCAGGAGAATGGCGTAAACCTGGGAGGCGGAGCTTGCAGTGAGCCTGGATCACGTCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAACATAAATAAAATAAAATAAAATATCCTTAATCTTGGTTTTATAGGCATGCCCTCCCCGAATCCAGTTGATTTACATATAGTCGATTGGTTCACATTATATCTGGAGTCATGAAGAGTTAGACATTTCTGTTGCCTTGGGGAGTATATTTACATTTATAAAACTTTAGTGATACCTAACTTGTCATTATCTGGAGTTCAAAAACACTACCTTAGATCATCATCATGATTTGGTTGTTTGTCATCTTTCTGTTGACAGTATGCAGTTGGCAGTAGATGTGCAGATACCAGAATGTTTTGGAGGAGTGGCAGGTGAAGCAGTTTTTATTGATACAGAGGGAAGTTTTATGGTTGATAGAGTGGTAGACCTTGCTACTGCCTGCATTCAGCACCTTCAGCTTATAGCAGAAAAACACAAGGGAGAGGGTAAGTTAGTAAATGATCTTCTTTTTTTCTGTATTAATAAAAGTAATTTGCATTTGTGCCCATCTGAGACCTCAGCAACACTCCATTTGGAATGTGAAGCCTAATTACTGGACAGTTAACTAGTGTTAAACTCTTTTACTACTGTTACAAAATGAGAAATGCCACAGCCTGGACTGGCTTTTTTTTGTTCCCCTTTTATGGCCCTCAC | pathogenic | 279,668 |
Evaluate the clinical significance of the mutation at chromosome 17, position 58695026 in gene RAD51C (RAD51 paralog C): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Hereditary_cancer-predisposing_syndrome'] | GTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTTCTGTTCAGCACTAGATGATATTCTTGGGGGTGGAGTGCCCTTAATGAAAACAACAGAAATTTGTGGTGCACCAGGTGTTGGAAAAACACAATTATGGTAAAATAAAGTGTTCTCCTTTTAAGGGTGGGTTTAATAACATATTATGAAAGTAGTATTTTGTACTATCGTCAGGAAACCAAATAAGATATATATGTGCTCTTAATTTTAAGTGTGTATGTGCATTAAACAAAAATTAGCTTACTATTTGTGTTACTTCATTATCCCTTCTTGATAAATGTATGCAATTATTCTGATGTGAAAAAGTGTTTCTTTTGCAAATTGTACTGCAGTCATAAGGTTAAACAGGAAGTTTCTGCGTTATTCATTCCTGAGACTATATTTGAAAGTCAGATGTTTGAAAGTAGATTTATGGCTAGGGGTAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGGCCTGCCTGGGCAACATAGTGAGACCTCGTCTCTACTAAAAATGGAAAATTAGCTGAGTGTGGTGGCACATGCCTGTGGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGCCGGGGAGGTCAAAACTGCAGTGAGCCTTAATCACATCACTGGGCAGCAGAGTGAGACCCTATCTCAAAAAAAAAAGAGGCCGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGTCAACATGGCGAAACCCCATCTCTACTAAAAATAAAAAAATTAGCCAGGCATGGTGGTTCACGCCTATAGTCTCAGCTCCTCGGGAGGCTGAGGCAGGAGAATCGCTTGTACTTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCTTGGGTGACAGAGCAAGACTCTGTCTCAAAAGAAAAAAAAAAAAGGTAGATTTATGTATAATAAGGGGCTCCATTTTGAGAGGCCTGGAAATGATTAAAATATTCTTAATTGGCTGGGCGCAGTGGCTGACGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAAATACAAAGAATTAGCCGGGCGTGGTGGCGGGTGCTTGTAGTCCTAGCTACTCGGGCAGCTGAGGCAGGAGAATGGCGTAAACCTGGGAGGCGGAGCTTGCAGTGAGCCTGGATCACGTCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAACATAAATAAAATAAAATAAAATATCCTTAATCTTGGTTTTATAGGCATGCCCTCCCCGAATCCAGTTGATTTACATATAGTCGATTGGTTCACATTATATCTGGAGTCATGAAGAGTTAGACATTTCTGTTGCCTTGGGGAGTATATTTACATTTATAAAACTTTAGTGATACCTAACTTGTCATTATCTGGAGTTCAAAAACACTACCTTAGATCATCATCATGATTTGGTTGTTTGTCATCTTTCTGTTGACAGTATGCAGTTGGCAGTAGATGTGCAGATACCAGAATGTTTTGGAGGAGTGGCAGGTGAAGCAGTTTTTATTGATACAGAGGGAAGTTTTATGGTTGATAGAGTGGTAGACCTTGCTACTGCCTGCATTCAGCACCTTCAGCTTATAGCAGAAAAACACAAGGGAGAGGGTAAGTTAGTAAATGATCTTCTTTTTTTCTGTATTAATAAAAGTAATTTGCATTTGTGCCCATCTGAGACCTCAGCAACACTCCATTTGGAATGTGAAGCCTAATTACTGGACAGTTAACTAGTGTTAAACTCTTTTACTACTGTTACAAAATGAGAAATGCCACAGCCTGGACTGGCTTTTTTTTGTTCCCCTTTTATGGCCCTCACTTCTTC | GTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGGCAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTTCTGTTCAGCACTAGATGATATTCTTGGGGGTGGAGTGCCCTTAATGAAAACAACAGAAATTTGTGGTGCACCAGGTGTTGGAAAAACACAATTATGGTAAAATAAAGTGTTCTCCTTTTAAGGGTGGGTTTAATAACATATTATGAAAGTAGTATTTTGTACTATCGTCAGGAAACCAAATAAGATATATATGTGCTCTTAATTTTAAGTGTGTATGTGCATTAAACAAAAATTAGCTTACTATTTGTGTTACTTCATTATCCCTTCTTGATAAATGTATGCAATTATTCTGATGTGAAAAAGTGTTTCTTTTGCAAATTGTACTGCAGTCATAAGGTTAAACAGGAAGTTTCTGCGTTATTCATTCCTGAGACTATATTTGAAAGTCAGATGTTTGAAAGTAGATTTATGGCTAGGGGTAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGGCCTGCCTGGGCAACATAGTGAGACCTCGTCTCTACTAAAAATGGAAAATTAGCTGAGTGTGGTGGCACATGCCTGTGGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGCCGGGGAGGTCAAAACTGCAGTGAGCCTTAATCACATCACTGGGCAGCAGAGTGAGACCCTATCTCAAAAAAAAAAGAGGCCGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGTCAACATGGCGAAACCCCATCTCTACTAAAAATAAAAAAATTAGCCAGGCATGGTGGTTCACGCCTATAGTCTCAGCTCCTCGGGAGGCTGAGGCAGGAGAATCGCTTGTACTTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCTTGGGTGACAGAGCAAGACTCTGTCTCAAAAGAAAAAAAAAAAAGGTAGATTTATGTATAATAAGGGGCTCCATTTTGAGAGGCCTGGAAATGATTAAAATATTCTTAATTGGCTGGGCGCAGTGGCTGACGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAAATACAAAGAATTAGCCGGGCGTGGTGGCGGGTGCTTGTAGTCCTAGCTACTCGGGCAGCTGAGGCAGGAGAATGGCGTAAACCTGGGAGGCGGAGCTTGCAGTGAGCCTGGATCACGTCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAACATAAATAAAATAAAATAAAATATCCTTAATCTTGGTTTTATAGGCATGCCCTCCCCGAATCCAGTTGATTTACATATAGTCGATTGGTTCACATTATATCTGGAGTCATGAAGAGTTAGACATTTCTGTTGCCTTGGGGAGTATATTTACATTTATAAAACTTTAGTGATACCTAACTTGTCATTATCTGGAGTTCAAAAACACTACCTTAGATCATCATCATGATTTGGTTGTTTGTCATCTTTCTGTTGACAGTATGCAGTTGGCAGTAGATGTGCAGATACCAGAATGTTTTGGAGGAGTGGCAGGTGAAGCAGTTTTTATTGATACAGAGGGAAGTTTTATGGTTGATAGAGTGGTAGACCTTGCTACTGCCTGCATTCAGCACCTTCAGCTTATAGCAGAAAAACACAAGGGAGAGGGTAAGTTAGTAAATGATCTTCTTTTTTTCTGTATTAATAAAAGTAATTTGCATTTGTGCCCATCTGAGACCTCAGCAACACTCCATTTGGAATGTGAAGCCTAATTACTGGACAGTTAACTAGTGTTAAACTCTTTTACTACTGTTACAAAATGAGAAATGCCACAGCCTGGACTGGCTTTTTTTTGTTCCCCTTTTATGGCCCTCACTTCTTCNNNN | pathogenic | 279,673 |
Determine whether the variant at chromosome 17, position 58695027, in gene RAD51C (RAD51 paralog C) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Fanconi_anemia_complementation_group_O', 'Hereditary_cancer-predisposing_syndrome'] | TGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTTCTGTTCAGCACTAGATGATATTCTTGGGGGTGGAGTGCCCTTAATGAAAACAACAGAAATTTGTGGTGCACCAGGTGTTGGAAAAACACAATTATGGTAAAATAAAGTGTTCTCCTTTTAAGGGTGGGTTTAATAACATATTATGAAAGTAGTATTTTGTACTATCGTCAGGAAACCAAATAAGATATATATGTGCTCTTAATTTTAAGTGTGTATGTGCATTAAACAAAAATTAGCTTACTATTTGTGTTACTTCATTATCCCTTCTTGATAAATGTATGCAATTATTCTGATGTGAAAAAGTGTTTCTTTTGCAAATTGTACTGCAGTCATAAGGTTAAACAGGAAGTTTCTGCGTTATTCATTCCTGAGACTATATTTGAAAGTCAGATGTTTGAAAGTAGATTTATGGCTAGGGGTAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGGCCTGCCTGGGCAACATAGTGAGACCTCGTCTCTACTAAAAATGGAAAATTAGCTGAGTGTGGTGGCACATGCCTGTGGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGCCGGGGAGGTCAAAACTGCAGTGAGCCTTAATCACATCACTGGGCAGCAGAGTGAGACCCTATCTCAAAAAAAAAAGAGGCCGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGTCAACATGGCGAAACCCCATCTCTACTAAAAATAAAAAAATTAGCCAGGCATGGTGGTTCACGCCTATAGTCTCAGCTCCTCGGGAGGCTGAGGCAGGAGAATCGCTTGTACTTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCTTGGGTGACAGAGCAAGACTCTGTCTCAAAAGAAAAAAAAAAAAGGTAGATTTATGTATAATAAGGGGCTCCATTTTGAGAGGCCTGGAAATGATTAAAATATTCTTAATTGGCTGGGCGCAGTGGCTGACGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAAATACAAAGAATTAGCCGGGCGTGGTGGCGGGTGCTTGTAGTCCTAGCTACTCGGGCAGCTGAGGCAGGAGAATGGCGTAAACCTGGGAGGCGGAGCTTGCAGTGAGCCTGGATCACGTCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAACATAAATAAAATAAAATAAAATATCCTTAATCTTGGTTTTATAGGCATGCCCTCCCCGAATCCAGTTGATTTACATATAGTCGATTGGTTCACATTATATCTGGAGTCATGAAGAGTTAGACATTTCTGTTGCCTTGGGGAGTATATTTACATTTATAAAACTTTAGTGATACCTAACTTGTCATTATCTGGAGTTCAAAAACACTACCTTAGATCATCATCATGATTTGGTTGTTTGTCATCTTTCTGTTGACAGTATGCAGTTGGCAGTAGATGTGCAGATACCAGAATGTTTTGGAGGAGTGGCAGGTGAAGCAGTTTTTATTGATACAGAGGGAAGTTTTATGGTTGATAGAGTGGTAGACCTTGCTACTGCCTGCATTCAGCACCTTCAGCTTATAGCAGAAAAACACAAGGGAGAGGGTAAGTTAGTAAATGATCTTCTTTTTTTCTGTATTAATAAAAGTAATTTGCATTTGTGCCCATCTGAGACCTCAGCAACACTCCATTTGGAATGTGAAGCCTAATTACTGGACAGTTAACTAGTGTTAAACTCTTTTACTACTGTTACAAAATGAGAAATGCCACAGCCTGGACTGGCTTTTTTTTGTTCCCCTTTTATGGCCCTCACTTCTTCC | TGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACAGATGTACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTTCTGTTCAGCACTAGATGATATTCTTGGGGGTGGAGTGCCCTTAATGAAAACAACAGAAATTTGTGGTGCACCAGGTGTTGGAAAAACACAATTATGGTAAAATAAAGTGTTCTCCTTTTAAGGGTGGGTTTAATAACATATTATGAAAGTAGTATTTTGTACTATCGTCAGGAAACCAAATAAGATATATATGTGCTCTTAATTTTAAGTGTGTATGTGCATTAAACAAAAATTAGCTTACTATTTGTGTTACTTCATTATCCCTTCTTGATAAATGTATGCAATTATTCTGATGTGAAAAAGTGTTTCTTTTGCAAATTGTACTGCAGTCATAAGGTTAAACAGGAAGTTTCTGCGTTATTCATTCCTGAGACTATATTTGAAAGTCAGATGTTTGAAAGTAGATTTATGGCTAGGGGTAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGGCCTGCCTGGGCAACATAGTGAGACCTCGTCTCTACTAAAAATGGAAAATTAGCTGAGTGTGGTGGCACATGCCTGTGGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGCCGGGGAGGTCAAAACTGCAGTGAGCCTTAATCACATCACTGGGCAGCAGAGTGAGACCCTATCTCAAAAAAAAAAGAGGCCGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGTCAACATGGCGAAACCCCATCTCTACTAAAAATAAAAAAATTAGCCAGGCATGGTGGTTCACGCCTATAGTCTCAGCTCCTCGGGAGGCTGAGGCAGGAGAATCGCTTGTACTTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCTTGGGTGACAGAGCAAGACTCTGTCTCAAAAGAAAAAAAAAAAAGGTAGATTTATGTATAATAAGGGGCTCCATTTTGAGAGGCCTGGAAATGATTAAAATATTCTTAATTGGCTGGGCGCAGTGGCTGACGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAAATACAAAGAATTAGCCGGGCGTGGTGGCGGGTGCTTGTAGTCCTAGCTACTCGGGCAGCTGAGGCAGGAGAATGGCGTAAACCTGGGAGGCGGAGCTTGCAGTGAGCCTGGATCACGTCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAACATAAATAAAATAAAATAAAATATCCTTAATCTTGGTTTTATAGGCATGCCCTCCCCGAATCCAGTTGATTTACATATAGTCGATTGGTTCACATTATATCTGGAGTCATGAAGAGTTAGACATTTCTGTTGCCTTGGGGAGTATATTTACATTTATAAAACTTTAGTGATACCTAACTTGTCATTATCTGGAGTTCAAAAACACTACCTTAGATCATCATCATGATTTGGTTGTTTGTCATCTTTCTGTTGACAGTATGCAGTTGGCAGTAGATGTGCAGATACCAGAATGTTTTGGAGGAGTGGCAGGTGAAGCAGTTTTTATTGATACAGAGGGAAGTTTTATGGTTGATAGAGTGGTAGACCTTGCTACTGCCTGCATTCAGCACCTTCAGCTTATAGCAGAAAAACACAAGGGAGAGGGTAAGTTAGTAAATGATCTTCTTTTTTTCTGTATTAATAAAAGTAATTTGCATTTGTGCCCATCTGAGACCTCAGCAACACTCCATTTGGAATGTGAAGCCTAATTACTGGACAGTTAACTAGTGTTAAACTCTTTTACTACTGTTACAAAATGAGAAATGCCACAGCCTGGACTGGCTTTTTTTTGTTCCCCTTTTATGGCCCTCA | pathogenic | 279,674 |
Variant in gene RAD51C (RAD51 paralog C), located at chromosome 17 position 58695046: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Fanconi_anemia_complementation_group_O', 'Hereditary_cancer-predisposing_syndrome'] | CTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTTCTGTTCAGCACTAGATGATATTCTTGGGGGTGGAGTGCCCTTAATGAAAACAACAGAAATTTGTGGTGCACCAGGTGTTGGAAAAACACAATTATGGTAAAATAAAGTGTTCTCCTTTTAAGGGTGGGTTTAATAACATATTATGAAAGTAGTATTTTGTACTATCGTCAGGAAACCAAATAAGATATATATGTGCTCTTAATTTTAAGTGTGTATGTGCATTAAACAAAAATTAGCTTACTATTTGTGTTACTTCATTATCCCTTCTTGATAAATGTATGCAATTATTCTGATGTGAAAAAGTGTTTCTTTTGCAAATTGTACTGCAGTCATAAGGTTAAACAGGAAGTTTCTGCGTTATTCATTCCTGAGACTATATTTGAAAGTCAGATGTTTGAAAGTAGATTTATGGCTAGGGGTAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGGCCTGCCTGGGCAACATAGTGAGACCTCGTCTCTACTAAAAATGGAAAATTAGCTGAGTGTGGTGGCACATGCCTGTGGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGCCGGGGAGGTCAAAACTGCAGTGAGCCTTAATCACATCACTGGGCAGCAGAGTGAGACCCTATCTCAAAAAAAAAAGAGGCCGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGTCAACATGGCGAAACCCCATCTCTACTAAAAATAAAAAAATTAGCCAGGCATGGTGGTTCACGCCTATAGTCTCAGCTCCTCGGGAGGCTGAGGCAGGAGAATCGCTTGTACTTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCTTGGGTGACAGAGCAAGACTCTGTCTCAAAAGAAAAAAAAAAAAGGTAGATTTATGTATAATAAGGGGCTCCATTTTGAGAGGCCTGGAAATGATTAAAATATTCTTAATTGGCTGGGCGCAGTGGCTGACGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAAATACAAAGAATTAGCCGGGCGTGGTGGCGGGTGCTTGTAGTCCTAGCTACTCGGGCAGCTGAGGCAGGAGAATGGCGTAAACCTGGGAGGCGGAGCTTGCAGTGAGCCTGGATCACGTCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAACATAAATAAAATAAAATAAAATATCCTTAATCTTGGTTTTATAGGCATGCCCTCCCCGAATCCAGTTGATTTACATATAGTCGATTGGTTCACATTATATCTGGAGTCATGAAGAGTTAGACATTTCTGTTGCCTTGGGGAGTATATTTACATTTATAAAACTTTAGTGATACCTAACTTGTCATTATCTGGAGTTCAAAAACACTACCTTAGATCATCATCATGATTTGGTTGTTTGTCATCTTTCTGTTGACAGTATGCAGTTGGCAGTAGATGTGCAGATACCAGAATGTTTTGGAGGAGTGGCAGGTGAAGCAGTTTTTATTGATACAGAGGGAAGTTTTATGGTTGATAGAGTGGTAGACCTTGCTACTGCCTGCATTCAGCACCTTCAGCTTATAGCAGAAAAACACAAGGGAGAGGGTAAGTTAGTAAATGATCTTCTTTTTTTCTGTATTAATAAAAGTAATTTGCATTTGTGCCCATCTGAGACCTCAGCAACACTCCATTTGGAATGTGAAGCCTAATTACTGGACAGTTAACTAGTGTTAAACTCTTTTACTACTGTTACAAAATGAGAAATGCCACAGCCTGGACTGGCTTTTTTTTGTTCCCCTTTTATGGCCCTCACTTCTTCCTGTAGGAGCTTTGGGACAA | CTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCAGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTTCTGTTCAGCACTAGATGATATTCTTGGGGGTGGAGTGCCCTTAATGAAAACAACAGAAATTTGTGGTGCACCAGGTGTTGGAAAAACACAATTATGGTAAAATAAAGTGTTCTCCTTTTAAGGGTGGGTTTAATAACATATTATGAAAGTAGTATTTTGTACTATCGTCAGGAAACCAAATAAGATATATATGTGCTCTTAATTTTAAGTGTGTATGTGCATTAAACAAAAATTAGCTTACTATTTGTGTTACTTCATTATCCCTTCTTGATAAATGTATGCAATTATTCTGATGTGAAAAAGTGTTTCTTTTGCAAATTGTACTGCAGTCATAAGGTTAAACAGGAAGTTTCTGCGTTATTCATTCCTGAGACTATATTTGAAAGTCAGATGTTTGAAAGTAGATTTATGGCTAGGGGTAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGGCCTGCCTGGGCAACATAGTGAGACCTCGTCTCTACTAAAAATGGAAAATTAGCTGAGTGTGGTGGCACATGCCTGTGGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGCCGGGGAGGTCAAAACTGCAGTGAGCCTTAATCACATCACTGGGCAGCAGAGTGAGACCCTATCTCAAAAAAAAAAGAGGCCGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGTCAACATGGCGAAACCCCATCTCTACTAAAAATAAAAAAATTAGCCAGGCATGGTGGTTCACGCCTATAGTCTCAGCTCCTCGGGAGGCTGAGGCAGGAGAATCGCTTGTACTTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCTTGGGTGACAGAGCAAGACTCTGTCTCAAAAGAAAAAAAAAAAAGGTAGATTTATGTATAATAAGGGGCTCCATTTTGAGAGGCCTGGAAATGATTAAAATATTCTTAATTGGCTGGGCGCAGTGGCTGACGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAAATACAAAGAATTAGCCGGGCGTGGTGGCGGGTGCTTGTAGTCCTAGCTACTCGGGCAGCTGAGGCAGGAGAATGGCGTAAACCTGGGAGGCGGAGCTTGCAGTGAGCCTGGATCACGTCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAACATAAATAAAATAAAATAAAATATCCTTAATCTTGGTTTTATAGGCATGCCCTCCCCGAATCCAGTTGATTTACATATAGTCGATTGGTTCACATTATATCTGGAGTCATGAAGAGTTAGACATTTCTGTTGCCTTGGGGAGTATATTTACATTTATAAAACTTTAGTGATACCTAACTTGTCATTATCTGGAGTTCAAAAACACTACCTTAGATCATCATCATGATTTGGTTGTTTGTCATCTTTCTGTTGACAGTATGCAGTTGGCAGTAGATGTGCAGATACCAGAATGTTTTGGAGGAGTGGCAGGTGAAGCAGTTTTTATTGATACAGAGGGAAGTTTTATGGTTGATAGAGTGGTAGACCTTGCTACTGCCTGCATTCAGCACCTTCAGCTTATAGCAGAAAAACACAAGGGAGAGGGTAAGTTAGTAAATGATCTTCTTTTTTTCTGTATTAATAAAAGTAATTTGCATTTGTGCCCATCTGAGACCTCAGCAACACTCCATTTGGAATGTGAAGCCTAATTACTGGACAGTTAACTAGTGTTAAACTCTTTTACTACTGTTACAAAATGAGAAATGCCACAGCCTGGACTGGCTTTTTTTTGTTCCCCTTTTATGGCCCTCACTTCTTCCTGTAGGAGCTTTGGGACAANN | pathogenic | 279,679 |
Considering the genetic mutation at chromosome 17, position 58695084, impacting RAD51C (RAD51 paralog C): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Hereditary_cancer-predisposing_syndrome'] | TGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTTCTGTTCAGCACTAGATGATATTCTTGGGGGTGGAGTGCCCTTAATGAAAACAACAGAAATTTGTGGTGCACCAGGTGTTGGAAAAACACAATTATGGTAAAATAAAGTGTTCTCCTTTTAAGGGTGGGTTTAATAACATATTATGAAAGTAGTATTTTGTACTATCGTCAGGAAACCAAATAAGATATATATGTGCTCTTAATTTTAAGTGTGTATGTGCATTAAACAAAAATTAGCTTACTATTTGTGTTACTTCATTATCCCTTCTTGATAAATGTATGCAATTATTCTGATGTGAAAAAGTGTTTCTTTTGCAAATTGTACTGCAGTCATAAGGTTAAACAGGAAGTTTCTGCGTTATTCATTCCTGAGACTATATTTGAAAGTCAGATGTTTGAAAGTAGATTTATGGCTAGGGGTAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGGCCTGCCTGGGCAACATAGTGAGACCTCGTCTCTACTAAAAATGGAAAATTAGCTGAGTGTGGTGGCACATGCCTGTGGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGCCGGGGAGGTCAAAACTGCAGTGAGCCTTAATCACATCACTGGGCAGCAGAGTGAGACCCTATCTCAAAAAAAAAAGAGGCCGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGTCAACATGGCGAAACCCCATCTCTACTAAAAATAAAAAAATTAGCCAGGCATGGTGGTTCACGCCTATAGTCTCAGCTCCTCGGGAGGCTGAGGCAGGAGAATCGCTTGTACTTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCTTGGGTGACAGAGCAAGACTCTGTCTCAAAAGAAAAAAAAAAAAGGTAGATTTATGTATAATAAGGGGCTCCATTTTGAGAGGCCTGGAAATGATTAAAATATTCTTAATTGGCTGGGCGCAGTGGCTGACGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAAATACAAAGAATTAGCCGGGCGTGGTGGCGGGTGCTTGTAGTCCTAGCTACTCGGGCAGCTGAGGCAGGAGAATGGCGTAAACCTGGGAGGCGGAGCTTGCAGTGAGCCTGGATCACGTCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAACATAAATAAAATAAAATAAAATATCCTTAATCTTGGTTTTATAGGCATGCCCTCCCCGAATCCAGTTGATTTACATATAGTCGATTGGTTCACATTATATCTGGAGTCATGAAGAGTTAGACATTTCTGTTGCCTTGGGGAGTATATTTACATTTATAAAACTTTAGTGATACCTAACTTGTCATTATCTGGAGTTCAAAAACACTACCTTAGATCATCATCATGATTTGGTTGTTTGTCATCTTTCTGTTGACAGTATGCAGTTGGCAGTAGATGTGCAGATACCAGAATGTTTTGGAGGAGTGGCAGGTGAAGCAGTTTTTATTGATACAGAGGGAAGTTTTATGGTTGATAGAGTGGTAGACCTTGCTACTGCCTGCATTCAGCACCTTCAGCTTATAGCAGAAAAACACAAGGGAGAGGGTAAGTTAGTAAATGATCTTCTTTTTTTCTGTATTAATAAAAGTAATTTGCATTTGTGCCCATCTGAGACCTCAGCAACACTCCATTTGGAATGTGAAGCCTAATTACTGGACAGTTAACTAGTGTTAAACTCTTTTACTACTGTTACAAAATGAGAAATGCCACAGCCTGGACTGGCTTTTTTTTGTTCCCCTTTTATGGCCCTCACTTCTTCCTGTAGGAGCTTTGGGACAAAACCTATGTATGTATTTCAGTCATCATACTCCATCTTA | TGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAAATCACCTTCTGTTCAGCACTAGATGATATTCTTGGGGGTGGAGTGCCCTTAATGAAAACAACAGAAATTTGTGGTGCACCAGGTGTTGGAAAAACACAATTATGGTAAAATAAAGTGTTCTCCTTTTAAGGGTGGGTTTAATAACATATTATGAAAGTAGTATTTTGTACTATCGTCAGGAAACCAAATAAGATATATATGTGCTCTTAATTTTAAGTGTGTATGTGCATTAAACAAAAATTAGCTTACTATTTGTGTTACTTCATTATCCCTTCTTGATAAATGTATGCAATTATTCTGATGTGAAAAAGTGTTTCTTTTGCAAATTGTACTGCAGTCATAAGGTTAAACAGGAAGTTTCTGCGTTATTCATTCCTGAGACTATATTTGAAAGTCAGATGTTTGAAAGTAGATTTATGGCTAGGGGTAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGGCCTGCCTGGGCAACATAGTGAGACCTCGTCTCTACTAAAAATGGAAAATTAGCTGAGTGTGGTGGCACATGCCTGTGGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGCCGGGGAGGTCAAAACTGCAGTGAGCCTTAATCACATCACTGGGCAGCAGAGTGAGACCCTATCTCAAAAAAAAAAGAGGCCGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGTCAACATGGCGAAACCCCATCTCTACTAAAAATAAAAAAATTAGCCAGGCATGGTGGTTCACGCCTATAGTCTCAGCTCCTCGGGAGGCTGAGGCAGGAGAATCGCTTGTACTTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCTTGGGTGACAGAGCAAGACTCTGTCTCAAAAGAAAAAAAAAAAAGGTAGATTTATGTATAATAAGGGGCTCCATTTTGAGAGGCCTGGAAATGATTAAAATATTCTTAATTGGCTGGGCGCAGTGGCTGACGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAAATACAAAGAATTAGCCGGGCGTGGTGGCGGGTGCTTGTAGTCCTAGCTACTCGGGCAGCTGAGGCAGGAGAATGGCGTAAACCTGGGAGGCGGAGCTTGCAGTGAGCCTGGATCACGTCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAACATAAATAAAATAAAATAAAATATCCTTAATCTTGGTTTTATAGGCATGCCCTCCCCGAATCCAGTTGATTTACATATAGTCGATTGGTTCACATTATATCTGGAGTCATGAAGAGTTAGACATTTCTGTTGCCTTGGGGAGTATATTTACATTTATAAAACTTTAGTGATACCTAACTTGTCATTATCTGGAGTTCAAAAACACTACCTTAGATCATCATCATGATTTGGTTGTTTGTCATCTTTCTGTTGACAGTATGCAGTTGGCAGTAGATGTGCAGATACCAGAATGTTTTGGAGGAGTGGCAGGTGAAGCAGTTTTTATTGATACAGAGGGAAGTTTTATGGTTGATAGAGTGGTAGACCTTGCTACTGCCTGCATTCAGCACCTTCAGCTTATAGCAGAAAAACACAAGGGAGAGGGTAAGTTAGTAAATGATCTTCTTTTTTTCTGTATTAATAAAAGTAATTTGCATTTGTGCCCATCTGAGACCTCAGCAACACTCCATTTGGAATGTGAAGCCTAATTACTGGACAGTTAACTAGTGTTAAACTCTTTTACTACTGTTACAAAATGAGAAATGCCACAGCCTGGACTGGCTTTTTTTTGTTCCCCTTTTATGGCCCTCACTTCTTCCTGTAGGAGCTTTGGGACAAAACCTATGTATGTATTTCAGTCATCATACTCCATCTT | pathogenic | 279,691 |
Gene RAD51C (RAD51 paralog C) variant at chromosome position 58695098 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Fanconi_anemia_complementation_group_O'] | CTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTTCTGTTCAGCACTAGATGATATTCTTGGGGGTGGAGTGCCCTTAATGAAAACAACAGAAATTTGTGGTGCACCAGGTGTTGGAAAAACACAATTATGGTAAAATAAAGTGTTCTCCTTTTAAGGGTGGGTTTAATAACATATTATGAAAGTAGTATTTTGTACTATCGTCAGGAAACCAAATAAGATATATATGTGCTCTTAATTTTAAGTGTGTATGTGCATTAAACAAAAATTAGCTTACTATTTGTGTTACTTCATTATCCCTTCTTGATAAATGTATGCAATTATTCTGATGTGAAAAAGTGTTTCTTTTGCAAATTGTACTGCAGTCATAAGGTTAAACAGGAAGTTTCTGCGTTATTCATTCCTGAGACTATATTTGAAAGTCAGATGTTTGAAAGTAGATTTATGGCTAGGGGTAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGGCCTGCCTGGGCAACATAGTGAGACCTCGTCTCTACTAAAAATGGAAAATTAGCTGAGTGTGGTGGCACATGCCTGTGGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGCCGGGGAGGTCAAAACTGCAGTGAGCCTTAATCACATCACTGGGCAGCAGAGTGAGACCCTATCTCAAAAAAAAAAGAGGCCGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGTCAACATGGCGAAACCCCATCTCTACTAAAAATAAAAAAATTAGCCAGGCATGGTGGTTCACGCCTATAGTCTCAGCTCCTCGGGAGGCTGAGGCAGGAGAATCGCTTGTACTTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCTTGGGTGACAGAGCAAGACTCTGTCTCAAAAGAAAAAAAAAAAAGGTAGATTTATGTATAATAAGGGGCTCCATTTTGAGAGGCCTGGAAATGATTAAAATATTCTTAATTGGCTGGGCGCAGTGGCTGACGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAAATACAAAGAATTAGCCGGGCGTGGTGGCGGGTGCTTGTAGTCCTAGCTACTCGGGCAGCTGAGGCAGGAGAATGGCGTAAACCTGGGAGGCGGAGCTTGCAGTGAGCCTGGATCACGTCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAACATAAATAAAATAAAATAAAATATCCTTAATCTTGGTTTTATAGGCATGCCCTCCCCGAATCCAGTTGATTTACATATAGTCGATTGGTTCACATTATATCTGGAGTCATGAAGAGTTAGACATTTCTGTTGCCTTGGGGAGTATATTTACATTTATAAAACTTTAGTGATACCTAACTTGTCATTATCTGGAGTTCAAAAACACTACCTTAGATCATCATCATGATTTGGTTGTTTGTCATCTTTCTGTTGACAGTATGCAGTTGGCAGTAGATGTGCAGATACCAGAATGTTTTGGAGGAGTGGCAGGTGAAGCAGTTTTTATTGATACAGAGGGAAGTTTTATGGTTGATAGAGTGGTAGACCTTGCTACTGCCTGCATTCAGCACCTTCAGCTTATAGCAGAAAAACACAAGGGAGAGGGTAAGTTAGTAAATGATCTTCTTTTTTTCTGTATTAATAAAAGTAATTTGCATTTGTGCCCATCTGAGACCTCAGCAACACTCCATTTGGAATGTGAAGCCTAATTACTGGACAGTTAACTAGTGTTAAACTCTTTTACTACTGTTACAAAATGAGAAATGCCACAGCCTGGACTGGCTTTTTTTTGTTCCCCTTTTATGGCCCTCACTTCTTCCTGTAGGAGCTTTGGGACAAAACCTATGTATGTATTTCAGTCATCATACTCCATCTTATCAGGTGTAAGTTA | CTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTTCTGTTACAGCACTAGATGATATTCTTGGGGGTGGAGTGCCCTTAATGAAAACAACAGAAATTTGTGGTGCACCAGGTGTTGGAAAAACACAATTATGGTAAAATAAAGTGTTCTCCTTTTAAGGGTGGGTTTAATAACATATTATGAAAGTAGTATTTTGTACTATCGTCAGGAAACCAAATAAGATATATATGTGCTCTTAATTTTAAGTGTGTATGTGCATTAAACAAAAATTAGCTTACTATTTGTGTTACTTCATTATCCCTTCTTGATAAATGTATGCAATTATTCTGATGTGAAAAAGTGTTTCTTTTGCAAATTGTACTGCAGTCATAAGGTTAAACAGGAAGTTTCTGCGTTATTCATTCCTGAGACTATATTTGAAAGTCAGATGTTTGAAAGTAGATTTATGGCTAGGGGTAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGGCCTGCCTGGGCAACATAGTGAGACCTCGTCTCTACTAAAAATGGAAAATTAGCTGAGTGTGGTGGCACATGCCTGTGGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGCCGGGGAGGTCAAAACTGCAGTGAGCCTTAATCACATCACTGGGCAGCAGAGTGAGACCCTATCTCAAAAAAAAAAGAGGCCGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGTCAACATGGCGAAACCCCATCTCTACTAAAAATAAAAAAATTAGCCAGGCATGGTGGTTCACGCCTATAGTCTCAGCTCCTCGGGAGGCTGAGGCAGGAGAATCGCTTGTACTTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCTTGGGTGACAGAGCAAGACTCTGTCTCAAAAGAAAAAAAAAAAAGGTAGATTTATGTATAATAAGGGGCTCCATTTTGAGAGGCCTGGAAATGATTAAAATATTCTTAATTGGCTGGGCGCAGTGGCTGACGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAAATACAAAGAATTAGCCGGGCGTGGTGGCGGGTGCTTGTAGTCCTAGCTACTCGGGCAGCTGAGGCAGGAGAATGGCGTAAACCTGGGAGGCGGAGCTTGCAGTGAGCCTGGATCACGTCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAACATAAATAAAATAAAATAAAATATCCTTAATCTTGGTTTTATAGGCATGCCCTCCCCGAATCCAGTTGATTTACATATAGTCGATTGGTTCACATTATATCTGGAGTCATGAAGAGTTAGACATTTCTGTTGCCTTGGGGAGTATATTTACATTTATAAAACTTTAGTGATACCTAACTTGTCATTATCTGGAGTTCAAAAACACTACCTTAGATCATCATCATGATTTGGTTGTTTGTCATCTTTCTGTTGACAGTATGCAGTTGGCAGTAGATGTGCAGATACCAGAATGTTTTGGAGGAGTGGCAGGTGAAGCAGTTTTTATTGATACAGAGGGAAGTTTTATGGTTGATAGAGTGGTAGACCTTGCTACTGCCTGCATTCAGCACCTTCAGCTTATAGCAGAAAAACACAAGGGAGAGGGTAAGTTAGTAAATGATCTTCTTTTTTTCTGTATTAATAAAAGTAATTTGCATTTGTGCCCATCTGAGACCTCAGCAACACTCCATTTGGAATGTGAAGCCTAATTACTGGACAGTTAACTAGTGTTAAACTCTTTTACTACTGTTACAAAATGAGAAATGCCACAGCCTGGACTGGCTTTTTTTTGTTCCCCTTTTATGGCCCTCACTTCTTCCTGTAGGAGCTTTGGGACAAAACCTATGTATGTATTTCAGTCATCATACTCCATCTTATCAGGTGTAAGTT | pathogenic | 279,694 |
The mutation in gene RAD51C (RAD51 paralog C) at chromosome 17, position 58695118—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Fanconi_anemia_complementation_group_O', 'Hereditary_cancer-predisposing_syndrome'] | TATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTTCTGTTCAGCACTAGATGATATTCTTGGGGGTGGAGTGCCCTTAATGAAAACAACAGAAATTTGTGGTGCACCAGGTGTTGGAAAAACACAATTATGGTAAAATAAAGTGTTCTCCTTTTAAGGGTGGGTTTAATAACATATTATGAAAGTAGTATTTTGTACTATCGTCAGGAAACCAAATAAGATATATATGTGCTCTTAATTTTAAGTGTGTATGTGCATTAAACAAAAATTAGCTTACTATTTGTGTTACTTCATTATCCCTTCTTGATAAATGTATGCAATTATTCTGATGTGAAAAAGTGTTTCTTTTGCAAATTGTACTGCAGTCATAAGGTTAAACAGGAAGTTTCTGCGTTATTCATTCCTGAGACTATATTTGAAAGTCAGATGTTTGAAAGTAGATTTATGGCTAGGGGTAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGGCCTGCCTGGGCAACATAGTGAGACCTCGTCTCTACTAAAAATGGAAAATTAGCTGAGTGTGGTGGCACATGCCTGTGGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGCCGGGGAGGTCAAAACTGCAGTGAGCCTTAATCACATCACTGGGCAGCAGAGTGAGACCCTATCTCAAAAAAAAAAGAGGCCGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGTCAACATGGCGAAACCCCATCTCTACTAAAAATAAAAAAATTAGCCAGGCATGGTGGTTCACGCCTATAGTCTCAGCTCCTCGGGAGGCTGAGGCAGGAGAATCGCTTGTACTTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCTTGGGTGACAGAGCAAGACTCTGTCTCAAAAGAAAAAAAAAAAAGGTAGATTTATGTATAATAAGGGGCTCCATTTTGAGAGGCCTGGAAATGATTAAAATATTCTTAATTGGCTGGGCGCAGTGGCTGACGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAAATACAAAGAATTAGCCGGGCGTGGTGGCGGGTGCTTGTAGTCCTAGCTACTCGGGCAGCTGAGGCAGGAGAATGGCGTAAACCTGGGAGGCGGAGCTTGCAGTGAGCCTGGATCACGTCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAACATAAATAAAATAAAATAAAATATCCTTAATCTTGGTTTTATAGGCATGCCCTCCCCGAATCCAGTTGATTTACATATAGTCGATTGGTTCACATTATATCTGGAGTCATGAAGAGTTAGACATTTCTGTTGCCTTGGGGAGTATATTTACATTTATAAAACTTTAGTGATACCTAACTTGTCATTATCTGGAGTTCAAAAACACTACCTTAGATCATCATCATGATTTGGTTGTTTGTCATCTTTCTGTTGACAGTATGCAGTTGGCAGTAGATGTGCAGATACCAGAATGTTTTGGAGGAGTGGCAGGTGAAGCAGTTTTTATTGATACAGAGGGAAGTTTTATGGTTGATAGAGTGGTAGACCTTGCTACTGCCTGCATTCAGCACCTTCAGCTTATAGCAGAAAAACACAAGGGAGAGGGTAAGTTAGTAAATGATCTTCTTTTTTTCTGTATTAATAAAAGTAATTTGCATTTGTGCCCATCTGAGACCTCAGCAACACTCCATTTGGAATGTGAAGCCTAATTACTGGACAGTTAACTAGTGTTAAACTCTTTTACTACTGTTACAAAATGAGAAATGCCACAGCCTGGACTGGCTTTTTTTTGTTCCCCTTTTATGGCCCTCACTTCTTCCTGTAGGAGCTTTGGGACAAAACCTATGTATGTATTTCAGTCATCATACTCCATCTTATCAGGTGTAAGTTAACGGTGCCGGACACCTTAAT | TATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTTCTGTTCAGCACTAGATGATATTCTTGGGGTGGAGTGCCCTTAATGAAAACAACAGAAATTTGTGGTGCACCAGGTGTTGGAAAAACACAATTATGGTAAAATAAAGTGTTCTCCTTTTAAGGGTGGGTTTAATAACATATTATGAAAGTAGTATTTTGTACTATCGTCAGGAAACCAAATAAGATATATATGTGCTCTTAATTTTAAGTGTGTATGTGCATTAAACAAAAATTAGCTTACTATTTGTGTTACTTCATTATCCCTTCTTGATAAATGTATGCAATTATTCTGATGTGAAAAAGTGTTTCTTTTGCAAATTGTACTGCAGTCATAAGGTTAAACAGGAAGTTTCTGCGTTATTCATTCCTGAGACTATATTTGAAAGTCAGATGTTTGAAAGTAGATTTATGGCTAGGGGTAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGGCCTGCCTGGGCAACATAGTGAGACCTCGTCTCTACTAAAAATGGAAAATTAGCTGAGTGTGGTGGCACATGCCTGTGGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGCCGGGGAGGTCAAAACTGCAGTGAGCCTTAATCACATCACTGGGCAGCAGAGTGAGACCCTATCTCAAAAAAAAAAGAGGCCGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGTCAACATGGCGAAACCCCATCTCTACTAAAAATAAAAAAATTAGCCAGGCATGGTGGTTCACGCCTATAGTCTCAGCTCCTCGGGAGGCTGAGGCAGGAGAATCGCTTGTACTTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCTTGGGTGACAGAGCAAGACTCTGTCTCAAAAGAAAAAAAAAAAAGGTAGATTTATGTATAATAAGGGGCTCCATTTTGAGAGGCCTGGAAATGATTAAAATATTCTTAATTGGCTGGGCGCAGTGGCTGACGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAAATACAAAGAATTAGCCGGGCGTGGTGGCGGGTGCTTGTAGTCCTAGCTACTCGGGCAGCTGAGGCAGGAGAATGGCGTAAACCTGGGAGGCGGAGCTTGCAGTGAGCCTGGATCACGTCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAACATAAATAAAATAAAATAAAATATCCTTAATCTTGGTTTTATAGGCATGCCCTCCCCGAATCCAGTTGATTTACATATAGTCGATTGGTTCACATTATATCTGGAGTCATGAAGAGTTAGACATTTCTGTTGCCTTGGGGAGTATATTTACATTTATAAAACTTTAGTGATACCTAACTTGTCATTATCTGGAGTTCAAAAACACTACCTTAGATCATCATCATGATTTGGTTGTTTGTCATCTTTCTGTTGACAGTATGCAGTTGGCAGTAGATGTGCAGATACCAGAATGTTTTGGAGGAGTGGCAGGTGAAGCAGTTTTTATTGATACAGAGGGAAGTTTTATGGTTGATAGAGTGGTAGACCTTGCTACTGCCTGCATTCAGCACCTTCAGCTTATAGCAGAAAAACACAAGGGAGAGGGTAAGTTAGTAAATGATCTTCTTTTTTTCTGTATTAATAAAAGTAATTTGCATTTGTGCCCATCTGAGACCTCAGCAACACTCCATTTGGAATGTGAAGCCTAATTACTGGACAGTTAACTAGTGTTAAACTCTTTTACTACTGTTACAAAATGAGAAATGCCACAGCCTGGACTGGCTTTTTTTTGTTCCCCTTTTATGGCCCTCACTTCTTCCTGTAGGAGCTTTGGGACAAAACCTATGTATGTATTTCAGTCATCATACTCCATCTTATCAGGTGTAAGTTAACGGTGCCGGACACCTTAATN | pathogenic | 279,698 |
Chromosome 17, position 58695139, gene RAD51C (RAD51 paralog C): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Fanconi_anemia_complementation_group_O'] | GAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTTCTGTTCAGCACTAGATGATATTCTTGGGGGTGGAGTGCCCTTAATGAAAACAACAGAAATTTGTGGTGCACCAGGTGTTGGAAAAACACAATTATGGTAAAATAAAGTGTTCTCCTTTTAAGGGTGGGTTTAATAACATATTATGAAAGTAGTATTTTGTACTATCGTCAGGAAACCAAATAAGATATATATGTGCTCTTAATTTTAAGTGTGTATGTGCATTAAACAAAAATTAGCTTACTATTTGTGTTACTTCATTATCCCTTCTTGATAAATGTATGCAATTATTCTGATGTGAAAAAGTGTTTCTTTTGCAAATTGTACTGCAGTCATAAGGTTAAACAGGAAGTTTCTGCGTTATTCATTCCTGAGACTATATTTGAAAGTCAGATGTTTGAAAGTAGATTTATGGCTAGGGGTAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGGCCTGCCTGGGCAACATAGTGAGACCTCGTCTCTACTAAAAATGGAAAATTAGCTGAGTGTGGTGGCACATGCCTGTGGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGCCGGGGAGGTCAAAACTGCAGTGAGCCTTAATCACATCACTGGGCAGCAGAGTGAGACCCTATCTCAAAAAAAAAAGAGGCCGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGTCAACATGGCGAAACCCCATCTCTACTAAAAATAAAAAAATTAGCCAGGCATGGTGGTTCACGCCTATAGTCTCAGCTCCTCGGGAGGCTGAGGCAGGAGAATCGCTTGTACTTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCTTGGGTGACAGAGCAAGACTCTGTCTCAAAAGAAAAAAAAAAAAGGTAGATTTATGTATAATAAGGGGCTCCATTTTGAGAGGCCTGGAAATGATTAAAATATTCTTAATTGGCTGGGCGCAGTGGCTGACGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAAATACAAAGAATTAGCCGGGCGTGGTGGCGGGTGCTTGTAGTCCTAGCTACTCGGGCAGCTGAGGCAGGAGAATGGCGTAAACCTGGGAGGCGGAGCTTGCAGTGAGCCTGGATCACGTCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAACATAAATAAAATAAAATAAAATATCCTTAATCTTGGTTTTATAGGCATGCCCTCCCCGAATCCAGTTGATTTACATATAGTCGATTGGTTCACATTATATCTGGAGTCATGAAGAGTTAGACATTTCTGTTGCCTTGGGGAGTATATTTACATTTATAAAACTTTAGTGATACCTAACTTGTCATTATCTGGAGTTCAAAAACACTACCTTAGATCATCATCATGATTTGGTTGTTTGTCATCTTTCTGTTGACAGTATGCAGTTGGCAGTAGATGTGCAGATACCAGAATGTTTTGGAGGAGTGGCAGGTGAAGCAGTTTTTATTGATACAGAGGGAAGTTTTATGGTTGATAGAGTGGTAGACCTTGCTACTGCCTGCATTCAGCACCTTCAGCTTATAGCAGAAAAACACAAGGGAGAGGGTAAGTTAGTAAATGATCTTCTTTTTTTCTGTATTAATAAAAGTAATTTGCATTTGTGCCCATCTGAGACCTCAGCAACACTCCATTTGGAATGTGAAGCCTAATTACTGGACAGTTAACTAGTGTTAAACTCTTTTACTACTGTTACAAAATGAGAAATGCCACAGCCTGGACTGGCTTTTTTTTGTTCCCCTTTTATGGCCCTCACTTCTTCCTGTAGGAGCTTTGGGACAAAACCTATGTATGTATTTCAGTCATCATACTCCATCTTATCAGGTGTAAGTTAACGGTGCCGGACACCTTAATATAAGCAACTGTTGTTAAATG | GAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTTCTGTTCAGCACTAGATGATATTCTTGGGGGTGGAGTGCCCTTAATGAAAAACAACAGAAATTTGTGGTGCACCAGGTGTTGGAAAAACACAATTATGGTAAAATAAAGTGTTCTCCTTTTAAGGGTGGGTTTAATAACATATTATGAAAGTAGTATTTTGTACTATCGTCAGGAAACCAAATAAGATATATATGTGCTCTTAATTTTAAGTGTGTATGTGCATTAAACAAAAATTAGCTTACTATTTGTGTTACTTCATTATCCCTTCTTGATAAATGTATGCAATTATTCTGATGTGAAAAAGTGTTTCTTTTGCAAATTGTACTGCAGTCATAAGGTTAAACAGGAAGTTTCTGCGTTATTCATTCCTGAGACTATATTTGAAAGTCAGATGTTTGAAAGTAGATTTATGGCTAGGGGTAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGGCCTGCCTGGGCAACATAGTGAGACCTCGTCTCTACTAAAAATGGAAAATTAGCTGAGTGTGGTGGCACATGCCTGTGGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGCCGGGGAGGTCAAAACTGCAGTGAGCCTTAATCACATCACTGGGCAGCAGAGTGAGACCCTATCTCAAAAAAAAAAGAGGCCGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGTCAACATGGCGAAACCCCATCTCTACTAAAAATAAAAAAATTAGCCAGGCATGGTGGTTCACGCCTATAGTCTCAGCTCCTCGGGAGGCTGAGGCAGGAGAATCGCTTGTACTTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCTTGGGTGACAGAGCAAGACTCTGTCTCAAAAGAAAAAAAAAAAAGGTAGATTTATGTATAATAAGGGGCTCCATTTTGAGAGGCCTGGAAATGATTAAAATATTCTTAATTGGCTGGGCGCAGTGGCTGACGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAAATACAAAGAATTAGCCGGGCGTGGTGGCGGGTGCTTGTAGTCCTAGCTACTCGGGCAGCTGAGGCAGGAGAATGGCGTAAACCTGGGAGGCGGAGCTTGCAGTGAGCCTGGATCACGTCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAACATAAATAAAATAAAATAAAATATCCTTAATCTTGGTTTTATAGGCATGCCCTCCCCGAATCCAGTTGATTTACATATAGTCGATTGGTTCACATTATATCTGGAGTCATGAAGAGTTAGACATTTCTGTTGCCTTGGGGAGTATATTTACATTTATAAAACTTTAGTGATACCTAACTTGTCATTATCTGGAGTTCAAAAACACTACCTTAGATCATCATCATGATTTGGTTGTTTGTCATCTTTCTGTTGACAGTATGCAGTTGGCAGTAGATGTGCAGATACCAGAATGTTTTGGAGGAGTGGCAGGTGAAGCAGTTTTTATTGATACAGAGGGAAGTTTTATGGTTGATAGAGTGGTAGACCTTGCTACTGCCTGCATTCAGCACCTTCAGCTTATAGCAGAAAAACACAAGGGAGAGGGTAAGTTAGTAAATGATCTTCTTTTTTTCTGTATTAATAAAAGTAATTTGCATTTGTGCCCATCTGAGACCTCAGCAACACTCCATTTGGAATGTGAAGCCTAATTACTGGACAGTTAACTAGTGTTAAACTCTTTTACTACTGTTACAAAATGAGAAATGCCACAGCCTGGACTGGCTTTTTTTTGTTCCCCTTTTATGGCCCTCACTTCTTCCTGTAGGAGCTTTGGGACAAAACCTATGTATGTATTTCAGTCATCATACTCCATCTTATCAGGTGTAAGTTAACGGTGCCGGACACCTTAATATAAGCAACTGTTGTTAAAT | pathogenic | 279,705 |
Variant at chromosome 17, position 58695148, gene RAD51C (RAD51 paralog C): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Fanconi_anemia_complementation_group_O', 'Hereditary_cancer-predisposing_syndrome'] | GATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTTCTGTTCAGCACTAGATGATATTCTTGGGGGTGGAGTGCCCTTAATGAAAACAACAGAAATTTGTGGTGCACCAGGTGTTGGAAAAACACAATTATGGTAAAATAAAGTGTTCTCCTTTTAAGGGTGGGTTTAATAACATATTATGAAAGTAGTATTTTGTACTATCGTCAGGAAACCAAATAAGATATATATGTGCTCTTAATTTTAAGTGTGTATGTGCATTAAACAAAAATTAGCTTACTATTTGTGTTACTTCATTATCCCTTCTTGATAAATGTATGCAATTATTCTGATGTGAAAAAGTGTTTCTTTTGCAAATTGTACTGCAGTCATAAGGTTAAACAGGAAGTTTCTGCGTTATTCATTCCTGAGACTATATTTGAAAGTCAGATGTTTGAAAGTAGATTTATGGCTAGGGGTAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGGCCTGCCTGGGCAACATAGTGAGACCTCGTCTCTACTAAAAATGGAAAATTAGCTGAGTGTGGTGGCACATGCCTGTGGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGCCGGGGAGGTCAAAACTGCAGTGAGCCTTAATCACATCACTGGGCAGCAGAGTGAGACCCTATCTCAAAAAAAAAAGAGGCCGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGTCAACATGGCGAAACCCCATCTCTACTAAAAATAAAAAAATTAGCCAGGCATGGTGGTTCACGCCTATAGTCTCAGCTCCTCGGGAGGCTGAGGCAGGAGAATCGCTTGTACTTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCTTGGGTGACAGAGCAAGACTCTGTCTCAAAAGAAAAAAAAAAAAGGTAGATTTATGTATAATAAGGGGCTCCATTTTGAGAGGCCTGGAAATGATTAAAATATTCTTAATTGGCTGGGCGCAGTGGCTGACGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAAATACAAAGAATTAGCCGGGCGTGGTGGCGGGTGCTTGTAGTCCTAGCTACTCGGGCAGCTGAGGCAGGAGAATGGCGTAAACCTGGGAGGCGGAGCTTGCAGTGAGCCTGGATCACGTCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAACATAAATAAAATAAAATAAAATATCCTTAATCTTGGTTTTATAGGCATGCCCTCCCCGAATCCAGTTGATTTACATATAGTCGATTGGTTCACATTATATCTGGAGTCATGAAGAGTTAGACATTTCTGTTGCCTTGGGGAGTATATTTACATTTATAAAACTTTAGTGATACCTAACTTGTCATTATCTGGAGTTCAAAAACACTACCTTAGATCATCATCATGATTTGGTTGTTTGTCATCTTTCTGTTGACAGTATGCAGTTGGCAGTAGATGTGCAGATACCAGAATGTTTTGGAGGAGTGGCAGGTGAAGCAGTTTTTATTGATACAGAGGGAAGTTTTATGGTTGATAGAGTGGTAGACCTTGCTACTGCCTGCATTCAGCACCTTCAGCTTATAGCAGAAAAACACAAGGGAGAGGGTAAGTTAGTAAATGATCTTCTTTTTTTCTGTATTAATAAAAGTAATTTGCATTTGTGCCCATCTGAGACCTCAGCAACACTCCATTTGGAATGTGAAGCCTAATTACTGGACAGTTAACTAGTGTTAAACTCTTTTACTACTGTTACAAAATGAGAAATGCCACAGCCTGGACTGGCTTTTTTTTGTTCCCCTTTTATGGCCCTCACTTCTTCCTGTAGGAGCTTTGGGACAAAACCTATGTATGTATTTCAGTCATCATACTCCATCTTATCAGGTGTAAGTTAACGGTGCCGGACACCTTAATATAAGCAACTGTTGTTAAATGCTTTCCAAT | GATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTTCTGTTCAGCACTAGATGATATTCTTGGGGGTGGAGTGCCCTTAATGAAAACAACCTGGTGCACCAGGTGTTGGAAAAACACAATTATGGTAAAATAAAGTGTTCTCCTTTTAAGGGTGGGTTTAATAACATATTATGAAAGTAGTATTTTGTACTATCGTCAGGAAACCAAATAAGATATATATGTGCTCTTAATTTTAAGTGTGTATGTGCATTAAACAAAAATTAGCTTACTATTTGTGTTACTTCATTATCCCTTCTTGATAAATGTATGCAATTATTCTGATGTGAAAAAGTGTTTCTTTTGCAAATTGTACTGCAGTCATAAGGTTAAACAGGAAGTTTCTGCGTTATTCATTCCTGAGACTATATTTGAAAGTCAGATGTTTGAAAGTAGATTTATGGCTAGGGGTAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGGCCTGCCTGGGCAACATAGTGAGACCTCGTCTCTACTAAAAATGGAAAATTAGCTGAGTGTGGTGGCACATGCCTGTGGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGCCGGGGAGGTCAAAACTGCAGTGAGCCTTAATCACATCACTGGGCAGCAGAGTGAGACCCTATCTCAAAAAAAAAAGAGGCCGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGTCAACATGGCGAAACCCCATCTCTACTAAAAATAAAAAAATTAGCCAGGCATGGTGGTTCACGCCTATAGTCTCAGCTCCTCGGGAGGCTGAGGCAGGAGAATCGCTTGTACTTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCTTGGGTGACAGAGCAAGACTCTGTCTCAAAAGAAAAAAAAAAAAGGTAGATTTATGTATAATAAGGGGCTCCATTTTGAGAGGCCTGGAAATGATTAAAATATTCTTAATTGGCTGGGCGCAGTGGCTGACGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAAATACAAAGAATTAGCCGGGCGTGGTGGCGGGTGCTTGTAGTCCTAGCTACTCGGGCAGCTGAGGCAGGAGAATGGCGTAAACCTGGGAGGCGGAGCTTGCAGTGAGCCTGGATCACGTCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAACATAAATAAAATAAAATAAAATATCCTTAATCTTGGTTTTATAGGCATGCCCTCCCCGAATCCAGTTGATTTACATATAGTCGATTGGTTCACATTATATCTGGAGTCATGAAGAGTTAGACATTTCTGTTGCCTTGGGGAGTATATTTACATTTATAAAACTTTAGTGATACCTAACTTGTCATTATCTGGAGTTCAAAAACACTACCTTAGATCATCATCATGATTTGGTTGTTTGTCATCTTTCTGTTGACAGTATGCAGTTGGCAGTAGATGTGCAGATACCAGAATGTTTTGGAGGAGTGGCAGGTGAAGCAGTTTTTATTGATACAGAGGGAAGTTTTATGGTTGATAGAGTGGTAGACCTTGCTACTGCCTGCATTCAGCACCTTCAGCTTATAGCAGAAAAACACAAGGGAGAGGGTAAGTTAGTAAATGATCTTCTTTTTTTCTGTATTAATAAAAGTAATTTGCATTTGTGCCCATCTGAGACCTCAGCAACACTCCATTTGGAATGTGAAGCCTAATTACTGGACAGTTAACTAGTGTTAAACTCTTTTACTACTGTTACAAAATGAGAAATGCCACAGCCTGGACTGGCTTTTTTTTGTTCCCCTTTTATGGCCCTCACTTCTTCCTGTAGGAGCTTTGGGACAAAACCTATGTATGTATTTCAGTCATCATACTCCATCTTATCAGGTGTAAGTTAACGGTGCCGGACACCTTAATATAAGCAACTGTTGTTAAATGCTTTCCAATNNNNNNNN | pathogenic | 279,708 |
Considering the genetic mutation at chromosome 17, position 58695164, impacting RAD51C (RAD51 paralog C): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Breast_and/or_ovarian_cancer', 'Fanconi_anemia_complementation_group_O', 'Hereditary_cancer-predisposing_syndrome'] | TAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTTCTGTTCAGCACTAGATGATATTCTTGGGGGTGGAGTGCCCTTAATGAAAACAACAGAAATTTGTGGTGCACCAGGTGTTGGAAAAACACAATTATGGTAAAATAAAGTGTTCTCCTTTTAAGGGTGGGTTTAATAACATATTATGAAAGTAGTATTTTGTACTATCGTCAGGAAACCAAATAAGATATATATGTGCTCTTAATTTTAAGTGTGTATGTGCATTAAACAAAAATTAGCTTACTATTTGTGTTACTTCATTATCCCTTCTTGATAAATGTATGCAATTATTCTGATGTGAAAAAGTGTTTCTTTTGCAAATTGTACTGCAGTCATAAGGTTAAACAGGAAGTTTCTGCGTTATTCATTCCTGAGACTATATTTGAAAGTCAGATGTTTGAAAGTAGATTTATGGCTAGGGGTAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGGCCTGCCTGGGCAACATAGTGAGACCTCGTCTCTACTAAAAATGGAAAATTAGCTGAGTGTGGTGGCACATGCCTGTGGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGCCGGGGAGGTCAAAACTGCAGTGAGCCTTAATCACATCACTGGGCAGCAGAGTGAGACCCTATCTCAAAAAAAAAAGAGGCCGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGTCAACATGGCGAAACCCCATCTCTACTAAAAATAAAAAAATTAGCCAGGCATGGTGGTTCACGCCTATAGTCTCAGCTCCTCGGGAGGCTGAGGCAGGAGAATCGCTTGTACTTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCTTGGGTGACAGAGCAAGACTCTGTCTCAAAAGAAAAAAAAAAAAGGTAGATTTATGTATAATAAGGGGCTCCATTTTGAGAGGCCTGGAAATGATTAAAATATTCTTAATTGGCTGGGCGCAGTGGCTGACGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAAATACAAAGAATTAGCCGGGCGTGGTGGCGGGTGCTTGTAGTCCTAGCTACTCGGGCAGCTGAGGCAGGAGAATGGCGTAAACCTGGGAGGCGGAGCTTGCAGTGAGCCTGGATCACGTCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAACATAAATAAAATAAAATAAAATATCCTTAATCTTGGTTTTATAGGCATGCCCTCCCCGAATCCAGTTGATTTACATATAGTCGATTGGTTCACATTATATCTGGAGTCATGAAGAGTTAGACATTTCTGTTGCCTTGGGGAGTATATTTACATTTATAAAACTTTAGTGATACCTAACTTGTCATTATCTGGAGTTCAAAAACACTACCTTAGATCATCATCATGATTTGGTTGTTTGTCATCTTTCTGTTGACAGTATGCAGTTGGCAGTAGATGTGCAGATACCAGAATGTTTTGGAGGAGTGGCAGGTGAAGCAGTTTTTATTGATACAGAGGGAAGTTTTATGGTTGATAGAGTGGTAGACCTTGCTACTGCCTGCATTCAGCACCTTCAGCTTATAGCAGAAAAACACAAGGGAGAGGGTAAGTTAGTAAATGATCTTCTTTTTTTCTGTATTAATAAAAGTAATTTGCATTTGTGCCCATCTGAGACCTCAGCAACACTCCATTTGGAATGTGAAGCCTAATTACTGGACAGTTAACTAGTGTTAAACTCTTTTACTACTGTTACAAAATGAGAAATGCCACAGCCTGGACTGGCTTTTTTTTGTTCCCCTTTTATGGCCCTCACTTCTTCCTGTAGGAGCTTTGGGACAAAACCTATGTATGTATTTCAGTCATCATACTCCATCTTATCAGGTGTAAGTTAACGGTGCCGGACACCTTAATATAAGCAACTGTTGTTAAATGCTTTCCAATGTATAAGGACTTCCAT | TAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTTCTGTTCAGCACTAGATGATATTCTTGGGGGTGGAGTGCCCTTAATGAAAACAACAGAAATTTGTGGTGCACGCAGGTGTTGGAAAAACACAATTATGGTAAAATAAAGTGTTCTCCTTTTAAGGGTGGGTTTAATAACATATTATGAAAGTAGTATTTTGTACTATCGTCAGGAAACCAAATAAGATATATATGTGCTCTTAATTTTAAGTGTGTATGTGCATTAAACAAAAATTAGCTTACTATTTGTGTTACTTCATTATCCCTTCTTGATAAATGTATGCAATTATTCTGATGTGAAAAAGTGTTTCTTTTGCAAATTGTACTGCAGTCATAAGGTTAAACAGGAAGTTTCTGCGTTATTCATTCCTGAGACTATATTTGAAAGTCAGATGTTTGAAAGTAGATTTATGGCTAGGGGTAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGGCCTGCCTGGGCAACATAGTGAGACCTCGTCTCTACTAAAAATGGAAAATTAGCTGAGTGTGGTGGCACATGCCTGTGGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGCCGGGGAGGTCAAAACTGCAGTGAGCCTTAATCACATCACTGGGCAGCAGAGTGAGACCCTATCTCAAAAAAAAAAGAGGCCGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGTCAACATGGCGAAACCCCATCTCTACTAAAAATAAAAAAATTAGCCAGGCATGGTGGTTCACGCCTATAGTCTCAGCTCCTCGGGAGGCTGAGGCAGGAGAATCGCTTGTACTTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCTTGGGTGACAGAGCAAGACTCTGTCTCAAAAGAAAAAAAAAAAAGGTAGATTTATGTATAATAAGGGGCTCCATTTTGAGAGGCCTGGAAATGATTAAAATATTCTTAATTGGCTGGGCGCAGTGGCTGACGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAAATACAAAGAATTAGCCGGGCGTGGTGGCGGGTGCTTGTAGTCCTAGCTACTCGGGCAGCTGAGGCAGGAGAATGGCGTAAACCTGGGAGGCGGAGCTTGCAGTGAGCCTGGATCACGTCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAACATAAATAAAATAAAATAAAATATCCTTAATCTTGGTTTTATAGGCATGCCCTCCCCGAATCCAGTTGATTTACATATAGTCGATTGGTTCACATTATATCTGGAGTCATGAAGAGTTAGACATTTCTGTTGCCTTGGGGAGTATATTTACATTTATAAAACTTTAGTGATACCTAACTTGTCATTATCTGGAGTTCAAAAACACTACCTTAGATCATCATCATGATTTGGTTGTTTGTCATCTTTCTGTTGACAGTATGCAGTTGGCAGTAGATGTGCAGATACCAGAATGTTTTGGAGGAGTGGCAGGTGAAGCAGTTTTTATTGATACAGAGGGAAGTTTTATGGTTGATAGAGTGGTAGACCTTGCTACTGCCTGCATTCAGCACCTTCAGCTTATAGCAGAAAAACACAAGGGAGAGGGTAAGTTAGTAAATGATCTTCTTTTTTTCTGTATTAATAAAAGTAATTTGCATTTGTGCCCATCTGAGACCTCAGCAACACTCCATTTGGAATGTGAAGCCTAATTACTGGACAGTTAACTAGTGTTAAACTCTTTTACTACTGTTACAAAATGAGAAATGCCACAGCCTGGACTGGCTTTTTTTTGTTCCCCTTTTATGGCCCTCACTTCTTCCTGTAGGAGCTTTGGGACAAAACCTATGTATGTATTTCAGTCATCATACTCCATCTTATCAGGTGTAAGTTAACGGTGCCGGACACCTTAATATAAGCAACTGTTGTTAAATGCTTTCCAATGTATAAGGACTTCCA | pathogenic | 279,712 |
The mutation impacting RAD51C (RAD51 paralog C) on chromosome 17 at position 58695174: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Fanconi_anemia_complementation_group_O', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast'] | TTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTTCTGTTCAGCACTAGATGATATTCTTGGGGGTGGAGTGCCCTTAATGAAAACAACAGAAATTTGTGGTGCACCAGGTGTTGGAAAAACACAATTATGGTAAAATAAAGTGTTCTCCTTTTAAGGGTGGGTTTAATAACATATTATGAAAGTAGTATTTTGTACTATCGTCAGGAAACCAAATAAGATATATATGTGCTCTTAATTTTAAGTGTGTATGTGCATTAAACAAAAATTAGCTTACTATTTGTGTTACTTCATTATCCCTTCTTGATAAATGTATGCAATTATTCTGATGTGAAAAAGTGTTTCTTTTGCAAATTGTACTGCAGTCATAAGGTTAAACAGGAAGTTTCTGCGTTATTCATTCCTGAGACTATATTTGAAAGTCAGATGTTTGAAAGTAGATTTATGGCTAGGGGTAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGGCCTGCCTGGGCAACATAGTGAGACCTCGTCTCTACTAAAAATGGAAAATTAGCTGAGTGTGGTGGCACATGCCTGTGGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGCCGGGGAGGTCAAAACTGCAGTGAGCCTTAATCACATCACTGGGCAGCAGAGTGAGACCCTATCTCAAAAAAAAAAGAGGCCGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGTCAACATGGCGAAACCCCATCTCTACTAAAAATAAAAAAATTAGCCAGGCATGGTGGTTCACGCCTATAGTCTCAGCTCCTCGGGAGGCTGAGGCAGGAGAATCGCTTGTACTTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCTTGGGTGACAGAGCAAGACTCTGTCTCAAAAGAAAAAAAAAAAAGGTAGATTTATGTATAATAAGGGGCTCCATTTTGAGAGGCCTGGAAATGATTAAAATATTCTTAATTGGCTGGGCGCAGTGGCTGACGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAAATACAAAGAATTAGCCGGGCGTGGTGGCGGGTGCTTGTAGTCCTAGCTACTCGGGCAGCTGAGGCAGGAGAATGGCGTAAACCTGGGAGGCGGAGCTTGCAGTGAGCCTGGATCACGTCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAACATAAATAAAATAAAATAAAATATCCTTAATCTTGGTTTTATAGGCATGCCCTCCCCGAATCCAGTTGATTTACATATAGTCGATTGGTTCACATTATATCTGGAGTCATGAAGAGTTAGACATTTCTGTTGCCTTGGGGAGTATATTTACATTTATAAAACTTTAGTGATACCTAACTTGTCATTATCTGGAGTTCAAAAACACTACCTTAGATCATCATCATGATTTGGTTGTTTGTCATCTTTCTGTTGACAGTATGCAGTTGGCAGTAGATGTGCAGATACCAGAATGTTTTGGAGGAGTGGCAGGTGAAGCAGTTTTTATTGATACAGAGGGAAGTTTTATGGTTGATAGAGTGGTAGACCTTGCTACTGCCTGCATTCAGCACCTTCAGCTTATAGCAGAAAAACACAAGGGAGAGGGTAAGTTAGTAAATGATCTTCTTTTTTTCTGTATTAATAAAAGTAATTTGCATTTGTGCCCATCTGAGACCTCAGCAACACTCCATTTGGAATGTGAAGCCTAATTACTGGACAGTTAACTAGTGTTAAACTCTTTTACTACTGTTACAAAATGAGAAATGCCACAGCCTGGACTGGCTTTTTTTTGTTCCCCTTTTATGGCCCTCACTTCTTCCTGTAGGAGCTTTGGGACAAAACCTATGTATGTATTTCAGTCATCATACTCCATCTTATCAGGTGTAAGTTAACGGTGCCGGACACCTTAATATAAGCAACTGTTGTTAAATGCTTTCCAATGTATAAGGACTTCCATATTGGTTTTC | TTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTTCTGTTCAGCACTAGATGATATTCTTGGGGGTGGAGTGCCCTTAATGAAAACAACAGAAATTTGTGGTGCACCAGGTGTTGGAAAAAACACAATTATGGTAAAATAAAGTGTTCTCCTTTTAAGGGTGGGTTTAATAACATATTATGAAAGTAGTATTTTGTACTATCGTCAGGAAACCAAATAAGATATATATGTGCTCTTAATTTTAAGTGTGTATGTGCATTAAACAAAAATTAGCTTACTATTTGTGTTACTTCATTATCCCTTCTTGATAAATGTATGCAATTATTCTGATGTGAAAAAGTGTTTCTTTTGCAAATTGTACTGCAGTCATAAGGTTAAACAGGAAGTTTCTGCGTTATTCATTCCTGAGACTATATTTGAAAGTCAGATGTTTGAAAGTAGATTTATGGCTAGGGGTAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGGCCTGCCTGGGCAACATAGTGAGACCTCGTCTCTACTAAAAATGGAAAATTAGCTGAGTGTGGTGGCACATGCCTGTGGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGCCGGGGAGGTCAAAACTGCAGTGAGCCTTAATCACATCACTGGGCAGCAGAGTGAGACCCTATCTCAAAAAAAAAAGAGGCCGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGTCAACATGGCGAAACCCCATCTCTACTAAAAATAAAAAAATTAGCCAGGCATGGTGGTTCACGCCTATAGTCTCAGCTCCTCGGGAGGCTGAGGCAGGAGAATCGCTTGTACTTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCTTGGGTGACAGAGCAAGACTCTGTCTCAAAAGAAAAAAAAAAAAGGTAGATTTATGTATAATAAGGGGCTCCATTTTGAGAGGCCTGGAAATGATTAAAATATTCTTAATTGGCTGGGCGCAGTGGCTGACGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAAATACAAAGAATTAGCCGGGCGTGGTGGCGGGTGCTTGTAGTCCTAGCTACTCGGGCAGCTGAGGCAGGAGAATGGCGTAAACCTGGGAGGCGGAGCTTGCAGTGAGCCTGGATCACGTCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAACATAAATAAAATAAAATAAAATATCCTTAATCTTGGTTTTATAGGCATGCCCTCCCCGAATCCAGTTGATTTACATATAGTCGATTGGTTCACATTATATCTGGAGTCATGAAGAGTTAGACATTTCTGTTGCCTTGGGGAGTATATTTACATTTATAAAACTTTAGTGATACCTAACTTGTCATTATCTGGAGTTCAAAAACACTACCTTAGATCATCATCATGATTTGGTTGTTTGTCATCTTTCTGTTGACAGTATGCAGTTGGCAGTAGATGTGCAGATACCAGAATGTTTTGGAGGAGTGGCAGGTGAAGCAGTTTTTATTGATACAGAGGGAAGTTTTATGGTTGATAGAGTGGTAGACCTTGCTACTGCCTGCATTCAGCACCTTCAGCTTATAGCAGAAAAACACAAGGGAGAGGGTAAGTTAGTAAATGATCTTCTTTTTTTCTGTATTAATAAAAGTAATTTGCATTTGTGCCCATCTGAGACCTCAGCAACACTCCATTTGGAATGTGAAGCCTAATTACTGGACAGTTAACTAGTGTTAAACTCTTTTACTACTGTTACAAAATGAGAAATGCCACAGCCTGGACTGGCTTTTTTTTGTTCCCCTTTTATGGCCCTCACTTCTTCCTGTAGGAGCTTTGGGACAAAACCTATGTATGTATTTCAGTCATCATACTCCATCTTATCAGGTGTAAGTTAACGGTGCCGGACACCTTAATATAAGCAACTGTTGTTAAATGCTTTCCAATGTATAAGGACTTCCATATTGGTTTT | pathogenic | 279,714 |
Considering the variant on chromosome 17, location 58695182, involving gene RAD51C (RAD51 paralog C), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3'] | AACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTTCTGTTCAGCACTAGATGATATTCTTGGGGGTGGAGTGCCCTTAATGAAAACAACAGAAATTTGTGGTGCACCAGGTGTTGGAAAAACACAATTATGGTAAAATAAAGTGTTCTCCTTTTAAGGGTGGGTTTAATAACATATTATGAAAGTAGTATTTTGTACTATCGTCAGGAAACCAAATAAGATATATATGTGCTCTTAATTTTAAGTGTGTATGTGCATTAAACAAAAATTAGCTTACTATTTGTGTTACTTCATTATCCCTTCTTGATAAATGTATGCAATTATTCTGATGTGAAAAAGTGTTTCTTTTGCAAATTGTACTGCAGTCATAAGGTTAAACAGGAAGTTTCTGCGTTATTCATTCCTGAGACTATATTTGAAAGTCAGATGTTTGAAAGTAGATTTATGGCTAGGGGTAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGGCCTGCCTGGGCAACATAGTGAGACCTCGTCTCTACTAAAAATGGAAAATTAGCTGAGTGTGGTGGCACATGCCTGTGGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGCCGGGGAGGTCAAAACTGCAGTGAGCCTTAATCACATCACTGGGCAGCAGAGTGAGACCCTATCTCAAAAAAAAAAGAGGCCGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGTCAACATGGCGAAACCCCATCTCTACTAAAAATAAAAAAATTAGCCAGGCATGGTGGTTCACGCCTATAGTCTCAGCTCCTCGGGAGGCTGAGGCAGGAGAATCGCTTGTACTTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCTTGGGTGACAGAGCAAGACTCTGTCTCAAAAGAAAAAAAAAAAAGGTAGATTTATGTATAATAAGGGGCTCCATTTTGAGAGGCCTGGAAATGATTAAAATATTCTTAATTGGCTGGGCGCAGTGGCTGACGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAAATACAAAGAATTAGCCGGGCGTGGTGGCGGGTGCTTGTAGTCCTAGCTACTCGGGCAGCTGAGGCAGGAGAATGGCGTAAACCTGGGAGGCGGAGCTTGCAGTGAGCCTGGATCACGTCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAACATAAATAAAATAAAATAAAATATCCTTAATCTTGGTTTTATAGGCATGCCCTCCCCGAATCCAGTTGATTTACATATAGTCGATTGGTTCACATTATATCTGGAGTCATGAAGAGTTAGACATTTCTGTTGCCTTGGGGAGTATATTTACATTTATAAAACTTTAGTGATACCTAACTTGTCATTATCTGGAGTTCAAAAACACTACCTTAGATCATCATCATGATTTGGTTGTTTGTCATCTTTCTGTTGACAGTATGCAGTTGGCAGTAGATGTGCAGATACCAGAATGTTTTGGAGGAGTGGCAGGTGAAGCAGTTTTTATTGATACAGAGGGAAGTTTTATGGTTGATAGAGTGGTAGACCTTGCTACTGCCTGCATTCAGCACCTTCAGCTTATAGCAGAAAAACACAAGGGAGAGGGTAAGTTAGTAAATGATCTTCTTTTTTTCTGTATTAATAAAAGTAATTTGCATTTGTGCCCATCTGAGACCTCAGCAACACTCCATTTGGAATGTGAAGCCTAATTACTGGACAGTTAACTAGTGTTAAACTCTTTTACTACTGTTACAAAATGAGAAATGCCACAGCCTGGACTGGCTTTTTTTTGTTCCCCTTTTATGGCCCTCACTTCTTCCTGTAGGAGCTTTGGGACAAAACCTATGTATGTATTTCAGTCATCATACTCCATCTTATCAGGTGTAAGTTAACGGTGCCGGACACCTTAATATAAGCAACTGTTGTTAAATGCTTTCCAATGTATAAGGACTTCCATATTGGTTTTCCAAAAACC | AACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTTCTGTTCAGCACTAGATGATATTCTTGGGGGTGGAGTGCCCTTAATGAAAACAACAGAAATTTGTGGTGCACCAGGTGTTGGAAAAACACAAATTATGGTAAAATAAAGTGTTCTCCTTTTAAGGGTGGGTTTAATAACATATTATGAAAGTAGTATTTTGTACTATCGTCAGGAAACCAAATAAGATATATATGTGCTCTTAATTTTAAGTGTGTATGTGCATTAAACAAAAATTAGCTTACTATTTGTGTTACTTCATTATCCCTTCTTGATAAATGTATGCAATTATTCTGATGTGAAAAAGTGTTTCTTTTGCAAATTGTACTGCAGTCATAAGGTTAAACAGGAAGTTTCTGCGTTATTCATTCCTGAGACTATATTTGAAAGTCAGATGTTTGAAAGTAGATTTATGGCTAGGGGTAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGGCCTGCCTGGGCAACATAGTGAGACCTCGTCTCTACTAAAAATGGAAAATTAGCTGAGTGTGGTGGCACATGCCTGTGGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGCCGGGGAGGTCAAAACTGCAGTGAGCCTTAATCACATCACTGGGCAGCAGAGTGAGACCCTATCTCAAAAAAAAAAGAGGCCGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGTCAACATGGCGAAACCCCATCTCTACTAAAAATAAAAAAATTAGCCAGGCATGGTGGTTCACGCCTATAGTCTCAGCTCCTCGGGAGGCTGAGGCAGGAGAATCGCTTGTACTTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCTTGGGTGACAGAGCAAGACTCTGTCTCAAAAGAAAAAAAAAAAAGGTAGATTTATGTATAATAAGGGGCTCCATTTTGAGAGGCCTGGAAATGATTAAAATATTCTTAATTGGCTGGGCGCAGTGGCTGACGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAAATACAAAGAATTAGCCGGGCGTGGTGGCGGGTGCTTGTAGTCCTAGCTACTCGGGCAGCTGAGGCAGGAGAATGGCGTAAACCTGGGAGGCGGAGCTTGCAGTGAGCCTGGATCACGTCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAACATAAATAAAATAAAATAAAATATCCTTAATCTTGGTTTTATAGGCATGCCCTCCCCGAATCCAGTTGATTTACATATAGTCGATTGGTTCACATTATATCTGGAGTCATGAAGAGTTAGACATTTCTGTTGCCTTGGGGAGTATATTTACATTTATAAAACTTTAGTGATACCTAACTTGTCATTATCTGGAGTTCAAAAACACTACCTTAGATCATCATCATGATTTGGTTGTTTGTCATCTTTCTGTTGACAGTATGCAGTTGGCAGTAGATGTGCAGATACCAGAATGTTTTGGAGGAGTGGCAGGTGAAGCAGTTTTTATTGATACAGAGGGAAGTTTTATGGTTGATAGAGTGGTAGACCTTGCTACTGCCTGCATTCAGCACCTTCAGCTTATAGCAGAAAAACACAAGGGAGAGGGTAAGTTAGTAAATGATCTTCTTTTTTTCTGTATTAATAAAAGTAATTTGCATTTGTGCCCATCTGAGACCTCAGCAACACTCCATTTGGAATGTGAAGCCTAATTACTGGACAGTTAACTAGTGTTAAACTCTTTTACTACTGTTACAAAATGAGAAATGCCACAGCCTGGACTGGCTTTTTTTTGTTCCCCTTTTATGGCCCTCACTTCTTCCTGTAGGAGCTTTGGGACAAAACCTATGTATGTATTTCAGTCATCATACTCCATCTTATCAGGTGTAAGTTAACGGTGCCGGACACCTTAATATAAGCAACTGTTGTTAAATGCTTTCCAATGTATAAGGACTTCCATATTGGTTTTCCAAAAAC | pathogenic | 279,718 |
Clinical classification of chromosome 17, position 58695230, gene RAD51C (RAD51 paralog C): benign or pathogenic? Disease(s) if pathogenic? | benign | TGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTTCTGTTCAGCACTAGATGATATTCTTGGGGGTGGAGTGCCCTTAATGAAAACAACAGAAATTTGTGGTGCACCAGGTGTTGGAAAAACACAATTATGGTAAAATAAAGTGTTCTCCTTTTAAGGGTGGGTTTAATAACATATTATGAAAGTAGTATTTTGTACTATCGTCAGGAAACCAAATAAGATATATATGTGCTCTTAATTTTAAGTGTGTATGTGCATTAAACAAAAATTAGCTTACTATTTGTGTTACTTCATTATCCCTTCTTGATAAATGTATGCAATTATTCTGATGTGAAAAAGTGTTTCTTTTGCAAATTGTACTGCAGTCATAAGGTTAAACAGGAAGTTTCTGCGTTATTCATTCCTGAGACTATATTTGAAAGTCAGATGTTTGAAAGTAGATTTATGGCTAGGGGTAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGGCCTGCCTGGGCAACATAGTGAGACCTCGTCTCTACTAAAAATGGAAAATTAGCTGAGTGTGGTGGCACATGCCTGTGGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGCCGGGGAGGTCAAAACTGCAGTGAGCCTTAATCACATCACTGGGCAGCAGAGTGAGACCCTATCTCAAAAAAAAAAGAGGCCGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGTCAACATGGCGAAACCCCATCTCTACTAAAAATAAAAAAATTAGCCAGGCATGGTGGTTCACGCCTATAGTCTCAGCTCCTCGGGAGGCTGAGGCAGGAGAATCGCTTGTACTTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCTTGGGTGACAGAGCAAGACTCTGTCTCAAAAGAAAAAAAAAAAAGGTAGATTTATGTATAATAAGGGGCTCCATTTTGAGAGGCCTGGAAATGATTAAAATATTCTTAATTGGCTGGGCGCAGTGGCTGACGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAAATACAAAGAATTAGCCGGGCGTGGTGGCGGGTGCTTGTAGTCCTAGCTACTCGGGCAGCTGAGGCAGGAGAATGGCGTAAACCTGGGAGGCGGAGCTTGCAGTGAGCCTGGATCACGTCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAACATAAATAAAATAAAATAAAATATCCTTAATCTTGGTTTTATAGGCATGCCCTCCCCGAATCCAGTTGATTTACATATAGTCGATTGGTTCACATTATATCTGGAGTCATGAAGAGTTAGACATTTCTGTTGCCTTGGGGAGTATATTTACATTTATAAAACTTTAGTGATACCTAACTTGTCATTATCTGGAGTTCAAAAACACTACCTTAGATCATCATCATGATTTGGTTGTTTGTCATCTTTCTGTTGACAGTATGCAGTTGGCAGTAGATGTGCAGATACCAGAATGTTTTGGAGGAGTGGCAGGTGAAGCAGTTTTTATTGATACAGAGGGAAGTTTTATGGTTGATAGAGTGGTAGACCTTGCTACTGCCTGCATTCAGCACCTTCAGCTTATAGCAGAAAAACACAAGGGAGAGGGTAAGTTAGTAAATGATCTTCTTTTTTTCTGTATTAATAAAAGTAATTTGCATTTGTGCCCATCTGAGACCTCAGCAACACTCCATTTGGAATGTGAAGCCTAATTACTGGACAGTTAACTAGTGTTAAACTCTTTTACTACTGTTACAAAATGAGAAATGCCACAGCCTGGACTGGCTTTTTTTTGTTCCCCTTTTATGGCCCTCACTTCTTCCTGTAGGAGCTTTGGGACAAAACCTATGTATGTATTTCAGTCATCATACTCCATCTTATCAGGTGTAAGTTAACGGTGCCGGACACCTTAATATAAGCAACTGTTGTTAAATGCTTTCCAATGTATAAGGACTTCCATATTGGTTTTCCAAAAACCAAAGGTAGCTTTGAAAACCACGTCTGAGGCCGGATGCAGTGCTCATGC | TGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTTCTGTTCAGCACTAGATGATATTCTTGGGGGTGGAGTGCCCTTAATGAAAACAACAGAAATTTGTGGTGCACCAGGTGTTGGAAAAACACAATTATGGTAAAATAAAGTGTTCTCCTTTTAAGGGTGGGTTTAATAACATTATGAAAGTAGTATTTTGTACTATCGTCAGGAAACCAAATAAGATATATATGTGCTCTTAATTTTAAGTGTGTATGTGCATTAAACAAAAATTAGCTTACTATTTGTGTTACTTCATTATCCCTTCTTGATAAATGTATGCAATTATTCTGATGTGAAAAAGTGTTTCTTTTGCAAATTGTACTGCAGTCATAAGGTTAAACAGGAAGTTTCTGCGTTATTCATTCCTGAGACTATATTTGAAAGTCAGATGTTTGAAAGTAGATTTATGGCTAGGGGTAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGGCCTGCCTGGGCAACATAGTGAGACCTCGTCTCTACTAAAAATGGAAAATTAGCTGAGTGTGGTGGCACATGCCTGTGGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGCCGGGGAGGTCAAAACTGCAGTGAGCCTTAATCACATCACTGGGCAGCAGAGTGAGACCCTATCTCAAAAAAAAAAGAGGCCGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGTCAACATGGCGAAACCCCATCTCTACTAAAAATAAAAAAATTAGCCAGGCATGGTGGTTCACGCCTATAGTCTCAGCTCCTCGGGAGGCTGAGGCAGGAGAATCGCTTGTACTTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCTTGGGTGACAGAGCAAGACTCTGTCTCAAAAGAAAAAAAAAAAAGGTAGATTTATGTATAATAAGGGGCTCCATTTTGAGAGGCCTGGAAATGATTAAAATATTCTTAATTGGCTGGGCGCAGTGGCTGACGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAAATACAAAGAATTAGCCGGGCGTGGTGGCGGGTGCTTGTAGTCCTAGCTACTCGGGCAGCTGAGGCAGGAGAATGGCGTAAACCTGGGAGGCGGAGCTTGCAGTGAGCCTGGATCACGTCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAACATAAATAAAATAAAATAAAATATCCTTAATCTTGGTTTTATAGGCATGCCCTCCCCGAATCCAGTTGATTTACATATAGTCGATTGGTTCACATTATATCTGGAGTCATGAAGAGTTAGACATTTCTGTTGCCTTGGGGAGTATATTTACATTTATAAAACTTTAGTGATACCTAACTTGTCATTATCTGGAGTTCAAAAACACTACCTTAGATCATCATCATGATTTGGTTGTTTGTCATCTTTCTGTTGACAGTATGCAGTTGGCAGTAGATGTGCAGATACCAGAATGTTTTGGAGGAGTGGCAGGTGAAGCAGTTTTTATTGATACAGAGGGAAGTTTTATGGTTGATAGAGTGGTAGACCTTGCTACTGCCTGCATTCAGCACCTTCAGCTTATAGCAGAAAAACACAAGGGAGAGGGTAAGTTAGTAAATGATCTTCTTTTTTTCTGTATTAATAAAAGTAATTTGCATTTGTGCCCATCTGAGACCTCAGCAACACTCCATTTGGAATGTGAAGCCTAATTACTGGACAGTTAACTAGTGTTAAACTCTTTTACTACTGTTACAAAATGAGAAATGCCACAGCCTGGACTGGCTTTTTTTTGTTCCCCTTTTATGGCCCTCACTTCTTCCTGTAGGAGCTTTGGGACAAAACCTATGTATGTATTTCAGTCATCATACTCCATCTTATCAGGTGTAAGTTAACGGTGCCGGACACCTTAATATAAGCAACTGTTGTTAAATGCTTTCCAATGTATAAGGACTTCCATATTGGTTTTCCAAAAACCAAAGGTAGCTTTGAAAACCACGTCTGAGGCCGGATGCAGTGCTCATGCNN | benign | 279,728 |
Regarding the variant at chromosome 17 and position 58695251, affecting gene RAD51C (RAD51 paralog C): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | AGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTTCTGTTCAGCACTAGATGATATTCTTGGGGGTGGAGTGCCCTTAATGAAAACAACAGAAATTTGTGGTGCACCAGGTGTTGGAAAAACACAATTATGGTAAAATAAAGTGTTCTCCTTTTAAGGGTGGGTTTAATAACATATTATGAAAGTAGTATTTTGTACTATCGTCAGGAAACCAAATAAGATATATATGTGCTCTTAATTTTAAGTGTGTATGTGCATTAAACAAAAATTAGCTTACTATTTGTGTTACTTCATTATCCCTTCTTGATAAATGTATGCAATTATTCTGATGTGAAAAAGTGTTTCTTTTGCAAATTGTACTGCAGTCATAAGGTTAAACAGGAAGTTTCTGCGTTATTCATTCCTGAGACTATATTTGAAAGTCAGATGTTTGAAAGTAGATTTATGGCTAGGGGTAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGGCCTGCCTGGGCAACATAGTGAGACCTCGTCTCTACTAAAAATGGAAAATTAGCTGAGTGTGGTGGCACATGCCTGTGGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGCCGGGGAGGTCAAAACTGCAGTGAGCCTTAATCACATCACTGGGCAGCAGAGTGAGACCCTATCTCAAAAAAAAAAGAGGCCGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGTCAACATGGCGAAACCCCATCTCTACTAAAAATAAAAAAATTAGCCAGGCATGGTGGTTCACGCCTATAGTCTCAGCTCCTCGGGAGGCTGAGGCAGGAGAATCGCTTGTACTTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCTTGGGTGACAGAGCAAGACTCTGTCTCAAAAGAAAAAAAAAAAAGGTAGATTTATGTATAATAAGGGGCTCCATTTTGAGAGGCCTGGAAATGATTAAAATATTCTTAATTGGCTGGGCGCAGTGGCTGACGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAAATACAAAGAATTAGCCGGGCGTGGTGGCGGGTGCTTGTAGTCCTAGCTACTCGGGCAGCTGAGGCAGGAGAATGGCGTAAACCTGGGAGGCGGAGCTTGCAGTGAGCCTGGATCACGTCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAACATAAATAAAATAAAATAAAATATCCTTAATCTTGGTTTTATAGGCATGCCCTCCCCGAATCCAGTTGATTTACATATAGTCGATTGGTTCACATTATATCTGGAGTCATGAAGAGTTAGACATTTCTGTTGCCTTGGGGAGTATATTTACATTTATAAAACTTTAGTGATACCTAACTTGTCATTATCTGGAGTTCAAAAACACTACCTTAGATCATCATCATGATTTGGTTGTTTGTCATCTTTCTGTTGACAGTATGCAGTTGGCAGTAGATGTGCAGATACCAGAATGTTTTGGAGGAGTGGCAGGTGAAGCAGTTTTTATTGATACAGAGGGAAGTTTTATGGTTGATAGAGTGGTAGACCTTGCTACTGCCTGCATTCAGCACCTTCAGCTTATAGCAGAAAAACACAAGGGAGAGGGTAAGTTAGTAAATGATCTTCTTTTTTTCTGTATTAATAAAAGTAATTTGCATTTGTGCCCATCTGAGACCTCAGCAACACTCCATTTGGAATGTGAAGCCTAATTACTGGACAGTTAACTAGTGTTAAACTCTTTTACTACTGTTACAAAATGAGAAATGCCACAGCCTGGACTGGCTTTTTTTTGTTCCCCTTTTATGGCCCTCACTTCTTCCTGTAGGAGCTTTGGGACAAAACCTATGTATGTATTTCAGTCATCATACTCCATCTTATCAGGTGTAAGTTAACGGTGCCGGACACCTTAATATAAGCAACTGTTGTTAAATGCTTTCCAATGTATAAGGACTTCCATATTGGTTTTCCAAAAACCAAAGGTAGCTTTGAAAACCACGTCTGAGGCCGGATGCAGTGCTCATGCCTGTAATCCCAGCCCTTTGGG | AGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAATTCGCCTCTAAAGAATAAGTCTCGTGGACCCAGCCTTAACTGTTTAAGTCATACCGCGCGCAGACTGTGTCCCCCAAGATTTGATGGGCTCTTTTTTCTTCAACAAGTTGGCTTTTCAAAGAAGAAATGTGAGACCCTGAATAATAATGATCACTAACAACTATTGACTACTTTAGATGGTCTTGATATTCTACCAAGCTTTTTACATGTATCGTCTCATTCCCATTTTATAGACGAAAAAAATCTGAGCAAAAAAGAAAAAGTGAAGTAACTTGCCCAAAGTCATGCAGTAAGTGGTGCCAGGATTTACAAACCCAGGCAATCTAATTCCAGCATTCAGGCTCTTGATAGGATTTTCATTTCCTAAATGCTGTCATCACCATTGTCTTTTATTAGCCCCATATTTATGGCTCATATTCTTATCAGATCAAGCACTGATATATCAAACTGATAAGTGATGTCATCCTCACCATTATTTCTTCACCAGCTTGTTTTGTAATTGCCATTTTCTTTTCTCAGGCCACACTGTCAGATGGGTGAAATTGTGTAGTCGAGGAAGCATAAATGTATTCTTTAAAATGCTTGTGCCTTGAATAATTGTTCTCATTAGTTTGGAGTGATACATGAATTTTTTACATCAGTTATTTCCATGAAAAGTTTTTATTATAAATAATACATGCATATGTGCTTCTTAAAGTTGTACCTTGTTTTAGGCAGTTAAAACATCTATTTTCATTCTCATCTGAAAAATAATTTGTATACCTTATGAGAGCGAGATAATTATGGCTTCATAAGACCAAAAGGGATAGTAAAAATATGGTAATAGTGAGTACATTTTTATTTCTGCTTCCTGAGACACTTGTAGGTACTCAGAAATGCTTTAGTTGAATTGTTTCTGAGGTAATAGGTAATTCTTTATGTGATGACTAAGAAAACGAATACCTTTATTAAGCTGAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCACTGTCATCCAGGCTGGAATGCAGTGGTGCGATCCAGGCTGGAGTGCAGTGGTGCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTATAACGCGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTTCTGTTCAGCACTAGATGATATTCTTGGGGGTGGAGTGCCCTTAATGAAAACAACAGAAATTTGTGGTGCACCAGGTGTTGGAAAAACACAATTATGGTAAAATAAAGTGTTCTCCTTTTAAGGGTGGGTTTAATAACATATTATGAAAGTAGTATTTTGTACTATCGGTACTATCGTCAGGAAACCAAATAAGATATATATGTGCTCTTAATTTTAAGTGTGTATGTGCATTAAACAAAAATTAGCTTACTATTTGTGTTACTTCATTATCCCTTCTTGATAAATGTATGCAATTATTCTGATGTGAAAAAGTGTTTCTTTTGCAAATTGTACTGCAGTCATAAGGTTAAACAGGAAGTTTCTGCGTTATTCATTCCTGAGACTATATTTGAAAGTCAGATGTTTGAAAGTAGATTTATGGCTAGGGGTAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGGCCTGCCTGGGCAACATAGTGAGACCTCGTCTCTACTAAAAATGGAAAATTAGCTGAGTGTGGTGGCACATGCCTGTGGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGCCGGGGAGGTCAAAACTGCAGTGAGCCTTAATCACATCACTGGGCAGCAGAGTGAGACCCTATCTCAAAAAAAAAAGAGGCCGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGTCAACATGGCGAAACCCCATCTCTACTAAAAATAAAAAAATTAGCCAGGCATGGTGGTTCACGCCTATAGTCTCAGCTCCTCGGGAGGCTGAGGCAGGAGAATCGCTTGTACTTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCTTGGGTGACAGAGCAAGACTCTGTCTCAAAAGAAAAAAAAAAAAGGTAGATTTATGTATAATAAGGGGCTCCATTTTGAGAGGCCTGGAAATGATTAAAATATTCTTAATTGGCTGGGCGCAGTGGCTGACGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAAATACAAAGAATTAGCCGGGCGTGGTGGCGGGTGCTTGTAGTCCTAGCTACTCGGGCAGCTGAGGCAGGAGAATGGCGTAAACCTGGGAGGCGGAGCTTGCAGTGAGCCTGGATCACGTCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAACATAAATAAAATAAAATAAAATATCCTTAATCTTGGTTTTATAGGCATGCCCTCCCCGAATCCAGTTGATTTACATATAGTCGATTGGTTCACATTATATCTGGAGTCATGAAGAGTTAGACATTTCTGTTGCCTTGGGGAGTATATTTACATTTATAAAACTTTAGTGATACCTAACTTGTCATTATCTGGAGTTCAAAAACACTACCTTAGATCATCATCATGATTTGGTTGTTTGTCATCTTTCTGTTGACAGTATGCAGTTGGCAGTAGATGTGCAGATACCAGAATGTTTTGGAGGAGTGGCAGGTGAAGCAGTTTTTATTGATACAGAGGGAAGTTTTATGGTTGATAGAGTGGTAGACCTTGCTACTGCCTGCATTCAGCACCTTCAGCTTATAGCAGAAAAACACAAGGGAGAGGGTAAGTTAGTAAATGATCTTCTTTTTTTCTGTATTAATAAAAGTAATTTGCATTTGTGCCCATCTGAGACCTCAGCAACACTCCATTTGGAATGTGAAGCCTAATTACTGGACAGTTAACTAGTGTTAAACTCTTTTACTACTGTTACAAAATGAGAAATGCCACAGCCTGGACTGGCTTTTTTTTGTTCCCCTTTTATGGCCCTCACTTCTTCCTGTAGGAGCTTTGGGACAAAACCTATGTATGTATTTCAGTCATCATACTCCATCTTATCAGGTGTAAGTTAACGGTGCCGGACACCTTAATATAAGCAACTGTTGTTAAATGCTTTCCAATGTATAAGGACTTCCATATTGGTTTTCCAAAAACCAAAGGTAGCTTTGAAAACCACGTCTGAGGCCGGATGCAGTGCTCATGCCTGTAATCCCAG | benign | 279,729 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 58696689, gene RAD51C (RAD51 paralog C). What disease(s) is it linked to if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Hereditary_cancer-predisposing_syndrome'] | ATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTTCTGTTCAGCACTAGATGATATTCTTGGGGGTGGAGTGCCCTTAATGAAAACAACAGAAATTTGTGGTGCACCAGGTGTTGGAAAAACACAATTATGGTAAAATAAAGTGTTCTCCTTTTAAGGGTGGGTTTAATAACATATTATGAAAGTAGTATTTTGTACTATCGTCAGGAAACCAAATAAGATATATATGTGCTCTTAATTTTAAGTGTGTATGTGCATTAAACAAAAATTAGCTTACTATTTGTGTTACTTCATTATCCCTTCTTGATAAATGTATGCAATTATTCTGATGTGAAAAAGTGTTTCTTTTGCAAATTGTACTGCAGTCATAAGGTTAAACAGGAAGTTTCTGCGTTATTCATTCCTGAGACTATATTTGAAAGTCAGATGTTTGAAAGTAGATTTATGGCTAGGGGTAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGGCCTGCCTGGGCAACATAGTGAGACCTCGTCTCTACTAAAAATGGAAAATTAGCTGAGTGTGGTGGCACATGCCTGTGGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGCCGGGGAGGTCAAAACTGCAGTGAGCCTTAATCACATCACTGGGCAGCAGAGTGAGACCCTATCTCAAAAAAAAAAGAGGCCGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGTCAACATGGCGAAACCCCATCTCTACTAAAAATAAAAAAATTAGCCAGGCATGGTGGTTCACGCCTATAGTCTCAGCTCCTCGGGAGGCTGAGGCAGGAGAATCGCTTGTACTTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCTTGGGTGACAGAGCAAGACTCTGTCTCAAAAGAAAAAAAAAAAAGGTAGATTTATGTATAATAAGGGGCTCCATTTTGAGAGGCCTGGAAATGATTAAAATATTCTTAATTGGCTGGGCGCAGTGGCTGACGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAAATACAAAGAATTAGCCGGGCGTGGTGGCGGGTGCTTGTAGTCCTAGCTACTCGGGCAGCTGAGGCAGGAGAATGGCGTAAACCTGGGAGGCGGAGCTTGCAGTGAGCCTGGATCACGTCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAACATAAATAAAATAAAATAAAATATCCTTAATCTTGGTTTTATAGGCATGCCCTCCCCGAATCCAGTTGATTTACATATAGTCGATTGGTTCACATTATATCTGGAGTCATGAAGAGTTAGACATTTCTGTTGCCTTGGGGAGTATATTTACATTTATAAAACTTTAGTGATACCTAACTTGTCATTATCTGGAGTTCAAAAACACTACCTTAGATCATCATCATGATTTGGTTGTTTGTCATCTTTCTGTTGACAGTATGCAGTTGGCAGTAGATGTGCAGATACCAGAATGTTTTGGAGGAGTGGCAGGTGAAGCAGTTTTTATTGATACAGAGGGAAGTTTTATGGTTGATAGAGTGGTAGACCTTGCTACTGCCTGCATTCAGCACCTTCAGCTTATAGCAGAAAAACACAAGGGAGAGGGTAAGTTAGTAAATGATCTTCTTTTTTTCTGTATTAATAAAAGTAATTTGCATTTGTGCCCATCTGAGACCTCAGCAACACTCCATTTGGAATGTGAAGCCTAATTACTGGACAGTTAACTAGTGTTAAACTCTTTTACTACTGTTACAAAATGAGAAATGCCACAGCCTGGACTGGCTTTTTTTTGTTCCCCTTTTATGGCCCTCACTTCTTCCTGTAGGAGCTTTGGGACAAAACCTATGTATGTATTTCAGTCATCATACTCCATCTTATCAGGTGTAAGTTAACGGTGCCGGACACCTTAATATAAGCAACTGTTGTTAAATGCTTTCCAATGTATAAGGACTTCCATATTGGTTTTCCAAAAACCAAAGGTAGCTTTGAAAACCACGTCTGAGGCCGGATGCAGTGCTCATGCCTGTAATCCCAGCCCTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGATGAAACCCTATCTGTACTAAAAATACCAAAATTAGCCAGGTGTGATGGCACATGCCTGTAATCTCAGCTACTAAGGAGGCTGAGGCAGGAGAATCACTTGAACTCAGGAGTTGGAGATTGCAGTGAGCCCAGATTACGCCACTGCACTCCAGCCTAGGCAACAGAGTGAGACTACTCTGTCTCTTAAAAAAAAAAAAAAAAACCAAAAAAAAAAACCACGTCTGAAATGTTTGGATTGTTAAGCAGATTGACTTGGGGGCTTTGATTATATAGCTGATTTCATAACTGCACTAATTGTTAAAGTGTTTGGGAGGTGTTGTTTTGGTGCTTGTTATGTGAAAATAAAGTGACTGTAAAACGATTTTTTTTTTTTTGAGACAAAGTTTCGCTTTTGCTGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACTTCCACCTCCTGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGTGCCACCACGCCCAGTTAATTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGTTGATCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACCGCACCCGGCCAATTTTTTTTTCTTTTTTGAGACAGAGTCTTGCTCTGTGGCCCAGGCTAGAGTACAGTGGCGCGATCTCGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGAATTATAGGCATGTGTTACCATGCCCAGCTAATTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCGCCCAGGCTAGAGTGTAATGGCACAATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCCACCACCATGCCCAGCTAATTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCGGCCACACCCAGCTAATTTTTGTATTTTTTGTAGAGAGGGGGTTTCACCATATAGGCAAGTCAGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCACGCCCAGCCTTAAACAGTTTTTTGAAAGATAATTTATAGGCCGGGTGCAGTGTCTCATTCCTGTAAACCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAAGTCAGGAGCC | ATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTTCTGTTCAGCACTAGATGATATTCTTGGGGGTGGAGTGCCCTTAATGAAAACAACAGAAATTTGTGGTGCACCAGGTGTTGGAAAAACACAATTATGGTAAAATAAAGTGTTCTCCTTTTAAGGGTGGGTTTAATAACATATTATGAAAGTAGTATTTTGTACTATCGTCAGGAAACCAAATAAGATATATATGTGCTCTTAATTTTAAGTGTGTATGTGCATTAAACAAAAATTAGCTTACTATTTGTGTTACTTCATTATCCCTTCTTGATAAATGTATGCAATTATTCTGATGTGAAAAAGTGTTTCTTTTGCAAATTGTACTGCAGTCATAAGGTTAAACAGGAAGTTTCTGCGTTATTCATTCCTGAGACTATATTTGAAAGTCAGATGTTTGAAAGTAGATTTATGGCTAGGGGTAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGGCCTGCCTGGGCAACATAGTGAGACCTCGTCTCTACTAAAAATGGAAAATTAGCTGAGTGTGGTGGCACATGCCTGTGGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGCCGGGGAGGTCAAAACTGCAGTGAGCCTTAATCACATCACTGGGCAGCAGAGTGAGACCCTATCTCAAAAAAAAAAGAGGCCGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGTCAACATGGCGAAACCCCATCTCTACTAAAAATAAAAAAATTAGCCAGGCATGGTGGTTCACGCCTATAGTCTCAGCTCCTCGGGAGGCTGAGGCAGGAGAATCGCTTGTACTTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCTTGGGTGACAGAGCAAGACTCTGTCTCAAAAGAAAAAAAAAAAAGGTAGATTTATGTATAATAAGGGGCTCCATTTTGAGAGGCCTGGAAATGATTAAAATATTCTTAATTGGCTGGGCGCAGTGGCTGACGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAAATACAAAGAATTAGCCGGGCGTGGTGGCGGGTGCTTGTAGTCCTAGCTACTCGGGCAGCTGAGGCAGGAGAATGGCGTAAACCTGGGAGGCGGAGCTTGCAGTGAGCCTGGATCACGTCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAACATAAATAAAATAAAATAAAATATCCTTAATCTTGGTTTTATAGGCATGCCCTCCCCGAATCCAGTTGATTTACATATAGTCGATTGGTTCACATTATATCTGGAGTCATGAAGAGTTAGACATTTCTGTTGCCTTGGGGAGTATATTTACATTTATAAAACTTTAGTGATACCTAACTTGTCATTATCTGGAGTTCAAAAACACTACCTTAGATCATCATCATGATTTGGTTGTTTGTCATCTTTCTGTTGACAGTAGATGTGCAGATACCAGAATGTTTTGGAGGAGTGGCAGGTGAAGCAGTTTTTATTGATACAGAGGGAAGTTTTATGGTTGATAGAGTGGTAGACCTTGCTACTGCCTGCATTCAGCACCTTCAGCTTATAGCAGAAAAACACAAGGGAGAGGGTAAGTTAGTAAATGATCTTCTTTTTTTCTGTATTAATAAAAGTAATTTGCATTTGTGCCCATCTGAGACCTCAGCAACACTCCATTTGGAATGTGAAGCCTAATTACTGGACAGTTAACTAGTGTTAAACTCTTTTACTACTGTTACAAAATGAGAAATGCCACAGCCTGGACTGGCTTTTTTTTGTTCCCCTTTTATGGCCCTCACTTCTTCCTGTAGGAGCTTTGGGACAAAACCTATGTATGTATTTCAGTCATCATACTCCATCTTATCAGGTGTAAGTTAACGGTGCCGGACACCTTAATATAAGCAACTGTTGTTAAATGCTTTCCAATGTATAAGGACTTCCATATTGGTTTTCCAAAAACCAAAGGTAGCTTTGAAAACCACGTCTGAGGCCGGATGCAGTGCTCATGCCTGTAATCCCAGCCCTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGATGAAACCCTATCTGTACTAAAAATACCAAAATTAGCCAGGTGTGATGGCACATGCCTGTAATCTCAGCTACTAAGGAGGCTGAGGCAGGAGAATCACTTGAACTCAGGAGTTGGAGATTGCAGTGAGCCCAGATTACGCCACTGCACTCCAGCCTAGGCAACAGAGTGAGACTACTCTGTCTCTTAAAAAAAAAAAAAAAAACCAAAAAAAAAAACCACGTCTGAAATGTTTGGATTGTTAAGCAGATTGACTTGGGGGCTTTGATTATATAGCTGATTTCATAACTGCACTAATTGTTAAAGTGTTTGGGAGGTGTTGTTTTGGTGCTTGTTATGTGAAAATAAAGTGACTGTAAAACGATTTTTTTTTTTTTGAGACAAAGTTTCGCTTTTGCTGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACTTCCACCTCCTGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGTGCCACCACGCCCAGTTAATTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGTTGATCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACCGCACCCGGCCAATTTTTTTTTCTTTTTTGAGACAGAGTCTTGCTCTGTGGCCCAGGCTAGAGTACAGTGGCGCGATCTCGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGAATTATAGGCATGTGTTACCATGCCCAGCTAATTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCGCCCAGGCTAGAGTGTAATGGCACAATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCCACCACCATGCCCAGCTAATTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCGGCCACACCCAGCTAATTTTTGTATTTTTTGTAGAGAGGGGGTTTCACCATATAGGCAAGTCAGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCACGCCCAGCCTTAAACAGTTTTTTGAAAGATAATTTATAGGCCGGGTGCAGTGTCTCATTCCTGTAAACCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAAGTCAGGAGCCNNNNNNNNNNNNNN | pathogenic | 279,732 |
Determine if the mutation at chromosome 17, position 58696719 in gene RAD51C (RAD51 paralog C) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Fanconi_anemia_complementation_group_O', 'Hereditary_cancer-predisposing_syndrome'] | CACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTTCTGTTCAGCACTAGATGATATTCTTGGGGGTGGAGTGCCCTTAATGAAAACAACAGAAATTTGTGGTGCACCAGGTGTTGGAAAAACACAATTATGGTAAAATAAAGTGTTCTCCTTTTAAGGGTGGGTTTAATAACATATTATGAAAGTAGTATTTTGTACTATCGTCAGGAAACCAAATAAGATATATATGTGCTCTTAATTTTAAGTGTGTATGTGCATTAAACAAAAATTAGCTTACTATTTGTGTTACTTCATTATCCCTTCTTGATAAATGTATGCAATTATTCTGATGTGAAAAAGTGTTTCTTTTGCAAATTGTACTGCAGTCATAAGGTTAAACAGGAAGTTTCTGCGTTATTCATTCCTGAGACTATATTTGAAAGTCAGATGTTTGAAAGTAGATTTATGGCTAGGGGTAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGGCCTGCCTGGGCAACATAGTGAGACCTCGTCTCTACTAAAAATGGAAAATTAGCTGAGTGTGGTGGCACATGCCTGTGGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGCCGGGGAGGTCAAAACTGCAGTGAGCCTTAATCACATCACTGGGCAGCAGAGTGAGACCCTATCTCAAAAAAAAAAGAGGCCGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGTCAACATGGCGAAACCCCATCTCTACTAAAAATAAAAAAATTAGCCAGGCATGGTGGTTCACGCCTATAGTCTCAGCTCCTCGGGAGGCTGAGGCAGGAGAATCGCTTGTACTTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCTTGGGTGACAGAGCAAGACTCTGTCTCAAAAGAAAAAAAAAAAAGGTAGATTTATGTATAATAAGGGGCTCCATTTTGAGAGGCCTGGAAATGATTAAAATATTCTTAATTGGCTGGGCGCAGTGGCTGACGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAAATACAAAGAATTAGCCGGGCGTGGTGGCGGGTGCTTGTAGTCCTAGCTACTCGGGCAGCTGAGGCAGGAGAATGGCGTAAACCTGGGAGGCGGAGCTTGCAGTGAGCCTGGATCACGTCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAACATAAATAAAATAAAATAAAATATCCTTAATCTTGGTTTTATAGGCATGCCCTCCCCGAATCCAGTTGATTTACATATAGTCGATTGGTTCACATTATATCTGGAGTCATGAAGAGTTAGACATTTCTGTTGCCTTGGGGAGTATATTTACATTTATAAAACTTTAGTGATACCTAACTTGTCATTATCTGGAGTTCAAAAACACTACCTTAGATCATCATCATGATTTGGTTGTTTGTCATCTTTCTGTTGACAGTATGCAGTTGGCAGTAGATGTGCAGATACCAGAATGTTTTGGAGGAGTGGCAGGTGAAGCAGTTTTTATTGATACAGAGGGAAGTTTTATGGTTGATAGAGTGGTAGACCTTGCTACTGCCTGCATTCAGCACCTTCAGCTTATAGCAGAAAAACACAAGGGAGAGGGTAAGTTAGTAAATGATCTTCTTTTTTTCTGTATTAATAAAAGTAATTTGCATTTGTGCCCATCTGAGACCTCAGCAACACTCCATTTGGAATGTGAAGCCTAATTACTGGACAGTTAACTAGTGTTAAACTCTTTTACTACTGTTACAAAATGAGAAATGCCACAGCCTGGACTGGCTTTTTTTTGTTCCCCTTTTATGGCCCTCACTTCTTCCTGTAGGAGCTTTGGGACAAAACCTATGTATGTATTTCAGTCATCATACTCCATCTTATCAGGTGTAAGTTAACGGTGCCGGACACCTTAATATAAGCAACTGTTGTTAAATGCTTTCCAATGTATAAGGACTTCCATATTGGTTTTCCAAAAACCAAAGGTAGCTTTGAAAACCACGTCTGAGGCCGGATGCAGTGCTCATGCCTGTAATCCCAGCCCTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGATGAAACCCTATCTGTACTAAAAATACCAAAATTAGCCAGGTGTGATGGCACATGCCTGTAATCTCAGCTACTAAGGAGGCTGAGGCAGGAGAATCACTTGAACTCAGGAGTTGGAGATTGCAGTGAGCCCAGATTACGCCACTGCACTCCAGCCTAGGCAACAGAGTGAGACTACTCTGTCTCTTAAAAAAAAAAAAAAAAACCAAAAAAAAAAACCACGTCTGAAATGTTTGGATTGTTAAGCAGATTGACTTGGGGGCTTTGATTATATAGCTGATTTCATAACTGCACTAATTGTTAAAGTGTTTGGGAGGTGTTGTTTTGGTGCTTGTTATGTGAAAATAAAGTGACTGTAAAACGATTTTTTTTTTTTTGAGACAAAGTTTCGCTTTTGCTGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACTTCCACCTCCTGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGTGCCACCACGCCCAGTTAATTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGTTGATCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACCGCACCCGGCCAATTTTTTTTTCTTTTTTGAGACAGAGTCTTGCTCTGTGGCCCAGGCTAGAGTACAGTGGCGCGATCTCGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGAATTATAGGCATGTGTTACCATGCCCAGCTAATTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCGCCCAGGCTAGAGTGTAATGGCACAATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCCACCACCATGCCCAGCTAATTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCGGCCACACCCAGCTAATTTTTGTATTTTTTGTAGAGAGGGGGTTTCACCATATAGGCAAGTCAGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCACGCCCAGCCTTAAACAGTTTTTTGAAAGATAATTTATAGGCCGGGTGCAGTGTCTCATTCCTGTAAACCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAAGTCAGGAGCCATGGCGAAACCCCGTCTGTACTAAAAATAC | CACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTTCTGTTCAGCACTAGATGATATTCTTGGGGGTGGAGTGCCCTTAATGAAAACAACAGAAATTTGTGGTGCACCAGGTGTTGGAAAAACACAATTATGGTAAAATAAAGTGTTCTCCTTTTAAGGGTGGGTTTAATAACATATTATGAAAGTAGTATTTTGTACTATCGTCAGGAAACCAAATAAGATATATATGTGCTCTTAATTTTAAGTGTGTATGTGCATTAAACAAAAATTAGCTTACTATTTGTGTTACTTCATTATCCCTTCTTGATAAATGTATGCAATTATTCTGATGTGAAAAAGTGTTTCTTTTGCAAATTGTACTGCAGTCATAAGGTTAAACAGGAAGTTTCTGCGTTATTCATTCCTGAGACTATATTTGAAAGTCAGATGTTTGAAAGTAGATTTATGGCTAGGGGTAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGGCCTGCCTGGGCAACATAGTGAGACCTCGTCTCTACTAAAAATGGAAAATTAGCTGAGTGTGGTGGCACATGCCTGTGGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGCCGGGGAGGTCAAAACTGCAGTGAGCCTTAATCACATCACTGGGCAGCAGAGTGAGACCCTATCTCAAAAAAAAAAGAGGCCGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGTCAACATGGCGAAACCCCATCTCTACTAAAAATAAAAAAATTAGCCAGGCATGGTGGTTCACGCCTATAGTCTCAGCTCCTCGGGAGGCTGAGGCAGGAGAATCGCTTGTACTTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCTTGGGTGACAGAGCAAGACTCTGTCTCAAAAGAAAAAAAAAAAAGGTAGATTTATGTATAATAAGGGGCTCCATTTTGAGAGGCCTGGAAATGATTAAAATATTCTTAATTGGCTGGGCGCAGTGGCTGACGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAAATACAAAGAATTAGCCGGGCGTGGTGGCGGGTGCTTGTAGTCCTAGCTACTCGGGCAGCTGAGGCAGGAGAATGGCGTAAACCTGGGAGGCGGAGCTTGCAGTGAGCCTGGATCACGTCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAACATAAATAAAATAAAATAAAATATCCTTAATCTTGGTTTTATAGGCATGCCCTCCCCGAATCCAGTTGATTTACATATAGTCGATTGGTTCACATTATATCTGGAGTCATGAAGAGTTAGACATTTCTGTTGCCTTGGGGAGTATATTTACATTTATAAAACTTTAGTGATACCTAACTTGTCATTATCTGGAGTTCAAAAACACTACCTTAGATCATCATCATGATTTGGTTGTTTGTCATCTTTCTGTTGACAGTATGCAGTTGGCAGTAGATGTGCAGATAACCAGAATGTTTTGGAGGAGTGGCAGGTGAAGCAGTTTTTATTGATACAGAGGGAAGTTTTATGGTTGATAGAGTGGTAGACCTTGCTACTGCCTGCATTCAGCACCTTCAGCTTATAGCAGAAAAACACAAGGGAGAGGGTAAGTTAGTAAATGATCTTCTTTTTTTCTGTATTAATAAAAGTAATTTGCATTTGTGCCCATCTGAGACCTCAGCAACACTCCATTTGGAATGTGAAGCCTAATTACTGGACAGTTAACTAGTGTTAAACTCTTTTACTACTGTTACAAAATGAGAAATGCCACAGCCTGGACTGGCTTTTTTTTGTTCCCCTTTTATGGCCCTCACTTCTTCCTGTAGGAGCTTTGGGACAAAACCTATGTATGTATTTCAGTCATCATACTCCATCTTATCAGGTGTAAGTTAACGGTGCCGGACACCTTAATATAAGCAACTGTTGTTAAATGCTTTCCAATGTATAAGGACTTCCATATTGGTTTTCCAAAAACCAAAGGTAGCTTTGAAAACCACGTCTGAGGCCGGATGCAGTGCTCATGCCTGTAATCCCAGCCCTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGATGAAACCCTATCTGTACTAAAAATACCAAAATTAGCCAGGTGTGATGGCACATGCCTGTAATCTCAGCTACTAAGGAGGCTGAGGCAGGAGAATCACTTGAACTCAGGAGTTGGAGATTGCAGTGAGCCCAGATTACGCCACTGCACTCCAGCCTAGGCAACAGAGTGAGACTACTCTGTCTCTTAAAAAAAAAAAAAAAAACCAAAAAAAAAAACCACGTCTGAAATGTTTGGATTGTTAAGCAGATTGACTTGGGGGCTTTGATTATATAGCTGATTTCATAACTGCACTAATTGTTAAAGTGTTTGGGAGGTGTTGTTTTGGTGCTTGTTATGTGAAAATAAAGTGACTGTAAAACGATTTTTTTTTTTTTGAGACAAAGTTTCGCTTTTGCTGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACTTCCACCTCCTGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGTGCCACCACGCCCAGTTAATTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGTTGATCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACCGCACCCGGCCAATTTTTTTTTCTTTTTTGAGACAGAGTCTTGCTCTGTGGCCCAGGCTAGAGTACAGTGGCGCGATCTCGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGAATTATAGGCATGTGTTACCATGCCCAGCTAATTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCGCCCAGGCTAGAGTGTAATGGCACAATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCCACCACCATGCCCAGCTAATTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCGGCCACACCCAGCTAATTTTTGTATTTTTTGTAGAGAGGGGGTTTCACCATATAGGCAAGTCAGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCACGCCCAGCCTTAAACAGTTTTTTGAAAGATAATTTATAGGCCGGGTGCAGTGTCTCATTCCTGTAAACCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAAGTCAGGAGCCATGGCGAAACCCCGTCTGTACTAAAAATA | pathogenic | 279,743 |
Gene RAD51C (RAD51 paralog C) variant at chromosome 17, position 58696728—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Fanconi_anemia_complementation_group_O', 'Hereditary_cancer-predisposing_syndrome'] | GGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTTCTGTTCAGCACTAGATGATATTCTTGGGGGTGGAGTGCCCTTAATGAAAACAACAGAAATTTGTGGTGCACCAGGTGTTGGAAAAACACAATTATGGTAAAATAAAGTGTTCTCCTTTTAAGGGTGGGTTTAATAACATATTATGAAAGTAGTATTTTGTACTATCGTCAGGAAACCAAATAAGATATATATGTGCTCTTAATTTTAAGTGTGTATGTGCATTAAACAAAAATTAGCTTACTATTTGTGTTACTTCATTATCCCTTCTTGATAAATGTATGCAATTATTCTGATGTGAAAAAGTGTTTCTTTTGCAAATTGTACTGCAGTCATAAGGTTAAACAGGAAGTTTCTGCGTTATTCATTCCTGAGACTATATTTGAAAGTCAGATGTTTGAAAGTAGATTTATGGCTAGGGGTAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGGCCTGCCTGGGCAACATAGTGAGACCTCGTCTCTACTAAAAATGGAAAATTAGCTGAGTGTGGTGGCACATGCCTGTGGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGCCGGGGAGGTCAAAACTGCAGTGAGCCTTAATCACATCACTGGGCAGCAGAGTGAGACCCTATCTCAAAAAAAAAAGAGGCCGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGTCAACATGGCGAAACCCCATCTCTACTAAAAATAAAAAAATTAGCCAGGCATGGTGGTTCACGCCTATAGTCTCAGCTCCTCGGGAGGCTGAGGCAGGAGAATCGCTTGTACTTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCTTGGGTGACAGAGCAAGACTCTGTCTCAAAAGAAAAAAAAAAAAGGTAGATTTATGTATAATAAGGGGCTCCATTTTGAGAGGCCTGGAAATGATTAAAATATTCTTAATTGGCTGGGCGCAGTGGCTGACGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAAATACAAAGAATTAGCCGGGCGTGGTGGCGGGTGCTTGTAGTCCTAGCTACTCGGGCAGCTGAGGCAGGAGAATGGCGTAAACCTGGGAGGCGGAGCTTGCAGTGAGCCTGGATCACGTCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAACATAAATAAAATAAAATAAAATATCCTTAATCTTGGTTTTATAGGCATGCCCTCCCCGAATCCAGTTGATTTACATATAGTCGATTGGTTCACATTATATCTGGAGTCATGAAGAGTTAGACATTTCTGTTGCCTTGGGGAGTATATTTACATTTATAAAACTTTAGTGATACCTAACTTGTCATTATCTGGAGTTCAAAAACACTACCTTAGATCATCATCATGATTTGGTTGTTTGTCATCTTTCTGTTGACAGTATGCAGTTGGCAGTAGATGTGCAGATACCAGAATGTTTTGGAGGAGTGGCAGGTGAAGCAGTTTTTATTGATACAGAGGGAAGTTTTATGGTTGATAGAGTGGTAGACCTTGCTACTGCCTGCATTCAGCACCTTCAGCTTATAGCAGAAAAACACAAGGGAGAGGGTAAGTTAGTAAATGATCTTCTTTTTTTCTGTATTAATAAAAGTAATTTGCATTTGTGCCCATCTGAGACCTCAGCAACACTCCATTTGGAATGTGAAGCCTAATTACTGGACAGTTAACTAGTGTTAAACTCTTTTACTACTGTTACAAAATGAGAAATGCCACAGCCTGGACTGGCTTTTTTTTGTTCCCCTTTTATGGCCCTCACTTCTTCCTGTAGGAGCTTTGGGACAAAACCTATGTATGTATTTCAGTCATCATACTCCATCTTATCAGGTGTAAGTTAACGGTGCCGGACACCTTAATATAAGCAACTGTTGTTAAATGCTTTCCAATGTATAAGGACTTCCATATTGGTTTTCCAAAAACCAAAGGTAGCTTTGAAAACCACGTCTGAGGCCGGATGCAGTGCTCATGCCTGTAATCCCAGCCCTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGATGAAACCCTATCTGTACTAAAAATACCAAAATTAGCCAGGTGTGATGGCACATGCCTGTAATCTCAGCTACTAAGGAGGCTGAGGCAGGAGAATCACTTGAACTCAGGAGTTGGAGATTGCAGTGAGCCCAGATTACGCCACTGCACTCCAGCCTAGGCAACAGAGTGAGACTACTCTGTCTCTTAAAAAAAAAAAAAAAAACCAAAAAAAAAAACCACGTCTGAAATGTTTGGATTGTTAAGCAGATTGACTTGGGGGCTTTGATTATATAGCTGATTTCATAACTGCACTAATTGTTAAAGTGTTTGGGAGGTGTTGTTTTGGTGCTTGTTATGTGAAAATAAAGTGACTGTAAAACGATTTTTTTTTTTTTGAGACAAAGTTTCGCTTTTGCTGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACTTCCACCTCCTGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGTGCCACCACGCCCAGTTAATTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGTTGATCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACCGCACCCGGCCAATTTTTTTTTCTTTTTTGAGACAGAGTCTTGCTCTGTGGCCCAGGCTAGAGTACAGTGGCGCGATCTCGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGAATTATAGGCATGTGTTACCATGCCCAGCTAATTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCGCCCAGGCTAGAGTGTAATGGCACAATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCCACCACCATGCCCAGCTAATTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCGGCCACACCCAGCTAATTTTTGTATTTTTTGTAGAGAGGGGGTTTCACCATATAGGCAAGTCAGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCACGCCCAGCCTTAAACAGTTTTTTGAAAGATAATTTATAGGCCGGGTGCAGTGTCTCATTCCTGTAAACCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAAGTCAGGAGCCATGGCGAAACCCCGTCTGTACTAAAAATACAAAAAATTA | GGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTTCTGTTCAGCACTAGATGATATTCTTGGGGGTGGAGTGCCCTTAATGAAAACAACAGAAATTTGTGGTGCACCAGGTGTTGGAAAAACACAATTATGGTAAAATAAAGTGTTCTCCTTTTAAGGGTGGGTTTAATAACATATTATGAAAGTAGTATTTTGTACTATCGTCAGGAAACCAAATAAGATATATATGTGCTCTTAATTTTAAGTGTGTATGTGCATTAAACAAAAATTAGCTTACTATTTGTGTTACTTCATTATCCCTTCTTGATAAATGTATGCAATTATTCTGATGTGAAAAAGTGTTTCTTTTGCAAATTGTACTGCAGTCATAAGGTTAAACAGGAAGTTTCTGCGTTATTCATTCCTGAGACTATATTTGAAAGTCAGATGTTTGAAAGTAGATTTATGGCTAGGGGTAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGGCCTGCCTGGGCAACATAGTGAGACCTCGTCTCTACTAAAAATGGAAAATTAGCTGAGTGTGGTGGCACATGCCTGTGGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGCCGGGGAGGTCAAAACTGCAGTGAGCCTTAATCACATCACTGGGCAGCAGAGTGAGACCCTATCTCAAAAAAAAAAGAGGCCGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGTCAACATGGCGAAACCCCATCTCTACTAAAAATAAAAAAATTAGCCAGGCATGGTGGTTCACGCCTATAGTCTCAGCTCCTCGGGAGGCTGAGGCAGGAGAATCGCTTGTACTTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCTTGGGTGACAGAGCAAGACTCTGTCTCAAAAGAAAAAAAAAAAAGGTAGATTTATGTATAATAAGGGGCTCCATTTTGAGAGGCCTGGAAATGATTAAAATATTCTTAATTGGCTGGGCGCAGTGGCTGACGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAAATACAAAGAATTAGCCGGGCGTGGTGGCGGGTGCTTGTAGTCCTAGCTACTCGGGCAGCTGAGGCAGGAGAATGGCGTAAACCTGGGAGGCGGAGCTTGCAGTGAGCCTGGATCACGTCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAACATAAATAAAATAAAATAAAATATCCTTAATCTTGGTTTTATAGGCATGCCCTCCCCGAATCCAGTTGATTTACATATAGTCGATTGGTTCACATTATATCTGGAGTCATGAAGAGTTAGACATTTCTGTTGCCTTGGGGAGTATATTTACATTTATAAAACTTTAGTGATACCTAACTTGTCATTATCTGGAGTTCAAAAACACTACCTTAGATCATCATCATGATTTGGTTGTTTGTCATCTTTCTGTTGACAGTATGCAGTTGGCAGTAGATGTGCAGATACCAGAATGTTTTTGGAGGAGTGGCAGGTGAAGCAGTTTTTATTGATACAGAGGGAAGTTTTATGGTTGATAGAGTGGTAGACCTTGCTACTGCCTGCATTCAGCACCTTCAGCTTATAGCAGAAAAACACAAGGGAGAGGGTAAGTTAGTAAATGATCTTCTTTTTTTCTGTATTAATAAAAGTAATTTGCATTTGTGCCCATCTGAGACCTCAGCAACACTCCATTTGGAATGTGAAGCCTAATTACTGGACAGTTAACTAGTGTTAAACTCTTTTACTACTGTTACAAAATGAGAAATGCCACAGCCTGGACTGGCTTTTTTTTGTTCCCCTTTTATGGCCCTCACTTCTTCCTGTAGGAGCTTTGGGACAAAACCTATGTATGTATTTCAGTCATCATACTCCATCTTATCAGGTGTAAGTTAACGGTGCCGGACACCTTAATATAAGCAACTGTTGTTAAATGCTTTCCAATGTATAAGGACTTCCATATTGGTTTTCCAAAAACCAAAGGTAGCTTTGAAAACCACGTCTGAGGCCGGATGCAGTGCTCATGCCTGTAATCCCAGCCCTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGATGAAACCCTATCTGTACTAAAAATACCAAAATTAGCCAGGTGTGATGGCACATGCCTGTAATCTCAGCTACTAAGGAGGCTGAGGCAGGAGAATCACTTGAACTCAGGAGTTGGAGATTGCAGTGAGCCCAGATTACGCCACTGCACTCCAGCCTAGGCAACAGAGTGAGACTACTCTGTCTCTTAAAAAAAAAAAAAAAAACCAAAAAAAAAAACCACGTCTGAAATGTTTGGATTGTTAAGCAGATTGACTTGGGGGCTTTGATTATATAGCTGATTTCATAACTGCACTAATTGTTAAAGTGTTTGGGAGGTGTTGTTTTGGTGCTTGTTATGTGAAAATAAAGTGACTGTAAAACGATTTTTTTTTTTTTGAGACAAAGTTTCGCTTTTGCTGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACTTCCACCTCCTGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGTGCCACCACGCCCAGTTAATTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGTTGATCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACCGCACCCGGCCAATTTTTTTTTCTTTTTTGAGACAGAGTCTTGCTCTGTGGCCCAGGCTAGAGTACAGTGGCGCGATCTCGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGAATTATAGGCATGTGTTACCATGCCCAGCTAATTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCGCCCAGGCTAGAGTGTAATGGCACAATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCCACCACCATGCCCAGCTAATTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCGGCCACACCCAGCTAATTTTTGTATTTTTTGTAGAGAGGGGGTTTCACCATATAGGCAAGTCAGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCACGCCCAGCCTTAAACAGTTTTTTGAAAGATAATTTATAGGCCGGGTGCAGTGTCTCATTCCTGTAAACCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAAGTCAGGAGCCATGGCGAAACCCCGTCTGTACTAAAAATACAAAAAATT | pathogenic | 279,745 |
Clinically, how would you classify the variant at chromosome 17, position 58696728, gene RAD51C (RAD51 paralog C): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Fanconi_anemia_complementation_group_O', 'Hereditary_cancer-predisposing_syndrome'] | GGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTTCTGTTCAGCACTAGATGATATTCTTGGGGGTGGAGTGCCCTTAATGAAAACAACAGAAATTTGTGGTGCACCAGGTGTTGGAAAAACACAATTATGGTAAAATAAAGTGTTCTCCTTTTAAGGGTGGGTTTAATAACATATTATGAAAGTAGTATTTTGTACTATCGTCAGGAAACCAAATAAGATATATATGTGCTCTTAATTTTAAGTGTGTATGTGCATTAAACAAAAATTAGCTTACTATTTGTGTTACTTCATTATCCCTTCTTGATAAATGTATGCAATTATTCTGATGTGAAAAAGTGTTTCTTTTGCAAATTGTACTGCAGTCATAAGGTTAAACAGGAAGTTTCTGCGTTATTCATTCCTGAGACTATATTTGAAAGTCAGATGTTTGAAAGTAGATTTATGGCTAGGGGTAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGGCCTGCCTGGGCAACATAGTGAGACCTCGTCTCTACTAAAAATGGAAAATTAGCTGAGTGTGGTGGCACATGCCTGTGGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGCCGGGGAGGTCAAAACTGCAGTGAGCCTTAATCACATCACTGGGCAGCAGAGTGAGACCCTATCTCAAAAAAAAAAGAGGCCGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGTCAACATGGCGAAACCCCATCTCTACTAAAAATAAAAAAATTAGCCAGGCATGGTGGTTCACGCCTATAGTCTCAGCTCCTCGGGAGGCTGAGGCAGGAGAATCGCTTGTACTTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCTTGGGTGACAGAGCAAGACTCTGTCTCAAAAGAAAAAAAAAAAAGGTAGATTTATGTATAATAAGGGGCTCCATTTTGAGAGGCCTGGAAATGATTAAAATATTCTTAATTGGCTGGGCGCAGTGGCTGACGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAAATACAAAGAATTAGCCGGGCGTGGTGGCGGGTGCTTGTAGTCCTAGCTACTCGGGCAGCTGAGGCAGGAGAATGGCGTAAACCTGGGAGGCGGAGCTTGCAGTGAGCCTGGATCACGTCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAACATAAATAAAATAAAATAAAATATCCTTAATCTTGGTTTTATAGGCATGCCCTCCCCGAATCCAGTTGATTTACATATAGTCGATTGGTTCACATTATATCTGGAGTCATGAAGAGTTAGACATTTCTGTTGCCTTGGGGAGTATATTTACATTTATAAAACTTTAGTGATACCTAACTTGTCATTATCTGGAGTTCAAAAACACTACCTTAGATCATCATCATGATTTGGTTGTTTGTCATCTTTCTGTTGACAGTATGCAGTTGGCAGTAGATGTGCAGATACCAGAATGTTTTGGAGGAGTGGCAGGTGAAGCAGTTTTTATTGATACAGAGGGAAGTTTTATGGTTGATAGAGTGGTAGACCTTGCTACTGCCTGCATTCAGCACCTTCAGCTTATAGCAGAAAAACACAAGGGAGAGGGTAAGTTAGTAAATGATCTTCTTTTTTTCTGTATTAATAAAAGTAATTTGCATTTGTGCCCATCTGAGACCTCAGCAACACTCCATTTGGAATGTGAAGCCTAATTACTGGACAGTTAACTAGTGTTAAACTCTTTTACTACTGTTACAAAATGAGAAATGCCACAGCCTGGACTGGCTTTTTTTTGTTCCCCTTTTATGGCCCTCACTTCTTCCTGTAGGAGCTTTGGGACAAAACCTATGTATGTATTTCAGTCATCATACTCCATCTTATCAGGTGTAAGTTAACGGTGCCGGACACCTTAATATAAGCAACTGTTGTTAAATGCTTTCCAATGTATAAGGACTTCCATATTGGTTTTCCAAAAACCAAAGGTAGCTTTGAAAACCACGTCTGAGGCCGGATGCAGTGCTCATGCCTGTAATCCCAGCCCTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGATGAAACCCTATCTGTACTAAAAATACCAAAATTAGCCAGGTGTGATGGCACATGCCTGTAATCTCAGCTACTAAGGAGGCTGAGGCAGGAGAATCACTTGAACTCAGGAGTTGGAGATTGCAGTGAGCCCAGATTACGCCACTGCACTCCAGCCTAGGCAACAGAGTGAGACTACTCTGTCTCTTAAAAAAAAAAAAAAAAACCAAAAAAAAAAACCACGTCTGAAATGTTTGGATTGTTAAGCAGATTGACTTGGGGGCTTTGATTATATAGCTGATTTCATAACTGCACTAATTGTTAAAGTGTTTGGGAGGTGTTGTTTTGGTGCTTGTTATGTGAAAATAAAGTGACTGTAAAACGATTTTTTTTTTTTTGAGACAAAGTTTCGCTTTTGCTGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACTTCCACCTCCTGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGTGCCACCACGCCCAGTTAATTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGTTGATCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACCGCACCCGGCCAATTTTTTTTTCTTTTTTGAGACAGAGTCTTGCTCTGTGGCCCAGGCTAGAGTACAGTGGCGCGATCTCGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGAATTATAGGCATGTGTTACCATGCCCAGCTAATTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCGCCCAGGCTAGAGTGTAATGGCACAATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCCACCACCATGCCCAGCTAATTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCGGCCACACCCAGCTAATTTTTGTATTTTTTGTAGAGAGGGGGTTTCACCATATAGGCAAGTCAGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCACGCCCAGCCTTAAACAGTTTTTTGAAAGATAATTTATAGGCCGGGTGCAGTGTCTCATTCCTGTAAACCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAAGTCAGGAGCCATGGCGAAACCCCGTCTGTACTAAAAATACAAAAAATTA | GGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTTCTGTTCAGCACTAGATGATATTCTTGGGGGTGGAGTGCCCTTAATGAAAACAACAGAAATTTGTGGTGCACCAGGTGTTGGAAAAACACAATTATGGTAAAATAAAGTGTTCTCCTTTTAAGGGTGGGTTTAATAACATATTATGAAAGTAGTATTTTGTACTATCGTCAGGAAACCAAATAAGATATATATGTGCTCTTAATTTTAAGTGTGTATGTGCATTAAACAAAAATTAGCTTACTATTTGTGTTACTTCATTATCCCTTCTTGATAAATGTATGCAATTATTCTGATGTGAAAAAGTGTTTCTTTTGCAAATTGTACTGCAGTCATAAGGTTAAACAGGAAGTTTCTGCGTTATTCATTCCTGAGACTATATTTGAAAGTCAGATGTTTGAAAGTAGATTTATGGCTAGGGGTAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGGCCTGCCTGGGCAACATAGTGAGACCTCGTCTCTACTAAAAATGGAAAATTAGCTGAGTGTGGTGGCACATGCCTGTGGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGCCGGGGAGGTCAAAACTGCAGTGAGCCTTAATCACATCACTGGGCAGCAGAGTGAGACCCTATCTCAAAAAAAAAAGAGGCCGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGTCAACATGGCGAAACCCCATCTCTACTAAAAATAAAAAAATTAGCCAGGCATGGTGGTTCACGCCTATAGTCTCAGCTCCTCGGGAGGCTGAGGCAGGAGAATCGCTTGTACTTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCTTGGGTGACAGAGCAAGACTCTGTCTCAAAAGAAAAAAAAAAAAGGTAGATTTATGTATAATAAGGGGCTCCATTTTGAGAGGCCTGGAAATGATTAAAATATTCTTAATTGGCTGGGCGCAGTGGCTGACGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAAATACAAAGAATTAGCCGGGCGTGGTGGCGGGTGCTTGTAGTCCTAGCTACTCGGGCAGCTGAGGCAGGAGAATGGCGTAAACCTGGGAGGCGGAGCTTGCAGTGAGCCTGGATCACGTCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAACATAAATAAAATAAAATAAAATATCCTTAATCTTGGTTTTATAGGCATGCCCTCCCCGAATCCAGTTGATTTACATATAGTCGATTGGTTCACATTATATCTGGAGTCATGAAGAGTTAGACATTTCTGTTGCCTTGGGGAGTATATTTACATTTATAAAACTTTAGTGATACCTAACTTGTCATTATCTGGAGTTCAAAAACACTACCTTAGATCATCATCATGATTTGGTTGTTTGTCATCTTTCTGTTGACAGTATGCAGTTGGCAGTAGATGTGCAGATACCAGAATGTTTGGAGGAGTGGCAGGTGAAGCAGTTTTTATTGATACAGAGGGAAGTTTTATGGTTGATAGAGTGGTAGACCTTGCTACTGCCTGCATTCAGCACCTTCAGCTTATAGCAGAAAAACACAAGGGAGAGGGTAAGTTAGTAAATGATCTTCTTTTTTTCTGTATTAATAAAAGTAATTTGCATTTGTGCCCATCTGAGACCTCAGCAACACTCCATTTGGAATGTGAAGCCTAATTACTGGACAGTTAACTAGTGTTAAACTCTTTTACTACTGTTACAAAATGAGAAATGCCACAGCCTGGACTGGCTTTTTTTTGTTCCCCTTTTATGGCCCTCACTTCTTCCTGTAGGAGCTTTGGGACAAAACCTATGTATGTATTTCAGTCATCATACTCCATCTTATCAGGTGTAAGTTAACGGTGCCGGACACCTTAATATAAGCAACTGTTGTTAAATGCTTTCCAATGTATAAGGACTTCCATATTGGTTTTCCAAAAACCAAAGGTAGCTTTGAAAACCACGTCTGAGGCCGGATGCAGTGCTCATGCCTGTAATCCCAGCCCTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGATGAAACCCTATCTGTACTAAAAATACCAAAATTAGCCAGGTGTGATGGCACATGCCTGTAATCTCAGCTACTAAGGAGGCTGAGGCAGGAGAATCACTTGAACTCAGGAGTTGGAGATTGCAGTGAGCCCAGATTACGCCACTGCACTCCAGCCTAGGCAACAGAGTGAGACTACTCTGTCTCTTAAAAAAAAAAAAAAAAACCAAAAAAAAAAACCACGTCTGAAATGTTTGGATTGTTAAGCAGATTGACTTGGGGGCTTTGATTATATAGCTGATTTCATAACTGCACTAATTGTTAAAGTGTTTGGGAGGTGTTGTTTTGGTGCTTGTTATGTGAAAATAAAGTGACTGTAAAACGATTTTTTTTTTTTTGAGACAAAGTTTCGCTTTTGCTGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACTTCCACCTCCTGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGTGCCACCACGCCCAGTTAATTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGTTGATCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACCGCACCCGGCCAATTTTTTTTTCTTTTTTGAGACAGAGTCTTGCTCTGTGGCCCAGGCTAGAGTACAGTGGCGCGATCTCGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGAATTATAGGCATGTGTTACCATGCCCAGCTAATTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCGCCCAGGCTAGAGTGTAATGGCACAATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCCACCACCATGCCCAGCTAATTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCGGCCACACCCAGCTAATTTTTGTATTTTTTGTAGAGAGGGGGTTTCACCATATAGGCAAGTCAGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCACGCCCAGCCTTAAACAGTTTTTTGAAAGATAATTTATAGGCCGGGTGCAGTGTCTCATTCCTGTAAACCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAAGTCAGGAGCCATGGCGAAACCCCGTCTGTACTAAAAATACAAAAAATTAN | pathogenic | 279,746 |
Gene RAD51C (RAD51 paralog C) variant at chromosome 17, position 58696735—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Fanconi_anemia_complementation_group_O', 'Hereditary_cancer-predisposing_syndrome'] | CTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTTCTGTTCAGCACTAGATGATATTCTTGGGGGTGGAGTGCCCTTAATGAAAACAACAGAAATTTGTGGTGCACCAGGTGTTGGAAAAACACAATTATGGTAAAATAAAGTGTTCTCCTTTTAAGGGTGGGTTTAATAACATATTATGAAAGTAGTATTTTGTACTATCGTCAGGAAACCAAATAAGATATATATGTGCTCTTAATTTTAAGTGTGTATGTGCATTAAACAAAAATTAGCTTACTATTTGTGTTACTTCATTATCCCTTCTTGATAAATGTATGCAATTATTCTGATGTGAAAAAGTGTTTCTTTTGCAAATTGTACTGCAGTCATAAGGTTAAACAGGAAGTTTCTGCGTTATTCATTCCTGAGACTATATTTGAAAGTCAGATGTTTGAAAGTAGATTTATGGCTAGGGGTAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGGCCTGCCTGGGCAACATAGTGAGACCTCGTCTCTACTAAAAATGGAAAATTAGCTGAGTGTGGTGGCACATGCCTGTGGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGCCGGGGAGGTCAAAACTGCAGTGAGCCTTAATCACATCACTGGGCAGCAGAGTGAGACCCTATCTCAAAAAAAAAAGAGGCCGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGTCAACATGGCGAAACCCCATCTCTACTAAAAATAAAAAAATTAGCCAGGCATGGTGGTTCACGCCTATAGTCTCAGCTCCTCGGGAGGCTGAGGCAGGAGAATCGCTTGTACTTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCTTGGGTGACAGAGCAAGACTCTGTCTCAAAAGAAAAAAAAAAAAGGTAGATTTATGTATAATAAGGGGCTCCATTTTGAGAGGCCTGGAAATGATTAAAATATTCTTAATTGGCTGGGCGCAGTGGCTGACGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAAATACAAAGAATTAGCCGGGCGTGGTGGCGGGTGCTTGTAGTCCTAGCTACTCGGGCAGCTGAGGCAGGAGAATGGCGTAAACCTGGGAGGCGGAGCTTGCAGTGAGCCTGGATCACGTCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAACATAAATAAAATAAAATAAAATATCCTTAATCTTGGTTTTATAGGCATGCCCTCCCCGAATCCAGTTGATTTACATATAGTCGATTGGTTCACATTATATCTGGAGTCATGAAGAGTTAGACATTTCTGTTGCCTTGGGGAGTATATTTACATTTATAAAACTTTAGTGATACCTAACTTGTCATTATCTGGAGTTCAAAAACACTACCTTAGATCATCATCATGATTTGGTTGTTTGTCATCTTTCTGTTGACAGTATGCAGTTGGCAGTAGATGTGCAGATACCAGAATGTTTTGGAGGAGTGGCAGGTGAAGCAGTTTTTATTGATACAGAGGGAAGTTTTATGGTTGATAGAGTGGTAGACCTTGCTACTGCCTGCATTCAGCACCTTCAGCTTATAGCAGAAAAACACAAGGGAGAGGGTAAGTTAGTAAATGATCTTCTTTTTTTCTGTATTAATAAAAGTAATTTGCATTTGTGCCCATCTGAGACCTCAGCAACACTCCATTTGGAATGTGAAGCCTAATTACTGGACAGTTAACTAGTGTTAAACTCTTTTACTACTGTTACAAAATGAGAAATGCCACAGCCTGGACTGGCTTTTTTTTGTTCCCCTTTTATGGCCCTCACTTCTTCCTGTAGGAGCTTTGGGACAAAACCTATGTATGTATTTCAGTCATCATACTCCATCTTATCAGGTGTAAGTTAACGGTGCCGGACACCTTAATATAAGCAACTGTTGTTAAATGCTTTCCAATGTATAAGGACTTCCATATTGGTTTTCCAAAAACCAAAGGTAGCTTTGAAAACCACGTCTGAGGCCGGATGCAGTGCTCATGCCTGTAATCCCAGCCCTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGATGAAACCCTATCTGTACTAAAAATACCAAAATTAGCCAGGTGTGATGGCACATGCCTGTAATCTCAGCTACTAAGGAGGCTGAGGCAGGAGAATCACTTGAACTCAGGAGTTGGAGATTGCAGTGAGCCCAGATTACGCCACTGCACTCCAGCCTAGGCAACAGAGTGAGACTACTCTGTCTCTTAAAAAAAAAAAAAAAAACCAAAAAAAAAAACCACGTCTGAAATGTTTGGATTGTTAAGCAGATTGACTTGGGGGCTTTGATTATATAGCTGATTTCATAACTGCACTAATTGTTAAAGTGTTTGGGAGGTGTTGTTTTGGTGCTTGTTATGTGAAAATAAAGTGACTGTAAAACGATTTTTTTTTTTTTGAGACAAAGTTTCGCTTTTGCTGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACTTCCACCTCCTGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGTGCCACCACGCCCAGTTAATTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGTTGATCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACCGCACCCGGCCAATTTTTTTTTCTTTTTTGAGACAGAGTCTTGCTCTGTGGCCCAGGCTAGAGTACAGTGGCGCGATCTCGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGAATTATAGGCATGTGTTACCATGCCCAGCTAATTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCGCCCAGGCTAGAGTGTAATGGCACAATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCCACCACCATGCCCAGCTAATTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCGGCCACACCCAGCTAATTTTTGTATTTTTTGTAGAGAGGGGGTTTCACCATATAGGCAAGTCAGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCACGCCCAGCCTTAAACAGTTTTTTGAAAGATAATTTATAGGCCGGGTGCAGTGTCTCATTCCTGTAAACCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAAGTCAGGAGCCATGGCGAAACCCCGTCTGTACTAAAAATACAAAAAATTAGCCGAGC | CTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTTCTGTTCAGCACTAGATGATATTCTTGGGGGTGGAGTGCCCTTAATGAAAACAACAGAAATTTGTGGTGCACCAGGTGTTGGAAAAACACAATTATGGTAAAATAAAGTGTTCTCCTTTTAAGGGTGGGTTTAATAACATATTATGAAAGTAGTATTTTGTACTATCGTCAGGAAACCAAATAAGATATATATGTGCTCTTAATTTTAAGTGTGTATGTGCATTAAACAAAAATTAGCTTACTATTTGTGTTACTTCATTATCCCTTCTTGATAAATGTATGCAATTATTCTGATGTGAAAAAGTGTTTCTTTTGCAAATTGTACTGCAGTCATAAGGTTAAACAGGAAGTTTCTGCGTTATTCATTCCTGAGACTATATTTGAAAGTCAGATGTTTGAAAGTAGATTTATGGCTAGGGGTAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGGCCTGCCTGGGCAACATAGTGAGACCTCGTCTCTACTAAAAATGGAAAATTAGCTGAGTGTGGTGGCACATGCCTGTGGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGCCGGGGAGGTCAAAACTGCAGTGAGCCTTAATCACATCACTGGGCAGCAGAGTGAGACCCTATCTCAAAAAAAAAAGAGGCCGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGTCAACATGGCGAAACCCCATCTCTACTAAAAATAAAAAAATTAGCCAGGCATGGTGGTTCACGCCTATAGTCTCAGCTCCTCGGGAGGCTGAGGCAGGAGAATCGCTTGTACTTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCTTGGGTGACAGAGCAAGACTCTGTCTCAAAAGAAAAAAAAAAAAGGTAGATTTATGTATAATAAGGGGCTCCATTTTGAGAGGCCTGGAAATGATTAAAATATTCTTAATTGGCTGGGCGCAGTGGCTGACGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAAATACAAAGAATTAGCCGGGCGTGGTGGCGGGTGCTTGTAGTCCTAGCTACTCGGGCAGCTGAGGCAGGAGAATGGCGTAAACCTGGGAGGCGGAGCTTGCAGTGAGCCTGGATCACGTCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAACATAAATAAAATAAAATAAAATATCCTTAATCTTGGTTTTATAGGCATGCCCTCCCCGAATCCAGTTGATTTACATATAGTCGATTGGTTCACATTATATCTGGAGTCATGAAGAGTTAGACATTTCTGTTGCCTTGGGGAGTATATTTACATTTATAAAACTTTAGTGATACCTAACTTGTCATTATCTGGAGTTCAAAAACACTACCTTAGATCATCATCATGATTTGGTTGTTTGTCATCTTTCTGTTGACAGTATGCAGTTGGCAGTAGATGTGCAGATACCAGAATGTTTTGGTGAGTGGCAGGTGAAGCAGTTTTTATTGATACAGAGGGAAGTTTTATGGTTGATAGAGTGGTAGACCTTGCTACTGCCTGCATTCAGCACCTTCAGCTTATAGCAGAAAAACACAAGGGAGAGGGTAAGTTAGTAAATGATCTTCTTTTTTTCTGTATTAATAAAAGTAATTTGCATTTGTGCCCATCTGAGACCTCAGCAACACTCCATTTGGAATGTGAAGCCTAATTACTGGACAGTTAACTAGTGTTAAACTCTTTTACTACTGTTACAAAATGAGAAATGCCACAGCCTGGACTGGCTTTTTTTTGTTCCCCTTTTATGGCCCTCACTTCTTCCTGTAGGAGCTTTGGGACAAAACCTATGTATGTATTTCAGTCATCATACTCCATCTTATCAGGTGTAAGTTAACGGTGCCGGACACCTTAATATAAGCAACTGTTGTTAAATGCTTTCCAATGTATAAGGACTTCCATATTGGTTTTCCAAAAACCAAAGGTAGCTTTGAAAACCACGTCTGAGGCCGGATGCAGTGCTCATGCCTGTAATCCCAGCCCTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGATGAAACCCTATCTGTACTAAAAATACCAAAATTAGCCAGGTGTGATGGCACATGCCTGTAATCTCAGCTACTAAGGAGGCTGAGGCAGGAGAATCACTTGAACTCAGGAGTTGGAGATTGCAGTGAGCCCAGATTACGCCACTGCACTCCAGCCTAGGCAACAGAGTGAGACTACTCTGTCTCTTAAAAAAAAAAAAAAAAACCAAAAAAAAAAACCACGTCTGAAATGTTTGGATTGTTAAGCAGATTGACTTGGGGGCTTTGATTATATAGCTGATTTCATAACTGCACTAATTGTTAAAGTGTTTGGGAGGTGTTGTTTTGGTGCTTGTTATGTGAAAATAAAGTGACTGTAAAACGATTTTTTTTTTTTTGAGACAAAGTTTCGCTTTTGCTGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACTTCCACCTCCTGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGTGCCACCACGCCCAGTTAATTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGTTGATCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACCGCACCCGGCCAATTTTTTTTTCTTTTTTGAGACAGAGTCTTGCTCTGTGGCCCAGGCTAGAGTACAGTGGCGCGATCTCGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGAATTATAGGCATGTGTTACCATGCCCAGCTAATTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCGCCCAGGCTAGAGTGTAATGGCACAATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCCACCACCATGCCCAGCTAATTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCGGCCACACCCAGCTAATTTTTGTATTTTTTGTAGAGAGGGGGTTTCACCATATAGGCAAGTCAGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCACGCCCAGCCTTAAACAGTTTTTTGAAAGATAATTTATAGGCCGGGTGCAGTGTCTCATTCCTGTAAACCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAAGTCAGGAGCCATGGCGAAACCCCGTCTGTACTAAAAATACAAAAAATTAGCCGAGCN | pathogenic | 279,748 |
Subsets and Splits
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