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 |
|---|---|---|---|---|---|
Clinically, how would you classify the variant at chromosome 9, position 133356366, gene SURF1: benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | TTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGAGTTACGCACACCAGATGCCGGTCTTTACCTGCCATGTCCCCAAGCCAAAGGCAGTCACAGGGATGAGGAGCAGGACCCACTGAAGAAAGGAGTCATCTTCCGCTTTTGTGGCAGATGCTTCTGCTGCAGAACTGCCACATCTGCTTGGCCTCCAGGCCACCCCTGGAGAGTTTCACAACACTGACATGGAGCCAGAAGCCCTCGAACACAGACCTGGAGCAGCCCGTTCCAAGACAGACTCCAGTACTGCCAATCAAAACCTGCTGCCTAGAGCCAACTAGCAGCACCTGTATCCAGCCCAGCTCCTAACCCGGTGCCCAGAACAAGGCACACACAGTACGTCTGCCAAGTGAGTAAGTGGGATCTAGGGCTCAGTGCCGGTTTGACCACCAACCACGACCCTGAGTAACTCATGCCTTTTTACTCAAGAATCTAGATGTATTCCACTGCACTAAGATGCACCATTCATCCATTCAAAATGCATTTAATAAGCAGCTACAGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCCATCTCTACAAAAAAATGCAAAAATTAGCTGAGCACGATGGTGCTTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTGGTTGCTGTAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAATAAAAAATAAGCAGCTACAGTTACTAAGTAGCTTAGTCAGGCACTAGTGGTTGTTGTGTTATGTAGAAAAATATATCAATTCAGTAATGGCTCACAGAGCTCTCTTAACAGCTTTCCATTTTTACAACTCATCGTAAATGTAAAGAGGGAAGAATGTACACAGAAAGTGCCTTTAAGCTCTCAGAGGATGAGTTCCATCCGCTGAAAAGCACCAGGGGCCTTGCGGATACTATTTTTTTTTTTTTTTTTATAAAAAGGCAGGCCTGGGGCAGGCTTGCACAGCACTCTACACACGGCAAAACAGCCCTGTGCTGCACACTGAGAGGAACACGTAAGCCGCGGTGGTTAGATACGCTTTACTTTCAGAGCCCTGGGCTTTCAGCCTGGGCTGGCCACCCATTAGCTGGATGGGACGTTCGGAAGTAACTCTCGAGCCTTCTCTGTAACAGGGGAACGACCAAGGAGCTACCTCTCGCGTTGTGAGGACAAAGCGCTCGCTACATGCCCGGCACACGACCACAATTCCACTGAAAGCATTTTAATACGGAACTTGTCACTCCCAGGGAGCCTCCGCTCAGCCGGCAGTTGGTTCATTTCAATCCCCACGACAACCCTTCAAAGTGCAGGGCAGACAGCAGGTGGCTCTGCCCAGGCGCCTGGATCACAGCCCGGCCTGCAGCCCTCACCTGGGCGCGGGGAGACCCTGAGGACGCTCCTCCAGGCGGCGCTGGCCGGGGCCTGCGGACACGGACGGGCGGGCTGAGCTCCGGGACCCCTCCCCGCGCCCCGCACCCCGCACCCCGCACCCGGCGCTCACCCGTCCCAGCCCCGCCGCCCGCAGCCCCAGCTGCAACGCAGCCACCGCCGCCATCGCACCCGGCCCCGCGGGCGCTTCCGGGACGCAGGAAGCATCTGCATCCGGGGCGCCGCTGAGTCCCGCCCAGAGCCCCGCCCCCGGCTCCAGGTTCTGCGAGCGGCTTCCGCCGGGCTGCTCCGCGGGCGCGTCGGCCATGAGCGAGTTGCCGGGCGACGTGCGGGCGTTTCTGCGGGAGCACCCGAGCCTGCGGCTCCAGACGGACGCCCGCAAGGTTCGCAGCGCGGGAGGGGAACGGAGTGGCGGAGAAGGGCGCAGTTGGGATGAGGGGCTGAGGGGAGGGCAGGGGAGAGGAGAGGGCAGGGGAGAGGGGAGAGGGGAGAGCAGGAGAGAGGGGAGGGCAGGGGAGAGGGCGCGGCGGGATCAGGGGAGGAGAGGGAAGGGGGCGCGGCAGGAGGGGGCACCAGGGAGCGGAGCCCTGGCCCTCCTGACGTCCTGCCCGCCCACGCGTCCGCAGGTGAGGTGCATCCTGACAGGTCACGAGCTGCCCTGCCGCCTGCCGGAGCTCCAGGTCTACACCCGCGGCAAAAAGTACCAGCGGCTGGTCCGCGCCTCCCCGGCCTTCGACTATGCAGAGTTCGAGCCGCACATCGTGCCCAGCACCAAGAACCCGTAGGTGGTCCGCGGCGGCGCGGGGAGGCCCAGGGCAATTAGGACAGCCCCTCCGCTGGACTCCGCCAGTGCTGCAGCCCCTACTCTTTCAGAGTTGGGAGCCCTGGGACCCAGGTGGGCGCCCGGGTGCTGGAATCACCTGCGGTCCCAGCGGCGAGGCCTCTTGGTGAGCTCGTTTGCTCACCTGAGGTTTGTCCTGTGGGGTGTGGCTGCTTCCCAGATGAGTAGAGGCTTGTGATTTGTCACCTGAGGTTGTGAACAGCGTTGGGTTCTTCCCTTAACCCCAGAAGGGGTCTTTGATTTAGCTGGGAGCTAGGCTTTGTAATAATCGTCAAAACAGAGATAGGATGTTTCCATTCATTGAGCCCTTGCTCCAGGTGGAGCCATCCTCTTGCATGAACTCATCCTGGAGCAGTCAGTGAGGCTGCCATGCGTGCTTTTCCGGTAAACATTAAGAGGCTGCAGTCGGCCTGGGTCAGACGGTTCCCCACCCAGCTTCAGAGTGGAATTGCTCCGGGAGCCTTTAAAAGCCCGATGTCCAAGCCGCATGGTAGACTGTCCAGGGATGAGTCCAAGACACAGCCACCAGTCTGAATCCTTGCTGTGAACTGTCCCTACAAATTTGGTCTCTCTGCTCTGTAGGCACCAGTTGTTCTGCAAACTCACCCTGCGGCACATCAACAAGTGCCCAGAACACGTGCTGAGGCACACCCAGGGCCGGCGGTACCAGCGAGCTCTGTGTAAATGTAAGTCCCAGTGGACCCCCATCAGTGCATCGCCATCTGAGTGCATGCCCGCCTTGCCCCAGATGGAGCGTGCTTGAAGGCAGGTCGTCCTTCAGCGATCCGTGTTGATGCATCAGGCCTGTTTTTTGGCACAGTGAAGAGAGGGATGATGGCCCCTGACCCCACAGCTTTTAGTGCAGGCAGGCACAGAGCCAGAAGCAGGCTCGGGAGTGAGTGAGTGTGCGTGGCAATGCGAGGTGTGAAAGAAACTGGGCGAGGGATGTGGGGTGGGCTTGCGGAGACAGGAGGGCTGGGGAGACTCGCTGAGGGATTCGCTCGAGGCTGAGGCTGGAGGGATGTGGTGGCAGTGGGGTCGGGGGAACAGCACCCCAGGGAGAAGCCAGGGTCCATGGAAGTCTGAGGCAAAAATGTGTTGGCTGAGGTAGGCTCCAAAGGACTGGCTGGGCTAGTGTGCACAGCCCGGATGACCCAGAGACCAGGCCAGGAGCACTGCAGTGGGTGTGTGGAGAGGGTTGGGTGGGGGCTGCATGGACAGTGTGCATGGTTGAGAAGGGAGGACTCCTTGACTGCGGTCATCCAGGAAAAGACGGTGGGTTTTG | TTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGAGTTACGCACACCAGATGCCGGTCTTTACCTGCCATGTCCCCAAGCCAAAGGCAGTCACAGGGATGAGGAGCAGGACCCACTGAAGAAAGGAGTCATCTTCCGCTTTTGTGGCAGATGCTTCTGCTGCAGAACTGCCACATCTGCTTGGCCTCCAGGCCACCCCTGGAGAGTTTCACAACACTGACATGGAGCCAGAAGCCCTCGAACACAGACCTGGAGCAGCCCGTTCCAAGACAGACTCCAGTACTGCCAATCAAAACCTGCTGCCTAGAGCCAACTAGCAGCACCTGTATCCAGCCCAGCTCCTAACCCGGTGCCCAGAACAAGGCACACACAGTACGTCTGCCAAGTGAGTAAGTGGGATCTAGGGCTCAGTGCCGGTTTGACCACCAACCACGACCCTGAGTAACTCATGCCTTTTTACTCAAGAATCTAGATGTATTCCACTGCACTAAGATGCACCATTCATCCATTCAAAATGCATTTAATAAGCAGCTACAGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCCATCTCTACAAAAAAATGCAAAAATTAGCTGAGCACGATGGTGCTTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTGGTTGCTGTAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAATAAAAAATAAGCAGCTACAGTTACTAAGTAGCTTAGTCAGGCACTAGTGGTTGTTGTGTTATGTAGAAAAATATATCAATTCAGTAATGGCTCACAGAGCTCTCTTAACAGCTTTCCATTTTTACAACTCATCGTAAATGTAAAGAGGGAAGAATGTACACAGAAAGTGCCTTTAAGCTCTCAGAGGATGAGTTCCATCCGCTGAAAAGCACCAGGGGCCTTGCGGATACTATTTTTTTTTTTTTTTTTATAAAAAGGCAGGCCTGGGGCAGGCTTGCACAGCACTCTACACACGGCAAAACAGCCCTGTGCTGCACACTGAGAGGAACACGTAAGCCGCGGTGGTTAGATACGCTTTACTTTCAGAGCCCTGGGCTTTCAGCCTGGGCTGGCCACCCATTAGCTGGATGGGACGTTCGGAAGTAACTCTCGAGCCTTCTCTGTAACAGGGGAACGACCAAGGAGCTACCTCTCGCGTTGTGAGGACAAAGCGCTCGCTACATGCCCGGCACACGACCACAATTCCACTGAAAGCATTTTAATACGGAACTTGTCACTCCCAGGGAGCCTCCGCTCAGCCGGCAGTTGGTTCATTTCAATCCCCACGACAACCCTTCAAAGTGCAGGGCAGACAGCAGGTGGCTCTGCCCAGGCGCCTGGATCACAGCCCGGCCTGCAGCCCTCACCTGGGCGCGGGGAGACCCTGAGGACGCTCCTCCAGGCGGCGCTGGCCGGGGCCTGCGGACACGGACGGGCGGGCTGAGCTCCGGGACCCCTCCCCGCGCCCCGCACCCCGCACCCCGCACCCCGCACCCCGCACCCGGCGCTCACCCGTCCCAGCCCCGCCGCCCGCAGCCCCAGCTGCAACGCAGCCACCGCCGCCATCGCACCCGGCCCCGCGGGCGCTTCCGGGACGCAGGAAGCATCTGCATCCGGGGCGCCGCTGAGTCCCGCCCAGAGCCCCGCCCCCGGCTCCAGGTTCTGCGAGCGGCTTCCGCCGGGCTGCTCCGCGGGCGCGTCGGCCATGAGCGAGTTGCCGGGCGACGTGCGGGCGTTTCTGCGGGAGCACCCGAGCCTGCGGCTCCAGACGGACGCCCGCAAGGTTCGCAGCGCGGGAGGGGAACGGAGTGGCGGAGAAGGGCGCAGTTGGGATGAGGGGCTGAGGGGAGGGCAGGGGAGAGGAGAGGGCAGGGGAGAGGGGAGAGGGGAGAGCAGGAGAGAGGGGAGGGCAGGGGAGAGGGCGCGGCGGGATCAGGGGAGGAGAGGGAAGGGGGCGCGGCAGGAGGGGGCACCAGGGAGCGGAGCCCTGGCCCTCCTGACGTCCTGCCCGCCCACGCGTCCGCAGGTGAGGTGCATCCTGACAGGTCACGAGCTGCCCTGCCGCCTGCCGGAGCTCCAGGTCTACACCCGCGGCAAAAAGTACCAGCGGCTGGTCCGCGCCTCCCCGGCCTTCGACTATGCAGAGTTCGAGCCGCACATCGTGCCCAGCACCAAGAACCCGTAGGTGGTCCGCGGCGGCGCGGGGAGGCCCAGGGCAATTAGGACAGCCCCTCCGCTGGACTCCGCCAGTGCTGCAGCCCCTACTCTTTCAGAGTTGGGAGCCCTGGGACCCAGGTGGGCGCCCGGGTGCTGGAATCACCTGCGGTCCCAGCGGCGAGGCCTCTTGGTGAGCTCGTTTGCTCACCTGAGGTTTGTCCTGTGGGGTGTGGCTGCTTCCCAGATGAGTAGAGGCTTGTGATTTGTCACCTGAGGTTGTGAACAGCGTTGGGTTCTTCCCTTAACCCCAGAAGGGGTCTTTGATTTAGCTGGGAGCTAGGCTTTGTAATAATCGTCAAAACAGAGATAGGATGTTTCCATTCATTGAGCCCTTGCTCCAGGTGGAGCCATCCTCTTGCATGAACTCATCCTGGAGCAGTCAGTGAGGCTGCCATGCGTGCTTTTCCGGTAAACATTAAGAGGCTGCAGTCGGCCTGGGTCAGACGGTTCCCCACCCAGCTTCAGAGTGGAATTGCTCCGGGAGCCTTTAAAAGCCCGATGTCCAAGCCGCATGGTAGACTGTCCAGGGATGAGTCCAAGACACAGCCACCAGTCTGAATCCTTGCTGTGAACTGTCCCTACAAATTTGGTCTCTCTGCTCTGTAGGCACCAGTTGTTCTGCAAACTCACCCTGCGGCACATCAACAAGTGCCCAGAACACGTGCTGAGGCACACCCAGGGCCGGCGGTACCAGCGAGCTCTGTGTAAATGTAAGTCCCAGTGGACCCCCATCAGTGCATCGCCATCTGAGTGCATGCCCGCCTTGCCCCAGATGGAGCGTGCTTGAAGGCAGGTCGTCCTTCAGCGATCCGTGTTGATGCATCAGGCCTGTTTTTTGGCACAGTGAAGAGAGGGATGATGGCCCCTGACCCCACAGCTTTTAGTGCAGGCAGGCACAGAGCCAGAAGCAGGCTCGGGAGTGAGTGAGTGTGCGTGGCAATGCGAGGTGTGAAAGAAACTGGGCGAGGGATGTGGGGTGGGCTTGCGGAGACAGGAGGGCTGGGGAGACTCGCTGAGGGATTCGCTCGAGGCTGAGGCTGGAGGGATGTGGTGGCAGTGGGGTCGGGGGAACAGCACCCCAGGGAGAAGCCAGGGTCCATGGAAGTCTGAGGCAAAAATGTGTTGGCTGAGGTAGGCTCCAAAGGACTGGCTGGGCTAGTGTGCACAGCCCGGATGACCCAGAGACCAGGCCAGGAGCACTGCAGTGGGTGTGTGGAGAGGGTTGGGTGGGGGCTGCATGGACAGTGTGCATGGTTGAGAAGGGAGGACTCCTTGACTGCGGTCATCCAGGAAAA | benign | 153,474 |
A genetic alteration at chromosome 9, position 133356377, in gene SURF1—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | CACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGAGTTACGCACACCAGATGCCGGTCTTTACCTGCCATGTCCCCAAGCCAAAGGCAGTCACAGGGATGAGGAGCAGGACCCACTGAAGAAAGGAGTCATCTTCCGCTTTTGTGGCAGATGCTTCTGCTGCAGAACTGCCACATCTGCTTGGCCTCCAGGCCACCCCTGGAGAGTTTCACAACACTGACATGGAGCCAGAAGCCCTCGAACACAGACCTGGAGCAGCCCGTTCCAAGACAGACTCCAGTACTGCCAATCAAAACCTGCTGCCTAGAGCCAACTAGCAGCACCTGTATCCAGCCCAGCTCCTAACCCGGTGCCCAGAACAAGGCACACACAGTACGTCTGCCAAGTGAGTAAGTGGGATCTAGGGCTCAGTGCCGGTTTGACCACCAACCACGACCCTGAGTAACTCATGCCTTTTTACTCAAGAATCTAGATGTATTCCACTGCACTAAGATGCACCATTCATCCATTCAAAATGCATTTAATAAGCAGCTACAGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCCATCTCTACAAAAAAATGCAAAAATTAGCTGAGCACGATGGTGCTTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTGGTTGCTGTAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAATAAAAAATAAGCAGCTACAGTTACTAAGTAGCTTAGTCAGGCACTAGTGGTTGTTGTGTTATGTAGAAAAATATATCAATTCAGTAATGGCTCACAGAGCTCTCTTAACAGCTTTCCATTTTTACAACTCATCGTAAATGTAAAGAGGGAAGAATGTACACAGAAAGTGCCTTTAAGCTCTCAGAGGATGAGTTCCATCCGCTGAAAAGCACCAGGGGCCTTGCGGATACTATTTTTTTTTTTTTTTTTATAAAAAGGCAGGCCTGGGGCAGGCTTGCACAGCACTCTACACACGGCAAAACAGCCCTGTGCTGCACACTGAGAGGAACACGTAAGCCGCGGTGGTTAGATACGCTTTACTTTCAGAGCCCTGGGCTTTCAGCCTGGGCTGGCCACCCATTAGCTGGATGGGACGTTCGGAAGTAACTCTCGAGCCTTCTCTGTAACAGGGGAACGACCAAGGAGCTACCTCTCGCGTTGTGAGGACAAAGCGCTCGCTACATGCCCGGCACACGACCACAATTCCACTGAAAGCATTTTAATACGGAACTTGTCACTCCCAGGGAGCCTCCGCTCAGCCGGCAGTTGGTTCATTTCAATCCCCACGACAACCCTTCAAAGTGCAGGGCAGACAGCAGGTGGCTCTGCCCAGGCGCCTGGATCACAGCCCGGCCTGCAGCCCTCACCTGGGCGCGGGGAGACCCTGAGGACGCTCCTCCAGGCGGCGCTGGCCGGGGCCTGCGGACACGGACGGGCGGGCTGAGCTCCGGGACCCCTCCCCGCGCCCCGCACCCCGCACCCCGCACCCGGCGCTCACCCGTCCCAGCCCCGCCGCCCGCAGCCCCAGCTGCAACGCAGCCACCGCCGCCATCGCACCCGGCCCCGCGGGCGCTTCCGGGACGCAGGAAGCATCTGCATCCGGGGCGCCGCTGAGTCCCGCCCAGAGCCCCGCCCCCGGCTCCAGGTTCTGCGAGCGGCTTCCGCCGGGCTGCTCCGCGGGCGCGTCGGCCATGAGCGAGTTGCCGGGCGACGTGCGGGCGTTTCTGCGGGAGCACCCGAGCCTGCGGCTCCAGACGGACGCCCGCAAGGTTCGCAGCGCGGGAGGGGAACGGAGTGGCGGAGAAGGGCGCAGTTGGGATGAGGGGCTGAGGGGAGGGCAGGGGAGAGGAGAGGGCAGGGGAGAGGGGAGAGGGGAGAGCAGGAGAGAGGGGAGGGCAGGGGAGAGGGCGCGGCGGGATCAGGGGAGGAGAGGGAAGGGGGCGCGGCAGGAGGGGGCACCAGGGAGCGGAGCCCTGGCCCTCCTGACGTCCTGCCCGCCCACGCGTCCGCAGGTGAGGTGCATCCTGACAGGTCACGAGCTGCCCTGCCGCCTGCCGGAGCTCCAGGTCTACACCCGCGGCAAAAAGTACCAGCGGCTGGTCCGCGCCTCCCCGGCCTTCGACTATGCAGAGTTCGAGCCGCACATCGTGCCCAGCACCAAGAACCCGTAGGTGGTCCGCGGCGGCGCGGGGAGGCCCAGGGCAATTAGGACAGCCCCTCCGCTGGACTCCGCCAGTGCTGCAGCCCCTACTCTTTCAGAGTTGGGAGCCCTGGGACCCAGGTGGGCGCCCGGGTGCTGGAATCACCTGCGGTCCCAGCGGCGAGGCCTCTTGGTGAGCTCGTTTGCTCACCTGAGGTTTGTCCTGTGGGGTGTGGCTGCTTCCCAGATGAGTAGAGGCTTGTGATTTGTCACCTGAGGTTGTGAACAGCGTTGGGTTCTTCCCTTAACCCCAGAAGGGGTCTTTGATTTAGCTGGGAGCTAGGCTTTGTAATAATCGTCAAAACAGAGATAGGATGTTTCCATTCATTGAGCCCTTGCTCCAGGTGGAGCCATCCTCTTGCATGAACTCATCCTGGAGCAGTCAGTGAGGCTGCCATGCGTGCTTTTCCGGTAAACATTAAGAGGCTGCAGTCGGCCTGGGTCAGACGGTTCCCCACCCAGCTTCAGAGTGGAATTGCTCCGGGAGCCTTTAAAAGCCCGATGTCCAAGCCGCATGGTAGACTGTCCAGGGATGAGTCCAAGACACAGCCACCAGTCTGAATCCTTGCTGTGAACTGTCCCTACAAATTTGGTCTCTCTGCTCTGTAGGCACCAGTTGTTCTGCAAACTCACCCTGCGGCACATCAACAAGTGCCCAGAACACGTGCTGAGGCACACCCAGGGCCGGCGGTACCAGCGAGCTCTGTGTAAATGTAAGTCCCAGTGGACCCCCATCAGTGCATCGCCATCTGAGTGCATGCCCGCCTTGCCCCAGATGGAGCGTGCTTGAAGGCAGGTCGTCCTTCAGCGATCCGTGTTGATGCATCAGGCCTGTTTTTTGGCACAGTGAAGAGAGGGATGATGGCCCCTGACCCCACAGCTTTTAGTGCAGGCAGGCACAGAGCCAGAAGCAGGCTCGGGAGTGAGTGAGTGTGCGTGGCAATGCGAGGTGTGAAAGAAACTGGGCGAGGGATGTGGGGTGGGCTTGCGGAGACAGGAGGGCTGGGGAGACTCGCTGAGGGATTCGCTCGAGGCTGAGGCTGGAGGGATGTGGTGGCAGTGGGGTCGGGGGAACAGCACCCCAGGGAGAAGCCAGGGTCCATGGAAGTCTGAGGCAAAAATGTGTTGGCTGAGGTAGGCTCCAAAGGACTGGCTGGGCTAGTGTGCACAGCCCGGATGACCCAGAGACCAGGCCAGGAGCACTGCAGTGGGTGTGTGGAGAGGGTTGGGTGGGGGCTGCATGGACAGTGTGCATGGTTGAGAAGGGAGGACTCCTTGACTGCGGTCATCCAGGAAAAGACGGTGGGTTTTGGGGGGAGAATT | CACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGAGTTACGCACACCAGATGCCGGTCTTTACCTGCCATGTCCCCAAGCCAAAGGCAGTCACAGGGATGAGGAGCAGGACCCACTGAAGAAAGGAGTCATCTTCCGCTTTTGTGGCAGATGCTTCTGCTGCAGAACTGCCACATCTGCTTGGCCTCCAGGCCACCCCTGGAGAGTTTCACAACACTGACATGGAGCCAGAAGCCCTCGAACACAGACCTGGAGCAGCCCGTTCCAAGACAGACTCCAGTACTGCCAATCAAAACCTGCTGCCTAGAGCCAACTAGCAGCACCTGTATCCAGCCCAGCTCCTAACCCGGTGCCCAGAACAAGGCACACACAGTACGTCTGCCAAGTGAGTAAGTGGGATCTAGGGCTCAGTGCCGGTTTGACCACCAACCACGACCCTGAGTAACTCATGCCTTTTTACTCAAGAATCTAGATGTATTCCACTGCACTAAGATGCACCATTCATCCATTCAAAATGCATTTAATAAGCAGCTACAGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCCATCTCTACAAAAAAATGCAAAAATTAGCTGAGCACGATGGTGCTTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTGGTTGCTGTAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAATAAAAAATAAGCAGCTACAGTTACTAAGTAGCTTAGTCAGGCACTAGTGGTTGTTGTGTTATGTAGAAAAATATATCAATTCAGTAATGGCTCACAGAGCTCTCTTAACAGCTTTCCATTTTTACAACTCATCGTAAATGTAAAGAGGGAAGAATGTACACAGAAAGTGCCTTTAAGCTCTCAGAGGATGAGTTCCATCCGCTGAAAAGCACCAGGGGCCTTGCGGATACTATTTTTTTTTTTTTTTTTATAAAAAGGCAGGCCTGGGGCAGGCTTGCACAGCACTCTACACACGGCAAAACAGCCCTGTGCTGCACACTGAGAGGAACACGTAAGCCGCGGTGGTTAGATACGCTTTACTTTCAGAGCCCTGGGCTTTCAGCCTGGGCTGGCCACCCATTAGCTGGATGGGACGTTCGGAAGTAACTCTCGAGCCTTCTCTGTAACAGGGGAACGACCAAGGAGCTACCTCTCGCGTTGTGAGGACAAAGCGCTCGCTACATGCCCGGCACACGACCACAATTCCACTGAAAGCATTTTAATACGGAACTTGTCACTCCCAGGGAGCCTCCGCTCAGCCGGCAGTTGGTTCATTTCAATCCCCACGACAACCCTTCAAAGTGCAGGGCAGACAGCAGGTGGCTCTGCCCAGGCGCCTGGATCACAGCCCGGCCTGCAGCCCTCACCTGGGCGCGGGGAGACCCTGAGGACGCTCCTCCAGGCGGCGCTGGCCGGGGCCTGCGGACACGGACGGGCGGGCTGAGCTCCGGGACCCCTCCCCGCGCCCCGCACCCCGCGCTCACCCGTCCCAGCCCCGCCGCCCGCAGCCCCAGCTGCAACGCAGCCACCGCCGCCATCGCACCCGGCCCCGCGGGCGCTTCCGGGACGCAGGAAGCATCTGCATCCGGGGCGCCGCTGAGTCCCGCCCAGAGCCCCGCCCCCGGCTCCAGGTTCTGCGAGCGGCTTCCGCCGGGCTGCTCCGCGGGCGCGTCGGCCATGAGCGAGTTGCCGGGCGACGTGCGGGCGTTTCTGCGGGAGCACCCGAGCCTGCGGCTCCAGACGGACGCCCGCAAGGTTCGCAGCGCGGGAGGGGAACGGAGTGGCGGAGAAGGGCGCAGTTGGGATGAGGGGCTGAGGGGAGGGCAGGGGAGAGGAGAGGGCAGGGGAGAGGGGAGAGGGGAGAGCAGGAGAGAGGGGAGGGCAGGGGAGAGGGCGCGGCGGGATCAGGGGAGGAGAGGGAAGGGGGCGCGGCAGGAGGGGGCACCAGGGAGCGGAGCCCTGGCCCTCCTGACGTCCTGCCCGCCCACGCGTCCGCAGGTGAGGTGCATCCTGACAGGTCACGAGCTGCCCTGCCGCCTGCCGGAGCTCCAGGTCTACACCCGCGGCAAAAAGTACCAGCGGCTGGTCCGCGCCTCCCCGGCCTTCGACTATGCAGAGTTCGAGCCGCACATCGTGCCCAGCACCAAGAACCCGTAGGTGGTCCGCGGCGGCGCGGGGAGGCCCAGGGCAATTAGGACAGCCCCTCCGCTGGACTCCGCCAGTGCTGCAGCCCCTACTCTTTCAGAGTTGGGAGCCCTGGGACCCAGGTGGGCGCCCGGGTGCTGGAATCACCTGCGGTCCCAGCGGCGAGGCCTCTTGGTGAGCTCGTTTGCTCACCTGAGGTTTGTCCTGTGGGGTGTGGCTGCTTCCCAGATGAGTAGAGGCTTGTGATTTGTCACCTGAGGTTGTGAACAGCGTTGGGTTCTTCCCTTAACCCCAGAAGGGGTCTTTGATTTAGCTGGGAGCTAGGCTTTGTAATAATCGTCAAAACAGAGATAGGATGTTTCCATTCATTGAGCCCTTGCTCCAGGTGGAGCCATCCTCTTGCATGAACTCATCCTGGAGCAGTCAGTGAGGCTGCCATGCGTGCTTTTCCGGTAAACATTAAGAGGCTGCAGTCGGCCTGGGTCAGACGGTTCCCCACCCAGCTTCAGAGTGGAATTGCTCCGGGAGCCTTTAAAAGCCCGATGTCCAAGCCGCATGGTAGACTGTCCAGGGATGAGTCCAAGACACAGCCACCAGTCTGAATCCTTGCTGTGAACTGTCCCTACAAATTTGGTCTCTCTGCTCTGTAGGCACCAGTTGTTCTGCAAACTCACCCTGCGGCACATCAACAAGTGCCCAGAACACGTGCTGAGGCACACCCAGGGCCGGCGGTACCAGCGAGCTCTGTGTAAATGTAAGTCCCAGTGGACCCCCATCAGTGCATCGCCATCTGAGTGCATGCCCGCCTTGCCCCAGATGGAGCGTGCTTGAAGGCAGGTCGTCCTTCAGCGATCCGTGTTGATGCATCAGGCCTGTTTTTTGGCACAGTGAAGAGAGGGATGATGGCCCCTGACCCCACAGCTTTTAGTGCAGGCAGGCACAGAGCCAGAAGCAGGCTCGGGAGTGAGTGAGTGTGCGTGGCAATGCGAGGTGTGAAAGAAACTGGGCGAGGGATGTGGGGTGGGCTTGCGGAGACAGGAGGGCTGGGGAGACTCGCTGAGGGATTCGCTCGAGGCTGAGGCTGGAGGGATGTGGTGGCAGTGGGGTCGGGGGAACAGCACCCCAGGGAGAAGCCAGGGTCCATGGAAGTCTGAGGCAAAAATGTGTTGGCTGAGGTAGGCTCCAAAGGACTGGCTGGGCTAGTGTGCACAGCCCGGATGACCCAGAGACCAGGCCAGGAGCACTGCAGTGGGTGTGTGGAGAGGGTTGGGTGGGGGCTGCATGGACAGTGTGCATGGTTGAGAAGGGAGGACTCCTTGACTGCGGTCATCCAGGAAAAGACGGTGGGTTTTGGGGGGAGAATTNNNNNNNNNNNNNN | benign | 153,475 |
Benign or pathogenic: chromosome 9, position 133356409, gene SURF1 (SURF1 cytochrome c oxidase assembly factor) variant? Disease(s) if pathogenic? | pathogenic; ['Charcot-Marie-Tooth_disease_type_4K', 'Leigh_syndrome', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1'] | TCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGAGTTACGCACACCAGATGCCGGTCTTTACCTGCCATGTCCCCAAGCCAAAGGCAGTCACAGGGATGAGGAGCAGGACCCACTGAAGAAAGGAGTCATCTTCCGCTTTTGTGGCAGATGCTTCTGCTGCAGAACTGCCACATCTGCTTGGCCTCCAGGCCACCCCTGGAGAGTTTCACAACACTGACATGGAGCCAGAAGCCCTCGAACACAGACCTGGAGCAGCCCGTTCCAAGACAGACTCCAGTACTGCCAATCAAAACCTGCTGCCTAGAGCCAACTAGCAGCACCTGTATCCAGCCCAGCTCCTAACCCGGTGCCCAGAACAAGGCACACACAGTACGTCTGCCAAGTGAGTAAGTGGGATCTAGGGCTCAGTGCCGGTTTGACCACCAACCACGACCCTGAGTAACTCATGCCTTTTTACTCAAGAATCTAGATGTATTCCACTGCACTAAGATGCACCATTCATCCATTCAAAATGCATTTAATAAGCAGCTACAGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCCATCTCTACAAAAAAATGCAAAAATTAGCTGAGCACGATGGTGCTTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTGGTTGCTGTAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAATAAAAAATAAGCAGCTACAGTTACTAAGTAGCTTAGTCAGGCACTAGTGGTTGTTGTGTTATGTAGAAAAATATATCAATTCAGTAATGGCTCACAGAGCTCTCTTAACAGCTTTCCATTTTTACAACTCATCGTAAATGTAAAGAGGGAAGAATGTACACAGAAAGTGCCTTTAAGCTCTCAGAGGATGAGTTCCATCCGCTGAAAAGCACCAGGGGCCTTGCGGATACTATTTTTTTTTTTTTTTTTATAAAAAGGCAGGCCTGGGGCAGGCTTGCACAGCACTCTACACACGGCAAAACAGCCCTGTGCTGCACACTGAGAGGAACACGTAAGCCGCGGTGGTTAGATACGCTTTACTTTCAGAGCCCTGGGCTTTCAGCCTGGGCTGGCCACCCATTAGCTGGATGGGACGTTCGGAAGTAACTCTCGAGCCTTCTCTGTAACAGGGGAACGACCAAGGAGCTACCTCTCGCGTTGTGAGGACAAAGCGCTCGCTACATGCCCGGCACACGACCACAATTCCACTGAAAGCATTTTAATACGGAACTTGTCACTCCCAGGGAGCCTCCGCTCAGCCGGCAGTTGGTTCATTTCAATCCCCACGACAACCCTTCAAAGTGCAGGGCAGACAGCAGGTGGCTCTGCCCAGGCGCCTGGATCACAGCCCGGCCTGCAGCCCTCACCTGGGCGCGGGGAGACCCTGAGGACGCTCCTCCAGGCGGCGCTGGCCGGGGCCTGCGGACACGGACGGGCGGGCTGAGCTCCGGGACCCCTCCCCGCGCCCCGCACCCCGCACCCCGCACCCGGCGCTCACCCGTCCCAGCCCCGCCGCCCGCAGCCCCAGCTGCAACGCAGCCACCGCCGCCATCGCACCCGGCCCCGCGGGCGCTTCCGGGACGCAGGAAGCATCTGCATCCGGGGCGCCGCTGAGTCCCGCCCAGAGCCCCGCCCCCGGCTCCAGGTTCTGCGAGCGGCTTCCGCCGGGCTGCTCCGCGGGCGCGTCGGCCATGAGCGAGTTGCCGGGCGACGTGCGGGCGTTTCTGCGGGAGCACCCGAGCCTGCGGCTCCAGACGGACGCCCGCAAGGTTCGCAGCGCGGGAGGGGAACGGAGTGGCGGAGAAGGGCGCAGTTGGGATGAGGGGCTGAGGGGAGGGCAGGGGAGAGGAGAGGGCAGGGGAGAGGGGAGAGGGGAGAGCAGGAGAGAGGGGAGGGCAGGGGAGAGGGCGCGGCGGGATCAGGGGAGGAGAGGGAAGGGGGCGCGGCAGGAGGGGGCACCAGGGAGCGGAGCCCTGGCCCTCCTGACGTCCTGCCCGCCCACGCGTCCGCAGGTGAGGTGCATCCTGACAGGTCACGAGCTGCCCTGCCGCCTGCCGGAGCTCCAGGTCTACACCCGCGGCAAAAAGTACCAGCGGCTGGTCCGCGCCTCCCCGGCCTTCGACTATGCAGAGTTCGAGCCGCACATCGTGCCCAGCACCAAGAACCCGTAGGTGGTCCGCGGCGGCGCGGGGAGGCCCAGGGCAATTAGGACAGCCCCTCCGCTGGACTCCGCCAGTGCTGCAGCCCCTACTCTTTCAGAGTTGGGAGCCCTGGGACCCAGGTGGGCGCCCGGGTGCTGGAATCACCTGCGGTCCCAGCGGCGAGGCCTCTTGGTGAGCTCGTTTGCTCACCTGAGGTTTGTCCTGTGGGGTGTGGCTGCTTCCCAGATGAGTAGAGGCTTGTGATTTGTCACCTGAGGTTGTGAACAGCGTTGGGTTCTTCCCTTAACCCCAGAAGGGGTCTTTGATTTAGCTGGGAGCTAGGCTTTGTAATAATCGTCAAAACAGAGATAGGATGTTTCCATTCATTGAGCCCTTGCTCCAGGTGGAGCCATCCTCTTGCATGAACTCATCCTGGAGCAGTCAGTGAGGCTGCCATGCGTGCTTTTCCGGTAAACATTAAGAGGCTGCAGTCGGCCTGGGTCAGACGGTTCCCCACCCAGCTTCAGAGTGGAATTGCTCCGGGAGCCTTTAAAAGCCCGATGTCCAAGCCGCATGGTAGACTGTCCAGGGATGAGTCCAAGACACAGCCACCAGTCTGAATCCTTGCTGTGAACTGTCCCTACAAATTTGGTCTCTCTGCTCTGTAGGCACCAGTTGTTCTGCAAACTCACCCTGCGGCACATCAACAAGTGCCCAGAACACGTGCTGAGGCACACCCAGGGCCGGCGGTACCAGCGAGCTCTGTGTAAATGTAAGTCCCAGTGGACCCCCATCAGTGCATCGCCATCTGAGTGCATGCCCGCCTTGCCCCAGATGGAGCGTGCTTGAAGGCAGGTCGTCCTTCAGCGATCCGTGTTGATGCATCAGGCCTGTTTTTTGGCACAGTGAAGAGAGGGATGATGGCCCCTGACCCCACAGCTTTTAGTGCAGGCAGGCACAGAGCCAGAAGCAGGCTCGGGAGTGAGTGAGTGTGCGTGGCAATGCGAGGTGTGAAAGAAACTGGGCGAGGGATGTGGGGTGGGCTTGCGGAGACAGGAGGGCTGGGGAGACTCGCTGAGGGATTCGCTCGAGGCTGAGGCTGGAGGGATGTGGTGGCAGTGGGGTCGGGGGAACAGCACCCCAGGGAGAAGCCAGGGTCCATGGAAGTCTGAGGCAAAAATGTGTTGGCTGAGGTAGGCTCCAAAGGACTGGCTGGGCTAGTGTGCACAGCCCGGATGACCCAGAGACCAGGCCAGGAGCACTGCAGTGGGTGTGTGGAGAGGGTTGGGTGGGGGCTGCATGGACAGTGTGCATGGTTGAGAAGGGAGGACTCCTTGACTGCGGTCATCCAGGAAAAGACGGTGGGTTTTGGGGGGAGAATTCAGAGTCCCTTTGAAGGTTTTAAGCTTGAGCT | TCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGAGTTACGCACACCAGATGCCGGTCTTTACCTGCCATGTCCCCAAGCCAAAGGCAGTCACAGGGATGAGGAGCAGGACCCACTGAAGAAAGGAGTCATCTTCCGCTTTTGTGGCAGATGCTTCTGCTGCAGAACTGCCACATCTGCTTGGCCTCCAGGCCACCCCTGGAGAGTTTCACAACACTGACATGGAGCCAGAAGCCCTCGAACACAGACCTGGAGCAGCCCGTTCCAAGACAGACTCCAGTACTGCCAATCAAAACCTGCTGCCTAGAGCCAACTAGCAGCACCTGTATCCAGCCCAGCTCCTAACCCGGTGCCCAGAACAAGGCACACACAGTACGTCTGCCAAGTGAGTAAGTGGGATCTAGGGCTCAGTGCCGGTTTGACCACCAACCACGACCCTGAGTAACTCATGCCTTTTTACTCAAGAATCTAGATGTATTCCACTGCACTAAGATGCACCATTCATCCATTCAAAATGCATTTAATAAGCAGCTACAGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCCATCTCTACAAAAAAATGCAAAAATTAGCTGAGCACGATGGTGCTTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTGGTTGCTGTAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAATAAAAAATAAGCAGCTACAGTTACTAAGTAGCTTAGTCAGGCACTAGTGGTTGTTGTGTTATGTAGAAAAATATATCAATTCAGTAATGGCTCACAGAGCTCTCTTAACAGCTTTCCATTTTTACAACTCATCGTAAATGTAAAGAGGGAAGAATGTACACAGAAAGTGCCTTTAAGCTCTCAGAGGATGAGTTCCATCCGCTGAAAAGCACCAGGGGCCTTGCGGATACTATTTTTTTTTTTTTTTTTATAAAAAGGCAGGCCTGGGGCAGGCTTGCACAGCACTCTACACACGGCAAAACAGCCCTGTGCTGCACACTGAGAGGAACACGTAAGCCGCGGTGGTTAGATACGCTTTACTTTCAGAGCCCTGGGCTTTCAGCCTGGGCTGGCCACCCATTAGCTGGATGGGACGTTCGGAAGTAACTCTCGAGCCTTCTCTGTAACAGGGGAACGACCAAGGAGCTACCTCTCGCGTTGTGAGGACAAAGCGCTCGCTACATGCCCGGCACACGACCACAATTCCACTGAAAGCATTTTAATACGGAACTTGTCACTCCCAGGGAGCCTCCGCTCAGCCGGCAGTTGGTTCATTTCAATCCCCACGACAACCCTTCAAAGTGCAGGGCAGACAGCAGGTGGCTCTGCCCAGGCGCCTGGATCACAGCCCGGCCTGCAGCCCTCACCTGGGCGCGGGGAGACCCTGAGGACGCTCCTCCAGGCGGCGCTGGCCGGGGCCTGCGGACACGGACGGGCGGGCTGAGCTCCGGGACCCCTCCCCGCGCCCCGCACCCCGCACCCCGCACCCGGCGCTCACCCGTCCCAGCCCCGCAGCCCCAGCTGCAACGCAGCCACCGCCGCCATCGCACCCGGCCCCGCGGGCGCTTCCGGGACGCAGGAAGCATCTGCATCCGGGGCGCCGCTGAGTCCCGCCCAGAGCCCCGCCCCCGGCTCCAGGTTCTGCGAGCGGCTTCCGCCGGGCTGCTCCGCGGGCGCGTCGGCCATGAGCGAGTTGCCGGGCGACGTGCGGGCGTTTCTGCGGGAGCACCCGAGCCTGCGGCTCCAGACGGACGCCCGCAAGGTTCGCAGCGCGGGAGGGGAACGGAGTGGCGGAGAAGGGCGCAGTTGGGATGAGGGGCTGAGGGGAGGGCAGGGGAGAGGAGAGGGCAGGGGAGAGGGGAGAGGGGAGAGCAGGAGAGAGGGGAGGGCAGGGGAGAGGGCGCGGCGGGATCAGGGGAGGAGAGGGAAGGGGGCGCGGCAGGAGGGGGCACCAGGGAGCGGAGCCCTGGCCCTCCTGACGTCCTGCCCGCCCACGCGTCCGCAGGTGAGGTGCATCCTGACAGGTCACGAGCTGCCCTGCCGCCTGCCGGAGCTCCAGGTCTACACCCGCGGCAAAAAGTACCAGCGGCTGGTCCGCGCCTCCCCGGCCTTCGACTATGCAGAGTTCGAGCCGCACATCGTGCCCAGCACCAAGAACCCGTAGGTGGTCCGCGGCGGCGCGGGGAGGCCCAGGGCAATTAGGACAGCCCCTCCGCTGGACTCCGCCAGTGCTGCAGCCCCTACTCTTTCAGAGTTGGGAGCCCTGGGACCCAGGTGGGCGCCCGGGTGCTGGAATCACCTGCGGTCCCAGCGGCGAGGCCTCTTGGTGAGCTCGTTTGCTCACCTGAGGTTTGTCCTGTGGGGTGTGGCTGCTTCCCAGATGAGTAGAGGCTTGTGATTTGTCACCTGAGGTTGTGAACAGCGTTGGGTTCTTCCCTTAACCCCAGAAGGGGTCTTTGATTTAGCTGGGAGCTAGGCTTTGTAATAATCGTCAAAACAGAGATAGGATGTTTCCATTCATTGAGCCCTTGCTCCAGGTGGAGCCATCCTCTTGCATGAACTCATCCTGGAGCAGTCAGTGAGGCTGCCATGCGTGCTTTTCCGGTAAACATTAAGAGGCTGCAGTCGGCCTGGGTCAGACGGTTCCCCACCCAGCTTCAGAGTGGAATTGCTCCGGGAGCCTTTAAAAGCCCGATGTCCAAGCCGCATGGTAGACTGTCCAGGGATGAGTCCAAGACACAGCCACCAGTCTGAATCCTTGCTGTGAACTGTCCCTACAAATTTGGTCTCTCTGCTCTGTAGGCACCAGTTGTTCTGCAAACTCACCCTGCGGCACATCAACAAGTGCCCAGAACACGTGCTGAGGCACACCCAGGGCCGGCGGTACCAGCGAGCTCTGTGTAAATGTAAGTCCCAGTGGACCCCCATCAGTGCATCGCCATCTGAGTGCATGCCCGCCTTGCCCCAGATGGAGCGTGCTTGAAGGCAGGTCGTCCTTCAGCGATCCGTGTTGATGCATCAGGCCTGTTTTTTGGCACAGTGAAGAGAGGGATGATGGCCCCTGACCCCACAGCTTTTAGTGCAGGCAGGCACAGAGCCAGAAGCAGGCTCGGGAGTGAGTGAGTGTGCGTGGCAATGCGAGGTGTGAAAGAAACTGGGCGAGGGATGTGGGGTGGGCTTGCGGAGACAGGAGGGCTGGGGAGACTCGCTGAGGGATTCGCTCGAGGCTGAGGCTGGAGGGATGTGGTGGCAGTGGGGTCGGGGGAACAGCACCCCAGGGAGAAGCCAGGGTCCATGGAAGTCTGAGGCAAAAATGTGTTGGCTGAGGTAGGCTCCAAAGGACTGGCTGGGCTAGTGTGCACAGCCCGGATGACCCAGAGACCAGGCCAGGAGCACTGCAGTGGGTGTGTGGAGAGGGTTGGGTGGGGGCTGCATGGACAGTGTGCATGGTTGAGAAGGGAGGACTCCTTGACTGCGGTCATCCAGGAAAAGACGGTGGGTTTTGGGGGGAGAATTCAGAGTCCCTTTGAAGGTTTTAAGCTTGAGCTNNNNNNN | pathogenic | 153,477 |
Regarding the variant at chromosome 9 and position 133356426, affecting gene SURF1 (SURF1 cytochrome c oxidase assembly factor): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Leigh_syndrome', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1'] | GGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGAGTTACGCACACCAGATGCCGGTCTTTACCTGCCATGTCCCCAAGCCAAAGGCAGTCACAGGGATGAGGAGCAGGACCCACTGAAGAAAGGAGTCATCTTCCGCTTTTGTGGCAGATGCTTCTGCTGCAGAACTGCCACATCTGCTTGGCCTCCAGGCCACCCCTGGAGAGTTTCACAACACTGACATGGAGCCAGAAGCCCTCGAACACAGACCTGGAGCAGCCCGTTCCAAGACAGACTCCAGTACTGCCAATCAAAACCTGCTGCCTAGAGCCAACTAGCAGCACCTGTATCCAGCCCAGCTCCTAACCCGGTGCCCAGAACAAGGCACACACAGTACGTCTGCCAAGTGAGTAAGTGGGATCTAGGGCTCAGTGCCGGTTTGACCACCAACCACGACCCTGAGTAACTCATGCCTTTTTACTCAAGAATCTAGATGTATTCCACTGCACTAAGATGCACCATTCATCCATTCAAAATGCATTTAATAAGCAGCTACAGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCCATCTCTACAAAAAAATGCAAAAATTAGCTGAGCACGATGGTGCTTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTGGTTGCTGTAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAATAAAAAATAAGCAGCTACAGTTACTAAGTAGCTTAGTCAGGCACTAGTGGTTGTTGTGTTATGTAGAAAAATATATCAATTCAGTAATGGCTCACAGAGCTCTCTTAACAGCTTTCCATTTTTACAACTCATCGTAAATGTAAAGAGGGAAGAATGTACACAGAAAGTGCCTTTAAGCTCTCAGAGGATGAGTTCCATCCGCTGAAAAGCACCAGGGGCCTTGCGGATACTATTTTTTTTTTTTTTTTTATAAAAAGGCAGGCCTGGGGCAGGCTTGCACAGCACTCTACACACGGCAAAACAGCCCTGTGCTGCACACTGAGAGGAACACGTAAGCCGCGGTGGTTAGATACGCTTTACTTTCAGAGCCCTGGGCTTTCAGCCTGGGCTGGCCACCCATTAGCTGGATGGGACGTTCGGAAGTAACTCTCGAGCCTTCTCTGTAACAGGGGAACGACCAAGGAGCTACCTCTCGCGTTGTGAGGACAAAGCGCTCGCTACATGCCCGGCACACGACCACAATTCCACTGAAAGCATTTTAATACGGAACTTGTCACTCCCAGGGAGCCTCCGCTCAGCCGGCAGTTGGTTCATTTCAATCCCCACGACAACCCTTCAAAGTGCAGGGCAGACAGCAGGTGGCTCTGCCCAGGCGCCTGGATCACAGCCCGGCCTGCAGCCCTCACCTGGGCGCGGGGAGACCCTGAGGACGCTCCTCCAGGCGGCGCTGGCCGGGGCCTGCGGACACGGACGGGCGGGCTGAGCTCCGGGACCCCTCCCCGCGCCCCGCACCCCGCACCCCGCACCCGGCGCTCACCCGTCCCAGCCCCGCCGCCCGCAGCCCCAGCTGCAACGCAGCCACCGCCGCCATCGCACCCGGCCCCGCGGGCGCTTCCGGGACGCAGGAAGCATCTGCATCCGGGGCGCCGCTGAGTCCCGCCCAGAGCCCCGCCCCCGGCTCCAGGTTCTGCGAGCGGCTTCCGCCGGGCTGCTCCGCGGGCGCGTCGGCCATGAGCGAGTTGCCGGGCGACGTGCGGGCGTTTCTGCGGGAGCACCCGAGCCTGCGGCTCCAGACGGACGCCCGCAAGGTTCGCAGCGCGGGAGGGGAACGGAGTGGCGGAGAAGGGCGCAGTTGGGATGAGGGGCTGAGGGGAGGGCAGGGGAGAGGAGAGGGCAGGGGAGAGGGGAGAGGGGAGAGCAGGAGAGAGGGGAGGGCAGGGGAGAGGGCGCGGCGGGATCAGGGGAGGAGAGGGAAGGGGGCGCGGCAGGAGGGGGCACCAGGGAGCGGAGCCCTGGCCCTCCTGACGTCCTGCCCGCCCACGCGTCCGCAGGTGAGGTGCATCCTGACAGGTCACGAGCTGCCCTGCCGCCTGCCGGAGCTCCAGGTCTACACCCGCGGCAAAAAGTACCAGCGGCTGGTCCGCGCCTCCCCGGCCTTCGACTATGCAGAGTTCGAGCCGCACATCGTGCCCAGCACCAAGAACCCGTAGGTGGTCCGCGGCGGCGCGGGGAGGCCCAGGGCAATTAGGACAGCCCCTCCGCTGGACTCCGCCAGTGCTGCAGCCCCTACTCTTTCAGAGTTGGGAGCCCTGGGACCCAGGTGGGCGCCCGGGTGCTGGAATCACCTGCGGTCCCAGCGGCGAGGCCTCTTGGTGAGCTCGTTTGCTCACCTGAGGTTTGTCCTGTGGGGTGTGGCTGCTTCCCAGATGAGTAGAGGCTTGTGATTTGTCACCTGAGGTTGTGAACAGCGTTGGGTTCTTCCCTTAACCCCAGAAGGGGTCTTTGATTTAGCTGGGAGCTAGGCTTTGTAATAATCGTCAAAACAGAGATAGGATGTTTCCATTCATTGAGCCCTTGCTCCAGGTGGAGCCATCCTCTTGCATGAACTCATCCTGGAGCAGTCAGTGAGGCTGCCATGCGTGCTTTTCCGGTAAACATTAAGAGGCTGCAGTCGGCCTGGGTCAGACGGTTCCCCACCCAGCTTCAGAGTGGAATTGCTCCGGGAGCCTTTAAAAGCCCGATGTCCAAGCCGCATGGTAGACTGTCCAGGGATGAGTCCAAGACACAGCCACCAGTCTGAATCCTTGCTGTGAACTGTCCCTACAAATTTGGTCTCTCTGCTCTGTAGGCACCAGTTGTTCTGCAAACTCACCCTGCGGCACATCAACAAGTGCCCAGAACACGTGCTGAGGCACACCCAGGGCCGGCGGTACCAGCGAGCTCTGTGTAAATGTAAGTCCCAGTGGACCCCCATCAGTGCATCGCCATCTGAGTGCATGCCCGCCTTGCCCCAGATGGAGCGTGCTTGAAGGCAGGTCGTCCTTCAGCGATCCGTGTTGATGCATCAGGCCTGTTTTTTGGCACAGTGAAGAGAGGGATGATGGCCCCTGACCCCACAGCTTTTAGTGCAGGCAGGCACAGAGCCAGAAGCAGGCTCGGGAGTGAGTGAGTGTGCGTGGCAATGCGAGGTGTGAAAGAAACTGGGCGAGGGATGTGGGGTGGGCTTGCGGAGACAGGAGGGCTGGGGAGACTCGCTGAGGGATTCGCTCGAGGCTGAGGCTGGAGGGATGTGGTGGCAGTGGGGTCGGGGGAACAGCACCCCAGGGAGAAGCCAGGGTCCATGGAAGTCTGAGGCAAAAATGTGTTGGCTGAGGTAGGCTCCAAAGGACTGGCTGGGCTAGTGTGCACAGCCCGGATGACCCAGAGACCAGGCCAGGAGCACTGCAGTGGGTGTGTGGAGAGGGTTGGGTGGGGGCTGCATGGACAGTGTGCATGGTTGAGAAGGGAGGACTCCTTGACTGCGGTCATCCAGGAAAAGACGGTGGGTTTTGGGGGGAGAATTCAGAGTCCCTTTGAAGGTTTTAAGCTTGAGCTGTATTAGGAAAGGTGTG | GGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGAGTTACGCACACCAGATGCCGGTCTTTACCTGCCATGTCCCCAAGCCAAAGGCAGTCACAGGGATGAGGAGCAGGACCCACTGAAGAAAGGAGTCATCTTCCGCTTTTGTGGCAGATGCTTCTGCTGCAGAACTGCCACATCTGCTTGGCCTCCAGGCCACCCCTGGAGAGTTTCACAACACTGACATGGAGCCAGAAGCCCTCGAACACAGACCTGGAGCAGCCCGTTCCAAGACAGACTCCAGTACTGCCAATCAAAACCTGCTGCCTAGAGCCAACTAGCAGCACCTGTATCCAGCCCAGCTCCTAACCCGGTGCCCAGAACAAGGCACACACAGTACGTCTGCCAAGTGAGTAAGTGGGATCTAGGGCTCAGTGCCGGTTTGACCACCAACCACGACCCTGAGTAACTCATGCCTTTTTACTCAAGAATCTAGATGTATTCCACTGCACTAAGATGCACCATTCATCCATTCAAAATGCATTTAATAAGCAGCTACAGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCCATCTCTACAAAAAAATGCAAAAATTAGCTGAGCACGATGGTGCTTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTGGTTGCTGTAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAATAAAAAATAAGCAGCTACAGTTACTAAGTAGCTTAGTCAGGCACTAGTGGTTGTTGTGTTATGTAGAAAAATATATCAATTCAGTAATGGCTCACAGAGCTCTCTTAACAGCTTTCCATTTTTACAACTCATCGTAAATGTAAAGAGGGAAGAATGTACACAGAAAGTGCCTTTAAGCTCTCAGAGGATGAGTTCCATCCGCTGAAAAGCACCAGGGGCCTTGCGGATACTATTTTTTTTTTTTTTTTTATAAAAAGGCAGGCCTGGGGCAGGCTTGCACAGCACTCTACACACGGCAAAACAGCCCTGTGCTGCACACTGAGAGGAACACGTAAGCCGCGGTGGTTAGATACGCTTTACTTTCAGAGCCCTGGGCTTTCAGCCTGGGCTGGCCACCCATTAGCTGGATGGGACGTTCGGAAGTAACTCTCGAGCCTTCTCTGTAACAGGGGAACGACCAAGGAGCTACCTCTCGCGTTGTGAGGACAAAGCGCTCGCTACATGCCCGGCACACGACCACAATTCCACTGAAAGCATTTTAATACGGAACTTGTCACTCCCAGGGAGCCTCCGCTCAGCCGGCAGTTGGTTCATTTCAATCCCCACGACAACCCTTCAAAGTGCAGGGCAGACAGCAGGTGGCTCTGCCCAGGCGCCTGGATCACAGCCCGGCCTGCAGCCCTCACCTGGGCGCGGGGAGACCCTGAGGACGCTCCTCCAGGCGGCGCTGGCCGGGGCCTGCGGACACGGACGGGCGGGCTGAGCTCCGGGACCCCTCCCCGCGCCCCGCACCCCGCACCCCGCACCCGGCGCTCACCCGTCCCAGCCCCGCCGCCCGCAGCCCCAGCTGCAACGCAGCCACAGCTGCAACGCAGCCACCGCCGCCATCGCACCCGGCCCCGCGGGCGCTTCCGGGACGCAGGAAGCATCTGCATCCGGGGCGCCGCTGAGTCCCGCCCAGAGCCCCGCCCCCGGCTCCAGGTTCTGCGAGCGGCTTCCGCCGGGCTGCTCCGCGGGCGCGTCGGCCATGAGCGAGTTGCCGGGCGACGTGCGGGCGTTTCTGCGGGAGCACCCGAGCCTGCGGCTCCAGACGGACGCCCGCAAGGTTCGCAGCGCGGGAGGGGAACGGAGTGGCGGAGAAGGGCGCAGTTGGGATGAGGGGCTGAGGGGAGGGCAGGGGAGAGGAGAGGGCAGGGGAGAGGGGAGAGGGGAGAGCAGGAGAGAGGGGAGGGCAGGGGAGAGGGCGCGGCGGGATCAGGGGAGGAGAGGGAAGGGGGCGCGGCAGGAGGGGGCACCAGGGAGCGGAGCCCTGGCCCTCCTGACGTCCTGCCCGCCCACGCGTCCGCAGGTGAGGTGCATCCTGACAGGTCACGAGCTGCCCTGCCGCCTGCCGGAGCTCCAGGTCTACACCCGCGGCAAAAAGTACCAGCGGCTGGTCCGCGCCTCCCCGGCCTTCGACTATGCAGAGTTCGAGCCGCACATCGTGCCCAGCACCAAGAACCCGTAGGTGGTCCGCGGCGGCGCGGGGAGGCCCAGGGCAATTAGGACAGCCCCTCCGCTGGACTCCGCCAGTGCTGCAGCCCCTACTCTTTCAGAGTTGGGAGCCCTGGGACCCAGGTGGGCGCCCGGGTGCTGGAATCACCTGCGGTCCCAGCGGCGAGGCCTCTTGGTGAGCTCGTTTGCTCACCTGAGGTTTGTCCTGTGGGGTGTGGCTGCTTCCCAGATGAGTAGAGGCTTGTGATTTGTCACCTGAGGTTGTGAACAGCGTTGGGTTCTTCCCTTAACCCCAGAAGGGGTCTTTGATTTAGCTGGGAGCTAGGCTTTGTAATAATCGTCAAAACAGAGATAGGATGTTTCCATTCATTGAGCCCTTGCTCCAGGTGGAGCCATCCTCTTGCATGAACTCATCCTGGAGCAGTCAGTGAGGCTGCCATGCGTGCTTTTCCGGTAAACATTAAGAGGCTGCAGTCGGCCTGGGTCAGACGGTTCCCCACCCAGCTTCAGAGTGGAATTGCTCCGGGAGCCTTTAAAAGCCCGATGTCCAAGCCGCATGGTAGACTGTCCAGGGATGAGTCCAAGACACAGCCACCAGTCTGAATCCTTGCTGTGAACTGTCCCTACAAATTTGGTCTCTCTGCTCTGTAGGCACCAGTTGTTCTGCAAACTCACCCTGCGGCACATCAACAAGTGCCCAGAACACGTGCTGAGGCACACCCAGGGCCGGCGGTACCAGCGAGCTCTGTGTAAATGTAAGTCCCAGTGGACCCCCATCAGTGCATCGCCATCTGAGTGCATGCCCGCCTTGCCCCAGATGGAGCGTGCTTGAAGGCAGGTCGTCCTTCAGCGATCCGTGTTGATGCATCAGGCCTGTTTTTTGGCACAGTGAAGAGAGGGATGATGGCCCCTGACCCCACAGCTTTTAGTGCAGGCAGGCACAGAGCCAGAAGCAGGCTCGGGAGTGAGTGAGTGTGCGTGGCAATGCGAGGTGTGAAAGAAACTGGGCGAGGGATGTGGGGTGGGCTTGCGGAGACAGGAGGGCTGGGGAGACTCGCTGAGGGATTCGCTCGAGGCTGAGGCTGGAGGGATGTGGTGGCAGTGGGGTCGGGGGAACAGCACCCCAGGGAGAAGCCAGGGTCCATGGAAGTCTGAGGCAAAAATGTGTTGGCTGAGGTAGGCTCCAAAGGACTGGCTGGGCTAGTGTGCACAGCCCGGATGACCCAGAGACCAGGCCAGGAGCACTGCAGTGGGTGTGTGGAGAGGGTTGGGTGGGGGCTGCATGGACAGTGTGCATGGTTGAGAAGGGAGGACTCCTTGACTGCGGTCATCCAGGAAAAGACGGTGGGTTTTGGGGGGAGAATTCAGAGTCCCTTTGAAGGTTTTAAGCTTGAGCT | pathogenic | 153,479 |
Evaluate this variant at chromosome 9, position 133356440, gene SURF1 (SURF1 cytochrome c oxidase assembly factor): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Charcot-Marie-Tooth_disease_type_4K', 'Leigh_syndrome', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1'] | TAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGAGTTACGCACACCAGATGCCGGTCTTTACCTGCCATGTCCCCAAGCCAAAGGCAGTCACAGGGATGAGGAGCAGGACCCACTGAAGAAAGGAGTCATCTTCCGCTTTTGTGGCAGATGCTTCTGCTGCAGAACTGCCACATCTGCTTGGCCTCCAGGCCACCCCTGGAGAGTTTCACAACACTGACATGGAGCCAGAAGCCCTCGAACACAGACCTGGAGCAGCCCGTTCCAAGACAGACTCCAGTACTGCCAATCAAAACCTGCTGCCTAGAGCCAACTAGCAGCACCTGTATCCAGCCCAGCTCCTAACCCGGTGCCCAGAACAAGGCACACACAGTACGTCTGCCAAGTGAGTAAGTGGGATCTAGGGCTCAGTGCCGGTTTGACCACCAACCACGACCCTGAGTAACTCATGCCTTTTTACTCAAGAATCTAGATGTATTCCACTGCACTAAGATGCACCATTCATCCATTCAAAATGCATTTAATAAGCAGCTACAGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCCATCTCTACAAAAAAATGCAAAAATTAGCTGAGCACGATGGTGCTTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTGGTTGCTGTAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAATAAAAAATAAGCAGCTACAGTTACTAAGTAGCTTAGTCAGGCACTAGTGGTTGTTGTGTTATGTAGAAAAATATATCAATTCAGTAATGGCTCACAGAGCTCTCTTAACAGCTTTCCATTTTTACAACTCATCGTAAATGTAAAGAGGGAAGAATGTACACAGAAAGTGCCTTTAAGCTCTCAGAGGATGAGTTCCATCCGCTGAAAAGCACCAGGGGCCTTGCGGATACTATTTTTTTTTTTTTTTTTATAAAAAGGCAGGCCTGGGGCAGGCTTGCACAGCACTCTACACACGGCAAAACAGCCCTGTGCTGCACACTGAGAGGAACACGTAAGCCGCGGTGGTTAGATACGCTTTACTTTCAGAGCCCTGGGCTTTCAGCCTGGGCTGGCCACCCATTAGCTGGATGGGACGTTCGGAAGTAACTCTCGAGCCTTCTCTGTAACAGGGGAACGACCAAGGAGCTACCTCTCGCGTTGTGAGGACAAAGCGCTCGCTACATGCCCGGCACACGACCACAATTCCACTGAAAGCATTTTAATACGGAACTTGTCACTCCCAGGGAGCCTCCGCTCAGCCGGCAGTTGGTTCATTTCAATCCCCACGACAACCCTTCAAAGTGCAGGGCAGACAGCAGGTGGCTCTGCCCAGGCGCCTGGATCACAGCCCGGCCTGCAGCCCTCACCTGGGCGCGGGGAGACCCTGAGGACGCTCCTCCAGGCGGCGCTGGCCGGGGCCTGCGGACACGGACGGGCGGGCTGAGCTCCGGGACCCCTCCCCGCGCCCCGCACCCCGCACCCCGCACCCGGCGCTCACCCGTCCCAGCCCCGCCGCCCGCAGCCCCAGCTGCAACGCAGCCACCGCCGCCATCGCACCCGGCCCCGCGGGCGCTTCCGGGACGCAGGAAGCATCTGCATCCGGGGCGCCGCTGAGTCCCGCCCAGAGCCCCGCCCCCGGCTCCAGGTTCTGCGAGCGGCTTCCGCCGGGCTGCTCCGCGGGCGCGTCGGCCATGAGCGAGTTGCCGGGCGACGTGCGGGCGTTTCTGCGGGAGCACCCGAGCCTGCGGCTCCAGACGGACGCCCGCAAGGTTCGCAGCGCGGGAGGGGAACGGAGTGGCGGAGAAGGGCGCAGTTGGGATGAGGGGCTGAGGGGAGGGCAGGGGAGAGGAGAGGGCAGGGGAGAGGGGAGAGGGGAGAGCAGGAGAGAGGGGAGGGCAGGGGAGAGGGCGCGGCGGGATCAGGGGAGGAGAGGGAAGGGGGCGCGGCAGGAGGGGGCACCAGGGAGCGGAGCCCTGGCCCTCCTGACGTCCTGCCCGCCCACGCGTCCGCAGGTGAGGTGCATCCTGACAGGTCACGAGCTGCCCTGCCGCCTGCCGGAGCTCCAGGTCTACACCCGCGGCAAAAAGTACCAGCGGCTGGTCCGCGCCTCCCCGGCCTTCGACTATGCAGAGTTCGAGCCGCACATCGTGCCCAGCACCAAGAACCCGTAGGTGGTCCGCGGCGGCGCGGGGAGGCCCAGGGCAATTAGGACAGCCCCTCCGCTGGACTCCGCCAGTGCTGCAGCCCCTACTCTTTCAGAGTTGGGAGCCCTGGGACCCAGGTGGGCGCCCGGGTGCTGGAATCACCTGCGGTCCCAGCGGCGAGGCCTCTTGGTGAGCTCGTTTGCTCACCTGAGGTTTGTCCTGTGGGGTGTGGCTGCTTCCCAGATGAGTAGAGGCTTGTGATTTGTCACCTGAGGTTGTGAACAGCGTTGGGTTCTTCCCTTAACCCCAGAAGGGGTCTTTGATTTAGCTGGGAGCTAGGCTTTGTAATAATCGTCAAAACAGAGATAGGATGTTTCCATTCATTGAGCCCTTGCTCCAGGTGGAGCCATCCTCTTGCATGAACTCATCCTGGAGCAGTCAGTGAGGCTGCCATGCGTGCTTTTCCGGTAAACATTAAGAGGCTGCAGTCGGCCTGGGTCAGACGGTTCCCCACCCAGCTTCAGAGTGGAATTGCTCCGGGAGCCTTTAAAAGCCCGATGTCCAAGCCGCATGGTAGACTGTCCAGGGATGAGTCCAAGACACAGCCACCAGTCTGAATCCTTGCTGTGAACTGTCCCTACAAATTTGGTCTCTCTGCTCTGTAGGCACCAGTTGTTCTGCAAACTCACCCTGCGGCACATCAACAAGTGCCCAGAACACGTGCTGAGGCACACCCAGGGCCGGCGGTACCAGCGAGCTCTGTGTAAATGTAAGTCCCAGTGGACCCCCATCAGTGCATCGCCATCTGAGTGCATGCCCGCCTTGCCCCAGATGGAGCGTGCTTGAAGGCAGGTCGTCCTTCAGCGATCCGTGTTGATGCATCAGGCCTGTTTTTTGGCACAGTGAAGAGAGGGATGATGGCCCCTGACCCCACAGCTTTTAGTGCAGGCAGGCACAGAGCCAGAAGCAGGCTCGGGAGTGAGTGAGTGTGCGTGGCAATGCGAGGTGTGAAAGAAACTGGGCGAGGGATGTGGGGTGGGCTTGCGGAGACAGGAGGGCTGGGGAGACTCGCTGAGGGATTCGCTCGAGGCTGAGGCTGGAGGGATGTGGTGGCAGTGGGGTCGGGGGAACAGCACCCCAGGGAGAAGCCAGGGTCCATGGAAGTCTGAGGCAAAAATGTGTTGGCTGAGGTAGGCTCCAAAGGACTGGCTGGGCTAGTGTGCACAGCCCGGATGACCCAGAGACCAGGCCAGGAGCACTGCAGTGGGTGTGTGGAGAGGGTTGGGTGGGGGCTGCATGGACAGTGTGCATGGTTGAGAAGGGAGGACTCCTTGACTGCGGTCATCCAGGAAAAGACGGTGGGTTTTGGGGGGAGAATTCAGAGTCCCTTTGAAGGTTTTAAGCTTGAGCTGTATTAGGAAAGGTGTGTATTAGGGAAGTAT | TAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGAGTTACGCACACCAGATGCCGGTCTTTACCTGCCATGTCCCCAAGCCAAAGGCAGTCACAGGGATGAGGAGCAGGACCCACTGAAGAAAGGAGTCATCTTCCGCTTTTGTGGCAGATGCTTCTGCTGCAGAACTGCCACATCTGCTTGGCCTCCAGGCCACCCCTGGAGAGTTTCACAACACTGACATGGAGCCAGAAGCCCTCGAACACAGACCTGGAGCAGCCCGTTCCAAGACAGACTCCAGTACTGCCAATCAAAACCTGCTGCCTAGAGCCAACTAGCAGCACCTGTATCCAGCCCAGCTCCTAACCCGGTGCCCAGAACAAGGCACACACAGTACGTCTGCCAAGTGAGTAAGTGGGATCTAGGGCTCAGTGCCGGTTTGACCACCAACCACGACCCTGAGTAACTCATGCCTTTTTACTCAAGAATCTAGATGTATTCCACTGCACTAAGATGCACCATTCATCCATTCAAAATGCATTTAATAAGCAGCTACAGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCCATCTCTACAAAAAAATGCAAAAATTAGCTGAGCACGATGGTGCTTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTGGTTGCTGTAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAATAAAAAATAAGCAGCTACAGTTACTAAGTAGCTTAGTCAGGCACTAGTGGTTGTTGTGTTATGTAGAAAAATATATCAATTCAGTAATGGCTCACAGAGCTCTCTTAACAGCTTTCCATTTTTACAACTCATCGTAAATGTAAAGAGGGAAGAATGTACACAGAAAGTGCCTTTAAGCTCTCAGAGGATGAGTTCCATCCGCTGAAAAGCACCAGGGGCCTTGCGGATACTATTTTTTTTTTTTTTTTTATAAAAAGGCAGGCCTGGGGCAGGCTTGCACAGCACTCTACACACGGCAAAACAGCCCTGTGCTGCACACTGAGAGGAACACGTAAGCCGCGGTGGTTAGATACGCTTTACTTTCAGAGCCCTGGGCTTTCAGCCTGGGCTGGCCACCCATTAGCTGGATGGGACGTTCGGAAGTAACTCTCGAGCCTTCTCTGTAACAGGGGAACGACCAAGGAGCTACCTCTCGCGTTGTGAGGACAAAGCGCTCGCTACATGCCCGGCACACGACCACAATTCCACTGAAAGCATTTTAATACGGAACTTGTCACTCCCAGGGAGCCTCCGCTCAGCCGGCAGTTGGTTCATTTCAATCCCCACGACAACCCTTCAAAGTGCAGGGCAGACAGCAGGTGGCTCTGCCCAGGCGCCTGGATCACAGCCCGGCCTGCAGCCCTCACCTGGGCGCGGGGAGACCCTGAGGACGCTCCTCCAGGCGGCGCTGGCCGGGGCCTGCGGACACGGACGGGCGGGCTGAGCTCCGGGACCCCTCCCCGCGCCCCGCACCCCGCACCCCGCACCCGGCGCTCACCCGTCCCAGCCCCGCCGCCCGCAGCCCCAGCTGCAACGCAGCCGCGGGCGCTTCCGGGACGCAGGAAGCATCTGCATCCGGGGCGCCGCTGAGTCCCGCCCAGAGCCCCGCCCCCGGCTCCAGGTTCTGCGAGCGGCTTCCGCCGGGCTGCTCCGCGGGCGCGTCGGCCATGAGCGAGTTGCCGGGCGACGTGCGGGCGTTTCTGCGGGAGCACCCGAGCCTGCGGCTCCAGACGGACGCCCGCAAGGTTCGCAGCGCGGGAGGGGAACGGAGTGGCGGAGAAGGGCGCAGTTGGGATGAGGGGCTGAGGGGAGGGCAGGGGAGAGGAGAGGGCAGGGGAGAGGGGAGAGGGGAGAGCAGGAGAGAGGGGAGGGCAGGGGAGAGGGCGCGGCGGGATCAGGGGAGGAGAGGGAAGGGGGCGCGGCAGGAGGGGGCACCAGGGAGCGGAGCCCTGGCCCTCCTGACGTCCTGCCCGCCCACGCGTCCGCAGGTGAGGTGCATCCTGACAGGTCACGAGCTGCCCTGCCGCCTGCCGGAGCTCCAGGTCTACACCCGCGGCAAAAAGTACCAGCGGCTGGTCCGCGCCTCCCCGGCCTTCGACTATGCAGAGTTCGAGCCGCACATCGTGCCCAGCACCAAGAACCCGTAGGTGGTCCGCGGCGGCGCGGGGAGGCCCAGGGCAATTAGGACAGCCCCTCCGCTGGACTCCGCCAGTGCTGCAGCCCCTACTCTTTCAGAGTTGGGAGCCCTGGGACCCAGGTGGGCGCCCGGGTGCTGGAATCACCTGCGGTCCCAGCGGCGAGGCCTCTTGGTGAGCTCGTTTGCTCACCTGAGGTTTGTCCTGTGGGGTGTGGCTGCTTCCCAGATGAGTAGAGGCTTGTGATTTGTCACCTGAGGTTGTGAACAGCGTTGGGTTCTTCCCTTAACCCCAGAAGGGGTCTTTGATTTAGCTGGGAGCTAGGCTTTGTAATAATCGTCAAAACAGAGATAGGATGTTTCCATTCATTGAGCCCTTGCTCCAGGTGGAGCCATCCTCTTGCATGAACTCATCCTGGAGCAGTCAGTGAGGCTGCCATGCGTGCTTTTCCGGTAAACATTAAGAGGCTGCAGTCGGCCTGGGTCAGACGGTTCCCCACCCAGCTTCAGAGTGGAATTGCTCCGGGAGCCTTTAAAAGCCCGATGTCCAAGCCGCATGGTAGACTGTCCAGGGATGAGTCCAAGACACAGCCACCAGTCTGAATCCTTGCTGTGAACTGTCCCTACAAATTTGGTCTCTCTGCTCTGTAGGCACCAGTTGTTCTGCAAACTCACCCTGCGGCACATCAACAAGTGCCCAGAACACGTGCTGAGGCACACCCAGGGCCGGCGGTACCAGCGAGCTCTGTGTAAATGTAAGTCCCAGTGGACCCCCATCAGTGCATCGCCATCTGAGTGCATGCCCGCCTTGCCCCAGATGGAGCGTGCTTGAAGGCAGGTCGTCCTTCAGCGATCCGTGTTGATGCATCAGGCCTGTTTTTTGGCACAGTGAAGAGAGGGATGATGGCCCCTGACCCCACAGCTTTTAGTGCAGGCAGGCACAGAGCCAGAAGCAGGCTCGGGAGTGAGTGAGTGTGCGTGGCAATGCGAGGTGTGAAAGAAACTGGGCGAGGGATGTGGGGTGGGCTTGCGGAGACAGGAGGGCTGGGGAGACTCGCTGAGGGATTCGCTCGAGGCTGAGGCTGGAGGGATGTGGTGGCAGTGGGGTCGGGGGAACAGCACCCCAGGGAGAAGCCAGGGTCCATGGAAGTCTGAGGCAAAAATGTGTTGGCTGAGGTAGGCTCCAAAGGACTGGCTGGGCTAGTGTGCACAGCCCGGATGACCCAGAGACCAGGCCAGGAGCACTGCAGTGGGTGTGTGGAGAGGGTTGGGTGGGGGCTGCATGGACAGTGTGCATGGTTGAGAAGGGAGGACTCCTTGACTGCGGTCATCCAGGAAAAGACGGTGGGTTTTGGGGGGAGAATTCAGAGTCCCTTTGAAGGTTTTAAGCTTGAGCTGTATTAGGAAAGGTGTGTATTAGGGAAGTATNNNNNNNNNNNNNNNNNNNNNNNN | pathogenic | 153,481 |
Mutation found at chromosome 9 position 133422462, gene ADAMTS13 (ADAM metallopeptidase with thrombospondin type 1 motif 13): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic | ATGCAGCCTTCTGTACAAAGGTGCATTCCAGGGAACAAAGAGAACAAAGAAAGAGGTCGTCTTTTGTAGAGAACTTCCTGCCCAGGTTCCCACTTTGGTCCACTTATGCAAATGAGGAAGGCACACTTGCTTAGTTCTGATTGGTTAATACTTGCTGAGTTCAGATTGGTCGATGCAGGTCACAGTCGATGGGTTGATTCTGGCGGCATAAACAGGAACAGATAGCTGTGAAACCATCCCAGAGTTAAGTGAGAGTGGGGGCTTTCCAGGAACGCAGAATGTGTGTGTGACCCTAGTCAGCAAATGGCTGCTAGGTCCTACTTTGAATTTAGGCCCAGTTAGTAACTTGGGATCCATCAAGAAGGATTGGCTCTTTCAGGGTTCACAAAGTTATTGGTGACCTTTTAAAGATCAATTTCAATGGTATGTGGGAATTGAAGGCAAGGAAGTGGAGATAGCCACTGAAAATAATGTTTCTAAGTTCTTAAAGACAGCCAGAAACAGGGCTATGGCAGGAGGACAGTGTGGGTCAAGGGAAGGTTGTTGATTGTAATCAAGAGACACCAGAGTGTCTGGGCTTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGTCAGCTCACCTGAGGTCAGGAGTTTGAGACCAGCTTGGCCAACATGGCGAAACCCCACCTCTACTAAAAATACAAAAACTAGCCAGGCGTGATGGCGGGTGCCTGTAATCCCAGCCACAAGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGTGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGTGACACAGCAAGACTCTGTCTCAAAAAACAAACAAAAACCAAAAAGAGACAGGAGAGTCATTCATGCTGATGGAGTGAGCCAGGTACCAGGATCTCGATATCTAAGCATGCCCCCTTCTCCAACAGCCTCCTTACCTTCCTGCATGAAAGCACACCCTTCCCTCCAGTCCCCCATTCCTTTATTCTGCTGTATTTTTCTCCATAACACTTACCACCTTTGAACATACTACATATACAACATGTGTCTGTCTAGCAACTTTGCTGTCTGGCTCTCTTCCCTAGAATTTAAGCTGTGAGAGGCCGAGGCTGCTGTCTGCCTGGCTTGGGGCTGCTTTCCTGGTGTCTAGCACAGAGCCTGGCCTGTTTCAGGGGCTCAGTGAAACATTTGTTGGCTGAAGGAATGAATGAATGGCTCTAGCAGAGGGGCAGAAACTAACGATGCAGGAGGAGAGAGCTGGGAAGGGATCCAGAGCCAGGGCCTGGCAGGAAGTGTAGGTGTGTCCTCCCTGATCGCAGAGGAGGAGAGAGGCTGCACTTTGAGGGGTGGAAAGACAAGGTGAATCCCCCTGCTGGTCATCAGCTTGTGCGGCTCTGTGGGTGTAAAAGAGTGGTTTGGAGCATGTGAAGTGAGTCTTCCAGGAGATGAAGGGGATTGCCAGGCCGTTTGTGATGATGCTGAGATCTGGTGCCGTGCAGCCTGCTTCTGCGACTCTCCTCATCAGGCGCAGGCACAGAGTAGGTGGAGAGTTGAGCCAGAACCACGATGTCTTTGGCACAGCCTCTCATCTGTCAGATGGGAGCGGGGACCCCGGAGAGGGAGTCAGCCGAGGTCCTGGCATTCCTTGTGAACCCCCGTCTGTGGGTTTCTGGTCCAGTGTCCCTTCTCCAGATTAGATGGCTTAGGCCTCCTCTAAGGGGGTGGGCGTGCACATCCGGAGAGCTGTCTGGTGTGCAGGACTGGGCTGCAGGTTACCCTGAACTGCAACCATCTTAGAGCAAGGCCCAGCTTGCAGCAGGAGGAGCTGCAGGCCGCCCACCCTAGCCACGGCCCCTGCCCTGGCAGGAAGCTTCCAAGAGTAAACACTGCCTAATCGTCCCGCCCAGTAGTGAGCAGGCCTGTCCCATTCCATACTGACCAGATTCCCAGTCACCAAGGCCCCCTCTCACTCCGCTCCACTCCTCGGGCTGGCTCTCCTGAGGATGCACCAGCGTCACCCCCGGGCAAGATGCCCTCCCCTCTGTGTGGCCGGAATCCTTGCCTGTGGCTTTCTCCTGGGCTGCTGGGGACCCTCCCATTTCCAGCAGGTGGGCTCATTTGCAGGAGCGGGGGTATTCTGGGAGCCTCTGGGTGGGGTATTCTGAGCTACCTGGGGCGAGGGGAGTGCCAAATAGCTGACTACATCAGCTTTGGGGTTTGCGCTGGGCAGGGGAGTCTGTACTTGGGGCTTTGGGGGATGAAGTGTGCTCACTGAAGAGGGAGTTGGTGTCTCAGTACGACCTGCTCATTCGGTGAAGCTGAACAGACAGATACTAGTTTGTCCCAAACTGTGTAGGTTGCTCTTCTCTGCCTCTCCCTTCCTCTCCCTGTCTCTGATTTCCCCCTCTCCTTCTTGGTTGGCCTCACCCACCTCCTGCCTCCTGTCTCCCTCTTCATCCATCTCTTTTTGTTCTTTTTTCTTTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTTTTAAGACATGGGGTCTTGTTATGTTGCCCCAGCTGGTCTCAAACTCCTGGACTCAAGTGATCCTCCCACCTCGGTCTCCCCAAGTGTTAGGATTACAGGCCAGAGCCACTATGCCCGGCCCCATCCATCTCTTTTTGTCTTGCAGAGTTGTCTTCAGGCTTTGGAGCCACAGGCCGTGTCTTCTTACTTGAGCCCTGGTGCTCCCTTAAAAGGTACTTGTCCTGGTGTCTTCTCTCCCGGGGGGAGTTTCTCAGGACTTTCAAGGGGTATCTCACCACTGAGTCAGTGGTCTGGGATTTTTGGTGGATCTGGAAGGAGAAGGTCAGAGAAGCTGCTGTCAACCCTGTTAATTAACTCTGTTACTTCCTGCCAAGTTGATATAAGCTGGTCTGGGTGTTCCAGCCAGGCCAGGGTTCTCACCCTAGCTTCTGTTAAATATCACAAGGGAACGGTCACCGATTGGCTGGCCCCTCCTGCCCCATGGCCTCTGCTGAGCTGGCTGATTTTCAGGAGCTCTTGTGGTTTCTGACCGTGGATGTAAATATTTATTCCTTCTGTGGGAAACAAGATAGGTACTGGCTCAGGCTACCTCCTAAGGCCATGGATTTCCTTATGATAAAGGCCTGTCCCCATTGCCCACAGGCCCATGTCTGTGACCTTCTCCGGTGCGAGCCCCCTTCCCAGTAGGGCCATTGGCAACTTGACTAATGGCTGATGGGGGCCAGAGGCAGGTGGGCTAGTGGTCAGGGGCAACAGGAGGGCAAGGCCCACTTTGTGACCTGGTTCTTTGTGGTCTAGGCCAGAGGCACACTGACCAGTGCCTGGGGCCACGCTGGGGGCTGGATGCAGCCGACGCTGTCTGGGTATCCCATAGCCTGGGTCCTTCCAGCGCTGCCGCTCCTGAAAGGCTGGGAGATCATTGCCCAGGGTCCCTGACCCTCTAAGGGCTCCCTTGGGAGAGGACAGTGAGGGCTGGCCTGGGCCCCTGCTTCCCAAGAGACCACTGGGCTCCACTCGTGTTCAGTTTCCTGTCGGGGTCCATGATGTTACTTGTGAAACACCTGTGCCCAGAGCAGGGTCCAGGAGGCAGGGCAGGGGCTTTCCCCTTTGGGCAGAGCCACCAGGGCAGTGGGAATCTTGTCTTGATGGGGTGACCCAAAGCACACAATAGCCCAACAGCTCCTCCTGGGCCCTGCCCTTTGCGTGCCTAGTCACTAATGGGGTCTGGCTCTTGGGGTGGGGGTGACACGCAATGTCTTGACTTCGGAAGGCCATCCTTCCAAGACCTGCCAGCCCCTTTCCTGTTAGCTTTCCACTGCTTGCTCTCTAGAACCATCGCCCTCTGCTCTCCCTCTCCCCCTCCAGGCCGCCCTCCTTCCCCTGGCTTCCAGAGGCAGAGGCAGAGGCAGAGGCGGGCTGCAGGCGGCATCCTACACCTGGAGCTGCTGGTGGCCGTGGGCCCCGATGTCTTCCAGGCTCACCAGGAGGACACAGAGCGCTATGTGCTCACCAACCTCAACATCGTGAGTGCCCCACGCTGGACTGTGCAGGTCC | ATGCAGCCTTCTGTACAAAGGTGCATTCCAGGGAACAAAGAGAACAAAGAAAGAGGTCGTCTTTTGTAGAGAACTTCCTGCCCAGGTTCCCACTTTGGTCCACTTATGCAAATGAGGAAGGCACACTTGCTTAGTTCTGATTGGTTAATACTTGCTGAGTTCAGATTGGTCGATGCAGGTCACAGTCGATGGGTTGATTCTGGCGGCATAAACAGGAACAGATAGCTGTGAAACCATCCCAGAGTTAAGTGAGAGTGGGGGCTTTCCAGGAACGCAGAATGTGTGTGTGACCCTAGTCAGCAAATGGCTGCTAGGTCCTACTTTGAATTTAGGCCCAGTTAGTAACTTGGGATCCATCAAGAAGGATTGGCTCTTTCAGGGTTCACAAAGTTATTGGTGACCTTTTAAAGATCAATTTCAATGGTATGTGGGAATTGAAGGCAAGGAAGTGGAGATAGCCACTGAAAATAATGTTTCTAAGTTCTTAAAGACAGCCAGAAACAGGGCTATGGCAGGAGGACAGTGTGGGTCAAGGGAAGGTTGTTGATTGTAATCAAGAGACACCAGAGTGTCTGGGCTTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGTCAGCTCACCTGAGGTCAGGAGTTTGAGACCAGCTTGGCCAACATGGCGAAACCCCACCTCTACTAAAAATACAAAAACTAGCCAGGCGTGATGGCGGGTGCCTGTAATCCCAGCCACAAGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGTGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGTGACACAGCAAGACTCTGTCTCAAAAAACAAACAAAAACCAAAAAGAGACAGGAGAGTCATTCATGCTGATGGAGTGAGCCAGGTACCAGGATCTCGATATCTAAGCATGCCCCCTTCTCCAACAGCCTCCTTACCTTCCTGCATGAAAGCACACCCTTCCCTCCAGTCCCCCATTCCTTTATTCTGCTGTATTTTTCTCCATAACACTTACCACCTTTGAACATACTACATATACAACATGTGTCTGTCTAGCAACTTTGCTGTCTGGCTCTCTTCCCTAGAATTTAAGCTGTGAGAGGCCGAGGCTGCTGTCTGCCTGGCTTGGGGCTGCTTTCCTGGTGTCTAGCACAGAGCCTGGCCTGTTTCAGGGGCTCAGTGAAACATTTGTTGGCTGAAGGAATGAATGAATGGCTCTAGCAGAGGGGCAGAAACTAACGATGCAGGAGGAGAGAGCTGGGAAGGGATCCAGAGCCAGGGCCTGGCAGGAAGTGTAGGTGTGTCCTCCCTGATCGCAGAGGAGGAGAGAGGCTGCACTTTGAGGGGTGGAAAGACAAGGTGAATCCCCCTGCTGGTCATCAGCTTGTGCGGCTCTGTGGGTGTAAAAGAGTGGTTTGGAGCATGTGAAGTGAGTCTTCCAGGAGATGAAGGGGATTGCCAGGCCGTTTGTGATGATGCTGAGATCTGGTGCCGTGCAGCCTGCTTCTGCGACTCTCCTCATCAGGCGCAGGCACAGAGTAGGTGGAGAGTTGAGCCAGAACCACGATGTCTTTGGCACAGCCTCTCATCTGTCAGATGGGAGCGGGGACCCCGGAGAGGGAGTCAGCCGAGGTCCTGGCATTCCTTGTGAACCCCCGTCTGTGGGTTTCTGGTCCAGTGTCCCTTCTCCAGATTAGATGGCTTAGGCCTCCTCTAAGGGGGTGGGCGTGCACATCCGGAGAGCTGTCTGGTGTGCAGGACTGGGCTGCAGGTTACCCTGAACTGCAACCATCTTAGAGCAAGGCCCAGCTTGCAGCAGGAGGAGCTGCAGGCCGCCCACCCTAGCCACGGCCCCTGCCCTGGCAGGAAGCTTCCAAGAGTAAACACTGCCTAATCGTCCCGCCCAGTAGTGAGCAGGCCTGTCCCATTCCATACTGACCAGATTCCCAGTCACCAAGGCCCCCTCTCACTCCGCTCCACTCCTCGGGCTGGCTCTCCTGAGGATGCACCAGCGTCACCCCCGGGGCAAGATGCCCTCCCCTCTGTGTGGCCGGAATCCTTGCCTGTGGCTTTCTCCTGGGCTGCTGGGGACCCTCCCATTTCCAGCAGGTGGGCTCATTTGCAGGAGCGGGGGTATTCTGGGAGCCTCTGGGTGGGGTATTCTGAGCTACCTGGGGCGAGGGGAGTGCCAAATAGCTGACTACATCAGCTTTGGGGTTTGCGCTGGGCAGGGGAGTCTGTACTTGGGGCTTTGGGGGATGAAGTGTGCTCACTGAAGAGGGAGTTGGTGTCTCAGTACGACCTGCTCATTCGGTGAAGCTGAACAGACAGATACTAGTTTGTCCCAAACTGTGTAGGTTGCTCTTCTCTGCCTCTCCCTTCCTCTCCCTGTCTCTGATTTCCCCCTCTCCTTCTTGGTTGGCCTCACCCACCTCCTGCCTCCTGTCTCCCTCTTCATCCATCTCTTTTTGTTCTTTTTTCTTTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTTTTAAGACATGGGGTCTTGTTATGTTGCCCCAGCTGGTCTCAAACTCCTGGACTCAAGTGATCCTCCCACCTCGGTCTCCCCAAGTGTTAGGATTACAGGCCAGAGCCACTATGCCCGGCCCCATCCATCTCTTTTTGTCTTGCAGAGTTGTCTTCAGGCTTTGGAGCCACAGGCCGTGTCTTCTTACTTGAGCCCTGGTGCTCCCTTAAAAGGTACTTGTCCTGGTGTCTTCTCTCCCGGGGGGAGTTTCTCAGGACTTTCAAGGGGTATCTCACCACTGAGTCAGTGGTCTGGGATTTTTGGTGGATCTGGAAGGAGAAGGTCAGAGAAGCTGCTGTCAACCCTGTTAATTAACTCTGTTACTTCCTGCCAAGTTGATATAAGCTGGTCTGGGTGTTCCAGCCAGGCCAGGGTTCTCACCCTAGCTTCTGTTAAATATCACAAGGGAACGGTCACCGATTGGCTGGCCCCTCCTGCCCCATGGCCTCTGCTGAGCTGGCTGATTTTCAGGAGCTCTTGTGGTTTCTGACCGTGGATGTAAATATTTATTCCTTCTGTGGGAAACAAGATAGGTACTGGCTCAGGCTACCTCCTAAGGCCATGGATTTCCTTATGATAAAGGCCTGTCCCCATTGCCCACAGGCCCATGTCTGTGACCTTCTCCGGTGCGAGCCCCCTTCCCAGTAGGGCCATTGGCAACTTGACTAATGGCTGATGGGGGCCAGAGGCAGGTGGGCTAGTGGTCAGGGGCAACAGGAGGGCAAGGCCCACTTTGTGACCTGGTTCTTTGTGGTCTAGGCCAGAGGCACACTGACCAGTGCCTGGGGCCACGCTGGGGGCTGGATGCAGCCGACGCTGTCTGGGTATCCCATAGCCTGGGTCCTTCCAGCGCTGCCGCTCCTGAAAGGCTGGGAGATCATTGCCCAGGGTCCCTGACCCTCTAAGGGCTCCCTTGGGAGAGGACAGTGAGGGCTGGCCTGGGCCCCTGCTTCCCAAGAGACCACTGGGCTCCACTCGTGTTCAGTTTCCTGTCGGGGTCCATGATGTTACTTGTGAAACACCTGTGCCCAGAGCAGGGTCCAGGAGGCAGGGCAGGGGCTTTCCCCTTTGGGCAGAGCCACCAGGGCAGTGGGAATCTTGTCTTGATGGGGTGACCCAAAGCACACAATAGCCCAACAGCTCCTCCTGGGCCCTGCCCTTTGCGTGCCTAGTCACTAATGGGGTCTGGCTCTTGGGGTGGGGGTGACACGCAATGTCTTGACTTCGGAAGGCCATCCTTCCAAGACCTGCCAGCCCCTTTCCTGTTAGCTTTCCACTGCTTGCTCTCTAGAACCATCGCCCTCTGCTCTCCCTCTCCCCCTCCAGGCCGCCCTCCTTCCCCTGGCTTCCAGAGGCAGAGGCAGAGGCAGAGGCGGGCTGCAGGCGGCATCCTACACCTGGAGCTGCTGGTGGCCGTGGGCCCCGATGTCTTCCAGGCTCACCAGGAGGACACAGAGCGCTATGTGCTCACCAACCTCAACATCGTGAGTGCCCCACGCTGGACTGTGCAGGTC | pathogenic | 153,488 |
Classify the chromosome 9 variant at position 133428727 affecting gene ADAMTS13 (ADAM metallopeptidase with thrombospondin type 1 motif 13) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Upshaw-Schulman_syndrome'] | TTTCTTTACATACACACACATATTTCTTATTTGCAAAATTGGGATTTAGTTTGGATCCCTGAAAAAAAGGAAAATTGTGATTATGCTGTGCATTGCTTTGTTACCTGCTATTTCTTTTTCTTTTCTTTTCTTTTTTTTTTTTGAGATGAAGTTTCGCTCTTGTTGCCCAGGCTGGAGGGCAATGACGTGATCTCAGCTCATTGCAACCTCCACCTCCTGGGTGCAAGTGATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCTGCCTCGGTCTCCCACAGTGCTGGGATTACAGGCGTGAGCCACTGCATCCAGCCTTTCTTTTTTCTTCCTAGGGTAAGTGCAGGATTTACCTGTTCTTTATGTAATAATATATCCCAAACATTATCCCAGGTATCTTAGAGGTGTGCACCGTAATTTATTTAATCAGTCCCCTCTTCTTGGATGTCTAGGTTGTCTGAACACGTCTTCCTGTTGTGAATGTTATGCATTCTTGTGGGCAAACCTTCACTCTTACCTATAACCATTTACCTAGAGTGATGGGTTTCTTTTCATTTCTTTAGTTTTTTAAGTATGAAAATAATACCCAATTGTTGTAAAAATTCAAACAGTGCAGAGATTTCTAAAGTAAAAAGTGAATTTCCACATTCCTTGCCCACCAACCCCCACCCGACCCCTTTCAACCCCTCTGAGCCTGGGAGGGTTGAGGCAGGGTTCCTGGGTGTGGGACAAGGCAGGGCTCCTTCTCCCTCAGAGGGAGCATAGTTCCCTTCTGCTCCTGTGATGCAGAAGACGTGAGCCCCCAAACTGGGGCTTAGCCTGGGAGGGTTCTTGGCTTCACCGAGGAAAGAATTCAAGAGGGAGCAGGTGGTGTTAGACAGCAACTTTGATTGATGTGGCAGTGGGCAGAGTGTACAGCCCTGTGACTGTATACAGCACAGCATAGCCCCTTTTGAAGCCAGGCTACCCCATAGACACTGTGCCCAAAAGAGCAGCTCAAAGGCAGGGCTGCAGTCCTAGTTAATACCCACTTCTAATTATATGCAAATTAAGGGGCCAGATTATGCAGAAATTTCTAGAAAAAGGGCAGTAACTTCTAGGTTTTCGTCATGGAAAAGGGGCAGTAACTTCTGGGTTTTGCCATGGCAATGGCAAACTGGTATGGCACACTGGTGGGCGTGTCTTATGGAAAGGGGCTTCCCACCCCTCCCTGTTTTAGCTAGTCCTCTGGTCCAGTGTCCAAGCGGGGCCTCCAGAGTGGAGTCCACCTCCTACCTCACCGGTGCCTGGCCTCTCCCACCCCATTAGGAGTCCTCCATCAGTTCCGCTTTGGGTAAAGCAAGCTCTGTTGTGACAGTTTGGAAACGGTTCACCTTCCTGGCCTAGGAATGCAAACAATGGCCAAGGGCAAGCACGTTTTAACTGAACTTTAAAATCGTGCTTTCCTCACAGTAGGTGAATTTCACGCTCAACACATCCATGTAAACAGTCCCCAGAGCAGCCCTTCAAGGCCCCGGCCAGTCCCCACCTCCCCACAGACTCCTAACACCATGATTTAATGTGGCTTGCACATTTTTAAAGGCTTTTGATATTTATTAGCAAAAGATGCGAGAGCCACCCTGCTGGGCTAGCGCTCCCTTCTGGGGGAAACTGAGGCAGGGCGCACGCGACCCTCTCCACTGCGCCCAGTTAGCAGATGGCGGCGTCAGGGGTCGACCCGGGTCGGAAAACTCGCTGGCGCTGCGGCACTAGGGCGCCGGGCCGCTGACTCGCCGACCCCCGTCCCGCCCCCACCCCCGCCCCCGCCCCTGCCGGCCGCCTTAGCGCAACTCCCCGCCCCCCGACCAGCTTCGGCCTGGAGCACGACGGCGCGCCCGGCAGCGGCTGCGGCCCCAGCGGACACGTGATGGCTTCGGACGGCGCCGCGCCCCGCGCCGGCCTCGCCTGGTCCCCCTGCAGCCGCCGGCAGCTGCTGAGCCTGCTCAGGTAGCGGCCGCCCCGTGGGAGGGGCGCGCGAGCCTCCAGCCAGCCCGCTGGGCCGCCAGCGCCACCTCTCTCTACGTCCGTCCCCACTCCGCATTCAGCCCTCCTTCCTGTCCCACCCCTCCGTCCAACCCACCCCTCCGTCCAACCCCGCGCCCACCGCTCCGTCCGTGGAGGGGCGGGCGCGCGAGCCTCCAGCCAGCCCGCTGGGCCGCCCGCGCCACCCCTCCCTACGTCCGTCCCCACCTCTCCCTACGTCCGTCCCCACTCCGCATTCAGCCCTCCTTCCTGTCCTACCTCTCCATCCTGACCCACTCCTCCGTCCAACCCCGCGCCCACAGCTCCGTCCCATCCCGCTGCGCCCACTCCTGCGCCCACCCCTCCGTCCCAACCCCTGCACCCACCCCCCCGTCCCACCCACCTGCCCCACCCCCTGCACCTCCCCCCGTGCTGTCCCACTCTGCGGCCACCCTTCTGTCCAACCCCTGCGCCCACCGCTCCGTTCCACCCCCTCCCTGCGCCCACCCCTGCGTCCTCCCTCGCCCCCTTGCGCCCACACTTTCGTTCCAGCCAATCTGGGCACGCACCCCTCCGTCCATCCCCATCCCGCCCCTTGACTCCACATACACTCCCTGGTTCTCTCCCACTTGCCTACACCCACCCCTGCATCCTACCCTCCTCCATCCACCCCTCCATCTCAGCCCCCTGCACCCACCCCGTTCCTGGGCCCACCCTGTTCCTGCACCCACCCCCTCACTTCACCCCCTTACCCTTCGTCTGCCTCCACCCGCCCCTACCCCTCCGTCCACTCTCCACGCTCCATCAGTCCCACACCCCTATCTCCCCCACCCGCGTACATGTATCCCTGCGTCCCCTTCCCGCCGACCGCACCGCTCCCGGGCCTAACCTGCATCTGCTCCATCCCACTCAGACCCGTCCCTCCGTCGCCGCTCCCTCTGCTGGCCACCCACCTCTGCGCCGGCAGGAGCCTTAGTCTTGGTCCCAGCCAAGAGCCGGCTCCTGGTGGGGGGCGCGGGCCGAGAACTCCTGTTCCCACTCACAAAAGGCCACGCTTCCAAACGCTTCCATCCTCGTGCCCACTCCTCCGTCCCGCCTCCTCCCGGTGTACACCCCGGGACTGAGCCGGGCCTGAGCCGGGCCTTGTCGCAGCGCAGGACGGGCGCGCTGCGTGTGGGACCCGCCGCGGCCTCAACCCGGGTCCGCGGGGCACCCGCCGGATGCGCAGCCTGGCCTCTACTACAGCGCCAACGAGCAGTGCCGCGTGGCCTTCGGCCCCAAGGCTGTCGCCTGCACCTTCGCCAGGGAGCACCTGGTGAGTCTGCCGGCGGTGGCCTGGGATTGGCTGTGAGGTCCCTCCGCATCACCCAGCTCACGTCCCCCAAAACGTGCATGGTGAGAACCTGCTGGGTGCCGTGCTAGGCTGAGGTACTAAGCCAGGGCGGCTTAGTTTAATGCTGTCTGTGCCCTCTAGAAATTATTTAAAATGTTTGAACAAAAGCTCCAACATTTTTGTTTGACTGGGCCCCACAAATTATGTAGCTAGTCCTGGGAGGGCCCCTGTGCCCAAGGACTCCTGGCTGAGTGAGGACACCAATCTTAAACAGTTACCAAGGACTTCCCCATCTATTGTGGCTGGAGTCAGACTGGAGGGCTTCCTGGAGGAAGTGGCCTCTAAACTGAACCCACAGCAGAAGTGGGGCTGGTAGGGGGAGGGGAGATGAAGGAGAGCAGGCACCCCAAAAGACAGACTTCCTCGCAGGATTGCATAGGACATTCATGGGCTCCAGGCACTTTTGCCTTGATGGGCCCCTTCCTCCACAAAAAAATTGAGAATTATGTTTTAATATTCTTATACAATGTATAAAGTTTTATGTGTTACTATAAATACAAGTCTTTTTTTTTCCTATTTTTTTTTTTTTTTGAGACAGAGTCTCCCTCTCTGCTCACTGCAGGCTCCGCCTGCCAGATTCACACCATTCTCCTGC | TTTCTTTACATACACACACATATTTCTTATTTGCAAAATTGGGATTTAGTTTGGATCCCTGAAAAAAAGGAAAATTGTGATTATGCTGTGCATTGCTTTGTTACCTGCTATTTCTTTTTCTTTTCTTTTCTTTTTTTTTTTTGAGATGAAGTTTCGCTCTTGTTGCCCAGGCTGGAGGGCAATGACGTGATCTCAGCTCATTGCAACCTCCACCTCCTGGGTGCAAGTGATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCTGCCTCGGTCTCCCACAGTGCTGGGATTACAGGCGTGAGCCACTGCATCCAGCCTTTCTTTTTTCTTCCTAGGGTAAGTGCAGGATTTACCTGTTCTTTATGTAATAATATATCCCAAACATTATCCCAGGTATCTTAGAGGTGTGCACCGTAATTTATTTAATCAGTCCCCTCTTCTTGGATGTCTAGGTTGTCTGAACACGTCTTCCTGTTGTGAATGTTATGCATTCTTGTGGGCAAACCTTCACTCTTACCTATAACCATTTACCTAGAGTGATGGGTTTCTTTTCATTTCTTTAGTTTTTTAAGTATGAAAATAATACCCAATTGTTGTAAAAATTCAAACAGTGCAGAGATTTCTAAAGTAAAAAGTGAATTTCCACATTCCTTGCCCACCAACCCCCACCCGACCCCTTTCAACCCCTCTGAGCCTGGGAGGGTTGAGGCAGGGTTCCTGGGTGTGGGACAAGGCAGGGCTCCTTCTCCCTCAGAGGGAGCATAGTTCCCTTCTGCTCCTGTGATGCAGAAGACGTGAGCCCCCAAACTGGGGCTTAGCCTGGGAGGGTTCTTGGCTTCACCGAGGAAAGAATTCAAGAGGGAGCAGGTGGTGTTAGACAGCAACTTTGATTGATGTGGCAGTGGGCAGAGTGTACAGCCCTGTGACTGTATACAGCACAGCATAGCCCCTTTTGAAGCCAGGCTACCCCATAGACACTGTGCCCAAAAGAGCAGCTCAAAGGCAGGGCTGCAGTCCTAGTTAATACCCACTTCTAATTATATGCAAATTAAGGGGCCAGATTATGCAGAAATTTCTAGAAAAAGGGCAGTAACTTCTAGGTTTTCGTCATGGAAAAGGGGCAGTAACTTCTGGGTTTTGCCATGGCAATGGCAAACTGGTATGGCACACTGGTGGGCGTGTCTTATGGAAAGGGGCTTCCCACCCCTCCCTGTTTTAGCTAGTCCTCTGGTCCAGTGTCCAAGCGGGGCCTCCAGAGTGGAGTCCACCTCCTACCTCACCGGTGCCTGGCCTCTCCCACCCCATTAGGAGTCCTCCATCAGTTCCGCTTTGGGTAAAGCAAGCTCTGTTGTGACAGTTTGGAAACGGTTCACCTTCCTGGCCTAGGAATGCAAACAATGGCCAAGGGCAAGCACGTTTTAACTGAACTTTAAAATCGTGCTTTCCTCACAGTAGGTGAATTTCACGCTCAACACATCCATGTAAACAGTCCCCAGAGCAGCCCTTCAAGGCCCCGGCCAGTCCCCACCTCCCCACAGACTCCTAACACCATGATTTAATGTGGCTTGCACATTTTTAAAGGCTTTTGATATTTATTAGCAAAAGATGCGAGAGCCACCCTGCTGGGCTAGCGCTCCCTTCTGGGGGAAACTGAGGCAGGGCGCACGCGACCCTCTCCACTGCGCCCAGTTAGCAGATGGCGGCGTCAGGGGTCGACCCGGGTCGGAAAACTCGCTGGCGCTGCGGCACTAGGGCGCCGGGCCGCTGACTCGCCGACCCCCGTCCCGCCCCCACCCCCGCCCCCGCCCCTGCCGGCCGCCTTAGCGCAACTCCCCGCCCCCCGACCAGCTTCGGCCTGGAGCACGACGGCGCGCCCGGCAGCGGCTGCGGCCCCAGCGGACACGTGATGGCTTCGGACGGCGCCGCGCCCCGCGCCGGCCTCCCTGGTCCCCCTGCAGCCGCCGGCAGCTGCTGAGCCTGCTCAGGTAGCGGCCGCCCCGTGGGAGGGGCGCGCGAGCCTCCAGCCAGCCCGCTGGGCCGCCAGCGCCACCTCTCTCTACGTCCGTCCCCACTCCGCATTCAGCCCTCCTTCCTGTCCCACCCCTCCGTCCAACCCACCCCTCCGTCCAACCCCGCGCCCACCGCTCCGTCCGTGGAGGGGCGGGCGCGCGAGCCTCCAGCCAGCCCGCTGGGCCGCCCGCGCCACCCCTCCCTACGTCCGTCCCCACCTCTCCCTACGTCCGTCCCCACTCCGCATTCAGCCCTCCTTCCTGTCCTACCTCTCCATCCTGACCCACTCCTCCGTCCAACCCCGCGCCCACAGCTCCGTCCCATCCCGCTGCGCCCACTCCTGCGCCCACCCCTCCGTCCCAACCCCTGCACCCACCCCCCCGTCCCACCCACCTGCCCCACCCCCTGCACCTCCCCCCGTGCTGTCCCACTCTGCGGCCACCCTTCTGTCCAACCCCTGCGCCCACCGCTCCGTTCCACCCCCTCCCTGCGCCCACCCCTGCGTCCTCCCTCGCCCCCTTGCGCCCACACTTTCGTTCCAGCCAATCTGGGCACGCACCCCTCCGTCCATCCCCATCCCGCCCCTTGACTCCACATACACTCCCTGGTTCTCTCCCACTTGCCTACACCCACCCCTGCATCCTACCCTCCTCCATCCACCCCTCCATCTCAGCCCCCTGCACCCACCCCGTTCCTGGGCCCACCCTGTTCCTGCACCCACCCCCTCACTTCACCCCCTTACCCTTCGTCTGCCTCCACCCGCCCCTACCCCTCCGTCCACTCTCCACGCTCCATCAGTCCCACACCCCTATCTCCCCCACCCGCGTACATGTATCCCTGCGTCCCCTTCCCGCCGACCGCACCGCTCCCGGGCCTAACCTGCATCTGCTCCATCCCACTCAGACCCGTCCCTCCGTCGCCGCTCCCTCTGCTGGCCACCCACCTCTGCGCCGGCAGGAGCCTTAGTCTTGGTCCCAGCCAAGAGCCGGCTCCTGGTGGGGGGCGCGGGCCGAGAACTCCTGTTCCCACTCACAAAAGGCCACGCTTCCAAACGCTTCCATCCTCGTGCCCACTCCTCCGTCCCGCCTCCTCCCGGTGTACACCCCGGGACTGAGCCGGGCCTGAGCCGGGCCTTGTCGCAGCGCAGGACGGGCGCGCTGCGTGTGGGACCCGCCGCGGCCTCAACCCGGGTCCGCGGGGCACCCGCCGGATGCGCAGCCTGGCCTCTACTACAGCGCCAACGAGCAGTGCCGCGTGGCCTTCGGCCCCAAGGCTGTCGCCTGCACCTTCGCCAGGGAGCACCTGGTGAGTCTGCCGGCGGTGGCCTGGGATTGGCTGTGAGGTCCCTCCGCATCACCCAGCTCACGTCCCCCAAAACGTGCATGGTGAGAACCTGCTGGGTGCCGTGCTAGGCTGAGGTACTAAGCCAGGGCGGCTTAGTTTAATGCTGTCTGTGCCCTCTAGAAATTATTTAAAATGTTTGAACAAAAGCTCCAACATTTTTGTTTGACTGGGCCCCACAAATTATGTAGCTAGTCCTGGGAGGGCCCCTGTGCCCAAGGACTCCTGGCTGAGTGAGGACACCAATCTTAAACAGTTACCAAGGACTTCCCCATCTATTGTGGCTGGAGTCAGACTGGAGGGCTTCCTGGAGGAAGTGGCCTCTAAACTGAACCCACAGCAGAAGTGGGGCTGGTAGGGGGAGGGGAGATGAAGGAGAGCAGGCACCCCAAAAGACAGACTTCCTCGCAGGATTGCATAGGACATTCATGGGCTCCAGGCACTTTTGCCTTGATGGGCCCCTTCCTCCACAAAAAAATTGAGAATTATGTTTTAATATTCTTATACAATGTATAAAGTTTTATGTGTTACTATAAATACAAGTCTTTTTTTTTCCTATTTTTTTTTTTTTTTGAGACAGAGTCTCCCTCTCTGCTCACTGCAGGCTCCGCCTGCCAGATTCACACCATTCTCCTGCN | pathogenic | 153,508 |
Regarding the variant at chromosome 9 and position 133436910, affecting gene ADAMTS13 (ADAM metallopeptidase with thrombospondin type 1 motif 13): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['ADAMTS13-related_disorder'] | CACGTACCTGAGGCCAGACAACAGGTGTGCTTCCTGCCTGCCTTCCTCCCCCAGCGGCACGTCCCCAAGGCTCACCTGTGTTGTAGCCTGTGTCAGCGCCTCATTCCTCTTTCTGGCTGAATCATATTCCACTGCAGGGATAGACCACATTTTCATCCAGTCGTCTGCTGATGGACATCTGAGGTGTTTTCACCTTTTGGCTCCTGTGAACAGAGCCGCTGCGAATGTGCTTGTACATGTTTGAATCCCTGTTTTCAATTCTTTTGGCAGTATGCTGAAGAGCGGAGTTACTGGATCGTATGGGAATTGTATGTTTGACTTTTTTTTTTCTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCCCTGCAACCTTCGCCTCCTGGGTTCAAGCGATTCCCCTGCCTCACCTTCCGGAGTAGCTGGGATTACAGGCACGCGCCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCCACCACGTCAGCCAGGATGGTCTGGATCTCCTGACCTCAGGTGATCTGCCCGCCTTGGCCTCCCAAACTGTTGGGATTACAGGCATGAGCCACCGCTCCCGGCCTATGTTTGACTTTTTTTTTTTCTTATTTTTTTCTTTCTTTCTTTATTTTTTTTTTTTTAGAGATGGAGTCTCGCTCTGTCGCCCAAGCTGGAGTGCGGTGGCGCGATCTCGGCTCACTCTAAGCTCCGCCTCCCAGGTTCACCCCATTCTCCTGCCTCAGCTTCCCGAATAGCTGGGACTACAGACGCCCGCCACCACGCCCGGCTAATTTTTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTAGCCGGGATGGTCTTGATCTCCTGACCTCGTGATCTGCCTGCCTCGGCCTCCCAAAGGGCTGAGATCACAGGCGTGAGCCACCGCGCCCAGCATGTTTGGCTTTTAAAGAAACTGCCAAACCGTTTTCCACAGTGCCTGAACTGTTTCACATTCCCACCAGCATTGCGCCAGGGTTCCAGTTTCCCCACATCCGCTGCAGCACTTGCTGTTTTCTGTTGTTGTTTTTTCTTTTCTCTTCTTTTTTTTTTTTTTTTTTTTAATAGAGATGGGGTTTTGTCATGTTGGCCAGGCTGGTCTTGAACTCCGACCCCAGGTGATCCGCCCACCTTAGCCTCCCAAAGTGCTGGGATTACACGCGTGAGCCATGGCGCCCGGCCTGTTTTCTGTTTTTTGATTTTGGCCATCTCGGTGGTATGAAATGGTAGAAAGATTCTTTTTACATTGAGTTAAATTCTATCTCCTGCTTCGATGGCCCTGGGTGTGGGTTTGTCCCTGGCTGTATTACAGTTCTGCATGTGGTGAGACCCTCCCTTTCCTCCTTCTCCAAATGGACCACCAAGACCTCCCCAGACCGTGAGGGGAGGGTCTTTGGCTGGAGCACAGGGTGGTGGGATTTCGTGGAGGCAGTGTGGTCAGTGTGGCTGTCCAGGGAGTCAACTCCGGTTATCTTCTGTCAGCCCATAAAAGTCCAAGACGCCTGCCTGAGTGCAGAGGCTTCGGTGGTGAGGTCTTTGCTCCATGCTTTGGTTACCTGCCTCTAGGTGCACTACCTAAAGAATACACATCCCCGTCCCTGTTTTATTGAGTTCAGGCCTTGGAAGCAGAGGCTCTGAGCGTAATGCTCTTTCCTGGCTTTCTTCTTCGTTGCTGCCCTGTGTTCTTTACGGATTCCCCGGGGTTTTCCCATCAATAGAGAGAGGCAGGCACTTTTGTCACCCCAGTTTACAGAGCAGGGAACCGAGGCACGGCCTGGAGCTGAGGCCACACCCACATCTTGATCCTGTACTGTAGGGTGCCATGTAGTCTCCCAGTGACAACACCCGCCCCCCGCCCCACCGCCATCCCCCTCCTCTGCCTCCTCCTGGCCAGGCCTGCGAGAAGACCCAGCTGGAGTTCATGTCGCAACAGTGCGCCAGGACCGACGGCCAGCCGCTGCGCTCCTCCCCTGGCGGCGCCTCCTTCTACCACTGGGGTGCTGCTGTACCACACAGCCAAGGTGGGGCCTGCGGAGTGTGGGGTTGGGGGAGGAGCCAGCCCTGGAGACCCTCGGACAGGGCAGAGTCATAGGGGGGTTGGCCTACTATCCCTCCAGCACTGGGCAAAGTGGTTCAGGCTCTGGCATCCCACAGACCATGGATGACATAGTGGCCAGGCCTCGCTGGTAGATCAGGCACTGACATCCCATCTCTGAGTCTCAATTTCCCATCTGTGAAATGGAGATAATAGCAGTAGGTCCCTCCCTGGGCGCTACAAGGATTCAGGGAGATAATCGGAAAATGCCAAGTGTGTTCCTTGGTTCATGATACTTTTTTTGTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGGGGCGTAATCTCAGCTCACTGTAACCTCCGCCTCTGGGATTCAAGGGATTCTTGCCCCTCAGCCTCTCGAATAGCTGGGACTACAGGCTTGCACTACCATGCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCTAGGCTGGTTTCAAACTCCTGACGTCAGGTGATCCGCCTGCCTCGGCTTCCCAAAGTTCTGGGATTACAGGCATGAACCATTGCGCCCAGCCTTGGTTCCTAATTCAATACCATTAATTATTAGATTAGATTAGGATCGTGATTAGGATTATTGCCTTAGGAGGTGGGATGTGGGGAAGATAGAAACCCTTGCCCCAGATGCAAAGGATGAAGCTGGGTGGGGGCTGGGGGACTTGCCCCTCCTGCTCGGTTCAGGACACCCTTTTTCACTCTGCCCTCCCAGGGGATGCTCTGTGCAGACACATGTGCCGGGCCATTGGCGAGAGCTTCATCATGAAGCGTGGAGACAGCTTCCTCGATGGGACCCGGTGTATGCCAAGTGGCCCCCGGGAGGACGGGACCCTGAGCCTGTGTGTGTCGGGCAGCTGCAGGGTAGGCGTGTGTGGACATTGGCGATGGCCCTGGGGCCTACCTGTCCTATCGGAAGGCTCCTGGGGGCAGGTTGGTGGGTGCTGGCCCTGATGGAGCTGCAGTGCCCTCTGCAGGGGAGTGGTGCTGGGGAAAAGGATCTGGACTTGGAGTCAGCCTGGGTTAAGGGCTGCAGTGTGACCTTGGGCAAGTCACTGAGCCCTCTAAGCTTGCTTCCTGTGTAGATGGTGGGGTGCTATAGAAGTGTTGCTGGTTTTGTGGATCCCAGAATCTCAGAGCTGGCAGGGCTGCAGAGTCATTGAGGCCAGCACCCTCCAGTGACACGGGCCCTCTGTCCTTCCCTTTGCATAGACATTTGGCTGTGATGGTAGGATGGACTCCCAGCAGGTATGGGACAGGTGCCAGGTGTGTGGTGGGGACAACAGCACGTGCAGCCCACGGAAGGGCTCTTTCACAGCTGGCAGAGCGAGAGGTAGGCGGCCTCCCTCGGGGCAGAGGCTGGGCTTCCCCCAGCCTCCAAGATGGCCACAGCCCAGAGCGTTGGTGCAGGGGCTGCTCAGGTCACAGGGCCTGCACACTCACTCAGCCCTGGATGCCTCCTGTGGTGTCAGCGTCTCCCTCTTCCACTTCGCCACCCTTCTGTGGCAGGCTCAGGTTTTGGCCTTGATGCTGCTGGGACTGTGGTGCCTCAGTAATGGTCACTCACTGTAGCCGTGCTGCAAAAAAAACACAGACATTGGCCGGGCGCTGTGCTCACGCCTGTACTCCCGGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGTAGTCGGGAGATCACCTACAGCCTGGCCAGTATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGATGGCGGGCGCCTGTAGTCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCCCTCTGCACTCCAGCCCGGGCAACAGAGTGAGACACTGTCTCAAAAAAAAAAAAAAAAAAGTATGGACGTTGTGCATTCTGTGGCAGCT | CACGTACCTGAGGCCAGACAACAGGTGTGCTTCCTGCCTGCCTTCCTCCCCCAGCGGCACGTCCCCAAGGCTCACCTGTGTTGTAGCCTGTGTCAGCGCCTCATTCCTCTTTCTGGCTGAATCATATTCCACTGCAGGGATAGACCACATTTTCATCCAGTCGTCTGCTGATGGACATCTGAGGTGTTTTCACCTTTTGGCTCCTGTGAACAGAGCCGCTGCGAATGTGCTTGTACATGTTTGAATCCCTGTTTTCAATTCTTTTGGCAGTATGCTGAAGAGCGGAGTTACTGGATCGTATGGGAATTGTATGTTTGACTTTTTTTTTTCTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCCCTGCAACCTTCGCCTCCTGGGTTCAAGCGATTCCCCTGCCTCACCTTCCGGAGTAGCTGGGATTACAGGCACGCGCCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCCACCACGTCAGCCAGGATGGTCTGGATCTCCTGACCTCAGGTGATCTGCCCGCCTTGGCCTCCCAAACTGTTGGGATTACAGGCATGAGCCACCGCTCCCGGCCTATGTTTGACTTTTTTTTTTTCTTATTTTTTTCTTTCTTTCTTTATTTTTTTTTTTTTAGAGATGGAGTCTCGCTCTGTCGCCCAAGCTGGAGTGCGGTGGCGCGATCTCGGCTCACTCTAAGCTCCGCCTCCCAGGTTCACCCCATTCTCCTGCCTCAGCTTCCCGAATAGCTGGGACTACAGACGCCCGCCACCACGCCCGGCTAATTTTTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTAGCCGGGATGGTCTTGATCTCCTGACCTCGTGATCTGCCTGCCTCGGCCTCCCAAAGGGCTGAGATCACAGGCGTGAGCCACCGCGCCCAGCATGTTTGGCTTTTAAAGAAACTGCCAAACCGTTTTCCACAGTGCCTGAACTGTTTCACATTCCCACCAGCATTGCGCCAGGGTTCCAGTTTCCCCACATCCGCTGCAGCACTTGCTGTTTTCTGTTGTTGTTTTTTCTTTTCTCTTCTTTTTTTTTTTTTTTTTTTTAATAGAGATGGGGTTTTGTCATGTTGGCCAGGCTGGTCTTGAACTCCGACCCCAGGTGATCCGCCCACCTTAGCCTCCCAAAGTGCTGGGATTACACGCGTGAGCCATGGCGCCCGGCCTGTTTTCTGTTTTTTGATTTTGGCCATCTCGGTGGTATGAAATGGTAGAAAGATTCTTTTTACATTGAGTTAAATTCTATCTCCTGCTTCGATGGCCCTGGGTGTGGGTTTGTCCCTGGCTGTATTACAGTTCTGCATGTGGTGAGACCCTCCCTTTCCTCCTTCTCCAAATGGACCACCAAGACCTCCCCAGACCGTGAGGGGAGGGTCTTTGGCTGGAGCACAGGGTGGTGGGATTTCGTGGAGGCAGTGTGGTCAGTGTGGCTGTCCAGGGAGTCAACTCCGGTTATCTTCTGTCAGCCCATAAAAGTCCAAGACGCCTGCCTGAGTGCAGAGGCTTCGGTGGTGAGGTCTTTGCTCCATGCTTTGGTTACCTGCCTCTAGGTGCACTACCTAAAGAATACACATCCCCGTCCCTGTTTTATTGAGTTCAGGCCTTGGAAGCAGAGGCTCTGAGCGTAATGCTCTTTCCTGGCTTTCTTCTTCGTTGCTGCCCTGTGTTCTTTACGGATTCCCCGGGGTTTTCCCATCAATAGAGAGAGGCAGGCACTTTTGTCACCCCAGTTTACAGAGCAGGGAACCGAGGCACGGCCTGGAGCTGAGGCCACACCCACATCTTGATCCTGTACTGTAGGGTGCCATGTAGTCTCCCAGTGACAACACCCGCCCCCCGCCCCACCGCCATCCCCCTCCTCTGCCTCCTCCTGGCCAGGCCTGCGAGAAGACCCAGCTGGAGTTCATGTCGCAACAGTGCGCCAGGACCGACGGCCAGCCGCTGCGCTCCTCCCCTGGCGGCCTCCTTCTACCACTGGGGTGCTGCTGTACCACACAGCCAAGGTGGGGCCTGCGGAGTGTGGGGTTGGGGGAGGAGCCAGCCCTGGAGACCCTCGGACAGGGCAGAGTCATAGGGGGGTTGGCCTACTATCCCTCCAGCACTGGGCAAAGTGGTTCAGGCTCTGGCATCCCACAGACCATGGATGACATAGTGGCCAGGCCTCGCTGGTAGATCAGGCACTGACATCCCATCTCTGAGTCTCAATTTCCCATCTGTGAAATGGAGATAATAGCAGTAGGTCCCTCCCTGGGCGCTACAAGGATTCAGGGAGATAATCGGAAAATGCCAAGTGTGTTCCTTGGTTCATGATACTTTTTTTGTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGGGGCGTAATCTCAGCTCACTGTAACCTCCGCCTCTGGGATTCAAGGGATTCTTGCCCCTCAGCCTCTCGAATAGCTGGGACTACAGGCTTGCACTACCATGCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCTAGGCTGGTTTCAAACTCCTGACGTCAGGTGATCCGCCTGCCTCGGCTTCCCAAAGTTCTGGGATTACAGGCATGAACCATTGCGCCCAGCCTTGGTTCCTAATTCAATACCATTAATTATTAGATTAGATTAGGATCGTGATTAGGATTATTGCCTTAGGAGGTGGGATGTGGGGAAGATAGAAACCCTTGCCCCAGATGCAAAGGATGAAGCTGGGTGGGGGCTGGGGGACTTGCCCCTCCTGCTCGGTTCAGGACACCCTTTTTCACTCTGCCCTCCCAGGGGATGCTCTGTGCAGACACATGTGCCGGGCCATTGGCGAGAGCTTCATCATGAAGCGTGGAGACAGCTTCCTCGATGGGACCCGGTGTATGCCAAGTGGCCCCCGGGAGGACGGGACCCTGAGCCTGTGTGTGTCGGGCAGCTGCAGGGTAGGCGTGTGTGGACATTGGCGATGGCCCTGGGGCCTACCTGTCCTATCGGAAGGCTCCTGGGGGCAGGTTGGTGGGTGCTGGCCCTGATGGAGCTGCAGTGCCCTCTGCAGGGGAGTGGTGCTGGGGAAAAGGATCTGGACTTGGAGTCAGCCTGGGTTAAGGGCTGCAGTGTGACCTTGGGCAAGTCACTGAGCCCTCTAAGCTTGCTTCCTGTGTAGATGGTGGGGTGCTATAGAAGTGTTGCTGGTTTTGTGGATCCCAGAATCTCAGAGCTGGCAGGGCTGCAGAGTCATTGAGGCCAGCACCCTCCAGTGACACGGGCCCTCTGTCCTTCCCTTTGCATAGACATTTGGCTGTGATGGTAGGATGGACTCCCAGCAGGTATGGGACAGGTGCCAGGTGTGTGGTGGGGACAACAGCACGTGCAGCCCACGGAAGGGCTCTTTCACAGCTGGCAGAGCGAGAGGTAGGCGGCCTCCCTCGGGGCAGAGGCTGGGCTTCCCCCAGCCTCCAAGATGGCCACAGCCCAGAGCGTTGGTGCAGGGGCTGCTCAGGTCACAGGGCCTGCACACTCACTCAGCCCTGGATGCCTCCTGTGGTGTCAGCGTCTCCCTCTTCCACTTCGCCACCCTTCTGTGGCAGGCTCAGGTTTTGGCCTTGATGCTGCTGGGACTGTGGTGCCTCAGTAATGGTCACTCACTGTAGCCGTGCTGCAAAAAAAACACAGACATTGGCCGGGCGCTGTGCTCACGCCTGTACTCCCGGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGTAGTCGGGAGATCACCTACAGCCTGGCCAGTATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGATGGCGGGCGCCTGTAGTCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCCCTCTGCACTCCAGCCCGGGCAACAGAGTGAGACACTGTCTCAAAAAAAAAAAAAAAAAAGTATGGACGTTGTGCATTCTGTGGCAGCTNN | pathogenic | 153,526 |
Evaluate the clinical significance of the mutation at chromosome 9, position 133437768 in gene ADAMTS13 (ADAM metallopeptidase with thrombospondin type 1 motif 13): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['ADAMTS13-related_disorder', 'Upshaw-Schulman_syndrome'] | GGCGGGGTTTCACCATGTTAGCCGGGATGGTCTTGATCTCCTGACCTCGTGATCTGCCTGCCTCGGCCTCCCAAAGGGCTGAGATCACAGGCGTGAGCCACCGCGCCCAGCATGTTTGGCTTTTAAAGAAACTGCCAAACCGTTTTCCACAGTGCCTGAACTGTTTCACATTCCCACCAGCATTGCGCCAGGGTTCCAGTTTCCCCACATCCGCTGCAGCACTTGCTGTTTTCTGTTGTTGTTTTTTCTTTTCTCTTCTTTTTTTTTTTTTTTTTTTTAATAGAGATGGGGTTTTGTCATGTTGGCCAGGCTGGTCTTGAACTCCGACCCCAGGTGATCCGCCCACCTTAGCCTCCCAAAGTGCTGGGATTACACGCGTGAGCCATGGCGCCCGGCCTGTTTTCTGTTTTTTGATTTTGGCCATCTCGGTGGTATGAAATGGTAGAAAGATTCTTTTTACATTGAGTTAAATTCTATCTCCTGCTTCGATGGCCCTGGGTGTGGGTTTGTCCCTGGCTGTATTACAGTTCTGCATGTGGTGAGACCCTCCCTTTCCTCCTTCTCCAAATGGACCACCAAGACCTCCCCAGACCGTGAGGGGAGGGTCTTTGGCTGGAGCACAGGGTGGTGGGATTTCGTGGAGGCAGTGTGGTCAGTGTGGCTGTCCAGGGAGTCAACTCCGGTTATCTTCTGTCAGCCCATAAAAGTCCAAGACGCCTGCCTGAGTGCAGAGGCTTCGGTGGTGAGGTCTTTGCTCCATGCTTTGGTTACCTGCCTCTAGGTGCACTACCTAAAGAATACACATCCCCGTCCCTGTTTTATTGAGTTCAGGCCTTGGAAGCAGAGGCTCTGAGCGTAATGCTCTTTCCTGGCTTTCTTCTTCGTTGCTGCCCTGTGTTCTTTACGGATTCCCCGGGGTTTTCCCATCAATAGAGAGAGGCAGGCACTTTTGTCACCCCAGTTTACAGAGCAGGGAACCGAGGCACGGCCTGGAGCTGAGGCCACACCCACATCTTGATCCTGTACTGTAGGGTGCCATGTAGTCTCCCAGTGACAACACCCGCCCCCCGCCCCACCGCCATCCCCCTCCTCTGCCTCCTCCTGGCCAGGCCTGCGAGAAGACCCAGCTGGAGTTCATGTCGCAACAGTGCGCCAGGACCGACGGCCAGCCGCTGCGCTCCTCCCCTGGCGGCGCCTCCTTCTACCACTGGGGTGCTGCTGTACCACACAGCCAAGGTGGGGCCTGCGGAGTGTGGGGTTGGGGGAGGAGCCAGCCCTGGAGACCCTCGGACAGGGCAGAGTCATAGGGGGGTTGGCCTACTATCCCTCCAGCACTGGGCAAAGTGGTTCAGGCTCTGGCATCCCACAGACCATGGATGACATAGTGGCCAGGCCTCGCTGGTAGATCAGGCACTGACATCCCATCTCTGAGTCTCAATTTCCCATCTGTGAAATGGAGATAATAGCAGTAGGTCCCTCCCTGGGCGCTACAAGGATTCAGGGAGATAATCGGAAAATGCCAAGTGTGTTCCTTGGTTCATGATACTTTTTTTGTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGGGGCGTAATCTCAGCTCACTGTAACCTCCGCCTCTGGGATTCAAGGGATTCTTGCCCCTCAGCCTCTCGAATAGCTGGGACTACAGGCTTGCACTACCATGCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCTAGGCTGGTTTCAAACTCCTGACGTCAGGTGATCCGCCTGCCTCGGCTTCCCAAAGTTCTGGGATTACAGGCATGAACCATTGCGCCCAGCCTTGGTTCCTAATTCAATACCATTAATTATTAGATTAGATTAGGATCGTGATTAGGATTATTGCCTTAGGAGGTGGGATGTGGGGAAGATAGAAACCCTTGCCCCAGATGCAAAGGATGAAGCTGGGTGGGGGCTGGGGGACTTGCCCCTCCTGCTCGGTTCAGGACACCCTTTTTCACTCTGCCCTCCCAGGGGATGCTCTGTGCAGACACATGTGCCGGGCCATTGGCGAGAGCTTCATCATGAAGCGTGGAGACAGCTTCCTCGATGGGACCCGGTGTATGCCAAGTGGCCCCCGGGAGGACGGGACCCTGAGCCTGTGTGTGTCGGGCAGCTGCAGGGTAGGCGTGTGTGGACATTGGCGATGGCCCTGGGGCCTACCTGTCCTATCGGAAGGCTCCTGGGGGCAGGTTGGTGGGTGCTGGCCCTGATGGAGCTGCAGTGCCCTCTGCAGGGGAGTGGTGCTGGGGAAAAGGATCTGGACTTGGAGTCAGCCTGGGTTAAGGGCTGCAGTGTGACCTTGGGCAAGTCACTGAGCCCTCTAAGCTTGCTTCCTGTGTAGATGGTGGGGTGCTATAGAAGTGTTGCTGGTTTTGTGGATCCCAGAATCTCAGAGCTGGCAGGGCTGCAGAGTCATTGAGGCCAGCACCCTCCAGTGACACGGGCCCTCTGTCCTTCCCTTTGCATAGACATTTGGCTGTGATGGTAGGATGGACTCCCAGCAGGTATGGGACAGGTGCCAGGTGTGTGGTGGGGACAACAGCACGTGCAGCCCACGGAAGGGCTCTTTCACAGCTGGCAGAGCGAGAGGTAGGCGGCCTCCCTCGGGGCAGAGGCTGGGCTTCCCCCAGCCTCCAAGATGGCCACAGCCCAGAGCGTTGGTGCAGGGGCTGCTCAGGTCACAGGGCCTGCACACTCACTCAGCCCTGGATGCCTCCTGTGGTGTCAGCGTCTCCCTCTTCCACTTCGCCACCCTTCTGTGGCAGGCTCAGGTTTTGGCCTTGATGCTGCTGGGACTGTGGTGCCTCAGTAATGGTCACTCACTGTAGCCGTGCTGCAAAAAAAACACAGACATTGGCCGGGCGCTGTGCTCACGCCTGTACTCCCGGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGTAGTCGGGAGATCACCTACAGCCTGGCCAGTATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGATGGCGGGCGCCTGTAGTCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCCCTCTGCACTCCAGCCCGGGCAACAGAGTGAGACACTGTCTCAAAAAAAAAAAAAAAAAAGTATGGACGTTGTGCATTCTGTGGCAGCTACCCTCTTCTCTCCTGCTCAAGAAATCCCACTGAGAGGGACACAAGTGAATGAGAGGGTTGGTAGTTACATTTGGAAAATCTTTGACTTTGGTGTATATATGAGGTCAAAAACCATTTGCAAATGCCAGTGCTTCTATGGAGAGCAGAGACTTGAGCCCTGCCTCCCTCTGGCTTGCCCCACTGTGCTGGAGAACCTTGGACCCGGTCCCTTCTCCCAGCCAGGGCAGAGCCTTGGCAGGTGGTCCTCCAGCCTGCTTTTAATTGCCCCCATGACAGGGGACTCACTGCTGCTGGAGCCAGCCCCATGGCATTGTTCAATTTTTCCCGACCAGCTAAGATCAGCTCCCTTTGTCTGTGGTGTGGTGGCTGTGAGGTCCACGCATCTCTCCTTCTTTTCTTCTTTCTAGAATATGTCACGTTTCTGACAGTTACCCCCAACCTGACCAGTGTCTACATTGCCAACCACAGGCCTCTCTTCACACACTTGGGTGAGTTGACTGGAGGACTCCCACCCAGTTAGCTAGACTGCAAAGGTGCAGAGCACTGTTGCCAAGATGCCCTCACTTCTGACATCACCCGCAAGTTCAGGGGGTTCCCCAAACCACCCTCAGGCTTGATAGTTGACTAGGAAGACTCCCAGAGCTCACTGAGAGCTGTGGCACATGGCTGCGGCTCCTTCCAGAAGAACACAGGTTAGAATTGTCCAAGGGAAGAGATGTAGGCAGAGTCTGGGAGGGTCCAACCAGGAGGCCTGATGTCTCAGGGATGTGACACCCTTCTAGCATTGGAGCGTGGCCATACGCATGGAGTATTGCCCACACAGAAAGCCCACTGAGTGGGAGTTGAGAGTTTTTCCT | GGCGGGGTTTCACCATGTTAGCCGGGATGGTCTTGATCTCCTGACCTCGTGATCTGCCTGCCTCGGCCTCCCAAAGGGCTGAGATCACAGGCGTGAGCCACCGCGCCCAGCATGTTTGGCTTTTAAAGAAACTGCCAAACCGTTTTCCACAGTGCCTGAACTGTTTCACATTCCCACCAGCATTGCGCCAGGGTTCCAGTTTCCCCACATCCGCTGCAGCACTTGCTGTTTTCTGTTGTTGTTTTTTCTTTTCTCTTCTTTTTTTTTTTTTTTTTTTTAATAGAGATGGGGTTTTGTCATGTTGGCCAGGCTGGTCTTGAACTCCGACCCCAGGTGATCCGCCCACCTTAGCCTCCCAAAGTGCTGGGATTACACGCGTGAGCCATGGCGCCCGGCCTGTTTTCTGTTTTTTGATTTTGGCCATCTCGGTGGTATGAAATGGTAGAAAGATTCTTTTTACATTGAGTTAAATTCTATCTCCTGCTTCGATGGCCCTGGGTGTGGGTTTGTCCCTGGCTGTATTACAGTTCTGCATGTGGTGAGACCCTCCCTTTCCTCCTTCTCCAAATGGACCACCAAGACCTCCCCAGACCGTGAGGGGAGGGTCTTTGGCTGGAGCACAGGGTGGTGGGATTTCGTGGAGGCAGTGTGGTCAGTGTGGCTGTCCAGGGAGTCAACTCCGGTTATCTTCTGTCAGCCCATAAAAGTCCAAGACGCCTGCCTGAGTGCAGAGGCTTCGGTGGTGAGGTCTTTGCTCCATGCTTTGGTTACCTGCCTCTAGGTGCACTACCTAAAGAATACACATCCCCGTCCCTGTTTTATTGAGTTCAGGCCTTGGAAGCAGAGGCTCTGAGCGTAATGCTCTTTCCTGGCTTTCTTCTTCGTTGCTGCCCTGTGTTCTTTACGGATTCCCCGGGGTTTTCCCATCAATAGAGAGAGGCAGGCACTTTTGTCACCCCAGTTTACAGAGCAGGGAACCGAGGCACGGCCTGGAGCTGAGGCCACACCCACATCTTGATCCTGTACTGTAGGGTGCCATGTAGTCTCCCAGTGACAACACCCGCCCCCCGCCCCACCGCCATCCCCCTCCTCTGCCTCCTCCTGGCCAGGCCTGCGAGAAGACCCAGCTGGAGTTCATGTCGCAACAGTGCGCCAGGACCGACGGCCAGCCGCTGCGCTCCTCCCCTGGCGGCGCCTCCTTCTACCACTGGGGTGCTGCTGTACCACACAGCCAAGGTGGGGCCTGCGGAGTGTGGGGTTGGGGGAGGAGCCAGCCCTGGAGACCCTCGGACAGGGCAGAGTCATAGGGGGGTTGGCCTACTATCCCTCCAGCACTGGGCAAAGTGGTTCAGGCTCTGGCATCCCACAGACCATGGATGACATAGTGGCCAGGCCTCGCTGGTAGATCAGGCACTGACATCCCATCTCTGAGTCTCAATTTCCCATCTGTGAAATGGAGATAATAGCAGTAGGTCCCTCCCTGGGCGCTACAAGGATTCAGGGAGATAATCGGAAAATGCCAAGTGTGTTCCTTGGTTCATGATACTTTTTTTGTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGGGGCGTAATCTCAGCTCACTGTAACCTCCGCCTCTGGGATTCAAGGGATTCTTGCCCCTCAGCCTCTCGAATAGCTGGGACTACAGGCTTGCACTACCATGCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCTAGGCTGGTTTCAAACTCCTGACGTCAGGTGATCCGCCTGCCTCGGCTTCCCAAAGTTCTGGGATTACAGGCATGAACCATTGCGCCCAGCCTTGGTTCCTAATTCAATACCATTAATTATTAGATTAGATTAGGATCGTGATTAGGATTATTGCCTTAGGAGGTGGGATGTGGGGAAGATAGAAACCCTTGCCCCAGATGCAAAGGATGAAGCTGGGTGGGGGCTGGGGGACTTGCCCCTCCTGCTCGGTTCAGGACACCCTTTTTCACTCTGCCCTCCCAGGGGATGCTCTGTGCAGACACGTGCCGGGCCATTGGCGAGAGCTTCATCATGAAGCGTGGAGACAGCTTCCTCGATGGGACCCGGTGTATGCCAAGTGGCCCCCGGGAGGACGGGACCCTGAGCCTGTGTGTGTCGGGCAGCTGCAGGGTAGGCGTGTGTGGACATTGGCGATGGCCCTGGGGCCTACCTGTCCTATCGGAAGGCTCCTGGGGGCAGGTTGGTGGGTGCTGGCCCTGATGGAGCTGCAGTGCCCTCTGCAGGGGAGTGGTGCTGGGGAAAAGGATCTGGACTTGGAGTCAGCCTGGGTTAAGGGCTGCAGTGTGACCTTGGGCAAGTCACTGAGCCCTCTAAGCTTGCTTCCTGTGTAGATGGTGGGGTGCTATAGAAGTGTTGCTGGTTTTGTGGATCCCAGAATCTCAGAGCTGGCAGGGCTGCAGAGTCATTGAGGCCAGCACCCTCCAGTGACACGGGCCCTCTGTCCTTCCCTTTGCATAGACATTTGGCTGTGATGGTAGGATGGACTCCCAGCAGGTATGGGACAGGTGCCAGGTGTGTGGTGGGGACAACAGCACGTGCAGCCCACGGAAGGGCTCTTTCACAGCTGGCAGAGCGAGAGGTAGGCGGCCTCCCTCGGGGCAGAGGCTGGGCTTCCCCCAGCCTCCAAGATGGCCACAGCCCAGAGCGTTGGTGCAGGGGCTGCTCAGGTCACAGGGCCTGCACACTCACTCAGCCCTGGATGCCTCCTGTGGTGTCAGCGTCTCCCTCTTCCACTTCGCCACCCTTCTGTGGCAGGCTCAGGTTTTGGCCTTGATGCTGCTGGGACTGTGGTGCCTCAGTAATGGTCACTCACTGTAGCCGTGCTGCAAAAAAAACACAGACATTGGCCGGGCGCTGTGCTCACGCCTGTACTCCCGGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGTAGTCGGGAGATCACCTACAGCCTGGCCAGTATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGATGGCGGGCGCCTGTAGTCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCCCTCTGCACTCCAGCCCGGGCAACAGAGTGAGACACTGTCTCAAAAAAAAAAAAAAAAAAGTATGGACGTTGTGCATTCTGTGGCAGCTACCCTCTTCTCTCCTGCTCAAGAAATCCCACTGAGAGGGACACAAGTGAATGAGAGGGTTGGTAGTTACATTTGGAAAATCTTTGACTTTGGTGTATATATGAGGTCAAAAACCATTTGCAAATGCCAGTGCTTCTATGGAGAGCAGAGACTTGAGCCCTGCCTCCCTCTGGCTTGCCCCACTGTGCTGGAGAACCTTGGACCCGGTCCCTTCTCCCAGCCAGGGCAGAGCCTTGGCAGGTGGTCCTCCAGCCTGCTTTTAATTGCCCCCATGACAGGGGACTCACTGCTGCTGGAGCCAGCCCCATGGCATTGTTCAATTTTTCCCGACCAGCTAAGATCAGCTCCCTTTGTCTGTGGTGTGGTGGCTGTGAGGTCCACGCATCTCTCCTTCTTTTCTTCTTTCTAGAATATGTCACGTTTCTGACAGTTACCCCCAACCTGACCAGTGTCTACATTGCCAACCACAGGCCTCTCTTCACACACTTGGGTGAGTTGACTGGAGGACTCCCACCCAGTTAGCTAGACTGCAAAGGTGCAGAGCACTGTTGCCAAGATGCCCTCACTTCTGACATCACCCGCAAGTTCAGGGGGTTCCCCAAACCACCCTCAGGCTTGATAGTTGACTAGGAAGACTCCCAGAGCTCACTGAGAGCTGTGGCACATGGCTGCGGCTCCTTCCAGAAGAACACAGGTTAGAATTGTCCAAGGGAAGAGATGTAGGCAGAGTCTGGGAGGGTCCAACCAGGAGGCCTGATGTCTCAGGGATGTGACACCCTTCTAGCATTGGAGCGTGGCCATACGCATGGAGTATTGCCCACACAGAAAGCCCACTGAGTGGGAGTTGAGAGTTTTTCCTNN | pathogenic | 153,527 |
Clinically, how would you classify the variant at chromosome 9, position 133449838, gene ADAMTS13 (ADAM metallopeptidase with thrombospondin type 1 motif 13): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Thrombotic_thrombocytopenic_purpura'] | CGCCATGATGGCCACGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGAGCCTATTTCTTTTGAGGATATTCCTAAAAGAGAGACTTGAGAAAACTGGCCCTAATAACATCTTTATGATAGACACAATCAGAGATTTTCATATTGTGATTTTTTTTTCTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTCCAGTGGCGCAGTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCGTCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCGCACCACCACGCTCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTCGTCTCGAACTCCTGACCTTGTGATCCGCCGCCCAAAGTGCTGTGATTACAGGCGTGAGCCACTGTGCCTGGCCCATATTGCAATTCTTATAATGCCTCTCGGTCAACAATAACAGCTACCATTTGTCAAGTGTCTACTGTGTGCCAGGCACTTGTTATCTTCCCTTTTAAAAATCTTTATAAATGATTCTGCAAGGTAGATGCCATTATCTTTTTTTCTAAATCTAAGATTCAGAGGGTTAAGTCAGTTGTCTGAGGTCACACAGCTGGTAAGTGGCAGAGCCGGGATTGAAACCCATGCGGGCCTTATGTGCTAGAGGTGTCCAGTGAGCCTGGGCTGCAGTCCTTGCTGAGCCTGTCCCTTGGGGCTCTGGGTCTCTGCTTTGTCCACGCAGGTCTGATGGAGCTGCGTTTCCTGTGCATGGACTCTGCCCTCAGGGTGCCTGTCCAGGAAGAGCTGTGTGGCCTGGCAAGCAAGCCTGGGAGCCGGCGGGAGGTCTGCCAGGCTGTCCCGTGCCCTGCTCGGTGAGTGAGGGGAGCAAGACTGTGTGCTGGCCTTCTCCCTGTAAGTGGGAGACCCGAGCCTTGGCTCCATGCCCGGTGACCTGCGGAGGGGGGCAGGTGCTGCTGGCTGTGCACTGTGTGAGGCTGGACCATGGCCGCCCCATCCCCCTGCCTCACTCCAAGTGCAGGCCAGAGCCCCGGCCCAGCCCCTTTGAGGACTGCAACCCAGAGCCCTGCCCTGCCAGGTGGGCCCCTTCCCAAGGAGACAGGGGGTGCTAGGTCTGCATCCTGGCTCTTTCCTCACCTCCAAGCCAGACCTTTTGACCCTCAGTGTCCTCACCAGTGGGAGCAGGTCATTTTGTGCCCCCAGAAGACTGGGGGAGTTTAATGAAAGGATTAGATGCATGTAAAGTACATGCTAAATGCAATGAGTGTAAAATGCATGCTCGATGCAACGCGTGTAAAGTACATTGCACAGGATCTGGGATGCTGTGGGTGCACATGGTTGCTGGTGCGTTTCTTCATCGCCTGCTCTTTATGGAGCACCTAGGCCCCGGGGCCGTCCTGGAGCTAGGGGACACAGCAGAGAACAAGGCAGACAAATGTCCCTGACCTCCTGGAGCAAATGCAGGGGGAAAGGGGGACAGATAATAATAGGACAGGCGGGGAATGCAGTTTGATGGATGGTGTTCAGTGCGATGCAGCCAAACACAGCGGGAGGGGAGGAGGGGAGGGCTGGCGGGGTGGGCTCCAGGGCGGTGGTGCTGGGATCACTGTTGAAGACAGACATGCAGGGCCCTTGGGTGCCCGGACCCCTGCCCCCACTGTCTCTGGGATACGACATCTGTCGTTTGCCCTCACCTTTCTCTTCTGTAAAATGGGTTTGTCCAAATGTTCTGTCCACTCTGCCAAGCCTCTTGGTGAGGACACAAGGGGGCCTCCAGAAAGAGAACCTCTCCGGGCCCTTCCCAGCTTCCTGTCTCTTCCTAGTCTGGGGAAATGAAGGGGAGACCTGGCTCCCCTGGGTTCCCAGGCCCTGGGGCTGTTTGGGGTCCCTGACTCCAGTTTGCTCCAGGTGGCAGTACAAGCTGGCGGCCTGCAGCGTGAGCTGTGGGAGAGGGGTCGTGCGGAGGATCCTGTATTGTGCCCGGGCCCATGGGGAGGACGATGGTGAGGAGATCCTGTTGGACACCCAGTGCCAGGGGCTGCCTCGCCCGGAACCCCAGGAGGCCTGCAGCCTGGAGCCCTGCCCACCTAGGTGAGTCAGCCGGTGATGGGAGGGGCAGCTCCTGGTGTGTGCAGATGCCAGGCCAGGCGCTGTGGTGTGTGCCTGTAATCGCAGCTACTTGGAAAGCTGAATCAGGAGAACCACTTGAGTCCAGGAGTGCAAGTCCAACCTGGGCAACACAGTGAGACCTCATCTCTAAAAAAAAAACAAGACGGGGCCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCGCTATGGAAGGCTGAAGCGGGTGGATTACCTGAGGTCAGGAGCTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTTTACTAAAAATACAACAATTAGGCTGGGCGCGGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTTGGGAGTTCGAGACCAGCCTGTCCAACATACAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGTACATGCCTGTAATCCCAGTTACTTGGGAGGCTGAGGCAGAATCGCTTGAACCGGGGAGGCCAAGGTTGTGGTGAGCCAAGATTACGCCACTGGACTCCAGCCTGGCTAACAGCAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAAAAGAAAACCCACAAAAATTAGCCTGGCGTGGTGGTGTGCACCTGTCATCCCAGCTACTTCAGAGGCGGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCGCCGCTGGCACTCCAGCCTGGGCTACAGAGCGAGACTCCGTCTCAAAAACAAAACAACAAAACAAAACAAGACGGGGTGGGGGGCTCAGTGGCCCAAGAGCCAGTCTGTAAGGAATAGGGCTACCTGGCAGGCTGTGCTAGTTGTGGGAGGTGAAGTTTAAGCACCATGCAGGCAGGGTGCAGTGTGGGGAGGCCTGGGGGACAGAGGAGGCAGCATTTGAGCAGAACCTAAAGCTGTGAGCACCAGCATTCTGATGTGGAAGACGGGAGGGATGGAGGTCTCCACAGGGACACACACAGCCACACTAGGACACGGGACAGAATCATGTTCAAGTCCGTGGGGTCCGGAGCCCAGTGGTAAAGGGCGAACATTTGCCTACCTCATTTACAATTCTTTAATGGTTTCTTTTTGTAGGTTTGCATTTTTAGTAAAGAAATACTTTTCTATATCATACAGAAACGTCCAGAAAAGAATGTAACAGACATGTATGTTCCAGCACTCCAGTTTAATAGATAGCATCCTACTGCCATGTTTCCTTCCTGTCCACTTACTTTTATTTATTTAATTTATTTATTTTGAGACGGAGTCTCGCTTTGTTGCCCAGGCAGTGATGCAATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCCATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGAATACAGGCACCCACAACCACACCCAGCTAACTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTGGTCAGGCCGATCTTGAACTCCTGACCTCAGGAGATCTGCCTACCTCAGCATTCCAAAGTGCTGGGATTACAGATGTGAGCCATCACACCTGGCCAGCCTCCTTAGTTTTAAATAAATCCAGTTACAGATAAGATTTCACTTAAATTTAGGCTGGTCATGGCTCACGCCTGTAATCTCAGCACTTCAGGAGGCTGAGATGGGTGGATCATTTGAGCCCAGGAGTTTGAGACCAGCCTGGACAACATGCCAAAACCTTGTCTCTACTATAAATACAAAAATTAGCCGGGCATGGTGGTGCATGCCAGTATCCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACCTGAACCTTGGGAAGTCAAGGCTGCAGTGAGCAGAGATCACACCACCACTGCATGCCAGCCTGGGCAACAGCATGAGA | CGCCATGATGGCCACGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGAGCCTATTTCTTTTGAGGATATTCCTAAAAGAGAGACTTGAGAAAACTGGCCCTAATAACATCTTTATGATAGACACAATCAGAGATTTTCATATTGTGATTTTTTTTTCTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTCCAGTGGCGCAGTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCGTCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCGCACCACCACGCTCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTCGTCTCGAACTCCTGACCTTGTGATCCGCCGCCCAAAGTGCTGTGATTACAGGCGTGAGCCACTGTGCCTGGCCCATATTGCAATTCTTATAATGCCTCTCGGTCAACAATAACAGCTACCATTTGTCAAGTGTCTACTGTGTGCCAGGCACTTGTTATCTTCCCTTTTAAAAATCTTTATAAATGATTCTGCAAGGTAGATGCCATTATCTTTTTTTCTAAATCTAAGATTCAGAGGGTTAAGTCAGTTGTCTGAGGTCACACAGCTGGTAAGTGGCAGAGCCGGGATTGAAACCCATGCGGGCCTTATGTGCTAGAGGTGTCCAGTGAGCCTGGGCTGCAGTCCTTGCTGAGCCTGTCCCTTGGGGCTCTGGGTCTCTGCTTTGTCCACGCAGGTCTGATGGAGCTGCGTTTCCTGTGCATGGACTCTGCCCTCAGGGTGCCTGTCCAGGAAGAGCTGTGTGGCCTGGCAAGCAAGCCTGGGAGCCGGCGGGAGGTCTGCCAGGCTGTCCCGTGCCCTGCTCGGTGAGTGAGGGGAGCAAGACTGTGTGCTGGCCTTCTCCCTGTAAGTGGGAGACCCGAGCCTTGGCTCCATGCCCGGTGACCTGCGGAGGGGGGCAGGTGCTGCTGGCTGTGCACTGTGTGAGGCTGGACCATGGCCGCCCCATCCCCCTGCCTCACTCCAAGTGCAGGCCAGAGCCCCGGCCCAGCCCCTTTGAGGACTGCAACCCAGAGCCCTGCCCTGCCAGGTGGGCCCCTTCCCAAGGAGACAGGGGGTGCTAGGTCTGCATCCTGGCTCTTTCCTCACCTCCAAGCCAGACCTTTTGACCCTCAGTGTCCTCACCAGTGGGAGCAGGTCATTTTGTGCCCCCAGAAGACTGGGGGAGTTTAATGAAAGGATTAGATGCATGTAAAGTACATGCTAAATGCAATGAGTGTAAAATGCATGCTCGATGCAACGCGTGTAAAGTACATTGCACAGGATCTGGGATGCTGTGGGTGCACATGGTTGCTGGTGCGTTTCTTCATCGCCTGCTCTTTATGGAGCACCTAGGCCCCGGGGCCGTCCTGGAGCTAGGGGACACAGCAGAGAACAAGGCAGACAAATGTCCCTGACCTCCTGGAGCAAATGCAGGGGGAAAGGGGGACAGATAATAATAGGACAGGCGGGGAATGCAGTTTGATGGATGGTGTTCAGTGCGATGCAGCCAAACACAGCGGGAGGGGAGGAGGGGAGGGCTGGCGGGGTGGGCTCCAGGGCGGTGGTGCTGGGATCACTGTTGAAGACAGACATGCAGGGCCCTTGGGTGCCCGGACCCCTGCCCCCACTGTCTCTGGGATACGACATCTGTCGTTTGCCCTCACCTTTCTCTTCTGTAAAATGGGTTTGTCCAAATGTTCTGTCCACTCTGCCAAGCCTCTTGGTGAGGACACAAGGGGGCCTCCAGAAAGAGAACCTCTCCGGGCCCTTCCCAGCTTCCTGTCTCTTCCTAGTCTGGGGAAATGAAGGGGAGACCTGGCTCCCCTGGGTTCCCAGGCCCTGGGGCTGTTTGGGGTCCCTGACTCCAGTTTGCTCCAGGTGGCAGTACAAGCTGGCGGCCTGCAGCGTGAGCTGTGGGAGAGGGGTCGTGCGGAGGCCCATGGGGAGGACGATGGTGAGGAGATCCTGTTGGACACCCAGTGCCAGGGGCTGCCTCGCCCGGAACCCCAGGAGGCCTGCAGCCTGGAGCCCTGCCCACCTAGGTGAGTCAGCCGGTGATGGGAGGGGCAGCTCCTGGTGTGTGCAGATGCCAGGCCAGGCGCTGTGGTGTGTGCCTGTAATCGCAGCTACTTGGAAAGCTGAATCAGGAGAACCACTTGAGTCCAGGAGTGCAAGTCCAACCTGGGCAACACAGTGAGACCTCATCTCTAAAAAAAAAACAAGACGGGGCCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCGCTATGGAAGGCTGAAGCGGGTGGATTACCTGAGGTCAGGAGCTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTTTACTAAAAATACAACAATTAGGCTGGGCGCGGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTTGGGAGTTCGAGACCAGCCTGTCCAACATACAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGTACATGCCTGTAATCCCAGTTACTTGGGAGGCTGAGGCAGAATCGCTTGAACCGGGGAGGCCAAGGTTGTGGTGAGCCAAGATTACGCCACTGGACTCCAGCCTGGCTAACAGCAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAAAAGAAAACCCACAAAAATTAGCCTGGCGTGGTGGTGTGCACCTGTCATCCCAGCTACTTCAGAGGCGGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCGCCGCTGGCACTCCAGCCTGGGCTACAGAGCGAGACTCCGTCTCAAAAACAAAACAACAAAACAAAACAAGACGGGGTGGGGGGCTCAGTGGCCCAAGAGCCAGTCTGTAAGGAATAGGGCTACCTGGCAGGCTGTGCTAGTTGTGGGAGGTGAAGTTTAAGCACCATGCAGGCAGGGTGCAGTGTGGGGAGGCCTGGGGGACAGAGGAGGCAGCATTTGAGCAGAACCTAAAGCTGTGAGCACCAGCATTCTGATGTGGAAGACGGGAGGGATGGAGGTCTCCACAGGGACACACACAGCCACACTAGGACACGGGACAGAATCATGTTCAAGTCCGTGGGGTCCGGAGCCCAGTGGTAAAGGGCGAACATTTGCCTACCTCATTTACAATTCTTTAATGGTTTCTTTTTGTAGGTTTGCATTTTTAGTAAAGAAATACTTTTCTATATCATACAGAAACGTCCAGAAAAGAATGTAACAGACATGTATGTTCCAGCACTCCAGTTTAATAGATAGCATCCTACTGCCATGTTTCCTTCCTGTCCACTTACTTTTATTTATTTAATTTATTTATTTTGAGACGGAGTCTCGCTTTGTTGCCCAGGCAGTGATGCAATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCCATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGAATACAGGCACCCACAACCACACCCAGCTAACTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTGGTCAGGCCGATCTTGAACTCCTGACCTCAGGAGATCTGCCTACCTCAGCATTCCAAAGTGCTGGGATTACAGATGTGAGCCATCACACCTGGCCAGCCTCCTTAGTTTTAAATAAATCCAGTTACAGATAAGATTTCACTTAAATTTAGGCTGGTCATGGCTCACGCCTGTAATCTCAGCACTTCAGGAGGCTGAGATGGGTGGATCATTTGAGCCCAGGAGTTTGAGACCAGCCTGGACAACATGCCAAAACCTTGTCTCTACTATAAATACAAAAATTAGCCGGGCATGGTGGTGCATGCCAGTATCCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACCTGAACCTTGGGAAGTCAAGGCTGCAGTGAGCAGAGATCACACCACCACTGCATGCCAGCCTGGGCAACAGCATGAGANNNNNNNNNNNNNNNNNNN | pathogenic | 153,563 |
Is chromosome 9, position 133454567, gene ADAMTS13 (ADAM metallopeptidase with thrombospondin type 1 motif 13) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Upshaw-Schulman_syndrome'] | CCACATCACATTTAGAGATGATCTGGGATTTTATGGGAATTGCAGGGTTTTTCACACTGCACGCTGCCTGCATGGTGCTTAAACTTCACCTCCCACACCTAGCACAGCCTACCAGGTAGCCCTGTTCTCTACAGACCACCTCTTGGGCCACTGAGCCTCCCCTCACTTTTTTTTAGAGATGGGGTCTCACTATGTTGCCCAGTCTGGACTTGAATTCCTGGGCTCAAGTGATCCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATGCAGGCACACACTACATGAGCTCTGGCCATCCCTCTGACGTTGCTGTAGCCACGCTGGCCTCATTGTCCTGGAACATTCCAGGGATACTCCCCTGACTTAGGGCTTCTGTGCTAGCTCTCGCTGCCTGATGTCTTCTGTGGATATCCTCGAGGCCCTGGATATCCCTCCCCCAGGCTCGGCTCAGACACCACAACTCCAAAGTGGCCCAGTGCCCTCCCTGAGCGTCGGTCCAGAACGGCACTCTCGTCCCTCCTGTGACGCTCTGCTTGGCACTTTGGGAGGCTGAGGCGGGAGGATTGCTTGAGCCCAGGAGTTCTAGACCAGCCTGGGCAACATAGTGAGACCCCGTCTCTACAAAAAATACAAAAATTGGCTGTGCGCGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCGAAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCTGGGTGTAGTGGTGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGACGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCTGAGATTGTGCTACTGCACTCCAGCCTGGGTGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCGATGAGTGAGACTCCATCTCAAAAACAAAAACAAACAAACAAAAATTACAAAAATTAGCCAGGCATGATGGCACATGCCTGTAGTCTCAGCTACTTGGGAGGCTGAGGTGAGAGGATGGCTTGAACCCTGGAGGTTGAGGCTGCAGTGAGCCGTGATCACACCACTGCCCTCCAGCCTGGGTGACAGGGCGAGACCGTGTCTCAAAGAAAACCATTAAAATAAAATAAAAAATAAAATTTCTGCGATGCACACGACAGCCTCCACAGCAAATCAGCATCCAGTTGCTCATGCCAGTGATGCCCCAATGGAGAACAATCCACGCTCTGAGAGGAGGTGGGGTCTGGTTTGGTTCACTGCCACCTCCCAGTGTCATGTAGAACAGTGCCAAGCCGCGGAAGGCACGGGTCCAAGAGGCAGCGCTGCAGGGTCATGGGGGAGCACAGTATTGCGATGAAGATCCCAGCTCCCTTGCAGGCTGCCTGGGTTTGTGTCTGGGCTCTGAAGAATGCGGGCCATAATTAGTTATTGATTGATTACAGATCAACATGGGCAGCCTTCCCTTGCCCAAGGGAAGGGAACTCGGCCTTCCCTTGCAGAACGTGGGGTGTTGAGATCTGTCTCCTGTTACCCAGGGGCTCGCTTCCTGTTGCTGTTACTTGGGTCCATAGGCAACCCCTGGGGTGCTGACAGGTGTTCTGTGATAAAGGCGACTAGAGGGGGATGTGCAATTAGGGAAACAGGGGCCTCTTCCCCCTAGGGCCTTTTGGTAGCTCTCCTGTGGCCGTGAGCCCTGGCCCCAGACAGGAGGGGCTCAGTGGCTGCACTTTCCATCTTGCCTGGCCACGGAAGCTGTCTAGGCAACTGTCCGAGTACACGTGGGTGGAGAGGGGCCTGCGTGGGGCAGTACTGTCTCTGGGGAGACCTAGCCTCTCTCTGGGGTCTTCTCTTCCTGCAGGTGGAAAGTCATGTCCCTTGGCCCATGTTCGGCCAGCTGTGGCCTTGGCACTGCTAGACGCTCGGTGGCCTGTGTGCAGCTCGACCAAGGCCAGGACGTGGAGGTGGACGAGGCGGCCTGTGCGGCGCTGGTGCGGCCCGAGGCCAGTGTCCCCTGTCTCATTGCCGACTGCACCTACCGCTGGCATGTTGGCACCTGGATGGAGGTGAGCACAGCGGGCACTCGGAATCCCTATGGGGCTGGGGTGGGCATCAGCTGTGGCTCCTCATGTGTGAGGGAGTCTAGGAGGCATTGGCTCATCGTGTCCCCTGAAAGGAAGGAGAGAGCTGCGCCCGTTGGTGAGGGGGCACCTAGAGGCAGAGAGACAGAGGGCCTAGAGACCTGCGGGCAGCTAGGACTTAAGAGGCCCTTAGGTTTGGGGACGCTGGAAGATGAATGGCAGGCCACTCAGCTCTACACAGATGAGGGAATGCCAGCTGTGCCACGCACCTGGCAAGGCAGGACAGACAAGGGTAAATGGGGTTCAGGCTGCCCCCTGGAGGGGCTCGCTCATGGTGTGGAGGGGGCATAGGGGCACAGCAGACAGAGATGAGCCGCAGCCCCGCAGACCTGCTTGCTCTAAGGCTTGGAGGGACAGAGAGGCCGTGAGGGTGACAGGGACCCAGACTTGAATTATGGCTCCTCCCACCTATATGACCCATGCAAGGTGCCCTCTCTGAGCCTCAGTTTTCTCATCTGTGGAATGGAGACACTTAACTGCCTCCCAGCTTGTACAAGGATTATATTGGATCACTCCTGGCCTGTGGTTACCACTGTCCTTGTCACCTTCTGGCAGGGTCAGCTGTGACTCCTCCTCCCCTCTCTTGGCAGTGCTCTGTTTCCTGTGGGGATGGCATCCAGCGCCGGCGTGACACCTGCCTCGGACCCCAGGCCCAGGCGCCTGTGCCAGCTGATTTCTGCCAGCACTTGCCCAAGCCGGTGACTGTGCGTGGCTGCTGGGCTGGGCCCTGTGTGGGACAGGGTACGCCCAGCCTGGTGCCCCACGAAGAAGCCGCTGCTCCAGGACGGACCACAGCCACCCCTGCTGGTGCCTCCCTGGAGTGGTCCCAGGCCCGGGGCCTGCTCTTCTCCCCGGCTCCCCAGCCTCGGCGGCTCCTGCCCGGGCCCCAGGAAAACTCAGTGCAGTCCAGTTATGTCCTGTCCTCCTTCCTGTCAGGCAGCTGCTGCAGGAGGGGTGGGCAAAGGCATCTTCCTCTGGGAAGGACTGGCACAAGCACTTGGTCCCTGGGTTGTGTGCCTGGGAGGCCGGGATCAGGGCTGGCCCTCTTTCTCCCTGGCAAAGCAAAACCTCCCTTTTACTACTATCAAGGGGAAGTAACTTGAAGGTAGGAACCCAGCTTGTGAGCCCCCTAGCCTCTGGGCTGCTCTGCATGTGCCCCCTCTTGCTGGATCATCTGGTAGCAGCCCTGTGCCCTGAGGGTGATGCTCTGACCTATGCAGCCCCCCTCCCTGTCCTGAGAAGGCTTCCAGCTGGGCCTTGGAGGACAGGGTCCACCCCTACCTCCTGGTCTCCTTCCTCAGCTTGGAAGCCCCGGAGCCTGCCCTGCTGGGAATCGGGGAAGCACTGCTTACCTGTCTCCTGCTCCCTTTTCAGGTGCCTGTGGCAGGCAGCACCTTGAGCCAACAGGAACCATTGACATGCGAGGCCCAGGGCAGGCAGACTGTGCAGTGGCCATTGGGCGGCCCCTCGGGGAGGTGGTGACCCTCCGCGTCCTTGAGAGTTCTCTCAACTGCAGTGCGGGTATGTCTAGGGCCATGCAAGCGATGCTGCCAGTTATGGGCCCTGCCAGGAGCCAGCACGACGCTGCATGCCCCATTCCTGGCAGGAGCCCATGTGCATTCCCACCTGTAGTTTGCATCCCATCTCATGACTGGGGAGTGATGATCTGCATTTTACAGATGAGGAAACTGAGGCTAGGAGAGATTAAGTGATGTGCCCAGTTACTTAGAGTCACATAGCCAGCAGTGGGAGAGGTGGGACTTGAACTCGGCTCAGTCTACCCTGGAGCCACTCCTCTGCTGACCAGGCGTGGGAGTGCTGGACCCTCACTGCCCTGCCGCTTCCTAGGGGACATGTTGCTGCTTTGGGGCCGGCTCACCTGGAGGAAGATGTGCAGGAAGCTGTTGGACATGACTTTCA | CCACATCACATTTAGAGATGATCTGGGATTTTATGGGAATTGCAGGGTTTTTCACACTGCACGCTGCCTGCATGGTGCTTAAACTTCACCTCCCACACCTAGCACAGCCTACCAGGTAGCCCTGTTCTCTACAGACCACCTCTTGGGCCACTGAGCCTCCCCTCACTTTTTTTTAGAGATGGGGTCTCACTATGTTGCCCAGTCTGGACTTGAATTCCTGGGCTCAAGTGATCCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATGCAGGCACACACTACATGAGCTCTGGCCATCCCTCTGACGTTGCTGTAGCCACGCTGGCCTCATTGTCCTGGAACATTCCAGGGATACTCCCCTGACTTAGGGCTTCTGTGCTAGCTCTCGCTGCCTGATGTCTTCTGTGGATATCCTCGAGGCCCTGGATATCCCTCCCCCAGGCTCGGCTCAGACACCACAACTCCAAAGTGGCCCAGTGCCCTCCCTGAGCGTCGGTCCAGAACGGCACTCTCGTCCCTCCTGTGACGCTCTGCTTGGCACTTTGGGAGGCTGAGGCGGGAGGATTGCTTGAGCCCAGGAGTTCTAGACCAGCCTGGGCAACATAGTGAGACCCCGTCTCTACAAAAAATACAAAAATTGGCTGTGCGCGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCGAAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCTGGGTGTAGTGGTGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGACGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCTGAGATTGTGCTACTGCACTCCAGCCTGGGTGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCGATGAGTGAGACTCCATCTCAAAAACAAAAACAAACAAACAAAAATTACAAAAATTAGCCAGGCATGATGGCACATGCCTGTAGTCTCAGCTACTTGGGAGGCTGAGGTGAGAGGATGGCTTGAACCCTGGAGGTTGAGGCTGCAGTGAGCCGTGATCACACCACTGCCCTCCAGCCTGGGTGACAGGGCGAGACCGTGTCTCAAAGAAAACCATTAAAATAAAATAAAAAATAAAATTTCTGCGATGCACACGACAGCCTCCACAGCAAATCAGCATCCAGTTGCTCATGCCAGTGATGCCCCAATGGAGAACAATCCACGCTCTGAGAGGAGGTGGGGTCTGGTTTGGTTCACTGCCACCTCCCAGTGTCATGTAGAACAGTGCCAAGCCGCGGAAGGCACGGGTCCAAGAGGCAGCGCTGCAGGGTCATGGGGGAGCACAGTATTGCGATGAAGATCCCAGCTCCCTTGCAGGCTGCCTGGGTTTGTGTCTGGGCTCTGAAGAATGCGGGCCATAATTAGTTATTGATTGATTACAGATCAACATGGGCAGCCTTCCCTTGCCCAAGGGAAGGGAACTCGGCCTTCCCTTGCAGAACGTGGGGTGTTGAGATCTGTCTCCTGTTACCCAGGGGCTCGCTTCCTGTTGCTGTTACTTGGGTCCATAGGCAACCCCTGGGGTGCTGACAGGTGTTCTGTGATAAAGGCGACTAGAGGGGGATGTGCAATTAGGGAAACAGGGGCCTCTTCCCCCTAGGGCCTTTTGGTAGCTCTCCTGTGGCCGTGAGCCCTGGCCCCAGACAGGAGGGGCTCAGTGGCTGCACTTTCCATCTTGCCTGGCCACGGAAGCTGTCTAGGCAACTGTCCGAGTACACGTGGGTGGAGAGGGGCCTGCGTGGGGCAGTACTGTCTCTGGGGAGACCTAGCCTCTCTCTGGGGTCTTCTCTTCCTGCAGGTGGAAAGTCATGTCCCTTGGCCCATGTTCGGCCAGCTGTGGCCTTGGCACTGCTAGACGCTCGGTGGCCTGTGTGCAGCTCGACCAAGGCCAGGACGTGGAGGTGGACGAGGCGGCCTGTGCGGCGCTGGTGCGGCCCGAGGCCAGTGTCCCGTCTCATTGCCGACTGCACCTACCGCTGGCATGTTGGCACCTGGATGGAGGTGAGCACAGCGGGCACTCGGAATCCCTATGGGGCTGGGGTGGGCATCAGCTGTGGCTCCTCATGTGTGAGGGAGTCTAGGAGGCATTGGCTCATCGTGTCCCCTGAAAGGAAGGAGAGAGCTGCGCCCGTTGGTGAGGGGGCACCTAGAGGCAGAGAGACAGAGGGCCTAGAGACCTGCGGGCAGCTAGGACTTAAGAGGCCCTTAGGTTTGGGGACGCTGGAAGATGAATGGCAGGCCACTCAGCTCTACACAGATGAGGGAATGCCAGCTGTGCCACGCACCTGGCAAGGCAGGACAGACAAGGGTAAATGGGGTTCAGGCTGCCCCCTGGAGGGGCTCGCTCATGGTGTGGAGGGGGCATAGGGGCACAGCAGACAGAGATGAGCCGCAGCCCCGCAGACCTGCTTGCTCTAAGGCTTGGAGGGACAGAGAGGCCGTGAGGGTGACAGGGACCCAGACTTGAATTATGGCTCCTCCCACCTATATGACCCATGCAAGGTGCCCTCTCTGAGCCTCAGTTTTCTCATCTGTGGAATGGAGACACTTAACTGCCTCCCAGCTTGTACAAGGATTATATTGGATCACTCCTGGCCTGTGGTTACCACTGTCCTTGTCACCTTCTGGCAGGGTCAGCTGTGACTCCTCCTCCCCTCTCTTGGCAGTGCTCTGTTTCCTGTGGGGATGGCATCCAGCGCCGGCGTGACACCTGCCTCGGACCCCAGGCCCAGGCGCCTGTGCCAGCTGATTTCTGCCAGCACTTGCCCAAGCCGGTGACTGTGCGTGGCTGCTGGGCTGGGCCCTGTGTGGGACAGGGTACGCCCAGCCTGGTGCCCCACGAAGAAGCCGCTGCTCCAGGACGGACCACAGCCACCCCTGCTGGTGCCTCCCTGGAGTGGTCCCAGGCCCGGGGCCTGCTCTTCTCCCCGGCTCCCCAGCCTCGGCGGCTCCTGCCCGGGCCCCAGGAAAACTCAGTGCAGTCCAGTTATGTCCTGTCCTCCTTCCTGTCAGGCAGCTGCTGCAGGAGGGGTGGGCAAAGGCATCTTCCTCTGGGAAGGACTGGCACAAGCACTTGGTCCCTGGGTTGTGTGCCTGGGAGGCCGGGATCAGGGCTGGCCCTCTTTCTCCCTGGCAAAGCAAAACCTCCCTTTTACTACTATCAAGGGGAAGTAACTTGAAGGTAGGAACCCAGCTTGTGAGCCCCCTAGCCTCTGGGCTGCTCTGCATGTGCCCCCTCTTGCTGGATCATCTGGTAGCAGCCCTGTGCCCTGAGGGTGATGCTCTGACCTATGCAGCCCCCCTCCCTGTCCTGAGAAGGCTTCCAGCTGGGCCTTGGAGGACAGGGTCCACCCCTACCTCCTGGTCTCCTTCCTCAGCTTGGAAGCCCCGGAGCCTGCCCTGCTGGGAATCGGGGAAGCACTGCTTACCTGTCTCCTGCTCCCTTTTCAGGTGCCTGTGGCAGGCAGCACCTTGAGCCAACAGGAACCATTGACATGCGAGGCCCAGGGCAGGCAGACTGTGCAGTGGCCATTGGGCGGCCCCTCGGGGAGGTGGTGACCCTCCGCGTCCTTGAGAGTTCTCTCAACTGCAGTGCGGGTATGTCTAGGGCCATGCAAGCGATGCTGCCAGTTATGGGCCCTGCCAGGAGCCAGCACGACGCTGCATGCCCCATTCCTGGCAGGAGCCCATGTGCATTCCCACCTGTAGTTTGCATCCCATCTCATGACTGGGGAGTGATGATCTGCATTTTACAGATGAGGAAACTGAGGCTAGGAGAGATTAAGTGATGTGCCCAGTTACTTAGAGTCACATAGCCAGCAGTGGGAGAGGTGGGACTTGAACTCGGCTCAGTCTACCCTGGAGCCACTCCTCTGCTGACCAGGCGTGGGAGTGCTGGACCCTCACTGCCCTGCCGCTTCCTAGGGGACATGTTGCTGCTTTGGGGCCGGCTCACCTGGAGGAAGATGTGCAGGAAGCTGTTGGACATGACTTTCANN | pathogenic | 153,576 |
Variant in ADAMTS13 (ADAM metallopeptidase with thrombospondin type 1 motif 13), chromosome 9, position 133455593—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Upshaw-Schulman_syndrome'] | TCAGCTACTTGGGAGGCTGAGGTGAGAGGATGGCTTGAACCCTGGAGGTTGAGGCTGCAGTGAGCCGTGATCACACCACTGCCCTCCAGCCTGGGTGACAGGGCGAGACCGTGTCTCAAAGAAAACCATTAAAATAAAATAAAAAATAAAATTTCTGCGATGCACACGACAGCCTCCACAGCAAATCAGCATCCAGTTGCTCATGCCAGTGATGCCCCAATGGAGAACAATCCACGCTCTGAGAGGAGGTGGGGTCTGGTTTGGTTCACTGCCACCTCCCAGTGTCATGTAGAACAGTGCCAAGCCGCGGAAGGCACGGGTCCAAGAGGCAGCGCTGCAGGGTCATGGGGGAGCACAGTATTGCGATGAAGATCCCAGCTCCCTTGCAGGCTGCCTGGGTTTGTGTCTGGGCTCTGAAGAATGCGGGCCATAATTAGTTATTGATTGATTACAGATCAACATGGGCAGCCTTCCCTTGCCCAAGGGAAGGGAACTCGGCCTTCCCTTGCAGAACGTGGGGTGTTGAGATCTGTCTCCTGTTACCCAGGGGCTCGCTTCCTGTTGCTGTTACTTGGGTCCATAGGCAACCCCTGGGGTGCTGACAGGTGTTCTGTGATAAAGGCGACTAGAGGGGGATGTGCAATTAGGGAAACAGGGGCCTCTTCCCCCTAGGGCCTTTTGGTAGCTCTCCTGTGGCCGTGAGCCCTGGCCCCAGACAGGAGGGGCTCAGTGGCTGCACTTTCCATCTTGCCTGGCCACGGAAGCTGTCTAGGCAACTGTCCGAGTACACGTGGGTGGAGAGGGGCCTGCGTGGGGCAGTACTGTCTCTGGGGAGACCTAGCCTCTCTCTGGGGTCTTCTCTTCCTGCAGGTGGAAAGTCATGTCCCTTGGCCCATGTTCGGCCAGCTGTGGCCTTGGCACTGCTAGACGCTCGGTGGCCTGTGTGCAGCTCGACCAAGGCCAGGACGTGGAGGTGGACGAGGCGGCCTGTGCGGCGCTGGTGCGGCCCGAGGCCAGTGTCCCCTGTCTCATTGCCGACTGCACCTACCGCTGGCATGTTGGCACCTGGATGGAGGTGAGCACAGCGGGCACTCGGAATCCCTATGGGGCTGGGGTGGGCATCAGCTGTGGCTCCTCATGTGTGAGGGAGTCTAGGAGGCATTGGCTCATCGTGTCCCCTGAAAGGAAGGAGAGAGCTGCGCCCGTTGGTGAGGGGGCACCTAGAGGCAGAGAGACAGAGGGCCTAGAGACCTGCGGGCAGCTAGGACTTAAGAGGCCCTTAGGTTTGGGGACGCTGGAAGATGAATGGCAGGCCACTCAGCTCTACACAGATGAGGGAATGCCAGCTGTGCCACGCACCTGGCAAGGCAGGACAGACAAGGGTAAATGGGGTTCAGGCTGCCCCCTGGAGGGGCTCGCTCATGGTGTGGAGGGGGCATAGGGGCACAGCAGACAGAGATGAGCCGCAGCCCCGCAGACCTGCTTGCTCTAAGGCTTGGAGGGACAGAGAGGCCGTGAGGGTGACAGGGACCCAGACTTGAATTATGGCTCCTCCCACCTATATGACCCATGCAAGGTGCCCTCTCTGAGCCTCAGTTTTCTCATCTGTGGAATGGAGACACTTAACTGCCTCCCAGCTTGTACAAGGATTATATTGGATCACTCCTGGCCTGTGGTTACCACTGTCCTTGTCACCTTCTGGCAGGGTCAGCTGTGACTCCTCCTCCCCTCTCTTGGCAGTGCTCTGTTTCCTGTGGGGATGGCATCCAGCGCCGGCGTGACACCTGCCTCGGACCCCAGGCCCAGGCGCCTGTGCCAGCTGATTTCTGCCAGCACTTGCCCAAGCCGGTGACTGTGCGTGGCTGCTGGGCTGGGCCCTGTGTGGGACAGGGTACGCCCAGCCTGGTGCCCCACGAAGAAGCCGCTGCTCCAGGACGGACCACAGCCACCCCTGCTGGTGCCTCCCTGGAGTGGTCCCAGGCCCGGGGCCTGCTCTTCTCCCCGGCTCCCCAGCCTCGGCGGCTCCTGCCCGGGCCCCAGGAAAACTCAGTGCAGTCCAGTTATGTCCTGTCCTCCTTCCTGTCAGGCAGCTGCTGCAGGAGGGGTGGGCAAAGGCATCTTCCTCTGGGAAGGACTGGCACAAGCACTTGGTCCCTGGGTTGTGTGCCTGGGAGGCCGGGATCAGGGCTGGCCCTCTTTCTCCCTGGCAAAGCAAAACCTCCCTTTTACTACTATCAAGGGGAAGTAACTTGAAGGTAGGAACCCAGCTTGTGAGCCCCCTAGCCTCTGGGCTGCTCTGCATGTGCCCCCTCTTGCTGGATCATCTGGTAGCAGCCCTGTGCCCTGAGGGTGATGCTCTGACCTATGCAGCCCCCCTCCCTGTCCTGAGAAGGCTTCCAGCTGGGCCTTGGAGGACAGGGTCCACCCCTACCTCCTGGTCTCCTTCCTCAGCTTGGAAGCCCCGGAGCCTGCCCTGCTGGGAATCGGGGAAGCACTGCTTACCTGTCTCCTGCTCCCTTTTCAGGTGCCTGTGGCAGGCAGCACCTTGAGCCAACAGGAACCATTGACATGCGAGGCCCAGGGCAGGCAGACTGTGCAGTGGCCATTGGGCGGCCCCTCGGGGAGGTGGTGACCCTCCGCGTCCTTGAGAGTTCTCTCAACTGCAGTGCGGGTATGTCTAGGGCCATGCAAGCGATGCTGCCAGTTATGGGCCCTGCCAGGAGCCAGCACGACGCTGCATGCCCCATTCCTGGCAGGAGCCCATGTGCATTCCCACCTGTAGTTTGCATCCCATCTCATGACTGGGGAGTGATGATCTGCATTTTACAGATGAGGAAACTGAGGCTAGGAGAGATTAAGTGATGTGCCCAGTTACTTAGAGTCACATAGCCAGCAGTGGGAGAGGTGGGACTTGAACTCGGCTCAGTCTACCCTGGAGCCACTCCTCTGCTGACCAGGCGTGGGAGTGCTGGACCCTCACTGCCCTGCCGCTTCCTAGGGGACATGTTGCTGCTTTGGGGCCGGCTCACCTGGAGGAAGATGTGCAGGAAGCTGTTGGACATGACTTTCAGCTCCAAGACCAACACGCTGGTGGTGAGGCAGCGCTGCGGGCGGCCAGGAGGTGGGGTGCTGCTGCGGTATGGGAGCCAGCTTGCTCCTGAAACCTTCTACAGAGGTATGGCCAGGCCTTCTCCACCTCCCTTGGGTGCTCCAGTCCTGGCAGGGAGGCTGGGTGGGTGCTGCTGGGGATGGGGCCAGTCCCAGTGGGGCAGTGGGAAGATACGGAGGGAACTGACTGAGATGGAAGGAACTGGGGTTGGCCAGTGTCAGTCTGCACGTGCCAGGGAGGGGTCACAGGATGAATGCTATATCCCTCCTTTTTGGGACCGTGCAGCAAGATGGACGGATGTGGGACATGGTCCACATCCTCAGTCAGTCCCTCAGGCCTCTGCCCCACACCCACCTGCCCCGCCCCCACCCCTCCAGCCTTTCAAGGGCTTTTAGGGTTTTGTGGAAGCCACTGTCCCTCAGCCCTGTTTCAGTGCACTGGTGTAAGCAGACATGCTTGTACATGCATGTGCACCCACAAGCACACCTCAGGCAGAGGATGCCACCTCAGGGACTCCAGCCTTGCCCGTGGCCCCCTCGATATCCTCTGATAGCCCTCTCGGTTGTCCTGGGGGGCTTGCCCTCTCCCAACAGCCCGAGCTGGCCGAAGTTGGCTTCCCTAGCTGGTTCCAGAGGTTCCTCGGCTCCCCCAGGTGTCTGGGGCTTAGTGGCAACAGGGGCTTAGCCTCTGCAGAGACCTAGTGCGCCGCCTCCTTGCCCCAGACCTGCCCGGGCAGAGAGCCGTGTATGTGTCCCAGTGCACAGGCGCTGCTGGGCCCTGCCAAAAGGCCACAAGCCCACTGTCACCGTTCACATTGCTTCTCGCTTCCCGGCCCAGCCCCGCCCACACAGGCATCTGCCTTGAAAGAGGTGCAGGAGGTACAGGCAGGTGGGGGCTCCAGTGAGCTCTGAGGAACAGCAGTGGCCGCCATGGGTGGAGCCTATCTTTGTTGCCAGTTTCAGTGTTAAACACTCTTGCACGTGTGAC | TCAGCTACTTGGGAGGCTGAGGTGAGAGGATGGCTTGAACCCTGGAGGTTGAGGCTGCAGTGAGCCGTGATCACACCACTGCCCTCCAGCCTGGGTGACAGGGCGAGACCGTGTCTCAAAGAAAACCATTAAAATAAAATAAAAAATAAAATTTCTGCGATGCACACGACAGCCTCCACAGCAAATCAGCATCCAGTTGCTCATGCCAGTGATGCCCCAATGGAGAACAATCCACGCTCTGAGAGGAGGTGGGGTCTGGTTTGGTTCACTGCCACCTCCCAGTGTCATGTAGAACAGTGCCAAGCCGCGGAAGGCACGGGTCCAAGAGGCAGCGCTGCAGGGTCATGGGGGAGCACAGTATTGCGATGAAGATCCCAGCTCCCTTGCAGGCTGCCTGGGTTTGTGTCTGGGCTCTGAAGAATGCGGGCCATAATTAGTTATTGATTGATTACAGATCAACATGGGCAGCCTTCCCTTGCCCAAGGGAAGGGAACTCGGCCTTCCCTTGCAGAACGTGGGGTGTTGAGATCTGTCTCCTGTTACCCAGGGGCTCGCTTCCTGTTGCTGTTACTTGGGTCCATAGGCAACCCCTGGGGTGCTGACAGGTGTTCTGTGATAAAGGCGACTAGAGGGGGATGTGCAATTAGGGAAACAGGGGCCTCTTCCCCCTAGGGCCTTTTGGTAGCTCTCCTGTGGCCGTGAGCCCTGGCCCCAGACAGGAGGGGCTCAGTGGCTGCACTTTCCATCTTGCCTGGCCACGGAAGCTGTCTAGGCAACTGTCCGAGTACACGTGGGTGGAGAGGGGCCTGCGTGGGGCAGTACTGTCTCTGGGGAGACCTAGCCTCTCTCTGGGGTCTTCTCTTCCTGCAGGTGGAAAGTCATGTCCCTTGGCCCATGTTCGGCCAGCTGTGGCCTTGGCACTGCTAGACGCTCGGTGGCCTGTGTGCAGCTCGACCAAGGCCAGGACGTGGAGGTGGACGAGGCGGCCTGTGCGGCGCTGGTGCGGCCCGAGGCCAGTGTCCCCTGTCTCATTGCCGACTGCACCTACCGCTGGCATGTTGGCACCTGGATGGAGGTGAGCACAGCGGGCACTCGGAATCCCTATGGGGCTGGGGTGGGCATCAGCTGTGGCTCCTCATGTGTGAGGGAGTCTAGGAGGCATTGGCTCATCGTGTCCCCTGAAAGGAAGGAGAGAGCTGCGCCCGTTGGTGAGGGGGCACCTAGAGGCAGAGAGACAGAGGGCCTAGAGACCTGCGGGCAGCTAGGACTTAAGAGGCCCTTAGGTTTGGGGACGCTGGAAGATGAATGGCAGGCCACTCAGCTCTACACAGATGAGGGAATGCCAGCTGTGCCACGCACCTGGCAAGGCAGGACAGACAAGGGTAAATGGGGTTCAGGCTGCCCCCTGGAGGGGCTCGCTCATGGTGTGGAGGGGGCATAGGGGCACAGCAGACAGAGATGAGCCGCAGCCCCGCAGACCTGCTTGCTCTAAGGCTTGGAGGGACAGAGAGGCCGTGAGGGTGACAGGGACCCAGACTTGAATTATGGCTCCTCCCACCTATATGACCCATGCAAGGTGCCCTCTCTGAGCCTCAGTTTTCTCATCTGTGGAATGGAGACACTTAACTGCCTCCCAGCTTGTACAAGGATTATATTGGATCACTCCTGGCCTGTGGTTACCACTGTCCTTGTCACCTTCTGGCAGGGTCAGCTGTGACTCCTCCTCCCCTCTCTTGGCAGTGCTCTGTTTCCTGTGGGGATGGCATCCAGCGCCGGCGTGACACCTGCCTCGGACCCCAGGCCCAGGCGCCTGTGCCAGCTGATTTCTGCCAGCACTTGCCCAAGCCGGTGACTGTGCGTGGCTGCTGGGCTGGGCCCTGTGTGGGACAGGGTACGCCCAGCCTGGTGCCCCACGAAGAAGCCGCTGCTCCAGGACGGACCACAGCCACCCCTGCTGGTGCCTCCCTGGAGTGGTCCCAGGCCCGGGGCCTGCTCTTCTCCCCGGCTCCCCAGCCTCGGCGGCTCCTGCCCGGGCCCCAGGAAAACTCAGTCCTGTCCTCCTTCCTGTCAGGCAGCTGCTGCAGGAGGGGTGGGCAAAGGCATCTTCCTCTGGGAAGGACTGGCACAAGCACTTGGTCCCTGGGTTGTGTGCCTGGGAGGCCGGGATCAGGGCTGGCCCTCTTTCTCCCTGGCAAAGCAAAACCTCCCTTTTACTACTATCAAGGGGAAGTAACTTGAAGGTAGGAACCCAGCTTGTGAGCCCCCTAGCCTCTGGGCTGCTCTGCATGTGCCCCCTCTTGCTGGATCATCTGGTAGCAGCCCTGTGCCCTGAGGGTGATGCTCTGACCTATGCAGCCCCCCTCCCTGTCCTGAGAAGGCTTCCAGCTGGGCCTTGGAGGACAGGGTCCACCCCTACCTCCTGGTCTCCTTCCTCAGCTTGGAAGCCCCGGAGCCTGCCCTGCTGGGAATCGGGGAAGCACTGCTTACCTGTCTCCTGCTCCCTTTTCAGGTGCCTGTGGCAGGCAGCACCTTGAGCCAACAGGAACCATTGACATGCGAGGCCCAGGGCAGGCAGACTGTGCAGTGGCCATTGGGCGGCCCCTCGGGGAGGTGGTGACCCTCCGCGTCCTTGAGAGTTCTCTCAACTGCAGTGCGGGTATGTCTAGGGCCATGCAAGCGATGCTGCCAGTTATGGGCCCTGCCAGGAGCCAGCACGACGCTGCATGCCCCATTCCTGGCAGGAGCCCATGTGCATTCCCACCTGTAGTTTGCATCCCATCTCATGACTGGGGAGTGATGATCTGCATTTTACAGATGAGGAAACTGAGGCTAGGAGAGATTAAGTGATGTGCCCAGTTACTTAGAGTCACATAGCCAGCAGTGGGAGAGGTGGGACTTGAACTCGGCTCAGTCTACCCTGGAGCCACTCCTCTGCTGACCAGGCGTGGGAGTGCTGGACCCTCACTGCCCTGCCGCTTCCTAGGGGACATGTTGCTGCTTTGGGGCCGGCTCACCTGGAGGAAGATGTGCAGGAAGCTGTTGGACATGACTTTCAGCTCCAAGACCAACACGCTGGTGGTGAGGCAGCGCTGCGGGCGGCCAGGAGGTGGGGTGCTGCTGCGGTATGGGAGCCAGCTTGCTCCTGAAACCTTCTACAGAGGTATGGCCAGGCCTTCTCCACCTCCCTTGGGTGCTCCAGTCCTGGCAGGGAGGCTGGGTGGGTGCTGCTGGGGATGGGGCCAGTCCCAGTGGGGCAGTGGGAAGATACGGAGGGAACTGACTGAGATGGAAGGAACTGGGGTTGGCCAGTGTCAGTCTGCACGTGCCAGGGAGGGGTCACAGGATGAATGCTATATCCCTCCTTTTTGGGACCGTGCAGCAAGATGGACGGATGTGGGACATGGTCCACATCCTCAGTCAGTCCCTCAGGCCTCTGCCCCACACCCACCTGCCCCGCCCCCACCCCTCCAGCCTTTCAAGGGCTTTTAGGGTTTTGTGGAAGCCACTGTCCCTCAGCCCTGTTTCAGTGCACTGGTGTAAGCAGACATGCTTGTACATGCATGTGCACCCACAAGCACACCTCAGGCAGAGGATGCCACCTCAGGGACTCCAGCCTTGCCCGTGGCCCCCTCGATATCCTCTGATAGCCCTCTCGGTTGTCCTGGGGGGCTTGCCCTCTCCCAACAGCCCGAGCTGGCCGAAGTTGGCTTCCCTAGCTGGTTCCAGAGGTTCCTCGGCTCCCCCAGGTGTCTGGGGCTTAGTGGCAACAGGGGCTTAGCCTCTGCAGAGACCTAGTGCGCCGCCTCCTTGCCCCAGACCTGCCCGGGCAGAGAGCCGTGTATGTGTCCCAGTGCACAGGCGCTGCTGGGCCCTGCCAAAAGGCCACAAGCCCACTGTCACCGTTCACATTGCTTCTCGCTTCCCGGCCCAGCCCCGCCCACACAGGCATCTGCCTTGAAAGAGGTGCAGGAGGTACAGGCAGGTGGGGGCTCCAGTGAGCTCTGAGGAACAGCAGTGGCCGCCATGGGTGGAGCCTATCTTTGTTGCCAGTTTCAGTGTTAAACACTCTTGCACGTGTGACNNNNNNNNNNNNNNN | pathogenic | 153,584 |
Chromosome 9, position 133459038, gene ADAMTS13 (ADAM metallopeptidase with thrombospondin type 1 motif 13): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Upshaw-Schulman_syndrome'] | CCTCTGCCCCACACCCACCTGCCCCGCCCCCACCCCTCCAGCCTTTCAAGGGCTTTTAGGGTTTTGTGGAAGCCACTGTCCCTCAGCCCTGTTTCAGTGCACTGGTGTAAGCAGACATGCTTGTACATGCATGTGCACCCACAAGCACACCTCAGGCAGAGGATGCCACCTCAGGGACTCCAGCCTTGCCCGTGGCCCCCTCGATATCCTCTGATAGCCCTCTCGGTTGTCCTGGGGGGCTTGCCCTCTCCCAACAGCCCGAGCTGGCCGAAGTTGGCTTCCCTAGCTGGTTCCAGAGGTTCCTCGGCTCCCCCAGGTGTCTGGGGCTTAGTGGCAACAGGGGCTTAGCCTCTGCAGAGACCTAGTGCGCCGCCTCCTTGCCCCAGACCTGCCCGGGCAGAGAGCCGTGTATGTGTCCCAGTGCACAGGCGCTGCTGGGCCCTGCCAAAAGGCCACAAGCCCACTGTCACCGTTCACATTGCTTCTCGCTTCCCGGCCCAGCCCCGCCCACACAGGCATCTGCCTTGAAAGAGGTGCAGGAGGTACAGGCAGGTGGGGGCTCCAGTGAGCTCTGAGGAACAGCAGTGGCCGCCATGGGTGGAGCCTATCTTTGTTGCCAGTTTCAGTGTTAAACACTCTTGCACGTGTGACATCATTGAGTCCTAAAGACCACTCTGCTCAGTGCATGCCATTGTTTCCTTCAGTTACAGAGGAGGGAACCAGAGCCCAGAACATTTAGCCTTTGCCTAAAGTCACTGGGCCAGGAAGTGGTAGAGGTGGGGTTCAGCAGGATTTGCCTGGGAACCCCAATATTGACCACAGTGCCATGCTGCCCTGCACGGCTCCCTGGCTGTGAGTTGTCCTGGCCTCTGGCACCACCGGTCTGTCTGGGTTCCTATGTCCCTATGTCCCACCTGCAGAATGTGACATGCAGCTCTTTGGGCCCTGGGGTGAAATCGTGAGCCCCTCGCTGAGTCCAGCCACGAGTAATGCAGGGGGCTGCCGGCTCTTCATTAATGTGGCTCCGCACGCACGGATTGCCATCCATGCCCTGGCCACCAACATGGGCGCTGGGACCGAGGGAGCCAATGCCAGCTACATCTTGGTGAGGCCCAGCATGGGGACTTGTGCTGTGATTCTGGACAGCTTTCCCTAGGGCGTGCAGGGCTAGGGGACCCCCTTCAGTTTATTTCAGACTAAAACCCTCAAAATCATTAGTGAAAGAATGGGAGAAGATAGCTTCCTCCACATATTCACCAAGAAATGTTTTTTGAGCTACCTACAAGAGTGAAATAGTGGCTCACAACTGTAATCCCAGCACTTTGGGAGGCCCAGGAGGGCAGATCACTCAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGATGAAACCTTGTCTCTACTAAAAATAGAAAAAGTAGCCAGGCATGGTGGCGTGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACAAGAATCACTTGAACCCGGGAGGTGGAGGTTGCACTAAGCCCAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAGCGAAATGGTAAAGAATGGTAAAGACCTTTCTGATGTAGACTGACAGCTAACCCAAGACTGAAGCATAATTTTACAGTCTGATATAACTTGGACAGAATAGCACCCTGCACCCTCCCCGAGGTTTCAAGTGTCCTGGGAGAACTGTGTTCTGCAGGGTATCAGCTTCCCCAGAGGAGGCAGCCTGGCCCCGCTCTGGCACCCTGACTGTGTGTCCTTGGGGAAGTGATGTAACGTCCCTGGACCTCGGTTTTCTGGGTAGAGTAATGGCGTATTCCTAGTAGGGCTTTGTAAGCATTAAATGTGATCCGGAATCTGTGAGCCCTTGCACACGAAGGCTTCCGTGAGTGCTAATTATTACTTGTGGCCGGTCCTTCTGGGCTGCCCCTTTTCTCTCAGATCCGGGACACCCACAGCTTGAGGACCACAGCGTTCCATGGGCAGCAGGTGCTCTACTGGGAGTCAGAGAGCAGCCAGGCTGAGATGGAGTTCAGCGAGGGCTTCCTGAAGGCTCAGGCCAGCCTGCGGGGCCAGTACTGGACCCTCCAATCATGGGTACCGGAGATGCAGGACCCTCAGTCCTGGAAGGGAAAGGAAGGAACCTGAGGGTCATTGAACATTTGTTCCGTGTCTGGCCAGCCCTGGAGGGTTGACCCCTGGTCTCAGTGCTTTCCAATTCGAACTTTTTCCAATCTTAGGTATCTACTTTAGAGTCTTCTCCAATGTCCAAAAGGCTAGGGGGTTGGAGGTGGGGACTCTGGAAAAGCAGCCCCCATTTCCTCGGGTACCAATAAATAAAACATGCAGGCTGACCGGCGTTTTTTTCTTATAAGCTGTCCAGACCTGGCTTGAAAACCCATCCCATGGCAAGGCAGGGATTCGCTGGCCGCGGTTGGCTCTATCTTGATCTGAGCAAGCCGCTGGACGTCCCTAGTTATCTTCTTCCTATCCAGGAAGAAAATCCAATCAGGATTCCACTCCGAGGATGGCGCATTAGCCAGCTCCCTGCGAAGCCCCACCCGTGTGTCCTGGTGTGAGGCTCTGACCGCTAAGGTGTCTGCGCGCCTCCAGGCCCCGCCCCCTATGCTAATAAGCGCCCGCCTCCTTTGGGAGCAAGTCGCCGCAAACTGCGAGCCCCCGCCCCCTACGCTAATGACGCCCGCCCCCCTCGGGCACACCTCTCCGATGCCTGCGAGCCCCGCCCCGTATGCTAACGAGCTCCCCACCCCCAGCTCCTCGCCGCAGCCTGCGGGTCCCGCCCCCTACAATAATGAGCACCTACCTCCCCTCAAACGCCCCTAGTCGCGGCATGAGGGTCCCGCTCACTATGTTAATGAGCACCCGCCTCCCTTCGGGCGCGCCTCGCCGCAGCCTGAAAGCCCCGCCCCCTATGCTAATATGCTCCCTCTCCCACAAGGCAGCGCGCCGGCTCGGACGCGGCCGGCTACCGAGCCCTTTGTGAGGGCTGTGAGCTGCGCCTGACGGTGGCACCATGAGCAGCTCAGGTGGGGCGCCCGGGGCGTCCGCCAGCTCTGCGCCGCCCGCGCAGGAAGAGGGCATGACGTGGTGGTACCGCTGGCTGTGTCGCCTGTCTGGGGTGCTGGGGGCAGTCTGTGAGTATCCAGTCGGGGAGAGGGGCCGGCCCCGCCGCGCATGCGCTCCTCGCCCTGCCCTGCCCCGCCCCGCCCCGGCGGCCCCAGGGGAAAGGACCCGCTGGGGGTCGGGGGTCTGCCGGGCGCCTCCCGGGGCGGAGGAATGGCGGGGCCGCCGGGAGCCGGCGTCCTGGGGTTGCCATGGTTACCCGCTCGGGCCTGGGCGCCTTGGTACCCCGGGCTGGGCTGGGCTGGCGCTTCTGGGAACATTCCCGGAGGGACCAGAAACCCCAGGGCGGGGGGGCGGCGGGGGCGGGGGTGGGGCACCGGCCTGGGGCACGTGACTGAGCCCTCCCCCCGCTCCCCAGGGGCTTTTGTGAGACTTTCTCGGTGATGCTCACGGGGCGCATGCCCACCTGGCCCGTACTAAAGCGTCAACTGTTGACTTGGGCGTAGGTGACGGCAGCCACATTGCTAACCTTTGGGCAAGGATTGTTTGTAAGGGAGGCGGGTGCACGGCTGGCTAGATTTCTGGCAGGAAGCCACTGGGCGGAAGTTTGCTGAGGGTCAGGTGGTGTCAGGGCACAGGTGGCCCCTGGGGCCGCGGGGCAGTGAGCTGAGGGCCCGGCCTCTCCCTGGGTCCTCTGTCCGCTCTCATATCTCCCCCGTTGCTGCTGCCTTAGCCGCCTGTCACCGGCCTTCCTCCCCTTCTCCGCACGCATCCCAGTCACAGACCCTGACCTTAGGCTGCCAGGGAAGCTAGGCTCTTAAGCACAGCCAGAAAAGGACAAAGAGGGAGGCAGGTCAGCTCCAGGAGTGAATGGAAGCCGTACAGCTGGCCTTCCAGGGAAAGACAAGTCTGTCTGAGTGATACCCTTTCCTTTCCTGTCTGCCCTCAATCTTGTGGATTACTGGAGTG | CCTCTGCCCCACACCCACCTGCCCCGCCCCCACCCCTCCAGCCTTTCAAGGGCTTTTAGGGTTTTGTGGAAGCCACTGTCCCTCAGCCCTGTTTCAGTGCACTGGTGTAAGCAGACATGCTTGTACATGCATGTGCACCCACAAGCACACCTCAGGCAGAGGATGCCACCTCAGGGACTCCAGCCTTGCCCGTGGCCCCCTCGATATCCTCTGATAGCCCTCTCGGTTGTCCTGGGGGGCTTGCCCTCTCCCAACAGCCCGAGCTGGCCGAAGTTGGCTTCCCTAGCTGGTTCCAGAGGTTCCTCGGCTCCCCCAGGTGTCTGGGGCTTAGTGGCAACAGGGGCTTAGCCTCTGCAGAGACCTAGTGCGCCGCCTCCTTGCCCCAGACCTGCCCGGGCAGAGAGCCGTGTATGTGTCCCAGTGCACAGGCGCTGCTGGGCCCTGCCAAAAGGCCACAAGCCCACTGTCACCGTTCACATTGCTTCTCGCTTCCCGGCCCAGCCCCGCCCACACAGGCATCTGCCTTGAAAGAGGTGCAGGAGGTACAGGCAGGTGGGGGCTCCAGTGAGCTCTGAGGAACAGCAGTGGCCGCCATGGGTGGAGCCTATCTTTGTTGCCAGTTTCAGTGTTAAACACTCTTGCACGTGTGACATCATTGAGTCCTAAAGACCACTCTGCTCAGTGCATGCCATTGTTTCCTTCAGTTACAGAGGAGGGAACCAGAGCCCAGAACATTTAGCCTTTGCCTAAAGTCACTGGGCCAGGAAGTGGTAGAGGTGGGGTTCAGCAGGATTTGCCTGGGAACCCCAATATTGACCACAGTGCCATGCTGCCCTGCACGGCTCCCTGGCTGTGAGTTGTCCTGGCCTCTGGCACCACCGGTCTGTCTGGGTTCCTATGTCCCTATGTCCCACCTGCAGAATGTGACATGCAGCTCTTTGGGCCCTGGGGTGAAATCGTGAGCCCCTCGCTGAGTCCAGCCACGAGTAATGCAGGGGGCTGCCGGCTCTTCATTAATGTGGCTCCGCACGCACGGATTGCCATCCATGCCCTGGCCACCAACATGGGCGCTGGGACCGAGGGAGCCAATGCCAGCTACATCTTGGTGAGGCCCAGCATGGGGACTTGTGCTGTGATTCTGGACAGCTTTCCCTAGGGCGTGCAGGGCTAGGGGACCCCCTTCAGTTTATTTCAGACTAAAACCCTCAAAATCATTAGTGAAAGAATGGGAGAAGATAGCTTCCTCCACATATTCACCAAGAAATGTTTTTTGAGCTACCTACAAGAGTGAAATAGTGGCTCACAACTGTAATCCCAGCACTTTGGGAGGCCCAGGAGGGCAGATCACTCAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGATGAAACCTTGTCTCTACTAAAAATAGAAAAAGTAGCCAGGCATGGTGGCGTGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACAAGAATCACTTGAACCCGGGAGGTGGAGGTTGCACTAAGCCCAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAGCGAAATGGTAAAGAATGGTAAAGACCTTTCTGATGTAGACTGACAGCTAACCCAAGACTGAAGCATAATTTTACAGTCTGATATAACTTGGACAGAATAGCACCCTGCACCCTCCCCGAGGTTTCAAGTGTCCTGGGAGAACTGTGTTCTGCAGGGTATCAGCTTCCCCAGAGGAGGCAGCCTGGCCCCGCTCTGGCACCCTGACTGTGTGTCCTTGGGGAAGTGATGTAACGTCCCTGGACCTCGGTTTTCTGGGTAGAGTAATGGCGTATTCCTAGTAGGGCTTTGTAAGCATTAAATGTGATCCGGAATCTGTGAGCCCTTGCACACGAAGGCTTCCGTGAGTGCTAATTATTACTTGTGGCCGGTCCTTCTGGGCTGCCCCTTTTCTCTCAGATCCGGGACACCCACAGCTTGAGGACCACAGCGTTCCATGGGCAGCAGGTGCTCTACTGGGAGTCAAGAGAGCAGCCAGGCTGAGATGGAGTTCAGCGAGGGCTTCCTGAAGGCTCAGGCCAGCCTGCGGGGCCAGTACTGGACCCTCCAATCATGGGTACCGGAGATGCAGGACCCTCAGTCCTGGAAGGGAAAGGAAGGAACCTGAGGGTCATTGAACATTTGTTCCGTGTCTGGCCAGCCCTGGAGGGTTGACCCCTGGTCTCAGTGCTTTCCAATTCGAACTTTTTCCAATCTTAGGTATCTACTTTAGAGTCTTCTCCAATGTCCAAAAGGCTAGGGGGTTGGAGGTGGGGACTCTGGAAAAGCAGCCCCCATTTCCTCGGGTACCAATAAATAAAACATGCAGGCTGACCGGCGTTTTTTTCTTATAAGCTGTCCAGACCTGGCTTGAAAACCCATCCCATGGCAAGGCAGGGATTCGCTGGCCGCGGTTGGCTCTATCTTGATCTGAGCAAGCCGCTGGACGTCCCTAGTTATCTTCTTCCTATCCAGGAAGAAAATCCAATCAGGATTCCACTCCGAGGATGGCGCATTAGCCAGCTCCCTGCGAAGCCCCACCCGTGTGTCCTGGTGTGAGGCTCTGACCGCTAAGGTGTCTGCGCGCCTCCAGGCCCCGCCCCCTATGCTAATAAGCGCCCGCCTCCTTTGGGAGCAAGTCGCCGCAAACTGCGAGCCCCCGCCCCCTACGCTAATGACGCCCGCCCCCCTCGGGCACACCTCTCCGATGCCTGCGAGCCCCGCCCCGTATGCTAACGAGCTCCCCACCCCCAGCTCCTCGCCGCAGCCTGCGGGTCCCGCCCCCTACAATAATGAGCACCTACCTCCCCTCAAACGCCCCTAGTCGCGGCATGAGGGTCCCGCTCACTATGTTAATGAGCACCCGCCTCCCTTCGGGCGCGCCTCGCCGCAGCCTGAAAGCCCCGCCCCCTATGCTAATATGCTCCCTCTCCCACAAGGCAGCGCGCCGGCTCGGACGCGGCCGGCTACCGAGCCCTTTGTGAGGGCTGTGAGCTGCGCCTGACGGTGGCACCATGAGCAGCTCAGGTGGGGCGCCCGGGGCGTCCGCCAGCTCTGCGCCGCCCGCGCAGGAAGAGGGCATGACGTGGTGGTACCGCTGGCTGTGTCGCCTGTCTGGGGTGCTGGGGGCAGTCTGTGAGTATCCAGTCGGGGAGAGGGGCCGGCCCCGCCGCGCATGCGCTCCTCGCCCTGCCCTGCCCCGCCCCGCCCCGGCGGCCCCAGGGGAAAGGACCCGCTGGGGGTCGGGGGTCTGCCGGGCGCCTCCCGGGGCGGAGGAATGGCGGGGCCGCCGGGAGCCGGCGTCCTGGGGTTGCCATGGTTACCCGCTCGGGCCTGGGCGCCTTGGTACCCCGGGCTGGGCTGGGCTGGCGCTTCTGGGAACATTCCCGGAGGGACCAGAAACCCCAGGGCGGGGGGGCGGCGGGGGCGGGGGTGGGGCACCGGCCTGGGGCACGTGACTGAGCCCTCCCCCCGCTCCCCAGGGGCTTTTGTGAGACTTTCTCGGTGATGCTCACGGGGCGCATGCCCACCTGGCCCGTACTAAAGCGTCAACTGTTGACTTGGGCGTAGGTGACGGCAGCCACATTGCTAACCTTTGGGCAAGGATTGTTTGTAAGGGAGGCGGGTGCACGGCTGGCTAGATTTCTGGCAGGAAGCCACTGGGCGGAAGTTTGCTGAGGGTCAGGTGGTGTCAGGGCACAGGTGGCCCCTGGGGCCGCGGGGCAGTGAGCTGAGGGCCCGGCCTCTCCCTGGGTCCTCTGTCCGCTCTCATATCTCCCCCGTTGCTGCTGCCTTAGCCGCCTGTCACCGGCCTTCCTCCCCTTCTCCGCACGCATCCCAGTCACAGACCCTGACCTTAGGCTGCCAGGGAAGCTAGGCTCTTAAGCACAGCCAGAAAAGGACAAAGAGGGAGGCAGGTCAGCTCCAGGAGTGAATGGAAGCCGTACAGCTGGCCTTCCAGGGAAAGACAAGTCTGTCTGAGTGATACCCTTTCCTTTCCTGTCTGCCCTCAATCTTGTGGATTACTGGAGT | pathogenic | 153,594 |
Mutation found at chromosome 9 position 133554475, gene ADAMTSL2 (ADAMTS like 2): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Geleophysic_dysplasia_1', 'Lethal_short-limb_skeletal_dysplasia,_Al_Gazali_type'] | CAGAGGACAAAGGTCAAGTGCTTGGAGTGGTCCAGATGCCTTTATAGTGTATTGTAATTGGGAGCGGGAGCGTAAGTGTAGCCCTGGGTCAAGACTGTAAACACATACGGTTGTCCACCCCAGGGGAATGAAATAGTTTCTGGTCCACCTTCTTGACAGGGATAGAAAAGAACATATTTTCCAGATCAGTGGCCACCTAGGATCAACCTGAGGCCATGCTGATCTGCTCTAGGAGAGAGACCACAGTGATCACATCCTGGCAGTGGAGGCCACCACTTGGTGGAGGGTGCAGCACCCATCCAGACTCGGATGGCAGATCCCTGGGGTCTGTCTTGTTATTGTGGGGGCTGAACTATCGAGTTAAATGCGGGATGTGATGGGCTGGCTACATCTGCATCCTTTAGGTCAGCCCCTACCTGCTCTATGCTTCTAAGTGCCATCCTAGTAGCCTGGTAGCATTTCTCCCCACGTTCTTACCAAGGCGCTAACTTCTTTGTCATGAGAGGATGCACCCAGCAGTTCCTGAGGGCTGGTCCTGCCGTTCCATTGGTGTATAGCCCCTTCTCCCAGGACTGCCCTGACTGGGCGAGAATGTGACTTAATCTAAGCTATTGGTCTGGTGGCTGGGAGAGGAGGGCAGGCCAGCTCCTGTGGGAGGCCCGCGTGGCCGTGAAGGCAGAGGTCTCTGTGTCGTCTTCAGGCAGGGGTGGCGCTGGCTTTAACAGGGACAAATGGGACAGGCCCATTTTTGAGGCCCTGAAGGCTTGGGACGTTTGAGATGTGAAGTTTTTCAAGTGTATTGACGCAGATCCCCACACCCCGAGTCTCAAGGTCCCCCTCTTCTGGTTGGTCTCTGTCCTGGGCATAGCAGGCCTAGCAGAGTTGGGAAGAGCACGCTCTCTGCTCCTTGGAGGTGCCTCTGCCTCTCCCGCCTTCCAGCTGCAGGACACGAGGGTGTCTTTCTCTGCGGCTGCGCAGACCCTCACCCTCACCTTTCCATGCCATCCTTCCGTTCTTGGGGTCCTTTACTTCCACAAACCTCTGCAAGTTTTTAACCCCTACCCCTGCCCCAGCCAACTCTCAAACACTTGAGCTATTGCACCAATAGTGCATTTCCTTTCGCTGGCATTCTCTCCCAGTTCCCTAGTGGTGAACCTTTTCACAACCGCTTCACTGTCTTCCGGGGGTCTCTGTGCTCCAGGCATTTCTACGTGGGCCCTCGTTGCCTCTGCCAGCCCGTGACCCTCTCCGACATCCTATTTTAAAATCCTAGGCCTGCCTGCTCCTGACACCAGCTGGTTTTGGTTGGAATCTCTGGAAAAAGCAACTCCTGGAGAGAGGGGCAGCAGGGGTCTGTGGAGGGAGAAGCCGGGCTGCCCCAGGGTCTTGACAGGGGCCTCAGCCCATCCCACAGGGAGCCCTGGAGCGGGGATGAGCCTTCACTGTTGTCTCGAATTGAGGCAGAGCCTGGGTCTTTGTACTCCCACCTGGCCTGGGCAGTGGGGCTCTGGGTTGGAGGGTGGTGGGAGAGGGACACCGTGATTACTTAGAATTTCTGGCACATGGTGAGAAGAAAATGCAGGCCAGGTTTTGTTGGCTTCATTACTTAAATTCTCTGCATACAGCATGCAGAGACGAGGGCCCACCTGGGCGTGCCTGGAAGACTGTGACGCCTTGTTGCCTGTACCCAGGGTGGGCCACTCCCCCCACCACACATCCCCAGCCCCCGCCCTGTTCCCAGGCTCTTTGACTTGGATGCCCCTGGGGCAGGAGCACTGCGTTGGGCTGGGCTAGTCAGTGTCATTCCCTGAGGGGGCTCAACTGCCAGTCACAGCAGGGAACGCACCCTGCAGCTCTGTGGGAAGGGGATTGGTGGGGAAGGGGCTGGACAGAGTAAGGAGGGGCTGGGGACCCACTTCTCTTTCCCTAGGTGTGGAACCAGAACGGCAAAAGCCCCTCCATCACCTTCGAGTACACGCTGCTGCAGCCGCCACACGAGAGCCGCCCCCAGCCCATCTACTATGGCTTCTCCGAGAGCGCTGAGAGCCAGGGCCTGGACGGGGCCGGGCTGATGGGCTTCGTCCCGCACAACGGCTCCCTCTACGGCCAGGCCTCCTCAGAGCGGCTGGGCCTGGACAACCGGCTGTTCGGCCACCCGGGCCTGGACATGGAGCTGGGCCCCAGCCAGGGCCAGGAGACCAACGAGGTGTGCGAGCAGGCCGGCGGCGGGGCCTGCGAGGGGCCCCCCAGGGGCAAGGGCTTCCGAGGTAACCAGGAGGAGGGAGGCATGAGGGTGGGGCCCGGGAGGCAGCCCAGGGAAGGGGGCCTTGGGGAAGGGGTCTCAGACCCTTTGCAGACCTGCAGAGGAGGTTCCTAAGAGCTGCCAGCTACCTGCAGATGTCCTCTGGGCAGGCACAGGGTTGAGGACTTGGGATAGGTCCTTCTGTCCATGCATTCTTTGAGGTAGATGTGGTTATCCCCATTTGATGGATGGGGAGACTGAGGCTTAGAAAGAGGAAGTGGCTTGGCCAAGTCATGCAGTCCACCGTGGAGGAGCTGGGAGTCAAATGCAGGATGGTCTGATCTCTCGCTCACCCCATCGCTCACTCAACGAGCACCTGGTCTCACCTCAGCTCGGACAGCACAGGGAGCAAAAGCTTCGGGGGCCCCAGGCGCCCCTTGGCTGTGACCGTGTCACTCCAGCCTCTGCCTTTGTCCTCATAGGCCTCCTCCTCTGTGCCGGTGTCTCTGTCGGTCCCCTTCTGATAAGGATATTTCTCAGTCCACGATAATTTCATCTCAAGATTCTTAACTAATTATATCTACAATGACCCTATTTCCAAAGAAGATCACACTCTGAGGTTCCGGGGGGGGCCATGAATTTTGGGGGGATGCTATTCAATCCACTACAGAAGTCGATTGAATTCCCATCAGCAAGAGATGATCCAGGCAGGTCTCATGCCTCCGTTTTGCCCGAATTACGTCCTCTAGTTAGGCAGAAGCCCTCCTTCTGGGAGCTTCTTGGTTCAGCTTGGTGTTTCTGGCCCCCTCGTCCAGGTCCCCTCCCCAGGGCAGCCCTTGCCCCCAGGGCTCGGATGTGCCCACGGTTGAGCCACCTGTCTCCTCTCCAGACCGCAACGTCACGGGGACTCCTCTCACCGGGGACAAGGATGACGAAGAGGTTGACACCCACTTCGCCTCCCAGGAGTTCTTCTCGGCTAACGCCATCTCTGACCAGCTGCTGGGCGCAGGCTCTGACTTGAAGGACTTCACCCTCAATGAGACTGTGAACAGCATCTTTGCACAGGGCGCCCCAAGGAGCTCCCTGGCCGAGAGCTTCTTCGTGGATTATGAGGAGAACGAGGGGGCTGGCCCTTACCTGCTCAACGGGTCCTACCTGGAGCTGAGCAGCGACAGGGTTGCCAACAGCTCCTCCGAGGCCCCATTCCCCAACGTTAGCACCAGCCTGCTCACCTCGGCCGGGAACAGGACTCACAAGGCCAGGTAGGAGGCACTTTCCTGAGCCCTGTCCAGGGCCCTCAGGGGGCAGGATGGGGCCGAGGCCAGGTAGAAAGTGAGGCCCCACTGGGGGGGTCTGGCCAGAAGGGCTGAGGTCCTAGAGGTAGAGGAGAGAGGGCCCCTTCTTCCCGGGGTTCTCCACTCGCTGCCCCGTGGATCTGAGCACAAAGTCAGAGGCCTGGGCTGCAGTGAGTTTTCCCCAAAAGTTATGTCCATGGATTAGGATCCAGGGCTGAGCCCCTATGTGTGCAGCTGATGGGGGGAAGGGAGGCAGGAAGCTAACAGCTCTGAGCATGCCTTGTGAGCCAGGGACAGAGCTCAGCATTTTATATGCATGGAAACATGTCATCGTCACAACCGCCCTTAGTGGTGGGGTTGCTATTTGCTATTGTGGGCTCAGAGAGAGCTAGCGGTGTATTCGAGGTCACAGAGCCTGAGAACCTGGGACCCCTTAGTTTTAAGCCTGGACAGTCATGGCACACACGCCTGTAGGAGGAGGCGGAGCTCCAGGCAGCTCCCCAAGTGCAGAGTGGCTCAGTCCCAAGCCTCAGCAAGGGCTGGAGAGGATCTAGTGGAT | CAGAGGACAAAGGTCAAGTGCTTGGAGTGGTCCAGATGCCTTTATAGTGTATTGTAATTGGGAGCGGGAGCGTAAGTGTAGCCCTGGGTCAAGACTGTAAACACATACGGTTGTCCACCCCAGGGGAATGAAATAGTTTCTGGTCCACCTTCTTGACAGGGATAGAAAAGAACATATTTTCCAGATCAGTGGCCACCTAGGATCAACCTGAGGCCATGCTGATCTGCTCTAGGAGAGAGACCACAGTGATCACATCCTGGCAGTGGAGGCCACCACTTGGTGGAGGGTGCAGCACCCATCCAGACTCGGATGGCAGATCCCTGGGGTCTGTCTTGTTATTGTGGGGGCTGAACTATCGAGTTAAATGCGGGATGTGATGGGCTGGCTACATCTGCATCCTTTAGGTCAGCCCCTACCTGCTCTATGCTTCTAAGTGCCATCCTAGTAGCCTGGTAGCATTTCTCCCCACGTTCTTACCAAGGCGCTAACTTCTTTGTCATGAGAGGATGCACCCAGCAGTTCCTGAGGGCTGGTCCTGCCGTTCCATTGGTGTATAGCCCCTTCTCCCAGGACTGCCCTGACTGGGCGAGAATGTGACTTAATCTAAGCTATTGGTCTGGTGGCTGGGAGAGGAGGGCAGGCCAGCTCCTGTGGGAGGCCCGCGTGGCCGTGAAGGCAGAGGTCTCTGTGTCGTCTTCAGGCAGGGGTGGCGCTGGCTTTAACAGGGACAAATGGGACAGGCCCATTTTTGAGGCCCTGAAGGCTTGGGACGTTTGAGATGTGAAGTTTTTCAAGTGTATTGACGCAGATCCCCACACCCCGAGTCTCAAGGTCCCCCTCTTCTGGTTGGTCTCTGTCCTGGGCATAGCAGGCCTAGCAGAGTTGGGAAGAGCACGCTCTCTGCTCCTTGGAGGTGCCTCTGCCTCTCCCGCCTTCCAGCTGCAGGACACGAGGGTGTCTTTCTCTGCGGCTGCGCAGACCCTCACCCTCACCTTTCCATGCCATCCTTCCGTTCTTGGGGTCCTTTACTTCCACAAACCTCTGCAAGTTTTTAACCCCTACCCCTGCCCCAGCCAACTCTCAAACACTTGAGCTATTGCACCAATAGTGCATTTCCTTTCGCTGGCATTCTCTCCCAGTTCCCTAGTGGTGAACCTTTTCACAACCGCTTCACTGTCTTCCGGGGGTCTCTGTGCTCCAGGCATTTCTACGTGGGCCCTCGTTGCCTCTGCCAGCCCGTGACCCTCTCCGACATCCTATTTTAAAATCCTAGGCCTGCCTGCTCCTGACACCAGCTGGTTTTGGTTGGAATCTCTGGAAAAAGCAACTCCTGGAGAGAGGGGCAGCAGGGGTCTGTGGAGGGAGAAGCCGGGCTGCCCCAGGGTCTTGACAGGGGCCTCAGCCCATCCCACAGGGAGCCCTGGAGCGGGGATGAGCCTTCACTGTTGTCTCGAATTGAGGCAGAGCCTGGGTCTTTGTACTCCCACCTGGCCTGGGCAGTGGGGCTCTGGGTTGGAGGGTGGTGGGAGAGGGACACCGTGATTACTTAGAATTTCTGGCACATGGTGAGAAGAAAATGCAGGCCAGGTTTTGTTGGCTTCATTACTTAAATTCTCTGCATACAGCATGCAGAGACGAGGGCCCACCTGGGCGTGCCTGGAAGACTGTGACGCCTTGTTGCCTGTACCCAGGGTGGGCCACTCCCCCCACCACACATCCCCAGCCCCCGCCCTGTTCCCAGGCTCTTTGACTTGGATGCCCCTGGGGCAGGAGCACTGCGTTGGGCTGGGCTAGTCAGTGTCATTCCCTGAGGGGGCTCAACTGCCAGTCACAGCAGGGAACGCACCCTGCAGCTCTGTGGGAAGGGGATTGGTGGGGAAGGGGCTGGACAGAGTAAGGAGGGGCTGGGGACCCACTTCTCTTTCCCTAGGTGTGGAACCAGAACGGCAAAAGCCCCTCCATCACCTTCGAGTACACGCTGCTGCAGCCGCCACACGAGAGCCGCCCCCAGCCCATCTACTATGGCTTCTCCGAGAGCGCTGAGAGCCAGGCCTGGACGGGGCCGGGCTGATGGGCTTCGTCCCGCACAACGGCTCCCTCTACGGCCAGGCCTCCTCAGAGCGGCTGGGCCTGGACAACCGGCTGTTCGGCCACCCGGGCCTGGACATGGAGCTGGGCCCCAGCCAGGGCCAGGAGACCAACGAGGTGTGCGAGCAGGCCGGCGGCGGGGCCTGCGAGGGGCCCCCCAGGGGCAAGGGCTTCCGAGGTAACCAGGAGGAGGGAGGCATGAGGGTGGGGCCCGGGAGGCAGCCCAGGGAAGGGGGCCTTGGGGAAGGGGTCTCAGACCCTTTGCAGACCTGCAGAGGAGGTTCCTAAGAGCTGCCAGCTACCTGCAGATGTCCTCTGGGCAGGCACAGGGTTGAGGACTTGGGATAGGTCCTTCTGTCCATGCATTCTTTGAGGTAGATGTGGTTATCCCCATTTGATGGATGGGGAGACTGAGGCTTAGAAAGAGGAAGTGGCTTGGCCAAGTCATGCAGTCCACCGTGGAGGAGCTGGGAGTCAAATGCAGGATGGTCTGATCTCTCGCTCACCCCATCGCTCACTCAACGAGCACCTGGTCTCACCTCAGCTCGGACAGCACAGGGAGCAAAAGCTTCGGGGGCCCCAGGCGCCCCTTGGCTGTGACCGTGTCACTCCAGCCTCTGCCTTTGTCCTCATAGGCCTCCTCCTCTGTGCCGGTGTCTCTGTCGGTCCCCTTCTGATAAGGATATTTCTCAGTCCACGATAATTTCATCTCAAGATTCTTAACTAATTATATCTACAATGACCCTATTTCCAAAGAAGATCACACTCTGAGGTTCCGGGGGGGGCCATGAATTTTGGGGGGATGCTATTCAATCCACTACAGAAGTCGATTGAATTCCCATCAGCAAGAGATGATCCAGGCAGGTCTCATGCCTCCGTTTTGCCCGAATTACGTCCTCTAGTTAGGCAGAAGCCCTCCTTCTGGGAGCTTCTTGGTTCAGCTTGGTGTTTCTGGCCCCCTCGTCCAGGTCCCCTCCCCAGGGCAGCCCTTGCCCCCAGGGCTCGGATGTGCCCACGGTTGAGCCACCTGTCTCCTCTCCAGACCGCAACGTCACGGGGACTCCTCTCACCGGGGACAAGGATGACGAAGAGGTTGACACCCACTTCGCCTCCCAGGAGTTCTTCTCGGCTAACGCCATCTCTGACCAGCTGCTGGGCGCAGGCTCTGACTTGAAGGACTTCACCCTCAATGAGACTGTGAACAGCATCTTTGCACAGGGCGCCCCAAGGAGCTCCCTGGCCGAGAGCTTCTTCGTGGATTATGAGGAGAACGAGGGGGCTGGCCCTTACCTGCTCAACGGGTCCTACCTGGAGCTGAGCAGCGACAGGGTTGCCAACAGCTCCTCCGAGGCCCCATTCCCCAACGTTAGCACCAGCCTGCTCACCTCGGCCGGGAACAGGACTCACAAGGCCAGGTAGGAGGCACTTTCCTGAGCCCTGTCCAGGGCCCTCAGGGGGCAGGATGGGGCCGAGGCCAGGTAGAAAGTGAGGCCCCACTGGGGGGGTCTGGCCAGAAGGGCTGAGGTCCTAGAGGTAGAGGAGAGAGGGCCCCTTCTTCCCGGGGTTCTCCACTCGCTGCCCCGTGGATCTGAGCACAAAGTCAGAGGCCTGGGCTGCAGTGAGTTTTCCCCAAAAGTTATGTCCATGGATTAGGATCCAGGGCTGAGCCCCTATGTGTGCAGCTGATGGGGGGAAGGGAGGCAGGAAGCTAACAGCTCTGAGCATGCCTTGTGAGCCAGGGACAGAGCTCAGCATTTTATATGCATGGAAACATGTCATCGTCACAACCGCCCTTAGTGGTGGGGTTGCTATTTGCTATTGTGGGCTCAGAGAGAGCTAGCGGTGTATTCGAGGTCACAGAGCCTGAGAACCTGGGACCCCTTAGTTTTAAGCCTGGACAGTCATGGCACACACGCCTGTAGGAGGAGGCGGAGCTCCAGGCAGCTCCCCAAGTGCAGAGTGGCTCAGTCCCAAGCCTCAGCAAGGGCTGGAGAGGATCTAGTGGATN | pathogenic | 153,638 |
Is the chromosome 9, position 133575149 variant in ADAMTSL2 (ADAMTS like 2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | TGGGTCCCAGGGCCAGGGCCTCCCACCCCACCCATCTCAGAGGACAGAGGGCTCAGGTCCCAGACGTGCCTGGATGATGTGGGGTCACCCACATTGGGGGGAGTGTGAGGGAGCCACCGCCTGTGGGATCTTGGCAGGAGGACAGCAGGGTGACTGGGGCCAGCAGATGTCTCTGGTGTTCTGGGGAGCTCAGCGGGGTTTTCCAAGGGGAACATCTGGACGGGGAGCCACTGGAGGGGGTGGTGACTTCGCGAGATGCATTTGATCGGCCCACAACAAACAGTCTGCACCACAGACCCAGGAAAGCTGGGGCCAGAGGACCCTCAGGGAGATGGGAGAGGAGGGACCACCCCTCACTGTGCATCTGGGGAGACTGAGGCAGCCCTGCGTGGGGAGAGAATCAGATCCTCCTGACGGCCAGCTAGTGCCTGGACCCCCTGGGAAATGAGAGAGGAGGGACCACCCCTCACTGTGGATCTGGGGAGACTGAGGCAGCCCTGGGTGGGAGACAATCAGAGCCTCCCGAATGCCAGCCAGTGCCCTTTTGTCGGCATCTCAACTCAGCCTTGGAGCCGCAGGTCTAGTTTCAAATGGGCTTCCACGGGTCCTGTGTCAGTTGGGACTCATGGCCGCCTGGGAAGGGTGGGGTGGGGAAGGGGGAGTGTGCAGGTTCCCCGCCCCCTGCCCAGGCCCCTGCCCCATCAGGAGGCTTTCCCCATGCCTTCTGTCTCTCCCACACCAGTGCACCAAGACCTGCGGGGTGGGCGTGAGGATGCGAGACGTCAAGTGCTACCAGGGGACCGACATCGTCCGTGGTTGCGATCCGTTGGTGAAGCCCGTTGGCAGACAGGCCTGTGATCTGCAGCCCTGCCCCACGGAGCCCCCAGGTGAGGCGCGGGGAGGCCGAGGGTGGCTCTGGGAATTCCCAGGGGAGGCGAGGACAGAGTCAGGGCCTGAGGGGTGAGCAGACATTGCTCACCTTGATGGCGAGCCTGGGAACCAGCTTGAGAGACCAAGCTGTGCAGGGAGTGGGGGCTCCCTCCCGGCATGGCCGAGCCCCACTGGGAGGGGAGAGAGGGAAGGGGAATGGGGGAGGCCTGACTGGGGCTCCATGGCCCCAGGGAGCCATGCTGAGACCTGTACTTTGGGAAAAGGGTCAGCTTCAGATGGCAGGGCCACTGTGGGGCCAAGACCTGAATCCAGGATGACTCAGCTGGAGCGGCCAGGGGCTGGCACACAGGGGGCAGGGAGGGGAGCAGCTGAAGCAGGGCCTGGGCACCTGGAGGAGGGACAGGGTGCCAGGTGCAGGGCACGTGATGAGTTATGCTTTGGATACATTGAGTGGTGGACGGGGGGCCCCTGTGGAACCCTTGGGGATGCTTAGGCCTCTGGGTGTGACATCTGTAGCTCCTTTAGGCATCACTCCTCTTGGGACACAGATCAAATCACCTGGCATGATCTGGGACAGCGACATCTTGGGGACAGAGATGGGCCAGGAAGGAGGGGGCAGAGAGCTAGAGATGGAGACCCACCACGGGGTGGGAGGCCCACTGCCCCTGGAAAACGGCACGTGGGGGTCCCTGGGGTTTTCGCCCCTTGGCCACCTCCTGAAACTGCCCTGCTTCGCTCTGTGTTCCTTCTCCAGATGACAGCTGCCAGGACCAGCCAGGCACCAACTGTGCCCTGGCCATCAAAGTGAACCTCTGCGGGCACTGGTACTACAGCAAGGCGTGCTGCCGCTCCTGCAGGCCCCCCCACTCCTAGGCCCGGCAGCTGCAGCCCCTTCCAGATGAAGACCAAGCGCCCCTCCTGGGGCTGCTGCAGCTTCTGGGGCCTCCACAGACCCCCCTCCTGCGGGGCACGCTGGCCTAAGAGACGTGGCACTGAGCCTCGGCTGTCGAGAGGGGACTTCCCACGGCCCGTGGACCTTTGTGCTCCTGGGGCAGAGCCTCCGGCACCCAGTGGCCTCCCCCAGACAGAGCCACCCCTGCCGTGGGAACCTGTCCGTGTTCCTGCGTGGATCCTGTGTTTGTGGCTCCCACTCCCCAGCCCCCCAGCAGCCCCCAGCCGAGGGGCCCAGGGCCCACAGCCAGCGGTGGAGGTGTCTTGCTCCGGGCCCGTAGCCCACGCCCTCTCTGGGTGGCAGGGCCTTCTGAAGGAAACTTGCAGGCGAGCCCAACGTGGTGGGGGGCCTTCCTCCCTCAGAGGCCATGGGGTGAGAGGGGCTCAGGCAGCCAAGGAGGCCCAGGCGTGCTCCCTCTTATGGAGCCCCTCCCATGGAGCTCTCTTCCCGCCGCACTTTCTACCCCGGGCAGAGGCGCTTGCCCACGGGACGTTTGGGGATGGACCTCGGCCCCCGCCCCTGCAGTCAGCGTCAGTGCTCATCTACGTTAATAAAGTGGTCCTATTTATGGCGGCATCATGGGGTCTCAGTTGCCTCTGGCTGGAGAAGTGGGTGGCCTGGGGATTGGAGGGCCCAGGCCTGGCTGTGTGGGGTCCCTCCAGCTCACTGAGGCCTCAGGGGCAGGGGTGGGCCGTGGGGGACCACAGCACCTGCTCTGAGGAGAAAGACAGACGCAGATAAAAGGCAACGAGAGGCGTGGGGAGTGTGCAGGGAGGGCGTCTGGGGACACTGGGACTCAGGCGCTGGAGTAGGAGTGGACATCTCGAGCCCATCAGCAACTGGTACAGGACCTGTGGGGGCAGGGGGCAGGGACCTTGGCTAAGGTGTAGGGCACCCACCTCCAAGTGCGTGGGCAAGAACAGAGGAGATGAGGCAGGTGTTGGGGGCGCGGGGCTGGGCCCACCTTGAGCCTCAGGAAACAGCACCGTCACTGCCGCTCCTGGAGCTCATGGAGGGCTTCCTGACCCGGACTTGTGGGTGCAGGAACGCAGGGGCTTCTGGGGAGGGGCTGCTTGGTTGACCCAGCAGCAGGAGTGGCTTTTCCCAGACAAGAGGGCAGCAAAGAGCACTCAGGAGAGGAAAAGTGACACAGCTGGAGGACGCTGCATGGGAGGAAGGACGGGGCTGTACCGCCCGGAGAGGCCCCAGGAGGTGTCTCTGAGCACGCAGGCAGTCGGGAGGTGAGTGGCTGCCGGGCTGCTTCCTCGATGTGAGGCCAGCTTGTTCTCAGACTGGGAGCCACAGCAGCGTCCATCACAGCTTTAGGGGGGCTTCTGAAGGACTTGGGGCTCTGGGGAAACTAAGGCAGCACCCCCCCCCCCAGTGTGTTCTTGCCTCTGAGTGTGCCTGCACGCGTGTGCACTGAGGCGCTGCAATCAGGATGGTCCTTTCAATCCCTAAAGTCCAGGAATTAAGAGGCCCCTGGGATGGACTTGCTCAAGGTCACCAGCTTGGGCCGGACAGAACCGAGTCCTGAGACCCCGGGGTCTGAGGCCTCTCTGCCCACCTCACCCTTTGCCCGCCCTCACCTCGCTGTTCTTCTCTCCTCCTGTGTCCCCCAACCCACATCTTCCTGTCTTACTGTTTCCTCCCGGCTTCTCCTTTCTGCCAACATTTATTATACACTTACTGTATGCCAGGTTCTGTGCCCAGCACCTCCTCGGTGCTGCCTGGATTTATCTTCCAAAGGTCCCCACGATATAGGCATCGCGATTACCCCATTGTGTGGAGGCTAAAACTGAGGCCCAGAGATGCTCTGTCACTTGTCCCAGGGGACCCAGCCTGTCCCCCCCACAACCCTCTGTCCAGGGGTTCAGAGTCCACTCTGGTAGTTCTCAATGCTGGAAGATGGATAGCCACCGGGAAACTCAAAATCAAACGTGGCCCACTGCTGTGCCCCCAAGCCAGAGAGGAGCTCTCGGCCCCGCCGGGCAGAGCCCTGGCCTGACTGGCTGCATCCGGAAGGAGAAGCTGACTCTGCCTCCTGCGGGGTGGGAGGAAGCCCCTCCCAGAAGGTTGAAGAGCGTGGGTGTGGACGGCCTGGACACCCGGGAGGACGGAAGACGCTGCACGAGAGTGTGGGAGATGTTTTATTGGCTTTCACTTTCCTCAGGGAGCCAGCGGCTCCCCCAGCAGGTCCCCACGGTGGAGCCGAGTGAGCTGGGAGGGATGGGTGCTTACTTCGTTTCAAAG | TGGGTCCCAGGGCCAGGGCCTCCCACCCCACCCATCTCAGAGGACAGAGGGCTCAGGTCCCAGACGTGCCTGGATGATGTGGGGTCACCCACATTGGGGGGAGTGTGAGGGAGCCACCGCCTGTGGGATCTTGGCAGGAGGACAGCAGGGTGACTGGGGCCAGCAGATGTCTCTGGTGTTCTGGGGAGCTCAGCGGGGTTTTCCAAGGGGAACATCTGGACGGGGAGCCACTGGAGGGGGTGGTGACTTCGCGAGATGCATTTGATCGGCCCACAACAAACAGTCTGCACCACAGACCCAGGAAAGCTGGGGCCAGAGGACCCTCAGGGAGATGGGAGAGGAGGGACCACCCCTCACTGTGCATCTGGGGAGACTGAGGCAGCCCTGCGTGGGGAGAGAATCAGATCCTCCTGACGGCCAGCTAGTGCCTGGACCCCCTGGGAAATGAGAGAGGAGGGACCACCCCTCACTGTGGATCTGGGGAGACTGAGGCAGCCCTGGGTGGGAGACAATCAGAGCCTCCCGAATGCCAGCCAGTGCCCTTTTGTCGGCATCTCAACTCAGCCTTGGAGCCGCAGGTCTAGTTTCAAATGGGCTTCCACGGGTCCTGTGTCAGTTGGGACTCATGGCCGCCTGGGAAGGGTGGGGTGGGGAAGGGGGAGTGTGCAGGTTCCCCGCCCCCTGCCCAGGCCCCTGCCCCATCAGGAGGCTTTCCCCATGCCTTCTGTCTCTCCCACACCAGTGCACCAAGACCTGCGGGGTGGGCGTGAGGATGCGAGACGTCAAGTGCTACCAGGGGACCGACATCGTCCGTGGTTGCGATCCGTTGGTGAAGCCCGTTGGCAGACAGGCCTGTGATCTGCAGCCCTGCCCCACGGAGCCCCCAGGTGAGGCGCGGGGAGGCCGAGGGTGGCTCTGGGAATTCCCAGGGGAGGCGAGGACAGAGTCAGGGCCTGAGGGGTGAGCAGACATTGCTCACCTTGATGGCGAGCCTGGGAACCAGCTTGAGAGACCAAGCTGTGCAGGGAGTGGGGGCTCCCTCCCGGCATGGCCGAGCCCCACTGGGAGGGGAGAGAGGGAAGGGGAATGGGGGAGGCCTGACTGGGGCTCCATGGCCCCAGGGAGCCATGCTGAGACCTGTACTTTGGGAAAAGGGTCAGCTTCAGATGGCAGGGCCACTGTGGGGCCAAGACCTGAATCCAGGATGACTCAGCTGGAGCGGCCAGGGGCTGGCACACAGGGGGCAGGGAGGGGAGCAGCTGAAGCAGGGCCTGGGCACCTGGAGGAGGGACAGGGTGCCAGGTGCAGGGCACGTGATGAGTTATGCTTTGGATACATTGAGTGGTGGACGGGGGGCCCCTGTGGAACCCTTGGGGATGCTTAGGCCTCTGGGTGTGACATCTGTAGCTCCTTTAGGCATCACTCCTCTTGGGACACAGATCAAATCACCTGGCATGATCTGGGACAGCGACATCTTGGGGACAGAGATGGGCCAGGAAGGAGGGGGCAGAGAGCTAGAGATGGAGACCCACCACGGGGTGGGAGGCCCACTGCCCCTGGAAAACGGCACGTGGGGGTCCCTGGGGTTTTCGCCCCTTGGCCACCTCCTGAAACTGCCCTGCTTCGCTCTGTGTTCCTTCTCCAGATGACAGCTGCCAGGACCAGCCAGGCACCAACTGTGCCCTGGCCATCAAAGTGAACCTCTGCGGGCACTGGTACTACAGCAAGGCGTGCTGCCGCTCCTGCAGGCCCCCCCACTCCTAGGCCCGGCAGCTGCAGCCCCTTCCAGATGAAGACCAAGCGCCCCTCCTGGGGCTGCTGCAGCTTCTGGGGCCTCCACAGACCCCCCTCCTGCGGGGCACGCTGGCCTAAGAGACGTGGCACTGAGCCTCGGCTGTCGAGAGGGGACTTCCCACGGCCCGTGGACCTTTGTGCTCCTGGGGCAGAGCCTCCGGCACCCAGTGGCCTCCCCCAGACAGAGCCACCCCTGCCGTGGGAACCTGTCCGTGTTCCTGCGTGGATCCTGTGTTTGTGGCTCCCACTCCCCAGCCCCCAGCAGCCCCCAGCCGAGGGGCCCAGGGCCCACAGCCAGCGGTGGAGGTGTCTTGCTCCGGGCCCGTAGCCCACGCCCTCTCTGGGTGGCAGGGCCTTCTGAAGGAAACTTGCAGGCGAGCCCAACGTGGTGGGGGGCCTTCCTCCCTCAGAGGCCATGGGGTGAGAGGGGCTCAGGCAGCCAAGGAGGCCCAGGCGTGCTCCCTCTTATGGAGCCCCTCCCATGGAGCTCTCTTCCCGCCGCACTTTCTACCCCGGGCAGAGGCGCTTGCCCACGGGACGTTTGGGGATGGACCTCGGCCCCCGCCCCTGCAGTCAGCGTCAGTGCTCATCTACGTTAATAAAGTGGTCCTATTTATGGCGGCATCATGGGGTCTCAGTTGCCTCTGGCTGGAGAAGTGGGTGGCCTGGGGATTGGAGGGCCCAGGCCTGGCTGTGTGGGGTCCCTCCAGCTCACTGAGGCCTCAGGGGCAGGGGTGGGCCGTGGGGGACCACAGCACCTGCTCTGAGGAGAAAGACAGACGCAGATAAAAGGCAACGAGAGGCGTGGGGAGTGTGCAGGGAGGGCGTCTGGGGACACTGGGACTCAGGCGCTGGAGTAGGAGTGGACATCTCGAGCCCATCAGCAACTGGTACAGGACCTGTGGGGGCAGGGGGCAGGGACCTTGGCTAAGGTGTAGGGCACCCACCTCCAAGTGCGTGGGCAAGAACAGAGGAGATGAGGCAGGTGTTGGGGGCGCGGGGCTGGGCCCACCTTGAGCCTCAGGAAACAGCACCGTCACTGCCGCTCCTGGAGCTCATGGAGGGCTTCCTGACCCGGACTTGTGGGTGCAGGAACGCAGGGGCTTCTGGGGAGGGGCTGCTTGGTTGACCCAGCAGCAGGAGTGGCTTTTCCCAGACAAGAGGGCAGCAAAGAGCACTCAGGAGAGGAAAAGTGACACAGCTGGAGGACGCTGCATGGGAGGAAGGACGGGGCTGTACCGCCCGGAGAGGCCCCAGGAGGTGTCTCTGAGCACGCAGGCAGTCGGGAGGTGAGTGGCTGCCGGGCTGCTTCCTCGATGTGAGGCCAGCTTGTTCTCAGACTGGGAGCCACAGCAGCGTCCATCACAGCTTTAGGGGGGCTTCTGAAGGACTTGGGGCTCTGGGGAAACTAAGGCAGCACCCCCCCCCCCAGTGTGTTCTTGCCTCTGAGTGTGCCTGCACGCGTGTGCACTGAGGCGCTGCAATCAGGATGGTCCTTTCAATCCCTAAAGTCCAGGAATTAAGAGGCCCCTGGGATGGACTTGCTCAAGGTCACCAGCTTGGGCCGGACAGAACCGAGTCCTGAGACCCCGGGGTCTGAGGCCTCTCTGCCCACCTCACCCTTTGCCCGCCCTCACCTCGCTGTTCTTCTCTCCTCCTGTGTCCCCCAACCCACATCTTCCTGTCTTACTGTTTCCTCCCGGCTTCTCCTTTCTGCCAACATTTATTATACACTTACTGTATGCCAGGTTCTGTGCCCAGCACCTCCTCGGTGCTGCCTGGATTTATCTTCCAAAGGTCCCCACGATATAGGCATCGCGATTACCCCATTGTGTGGAGGCTAAAACTGAGGCCCAGAGATGCTCTGTCACTTGTCCCAGGGGACCCAGCCTGTCCCCCCCACAACCCTCTGTCCAGGGGTTCAGAGTCCACTCTGGTAGTTCTCAATGCTGGAAGATGGATAGCCACCGGGAAACTCAAAATCAAACGTGGCCCACTGCTGTGCCCCCAAGCCAGAGAGGAGCTCTCGGCCCCGCCGGGCAGAGCCCTGGCCTGACTGGCTGCATCCGGAAGGAGAAGCTGACTCTGCCTCCTGCGGGGTGGGAGGAAGCCCCTCCCAGAAGGTTGAAGAGCGTGGGTGTGGACGGCCTGGACACCCGGGAGGACGGAAGACGCTGCACGAGAGTGTGGGAGATGTTTTATTGGCTTTCACTTTCCTCAGGGAGCCAGCGGCTCCCCCAGCAGGTCCCCACGGTGGAGCCGAGTGAGCTGGGAGGGATGGGTGCTTACTTCGTTTCAAAGN | benign | 153,644 |
Variant on chromosome 9, at position 133656586, affecting DBH: is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Orthostatic_hypotension_1'] | TGACAAGTGTCCTAGGTTCCTGATCACAAACTCAGGGTGGAGACAGGACAGCTTTGTCAGTCCTTTATTCTCTCTAGAGGAGGTGCTCAGTATATCACAGCAGTGGCTGATGTCGGGTGCTTGCCACAGCTCAGCACTGCTCTAATAACTCATCCTAACCACACCAAGCCTTGCTGAGACCTCTGAGCAATCCCACCAGGAGATACAGTGAGGTCCAGCCACTCAGGCCACACAGCGAACAGGAGGCAGGGCTGGTATGGGTGCAGGTGCCAACCCCGACTGTGCCGCCTCTCGGCTAAGCACCTGTGCAGTGACTGAGTGGGCTCGCAAACAGAGGGCTCTGCAGGTGGAGCACCCCAGGCAAGTCCCCACCATCAGCCCCATTCTGCAGGCGCGGCCCCGGGGCCAGGGATGGGAGGGTCTTGCCGGGCATCCAGCGAGGAGACTGCATATTCCCTGCCCAATCTGGCTTCACGGCGGCGGAACTGACGCCACGTCCCAGGGCGTTCGGGGCTGCCAGGCCTGGTGAGCACCGCGGACATCTCAGATGGCCGTTCTGCAGGTTGAGGCCCTCGGTGCCAGCGTCCCCGTGGGCAGTTCTGTGGCTTCCCTGGCCCATGTCGTCCTCTTGGCAGTGGCCACATCACAGCACCAGGTGGGATCAAAGGGGAGGGCAGCTCCCCAGGTGGACCTGAGCTTCTCACACTCTGACAAGCCCTCGCCTGCTGATCCAAGACACAGTGGCCTTTGAAATTCGATTTCCTTCCCCAGGTGAAAGAGGAGAACAGATTCTACACAGGGTCGGACTCAGTTCCCTTTTGATGTCTGTGGTGGCAGAGGGTGGGGAGGGACAGGAACTCACACAGGAGGGCAATCGTCCCGATCTGACGGGGGCGGGATGGATGAGAAAAGCTGGGAAAGGAGGAATCCGGCCCAGAGAACAATGCTGGCAAAAACGCGTCCTGGCCAACAGGTGCCAGGTTTCGTCTCTGGGCAGAACTGTCCCATGCTCTTTGTCTGCACGGGAGGAGGGGGCGGCAGCTGGTGTAAGTGCCACGCCAAGCTTTGCCCAGTCCCTTTGTTCTGCCATAGAGTAAAGATTGCCTTTCTTCCCCACCAGCCAGATGAAATCCCCAGGCCCACAGCAGCTTCACAAACAGCGGGGAGCCTGGAGGGGCAAGGGTGGCCAGGGCGTCATGTCCCGGCCCCTGACCTGCTGGGATCTGAGCTGCTGCCGGGGGAGCTTTGCTCTCTCCAGCCCCAGCTCCTCCAAGCTGCTGCTGTTCTTCCTCCTATGGCTGAGGCTCCACGGTCACCAGCTCCAAGAGCAGCAACCCAGCGAGGGGCTTAAAGCTGGCAGTGGGGACTCAGAGGGTGCCTGCCCTGCCCCTCCCATGCGATGGCAGGCCGTAGGGTTGCCGTGAGAGGCTGGAGGTTGTCGCGGCCTCTAGTCACGGTCCTGTCTTATAGAGTCCCTGCTCCCCTCAGAGCCACGTTGGAGAAATGACTGGTGGACGGTGCGGGGCTGCAGTGGAAAGGGCCTCCCTTGCAGTCCTTGGCTCCAGGCTCTCGCTGGAGGTCATGGGGACAGCTTCCAGACAATGGCCGGGACGCTGGGTGCACTCAGGCTGTGCCACCGATGCTGTGGCCACCACGGGGCATCCCCTTGCCTGCTCTGAGACTCAGTTTCTGTACCCATAAAATGGGCACAATAACACCCCATCCGCTTGTCCCGTTTCATTTTTCCTCACAGCATCATCAGTACCTGATACGAATTTCCTGGTTGACTCACTCACTCACTGCCTGTCTCTCCTGCCAATGGTGGCAATTCCTTGAGGGCAGGGACTCGGTTCCCCAGAGCATGCCTGGCACGGTGCAGTGAACAGACGAGTGGACGCAGTGTACACGTGGGTGCGGCGAAAGCTGCTGGATGGCAGCGTCTGCGTGGCATGGCCCGGGGCTGACGGGTCTCCTCCAACTTGCAGGGGGGCTTCGGGATCCTGGAGGAGATGTGTGTCAACTACGTGCACTACTACCCCCAGACGCAGCTGGAGCTCTGCAAGAGCGCTGTGGACGCCGGCTTCCTGCAGAAGTACTTCCACCTCATCAACAGGTGAGGGCTCCCTGCACAAGCTCCCTGCCCCCAGGGAACCCCGACACAGAACCTCGGGCCTGTTAGGCGGCTGGGCAGATTGGAGGAGTCCAGGCTAAGTTCTAGGAGCAGAGACCTGTGGCGGCATCACTCACCCCTCCCCTCACTCGTTTCCTGCTGAGTCTGGATTTGGCTTCAGAGCCTCCTCAACCCAGCCTGCAGCAGCCATTACCCACCCGCCAAGGTGACAGGAGAGGTGAGGCCGTTGCCGGTGAAGGCAGCATCTGGGGTGGCCTGGCGGAGGCAGCGGGGCTGGGGAGGAGGTGGCAGGACGGTTGCCCCAGGGACAGGACTCGAGTTGCAGGGAGGTGTTGCTGGTGCCCACTGGGCTCCCTGCCCGTCAGCTGCTCCCCAGCCTGGCTGTTCCTTGTCCCCACCAGGTTCAACAACGAGGATGTCTGCACCTGCCCTCAGGCGTCCGTGTCTCAGCAGTTCACCTCTGTTCCCTGGAACTCCTTCAACCGCGACGTACTGAAGGCCCTGTACAGCTTCGCGCCCATCTCCATGCACTGCAACAAGTCCTCAGCCGTCCGCTTCCAGGTGCGCTGCCATGGGCCCGGGTGGGGCATGCAGTCAGGCAGGCCTCATGGGGGGCCCCAGTGAGGGGTGATGGGTCTGCACTCCAAACTGCTGGCAAAAGCACTCGCACAAGACAATGAGAGCAAGTGCCAGGTGGTGACACATAGGCCTAGACAGCCAGCCAGCCAGCAGAGAGAGAGGAGAGAGGAGAGAGAGGAGAGAGAGGAGAGAGAGGAGAGAGAGGAGAGAGGGAGAGGGAGAGAGGGAGAGGGAGAGAGGAGAGAGAGAGGAGAGAGAGAGAGAGAGAGAGGGAGAGAGAGAGAACCAATAACGAGGCAAGGAAGGGAGGGCAGGCACCCTCTCTGGTGACACCTCCACACTGTACCGAATGCCAAATGCAGGTGGTGTGAGCAGGGCGCACTAACCTGCCTAAAAATAAAGCACCAGGGGAGGGGAAGGTAAGAAACGAACCAGTCTGAAGCTGCGAGCTGGTTTTTTCCTCCTTATCTGAGACCCACTGGTATTCGAAGGCATCTAATTTATCCTGGGCCCACTGGGCTGTGGTCAGGAGGCCAGGGCCTATGCAGAGTTAGTCGCGTAAGGTGCCGCAGCCTGGAGATCCAGGAAGATCCTTCCCAGAAGCATTTGGGAGCCAGATTAACTGCTAAGTCAAACATCCTCAGCACCAAGGGAAGGAAGGGCTAATACTGGCTTGCTGAGAATAGTGTGGGGTGGACGTCTGATGGGGTTGAAAACTTGGCATTTGGTGTAGCCTTGAGGGGAAGAGATAGCTAAAAAATATCAGAGCCTGCAGCCAGGGGCTCTGGTTGCTACACTAGGGTGAATGATTAAATTGGGTGGGGACAGAGGCGGGGAGAGGCCTGGATGACTCCCAGGTTCCTGACTAGGTGAATGGGAAGCCAGGGGAGGGGGCATTTACTGAGGTGAGGACCCCCAAAAAGCAACTTGGGGGAGCAGAGTGAGTTCAGTTTGAGACAAGCTGAGTTTGAGGGCAAGAATCCAAGAGGTGGCTGGGAAGTGGCTGGGGAAGCAGCCACCCATCTTGCCCCTCCAGCCTCAGTTTACCTCCTGCCCCCTTCCTTGCAGGGTGAATGGAACCTGCAGCCCCTGCCCAAGGTCATCTCCACACTGGAAGAGCCCACCCCACAGTGCCCCACCAGCCAGGGCCGAAGCCCTGCTGGCCCCACCGTTGTCAGCATTGGTGGGGGCAAAGGCTGAGGGGGGACCTACTCCTCCCCCTCCTCCATGCTGTCCCTGTGGGCTCACACCGGCACTGTGCACTCTACTCTGCGACGATCCCCATGGAACAGCCCTGCACGCCCAGGATGAAGGGGCCAGACCACGCCCCTGCCTGAGACCACGGTCCAATCCAGCCTTCTTCCCCCAGGGTCCCCTGCATGGCTG | TGACAAGTGTCCTAGGTTCCTGATCACAAACTCAGGGTGGAGACAGGACAGCTTTGTCAGTCCTTTATTCTCTCTAGAGGAGGTGCTCAGTATATCACAGCAGTGGCTGATGTCGGGTGCTTGCCACAGCTCAGCACTGCTCTAATAACTCATCCTAACCACACCAAGCCTTGCTGAGACCTCTGAGCAATCCCACCAGGAGATACAGTGAGGTCCAGCCACTCAGGCCACACAGCGAACAGGAGGCAGGGCTGGTATGGGTGCAGGTGCCAACCCCGACTGTGCCGCCTCTCGGCTAAGCACCTGTGCAGTGACTGAGTGGGCTCGCAAACAGAGGGCTCTGCAGGTGGAGCACCCCAGGCAAGTCCCCACCATCAGCCCCATTCTGCAGGCGCGGCCCCGGGGCCAGGGATGGGAGGGTCTTGCCGGGCATCCAGCGAGGAGACTGCATATTCCCTGCCCAATCTGGCTTCACGGCGGCGGAACTGACGCCACGTCCCAGGGCGTTCGGGGCTGCCAGGCCTGGTGAGCACCGCGGACATCTCAGATGGCCGTTCTGCAGGTTGAGGCCCTCGGTGCCAGCGTCCCCGTGGGCAGTTCTGTGGCTTCCCTGGCCCATGTCGTCCTCTTGGCAGTGGCCACATCACAGCACCAGGTGGGATCAAAGGGGAGGGCAGCTCCCCAGGTGGACCTGAGCTTCTCACACTCTGACAAGCCCTCGCCTGCTGATCCAAGACACAGTGGCCTTTGAAATTCGATTTCCTTCCCCAGGTGAAAGAGGAGAACAGATTCTACACAGGGTCGGACTCAGTTCCCTTTTGATGTCTGTGGTGGCAGAGGGTGGGGAGGGACAGGAACTCACACAGGAGGGCAATCGTCCCGATCTGACGGGGGCGGGATGGATGAGAAAAGCTGGGAAAGGAGGAATCCGGCCCAGAGAACAATGCTGGCAAAAACGCGTCCTGGCCAACAGGTGCCAGGTTTCGTCTCTGGGCAGAACTGTCCCATGCTCTTTGTCTGCACGGGAGGAGGGGGCGGCAGCTGGTGTAAGTGCCACGCCAAGCTTTGCCCAGTCCCTTTGTTCTGCCATAGAGTAAAGATTGCCTTTCTTCCCCACCAGCCAGATGAAATCCCCAGGCCCACAGCAGCTTCACAAACAGCGGGGAGCCTGGAGGGGCAAGGGTGGCCAGGGCGTCATGTCCCGGCCCCTGACCTGCTGGGATCTGAGCTGCTGCCGGGGGAGCTTTGCTCTCTCCAGCCCCAGCTCCTCCAAGCTGCTGCTGTTCTTCCTCCTATGGCTGAGGCTCCACGGTCACCAGCTCCAAGAGCAGCAACCCAGCGAGGGGCTTAAAGCTGGCAGTGGGGACTCAGAGGGTGCCTGCCCTGCCCCTCCCATGCGATGGCAGGCCGTAGGGTTGCCGTGAGAGGCTGGAGGTTGTCGCGGCCTCTAGTCACGGTCCTGTCTTATAGAGTCCCTGCTCCCCTCAGAGCCACGTTGGAGAAATGACTGGTGGACGGTGCGGGGCTGCAGTGGAAAGGGCCTCCCTTGCAGTCCTTGGCTCCAGGCTCTCGCTGGAGGTCATGGGGACAGCTTCCAGACAATGGCCGGGACGCTGGGTGCACTCAGGCTGTGCCACCGATGCTGTGGCCACCACGGGGCATCCCCTTGCCTGCTCTGAGACTCAGTTTCTGTACCCATAAAATGGGCACAATAACACCCCATCCGCTTGTCCCGTTTCATTTTTCCTCACAGCATCATCAGTACCTGATACGAATTTCCTGGTTGACTCACTCACTCACTGCCTGTCTCTCCTGCCAATGGTGGCAATTCCTTGAGGGCAGGGACTCGGTTCCCCAGAGCATGCCTGGCACGGTGCAGTGAACAGACGAGTGGACGCAGTGTACACGTGGGTGCGGCGAAAGCTGCTGGATGGCAGCGTCTGCGTGGCATGGCCCGGGGCTGACGGGTCTCCTCCAACTTGCAGGGGGGCTTCGGGATCCTGGAGGAGATGTGTGTCAACTACGTGCACTACTACCCCCAGACGCAGCGGAGCTCTGCAAGAGCGCTGTGGACGCCGGCTTCCTGCAGAAGTACTTCCACCTCATCAACAGGTGAGGGCTCCCTGCACAAGCTCCCTGCCCCCAGGGAACCCCGACACAGAACCTCGGGCCTGTTAGGCGGCTGGGCAGATTGGAGGAGTCCAGGCTAAGTTCTAGGAGCAGAGACCTGTGGCGGCATCACTCACCCCTCCCCTCACTCGTTTCCTGCTGAGTCTGGATTTGGCTTCAGAGCCTCCTCAACCCAGCCTGCAGCAGCCATTACCCACCCGCCAAGGTGACAGGAGAGGTGAGGCCGTTGCCGGTGAAGGCAGCATCTGGGGTGGCCTGGCGGAGGCAGCGGGGCTGGGGAGGAGGTGGCAGGACGGTTGCCCCAGGGACAGGACTCGAGTTGCAGGGAGGTGTTGCTGGTGCCCACTGGGCTCCCTGCCCGTCAGCTGCTCCCCAGCCTGGCTGTTCCTTGTCCCCACCAGGTTCAACAACGAGGATGTCTGCACCTGCCCTCAGGCGTCCGTGTCTCAGCAGTTCACCTCTGTTCCCTGGAACTCCTTCAACCGCGACGTACTGAAGGCCCTGTACAGCTTCGCGCCCATCTCCATGCACTGCAACAAGTCCTCAGCCGTCCGCTTCCAGGTGCGCTGCCATGGGCCCGGGTGGGGCATGCAGTCAGGCAGGCCTCATGGGGGGCCCCAGTGAGGGGTGATGGGTCTGCACTCCAAACTGCTGGCAAAAGCACTCGCACAAGACAATGAGAGCAAGTGCCAGGTGGTGACACATAGGCCTAGACAGCCAGCCAGCCAGCAGAGAGAGAGGAGAGAGGAGAGAGAGGAGAGAGAGGAGAGAGAGGAGAGAGAGGAGAGAGGGAGAGGGAGAGAGGGAGAGGGAGAGAGGAGAGAGAGAGGAGAGAGAGAGAGAGAGAGAGGGAGAGAGAGAGAACCAATAACGAGGCAAGGAAGGGAGGGCAGGCACCCTCTCTGGTGACACCTCCACACTGTACCGAATGCCAAATGCAGGTGGTGTGAGCAGGGCGCACTAACCTGCCTAAAAATAAAGCACCAGGGGAGGGGAAGGTAAGAAACGAACCAGTCTGAAGCTGCGAGCTGGTTTTTTCCTCCTTATCTGAGACCCACTGGTATTCGAAGGCATCTAATTTATCCTGGGCCCACTGGGCTGTGGTCAGGAGGCCAGGGCCTATGCAGAGTTAGTCGCGTAAGGTGCCGCAGCCTGGAGATCCAGGAAGATCCTTCCCAGAAGCATTTGGGAGCCAGATTAACTGCTAAGTCAAACATCCTCAGCACCAAGGGAAGGAAGGGCTAATACTGGCTTGCTGAGAATAGTGTGGGGTGGACGTCTGATGGGGTTGAAAACTTGGCATTTGGTGTAGCCTTGAGGGGAAGAGATAGCTAAAAAATATCAGAGCCTGCAGCCAGGGGCTCTGGTTGCTACACTAGGGTGAATGATTAAATTGGGTGGGGACAGAGGCGGGGAGAGGCCTGGATGACTCCCAGGTTCCTGACTAGGTGAATGGGAAGCCAGGGGAGGGGGCATTTACTGAGGTGAGGACCCCCAAAAAGCAACTTGGGGGAGCAGAGTGAGTTCAGTTTGAGACAAGCTGAGTTTGAGGGCAAGAATCCAAGAGGTGGCTGGGAAGTGGCTGGGGAAGCAGCCACCCATCTTGCCCCTCCAGCCTCAGTTTACCTCCTGCCCCCTTCCTTGCAGGGTGAATGGAACCTGCAGCCCCTGCCCAAGGTCATCTCCACACTGGAAGAGCCCACCCCACAGTGCCCCACCAGCCAGGGCCGAAGCCCTGCTGGCCCCACCGTTGTCAGCATTGGTGGGGGCAAAGGCTGAGGGGGGACCTACTCCTCCCCCTCCTCCATGCTGTCCCTGTGGGCTCACACCGGCACTGTGCACTCTACTCTGCGACGATCCCCATGGAACAGCCCTGCACGCCCAGGATGAAGGGGCCAGACCACGCCCCTGCCTGAGACCACGGTCCAATCCAGCCTTCTTCCCCCAGGGTCCCCTGCATGGCTGN | pathogenic | 153,693 |
Variant on chromosome 9, at position 134727340, affecting COL5A1 (collagen type V alpha 1 chain): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Ehlers-Danlos_syndrome,_classic_type,_1'] | TAGAGTGGGGATTAGTCGGACACAATTCATAGGGTTCTTGAGGGCACAGAGAGACCAGGTGCAGGCTCTTTACCTTGTACTTGATCTGTGGTAAACATGATCTAATTCGTCATCACTGTCATTACTATAATCATTACTATATTGGTCGGCTTCTATGCATCTGATTATGGTCAAAAGATCCTCTGCTTTGGAACACCCAGGGTGCTGCCAGGGTGACTCCTAGCGTGCCTGTCATCTTCATCTCTGCAGATAGCGTTTATGAGACCTGCATTTCTTATTCCTACTAGCAGCCCTTTTATTTCTCCTGTGTACACATTGTGGTGAGAGAATAATGGAATAAATTGTTTACACATCATGGTTAGAGGAAGAAGGAATAAGTGCTTGCATGCTTTTCCCGGCTGACACAGTTAGAGTGTAGGCTGCTCACAATGAATCCGAAAGTTCAGTTGTTAGCAGTGTGGGTTCATCCGCCTTGTAGTGTGGGGCAGTACTTCCTTCCCTTTTGTGGTTGAATGATATTCCATTCTATGCATATACCACACTCTGTTTATCCATTTAGCTGTCGGTAGACATGTGGGTTGCATTTATCTTTTGGCCATTGTGACTAATGCTACTATGAACACTTGTATACATTTATTTGTTTGAGTCCCTGTTTTGTTTGGAGGGTGAACTGATTTGGGTGAATTGTTTATGCATCTGTTTCAGTTCCGGAGATTGGAATTACTGGTCATATGGTAATTCTAGTTTTAACTTTTTGAGAAACCAGACATCACCTCTTTAAAAATACTCTCTTCCCCAGTGGTTGAGGGGTAATGGCAAAGGAGGCAGGGTACCTCCAAGCCCTCGGGGTCTAGGGCGGGTGAGAGTGCAGGCTGTTTCTCACAACAGGCAAAAGCTGCCAGCACTGCACTGGCATCTGGCAGGTGCTCAACAGGTGTCTGGTAAATGGATGAGTGAATGGGTGGTGGATTGATGGGTGGGTGGGTAGATGGGTGGATAGACAGATGAATGGATGGGTGGATGGGTGGAAGGATGAGTAGAGGGACGGAGAGATGGATGGAAGGATGTATGTATCTGGATGGATAGATAGATGGATGAATTAATGAGCAGATAGATGGCTGGGTGGATGGATGGACAGGTGGATAGGTAGATGGATGAATGGATGAGTGGATGGATGGGTGAATGGGTTGAAGGATGAGTGGATAGATGGATAGATGGATAGAAGGATGTGTATGTGCAGATGGATGGATGCATGGATGGATAAGTGAATGAGTGGACAGACGGATGGAGGAGTGGATGGATAGAGGGTTTAATGGATGGATGGACAGATGAATGGGTGAATGGATGGGTAGATGGATGGATGGGTGGATGGGAGAATGGATGGATGGGTGAATGGATGGAAGGACTGGTAGATGTAGATGGATAGGTGGACAGATGGGTGAATGGATGAATGAAAGAGTGGATGGATGGATGGATGGATGGGTAGATGGATGGAAGCATGTATATATGCAGATGGATTGATGGATGAGTGAATGAGTGGACAGATGGAAGGATGGATAGATGGTTTATGGATGGATGGATAGGTGAATGGGTGAATGGATGGATAGATGGATGGATGGGTGGATGGGTGAATGGGTGGGTGAATGGATGGAAGGACTGGTAGATGTAGATGGATAGGTGGATAGATGGGTGAATGGATGAACGAATGAGTGGATGGATGGATGGATGGATGGATGGGTAGATGGATGAGTGAACGGATGGATGGATGGATGGATGGATGGATGGATGGGCCAGCCTAGCTTGAGTGTCTTTTGTGAGTGGCAGCTTCTAGGGAGAATGTTTGGCTCTGAGGACAAGCTCGTCTTGTGGCTTGGTCTGGACTTTCCCCTGCTTCAAGGCATGGGGCTGTGTCTCCCAGGTCCCCATGCGAGTGCTCTGTGAGCTGCTTTTTCATGAGCGTCTCTTCTTTTCCAGGGTGACATCCAGCAGCTGCTCTTTGTCTCGGACCACCGGGCAGCTTATGATTACTGTGAGCACTACAGCCCTGACTGTGACACCGCAGTACCTGACACCCCACAGTCGCAGGACCCCAATCCAGATGAATATGTGAGTTAACTCTGGCTGGGATCTTGGGGAGCATGAGCAGACTACTTGGGATGGTTGGTGAAGAGACACATAAGCCATGGGACCCTTATTTTAAATAAATCCACTGGGTGAGAATTTGGAGGGACCTAGGAGGTAAACATTGGGATATCTGACTCACTTTACTAAATAGCACTGCCCAGAATGATAGGGTCACAGAGTTTGTCATCAATAACCCTCTCCTTTAACCTTTTGAACAAGCTCCTTGATGGTGAATGCCCAGTGCTCTCTCACGCTTGGGCTTGACCTTGATGGGGTATTTGTGAGCACAGATGCCACAGGTGTCCCCCATGGACTCGATCCACTGGAGGGGCCATGTGCAGCTCGCCAAAGAGGACGGAGCCTGGGCTTGTCTACTGTAGAATGGCCAGCCCTCGGATCCCTTGAGTGTAAAGTGTACTGTAGAGTGGCAGCCGTGCCTGACACCTTTGTCCCTCTTCCTGGGACCCGCCATGTCCATGGGTCAGCTGTCCTCCCCCTCCCGCTGCACACCCTCGCGGCACTGCAGTTTTTCTTATTTGCAGTTCTTCCTATCACCTCTGCATGAAAATGCTCTCCCACTCCCTGGGCCCACTGCCTCTCATTTCTCATCCGTAATATTAAATCCTGTTTATTTCTCCTTGGGTCTTCCTTCTTTCACCACCAGTCAGGAAAGAAGGAAGGGTAGCTTTCAGGAAGCTGTGGGACCCCGTGGCCCAGGCCACATCTTACAAACCCCAGGAGGGGCAGGACAGAGCTCCCAGCCGAGTCCCTGCTGCCCCGGCCTCCTGCCAGGCTCCTCCCAGCTCCTGGTGTGGGAATGGGCTCAGGACAAGGCCTACTCTGTCCCACTGAAGCCCTACCCGTGGGGTCCCTGGGCTTTGAGGCTTGGGGCTGAAGGCCCGGGAGCCTGCTGGAGACATGGTGACGGCTGCACAGACTGCCATTCTGTTGGTTGTTCTGGCCTGGGTTCCAAAGGGCCAGAAGCCTTCACCTTTGAGGGCTCATCTTTCTCTGACTGCTCGAGGGGACCTGGTGTTCCCCCTGCTTTCTCTCTTGTGCTTCTGATGAGGCTGCGTCAGCTTTCCAAGGAGCTGGAGAGGGAGGAACCCCATCCGGGGACCCACAGGGAGGTTCACGCCTGGGGCTGGACGGGGCGTCGTGGCGTGCAGATCTGGAGGTTGCGGAAGGAAGGACAGCAGGCTGGTCGCTCTGCGGGCTCCGCTGCTTCCTCACGGGGCCGCAATTCGCTTTCAGTACACGGAAGGAGACGGCGAGGGTGAGACCTATTACTACGAATACCCCTACTACGAAGACCCCGAAGACCTAGGGAAGGAGCCCACCCCCAGCAAGAAGCCCGTGGAAGCTGCCAAAGAAACCACAGAGGTCCCCGAGGTCTGGGCTGAGCGGGGGACTGGGTTGGGCTGGGCCCCTCGAGGCCATGGTGCAGGGGAGGGCGAGGCCAGGAGAGGTTGTGTCAGGGTAGAGGGTTGGGGGCTGTCTGGTGAAGGTTGCGGGGGCAGCTCAGTGAGGGAGCCGGCTGTTGCCATCCGAGCTTTGCTGTCACGGGGCGTATCGGGCTTTCCGCAGTGAGGAGGACGTTGGGAGATGCCAAGTATACAGGGGAGCATCTGCCAGCATCTCTGGGCCCTGGCCCCGGTCCCCACCCTGTACGAGGCACAGGGCTCTAGCAGGCCCAGGATGAGTTTGGTTCTCGGGTTCCTTAAGTGTGGGTGCAGCTGTGGTGGGAGAGGAGAGAGGAGAGCTCAGGGGCTCCCCCGGGGGGTGACGCAGTCTGAGGTCGGCCTCGGGTCCTCCCCGCTCTGGGCTGTCATCCCCTCACCTCTGAAATTGGGGAGGGTTGTGAGGGTGCGTGAGCGGCAGTGAGAGCCGGAGGGTCACACCTAGCAGGGCCCGGGCCCCGTGCAGGAGTGTGTATGGGTGGGTGTCCTCCTGGGGAGGAGGCTGTCCAGCC | TAGAGTGGGGATTAGTCGGACACAATTCATAGGGTTCTTGAGGGCACAGAGAGACCAGGTGCAGGCTCTTTACCTTGTACTTGATCTGTGGTAAACATGATCTAATTCGTCATCACTGTCATTACTATAATCATTACTATATTGGTCGGCTTCTATGCATCTGATTATGGTCAAAAGATCCTCTGCTTTGGAACACCCAGGGTGCTGCCAGGGTGACTCCTAGCGTGCCTGTCATCTTCATCTCTGCAGATAGCGTTTATGAGACCTGCATTTCTTATTCCTACTAGCAGCCCTTTTATTTCTCCTGTGTACACATTGTGGTGAGAGAATAATGGAATAAATTGTTTACACATCATGGTTAGAGGAAGAAGGAATAAGTGCTTGCATGCTTTTCCCGGCTGACACAGTTAGAGTGTAGGCTGCTCACAATGAATCCGAAAGTTCAGTTGTTAGCAGTGTGGGTTCATCCGCCTTGTAGTGTGGGGCAGTACTTCCTTCCCTTTTGTGGTTGAATGATATTCCATTCTATGCATATACCACACTCTGTTTATCCATTTAGCTGTCGGTAGACATGTGGGTTGCATTTATCTTTTGGCCATTGTGACTAATGCTACTATGAACACTTGTATACATTTATTTGTTTGAGTCCCTGTTTTGTTTGGAGGGTGAACTGATTTGGGTGAATTGTTTATGCATCTGTTTCAGTTCCGGAGATTGGAATTACTGGTCATATGGTAATTCTAGTTTTAACTTTTTGAGAAACCAGACATCACCTCTTTAAAAATACTCTCTTCCCCAGTGGTTGAGGGGTAATGGCAAAGGAGGCAGGGTACCTCCAAGCCCTCGGGGTCTAGGGCGGGTGAGAGTGCAGGCTGTTTCTCACAACAGGCAAAAGCTGCCAGCACTGCACTGGCATCTGGCAGGTGCTCAACAGGTGTCTGGTAAATGGATGAGTGAATGGGTGGTGGATTGATGGGTGGGTGGGTAGATGGGTGGATAGACAGATGAATGGATGGGTGGATGGGTGGAAGGATGAGTAGAGGGACGGAGAGATGGATGGAAGGATGTATGTATCTGGATGGATAGATAGATGGATGAATTAATGAGCAGATAGATGGCTGGGTGGATGGATGGACAGGTGGATAGGTAGATGGATGAATGGATGAGTGGATGGATGGGTGAATGGGTTGAAGGATGAGTGGATAGATGGATAGATGGATAGAAGGATGTGTATGTGCAGATGGATGGATGCATGGATGGATAAGTGAATGAGTGGACAGACGGATGGAGGAGTGGATGGATAGAGGGTTTAATGGATGGATGGACAGATGAATGGGTGAATGGATGGGTAGATGGATGGATGGGTGGATGGGAGAATGGATGGATGGGTGAATGGATGGAAGGACTGGTAGATGTAGATGGATAGGTGGACAGATGGGTGAATGGATGAATGAAAGAGTGGATGGATGGATGGATGGATGGGTAGATGGATGGAAGCATGTATATATGCAGATGGATTGATGGATGAGTGAATGAGTGGACAGATGGAAGGATGGATAGATGGTTTATGGATGGATGGATAGGTGAATGGGTGAATGGATGGATAGATGGATGGATGGGTGGATGGGTGAATGGGTGGGTGAATGGATGGAAGGACTGGTAGATGTAGATGGATAGGTGGATAGATGGGTGAATGGATGAACGAATGAGTGGATGGATGGATGGATGGATGGATGGGTAGATGGATGAGTGAACGGATGGATGGATGGATGGATGGATGGATGGATGGGCCAGCCTAGCTTGAGTGTCTTTTGTGAGTGGCAGCTTCTAGGGAGAATGTTTGGCTCTGAGGACAAGCTCGTCTTGTGGCTTGGTCTGGACTTTCCCCTGCTTCAAGGCATGGGGCTGTGTCTCCCAGGTCCCCATGCGAGTGCTCTGTGAGCTGCTTTTTCATGAGCGTCTCTTCTTTTCCAGGGTGACATCCAGCAGCTGCTCTTTGTCTCGGACCACCGGGCAGCTTATGATTACTGTGAGCACTACAGCCCTGACTGACACCGCAGTACCTGACACCCCACAGTCGCAGGACCCCAATCCAGATGAATATGTGAGTTAACTCTGGCTGGGATCTTGGGGAGCATGAGCAGACTACTTGGGATGGTTGGTGAAGAGACACATAAGCCATGGGACCCTTATTTTAAATAAATCCACTGGGTGAGAATTTGGAGGGACCTAGGAGGTAAACATTGGGATATCTGACTCACTTTACTAAATAGCACTGCCCAGAATGATAGGGTCACAGAGTTTGTCATCAATAACCCTCTCCTTTAACCTTTTGAACAAGCTCCTTGATGGTGAATGCCCAGTGCTCTCTCACGCTTGGGCTTGACCTTGATGGGGTATTTGTGAGCACAGATGCCACAGGTGTCCCCCATGGACTCGATCCACTGGAGGGGCCATGTGCAGCTCGCCAAAGAGGACGGAGCCTGGGCTTGTCTACTGTAGAATGGCCAGCCCTCGGATCCCTTGAGTGTAAAGTGTACTGTAGAGTGGCAGCCGTGCCTGACACCTTTGTCCCTCTTCCTGGGACCCGCCATGTCCATGGGTCAGCTGTCCTCCCCCTCCCGCTGCACACCCTCGCGGCACTGCAGTTTTTCTTATTTGCAGTTCTTCCTATCACCTCTGCATGAAAATGCTCTCCCACTCCCTGGGCCCACTGCCTCTCATTTCTCATCCGTAATATTAAATCCTGTTTATTTCTCCTTGGGTCTTCCTTCTTTCACCACCAGTCAGGAAAGAAGGAAGGGTAGCTTTCAGGAAGCTGTGGGACCCCGTGGCCCAGGCCACATCTTACAAACCCCAGGAGGGGCAGGACAGAGCTCCCAGCCGAGTCCCTGCTGCCCCGGCCTCCTGCCAGGCTCCTCCCAGCTCCTGGTGTGGGAATGGGCTCAGGACAAGGCCTACTCTGTCCCACTGAAGCCCTACCCGTGGGGTCCCTGGGCTTTGAGGCTTGGGGCTGAAGGCCCGGGAGCCTGCTGGAGACATGGTGACGGCTGCACAGACTGCCATTCTGTTGGTTGTTCTGGCCTGGGTTCCAAAGGGCCAGAAGCCTTCACCTTTGAGGGCTCATCTTTCTCTGACTGCTCGAGGGGACCTGGTGTTCCCCCTGCTTTCTCTCTTGTGCTTCTGATGAGGCTGCGTCAGCTTTCCAAGGAGCTGGAGAGGGAGGAACCCCATCCGGGGACCCACAGGGAGGTTCACGCCTGGGGCTGGACGGGGCGTCGTGGCGTGCAGATCTGGAGGTTGCGGAAGGAAGGACAGCAGGCTGGTCGCTCTGCGGGCTCCGCTGCTTCCTCACGGGGCCGCAATTCGCTTTCAGTACACGGAAGGAGACGGCGAGGGTGAGACCTATTACTACGAATACCCCTACTACGAAGACCCCGAAGACCTAGGGAAGGAGCCCACCCCCAGCAAGAAGCCCGTGGAAGCTGCCAAAGAAACCACAGAGGTCCCCGAGGTCTGGGCTGAGCGGGGGACTGGGTTGGGCTGGGCCCCTCGAGGCCATGGTGCAGGGGAGGGCGAGGCCAGGAGAGGTTGTGTCAGGGTAGAGGGTTGGGGGCTGTCTGGTGAAGGTTGCGGGGGCAGCTCAGTGAGGGAGCCGGCTGTTGCCATCCGAGCTTTGCTGTCACGGGGCGTATCGGGCTTTCCGCAGTGAGGAGGACGTTGGGAGATGCCAAGTATACAGGGGAGCATCTGCCAGCATCTCTGGGCCCTGGCCCCGGTCCCCACCCTGTACGAGGCACAGGGCTCTAGCAGGCCCAGGATGAGTTTGGTTCTCGGGTTCCTTAAGTGTGGGTGCAGCTGTGGTGGGAGAGGAGAGAGGAGAGCTCAGGGGCTCCCCCGGGGGGTGACGCAGTCTGAGGTCGGCCTCGGGTCCTCCCCGCTCTGGGCTGTCATCCCCTCACCTCTGAAATTGGGGAGGGTTGTGAGGGTGCGTGAGCGGCAGTGAGAGCCGGAGGGTCACACCTAGCAGGGCCCGGGCCCCGTGCAGGAGTGTGTATGGGTGGGTGTCCTCCTGGGGAGGAGGCTGTCCAGCCNN | pathogenic | 153,829 |
Gene mutation in COL5A1 (collagen type V alpha 1 chain) at chromosome 9, position 134728728—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Ehlers-Danlos_syndrome,_classic_type', 'Ehlers-Danlos_syndrome,_classic_type,_1', 'Familial_thoracic_aortic_aneurysm_and_aortic_dissection'] | GTGAATGGATGGAAGGACTGGTAGATGTAGATGGATAGGTGGACAGATGGGTGAATGGATGAATGAAAGAGTGGATGGATGGATGGATGGATGGGTAGATGGATGGAAGCATGTATATATGCAGATGGATTGATGGATGAGTGAATGAGTGGACAGATGGAAGGATGGATAGATGGTTTATGGATGGATGGATAGGTGAATGGGTGAATGGATGGATAGATGGATGGATGGGTGGATGGGTGAATGGGTGGGTGAATGGATGGAAGGACTGGTAGATGTAGATGGATAGGTGGATAGATGGGTGAATGGATGAACGAATGAGTGGATGGATGGATGGATGGATGGATGGGTAGATGGATGAGTGAACGGATGGATGGATGGATGGATGGATGGATGGATGGGCCAGCCTAGCTTGAGTGTCTTTTGTGAGTGGCAGCTTCTAGGGAGAATGTTTGGCTCTGAGGACAAGCTCGTCTTGTGGCTTGGTCTGGACTTTCCCCTGCTTCAAGGCATGGGGCTGTGTCTCCCAGGTCCCCATGCGAGTGCTCTGTGAGCTGCTTTTTCATGAGCGTCTCTTCTTTTCCAGGGTGACATCCAGCAGCTGCTCTTTGTCTCGGACCACCGGGCAGCTTATGATTACTGTGAGCACTACAGCCCTGACTGTGACACCGCAGTACCTGACACCCCACAGTCGCAGGACCCCAATCCAGATGAATATGTGAGTTAACTCTGGCTGGGATCTTGGGGAGCATGAGCAGACTACTTGGGATGGTTGGTGAAGAGACACATAAGCCATGGGACCCTTATTTTAAATAAATCCACTGGGTGAGAATTTGGAGGGACCTAGGAGGTAAACATTGGGATATCTGACTCACTTTACTAAATAGCACTGCCCAGAATGATAGGGTCACAGAGTTTGTCATCAATAACCCTCTCCTTTAACCTTTTGAACAAGCTCCTTGATGGTGAATGCCCAGTGCTCTCTCACGCTTGGGCTTGACCTTGATGGGGTATTTGTGAGCACAGATGCCACAGGTGTCCCCCATGGACTCGATCCACTGGAGGGGCCATGTGCAGCTCGCCAAAGAGGACGGAGCCTGGGCTTGTCTACTGTAGAATGGCCAGCCCTCGGATCCCTTGAGTGTAAAGTGTACTGTAGAGTGGCAGCCGTGCCTGACACCTTTGTCCCTCTTCCTGGGACCCGCCATGTCCATGGGTCAGCTGTCCTCCCCCTCCCGCTGCACACCCTCGCGGCACTGCAGTTTTTCTTATTTGCAGTTCTTCCTATCACCTCTGCATGAAAATGCTCTCCCACTCCCTGGGCCCACTGCCTCTCATTTCTCATCCGTAATATTAAATCCTGTTTATTTCTCCTTGGGTCTTCCTTCTTTCACCACCAGTCAGGAAAGAAGGAAGGGTAGCTTTCAGGAAGCTGTGGGACCCCGTGGCCCAGGCCACATCTTACAAACCCCAGGAGGGGCAGGACAGAGCTCCCAGCCGAGTCCCTGCTGCCCCGGCCTCCTGCCAGGCTCCTCCCAGCTCCTGGTGTGGGAATGGGCTCAGGACAAGGCCTACTCTGTCCCACTGAAGCCCTACCCGTGGGGTCCCTGGGCTTTGAGGCTTGGGGCTGAAGGCCCGGGAGCCTGCTGGAGACATGGTGACGGCTGCACAGACTGCCATTCTGTTGGTTGTTCTGGCCTGGGTTCCAAAGGGCCAGAAGCCTTCACCTTTGAGGGCTCATCTTTCTCTGACTGCTCGAGGGGACCTGGTGTTCCCCCTGCTTTCTCTCTTGTGCTTCTGATGAGGCTGCGTCAGCTTTCCAAGGAGCTGGAGAGGGAGGAACCCCATCCGGGGACCCACAGGGAGGTTCACGCCTGGGGCTGGACGGGGCGTCGTGGCGTGCAGATCTGGAGGTTGCGGAAGGAAGGACAGCAGGCTGGTCGCTCTGCGGGCTCCGCTGCTTCCTCACGGGGCCGCAATTCGCTTTCAGTACACGGAAGGAGACGGCGAGGGTGAGACCTATTACTACGAATACCCCTACTACGAAGACCCCGAAGACCTAGGGAAGGAGCCCACCCCCAGCAAGAAGCCCGTGGAAGCTGCCAAAGAAACCACAGAGGTCCCCGAGGTCTGGGCTGAGCGGGGGACTGGGTTGGGCTGGGCCCCTCGAGGCCATGGTGCAGGGGAGGGCGAGGCCAGGAGAGGTTGTGTCAGGGTAGAGGGTTGGGGGCTGTCTGGTGAAGGTTGCGGGGGCAGCTCAGTGAGGGAGCCGGCTGTTGCCATCCGAGCTTTGCTGTCACGGGGCGTATCGGGCTTTCCGCAGTGAGGAGGACGTTGGGAGATGCCAAGTATACAGGGGAGCATCTGCCAGCATCTCTGGGCCCTGGCCCCGGTCCCCACCCTGTACGAGGCACAGGGCTCTAGCAGGCCCAGGATGAGTTTGGTTCTCGGGTTCCTTAAGTGTGGGTGCAGCTGTGGTGGGAGAGGAGAGAGGAGAGCTCAGGGGCTCCCCCGGGGGGTGACGCAGTCTGAGGTCGGCCTCGGGTCCTCCCCGCTCTGGGCTGTCATCCCCTCACCTCTGAAATTGGGGAGGGTTGTGAGGGTGCGTGAGCGGCAGTGAGAGCCGGAGGGTCACACCTAGCAGGGCCCGGGCCCCGTGCAGGAGTGTGTATGGGTGGGTGTCCTCCTGGGGAGGAGGCTGTCCAGCCTCAGAGCCATTGTCAGAGGTAAAGAGGGTGGGGTGTGAGCATGGGCGGTGTGTGTGTGTGCATGAACGAGTGTGTGTGAGCATGTGGCATGCAGGCACGGGTGTGCTTGAGCCTGCGTGTGTGTGAGAGTGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGTATCCTTCCAGGGAAAGGTGACCTGGTCATCTCACATTGCTCTGAGAGCCTGGAGTGTTTTGCTACTTTTGTTTTTTAAATACTGAGATATGATTCACCCTTTTCTGGTGTGTAACTGGGTGGGTTTGAGTCCATTCTGAGCACGCTTAGTAACTGGGGGCTTGCAGCTGGGCTGCCTTCTTCCCACTTGCTCTGCCCCCAAGCCCCATGGATGGGGGCGGCCCCTGCACCCAAGAGGTCTCTGGGCCTCTTGACAGGCCTGGGCTCCAGGCGTTGCCACTGAGATGCCTGCACCCGGACATGCGGCAAGTCCCAGACCTGGCACCACTGCCGGCCTCCGCCCTGACTCCAGCTGTCTCTGTCCTTGGCTCCCAGGAGCTGACCCCGACCCCCACGGAAGCTGCTCCCATGCCTGAAACCAGTGAAGGGGCTGGGAAGGAAGAGGACGTCGGCATCGGGGACTATGACTACGTGCCCAGTGAGGACTACTACACGCCCTCACCGTATGATGACCTCACCTATGGCGAGGGGGAGGAGAACCCCGACCAGCCCACAGACCCAGGCGCTGGGGCCGAAATTCCCACCAGCACCGCCGACACCTCCAACTCCTCCAATGTAATTTCTTTCCTTCCCATTGGTTTGGTCTGGGGCAGTGGGCCAAGGGCCAGGGCTGGGGCCACAATGCTGAGCTCCCTTCTTACTCCAGTTCTCACCTTGGTGTCCTCGGGTGGCCCCTGTGTTCCACCACACCCTGGCCCTGGGCCCTTTGCAGCTGGGTGGCGTAATACTTCCCAGGGGAGGCCATTGCTGAACAAGTTTGGAATCCCTGGTTTGCTGAGTTCATCTCAATGTTGTCAATTTTTTGCCTGGAAAATGGGTAGAATGACCCTAGCCCTTCCGGTCTTTGAGGATTCA | GTGAATGGATGGAAGGACTGGTAGATGTAGATGGATAGGTGGACAGATGGGTGAATGGATGAATGAAAGAGTGGATGGATGGATGGATGGATGGGTAGATGGATGGAAGCATGTATATATGCAGATGGATTGATGGATGAGTGAATGAGTGGACAGATGGAAGGATGGATAGATGGTTTATGGATGGATGGATAGGTGAATGGGTGAATGGATGGATAGATGGATGGATGGGTGGATGGGTGAATGGGTGGGTGAATGGATGGAAGGACTGGTAGATGTAGATGGATAGGTGGATAGATGGGTGAATGGATGAACGAATGAGTGGATGGATGGATGGATGGATGGATGGGTAGATGGATGAGTGAACGGATGGATGGATGGATGGATGGATGGATGGATGGGCCAGCCTAGCTTGAGTGTCTTTTGTGAGTGGCAGCTTCTAGGGAGAATGTTTGGCTCTGAGGACAAGCTCGTCTTGTGGCTTGGTCTGGACTTTCCCCTGCTTCAAGGCATGGGGCTGTGTCTCCCAGGTCCCCATGCGAGTGCTCTGTGAGCTGCTTTTTCATGAGCGTCTCTTCTTTTCCAGGGTGACATCCAGCAGCTGCTCTTTGTCTCGGACCACCGGGCAGCTTATGATTACTGTGAGCACTACAGCCCTGACTGTGACACCGCAGTACCTGACACCCCACAGTCGCAGGACCCCAATCCAGATGAATATGTGAGTTAACTCTGGCTGGGATCTTGGGGAGCATGAGCAGACTACTTGGGATGGTTGGTGAAGAGACACATAAGCCATGGGACCCTTATTTTAAATAAATCCACTGGGTGAGAATTTGGAGGGACCTAGGAGGTAAACATTGGGATATCTGACTCACTTTACTAAATAGCACTGCCCAGAATGATAGGGTCACAGAGTTTGTCATCAATAACCCTCTCCTTTAACCTTTTGAACAAGCTCCTTGATGGTGAATGCCCAGTGCTCTCTCACGCTTGGGCTTGACCTTGATGGGGTATTTGTGAGCACAGATGCCACAGGTGTCCCCCATGGACTCGATCCACTGGAGGGGCCATGTGCAGCTCGCCAAAGAGGACGGAGCCTGGGCTTGTCTACTGTAGAATGGCCAGCCCTCGGATCCCTTGAGTGTAAAGTGTACTGTAGAGTGGCAGCCGTGCCTGACACCTTTGTCCCTCTTCCTGGGACCCGCCATGTCCATGGGTCAGCTGTCCTCCCCCTCCCGCTGCACACCCTCGCGGCACTGCAGTTTTTCTTATTTGCAGTTCTTCCTATCACCTCTGCATGAAAATGCTCTCCCACTCCCTGGGCCCACTGCCTCTCATTTCTCATCCGTAATATTAAATCCTGTTTATTTCTCCTTGGGTCTTCCTTCTTTCACCACCAGTCAGGAAAGAAGGAAGGGTAGCTTTCAGGAAGCTGTGGGACCCCGTGGCCCAGGCCACATCTTACAAACCCCAGGAGGGGCAGGACAGAGCTCCCAGCCGAGTCCCTGCTGCCCCGGCCTCCTGCCAGGCTCCTCCCAGCTCCTGGTGTGGGAATGGGCTCAGGACAAGGCCTACTCTGTCCCACTGAAGCCCTACCCGTGGGGTCCCTGGGCTTTGAGGCTTGGGGCTGAAGGCCCGGGAGCCTGCTGGAGACATGGTGACGGCTGCACAGACTGCCATTCTGTTGGTTGTTCTGGCCTGGGTTCCAAAGGGCCAGAAGCCTTCACCTTTGAGGGCTCATCTTTCTCTGACTGCTCGAGGGGACCTGGTGTTCCCCCTGCTTTCTCTCTTGTGCTTCTGATGAGGCTGCGTCAGCTTTCCAAGGAGCTGGAGAGGGAGGAACCCCATCCGGGGACCCACAGGGAGGTTCACGCCTGGGGCTGGACGGGGCGTCGTGGCGTGCAGATCTGGAGGTTGCGGAAGGAAGGACAGCAGGCTGGTCGCTCTGCGGGCTCCGCTGCTTCCTCACGGGGCCGCAATTCGCTTTCAGTACACGGAAGGAGACGGCGAGGGTGAGACCTATTACTACGAATACCCCTACTACGAAGACCCGAAGACCTAGGGAAGGAGCCCACCCCCAGCAAGAAGCCCGTGGAAGCTGCCAAAGAAACCACAGAGGTCCCCGAGGTCTGGGCTGAGCGGGGGACTGGGTTGGGCTGGGCCCCTCGAGGCCATGGTGCAGGGGAGGGCGAGGCCAGGAGAGGTTGTGTCAGGGTAGAGGGTTGGGGGCTGTCTGGTGAAGGTTGCGGGGGCAGCTCAGTGAGGGAGCCGGCTGTTGCCATCCGAGCTTTGCTGTCACGGGGCGTATCGGGCTTTCCGCAGTGAGGAGGACGTTGGGAGATGCCAAGTATACAGGGGAGCATCTGCCAGCATCTCTGGGCCCTGGCCCCGGTCCCCACCCTGTACGAGGCACAGGGCTCTAGCAGGCCCAGGATGAGTTTGGTTCTCGGGTTCCTTAAGTGTGGGTGCAGCTGTGGTGGGAGAGGAGAGAGGAGAGCTCAGGGGCTCCCCCGGGGGGTGACGCAGTCTGAGGTCGGCCTCGGGTCCTCCCCGCTCTGGGCTGTCATCCCCTCACCTCTGAAATTGGGGAGGGTTGTGAGGGTGCGTGAGCGGCAGTGAGAGCCGGAGGGTCACACCTAGCAGGGCCCGGGCCCCGTGCAGGAGTGTGTATGGGTGGGTGTCCTCCTGGGGAGGAGGCTGTCCAGCCTCAGAGCCATTGTCAGAGGTAAAGAGGGTGGGGTGTGAGCATGGGCGGTGTGTGTGTGTGCATGAACGAGTGTGTGTGAGCATGTGGCATGCAGGCACGGGTGTGCTTGAGCCTGCGTGTGTGTGAGAGTGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGTATCCTTCCAGGGAAAGGTGACCTGGTCATCTCACATTGCTCTGAGAGCCTGGAGTGTTTTGCTACTTTTGTTTTTTAAATACTGAGATATGATTCACCCTTTTCTGGTGTGTAACTGGGTGGGTTTGAGTCCATTCTGAGCACGCTTAGTAACTGGGGGCTTGCAGCTGGGCTGCCTTCTTCCCACTTGCTCTGCCCCCAAGCCCCATGGATGGGGGCGGCCCCTGCACCCAAGAGGTCTCTGGGCCTCTTGACAGGCCTGGGCTCCAGGCGTTGCCACTGAGATGCCTGCACCCGGACATGCGGCAAGTCCCAGACCTGGCACCACTGCCGGCCTCCGCCCTGACTCCAGCTGTCTCTGTCCTTGGCTCCCAGGAGCTGACCCCGACCCCCACGGAAGCTGCTCCCATGCCTGAAACCAGTGAAGGGGCTGGGAAGGAAGAGGACGTCGGCATCGGGGACTATGACTACGTGCCCAGTGAGGACTACTACACGCCCTCACCGTATGATGACCTCACCTATGGCGAGGGGGAGGAGAACCCCGACCAGCCCACAGACCCAGGCGCTGGGGCCGAAATTCCCACCAGCACCGCCGACACCTCCAACTCCTCCAATGTAATTTCTTTCCTTCCCATTGGTTTGGTCTGGGGCAGTGGGCCAAGGGCCAGGGCTGGGGCCACAATGCTGAGCTCCCTTCTTACTCCAGTTCTCACCTTGGTGTCCTCGGGTGGCCCCTGTGTTCCACCACACCCTGGCCCTGGGCCCTTTGCAGCTGGGTGGCGTAATACTTCCCAGGGGAGGCCATTGCTGAACAAGTTTGGAATCCCTGGTTTGCTGAGTTCATCTCAATGTTGTCAATTTTTTGCCTGGAAAATGGGTAGAATGACCCTAGCCCTTCCGGTCTTTGAGGATTCAN | pathogenic | 153,848 |
Does the variant on chromosome 9 at location 134732063 affecting gene COL5A1 (collagen type V alpha 1 chain) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | TGGGGGCTTGCAGCTGGGCTGCCTTCTTCCCACTTGCTCTGCCCCCAAGCCCCATGGATGGGGGCGGCCCCTGCACCCAAGAGGTCTCTGGGCCTCTTGACAGGCCTGGGCTCCAGGCGTTGCCACTGAGATGCCTGCACCCGGACATGCGGCAAGTCCCAGACCTGGCACCACTGCCGGCCTCCGCCCTGACTCCAGCTGTCTCTGTCCTTGGCTCCCAGGAGCTGACCCCGACCCCCACGGAAGCTGCTCCCATGCCTGAAACCAGTGAAGGGGCTGGGAAGGAAGAGGACGTCGGCATCGGGGACTATGACTACGTGCCCAGTGAGGACTACTACACGCCCTCACCGTATGATGACCTCACCTATGGCGAGGGGGAGGAGAACCCCGACCAGCCCACAGACCCAGGCGCTGGGGCCGAAATTCCCACCAGCACCGCCGACACCTCCAACTCCTCCAATGTAATTTCTTTCCTTCCCATTGGTTTGGTCTGGGGCAGTGGGCCAAGGGCCAGGGCTGGGGCCACAATGCTGAGCTCCCTTCTTACTCCAGTTCTCACCTTGGTGTCCTCGGGTGGCCCCTGTGTTCCACCACACCCTGGCCCTGGGCCCTTTGCAGCTGGGTGGCGTAATACTTCCCAGGGGAGGCCATTGCTGAACAAGTTTGGAATCCCTGGTTTGCTGAGTTCATCTCAATGTTGTCAATTTTTTGCCTGGAAAATGGGTAGAATGACCCTAGCCCTTCCGGTCTTTGAGGATTCAGGTGGAAATTGGATGAGGAGGGGGGTGGCTTGTGGACAGAGTCCCTGCCTGTGGCCTGGGTGTGGCCAGGCAGGATGGGGCTGGGAGCCAGGATCCAGACAAATACAGCGAAGCAGGAGCTGGGGCCGCCCTGGCTGGGACGGGGGCTGACTGTCAGCAGACAGGCCTGAAAGCTCTGCCCGAGACCTTGGAAAGTTAGTCTGCGTCTCTGGACCTCGCGGTTCTCCTTTCCAACATGGCACTGACAGTTCCTGTCTCTGGGGGCTGTGAAGTTTTCAGATTCAGGAGGAGCCTTGCGTAGTGTGTAGCACATGGCCGATGCTTAACATAGCCACTGTGTGATGCAGAATCTCCACTGCCAGAGAGGACACCTCGTTCCAGCAGGTCCAGACCCCTGCGTCTGCAGCACCGCCCTGGGATGCATTATCGCAAGACCCTGGGGCTGTGGGGTGCAGCCCCTGCCTGAGCGGGTGCACGGGTGTGCCAGCTCCATGGTGTGCCAGCTCCGAGTTGTCAGACCTGGAGCCCTCAGAGGAGGTCTCTCCCAGAGGGGGGTCTCTGCCCAGTTGACCGGGTAGCCATGGTGCCAGCACAGGGCCTGATGGATCTGGGATCTCTGCCCAGTTGACCGGATAGCCACAGTGCCCGCCCAGGGCCTGATGGAGAGGCAGTGCCTGGTGCGTTTGCGAGGCAACCCTGCGCCTTCCTCTCCCTCTGCAGCCAGCTCCGCCTCCAGGGGAAGGTGCGGATGACTTGGAGGGGGAGTTCACTGAGGAAACGATCCGGAACCTTGACGAGAACTACTACGACCCCTACTACGACCCCACCAGCTCCCCGTCGGAGATCGGGCCGGGAATGCCGGCGAACCAGGATACCATCTATGAAGGGGTGAGAGGGTGCAGGCCCCCGTTCCGGGTGGGGTTGGGGGGCTGGTGGGGCATCATGGGGGCTCCTGCCCAAGAGCCTCCTCAGGGGTGGGCCTCTACGGGCAGCTCAAGTGTTACACCCTATTCCCAAAACTTTATTTTTAAAGAGACCTCGGTGCCTCGAATTTGCTCTGAATAACGTGTGTATCGGAGCATACTCTCCTCTGGGCCTGTTTCTTCGTTAGTAGTCACATGGGCTCCCGTGGGCCTGGCCTCTGTCACGCTCCTGCCATCCTCCTGGGCCTGGGGAGATGCCCAGCTACGATAGTGCCCTCGGCCTTGCGAAATCGGGCAGATTTTGTGTAATCTGGACTTTCTTTCTCACTTTTCTCTCTGATTCTCTTTCCATCTGCCTTTTATCACCCCCAGATTGGAGGACCTCGGGGCGAGAAAGGCCAAAAGGGAGAACCAGCGATTATCGAGCCGGTGAGGACATTTTCTCATTCCCTCCCTGCGCCGGGGTGTCCGCTGCTCGGGGTCACAGCGGGGTGTGTAGGGTGTGAACAGGTCCGTGGGCCCCTGCACCTGCGCGCACTGGGTCACTTCGAGCAACCACCTGGTCTCGTGGAGTCCACGCACCACTTGTCCCCAGGACTTGTGAAGAATCCCCTTGGGTAGGGGATGTTCTGGACTGTGATGGAGGGGGCGGGATAGGTGCTGATCAAAGCCGGTCCTGCACCCAAGCTCTGGGCATCTCAGTGCTGGTCAGTTTCACCTGGGATGAAAAGCAGCTCAGAGCTATCGAGGCGGAGGCGGAGTCCCCTTTGAGGGGTGGAGGAGAGGATGTAAATGGCCCATTCCGTGTAAAAGATGCGCGCGGCAGTGGTAGGGAATAGTTAACACGTGGTCGTACCTCTCTGCGTCTGTTATGCAACCGTTTGGAGTAAGTTTACAGAAGCTGTTGAAACATGGAATACTGTTTATGAAACTTTATCAAGGGAATGAAATAAAACAGCACTGTGCTGAAATTCCAGCTGAGTAAAACCCAACTATGTTAGGTAATGAGATCACGGGTGAGTTCAAAAAGTTACTGTTGATAATGCCCTCAAGCGTGGGACTGTAGCGAGGACGTTCTAGATGCCCCTCCTGGTTGGCGCGTTTGGTGGGGGCCCTGCCCCATACTGGGGTGTCCTTGTCCCATAGGGGGCCATGGCCTGGCTGGGAGGCCTCCAGTTCTCCCTGGGGTCTCAGAGCCACTAAGGTCTTGATGCCCCGCCCCGCCGCCGGCAGGCAGGATGCCCTGTGATCAGCTGGGCAGGGAGTCCTGCCGCTGCATGTGGTGGGCACGACCGGAGAGCAGGGAGGAGCCAGCACCAAGGCCCACCCTGCCATGTTGTCCAAGTGCCCACAGGAGGAGGTGTGCGTCCTGCACCACGGCCAGTCATGAGGCTGGGGGCAGCTGTTTGTTCTGCCGCCAGGACTCAGTTCCTGAGGGCTGAGCTCAGGATACACCTTGGGTCTCCCAGAAGCCCCCTGACCTTGCAGTTCCCAGAATGTGCAGTCACAGTGACCCGCCACCCTACTGTAGAGCTGGGGACATTCTCTTGGAACCTTGACGGATGGCACTTAGCAGGCCTTTATACCCCTGGAATCTCTTTGAAGCCCGTGGCCAGGGCAGACGGGATGTGTCCCATCTCTGGGGTGGAATTCCCAGGGTCCAGGGCTTCACCCCTTCCTGGCCTATGGAAGCGTCTGGATGGCTCTTGTGGGGCTCTATGCCCTTGCTCCAGGCCCAACCCAGGGGTGGGACCTGCCGGTGCCTACAGACACATCCTTTTCTCGGACCCCCTTTCCAGTGCTCTCTGGGGGTCCAGGGAAGACAGAGCTTGTCTGAGGCAGAAGGGTCATGGGCTGCAGGGCAAAGGGGTGCAGAGGCATGAAAGGAGACTCTGAGGCCAGGATCCCCCTGCTCAGCATTGTGGAAAACCTCAGAGCCAGGCCTGGGCTCAGGGACCAGAGCAGCTGTGGGGGAGAGTGACTGCCGTCCGCCTGGGCGGACTCACCCAGAAGCAGGGGGCTGCGGGCCTGTTCTGCTCTGCCCAAGGGTGTTTGCCAGAAGGTGAACAACAGCAGAGGCTACATCCAAGGTCCCAGCCCCAAGCTACACTTGTTATTGAGAGGTGGGACATCCGGTTGCATTTCCCCAGACTTGGCCCCCAGGTAGACTTGAGGTTGGCCTTGGGCTTCTTTTGTGCTGTCCCCATTGCTTCAGTGAAAGGGGGTCCTTGCTCGGGGAGGAAGATGGGATCTCAGGGTGGGCAGGTGCCCCTGGCTCTGCAGGATCCCAGTTCGGTTTCCCCTCCCCGCTCTGGGAGGGCCGGACTGAAACCTTTGAATGAGCTTCGTGTTGGCTCATGTTCCCGAGTAAGCTGGCTCTGTGAGTGTAGACGTGGTGTCTGGGCTCCAGGA | TGGGGGCTTGCAGCTGGGCTGCCTTCTTCCCACTTGCTCTGCCCCCAAGCCCCATGGATGGGGGCGGCCCCTGCACCCAAGAGGTCTCTGGGCCTCTTGACAGGCCTGGGCTCCAGGCGTTGCCACTGAGATGCCTGCACCCGGACATGCGGCAAGTCCCAGACCTGGCACCACTGCCGGCCTCCGCCCTGACTCCAGCTGTCTCTGTCCTTGGCTCCCAGGAGCTGACCCCGACCCCCACGGAAGCTGCTCCCATGCCTGAAACCAGTGAAGGGGCTGGGAAGGAAGAGGACGTCGGCATCGGGGACTATGACTACGTGCCCAGTGAGGACTACTACACGCCCTCACCGTATGATGACCTCACCTATGGCGAGGGGGAGGAGAACCCCGACCAGCCCACAGACCCAGGCGCTGGGGCCGAAATTCCCACCAGCACCGCCGACACCTCCAACTCCTCCAATGTAATTTCTTTCCTTCCCATTGGTTTGGTCTGGGGCAGTGGGCCAAGGGCCAGGGCTGGGGCCACAATGCTGAGCTCCCTTCTTACTCCAGTTCTCACCTTGGTGTCCTCGGGTGGCCCCTGTGTTCCACCACACCCTGGCCCTGGGCCCTTTGCAGCTGGGTGGCGTAATACTTCCCAGGGGAGGCCATTGCTGAACAAGTTTGGAATCCCTGGTTTGCTGAGTTCATCTCAATGTTGTCAATTTTTTGCCTGGAAAATGGGTAGAATGACCCTAGCCCTTCCGGTCTTTGAGGATTCAGGTGGAAATTGGATGAGGAGGGGGGTGGCTTGTGGACAGAGTCCCTGCCTGTGGCCTGGGTGTGGCCAGGCAGGATGGGGCTGGGAGCCAGGATCCAGACAAATACAGCGAAGCAGGAGCTGGGGCCGCCCTGGCTGGGACGGGGGCTGACTGTCAGCAGACAGGCCTGAAAGCTCTGCCCGAGACCTTGGAAAGTTAGTCTGCGTCTCTGGACCTCGCGGTTCTCCTTTCCAACATGGCACTGACAGTTCCTGTCTCTGGGGGCTGTGAAGTTTTCAGATTCAGGAGGAGCCTTGCGTAGTGTGTAGCACATGGCCGATGCTTAACATAGCCACTGTGTGATGCAGAATCTCCACTGCCAGAGAGGACACCTCGTTCCAGCAGGTCCAGACCCCTGCGTCTGCAGCACCGCCCTGGGATGCATTATCGCAAGACCCTGGGGCTGTGGGGTGCAGCCCCTGCCTGAGCGGGTGCACGGGTGTGCCAGCTCCATGGTGTGCCAGCTCCGAGTTGTCAGACCTGGAGCCCTCAGAGGAGGTCTCTCCCAGAGGGGGGTCTCTGCCCAGTTGACCGGGTAGCCATGGTGCCAGCACAGGGCCTGATGGATCTGGGATCTCTGCCCAGTTGACCGGATAGCCACAGTGCCCGCCCAGGGCCTGATGGAGAGGCAGTGCCTGGTGCGTTTGCGAGGCAACCCTGCGCCTTCCTCTCCCTCTGCAGCCAGCTCCGCCTCCAGGGGAAGGTGCGGATGACTTGGAGGGGGAGTTCACTGAGGAAACGATCCGGAACCTTGACGAGAACTACTACGACCCCTACTACGACCCCACCAGCTCCCCGTCGGAGATCGGGCCGGGAATGCCGGCGAACCAGGATACCATCTATGAAGGGGTGAGAGGGTGCAGGCCCCCGTTCCGGGTGGGGTTGGGGGGCTGGTGGGGCATCATGGGGGCTCCTGCCCAAGAGCCTCCTCAGGGGTGGGCCTCTACGGGCAGCTCAAGTGTTACACCCTATTCCCAAAACTTTATTTTTAAAGAGACCTCGGTGCCTCGAATTTGCTCTGAATAACGTGTGTATCGGAGCATACTCTCCTCTGGGCCTGTTTCTTCGTTAGTAGTCACATGGGCTCCCGTGGGCCTGGCCTCTGTCACGCTCCTGCCATCCTCCTGGGCCTGGGGAGATGCCCAGCTACGATAGTGCCCTCGGCCTTGCGAAATCGGGCAGATTTTGTGTAATCTGGACTTTCTTTCTCACTTTTCTCTCTGATTCTCTTTCCATCTGCCTTTTATCACCCCCCAGATTGGAGGACCTCGGGGCGAGAAAGGCCAAAAGGGAGAACCAGCGATTATCGAGCCGGTGAGGACATTTTCTCATTCCCTCCCTGCGCCGGGGTGTCCGCTGCTCGGGGTCACAGCGGGGTGTGTAGGGTGTGAACAGGTCCGTGGGCCCCTGCACCTGCGCGCACTGGGTCACTTCGAGCAACCACCTGGTCTCGTGGAGTCCACGCACCACTTGTCCCCAGGACTTGTGAAGAATCCCCTTGGGTAGGGGATGTTCTGGACTGTGATGGAGGGGGCGGGATAGGTGCTGATCAAAGCCGGTCCTGCACCCAAGCTCTGGGCATCTCAGTGCTGGTCAGTTTCACCTGGGATGAAAAGCAGCTCAGAGCTATCGAGGCGGAGGCGGAGTCCCCTTTGAGGGGTGGAGGAGAGGATGTAAATGGCCCATTCCGTGTAAAAGATGCGCGCGGCAGTGGTAGGGAATAGTTAACACGTGGTCGTACCTCTCTGCGTCTGTTATGCAACCGTTTGGAGTAAGTTTACAGAAGCTGTTGAAACATGGAATACTGTTTATGAAACTTTATCAAGGGAATGAAATAAAACAGCACTGTGCTGAAATTCCAGCTGAGTAAAACCCAACTATGTTAGGTAATGAGATCACGGGTGAGTTCAAAAAGTTACTGTTGATAATGCCCTCAAGCGTGGGACTGTAGCGAGGACGTTCTAGATGCCCCTCCTGGTTGGCGCGTTTGGTGGGGGCCCTGCCCCATACTGGGGTGTCCTTGTCCCATAGGGGGCCATGGCCTGGCTGGGAGGCCTCCAGTTCTCCCTGGGGTCTCAGAGCCACTAAGGTCTTGATGCCCCGCCCCGCCGCCGGCAGGCAGGATGCCCTGTGATCAGCTGGGCAGGGAGTCCTGCCGCTGCATGTGGTGGGCACGACCGGAGAGCAGGGAGGAGCCAGCACCAAGGCCCACCCTGCCATGTTGTCCAAGTGCCCACAGGAGGAGGTGTGCGTCCTGCACCACGGCCAGTCATGAGGCTGGGGGCAGCTGTTTGTTCTGCCGCCAGGACTCAGTTCCTGAGGGCTGAGCTCAGGATACACCTTGGGTCTCCCAGAAGCCCCCTGACCTTGCAGTTCCCAGAATGTGCAGTCACAGTGACCCGCCACCCTACTGTAGAGCTGGGGACATTCTCTTGGAACCTTGACGGATGGCACTTAGCAGGCCTTTATACCCCTGGAATCTCTTTGAAGCCCGTGGCCAGGGCAGACGGGATGTGTCCCATCTCTGGGGTGGAATTCCCAGGGTCCAGGGCTTCACCCCTTCCTGGCCTATGGAAGCGTCTGGATGGCTCTTGTGGGGCTCTATGCCCTTGCTCCAGGCCCAACCCAGGGGTGGGACCTGCCGGTGCCTACAGACACATCCTTTTCTCGGACCCCCTTTCCAGTGCTCTCTGGGGGTCCAGGGAAGACAGAGCTTGTCTGAGGCAGAAGGGTCATGGGCTGCAGGGCAAAGGGGTGCAGAGGCATGAAAGGAGACTCTGAGGCCAGGATCCCCCTGCTCAGCATTGTGGAAAACCTCAGAGCCAGGCCTGGGCTCAGGGACCAGAGCAGCTGTGGGGGAGAGTGACTGCCGTCCGCCTGGGCGGACTCACCCAGAAGCAGGGGGCTGCGGGCCTGTTCTGCTCTGCCCAAGGGTGTTTGCCAGAAGGTGAACAACAGCAGAGGCTACATCCAAGGTCCCAGCCCCAAGCTACACTTGTTATTGAGAGGTGGGACATCCGGTTGCATTTCCCCAGACTTGGCCCCCAGGTAGACTTGAGGTTGGCCTTGGGCTTCTTTTGTGCTGTCCCCATTGCTTCAGTGAAAGGGGGTCCTTGCTCGGGGAGGAAGATGGGATCTCAGGGTGGGCAGGTGCCCCTGGCTCTGCAGGATCCCAGTTCGGTTTCCCCTCCCCGCTCTGGGAGGGCCGGACTGAAACCTTTGAATGAGCTTCGTGTTGGCTCATGTTCCCGAGTAAGCTGGCTCTGTGAGTGTAGACGTGGTGTCTGGGCTCCAGG | benign | 153,908 |
Is the genetic variant on chromosome 9, position 134732098, gene COL5A1 (collagen type V alpha 1 chain), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Ehlers-Danlos_syndrome,_classic_type,_1'] | GCTCTGCCCCCAAGCCCCATGGATGGGGGCGGCCCCTGCACCCAAGAGGTCTCTGGGCCTCTTGACAGGCCTGGGCTCCAGGCGTTGCCACTGAGATGCCTGCACCCGGACATGCGGCAAGTCCCAGACCTGGCACCACTGCCGGCCTCCGCCCTGACTCCAGCTGTCTCTGTCCTTGGCTCCCAGGAGCTGACCCCGACCCCCACGGAAGCTGCTCCCATGCCTGAAACCAGTGAAGGGGCTGGGAAGGAAGAGGACGTCGGCATCGGGGACTATGACTACGTGCCCAGTGAGGACTACTACACGCCCTCACCGTATGATGACCTCACCTATGGCGAGGGGGAGGAGAACCCCGACCAGCCCACAGACCCAGGCGCTGGGGCCGAAATTCCCACCAGCACCGCCGACACCTCCAACTCCTCCAATGTAATTTCTTTCCTTCCCATTGGTTTGGTCTGGGGCAGTGGGCCAAGGGCCAGGGCTGGGGCCACAATGCTGAGCTCCCTTCTTACTCCAGTTCTCACCTTGGTGTCCTCGGGTGGCCCCTGTGTTCCACCACACCCTGGCCCTGGGCCCTTTGCAGCTGGGTGGCGTAATACTTCCCAGGGGAGGCCATTGCTGAACAAGTTTGGAATCCCTGGTTTGCTGAGTTCATCTCAATGTTGTCAATTTTTTGCCTGGAAAATGGGTAGAATGACCCTAGCCCTTCCGGTCTTTGAGGATTCAGGTGGAAATTGGATGAGGAGGGGGGTGGCTTGTGGACAGAGTCCCTGCCTGTGGCCTGGGTGTGGCCAGGCAGGATGGGGCTGGGAGCCAGGATCCAGACAAATACAGCGAAGCAGGAGCTGGGGCCGCCCTGGCTGGGACGGGGGCTGACTGTCAGCAGACAGGCCTGAAAGCTCTGCCCGAGACCTTGGAAAGTTAGTCTGCGTCTCTGGACCTCGCGGTTCTCCTTTCCAACATGGCACTGACAGTTCCTGTCTCTGGGGGCTGTGAAGTTTTCAGATTCAGGAGGAGCCTTGCGTAGTGTGTAGCACATGGCCGATGCTTAACATAGCCACTGTGTGATGCAGAATCTCCACTGCCAGAGAGGACACCTCGTTCCAGCAGGTCCAGACCCCTGCGTCTGCAGCACCGCCCTGGGATGCATTATCGCAAGACCCTGGGGCTGTGGGGTGCAGCCCCTGCCTGAGCGGGTGCACGGGTGTGCCAGCTCCATGGTGTGCCAGCTCCGAGTTGTCAGACCTGGAGCCCTCAGAGGAGGTCTCTCCCAGAGGGGGGTCTCTGCCCAGTTGACCGGGTAGCCATGGTGCCAGCACAGGGCCTGATGGATCTGGGATCTCTGCCCAGTTGACCGGATAGCCACAGTGCCCGCCCAGGGCCTGATGGAGAGGCAGTGCCTGGTGCGTTTGCGAGGCAACCCTGCGCCTTCCTCTCCCTCTGCAGCCAGCTCCGCCTCCAGGGGAAGGTGCGGATGACTTGGAGGGGGAGTTCACTGAGGAAACGATCCGGAACCTTGACGAGAACTACTACGACCCCTACTACGACCCCACCAGCTCCCCGTCGGAGATCGGGCCGGGAATGCCGGCGAACCAGGATACCATCTATGAAGGGGTGAGAGGGTGCAGGCCCCCGTTCCGGGTGGGGTTGGGGGGCTGGTGGGGCATCATGGGGGCTCCTGCCCAAGAGCCTCCTCAGGGGTGGGCCTCTACGGGCAGCTCAAGTGTTACACCCTATTCCCAAAACTTTATTTTTAAAGAGACCTCGGTGCCTCGAATTTGCTCTGAATAACGTGTGTATCGGAGCATACTCTCCTCTGGGCCTGTTTCTTCGTTAGTAGTCACATGGGCTCCCGTGGGCCTGGCCTCTGTCACGCTCCTGCCATCCTCCTGGGCCTGGGGAGATGCCCAGCTACGATAGTGCCCTCGGCCTTGCGAAATCGGGCAGATTTTGTGTAATCTGGACTTTCTTTCTCACTTTTCTCTCTGATTCTCTTTCCATCTGCCTTTTATCACCCCCAGATTGGAGGACCTCGGGGCGAGAAAGGCCAAAAGGGAGAACCAGCGATTATCGAGCCGGTGAGGACATTTTCTCATTCCCTCCCTGCGCCGGGGTGTCCGCTGCTCGGGGTCACAGCGGGGTGTGTAGGGTGTGAACAGGTCCGTGGGCCCCTGCACCTGCGCGCACTGGGTCACTTCGAGCAACCACCTGGTCTCGTGGAGTCCACGCACCACTTGTCCCCAGGACTTGTGAAGAATCCCCTTGGGTAGGGGATGTTCTGGACTGTGATGGAGGGGGCGGGATAGGTGCTGATCAAAGCCGGTCCTGCACCCAAGCTCTGGGCATCTCAGTGCTGGTCAGTTTCACCTGGGATGAAAAGCAGCTCAGAGCTATCGAGGCGGAGGCGGAGTCCCCTTTGAGGGGTGGAGGAGAGGATGTAAATGGCCCATTCCGTGTAAAAGATGCGCGCGGCAGTGGTAGGGAATAGTTAACACGTGGTCGTACCTCTCTGCGTCTGTTATGCAACCGTTTGGAGTAAGTTTACAGAAGCTGTTGAAACATGGAATACTGTTTATGAAACTTTATCAAGGGAATGAAATAAAACAGCACTGTGCTGAAATTCCAGCTGAGTAAAACCCAACTATGTTAGGTAATGAGATCACGGGTGAGTTCAAAAAGTTACTGTTGATAATGCCCTCAAGCGTGGGACTGTAGCGAGGACGTTCTAGATGCCCCTCCTGGTTGGCGCGTTTGGTGGGGGCCCTGCCCCATACTGGGGTGTCCTTGTCCCATAGGGGGCCATGGCCTGGCTGGGAGGCCTCCAGTTCTCCCTGGGGTCTCAGAGCCACTAAGGTCTTGATGCCCCGCCCCGCCGCCGGCAGGCAGGATGCCCTGTGATCAGCTGGGCAGGGAGTCCTGCCGCTGCATGTGGTGGGCACGACCGGAGAGCAGGGAGGAGCCAGCACCAAGGCCCACCCTGCCATGTTGTCCAAGTGCCCACAGGAGGAGGTGTGCGTCCTGCACCACGGCCAGTCATGAGGCTGGGGGCAGCTGTTTGTTCTGCCGCCAGGACTCAGTTCCTGAGGGCTGAGCTCAGGATACACCTTGGGTCTCCCAGAAGCCCCCTGACCTTGCAGTTCCCAGAATGTGCAGTCACAGTGACCCGCCACCCTACTGTAGAGCTGGGGACATTCTCTTGGAACCTTGACGGATGGCACTTAGCAGGCCTTTATACCCCTGGAATCTCTTTGAAGCCCGTGGCCAGGGCAGACGGGATGTGTCCCATCTCTGGGGTGGAATTCCCAGGGTCCAGGGCTTCACCCCTTCCTGGCCTATGGAAGCGTCTGGATGGCTCTTGTGGGGCTCTATGCCCTTGCTCCAGGCCCAACCCAGGGGTGGGACCTGCCGGTGCCTACAGACACATCCTTTTCTCGGACCCCCTTTCCAGTGCTCTCTGGGGGTCCAGGGAAGACAGAGCTTGTCTGAGGCAGAAGGGTCATGGGCTGCAGGGCAAAGGGGTGCAGAGGCATGAAAGGAGACTCTGAGGCCAGGATCCCCCTGCTCAGCATTGTGGAAAACCTCAGAGCCAGGCCTGGGCTCAGGGACCAGAGCAGCTGTGGGGGAGAGTGACTGCCGTCCGCCTGGGCGGACTCACCCAGAAGCAGGGGGCTGCGGGCCTGTTCTGCTCTGCCCAAGGGTGTTTGCCAGAAGGTGAACAACAGCAGAGGCTACATCCAAGGTCCCAGCCCCAAGCTACACTTGTTATTGAGAGGTGGGACATCCGGTTGCATTTCCCCAGACTTGGCCCCCAGGTAGACTTGAGGTTGGCCTTGGGCTTCTTTTGTGCTGTCCCCATTGCTTCAGTGAAAGGGGGTCCTTGCTCGGGGAGGAAGATGGGATCTCAGGGTGGGCAGGTGCCCCTGGCTCTGCAGGATCCCAGTTCGGTTTCCCCTCCCCGCTCTGGGAGGGCCGGACTGAAACCTTTGAATGAGCTTCGTGTTGGCTCATGTTCCCGAGTAAGCTGGCTCTGTGAGTGTAGACGTGGTGTCTGGGCTCCAGGAGGGGGTTGGGAGTGTGGGGTGGGCACAGGTTTTCC | GCTCTGCCCCCAAGCCCCATGGATGGGGGCGGCCCCTGCACCCAAGAGGTCTCTGGGCCTCTTGACAGGCCTGGGCTCCAGGCGTTGCCACTGAGATGCCTGCACCCGGACATGCGGCAAGTCCCAGACCTGGCACCACTGCCGGCCTCCGCCCTGACTCCAGCTGTCTCTGTCCTTGGCTCCCAGGAGCTGACCCCGACCCCCACGGAAGCTGCTCCCATGCCTGAAACCAGTGAAGGGGCTGGGAAGGAAGAGGACGTCGGCATCGGGGACTATGACTACGTGCCCAGTGAGGACTACTACACGCCCTCACCGTATGATGACCTCACCTATGGCGAGGGGGAGGAGAACCCCGACCAGCCCACAGACCCAGGCGCTGGGGCCGAAATTCCCACCAGCACCGCCGACACCTCCAACTCCTCCAATGTAATTTCTTTCCTTCCCATTGGTTTGGTCTGGGGCAGTGGGCCAAGGGCCAGGGCTGGGGCCACAATGCTGAGCTCCCTTCTTACTCCAGTTCTCACCTTGGTGTCCTCGGGTGGCCCCTGTGTTCCACCACACCCTGGCCCTGGGCCCTTTGCAGCTGGGTGGCGTAATACTTCCCAGGGGAGGCCATTGCTGAACAAGTTTGGAATCCCTGGTTTGCTGAGTTCATCTCAATGTTGTCAATTTTTTGCCTGGAAAATGGGTAGAATGACCCTAGCCCTTCCGGTCTTTGAGGATTCAGGTGGAAATTGGATGAGGAGGGGGGTGGCTTGTGGACAGAGTCCCTGCCTGTGGCCTGGGTGTGGCCAGGCAGGATGGGGCTGGGAGCCAGGATCCAGACAAATACAGCGAAGCAGGAGCTGGGGCCGCCCTGGCTGGGACGGGGGCTGACTGTCAGCAGACAGGCCTGAAAGCTCTGCCCGAGACCTTGGAAAGTTAGTCTGCGTCTCTGGACCTCGCGGTTCTCCTTTCCAACATGGCACTGACAGTTCCTGTCTCTGGGGGCTGTGAAGTTTTCAGATTCAGGAGGAGCCTTGCGTAGTGTGTAGCACATGGCCGATGCTTAACATAGCCACTGTGTGATGCAGAATCTCCACTGCCAGAGAGGACACCTCGTTCCAGCAGGTCCAGACCCCTGCGTCTGCAGCACCGCCCTGGGATGCATTATCGCAAGACCCTGGGGCTGTGGGGTGCAGCCCCTGCCTGAGCGGGTGCACGGGTGTGCCAGCTCCATGGTGTGCCAGCTCCGAGTTGTCAGACCTGGAGCCCTCAGAGGAGGTCTCTCCCAGAGGGGGGTCTCTGCCCAGTTGACCGGGTAGCCATGGTGCCAGCACAGGGCCTGATGGATCTGGGATCTCTGCCCAGTTGACCGGATAGCCACAGTGCCCGCCCAGGGCCTGATGGAGAGGCAGTGCCTGGTGCGTTTGCGAGGCAACCCTGCGCCTTCCTCTCCCTCTGCAGCCAGCTCCGCCTCCAGGGGAAGGTGCGGATGACTTGGAGGGGGAGTTCACTGAGGAAACGATCCGGAACCTTGACGAGAACTACTACGACCCCTACTACGACCCCACCAGCTCCCCGTCGGAGATCGGGCCGGGAATGCCGGCGAACCAGGATACCATCTATGAAGGGGTGAGAGGGTGCAGGCCCCCGTTCCGGGTGGGGTTGGGGGGCTGGTGGGGCATCATGGGGGCTCCTGCCCAAGAGCCTCCTCAGGGGTGGGCCTCTACGGGCAGCTCAAGTGTTACACCCTATTCCCAAAACTTTATTTTTAAAGAGACCTCGGTGCCTCGAATTTGCTCTGAATAACGTGTGTATCGGAGCATACTCTCCTCTGGGCCTGTTTCTTCGTTAGTAGTCACATGGGCTCCCGTGGGCCTGGCCTCTGTCACGCTCCTGCCATCCTCCTGGGCCTGGGGAGATGCCCAGCTACGATAGTGCCCTCGGCCTTGCGAAATCGGGCAGATTTTGTGTAATCTGGACTTTCTTTCTCACTTTTCTCTCTGATTCTCTTTCCATCTGCCTTTTATCACCCCCAGATTGGAGGACCTCGGGGCGAGAAAGGCCAAAGGGAGAACCAGCGATTATCGAGCCGGTGAGGACATTTTCTCATTCCCTCCCTGCGCCGGGGTGTCCGCTGCTCGGGGTCACAGCGGGGTGTGTAGGGTGTGAACAGGTCCGTGGGCCCCTGCACCTGCGCGCACTGGGTCACTTCGAGCAACCACCTGGTCTCGTGGAGTCCACGCACCACTTGTCCCCAGGACTTGTGAAGAATCCCCTTGGGTAGGGGATGTTCTGGACTGTGATGGAGGGGGCGGGATAGGTGCTGATCAAAGCCGGTCCTGCACCCAAGCTCTGGGCATCTCAGTGCTGGTCAGTTTCACCTGGGATGAAAAGCAGCTCAGAGCTATCGAGGCGGAGGCGGAGTCCCCTTTGAGGGGTGGAGGAGAGGATGTAAATGGCCCATTCCGTGTAAAAGATGCGCGCGGCAGTGGTAGGGAATAGTTAACACGTGGTCGTACCTCTCTGCGTCTGTTATGCAACCGTTTGGAGTAAGTTTACAGAAGCTGTTGAAACATGGAATACTGTTTATGAAACTTTATCAAGGGAATGAAATAAAACAGCACTGTGCTGAAATTCCAGCTGAGTAAAACCCAACTATGTTAGGTAATGAGATCACGGGTGAGTTCAAAAAGTTACTGTTGATAATGCCCTCAAGCGTGGGACTGTAGCGAGGACGTTCTAGATGCCCCTCCTGGTTGGCGCGTTTGGTGGGGGCCCTGCCCCATACTGGGGTGTCCTTGTCCCATAGGGGGCCATGGCCTGGCTGGGAGGCCTCCAGTTCTCCCTGGGGTCTCAGAGCCACTAAGGTCTTGATGCCCCGCCCCGCCGCCGGCAGGCAGGATGCCCTGTGATCAGCTGGGCAGGGAGTCCTGCCGCTGCATGTGGTGGGCACGACCGGAGAGCAGGGAGGAGCCAGCACCAAGGCCCACCCTGCCATGTTGTCCAAGTGCCCACAGGAGGAGGTGTGCGTCCTGCACCACGGCCAGTCATGAGGCTGGGGGCAGCTGTTTGTTCTGCCGCCAGGACTCAGTTCCTGAGGGCTGAGCTCAGGATACACCTTGGGTCTCCCAGAAGCCCCCTGACCTTGCAGTTCCCAGAATGTGCAGTCACAGTGACCCGCCACCCTACTGTAGAGCTGGGGACATTCTCTTGGAACCTTGACGGATGGCACTTAGCAGGCCTTTATACCCCTGGAATCTCTTTGAAGCCCGTGGCCAGGGCAGACGGGATGTGTCCCATCTCTGGGGTGGAATTCCCAGGGTCCAGGGCTTCACCCCTTCCTGGCCTATGGAAGCGTCTGGATGGCTCTTGTGGGGCTCTATGCCCTTGCTCCAGGCCCAACCCAGGGGTGGGACCTGCCGGTGCCTACAGACACATCCTTTTCTCGGACCCCCTTTCCAGTGCTCTCTGGGGGTCCAGGGAAGACAGAGCTTGTCTGAGGCAGAAGGGTCATGGGCTGCAGGGCAAAGGGGTGCAGAGGCATGAAAGGAGACTCTGAGGCCAGGATCCCCCTGCTCAGCATTGTGGAAAACCTCAGAGCCAGGCCTGGGCTCAGGGACCAGAGCAGCTGTGGGGGAGAGTGACTGCCGTCCGCCTGGGCGGACTCACCCAGAAGCAGGGGGCTGCGGGCCTGTTCTGCTCTGCCCAAGGGTGTTTGCCAGAAGGTGAACAACAGCAGAGGCTACATCCAAGGTCCCAGCCCCAAGCTACACTTGTTATTGAGAGGTGGGACATCCGGTTGCATTTCCCCAGACTTGGCCCCCAGGTAGACTTGAGGTTGGCCTTGGGCTTCTTTTGTGCTGTCCCCATTGCTTCAGTGAAAGGGGGTCCTTGCTCGGGGAGGAAGATGGGATCTCAGGGTGGGCAGGTGCCCCTGGCTCTGCAGGATCCCAGTTCGGTTTCCCCTCCCCGCTCTGGGAGGGCCGGACTGAAACCTTTGAATGAGCTTCGTGTTGGCTCATGTTCCCGAGTAAGCTGGCTCTGTGAGTGTAGACGTGGTGTCTGGGCTCCAGGAGGGGGTTGGGAGTGTGGGGTGGGCACAGGTTTTCCN | pathogenic | 153,910 |
Benign or pathogenic: chromosome 9, position 134738455, gene COL5A1 (collagen type V alpha 1 chain) variant? Disease(s) if pathogenic? | benign | CCTGTCATCAAGAGCCCACTCCCACCCTAACGAGCCCGCTCCCATCGTAGCTGCATTCACCCATCCAGGAAGGCAGAGCCTGGTGACCTAATCACCTCCTGAAGATCCCACCTCTCAACACGGTTGCATTGAGGATTCAGTTTCCAACACATGACTTTTGGGGAGACACATTCAAACCCTAGCACATTCTGTCCCAGCCCCCAAATTCATGTCCTTCTCACATACAGTTTACATTCACTCCATCCGGTACCCACATCATCTCAAAAGTTCGAAGTCCAGAGTCTCACCCAAATCAGGTACTGATGAGACTTAGGCTCAAATTATCTATCTTGAAGCAAATCCCTGTCCAGCTGTGAGCTTGGGGAATGAAACAAGCCTCATGCTTCCAAACTACATGGTGATGGGGAGGGGGACAGGTTCCCATTCCAAAAGAGAAGCATGAAGAAAGGGGTAGCAGCCCCGAGGAAGTTCAAAACCCCACAGGACGAACCTTTCTAGAATAATCTTTCACTTGGTGTGCCACCTCCTGGGCACACTGGAGGGAGGCGGCCCCAGGGCCTCAGGCAGCACTGCTCATACAGCTTTGCACAGCAGGTCTCAGGAGTTGGAGCCTCGTCCTTGCTGCCCTCCCAGGCTGGCGCTGTATGCTGGTGACGCTACAGTCCTGGGGTCTCAATGGTGCCTCCACTTCCATAGATCCACCAGGCGTCATCCCAGGGAACTCTCTGCAGAGCCTCTGCCCCTGTGGCTGGTTTCTGCACGGGACCCCAGGCTGTCCATGCCACACTTTGACCTCTACGTGGAGGGCGCCATGGCCGCAGTTCCTGCCTTCCTTCCCTGCAGCTGCAGGATAATCAGTACCCATGGGTGTCGCCGAGGCCACACCCACACCCTCCAGAGCTGAGCCAGAGCTGCCCCTGGGCCTGCTGGAGCCTTGGCTGGGCGGCTGACGGGTGCTGTGTCGCAACGTGGGGAGCAGACACTTGAGGGGTGCAGGGCAGGGAATGCTGAGTTCCTGGGTACCTCTTTGAAAATGTGGTCCCCCAGGTCCTAGCTTGCCTCAAAGATCTCTGGCTGCCTCGGGGTCATTCTCCATTGTCTTGTTGAGTAGCACCTGGTTCCCATCTGTCAGAGCAAGTCCCTTGAGGAACAGTCGCCCTGAAGTCGTCATGGAACACGGAGGACTCTTGGGGCATTGGGGGTGCCTGACCCTGGCGTTGCCAGGTCAGAAGTGGAGAGAGGAATCCCGCCCTGGGGAAGGGGTCGGAAGTGGGGGTCTCAGGGCAGGGAGCCCCGTCCTGCAGGGAGCCGCTCCCACTGCTGCCTTCACAGCTGTCCACATTGCCTTTCCCAGGGCTCAGGCTGACCCAAGAGCCAGGAGGCCCTGTCCCCATTGGGGTTAGAGTGAGGCCTGGGTGTGCTTGAGGCAGATGGGCCCTGTGGTGAGGTGAGGGCCAGAGGAGGAGGGCTGAGTGGGCAGGTGGACATGGCAGGGTTTCCCATGGGTTCTGGGCTGCTGCGTGCATGGGAGGATGCACCTCTTACCTGGAGGGAGGCGGGGTCTGGAGGTTGCAGCCCTGGGGCCTGACGGTGGTCCTGGCTGGGGACAGAAGTTCAGCCTGGAGCTGGGGCACCTATTTTTCCCTTATCCTTCCCAAATCCACCCGAGTCCCCTTGTCCTGGCATCCACCTCCTCCCTCGAGTGGCTTTGGCCTGGCGGACCTGCCTGGCACTCCCCTTTGGGGTGATGCAGGGAGCCTGGCGGTCTCGGCTCCTTTTCCTCATCTCGGCGTCTTCAGGTGCTTCTCGTGGCGCTGGTCTTGCGGGAGCCTGTGTCTGTCACTGGCCGCTGGCCCGGGTTGCTCTTCTGCCAGCGAGTGCCAGGAGGACAGCCACTGAGGCCCCACCACAGGCCCCCTTTGCAGTCTGTGCTCGTGACTCCCCAGGACAGCAGGAGCTGAGCCAGGGCCTCTTGTGCATGCAGCTGAAGGCCGTCCACACCACTGGGGTCTGGGGTGTCGGGAGGGATGGGCTGCGGTCTCAGACGCCCTCTCTCTGTCTCCCCAGGGCATGCTCATCGAGGGCCCGCCTGGCCCAGAAGGCCCCGCGGTGAGTATCCGGCTTTATCCTGTGACTTGCAGAAGGTGCTCTTGGTGGGGTGGGGTTGGTGACACCCCTTATGTCTCCTGGATGGAAAAGAGGGGGGCTCTCCGCTTTTGCAGATCCCCTGGGAGCCGGCGCTATCCCACCCCCACCTCTGCCTTGGTTGGCCAGTTGGAACTTGGACCTTGCCCTGCGGCCCCATCTTCTAACTGCCCCAACTTTATTTTTAATTCTAGGGTCTTCCCGGACCTCCAGGAACCATGGGTCCCACTGGCCAAGTCGGGGACCCTGGAGAAAGGGTAAGAGGTTGACTGTGTTTCCTGAGATCACACAAGGTGTGGGGCTGCCCACGCCTCCTCTCCACACTGTGACCCGAGCTGTCCCTGCCTGTGGAGGTGACCCAGAGGCTTGTGTCTTCAAATCCCCCCTCACCCAGGCACTCCTCACACCAGCCCCGTTCAGATGTTTCTGGGGCTGAACTGTGGCTATGGGGAGAGTGGGGCCCCTCGGGGCCCAGGGAGCCTGCCAGTGCTCAGCCCAGACGGTGGCCTCAGGACCCTGCAGTTGCCCAGCAAACGGCCGCAGCAGCAGTAACCACAGCAGATGGCTCCGGGGCCTTTCCCACTCCTCGCCCCTGGGCAGCCACACCACGTGGAATTGGCCACCCCCCTTGCTGGGTTTGGGAACTTCCTTGGTCTGGGTTGCACCTGGCTCACAGGCTCAGAGGCATCCTCGGGTGTCCCTCGCCGCGGGAGGAGATGGAGGGAGAGCTGCTCCCTGGCTGCCGCGATTTCCTTCTGACACCTGGTGGGCGCTCCAAGTACTGCGGCCTCCTGGTGTCCGGCGGGGCGGGAGTTTTCTCTTCCTGCTGTTGGAATGAATGTGGATTTGAGTGCAGAAGGACTAAGAACTGATTCCTGGACAGCTGGCTTGTGGGTGGGAGAAACAAGGGCTGCGTGCGGGTGTTCGCGGGTGTTCACGCCAGGGCCCTGCCTGCTGTCCGGGGCAGAGTGAGGACCCTGTGGGTGTTGTGGTGGGTGGATGCAGGGCAGGGTCTGGTCGTGTGAGAAGGTGGTTCGTGATGTCAGAGCGCAGTGGCTAGGGATGCTTCCCAGGTTACTGCACGGGGAGGCGTTTGGGGAGTGTCTTGTGCAGTGCCTGGTGGCTTTGCAGCAGTGCTCAGGAAAGGCGGGCCAGGGCGCAGGACAGTAAGTCCTGGCCTTGGACCTGGAGGTTCTTACAGGTGCTCAGTACCCCTGGAAAGCTGGGGAGGGGCAGGACAGGTGAGGTCAGGCAGCAGGATGCAGGGGCAGGCGGCGGCAGCCTTCTTGGGAGCAAGAGCCGAGCCAGTGGGGATGCTTGCTTGGGGAGGAGATGGGAGCACTGAGGCCGGCCTTTGGAGGAGAAGGATTCAGGTCAGCTATGCGGGAGGAGGTTGTTATCGTTCTGTGTGGCTGGGTGACCTCTGAGGGCAGTACGCATCAGATTGGGCCACACAGTAAGATTCTCTGCCACGTTGCTTTTCACGGTCAGGGATTTGGAGGTCCAGAAGAGGCGGGTCTTGCTCCATGGCAAGGGCCGTGGCGGGAAACAGAGTGGGGTGGGGGCTTGGCTGGCCTCTGGAGCACAAAGCTTTCACAGCATCCCCGGCCTGGCAGCCACATTTCCAAAACTCCAGACAGGCAACAGCGAGTGGCCGCTGCTCTTGCCCAGCCAGCACCGGCCAAAACTCCAGACAGGCAACAGCGAGTGGCCGCTGCTCTTACCCAGCCAGGACCGGCATGGCTGGAGCTCTGTGCTGGGGGCTGCAGCCACCCCAGCTCGCTCTGGAGACCCCTTCCCCCAGATTCGCGTGAGATGGGGCAACGGCCAAGCTCCTCCTCCGCAGAGCTGCCTGCGGATGGGTCCACAGGTGTGGCTGGGTTCGTATGCAAAGGAGAGTGCATTGCATGGCACTGGGAGCTGTTTTCTCTCCCAGATGTAGGACAGGGTG | CCTGTCATCAAGAGCCCACTCCCACCCTAACGAGCCCGCTCCCATCGTAGCTGCATTCACCCATCCAGGAAGGCAGAGCCTGGTGACCTAATCACCTCCTGAAGATCCCACCTCTCAACACGGTTGCATTGAGGATTCAGTTTCCAACACATGACTTTTGGGGAGACACATTCAAACCCTAGCACATTCTGTCCCAGCCCCCAAATTCATGTCCTTCTCACATACAGTTTACATTCACTCCATCCGGTACCCACATCATCTCAAAAGTTCGAAGTCCAGAGTCTCACCCAAATCAGGTACTGATGAGACTTAGGCTCAAATTATCTATCTTGAAGCAAATCCCTGTCCAGCTGTGAGCTTGGGGAATGAAACAAGCCTCATGCTTCCAAACTACATGGTGATGGGGAGGGGGACAGGTTCCCATTCCAAAAGAGAAGCATGAAGAAAGGGGTAGCAGCCCCGAGGAAGTTCAAAACCCCACAGGACGAACCTTTCTAGAATAATCTTTCACTTGGTGTGCCACCTCCTGGGCACACTGGAGGGAGGCGGCCCCAGGGCCTCAGGCAGCACTGCTCATACAGCTTTGCACAGCAGGTCTCAGGAGTTGGAGCCTCGTCCTTGCTGCCCTCCCAGGCTGGCGCTGTATGCTGGTGACGCTACAGTCCTGGGGTCTCAATGGTGCCTCCACTTCCATAGATCCACCAGGCGTCATCCCAGGGAACTCTCTGCAGAGCCTCTGCCCCTGTGGCTGGTTTCTGCACGGGACCCCAGGCTGTCCATGCCACACTTTGACCTCTACGTGGAGGGCGCCATGGCCGCAGTTCCTGCCTTCCTTCCCTGCAGCTGCAGGATAATCAGTACCCATGGGTGTCGCCGAGGCCACACCCACACCCTCCAGAGCTGAGCCAGAGCTGCCCCTGGGCCTGCTGGAGCCTTGGCTGGGCGGCTGACGGGTGCTGTGTCGCAACGTGGGGAGCAGACACTTGAGGGGTGCAGGGCAGGGAATGCTGAGTTCCTGGGTACCTCTTTGAAAATGTGGTCCCCCAGGTCCTAGCTTGCCTCAAAGATCTCTGGCTGCCTCGGGGTCATTCTCCATTGTCTTGTTGAGTAGCACCTGGTTCCCATCTGTCAGAGCAAGTCCCTTGAGGAACAGTCGCCCTGAAGTCGTCATGGAACACGGAGGACTCTTGGGGCATTGGGGGTGCCTGACCCTGGCGTTGCCAGGTCAGAAGTGGAGAGAGGAATCCCGCCCTGGGGAAGGGGTCGGAAGTGGGGGTCTCAGGGCAGGGAGCCCCGTCCTGCAGGGAGCCGCTCCCACTGCTGCCTTCACAGCTGTCCACATTGCCTTTCCCAGGGCTCAGGCTGACCCAAGAGCCAGGAGGCCCTGTCCCCATTGGGGTTAGAGTGAGGCCTGGGTGTGCTTGAGGCAGATGGGCCCTGTGGTGAGGTGAGGGCCAGAGGAGGAGGGCTGAGTGGGCAGGTGGACATGGCAGGGTTTCCCATGGGTTCTGGGCTGCTGCGTGCATGGGAGGATGCACCTCTTACCTGGAGGGAGGCGGGGTCTGGAGGTTGCAGCCCTGGGGCCTGACGGTGGTCCTGGCTGGGGACAGAAGTTCAGCCTGGAGCTGGGGCACCTATTTTTCCCTTATCCTTCCCAAATCCACCCGAGTCCCCTTGTCCTGGCATCCACCTCCTCCCTCGAGTGGCTTTGGCCTGGCGGACCTGCCTGGCACTCCCCTTTGGGGTGATGCAGGGAGCCTGGCGGTCTCGGCTCCTTTTCCTCATCTCGGCGTCTTCAGGTGCTTCTCGTGGCGCTGGTCTTGCGGGAGCCTGTGTCTGTCACTGGCCGCTGGCCCGGGTTGCTCTTCTGCCAGCGAGTGCCAGGAGGACAGCCACTGAGGCCCCACCACAGGCCCCCTTTGCAGTCTGTGCTCGTGACTCCCCAGGACAGCAGGAGCTGAGCCAGGGCCTCTTGTGCATGCAGCTGAAGGCCGTCCACACCACTGGGGTCTGGGGTGTCGGGAGGGATGGGCTGCGGTCTCAGACGCCCTCTCTGTCTCCCCAGGGCATGCTCATCGAGGGCCCGCCTGGCCCAGAAGGCCCCGCGGTGAGTATCCGGCTTTATCCTGTGACTTGCAGAAGGTGCTCTTGGTGGGGTGGGGTTGGTGACACCCCTTATGTCTCCTGGATGGAAAAGAGGGGGGCTCTCCGCTTTTGCAGATCCCCTGGGAGCCGGCGCTATCCCACCCCCACCTCTGCCTTGGTTGGCCAGTTGGAACTTGGACCTTGCCCTGCGGCCCCATCTTCTAACTGCCCCAACTTTATTTTTAATTCTAGGGTCTTCCCGGACCTCCAGGAACCATGGGTCCCACTGGCCAAGTCGGGGACCCTGGAGAAAGGGTAAGAGGTTGACTGTGTTTCCTGAGATCACACAAGGTGTGGGGCTGCCCACGCCTCCTCTCCACACTGTGACCCGAGCTGTCCCTGCCTGTGGAGGTGACCCAGAGGCTTGTGTCTTCAAATCCCCCCTCACCCAGGCACTCCTCACACCAGCCCCGTTCAGATGTTTCTGGGGCTGAACTGTGGCTATGGGGAGAGTGGGGCCCCTCGGGGCCCAGGGAGCCTGCCAGTGCTCAGCCCAGACGGTGGCCTCAGGACCCTGCAGTTGCCCAGCAAACGGCCGCAGCAGCAGTAACCACAGCAGATGGCTCCGGGGCCTTTCCCACTCCTCGCCCCTGGGCAGCCACACCACGTGGAATTGGCCACCCCCCTTGCTGGGTTTGGGAACTTCCTTGGTCTGGGTTGCACCTGGCTCACAGGCTCAGAGGCATCCTCGGGTGTCCCTCGCCGCGGGAGGAGATGGAGGGAGAGCTGCTCCCTGGCTGCCGCGATTTCCTTCTGACACCTGGTGGGCGCTCCAAGTACTGCGGCCTCCTGGTGTCCGGCGGGGCGGGAGTTTTCTCTTCCTGCTGTTGGAATGAATGTGGATTTGAGTGCAGAAGGACTAAGAACTGATTCCTGGACAGCTGGCTTGTGGGTGGGAGAAACAAGGGCTGCGTGCGGGTGTTCGCGGGTGTTCACGCCAGGGCCCTGCCTGCTGTCCGGGGCAGAGTGAGGACCCTGTGGGTGTTGTGGTGGGTGGATGCAGGGCAGGGTCTGGTCGTGTGAGAAGGTGGTTCGTGATGTCAGAGCGCAGTGGCTAGGGATGCTTCCCAGGTTACTGCACGGGGAGGCGTTTGGGGAGTGTCTTGTGCAGTGCCTGGTGGCTTTGCAGCAGTGCTCAGGAAAGGCGGGCCAGGGCGCAGGACAGTAAGTCCTGGCCTTGGACCTGGAGGTTCTTACAGGTGCTCAGTACCCCTGGAAAGCTGGGGAGGGGCAGGACAGGTGAGGTCAGGCAGCAGGATGCAGGGGCAGGCGGCGGCAGCCTTCTTGGGAGCAAGAGCCGAGCCAGTGGGGATGCTTGCTTGGGGAGGAGATGGGAGCACTGAGGCCGGCCTTTGGAGGAGAAGGATTCAGGTCAGCTATGCGGGAGGAGGTTGTTATCGTTCTGTGTGGCTGGGTGACCTCTGAGGGCAGTACGCATCAGATTGGGCCACACAGTAAGATTCTCTGCCACGTTGCTTTTCACGGTCAGGGATTTGGAGGTCCAGAAGAGGCGGGTCTTGCTCCATGGCAAGGGCCGTGGCGGGAAACAGAGTGGGGTGGGGGCTTGGCTGGCCTCTGGAGCACAAAGCTTTCACAGCATCCCCGGCCTGGCAGCCACATTTCCAAAACTCCAGACAGGCAACAGCGAGTGGCCGCTGCTCTTGCCCAGCCAGCACCGGCCAAAACTCCAGACAGGCAACAGCGAGTGGCCGCTGCTCTTACCCAGCCAGGACCGGCATGGCTGGAGCTCTGTGCTGGGGGCTGCAGCCACCCCAGCTCGCTCTGGAGACCCCTTCCCCCAGATTCGCGTGAGATGGGGCAACGGCCAAGCTCCTCCTCCGCAGAGCTGCCTGCGGATGGGTCCACAGGTGTGGCTGGGTTCGTATGCAAAGGAGAGTGCATTGCATGGCACTGGGAGCTGTTTTCTCTCCCAGATGTAGGACAGGGTGNN | benign | 153,914 |
Gene COL5A1 (collagen type V alpha 1 chain) variant at chromosome position 134750543 on chromosome 9: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Ehlers-Danlos_syndrome,_classic_type,_1'] | GGTTTGGTTTGGAATTGATTCCGACACAGGAATCTCAGCTGTAAGTGGCTATGAGGATTGTATGTCAATGACAAAACCTGGGCGGCAAACATGTTTTGGATCTTTATTTTTTAAACACGATTTTTGTCTTCTGAGAGTGTTTTCCAAAATGGCAGTTGGGAGCAATTGGGCAGTATCCATTAGCAATTCAGAAATATACACATATATACATTCTTTGACCCAGCAGCACTGCTTTGAGGGACTTACCTAGTAGAATATGTTAGCACGTCTGTCGGGCAGTGTTTGTCATAATGCAAACTGGAACCAATCCAACGTGCATCGGCAGAAGACGGGTTAAATAAACAAGGAGTCCATTGTGCCTGGGAGATGCAACAGATGTTGCCAAGGATATCTACAGAGACAGGCCATGATTTCAAGAGCAAATTGCAGAATATTTAGGGACAGTATCATTAAAAAGAAAGAGACTGGGCGCGGTGGCTTATGCCTGTAATCCCAGCATTTTCGGAGCCCGAGGCGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGGTGGTGAAACCCCGTCTCTACTAAATATACAAAAGTTAGCCCACGCTGGTGTGGACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAGAATTGCTTGAACCGGGGAGGCGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAAAACAAAAAAAACAAAACTCCGAAGCCACACAGCCTCATAGTGATGAATGTGTTAGTTAGTGTGTCCAGCATGTGCGTCTTCATCTTTGCCTTTGCACTTACAGAACTTGAGCACTGGTTACATCCGGAGATGAAAAGGGACCTTTCACTTTCACTGTATAAATGTGTACCTTAAGCCATTTCACAAGAAATGGAGTTACTTCTGCAACAAAAAGCAACCAGTAAAGACAAGGCAGGCAAGTTTAGGTTCAGGCCCAGATGGCTCCACAGCCTTCTGGATAGTTCCAGAAAAACCACTCAGGTTCTTGGTCTTTCTGTCTGGGAGTTGGGAATCCATCATGGGTTTCCTGGCAGGGAGCGTCTCACTCAGGTGGTGTGAACACACATGCTCAGTGTAGCTGTTGCTGATTCGGAAGACTGCAGCCAGCACCCATCCGCTACACTGGAGTGTAACTGGAGTGTAGTTGGTGGAGGCTTTTCTCACTGGGGAGAGGGGGTTAAGCTCCAGTCTCTATGCAAGACAAGCCTCATCTACTTTAGGCCAGCTGAGAATCTGCTTGCTTTTGTGAAATAGCTTTGTGATCAAATATTATTTTGAAAATAAATCATCTTACTGGTTTTACATGCGTATAGTGGTCTGAAGCTGGCTGGAATTGGTCTAGAGAATCCAGTCCTAGGTATGTCTGTGTGGCCAGGTTGGCTGGGCGTGAGGAGGGCACTGTGTCGTTTACATATAAGTGGGTTCTTGAAGTTGCTGTGGCTGAGTGTGTGCTCTGCTGTGTTGCGTGTCCATCCACGCAAGTGGCTGCTCCATCCCGTCTTCCATCTGAGCAGGCACAGGCGGCTCGCTCGGAGCCCATTAAGGACAAGTGCCCACTGGGCACAGGAGGCACTGGGCCTTGAGCCTGGAGTCTTTGTTTCCTGTTGGGTATGGAGACCTAAAAGGGGCGTTCCTGGAGCGACAAGAGCCTGACACTGCCTCCTCACCTTCGGGCTCCTTGTCTCTGCCTTGAGGCCCCAGAGGACGCCTGCTGGGTCTCTGGATTTCTCTATATCCAGCTCAGACCTCCCTCCCTTCTTATCCCTCCCTCCAAAGCCTTTCCGATCCTCAGCCCACAGCCGTGCCCCTCCCTTCTCCGGGTGGGGGTTTCTGAAACATTCCTGCCACGGGGTCTCACAGCTTCTGTGCGTGTCCAGTGCATTTCCCGGGTGGGCCGCTTCTCCGACGCCCTCATTCTCGCTGCAGCCCAGCCCTGGCCTGGTTGCACTCTGACTTGTCTCTCTTGGCCCCTTGTCTTCAGGGCCCCCCTGGACGCCCAGGCCTTCCTGGGGCCGATGGCCTGCCCGGTCCTCCAGGAACCATGCTCATGCTGCCCGTGAGTACCCTTATCAGTCGGAGGTGGGGAGGCAGCTGGGGCAGGTGGGATCCAAACCAGACCCTCTGAGGCTGCGCTGTCACTGGAGAGGCCTGTGGGCCCCGTCTCAGTCTGTGGTCTTGCCTGGGTGCCACGTCACTGCTCCCAGAGTGACCCTTGTCTTACACTTGCAGTTCCGGTTTGGAGGTGGCGGCGATGCGGGCTCCAAAGGCCCCATGGTCTCAGCCCAGGAGTCCCAGGCGCAAGCCATTCTCCAGCAGGCCAGGGTGAGTACTGCTGGGTCCCAAGAGGCCTGAAGGGGACAGAGCCCAGCCCCAGGGGCCAACAGGAGTGAGTGAGTCAGGCTCAGAGCCCAACTTGGAGGGAAGCAGCTGTCTTGATCCCAGAATGCCTGCTTGCTGGGGTCAGGAGCTGTGGGAGCGTCCAGTCCTCAGTGTCCAGTAGGGACCCCGAGAGCATGTCAGTGTCCAGTAGGGGCTCTGAGAGCATGTCAGTGTCCAGTAGGGGCCCCGAGAGCGTGTCACTGTCCAGTAGGGACCCCGAGAGCGTGTCACTGTCCAGTAGGGACCCCGAGAGCGTGTCACTGTCCAGTAGGGACCCCGAGAGCGTGTCACTGTCCAGTAGGGACCCCGAGATCATGGGGACTGTTTGGGGAGTTTCTCAGCAGTTCTTTGTCCATGCTGAGGGTCCGGGTTCTAACTTTACAAGGGGCTTCTGGGCCCCTCCACCTCTGACCCAGTAGGCCCACCTTCCACCGTTGGTGACCTTTGCCTCTGTGCTAGGCCCTCTGCTGGGATCCAGAAGTGGAGCCGGAAACCCACGTGGCTCCTGGAAGGGGCTGCCTGGGCTGGAGCTGGGCTCCTCTGGGAGAGAGCCCTTGGGCCCCAGAGCCCCTCACTCTCAGCCTGGGGGGTCCTAAGGAGCAGGGTCCGCAGAGGAGCACTTGCCTCCCTATTGTGAAGTAGCTCATTAGTGGCCTGTGTTTTCTGTAGACTTGGCTCCGGATTGCTGATTGCCCACGATAGGTGTAAACACTGCCCCGTGGGGCGGGTGGGTGGGTGGGTAATCCTCCAGCGGAGTGCAAGAAAGCTGCTAAGTAATCCCTTGTTTGAGAAATATTTATGCAGCTCCCACAGCAGCCAGAGTAGATGTTAATGATCAGAGTGCTTAGGTAATTACAGGACAGTGTAAGCACAGAGTCGTTACCATGGAGCAAATTGCCTGAATGATGGAAGGTGGTGTGTAGCAAACCCCACTACCTGCCACTGGGTTTATGGGCTTGGGCCTGCCTGGCTGGCCTTTTATCTTGTGTATTTTAATTGAAGCTAAATGGATGATAGGCTATAAGATTTTATAATGCAAAACAAAATATTCTAAAATTCAGATGGCATCTGCCAGGGAAACAGAGTCACTTGGCAGCTGCAGAAGCGGCTCTGTGGGAAAGCGGTGGGCCCTGCACTGGTGCAGGTGGGGGCCACATGCAGAGGGGGCAGGTGGGTTCCTACCCTCCCAAAATACTTCCCCAGTGGCTGGGAGTGCTTGAAGCGCCTCCCATGTGAAATAAAATATGTCATGACTCAGCTTGAGCTCAGGTGTAAAATGTACTCCCTATGCCCAGAGTAAGAGGCTTATTTCTGACCTAGCCAAGGGTGATGGGCTGGGAGCAGGCCCTCTCTGTGTGGGCTAGAGAGACAGGAAGGAGGGATGGGGCCTATCCCCCAAGGGAGGAAACGGGGGCCCACTGGCTTGCACCTCTGCATGTCCCACGTCACTCCCGTGGATGCTGAGAGCCCCATCGAAGTCGGGGGGGGGGGGCCCTTGGGGAGTCATCAGACCTCCTTTTCCAGAGTCTCCTGTCCCTCCTCTGTCCAGTCTGCCCGTTCCCTCCTGCCACATCTCACGGCTCAGGCGCCAGCAAACCGGAGCACTGCTGCTGGGGCCCTGTCTCAGCGTGTCTCACTTTCCTTTGCAGTT | GGTTTGGTTTGGAATTGATTCCGACACAGGAATCTCAGCTGTAAGTGGCTATGAGGATTGTATGTCAATGACAAAACCTGGGCGGCAAACATGTTTTGGATCTTTATTTTTTAAACACGATTTTTGTCTTCTGAGAGTGTTTTCCAAAATGGCAGTTGGGAGCAATTGGGCAGTATCCATTAGCAATTCAGAAATATACACATATATACATTCTTTGACCCAGCAGCACTGCTTTGAGGGACTTACCTAGTAGAATATGTTAGCACGTCTGTCGGGCAGTGTTTGTCATAATGCAAACTGGAACCAATCCAACGTGCATCGGCAGAAGACGGGTTAAATAAACAAGGAGTCCATTGTGCCTGGGAGATGCAACAGATGTTGCCAAGGATATCTACAGAGACAGGCCATGATTTCAAGAGCAAATTGCAGAATATTTAGGGACAGTATCATTAAAAAGAAAGAGACTGGGCGCGGTGGCTTATGCCTGTAATCCCAGCATTTTCGGAGCCCGAGGCGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGGTGGTGAAACCCCGTCTCTACTAAATATACAAAAGTTAGCCCACGCTGGTGTGGACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAGAATTGCTTGAACCGGGGAGGCGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAAAACAAAAAAAACAAAACTCCGAAGCCACACAGCCTCATAGTGATGAATGTGTTAGTTAGTGTGTCCAGCATGTGCGTCTTCATCTTTGCCTTTGCACTTACAGAACTTGAGCACTGGTTACATCCGGAGATGAAAAGGGACCTTTCACTTTCACTGTATAAATGTGTACCTTAAGCCATTTCACAAGAAATGGAGTTACTTCTGCAACAAAAAGCAACCAGTAAAGACAAGGCAGGCAAGTTTAGGTTCAGGCCCAGATGGCTCCACAGCCTTCTGGATAGTTCCAGAAAAACCACTCAGGTTCTTGGTCTTTCTGTCTGGGAGTTGGGAATCCATCATGGGTTTCCTGGCAGGGAGCGTCTCACTCAGGTGGTGTGAACACACATGCTCAGTGTAGCTGTTGCTGATTCGGAAGACTGCAGCCAGCACCCATCCGCTACACTGGAGTGTAACTGGAGTGTAGTTGGTGGAGGCTTTTCTCACTGGGGAGAGGGGGTTAAGCTCCAGTCTCTATGCAAGACAAGCCTCATCTACTTTAGGCCAGCTGAGAATCTGCTTGCTTTTGTGAAATAGCTTTGTGATCAAATATTATTTTGAAAATAAATCATCTTACTGGTTTTACATGCGTATAGTGGTCTGAAGCTGGCTGGAATTGGTCTAGAGAATCCAGTCCTAGGTATGTCTGTGTGGCCAGGTTGGCTGGGCGTGAGGAGGGCACTGTGTCGTTTACATATAAGTGGGTTCTTGAAGTTGCTGTGGCTGAGTGTGTGCTCTGCTGTGTTGCGTGTCCATCCACGCAAGTGGCTGCTCCATCCCGTCTTCCATCTGAGCAGGCACAGGCGGCTCGCTCGGAGCCCATTAAGGACAAGTGCCCACTGGGCACAGGAGGCACTGGGCCTTGAGCCTGGAGTCTTTGTTTCCTGTTGGGTATGGAGACCTAAAAGGGGCGTTCCTGGAGCGACAAGAGCCTGACACTGCCTCCTCACCTTCGGGCTCCTTGTCTCTGCCTTGAGGCCCCAGAGGACGCCTGCTGGGTCTCTGGATTTCTCTATATCCAGCTCAGACCTCCCTCCCTTCTTATCCCTCCCTCCAAAGCCTTTCCGATCCTCAGCCCACAGCCGTGCCCCTCCCTTCTCCGGGTGGGGGTTTCTGAAACATTCCTGCCACGGGGTCTCACAGCTTCTGTGCGTGTCCAGTGCATTTCCCGGGTGGGCCGCTTCTCCGACGCCCTCATTCTCGCTGCAGCCCAGCCCTGGCCTGGTTGCACTCTGACTTGTCTCTCTTGGCCCCTTGTCTTCAGGGCCCCCTGGACGCCCAGGCCTTCCTGGGGCCGATGGCCTGCCCGGTCCTCCAGGAACCATGCTCATGCTGCCCGTGAGTACCCTTATCAGTCGGAGGTGGGGAGGCAGCTGGGGCAGGTGGGATCCAAACCAGACCCTCTGAGGCTGCGCTGTCACTGGAGAGGCCTGTGGGCCCCGTCTCAGTCTGTGGTCTTGCCTGGGTGCCACGTCACTGCTCCCAGAGTGACCCTTGTCTTACACTTGCAGTTCCGGTTTGGAGGTGGCGGCGATGCGGGCTCCAAAGGCCCCATGGTCTCAGCCCAGGAGTCCCAGGCGCAAGCCATTCTCCAGCAGGCCAGGGTGAGTACTGCTGGGTCCCAAGAGGCCTGAAGGGGACAGAGCCCAGCCCCAGGGGCCAACAGGAGTGAGTGAGTCAGGCTCAGAGCCCAACTTGGAGGGAAGCAGCTGTCTTGATCCCAGAATGCCTGCTTGCTGGGGTCAGGAGCTGTGGGAGCGTCCAGTCCTCAGTGTCCAGTAGGGACCCCGAGAGCATGTCAGTGTCCAGTAGGGGCTCTGAGAGCATGTCAGTGTCCAGTAGGGGCCCCGAGAGCGTGTCACTGTCCAGTAGGGACCCCGAGAGCGTGTCACTGTCCAGTAGGGACCCCGAGAGCGTGTCACTGTCCAGTAGGGACCCCGAGAGCGTGTCACTGTCCAGTAGGGACCCCGAGATCATGGGGACTGTTTGGGGAGTTTCTCAGCAGTTCTTTGTCCATGCTGAGGGTCCGGGTTCTAACTTTACAAGGGGCTTCTGGGCCCCTCCACCTCTGACCCAGTAGGCCCACCTTCCACCGTTGGTGACCTTTGCCTCTGTGCTAGGCCCTCTGCTGGGATCCAGAAGTGGAGCCGGAAACCCACGTGGCTCCTGGAAGGGGCTGCCTGGGCTGGAGCTGGGCTCCTCTGGGAGAGAGCCCTTGGGCCCCAGAGCCCCTCACTCTCAGCCTGGGGGGTCCTAAGGAGCAGGGTCCGCAGAGGAGCACTTGCCTCCCTATTGTGAAGTAGCTCATTAGTGGCCTGTGTTTTCTGTAGACTTGGCTCCGGATTGCTGATTGCCCACGATAGGTGTAAACACTGCCCCGTGGGGCGGGTGGGTGGGTGGGTAATCCTCCAGCGGAGTGCAAGAAAGCTGCTAAGTAATCCCTTGTTTGAGAAATATTTATGCAGCTCCCACAGCAGCCAGAGTAGATGTTAATGATCAGAGTGCTTAGGTAATTACAGGACAGTGTAAGCACAGAGTCGTTACCATGGAGCAAATTGCCTGAATGATGGAAGGTGGTGTGTAGCAAACCCCACTACCTGCCACTGGGTTTATGGGCTTGGGCCTGCCTGGCTGGCCTTTTATCTTGTGTATTTTAATTGAAGCTAAATGGATGATAGGCTATAAGATTTTATAATGCAAAACAAAATATTCTAAAATTCAGATGGCATCTGCCAGGGAAACAGAGTCACTTGGCAGCTGCAGAAGCGGCTCTGTGGGAAAGCGGTGGGCCCTGCACTGGTGCAGGTGGGGGCCACATGCAGAGGGGGCAGGTGGGTTCCTACCCTCCCAAAATACTTCCCCAGTGGCTGGGAGTGCTTGAAGCGCCTCCCATGTGAAATAAAATATGTCATGACTCAGCTTGAGCTCAGGTGTAAAATGTACTCCCTATGCCCAGAGTAAGAGGCTTATTTCTGACCTAGCCAAGGGTGATGGGCTGGGAGCAGGCCCTCTCTGTGTGGGCTAGAGAGACAGGAAGGAGGGATGGGGCCTATCCCCCAAGGGAGGAAACGGGGGCCCACTGGCTTGCACCTCTGCATGTCCCACGTCACTCCCGTGGATGCTGAGAGCCCCATCGAAGTCGGGGGGGGGGGGCCCTTGGGGAGTCATCAGACCTCCTTTTCCAGAGTCTCCTGTCCCTCCTCTGTCCAGTCTGCCCGTTCCCTCCTGCCACATCTCACGGCTCAGGCGCCAGCAAACCGGAGCACTGCTGCTGGGGCCCTGTCTCAGCGTGTCTCACTTTCCTTTGCAGTTN | pathogenic | 153,930 |
Variant at chromosome position 134750549, chromosome 9, gene COL5A1 (collagen type V alpha 1 chain): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Ehlers-Danlos_syndrome,_classic_type,_1'] | GTTTGGAATTGATTCCGACACAGGAATCTCAGCTGTAAGTGGCTATGAGGATTGTATGTCAATGACAAAACCTGGGCGGCAAACATGTTTTGGATCTTTATTTTTTAAACACGATTTTTGTCTTCTGAGAGTGTTTTCCAAAATGGCAGTTGGGAGCAATTGGGCAGTATCCATTAGCAATTCAGAAATATACACATATATACATTCTTTGACCCAGCAGCACTGCTTTGAGGGACTTACCTAGTAGAATATGTTAGCACGTCTGTCGGGCAGTGTTTGTCATAATGCAAACTGGAACCAATCCAACGTGCATCGGCAGAAGACGGGTTAAATAAACAAGGAGTCCATTGTGCCTGGGAGATGCAACAGATGTTGCCAAGGATATCTACAGAGACAGGCCATGATTTCAAGAGCAAATTGCAGAATATTTAGGGACAGTATCATTAAAAAGAAAGAGACTGGGCGCGGTGGCTTATGCCTGTAATCCCAGCATTTTCGGAGCCCGAGGCGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGGTGGTGAAACCCCGTCTCTACTAAATATACAAAAGTTAGCCCACGCTGGTGTGGACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAGAATTGCTTGAACCGGGGAGGCGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAAAACAAAAAAAACAAAACTCCGAAGCCACACAGCCTCATAGTGATGAATGTGTTAGTTAGTGTGTCCAGCATGTGCGTCTTCATCTTTGCCTTTGCACTTACAGAACTTGAGCACTGGTTACATCCGGAGATGAAAAGGGACCTTTCACTTTCACTGTATAAATGTGTACCTTAAGCCATTTCACAAGAAATGGAGTTACTTCTGCAACAAAAAGCAACCAGTAAAGACAAGGCAGGCAAGTTTAGGTTCAGGCCCAGATGGCTCCACAGCCTTCTGGATAGTTCCAGAAAAACCACTCAGGTTCTTGGTCTTTCTGTCTGGGAGTTGGGAATCCATCATGGGTTTCCTGGCAGGGAGCGTCTCACTCAGGTGGTGTGAACACACATGCTCAGTGTAGCTGTTGCTGATTCGGAAGACTGCAGCCAGCACCCATCCGCTACACTGGAGTGTAACTGGAGTGTAGTTGGTGGAGGCTTTTCTCACTGGGGAGAGGGGGTTAAGCTCCAGTCTCTATGCAAGACAAGCCTCATCTACTTTAGGCCAGCTGAGAATCTGCTTGCTTTTGTGAAATAGCTTTGTGATCAAATATTATTTTGAAAATAAATCATCTTACTGGTTTTACATGCGTATAGTGGTCTGAAGCTGGCTGGAATTGGTCTAGAGAATCCAGTCCTAGGTATGTCTGTGTGGCCAGGTTGGCTGGGCGTGAGGAGGGCACTGTGTCGTTTACATATAAGTGGGTTCTTGAAGTTGCTGTGGCTGAGTGTGTGCTCTGCTGTGTTGCGTGTCCATCCACGCAAGTGGCTGCTCCATCCCGTCTTCCATCTGAGCAGGCACAGGCGGCTCGCTCGGAGCCCATTAAGGACAAGTGCCCACTGGGCACAGGAGGCACTGGGCCTTGAGCCTGGAGTCTTTGTTTCCTGTTGGGTATGGAGACCTAAAAGGGGCGTTCCTGGAGCGACAAGAGCCTGACACTGCCTCCTCACCTTCGGGCTCCTTGTCTCTGCCTTGAGGCCCCAGAGGACGCCTGCTGGGTCTCTGGATTTCTCTATATCCAGCTCAGACCTCCCTCCCTTCTTATCCCTCCCTCCAAAGCCTTTCCGATCCTCAGCCCACAGCCGTGCCCCTCCCTTCTCCGGGTGGGGGTTTCTGAAACATTCCTGCCACGGGGTCTCACAGCTTCTGTGCGTGTCCAGTGCATTTCCCGGGTGGGCCGCTTCTCCGACGCCCTCATTCTCGCTGCAGCCCAGCCCTGGCCTGGTTGCACTCTGACTTGTCTCTCTTGGCCCCTTGTCTTCAGGGCCCCCCTGGACGCCCAGGCCTTCCTGGGGCCGATGGCCTGCCCGGTCCTCCAGGAACCATGCTCATGCTGCCCGTGAGTACCCTTATCAGTCGGAGGTGGGGAGGCAGCTGGGGCAGGTGGGATCCAAACCAGACCCTCTGAGGCTGCGCTGTCACTGGAGAGGCCTGTGGGCCCCGTCTCAGTCTGTGGTCTTGCCTGGGTGCCACGTCACTGCTCCCAGAGTGACCCTTGTCTTACACTTGCAGTTCCGGTTTGGAGGTGGCGGCGATGCGGGCTCCAAAGGCCCCATGGTCTCAGCCCAGGAGTCCCAGGCGCAAGCCATTCTCCAGCAGGCCAGGGTGAGTACTGCTGGGTCCCAAGAGGCCTGAAGGGGACAGAGCCCAGCCCCAGGGGCCAACAGGAGTGAGTGAGTCAGGCTCAGAGCCCAACTTGGAGGGAAGCAGCTGTCTTGATCCCAGAATGCCTGCTTGCTGGGGTCAGGAGCTGTGGGAGCGTCCAGTCCTCAGTGTCCAGTAGGGACCCCGAGAGCATGTCAGTGTCCAGTAGGGGCTCTGAGAGCATGTCAGTGTCCAGTAGGGGCCCCGAGAGCGTGTCACTGTCCAGTAGGGACCCCGAGAGCGTGTCACTGTCCAGTAGGGACCCCGAGAGCGTGTCACTGTCCAGTAGGGACCCCGAGAGCGTGTCACTGTCCAGTAGGGACCCCGAGATCATGGGGACTGTTTGGGGAGTTTCTCAGCAGTTCTTTGTCCATGCTGAGGGTCCGGGTTCTAACTTTACAAGGGGCTTCTGGGCCCCTCCACCTCTGACCCAGTAGGCCCACCTTCCACCGTTGGTGACCTTTGCCTCTGTGCTAGGCCCTCTGCTGGGATCCAGAAGTGGAGCCGGAAACCCACGTGGCTCCTGGAAGGGGCTGCCTGGGCTGGAGCTGGGCTCCTCTGGGAGAGAGCCCTTGGGCCCCAGAGCCCCTCACTCTCAGCCTGGGGGGTCCTAAGGAGCAGGGTCCGCAGAGGAGCACTTGCCTCCCTATTGTGAAGTAGCTCATTAGTGGCCTGTGTTTTCTGTAGACTTGGCTCCGGATTGCTGATTGCCCACGATAGGTGTAAACACTGCCCCGTGGGGCGGGTGGGTGGGTGGGTAATCCTCCAGCGGAGTGCAAGAAAGCTGCTAAGTAATCCCTTGTTTGAGAAATATTTATGCAGCTCCCACAGCAGCCAGAGTAGATGTTAATGATCAGAGTGCTTAGGTAATTACAGGACAGTGTAAGCACAGAGTCGTTACCATGGAGCAAATTGCCTGAATGATGGAAGGTGGTGTGTAGCAAACCCCACTACCTGCCACTGGGTTTATGGGCTTGGGCCTGCCTGGCTGGCCTTTTATCTTGTGTATTTTAATTGAAGCTAAATGGATGATAGGCTATAAGATTTTATAATGCAAAACAAAATATTCTAAAATTCAGATGGCATCTGCCAGGGAAACAGAGTCACTTGGCAGCTGCAGAAGCGGCTCTGTGGGAAAGCGGTGGGCCCTGCACTGGTGCAGGTGGGGGCCACATGCAGAGGGGGCAGGTGGGTTCCTACCCTCCCAAAATACTTCCCCAGTGGCTGGGAGTGCTTGAAGCGCCTCCCATGTGAAATAAAATATGTCATGACTCAGCTTGAGCTCAGGTGTAAAATGTACTCCCTATGCCCAGAGTAAGAGGCTTATTTCTGACCTAGCCAAGGGTGATGGGCTGGGAGCAGGCCCTCTCTGTGTGGGCTAGAGAGACAGGAAGGAGGGATGGGGCCTATCCCCCAAGGGAGGAAACGGGGGCCCACTGGCTTGCACCTCTGCATGTCCCACGTCACTCCCGTGGATGCTGAGAGCCCCATCGAAGTCGGGGGGGGGGGGCCCTTGGGGAGTCATCAGACCTCCTTTTCCAGAGTCTCCTGTCCCTCCTCTGTCCAGTCTGCCCGTTCCCTCCTGCCACATCTCACGGCTCAGGCGCCAGCAAACCGGAGCACTGCTGCTGGGGCCCTGTCTCAGCGTGTCTCACTTTCCTTTGCAGTTGGCACT | GTTTGGAATTGATTCCGACACAGGAATCTCAGCTGTAAGTGGCTATGAGGATTGTATGTCAATGACAAAACCTGGGCGGCAAACATGTTTTGGATCTTTATTTTTTAAACACGATTTTTGTCTTCTGAGAGTGTTTTCCAAAATGGCAGTTGGGAGCAATTGGGCAGTATCCATTAGCAATTCAGAAATATACACATATATACATTCTTTGACCCAGCAGCACTGCTTTGAGGGACTTACCTAGTAGAATATGTTAGCACGTCTGTCGGGCAGTGTTTGTCATAATGCAAACTGGAACCAATCCAACGTGCATCGGCAGAAGACGGGTTAAATAAACAAGGAGTCCATTGTGCCTGGGAGATGCAACAGATGTTGCCAAGGATATCTACAGAGACAGGCCATGATTTCAAGAGCAAATTGCAGAATATTTAGGGACAGTATCATTAAAAAGAAAGAGACTGGGCGCGGTGGCTTATGCCTGTAATCCCAGCATTTTCGGAGCCCGAGGCGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGGTGGTGAAACCCCGTCTCTACTAAATATACAAAAGTTAGCCCACGCTGGTGTGGACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAGAATTGCTTGAACCGGGGAGGCGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAAAACAAAAAAAACAAAACTCCGAAGCCACACAGCCTCATAGTGATGAATGTGTTAGTTAGTGTGTCCAGCATGTGCGTCTTCATCTTTGCCTTTGCACTTACAGAACTTGAGCACTGGTTACATCCGGAGATGAAAAGGGACCTTTCACTTTCACTGTATAAATGTGTACCTTAAGCCATTTCACAAGAAATGGAGTTACTTCTGCAACAAAAAGCAACCAGTAAAGACAAGGCAGGCAAGTTTAGGTTCAGGCCCAGATGGCTCCACAGCCTTCTGGATAGTTCCAGAAAAACCACTCAGGTTCTTGGTCTTTCTGTCTGGGAGTTGGGAATCCATCATGGGTTTCCTGGCAGGGAGCGTCTCACTCAGGTGGTGTGAACACACATGCTCAGTGTAGCTGTTGCTGATTCGGAAGACTGCAGCCAGCACCCATCCGCTACACTGGAGTGTAACTGGAGTGTAGTTGGTGGAGGCTTTTCTCACTGGGGAGAGGGGGTTAAGCTCCAGTCTCTATGCAAGACAAGCCTCATCTACTTTAGGCCAGCTGAGAATCTGCTTGCTTTTGTGAAATAGCTTTGTGATCAAATATTATTTTGAAAATAAATCATCTTACTGGTTTTACATGCGTATAGTGGTCTGAAGCTGGCTGGAATTGGTCTAGAGAATCCAGTCCTAGGTATGTCTGTGTGGCCAGGTTGGCTGGGCGTGAGGAGGGCACTGTGTCGTTTACATATAAGTGGGTTCTTGAAGTTGCTGTGGCTGAGTGTGTGCTCTGCTGTGTTGCGTGTCCATCCACGCAAGTGGCTGCTCCATCCCGTCTTCCATCTGAGCAGGCACAGGCGGCTCGCTCGGAGCCCATTAAGGACAAGTGCCCACTGGGCACAGGAGGCACTGGGCCTTGAGCCTGGAGTCTTTGTTTCCTGTTGGGTATGGAGACCTAAAAGGGGCGTTCCTGGAGCGACAAGAGCCTGACACTGCCTCCTCACCTTCGGGCTCCTTGTCTCTGCCTTGAGGCCCCAGAGGACGCCTGCTGGGTCTCTGGATTTCTCTATATCCAGCTCAGACCTCCCTCCCTTCTTATCCCTCCCTCCAAAGCCTTTCCGATCCTCAGCCCACAGCCGTGCCCCTCCCTTCTCCGGGTGGGGGTTTCTGAAACATTCCTGCCACGGGGTCTCACAGCTTCTGTGCGTGTCCAGTGCATTTCCCGGGTGGGCCGCTTCTCCGACGCCCTCATTCTCGCTGCAGCCCAGCCCTGGCCTGGTTGCACTCTGACTTGTCTCTCTTGGCCCCTTGTCTTCAGGGCCCCCCGGACGCCCAGGCCTTCCTGGGGCCGATGGCCTGCCCGGTCCTCCAGGAACCATGCTCATGCTGCCCGTGAGTACCCTTATCAGTCGGAGGTGGGGAGGCAGCTGGGGCAGGTGGGATCCAAACCAGACCCTCTGAGGCTGCGCTGTCACTGGAGAGGCCTGTGGGCCCCGTCTCAGTCTGTGGTCTTGCCTGGGTGCCACGTCACTGCTCCCAGAGTGACCCTTGTCTTACACTTGCAGTTCCGGTTTGGAGGTGGCGGCGATGCGGGCTCCAAAGGCCCCATGGTCTCAGCCCAGGAGTCCCAGGCGCAAGCCATTCTCCAGCAGGCCAGGGTGAGTACTGCTGGGTCCCAAGAGGCCTGAAGGGGACAGAGCCCAGCCCCAGGGGCCAACAGGAGTGAGTGAGTCAGGCTCAGAGCCCAACTTGGAGGGAAGCAGCTGTCTTGATCCCAGAATGCCTGCTTGCTGGGGTCAGGAGCTGTGGGAGCGTCCAGTCCTCAGTGTCCAGTAGGGACCCCGAGAGCATGTCAGTGTCCAGTAGGGGCTCTGAGAGCATGTCAGTGTCCAGTAGGGGCCCCGAGAGCGTGTCACTGTCCAGTAGGGACCCCGAGAGCGTGTCACTGTCCAGTAGGGACCCCGAGAGCGTGTCACTGTCCAGTAGGGACCCCGAGAGCGTGTCACTGTCCAGTAGGGACCCCGAGATCATGGGGACTGTTTGGGGAGTTTCTCAGCAGTTCTTTGTCCATGCTGAGGGTCCGGGTTCTAACTTTACAAGGGGCTTCTGGGCCCCTCCACCTCTGACCCAGTAGGCCCACCTTCCACCGTTGGTGACCTTTGCCTCTGTGCTAGGCCCTCTGCTGGGATCCAGAAGTGGAGCCGGAAACCCACGTGGCTCCTGGAAGGGGCTGCCTGGGCTGGAGCTGGGCTCCTCTGGGAGAGAGCCCTTGGGCCCCAGAGCCCCTCACTCTCAGCCTGGGGGGTCCTAAGGAGCAGGGTCCGCAGAGGAGCACTTGCCTCCCTATTGTGAAGTAGCTCATTAGTGGCCTGTGTTTTCTGTAGACTTGGCTCCGGATTGCTGATTGCCCACGATAGGTGTAAACACTGCCCCGTGGGGCGGGTGGGTGGGTGGGTAATCCTCCAGCGGAGTGCAAGAAAGCTGCTAAGTAATCCCTTGTTTGAGAAATATTTATGCAGCTCCCACAGCAGCCAGAGTAGATGTTAATGATCAGAGTGCTTAGGTAATTACAGGACAGTGTAAGCACAGAGTCGTTACCATGGAGCAAATTGCCTGAATGATGGAAGGTGGTGTGTAGCAAACCCCACTACCTGCCACTGGGTTTATGGGCTTGGGCCTGCCTGGCTGGCCTTTTATCTTGTGTATTTTAATTGAAGCTAAATGGATGATAGGCTATAAGATTTTATAATGCAAAACAAAATATTCTAAAATTCAGATGGCATCTGCCAGGGAAACAGAGTCACTTGGCAGCTGCAGAAGCGGCTCTGTGGGAAAGCGGTGGGCCCTGCACTGGTGCAGGTGGGGGCCACATGCAGAGGGGGCAGGTGGGTTCCTACCCTCCCAAAATACTTCCCCAGTGGCTGGGAGTGCTTGAAGCGCCTCCCATGTGAAATAAAATATGTCATGACTCAGCTTGAGCTCAGGTGTAAAATGTACTCCCTATGCCCAGAGTAAGAGGCTTATTTCTGACCTAGCCAAGGGTGATGGGCTGGGAGCAGGCCCTCTCTGTGTGGGCTAGAGAGACAGGAAGGAGGGATGGGGCCTATCCCCCAAGGGAGGAAACGGGGGCCCACTGGCTTGCACCTCTGCATGTCCCACGTCACTCCCGTGGATGCTGAGAGCCCCATCGAAGTCGGGGGGGGGGGGCCCTTGGGGAGTCATCAGACCTCCTTTTCCAGAGTCTCCTGTCCCTCCTCTGTCCAGTCTGCCCGTTCCCTCCTGCCACATCTCACGGCTCAGGCGCCAGCAAACCGGAGCACTGCTGCTGGGGCCCTGTCTCAGCGTGTCTCACTTTCCTTTGCAGTTGGCACTN | pathogenic | 153,932 |
A genetic variant at chromosome 9, position 134758233, affecting gene COL5A1 (collagen type V alpha 1 chain)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | CTGTGTCCATAGCTGGCCATCAGGAACAGGGCATCTGCTCACCGTGCAGATGCTGCCTCCCGTCGCTGTGTGGTCTGAGTGAGACTGGGCCTCACTTGGGGCCTGGGCCTCTTCCTTAGCCAAGTGGACAAACCAGATGTGTCCTTTCTCTCTTTCCTCTGACCTCCAAATGGTGGAAAGGAGCTGTGCTGTCTGTGATGTCAGTGGCCTGCACTCGCCTGAGTCCTAAATTCACGGTCCCCTAGACTGACGCAGCTCCTCCAGCCGGGTCTCCTCTGCCACATTGTGGCGTCTTCTCGAAGCCCAGGGGCAGTGGCGTGATCCCCCTTTGACAGTCTGGGATGACGTGGTCCGGAAAGACCAGCCCCGTGTGTTCCATCCGTTGGTGTGAGGCACAGAACAGCCCCGCCCGGGCTCCTGGATCTGGGTCCTCGCAGCAGCCCGGCCACTCGGGCTGTGACCTTGGGGGTGGGCGCGGCTCTGGTGGAACGCTCAACTTGGTTTAACGGAAAACCATGGCCCGGGGGTCTCAGTGAACCGGGGCTCTTTTGCATTGACGGTTTTGCCTCCTTTGTTCCAGGGTCGGGCTGGGAGTGATGGAGCCAGAGGAATGCCTGGACAAACTGGCCCCAAGGTAGGTCACCCACCACCCTCCTGGTGCCCTGGCATCACTGTCATCCCTGGGGTCATGTTGATGATGTAACCAAAATGCTGGTTATGTGATGACTACGATTATGATGACAGGTGGCTCCGTCACTGGCATTTGACGTGAAGATAGGGTTGGTGGGTGAATTTCGCCAGCAAGCGTGACAGTTGCAGTTCATTTTCATAAGGGAGAAATTTGCTCCCTTCCAGCAGTGGCGAGCAGGGATGGGGGTGGGATCCCGACTATGAAAACCATCCGTGGCCGTGCAGGTGACGAGGCGCATGTAGGGCAGAGGCGGGGCATATGGCAAGTGCGGGGGCCAGGGGGTCTTGTCCAGTCGGGACTCCTGGGTGTTGTGGAGGTGAGTAGATGTTGCCCGTGGCTAAAGGCAGGGCTGTGTGTGTGGCATGAATGAGGCTGCACCAGGCATGCACCAGCTGTTGCTGTCGCCACTCATGCCTGCCCGCTGCTGTGCTCAGTGTATCCACCCCTCTGCCCCAGCACTGCTGTGAGCATTGCCCCGGTCTTGGCTCACCCCTCCTCCTCGCCTCTTGGAAGCATTTGTCCCAGGCCACGGGGGGCAGGGGAGATACTGACCTTCCGTGAAGAGTGCACCTGGGGACAGCAGCTGTGATTTGGAGATTGGAGACCGGGCACCAAAAAAATGCCAGGGCTCAACTACACCTGTTCCCTCTTAACGGGCGTGGATGAGCTCTGAAGTGCATCCCGTCAGTCCCAAGCTAGTGAGGTGGCCTGGGGTGACAGGAGGAAACGCAGTCTTGTTGACTCTGTCTCAGAAGACCATGGTCTTCTTTCAACAACATGGCTGAAAGCCTAAAATGTCCCATCATCGACATCACCCCAGATGGTGTGCACACCCATGAGACAGGGCCCTGTTCCCGGGCTCCAGGGCATGCAGAAGAGGGGCCGGCCAGAGAGCCAGGATGCCTGAGGGTAGCCAGTGCTGGCCCGTCCACCAATGGGTACGCGTACCTCCTGAGCGCGGGCAGCCCCTCGGCACCATGGATACAGCTGTGAGCGGACACACCGGGACCCTGCTCTCCTGGAGCCTCCCTGGGGTGGGGGAGATCAGCAGCAGACACTCACACACACGGGAAACTGCAGCGGTCGCTGAAATACCGCATGACTAAGGACCCGTCGGGGCCTGGGACTTGGGGATGAAAGTCATCTCCCCCTTTGCAGCCCATGTTCATGTTTGCAGGGGAAGAGGCTGAGATTGTAGATGCAAAGTGGGGGCCTATGGGGAGAGGGCTGGCCGATGGGGTTCAGGGTGCATAGATGCTGTGTGAAACGTGGTCCAAGGCGGGGCGGCCATCACTTGGTGGACACCAAGGCGGGGTGTCCACGTGTGCAGGGTGGCGTCTGAGGCAGCCTTTCTGTCCTTTTTGCAGGGTGACCGGGGTTTCGACGGCCTGGCTGGGTTGCCAGGCGAGAAGGGCCACAGGGTGAGTATTTCCTCTGTGAGACACAGGCATGACGATGGGCAGCAGAGGTGTCTCTCGGGAGGCCCTTCTCCTTCCAGGCAGCCTCAGATTTCCTGTGGGGTCAGGTCTCCGCCATTCCAACAGTCAGTATACAAACCTCACGGGAGTCAGCAATGGCAGTGAGCCCCAAGATGATGTCTTTGTTGATGGGTGGCCAGCCCAAAGGAATTGGAGCTCTTATCTACAGTTTGTGACAAGTGAGCCAGATGGGCCTACCCACCTGAGGCGCGTGAAGGGGGCAGGGAAGGAGCCCTTCCTTTTAGAGATCTGTTTAATGGAGTCCTTTAACATTTCAGGAAATCCAAGCAGCTGCCATTTCAGGGGCGGCCAAGGACACTTTGCAATATTAAAGTGGTGGTCCCAAGGGGGTGGGGACAATCTCAAGTGGCCATGTGGAGACCAGGTCACGAAAACATGCCAGGTGTCCCCCTGTTCCCTGTTAATGGGCGTGGATGAATTTGAAAGTGTGTCCCGTGAGTCCCGAGCTAGTGCGGTGACCTGGGGGTCTTCCTGGCTGCGCCGTTTCTATGTGGTTGTTGGAGAACACAGATGCGGCAGCTTTGGATAAACGGCAACAGCCAAGCCCCTCGAATCTTGAATCTGTCTCAATAGACTGTGGTCTTCTTTCAATAACAACGTGATAGAAAGCCTACAATCTCCTGCCCTGTTGAGGAGGTGTGGTGGGGAAGGCTCGTCCTGGCCGCCTGCCCTGCTTTCTCAGCCCATTTGGGGGCCTGACATGAGGGCTCTTCACAGCTTGTGGGGTGTTCCTTCTCTGACCTGCTTTCTGTGAAGCAGATTTCTCTGATGGCTCCTTTATATTTTAGCACACTGAGGACATACAGGCACATGAGTATGTGAGTGCACACCCCCCATGCACACACACACCCACACATACACCACATACACCACACATGTGTGCGCGCACACACTCATACACACATGCACACACACGCATACACACCCACACACCCCCACACTCATACACACATGCACACAAGCACACACACACACCCACATTCATACACAGATGCACACACACCACACATGCACACATACGCATACACACCCACACACACCCACACTCATACACACATGCACACACCCACACCCACACACTCATACATGCACGCACACACACCCACACACACCCACACTCATACACACATGCACACACACATACACACACCACATACACCACACATGCGCACACACACTCATACACACATGCACACACCACACACCCCCACACATGCATACACCCCCACACCCCCACACACATATGCACACATACACCCATATTCATACACACATGCACACATACGCATGCACACCCCCACACCCCCACACTCATACACATATGCACACATGCACACACCCCCCCACCCCCACACTCATACACACACACCACACATGCACACACACCCACGCACCCCCACACTCATACACACATGCACACACACCACACATGCACACACGCATACACACCCACACCCCCCCACTCACGCACACCCCCACACCCCCACACTCACACATGCACACACACCACACAGGCACACACACACCCATGCACCCCCACACTCATACATGCACACACACGCATACATACCCCCACACCCCCACACTCATGCACACATGCACACACATGCACACCCACACACCCCACACTCATACACACATGCACACACACCCACGCACACACGCACATACACACCCACACACCCCCACACTCATACATGCACACACGCATACACGCCCACACACCCCCACACTCATACACGCCCACACACCCCCACACTCACATGTGCAGACACCACACATGCACACACATACATGCACACACACATACACCCCCACACCCCCACACTCATACACACATGCACACACCACATGCACACACACGCATACACACCCACACACCCCACACTGATACACACATGCACAC | CTGTGTCCATAGCTGGCCATCAGGAACAGGGCATCTGCTCACCGTGCAGATGCTGCCTCCCGTCGCTGTGTGGTCTGAGTGAGACTGGGCCTCACTTGGGGCCTGGGCCTCTTCCTTAGCCAAGTGGACAAACCAGATGTGTCCTTTCTCTCTTTCCTCTGACCTCCAAATGGTGGAAAGGAGCTGTGCTGTCTGTGATGTCAGTGGCCTGCACTCGCCTGAGTCCTAAATTCACGGTCCCCTAGACTGACGCAGCTCCTCCAGCCGGGTCTCCTCTGCCACATTGTGGCGTCTTCTCGAAGCCCAGGGGCAGTGGCGTGATCCCCCTTTGACAGTCTGGGATGACGTGGTCCGGAAAGACCAGCCCCGTGTGTTCCATCCGTTGGTGTGAGGCACAGAACAGCCCCGCCCGGGCTCCTGGATCTGGGTCCTCGCAGCAGCCCGGCCACTCGGGCTGTGACCTTGGGGGTGGGCGCGGCTCTGGTGGAACGCTCAACTTGGTTTAACGGAAAACCATGGCCCGGGGGTCTCAGTGAACCGGGGCTCTTTTGCATTGACGGTTTTGCCTCCTTTGTTCCAGGGTCGGGCTGGGAGTGATGGAGCCAGAGGAATGCCTGGACAAACTGGCCCCAAGGTAGGTCACCCACCACCCTCCTGGTGCCCTGGCATCACTGTCATCCCTGGGGTCATGTTGATGATGTAACCAAAATGCTGGTTATGTGATGACTACGATTATGATGACAGGTGGCTCCGTCACTGGCATTTGACGTGAAGATAGGGTTGGTGGGTGAATTTCGCCAGCAAGCGTGACAGTTGCAGTTCATTTTCATAAGGGAGAAATTTGCTCCCTTCCAGCAGTGGCGAGCAGGGATGGGGGTGGGATCCCGACTATGAAAACCATCCGTGGCCGTGCAGGTGACGAGGCGCATGTAGGGCAGAGGCGGGGCATATGGCAAGTGCGGGGGCCAGGGGGTCTTGTCCAGTCGGGACTCCTGGGTGTTGTGGAGGTGAGTAGATGTTGCCCGTGGCTAAAGGCAGGGCTGTGTGTGTGGCATGAATGAGGCTGCACCAGGCATGCACCAGCTGTTGCTGTCGCCACTCATGCCTGCCCGCTGCTGTGCTCAGTGTATCCACCCCTCTGCCCCAGCACTGCTGTGAGCATTGCCCCGGTCTTGGCTCACCCCTCCTCCTCGCCTCTTGGAAGCATTTGTCCCAGGCCACGGGGGGCAGGGGAGATACTGACCTTCCGTGAAGAGTGCACCTGGGGACAGCAGCTGTGATTTGGAGATTGGAGACCGGGCACCAAAAAAATGCCAGGGCTCAACTACACCTGTTCCCTCTTAACGGGCGTGGATGAGCTCTGAAGTGCATCCCGTCAGTCCCAAGCTAGTGAGGTGGCCTGGGGTGACAGGAGGAAACGCAGTCTTGTTGACTCTGTCTCAGAAGACCATGGTCTTCTTTCAACAACATGGCTGAAAGCCTAAAATGTCCCATCATCGACATCACCCCAGATGGTGTGCACACCCATGAGACAGGGCCCTGTTCCCGGGCTCCAGGGCATGCAGAAGAGGGGCCGGCCAGAGAGCCAGGATGCCTGAGGGTAGCCAGTGCTGGCCCGTCCACCAATGGGTACGCGTACCTCCTGAGCGCGGGCAGCCCCTCGGCACCATGGATACAGCTGTGAGCGGACACACCGGGACCCTGCTCTCCTGGAGCCTCCCTGGGGTGGGGGAGATCAGCAGCAGACACTCACACACACGGGAAACTGCAGCGGTCGCTGAAATACCGCATGACTAAGGACCCGTCGGGGCCTGGGACTTGGGGATGAAAGTCATCTCCCCCTTTGCAGCCCATGTTCATGTTTGCAGGGGAAGAGGCTGAGATTGTAGATGCAAAGTGGGGGCCTATGGGGAGAGGGCTGGCCGATGGGGTTCAGGGTGCATAGATGCTGTGTGAAACGTGGTCCAAGGCGGGGCGGCCATCACTTGGTGGACACCAAGGCGGGGTGTCCACGTGTGCAGGGTGGCGTCTGAGGCAGCCTTTCTGTCCTTTTGCAGGGTGACCGGGGTTTCGACGGCCTGGCTGGGTTGCCAGGCGAGAAGGGCCACAGGGTGAGTATTTCCTCTGTGAGACACAGGCATGACGATGGGCAGCAGAGGTGTCTCTCGGGAGGCCCTTCTCCTTCCAGGCAGCCTCAGATTTCCTGTGGGGTCAGGTCTCCGCCATTCCAACAGTCAGTATACAAACCTCACGGGAGTCAGCAATGGCAGTGAGCCCCAAGATGATGTCTTTGTTGATGGGTGGCCAGCCCAAAGGAATTGGAGCTCTTATCTACAGTTTGTGACAAGTGAGCCAGATGGGCCTACCCACCTGAGGCGCGTGAAGGGGGCAGGGAAGGAGCCCTTCCTTTTAGAGATCTGTTTAATGGAGTCCTTTAACATTTCAGGAAATCCAAGCAGCTGCCATTTCAGGGGCGGCCAAGGACACTTTGCAATATTAAAGTGGTGGTCCCAAGGGGGTGGGGACAATCTCAAGTGGCCATGTGGAGACCAGGTCACGAAAACATGCCAGGTGTCCCCCTGTTCCCTGTTAATGGGCGTGGATGAATTTGAAAGTGTGTCCCGTGAGTCCCGAGCTAGTGCGGTGACCTGGGGGTCTTCCTGGCTGCGCCGTTTCTATGTGGTTGTTGGAGAACACAGATGCGGCAGCTTTGGATAAACGGCAACAGCCAAGCCCCTCGAATCTTGAATCTGTCTCAATAGACTGTGGTCTTCTTTCAATAACAACGTGATAGAAAGCCTACAATCTCCTGCCCTGTTGAGGAGGTGTGGTGGGGAAGGCTCGTCCTGGCCGCCTGCCCTGCTTTCTCAGCCCATTTGGGGGCCTGACATGAGGGCTCTTCACAGCTTGTGGGGTGTTCCTTCTCTGACCTGCTTTCTGTGAAGCAGATTTCTCTGATGGCTCCTTTATATTTTAGCACACTGAGGACATACAGGCACATGAGTATGTGAGTGCACACCCCCCATGCACACACACACCCACACATACACCACATACACCACACATGTGTGCGCGCACACACTCATACACACATGCACACACACGCATACACACCCACACACCCCCACACTCATACACACATGCACACAAGCACACACACACACCCACATTCATACACAGATGCACACACACCACACATGCACACATACGCATACACACCCACACACACCCACACTCATACACACATGCACACACCCACACCCACACACTCATACATGCACGCACACACACCCACACACACCCACACTCATACACACATGCACACACACATACACACACCACATACACCACACATGCGCACACACACTCATACACACATGCACACACCACACACCCCCACACATGCATACACCCCCACACCCCCACACACATATGCACACATACACCCATATTCATACACACATGCACACATACGCATGCACACCCCCACACCCCCACACTCATACACATATGCACACATGCACACACCCCCCCACCCCCACACTCATACACACACACCACACATGCACACACACCCACGCACCCCCACACTCATACACACATGCACACACACCACACATGCACACACGCATACACACCCACACCCCCCCACTCACGCACACCCCCACACCCCCACACTCACACATGCACACACACCACACAGGCACACACACACCCATGCACCCCCACACTCATACATGCACACACACGCATACATACCCCCACACCCCCACACTCATGCACACATGCACACACATGCACACCCACACACCCCACACTCATACACACATGCACACACACCCACGCACACACGCACATACACACCCACACACCCCCACACTCATACATGCACACACGCATACACGCCCACACACCCCCACACTCATACACGCCCACACACCCCCACACTCACATGTGCAGACACCACACATGCACACACATACATGCACACACACATACACCCCCACACCCCCACACTCATACACACATGCACACACCACATGCACACACACGCATACACACCCACACACCCCACACTGATACACACATGCACACN | benign | 153,978 |
Evaluate the clinical significance of the mutation at chromosome 9, position 134761923 in gene COL5A1 (collagen type V alpha 1 chain): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Ehlers-Danlos_syndrome,_classic_type,_1'] | CACACACCACACAGGCACACACACACCCATGCACCCCCACACTCATACATGCACACACACGCATACATACCCCCACACCCCCACACTCATGCACACATGCACACACATGCACACCCACACACCCCACACTCATACACACATGCACACACACCCACGCACACACGCACATACACACCCACACACCCCCACACTCATACATGCACACACGCATACACGCCCACACACCCCCACACTCATACACGCCCACACACCCCCACACTCACATGTGCAGACACCACACATGCACACACATACATGCACACACACATACACCCCCACACCCCCACACTCATACACACATGCACACACCACATGCACACACACGCATACACACCCACACACCCCACACTGATACACACATGCACACACGCACACACCCCCACACCCCCCACACATACACACATGCACACACCACACATGCACACACACCCCCACACACCCCCACACATACACACACACCACACATGCATACACACCCCCACACCCCCACACTCATACACACATGCACACACACCACACATGCACACACATGCATACACACCCACACACCCCCACATTCATACACACATGCACACACACCACACATGCACACACGCATACACACCCACACACCCCCACACTCATACACCCACACACACACGCACATACACACCCACACACCCCCACACTCAGACACATGCACACACACCACACATGCACACACACACACCCACACACCCCCACACTCATACACTCATGCACACACACACACCACACATGCACACCCCCCACACTCATACATGCACACACACACCCACACACCCATACACACATGCACACACACCACACATGCACACACACCCCACACATACACGAACACCACCTACACATGCACACACACGCATACACCCTGACACACCCCCACATGCATACACACATGCACACATGCATACACACATGCACACCACCCACACATGCACACAGACGCATACATACCCACACACGCATACACACATGCACACACACACGTACACACATGCACACACATGCATACACACCCGCCACACACATACACACATGTATACCACCCCGATACACACATACACGTGCACACCAGCCACACACGCATACACACGTGCACAGGCTCCACACATGCCCACACTCACACCCACATGCACACACATGCACACGTGCACACACCCCACACATGCACACAACCCACACATGCACACTCATACCCCCACATGCATACACGCCACGCACACGCATACACACCTATACACACATATGCACCCCCCATCCCCCCACATGCACACAGGCATACACATGCACACACCCCACATACCCCCACACACTCCACCCACACACGTGCACTCGCATACACACATGCACTCACACAAACACACAGGCGCACCCACACATCCACCCACACCCCACTGCTCTGTTGATTGCTCCCGTAAGCATGCCCTGCAGCCCTCCATGATGCCTTGAGAAGGGGCTTGGCTGTTGCCATTTATCCAAAGCTGCTACATGTATGTTCTCCAACAACCACATGGAAACAGCACAGCCATGAAGGCTGTCCCTGACTCAGCTCCAGCCCTTTTGCACGACTGATGAGCACATATTGAGCACCCACTGCGTGCGAGCTCTGAGGCTGCAGGCAGGCGGGGCTCCCTGAGGGTATGAGCGTGAGGCTGCTTCACCTGGAGCACTTGGGCTGAGGATAGCTCAGACCTCGGCTCAGTGTCCTGAGGCTGCCCACATGTGTGGCCCTGCCTTGCGCTGCTGGGTGCTCAGTCCAGCACCCTCCTACCTTCAGGCCATCGTGGTGAGACTCAGGTGAGAGTCTGCAGCCTGCATTAGCCCGGCTGAGGCACACGTGATCTTCTAAGGAAAATTCCCCCATTCTGGAAGGGTCTTTTGAGAGCTTGGGAATCTTACTGTCAGAATTAGAGAAAAACAAAGTGGGACCTTGGACAAGCCCTGCATGACCTGCTCAGGAGAGGCTGACGTTGACCCTTTCACTTCCTAGGGTGACCCTGGTCCTTCCGGCCCACCAGGACCTCCGGGAGACGATGGAGAAAGGGTAGGTATTCTGCCGTCCCTCCGACTGCTCCTGCCTGCCCTACTCCTCAGTGATTTGGGCAGGAAAACCACAGAAGAGAGGCCCAGGTGTGGGATTGGCCTGCCGCATGTGGAGGGCCAGCTGGGAGAAGGCAGATGGGGATTCCAGTGGGCAAAGCGATTGATCAGATGCCAAGAGGCTGCGGGGCATTGGAGAGACCCTGACTGCAACGTTTAGTTACTCCATCGGTCCTGCTGATGGATGGAGCTCGGGGCCAGCTCTCAGCTCTCACTGCAGGATGCAGGTGCCCCAAACCCCACTGGGAGGAAAGGTGGCCAGAGCGTTTACTGAGCTCAGCGTCTCTGCTTATCTCGTCCAGATGAGGAGTTAGCTGGAGGCATGTGGGTGGCAGAAAGCTGAGATTTGGAGGAGCAGAAGAGGGTGGGGGGATTGGAAATAACCCTCTGTGGGCCTGGAGGTAGGGGAGCGAGTGGCTGTGGCCATGGGGCCAGAGCACAGGAGGGAGCTGTTCTCCAGCATGGACGCACAGGCCGGGGTCTGGTATCTGCCACGCCGTCTTCATGTGTGGAGGCGAAGTGGGATCTCTGGGCCACAGCACAGTGGGATTGGGGCATGGGATGCACGAGGCTGTGGGTTTCCAAGCTCTTCCCTGCAGGCACCGCAGTCACTCAGACGCCTTCTTTGTATGTGAGAGGTGTTTAGGGGGAAAGCTTTAAGGAGCTCTGGAGGGTGAGAAAGAGGAGCAGCTCCAGGGGCATTTCTGTCTCACCAGCTTTCAGGCTGACATGGACGGGGCACCTGCTCCTGTGTGGGCCTCAGCACAGTCTGCTGTAAGATGAGGAAGGAGAGAGGGACCCTTCTAGATGTCAGTGCTTCTTGATTGAGAGGACGTGTGTGTGTGTGTGTGTGTATGCGTGCATATGTGTGGCTGTGTGCATGTGTATGTGCAGGGAGTGCACGTATCTGTGTGCATGCATGCACGCATGGCTGTGTGCGTGTGTATGTGGACAAGCATGTGTGTATGGCTGTGTATGCATGTGCATGCACAGGGTGTATGTGTGTGCACAAGCATGTGAGCATGGCTGTGTATGCATGTGCATGCACAGGGTCTGTGTGTCCATGTGTGTGTAGGCATGTGTAGGCAGGCTGTGTGTGAGCATACATGCTTGCATGTGTGAGGCGGGCGGGAAGGTGCAGTGGTGCTTTGGCGAGGGACAGTGTTTGCAAACAGCCCGTGGGTTGAAGCAGTGAGCCAGGGAGGCATTCCCTTCTGCAGCCAGGAGGAAGCCTCTTGCTGTACTTTCCAGGCTGTTTAGGACCCCGGCAGGGACACCTGGTTCCCCAGAGGGTGGCCCAGGGGATCTTGTGACTCTCCCCTGATGCCCTGTCCTGCCCCAGAGGCTGTCATTCAAGAAGGTCACCAAATCCTTTCAATTAGATGCTCTTTCTGCCCAGCCTTTCCTCTGGAGAGCTGTGGCATGTGAGCTCCTGAGCCGGCATCTCAGAGCCTGCAGGCTTCACCTGCAGTGTCTGCACACCTAGCAGCTTGCTGGGAGCGAGGACATTCCAGGCCTTTCCGGCTGGTACCAGAGCTGGTAAACCTGGCGTATGTGAAGCAGCCCCAAGCCAGAGAACCCTTGTGCACCACTGAGGGGAAGCTGGTGTCCAGGCTAACAGCTCATTTCTCTAACCTTGCCTTTTTTCTCCTCTGCAGGGTGACGACGGAGAAGTTGGGCCCAGGGGGCTGCCTGGGGAGCCCGTAAGTCTGTGAGCTGAGTGGGACGGTGGGGGCTCAGTGTGGAGAAAGGCTTTGTCCAAGGCTCCTGCTGGAGCAGGATCTGGGATCAGCCAGGAGCTTAGAAGAGAGAGAGCTCGACCTGAGAACAGACGGACCTGGGCATCTCCCAGGGAAGCCAAAGAGAGGAGGCACAGGCGAGGCTGGCTGGCAACTCCAGGAGGAAGTCTGAGCCTGCCTACAGGAGCAAGCCTGGC | CACACACCACACAGGCACACACACACCCATGCACCCCCACACTCATACATGCACACACACGCATACATACCCCCACACCCCCACACTCATGCACACATGCACACACATGCACACCCACACACCCCACACTCATACACACATGCACACACACCCACGCACACACGCACATACACACCCACACACCCCCACACTCATACATGCACACACGCATACACGCCCACACACCCCCACACTCATACACGCCCACACACCCCCACACTCACATGTGCAGACACCACACATGCACACACATACATGCACACACACATACACCCCCACACCCCCACACTCATACACACATGCACACACCACATGCACACACACGCATACACACCCACACACCCCACACTGATACACACATGCACACACGCACACACCCCCACACCCCCCACACATACACACATGCACACACCACACATGCACACACACCCCCACACACCCCCACACATACACACACACCACACATGCATACACACCCCCACACCCCCACACTCATACACACATGCACACACACCACACATGCACACACATGCATACACACCCACACACCCCCACATTCATACACACATGCACACACACCACACATGCACACACGCATACACACCCACACACCCCCACACTCATACACCCACACACACACGCACATACACACCCACACACCCCCACACTCAGACACATGCACACACACCACACATGCACACACACACACCCACACACCCCCACACTCATACACTCATGCACACACACACACCACACATGCACACCCCCCACACTCATACATGCACACACACACCCACACACCCATACACACATGCACACACACCACACATGCACACACACCCCACACATACACGAACACCACCTACACATGCACACACACGCATACACCCTGACACACCCCCACATGCATACACACATGCACACATGCATACACACATGCACACCACCCACACATGCACACAGACGCATACATACCCACACACGCATACACACATGCACACACACACGTACACACATGCACACACATGCATACACACCCGCCACACACATACACACATGTATACCACCCCGATACACACATACACGTGCACACCAGCCACACACGCATACACACGTGCACAGGCTCCACACATGCCCACACTCACACCCACATGCACACACATGCACACGTGCACACACCCCACACATGCACACAACCCACACATGCACACTCATACCCCCACATGCATACACGCCACGCACACGCATACACACCTATACACACATATGCACCCCCCATCCCCCCACATGCACACAGGCATACACATGCACACACCCCACATACCCCCACACACTCCACCCACACACGTGCACTCGCATACACACATGCACTCACACAAACACACAGGCGCACCCACACATCCACCCACACCCCACTGCTCTGTTGATTGCTCCCGTAAGCATGCCCTGCAGCCCTCCATGATGCCTTGAGAAGGGGCTTGGCTGTTGCCATTTATCCAAAGCTGCTACATGTATGTTCTCCAACAACCACATGGAAACAGCACAGCCATGAAGGCTGTCCCTGACTCAGCTCCAGCCCTTTTGCACGACTGATGAGCACATATTGAGCACCCACTGCGTGCGAGCTCTGAGGCTGCAGGCAGGCGGGGCTCCCTGAGGGTATGAGCGTGAGGCTGCTTCACCTGGAGCACTTGGGCTGAGGATAGCTCAGACCTCGGCTCAGTGTCCTGAGGCTGCCCACATGTGTGGCCCTGCCTTGCGCTGCTGGGTGCTCAGTCCAGCACCCTCCTACCTTCAGGCCATCGTGGTGAGACTCAGGTGAGAGTCTGCAGCCTGCATTAGCCCGGCTGAGGCACACGTGATCTTCTAAGGAAAATTCCCCCATTCTGGAAGGGTCTTTTGAGAGCTTGGGAATCTTACTGTCAGAATTAGAGAAAAACAAAGTGGGACCTTGGACAAGCCCTGCATGACCTGCTCAGGAGAGGCTGACGTTGACCCTTTCACTTCCTAGGTCCTTCCGGCCCACCAGGACCTCCGGGAGACGATGGAGAAAGGGTAGGTATTCTGCCGTCCCTCCGACTGCTCCTGCCTGCCCTACTCCTCAGTGATTTGGGCAGGAAAACCACAGAAGAGAGGCCCAGGTGTGGGATTGGCCTGCCGCATGTGGAGGGCCAGCTGGGAGAAGGCAGATGGGGATTCCAGTGGGCAAAGCGATTGATCAGATGCCAAGAGGCTGCGGGGCATTGGAGAGACCCTGACTGCAACGTTTAGTTACTCCATCGGTCCTGCTGATGGATGGAGCTCGGGGCCAGCTCTCAGCTCTCACTGCAGGATGCAGGTGCCCCAAACCCCACTGGGAGGAAAGGTGGCCAGAGCGTTTACTGAGCTCAGCGTCTCTGCTTATCTCGTCCAGATGAGGAGTTAGCTGGAGGCATGTGGGTGGCAGAAAGCTGAGATTTGGAGGAGCAGAAGAGGGTGGGGGGATTGGAAATAACCCTCTGTGGGCCTGGAGGTAGGGGAGCGAGTGGCTGTGGCCATGGGGCCAGAGCACAGGAGGGAGCTGTTCTCCAGCATGGACGCACAGGCCGGGGTCTGGTATCTGCCACGCCGTCTTCATGTGTGGAGGCGAAGTGGGATCTCTGGGCCACAGCACAGTGGGATTGGGGCATGGGATGCACGAGGCTGTGGGTTTCCAAGCTCTTCCCTGCAGGCACCGCAGTCACTCAGACGCCTTCTTTGTATGTGAGAGGTGTTTAGGGGGAAAGCTTTAAGGAGCTCTGGAGGGTGAGAAAGAGGAGCAGCTCCAGGGGCATTTCTGTCTCACCAGCTTTCAGGCTGACATGGACGGGGCACCTGCTCCTGTGTGGGCCTCAGCACAGTCTGCTGTAAGATGAGGAAGGAGAGAGGGACCCTTCTAGATGTCAGTGCTTCTTGATTGAGAGGACGTGTGTGTGTGTGTGTGTGTATGCGTGCATATGTGTGGCTGTGTGCATGTGTATGTGCAGGGAGTGCACGTATCTGTGTGCATGCATGCACGCATGGCTGTGTGCGTGTGTATGTGGACAAGCATGTGTGTATGGCTGTGTATGCATGTGCATGCACAGGGTGTATGTGTGTGCACAAGCATGTGAGCATGGCTGTGTATGCATGTGCATGCACAGGGTCTGTGTGTCCATGTGTGTGTAGGCATGTGTAGGCAGGCTGTGTGTGAGCATACATGCTTGCATGTGTGAGGCGGGCGGGAAGGTGCAGTGGTGCTTTGGCGAGGGACAGTGTTTGCAAACAGCCCGTGGGTTGAAGCAGTGAGCCAGGGAGGCATTCCCTTCTGCAGCCAGGAGGAAGCCTCTTGCTGTACTTTCCAGGCTGTTTAGGACCCCGGCAGGGACACCTGGTTCCCCAGAGGGTGGCCCAGGGGATCTTGTGACTCTCCCCTGATGCCCTGTCCTGCCCCAGAGGCTGTCATTCAAGAAGGTCACCAAATCCTTTCAATTAGATGCTCTTTCTGCCCAGCCTTTCCTCTGGAGAGCTGTGGCATGTGAGCTCCTGAGCCGGCATCTCAGAGCCTGCAGGCTTCACCTGCAGTGTCTGCACACCTAGCAGCTTGCTGGGAGCGAGGACATTCCAGGCCTTTCCGGCTGGTACCAGAGCTGGTAAACCTGGCGTATGTGAAGCAGCCCCAAGCCAGAGAACCCTTGTGCACCACTGAGGGGAAGCTGGTGTCCAGGCTAACAGCTCATTTCTCTAACCTTGCCTTTTTTCTCCTCTGCAGGGTGACGACGGAGAAGTTGGGCCCAGGGGGCTGCCTGGGGAGCCCGTAAGTCTGTGAGCTGAGTGGGACGGTGGGGGCTCAGTGTGGAGAAAGGCTTTGTCCAAGGCTCCTGCTGGAGCAGGATCTGGGATCAGCCAGGAGCTTAGAAGAGAGAGAGCTCGACCTGAGAACAGACGGACCTGGGCATCTCCCAGGGAAGCCAAAGAGAGGAGGCACAGGCGAGGCTGGCTGGCAACTCCAGGAGGAAGTCTGAGCCTGCCTACAGGAGCAAGCCTGGCNNNNNNNNNN | pathogenic | 153,996 |
A genetic variant on chromosome 9, position 134763717, affects the gene COL5A1 (collagen type V alpha 1 chain). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Ehlers-Danlos_syndrome,_classic_type,_1'] | CTTGCGCTGCTGGGTGCTCAGTCCAGCACCCTCCTACCTTCAGGCCATCGTGGTGAGACTCAGGTGAGAGTCTGCAGCCTGCATTAGCCCGGCTGAGGCACACGTGATCTTCTAAGGAAAATTCCCCCATTCTGGAAGGGTCTTTTGAGAGCTTGGGAATCTTACTGTCAGAATTAGAGAAAAACAAAGTGGGACCTTGGACAAGCCCTGCATGACCTGCTCAGGAGAGGCTGACGTTGACCCTTTCACTTCCTAGGGTGACCCTGGTCCTTCCGGCCCACCAGGACCTCCGGGAGACGATGGAGAAAGGGTAGGTATTCTGCCGTCCCTCCGACTGCTCCTGCCTGCCCTACTCCTCAGTGATTTGGGCAGGAAAACCACAGAAGAGAGGCCCAGGTGTGGGATTGGCCTGCCGCATGTGGAGGGCCAGCTGGGAGAAGGCAGATGGGGATTCCAGTGGGCAAAGCGATTGATCAGATGCCAAGAGGCTGCGGGGCATTGGAGAGACCCTGACTGCAACGTTTAGTTACTCCATCGGTCCTGCTGATGGATGGAGCTCGGGGCCAGCTCTCAGCTCTCACTGCAGGATGCAGGTGCCCCAAACCCCACTGGGAGGAAAGGTGGCCAGAGCGTTTACTGAGCTCAGCGTCTCTGCTTATCTCGTCCAGATGAGGAGTTAGCTGGAGGCATGTGGGTGGCAGAAAGCTGAGATTTGGAGGAGCAGAAGAGGGTGGGGGGATTGGAAATAACCCTCTGTGGGCCTGGAGGTAGGGGAGCGAGTGGCTGTGGCCATGGGGCCAGAGCACAGGAGGGAGCTGTTCTCCAGCATGGACGCACAGGCCGGGGTCTGGTATCTGCCACGCCGTCTTCATGTGTGGAGGCGAAGTGGGATCTCTGGGCCACAGCACAGTGGGATTGGGGCATGGGATGCACGAGGCTGTGGGTTTCCAAGCTCTTCCCTGCAGGCACCGCAGTCACTCAGACGCCTTCTTTGTATGTGAGAGGTGTTTAGGGGGAAAGCTTTAAGGAGCTCTGGAGGGTGAGAAAGAGGAGCAGCTCCAGGGGCATTTCTGTCTCACCAGCTTTCAGGCTGACATGGACGGGGCACCTGCTCCTGTGTGGGCCTCAGCACAGTCTGCTGTAAGATGAGGAAGGAGAGAGGGACCCTTCTAGATGTCAGTGCTTCTTGATTGAGAGGACGTGTGTGTGTGTGTGTGTGTATGCGTGCATATGTGTGGCTGTGTGCATGTGTATGTGCAGGGAGTGCACGTATCTGTGTGCATGCATGCACGCATGGCTGTGTGCGTGTGTATGTGGACAAGCATGTGTGTATGGCTGTGTATGCATGTGCATGCACAGGGTGTATGTGTGTGCACAAGCATGTGAGCATGGCTGTGTATGCATGTGCATGCACAGGGTCTGTGTGTCCATGTGTGTGTAGGCATGTGTAGGCAGGCTGTGTGTGAGCATACATGCTTGCATGTGTGAGGCGGGCGGGAAGGTGCAGTGGTGCTTTGGCGAGGGACAGTGTTTGCAAACAGCCCGTGGGTTGAAGCAGTGAGCCAGGGAGGCATTCCCTTCTGCAGCCAGGAGGAAGCCTCTTGCTGTACTTTCCAGGCTGTTTAGGACCCCGGCAGGGACACCTGGTTCCCCAGAGGGTGGCCCAGGGGATCTTGTGACTCTCCCCTGATGCCCTGTCCTGCCCCAGAGGCTGTCATTCAAGAAGGTCACCAAATCCTTTCAATTAGATGCTCTTTCTGCCCAGCCTTTCCTCTGGAGAGCTGTGGCATGTGAGCTCCTGAGCCGGCATCTCAGAGCCTGCAGGCTTCACCTGCAGTGTCTGCACACCTAGCAGCTTGCTGGGAGCGAGGACATTCCAGGCCTTTCCGGCTGGTACCAGAGCTGGTAAACCTGGCGTATGTGAAGCAGCCCCAAGCCAGAGAACCCTTGTGCACCACTGAGGGGAAGCTGGTGTCCAGGCTAACAGCTCATTTCTCTAACCTTGCCTTTTTTCTCCTCTGCAGGGTGACGACGGAGAAGTTGGGCCCAGGGGGCTGCCTGGGGAGCCCGTAAGTCTGTGAGCTGAGTGGGACGGTGGGGGCTCAGTGTGGAGAAAGGCTTTGTCCAAGGCTCCTGCTGGAGCAGGATCTGGGATCAGCCAGGAGCTTAGAAGAGAGAGAGCTCGACCTGAGAACAGACGGACCTGGGCATCTCCCAGGGAAGCCAAAGAGAGGAGGCACAGGCGAGGCTGGCTGGCAACTCCAGGAGGAAGTCTGAGCCTGCCTACAGGAGCAAGCCTGGCCCTCAAGGGTTGTTGTGGGGGTCCAGGGGCAGCGTGGTGGGGTCTGGGGGCATTGTGGGGAGTCGGGGGCAGTATGTGGGGTCCATGGGCATTGTGGAGGGTCTGAGGGCATCGTGGTGGGGTCCGGGGTCAGTGTGGGGTGTCCGAGGGCATGGGGGTGGGGGGTACAGGGGCATCATTGGGAGGGTCCAGGGTCAGCATGGGTGGGTACAAGGGCATTGTGGGGGGTCTGAGAGCATTGTAGGGGGTCTAGGGGCAACATGGCAGGGTTCAGTGGCACCATAGGGGGTCCGAGGGCATTGTGGGGGGTCAAGGGAGAAGCATGGGAGGTCTGAGGTCATTATAGGGGGTCAGGGGGCGGCATGGGGGGTTCAAGGGCATTGTGGGGGATCTGAGTGCATTGTGAGGGGTCCCGGGGCAGCACAGTGGCATCCAGGGGCATTGTGGGGGGGGTCACACACCTGAATCAGCCCGAGCTTGGGCCCGTTTCAATGGCCACCCTTCCAGAGGCAGATTCCTCCAGCAGACTCTGCCCCAGCCCTGGGCATGGGAAAGCTCTTCCCTAAGCAGACATATATTTAGGCCCAGAGCAAATTTCCTGATGGATAGGACATTAATTACTATTCATTTACTGTTGCTTTAAAGCATCTCTTTTCTCGTAGCCAAGTCAGCCCGGCTGCGTGCGTCAGGTGGTGCTAATTGATGAGAAATATAGCAGGCACTGCATAGAGGAGGCAGGGGTCGGTGCCTGCAGACTCATTTGGGACTAAATTATACCCCAGATGTCTGATTAGCCTCTAAGGAGAATTCATGAACTCCACTCTCTCCTTAACACATGTCCAAGTAATACCTTCTGGGCTGTTAGCTTCCAAGAAATGTTGCTATAACTAGGTATTAAAATAACGAAGGAAACATTTAAGAGGCAGTAAGTGGGGGAAGGAGTTCTCTTCTACAGAATCTGAAAAGGTTCTGTCAAAATTAAGGGCACTTGAAGTCCACGTACCTGGGGTGAAGCCTCTGTAATTCTCCGTGGGTGGGGGGTGTGAGTGCCCTGTGGCAGGCAGTTCTCCCGGAATCTCACTCCACCTGCGGTAAAGGGGAGGTTCTGCACGAGCCTCGCCGACCGGAGAGGGCGTGCCAGCTCTTGCCCAGAGTAGCGTCCTGGAAAAGATCTGTACCCCACGCCTCCTTCTGCACATTCAGTCTTGGGGTTCCCACCAGGGACTAGTTTCACCTGGTGCTCTCCTGCCCGCACCCTCTGACCCTGTGATATCATAAAAACAATCGTATGTCGCTGCGGAGGGGAATTCAGGAGCGAGCCGGTAATGAGGATAGGGCACAAGGGCTCCGTGCAGTGGAATGTTATAGCGTGGTGATTCTCTGGGGGAGCGTCTGCTCACCTGCCCCAGCAAGTGTCAGAGGAGCCGGTCAGCTTGAAAGCCCCCCTTTCCCTGAGGGTGCCCTGTGGTGTCCTCTCTGAGTTCTCACCAATTCCAGACACCTGCCCCTGGTTCCCAACACCAGGGTGGGGTGGAGGGAGGCAGCGCAGCAGGCTGGGAGGGAGTCTGGGCCTCACTCCTGGGAGGCCAGGAGGCCTGAGTCACCAGCTGGGGTTCTGGGTGGAGTCAGGGCCAAGTGGGCATAGGGGACAGAGAGGAGGGCTGGGATTTCTGCCCGAGTTTAAATCCTATTTTCCCTTTCCTCTTACAGGGGCCACGTGGTCTGCTTGGGCCGAAGGGGCCCCCAGGTCCTCCCGGACCTCCCGTAAGTCCCATTACCGCCCTGCTTGTCTGC | CTTGCGCTGCTGGGTGCTCAGTCCAGCACCCTCCTACCTTCAGGCCATCGTGGTGAGACTCAGGTGAGAGTCTGCAGCCTGCATTAGCCCGGCTGAGGCACACGTGATCTTCTAAGGAAAATTCCCCCATTCTGGAAGGGTCTTTTGAGAGCTTGGGAATCTTACTGTCAGAATTAGAGAAAAACAAAGTGGGACCTTGGACAAGCCCTGCATGACCTGCTCAGGAGAGGCTGACGTTGACCCTTTCACTTCCTAGGGTGACCCTGGTCCTTCCGGCCCACCAGGACCTCCGGGAGACGATGGAGAAAGGGTAGGTATTCTGCCGTCCCTCCGACTGCTCCTGCCTGCCCTACTCCTCAGTGATTTGGGCAGGAAAACCACAGAAGAGAGGCCCAGGTGTGGGATTGGCCTGCCGCATGTGGAGGGCCAGCTGGGAGAAGGCAGATGGGGATTCCAGTGGGCAAAGCGATTGATCAGATGCCAAGAGGCTGCGGGGCATTGGAGAGACCCTGACTGCAACGTTTAGTTACTCCATCGGTCCTGCTGATGGATGGAGCTCGGGGCCAGCTCTCAGCTCTCACTGCAGGATGCAGGTGCCCCAAACCCCACTGGGAGGAAAGGTGGCCAGAGCGTTTACTGAGCTCAGCGTCTCTGCTTATCTCGTCCAGATGAGGAGTTAGCTGGAGGCATGTGGGTGGCAGAAAGCTGAGATTTGGAGGAGCAGAAGAGGGTGGGGGGATTGGAAATAACCCTCTGTGGGCCTGGAGGTAGGGGAGCGAGTGGCTGTGGCCATGGGGCCAGAGCACAGGAGGGAGCTGTTCTCCAGCATGGACGCACAGGCCGGGGTCTGGTATCTGCCACGCCGTCTTCATGTGTGGAGGCGAAGTGGGATCTCTGGGCCACAGCACAGTGGGATTGGGGCATGGGATGCACGAGGCTGTGGGTTTCCAAGCTCTTCCCTGCAGGCACCGCAGTCACTCAGACGCCTTCTTTGTATGTGAGAGGTGTTTAGGGGGAAAGCTTTAAGGAGCTCTGGAGGGTGAGAAAGAGGAGCAGCTCCAGGGGCATTTCTGTCTCACCAGCTTTCAGGCTGACATGGACGGGGCACCTGCTCCTGTGTGGGCCTCAGCACAGTCTGCTGTAAGATGAGGAAGGAGAGAGGGACCCTTCTAGATGTCAGTGCTTCTTGATTGAGAGGACGTGTGTGTGTGTGTGTGTGTATGCGTGCATATGTGTGGCTGTGTGCATGTGTATGTGCAGGGAGTGCACGTATCTGTGTGCATGCATGCACGCATGGCTGTGTGCGTGTGTATGTGGACAAGCATGTGTGTATGGCTGTGTATGCATGTGCATGCACAGGGTGTATGTGTGTGCACAAGCATGTGAGCATGGCTGTGTATGCATGTGCATGCACAGGGTCTGTGTGTCCATGTGTGTGTAGGCATGTGTAGGCAGGCTGTGTGTGAGCATACATGCTTGCATGTGTGAGGCGGGCGGGAAGGTGCAGTGGTGCTTTGGCGAGGGACAGTGTTTGCAAACAGCCCGTGGGTTGAAGCAGTGAGCCAGGGAGGCATTCCCTTCTGCAGCCAGGAGGAAGCCTCTTGCTGTACTTTCCAGGCTGTTTAGGACCCCGGCAGGGACACCTGGTTCCCCAGAGGGTGGCCCAGGGGATCTTGTGACTCTCCCCTGATGCCCTGTCCTGCCCCAGAGGCTGTCATTCAAGAAGGTCACCAAATCCTTTCAATTAGATGCTCTTTCTGCCCAGCCTTTCCTCTGGAGAGCTGTGGCATGTGAGCTCCTGAGCCGGCATCTCAGAGCCTGCAGGCTTCACCTGCAGTGTCTGCACACCTAGCAGCTTGCTGGGAGCGAGGACATTCCAGGCCTTTCCGGCTGGTACCAGAGCTGGTAAACCTGGCGTATGTGAAGCAGCCCCAAGCCAGAGAACCCTTGTGCACCACTGAGGGGAAGCTGGTGTCCAGGCTAACAGCTCATTTCTCTAACCTTGCCTTTTTTCTCCTCTGCAGGGTGACGACGGAGAAGTTGGGCCCAGGGGCTGCCTGGGGAGCCCGTAAGTCTGTGAGCTGAGTGGGACGGTGGGGGCTCAGTGTGGAGAAAGGCTTTGTCCAAGGCTCCTGCTGGAGCAGGATCTGGGATCAGCCAGGAGCTTAGAAGAGAGAGAGCTCGACCTGAGAACAGACGGACCTGGGCATCTCCCAGGGAAGCCAAAGAGAGGAGGCACAGGCGAGGCTGGCTGGCAACTCCAGGAGGAAGTCTGAGCCTGCCTACAGGAGCAAGCCTGGCCCTCAAGGGTTGTTGTGGGGGTCCAGGGGCAGCGTGGTGGGGTCTGGGGGCATTGTGGGGAGTCGGGGGCAGTATGTGGGGTCCATGGGCATTGTGGAGGGTCTGAGGGCATCGTGGTGGGGTCCGGGGTCAGTGTGGGGTGTCCGAGGGCATGGGGGTGGGGGGTACAGGGGCATCATTGGGAGGGTCCAGGGTCAGCATGGGTGGGTACAAGGGCATTGTGGGGGGTCTGAGAGCATTGTAGGGGGTCTAGGGGCAACATGGCAGGGTTCAGTGGCACCATAGGGGGTCCGAGGGCATTGTGGGGGGTCAAGGGAGAAGCATGGGAGGTCTGAGGTCATTATAGGGGGTCAGGGGGCGGCATGGGGGGTTCAAGGGCATTGTGGGGGATCTGAGTGCATTGTGAGGGGTCCCGGGGCAGCACAGTGGCATCCAGGGGCATTGTGGGGGGGGTCACACACCTGAATCAGCCCGAGCTTGGGCCCGTTTCAATGGCCACCCTTCCAGAGGCAGATTCCTCCAGCAGACTCTGCCCCAGCCCTGGGCATGGGAAAGCTCTTCCCTAAGCAGACATATATTTAGGCCCAGAGCAAATTTCCTGATGGATAGGACATTAATTACTATTCATTTACTGTTGCTTTAAAGCATCTCTTTTCTCGTAGCCAAGTCAGCCCGGCTGCGTGCGTCAGGTGGTGCTAATTGATGAGAAATATAGCAGGCACTGCATAGAGGAGGCAGGGGTCGGTGCCTGCAGACTCATTTGGGACTAAATTATACCCCAGATGTCTGATTAGCCTCTAAGGAGAATTCATGAACTCCACTCTCTCCTTAACACATGTCCAAGTAATACCTTCTGGGCTGTTAGCTTCCAAGAAATGTTGCTATAACTAGGTATTAAAATAACGAAGGAAACATTTAAGAGGCAGTAAGTGGGGGAAGGAGTTCTCTTCTACAGAATCTGAAAAGGTTCTGTCAAAATTAAGGGCACTTGAAGTCCACGTACCTGGGGTGAAGCCTCTGTAATTCTCCGTGGGTGGGGGGTGTGAGTGCCCTGTGGCAGGCAGTTCTCCCGGAATCTCACTCCACCTGCGGTAAAGGGGAGGTTCTGCACGAGCCTCGCCGACCGGAGAGGGCGTGCCAGCTCTTGCCCAGAGTAGCGTCCTGGAAAAGATCTGTACCCCACGCCTCCTTCTGCACATTCAGTCTTGGGGTTCCCACCAGGGACTAGTTTCACCTGGTGCTCTCCTGCCCGCACCCTCTGACCCTGTGATATCATAAAAACAATCGTATGTCGCTGCGGAGGGGAATTCAGGAGCGAGCCGGTAATGAGGATAGGGCACAAGGGCTCCGTGCAGTGGAATGTTATAGCGTGGTGATTCTCTGGGGGAGCGTCTGCTCACCTGCCCCAGCAAGTGTCAGAGGAGCCGGTCAGCTTGAAAGCCCCCCTTTCCCTGAGGGTGCCCTGTGGTGTCCTCTCTGAGTTCTCACCAATTCCAGACACCTGCCCCTGGTTCCCAACACCAGGGTGGGGTGGAGGGAGGCAGCGCAGCAGGCTGGGAGGGAGTCTGGGCCTCACTCCTGGGAGGCCAGGAGGCCTGAGTCACCAGCTGGGGTTCTGGGTGGAGTCAGGGCCAAGTGGGCATAGGGGACAGAGAGGAGGGCTGGGATTTCTGCCCGAGTTTAAATCCTATTTTCCCTTTCCTCTTACAGGGGCCACGTGGTCTGCTTGGGCCGAAGGGGCCCCCAGGTCCTCCCGGACCTCCCGTAAGTCCCATTACCGCCCTGCTTGTCTGCN | pathogenic | 154,009 |
The mutation in gene COL5A1 (collagen type V alpha 1 chain) at chromosome 9, position 134767019—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Ehlers-Danlos_syndrome,_classic_type,_1'] | TACCTGGGGTGAAGCCTCTGTAATTCTCCGTGGGTGGGGGGTGTGAGTGCCCTGTGGCAGGCAGTTCTCCCGGAATCTCACTCCACCTGCGGTAAAGGGGAGGTTCTGCACGAGCCTCGCCGACCGGAGAGGGCGTGCCAGCTCTTGCCCAGAGTAGCGTCCTGGAAAAGATCTGTACCCCACGCCTCCTTCTGCACATTCAGTCTTGGGGTTCCCACCAGGGACTAGTTTCACCTGGTGCTCTCCTGCCCGCACCCTCTGACCCTGTGATATCATAAAAACAATCGTATGTCGCTGCGGAGGGGAATTCAGGAGCGAGCCGGTAATGAGGATAGGGCACAAGGGCTCCGTGCAGTGGAATGTTATAGCGTGGTGATTCTCTGGGGGAGCGTCTGCTCACCTGCCCCAGCAAGTGTCAGAGGAGCCGGTCAGCTTGAAAGCCCCCCTTTCCCTGAGGGTGCCCTGTGGTGTCCTCTCTGAGTTCTCACCAATTCCAGACACCTGCCCCTGGTTCCCAACACCAGGGTGGGGTGGAGGGAGGCAGCGCAGCAGGCTGGGAGGGAGTCTGGGCCTCACTCCTGGGAGGCCAGGAGGCCTGAGTCACCAGCTGGGGTTCTGGGTGGAGTCAGGGCCAAGTGGGCATAGGGGACAGAGAGGAGGGCTGGGATTTCTGCCCGAGTTTAAATCCTATTTTCCCTTTCCTCTTACAGGGGCCACGTGGTCTGCTTGGGCCGAAGGGGCCCCCAGGTCCTCCCGGACCTCCCGTAAGTCCCATTACCGCCCTGCTTGTCTGCCCCCATCTCGGCCTTTGAGACCCCGCCTCCCAGCCGGTGGACGCTTGGGCACTGGGGCAGCAAGTCCGTGCTGGCCCCTCTGGCGCCTGCCTGCTGCCAGTGTGAGGCGTGAGCGGGACACTGATGTTCAGACGCTGTAGACACGGCCCCAGCAGGTGTGGCCTTGCAGGTGGAGGCCCGAGGCTGCCGGCCTCACGCCTCCGCTTCACCCTGGCTGCACTTCCTCCTGGCAGACAGCATGTGCTATTTCAGTTATAAGCAGAAACCCAGGATGTCACGTTTCTTCCCTGCTAGAAAGAACTTCCAGCAGCTTCTGTGAACATTCTGGAAGGAGGCTGAAGCCCTTGATTCCAGTGGGGCTGTGTCCCGGTGGGCAGCTCCCCCAGGGCCAGGCCTGCCCCCTTCAGCCTTCCCAGCCCCGTGACCTGGTTTTCTAGAACCTGAGGCCTGCCCCGTGGAATGCTAGGGCCTGGCAGTTCAGTTAACCTTTAGCTGAGGGTTACTGGGGCTGATCAGTGGACCTCTGGGAAGGGATTTGGAGTCAGGTCCTTCCCTTCCCCAGAGAGCATCCCGTCCTCTGATTCGTCGTGGGATGGGCGTCTGAGCTGAGTTGAGTGGGATTTTCCTCTTGAGCACTGTGAGTTCTTTCGCATTCAGTTACATGTTTTTCTTCTTAAAATCGTACACAGGGTGTCACGGGTATGGACGGCCAGCCGGGGCCAAAAGGAAATGTGGTAAGTCCCTGGGGTCCCGTGGCCTGGCTTCAGGGGCACTTTCCCTGGGCACACTCCTTGCCTGGCTAGGGAGGTCCATCGCTGTCCACATCAGCTGGGAACATGAAGGGCAGGTTGCAGACCCTCTGCTGTGGTGCCCACCCTCCAGTGGTGAGTGGCACCTGGAGACTTTAGCATGATGGGGTGACTTGGGAGTTTTCTGCCCAATAAATCATTTCTGGTCAGTTCCTCTCACGTGTTCCTTCCTGGTCGGATGTCTGGGCATATTTGCATAAACGAGTTAGTGCTCACTCCATCAGAGTCAACCTCCACAGCCTCAGAGGCGCTGAGTCCTGGGGCTGCTCTCTGTGGTGGGACCCGGCCGCCTTTCCCTTCCCGCTGGCATTAGGCAGTGGGGAGCAGTTTGAAAGGATGGGAGGCCAGTGAGGGGGCACACGACACCCAGGAAGGGGATACAGTTCCCAGAGCCCCCTTCAGTGCCTTTGCTCTTGTCTCCTGTAGGGTCCCCAGGGAGAGCCTGGCCCCCCAGGACAGCAGGGTAATCCAGGCGCCCAGGTAAGTGAGCCTGAGAGAGGCAGCTCGCAGGGATCCGGCCGTGGGAGGCACACGTCTCCAGTCCGGAGCCCTGGGAGGAAGCGGGGAGCTCTGTCCCCTCCAAGTAGCAGCCCCTCCCCTTATCTGGAGGGAGACTAGGACCTGGGTTGGTGCCTGGATGAGGGAGACATCAATGAGAAGATGGACAGATGGCAGGGGAGGGTTCTGAGTCAATCAGCGCCCTCACCTTCCCTTTCTGGCTCTTTCTCCCTCTTAGGGTCTTCCAGGCCCCCAGGGTGCAATTGGTCCTCCAGGAGAAAAGGTAGGTGGGCCTGGGCTGTGTTGCAGGCCACTGCCCGCCTGCAGGTGGATTCCCTGGCCCCACCCTGGGAGGACCCCTGGTATCCACCAGCTCTCAATGTATATCTTGGTGCTCCCAAGAGACGCCAAAGCTCAGAGTGCCAAGAACTGGGCCAGAAGCATGAGGAGGATTTTGGATCCGTGTCTCATTGATTCATACGTTTATTCATTCATTCATTCTCTAGTATGTATAGGGGTTGCTGGATTTAGCAAGGAACAAAAATACAGGACATGCAGTTAAATTTGAACTATTGTGTATCTGAAATTCAAATTTAACCGGGCATCTTGTTTTGTTGTTGTTTATTTTGGTTTAGTCTAGTTTTGCTAAATTTGGCAACTTGACTGTATCTCCAGAGCCTACTGTGTCCTAGGCCCTGGAACGAGAGCTGGAAGTGCTTGCCCTTCTAGAGCTTGTCGCTTAACCAGGCACAAGATAGTTCAGGTAGCTCCAAGTGCCTTGGTTGCGATCAGCAAAAACACCTCCAAGGGGCTGGTTCTGAGTGCATGAGAATCCCCGGGGGGCCTGAGAAACACAGAGGGCTGGGCTGCTGCCAGGCCTGGGACCTTCCAGGAGCTGCTGTTTATGGGATACTGAGGCTGTGGGCCTTGCACTGCAGGATGCCCTGCCCTGCCCTGGGGTGTTGATGTGAACAGACCAGGGAGGACAGGGTGGTGGGAGCACTTGAAGAAGGCACAGCACTGTAAGAGCAGAGGAGGCCAGATGATGCCCCCCCGGGCCCCAGTATGCAGCAGGTGGATGTGGAGAAGAATGGGGGCACTTGGTGGACTGATTCCGTTCCTACAGCAGAACCTGAAGGTGCTGAGAACAGTGGAGCCGCCTCCTCCTGGGCGCTACCGTGGCTGCACGCCTCACAGCCAGGGACCCAGTGCCTCTGACCACACTTCTCAGCAAATGCTGTGTGGGCAGAAATGTTGAAAAGTAACCTTGGTGGCCGACGGAGAGGTCAGGTGAGCCTAGGGAGGGCATCTCCTCATGGAGTCTCTGGTTTGTTCTAGGGTCCCTTGGGGAAACCAGGCCTTCCAGGAATGCCCGGTGCTGACGGACCCCCGGTGAGTAGCCCTGCCCACCTCATCCCTCCATACTCTCCCCACCTCCACCCTGCGGATAGGGCTGCAGGCCCAGGCTCTTTGGGGTTGTTGTTGGACGGCATTGACTCATTCTGGCTCTGTTGATGAAGACCCGTTTGGTCTCCAGTTGGACTGCTCGGTCATTCTTGGGTTCTGGACACCCTTAACATCATGGATTTTAATCAACGAGTGGCGATTGCGCGAGTAGGAATATTAGCTATTTATTAGGTTGTGCTGATTAATTACCGGAAGTCAGGCCTGCGTGCTGAGCCGTGAGGAGGGCTGGGCCGGGCTCCAGGCCATCGCTTGCGTCCCCAGGGTTGGAAGCGAAGAGGCAGGGTACGTGGTGTGTATTTTTAGTGTTCACACACTGAGAAGGGAGGTGGTGAGCAAACGCGTTTGCAGTGTGTGCGCGCACAGCTGTGGAGCCAAATTAGATTCTGCCTGGAAATAGCGAGTTGGTGACAAATCCAATCTGTGTCTAAGCTGTGTGGAGGGGGGAGGTGTGAGGAAGTAGAACACACTCAGAATGCGTGCGTGCGTGCACACGTGCGTGTACATGAGTGTGAGCTGATTTGCACCCAC | TACCTGGGGTGAAGCCTCTGTAATTCTCCGTGGGTGGGGGGTGTGAGTGCCCTGTGGCAGGCAGTTCTCCCGGAATCTCACTCCACCTGCGGTAAAGGGGAGGTTCTGCACGAGCCTCGCCGACCGGAGAGGGCGTGCCAGCTCTTGCCCAGAGTAGCGTCCTGGAAAAGATCTGTACCCCACGCCTCCTTCTGCACATTCAGTCTTGGGGTTCCCACCAGGGACTAGTTTCACCTGGTGCTCTCCTGCCCGCACCCTCTGACCCTGTGATATCATAAAAACAATCGTATGTCGCTGCGGAGGGGAATTCAGGAGCGAGCCGGTAATGAGGATAGGGCACAAGGGCTCCGTGCAGTGGAATGTTATAGCGTGGTGATTCTCTGGGGGAGCGTCTGCTCACCTGCCCCAGCAAGTGTCAGAGGAGCCGGTCAGCTTGAAAGCCCCCCTTTCCCTGAGGGTGCCCTGTGGTGTCCTCTCTGAGTTCTCACCAATTCCAGACACCTGCCCCTGGTTCCCAACACCAGGGTGGGGTGGAGGGAGGCAGCGCAGCAGGCTGGGAGGGAGTCTGGGCCTCACTCCTGGGAGGCCAGGAGGCCTGAGTCACCAGCTGGGGTTCTGGGTGGAGTCAGGGCCAAGTGGGCATAGGGGACAGAGAGGAGGGCTGGGATTTCTGCCCGAGTTTAAATCCTATTTTCCCTTTCCTCTTACAGGGGCCACGTGGTCTGCTTGGGCCGAAGGGGCCCCCAGGTCCTCCCGGACCTCCCGTAAGTCCCATTACCGCCCTGCTTGTCTGCCCCCATCTCGGCCTTTGAGACCCCGCCTCCCAGCCGGTGGACGCTTGGGCACTGGGGCAGCAAGTCCGTGCTGGCCCCTCTGGCGCCTGCCTGCTGCCAGTGTGAGGCGTGAGCGGGACACTGATGTTCAGACGCTGTAGACACGGCCCCAGCAGGTGTGGCCTTGCAGGTGGAGGCCCGAGGCTGCCGGCCTCACGCCTCCGCTTCACCCTGGCTGCACTTCCTCCTGGCAGACAGCATGTGCTATTTCAGTTATAAGCAGAAACCCAGGATGTCACGTTTCTTCCCTGCTAGAAAGAACTTCCAGCAGCTTCTGTGAACATTCTGGAAGGAGGCTGAAGCCCTTGATTCCAGTGGGGCTGTGTCCCGGTGGGCAGCTCCCCCAGGGCCAGGCCTGCCCCCTTCAGCCTTCCCAGCCCCGTGACCTGGTTTTCTAGAACCTGAGGCCTGCCCCGTGGAATGCTAGGGCCTGGCAGTTCAGTTAACCTTTAGCTGAGGGTTACTGGGGCTGATCAGTGGACCTCTGGGAAGGGATTTGGAGTCAGGTCCTTCCCTTCCCCAGAGAGCATCCCGTCCTCTGATTCGTCGTGGGATGGGCGTCTGAGCTGAGTTGAGTGGGATTTTCCTCTTGAGCACTGTGAGTTCTTTCGCATTCAGTTACATGTTTTTCTTCTTAAAATCGTACACAGGGTGTCACGGGTATGGACGGCCAGCCGGGGCCAAAAGGAAATGTGGTAAGTCCCTGGGGTCCCGTGGCCTGGCTTCAGGGGCACTTTCCCTGGGCACACTCCTTGCCTGGCTAGGGAGGTCCATCGCTGTCCACATCAGCTGGGAACATGAAGGGCAGGTTGCAGACCCTCTGCTGTGGTGCCCACCCTCCAGTGGTGAGTGGCACCTGGAGACTTTAGCATGATGGGGTGACTTGGGAGTTTTCTGCCCAATAAATCATTTCTGGTCAGTTCCTCTCACGTGTTCCTTCCTGGTCGGATGTCTGGGCATATTTGCATAAACGAGTTAGTGCTCACTCCATCAGAGTCAACCTCCACAGCCTCAGAGGCGCTGAGTCCTGGGGCTGCTCTCTGTGGTGGGACCCGGCCGCCTTTCCCTTCCCGCTGGCATTAGGCAGTGGGGAGCAGTTTGAAAGGATGGGAGGCCAGTGAGGGGGCACACGACACCCAGGAAGGGGATACAGTTCCCAGAGCCCCCTTCAGTGCCTTTGCTCTTGTCTCCTGTAGGGTCCCCAGGGAGAGCCTGGCCCCCCCAGGACAGCAGGGTAATCCAGGCGCCCAGGTAAGTGAGCCTGAGAGAGGCAGCTCGCAGGGATCCGGCCGTGGGAGGCACACGTCTCCAGTCCGGAGCCCTGGGAGGAAGCGGGGAGCTCTGTCCCCTCCAAGTAGCAGCCCCTCCCCTTATCTGGAGGGAGACTAGGACCTGGGTTGGTGCCTGGATGAGGGAGACATCAATGAGAAGATGGACAGATGGCAGGGGAGGGTTCTGAGTCAATCAGCGCCCTCACCTTCCCTTTCTGGCTCTTTCTCCCTCTTAGGGTCTTCCAGGCCCCCAGGGTGCAATTGGTCCTCCAGGAGAAAAGGTAGGTGGGCCTGGGCTGTGTTGCAGGCCACTGCCCGCCTGCAGGTGGATTCCCTGGCCCCACCCTGGGAGGACCCCTGGTATCCACCAGCTCTCAATGTATATCTTGGTGCTCCCAAGAGACGCCAAAGCTCAGAGTGCCAAGAACTGGGCCAGAAGCATGAGGAGGATTTTGGATCCGTGTCTCATTGATTCATACGTTTATTCATTCATTCATTCTCTAGTATGTATAGGGGTTGCTGGATTTAGCAAGGAACAAAAATACAGGACATGCAGTTAAATTTGAACTATTGTGTATCTGAAATTCAAATTTAACCGGGCATCTTGTTTTGTTGTTGTTTATTTTGGTTTAGTCTAGTTTTGCTAAATTTGGCAACTTGACTGTATCTCCAGAGCCTACTGTGTCCTAGGCCCTGGAACGAGAGCTGGAAGTGCTTGCCCTTCTAGAGCTTGTCGCTTAACCAGGCACAAGATAGTTCAGGTAGCTCCAAGTGCCTTGGTTGCGATCAGCAAAAACACCTCCAAGGGGCTGGTTCTGAGTGCATGAGAATCCCCGGGGGGCCTGAGAAACACAGAGGGCTGGGCTGCTGCCAGGCCTGGGACCTTCCAGGAGCTGCTGTTTATGGGATACTGAGGCTGTGGGCCTTGCACTGCAGGATGCCCTGCCCTGCCCTGGGGTGTTGATGTGAACAGACCAGGGAGGACAGGGTGGTGGGAGCACTTGAAGAAGGCACAGCACTGTAAGAGCAGAGGAGGCCAGATGATGCCCCCCCGGGCCCCAGTATGCAGCAGGTGGATGTGGAGAAGAATGGGGGCACTTGGTGGACTGATTCCGTTCCTACAGCAGAACCTGAAGGTGCTGAGAACAGTGGAGCCGCCTCCTCCTGGGCGCTACCGTGGCTGCACGCCTCACAGCCAGGGACCCAGTGCCTCTGACCACACTTCTCAGCAAATGCTGTGTGGGCAGAAATGTTGAAAAGTAACCTTGGTGGCCGACGGAGAGGTCAGGTGAGCCTAGGGAGGGCATCTCCTCATGGAGTCTCTGGTTTGTTCTAGGGTCCCTTGGGGAAACCAGGCCTTCCAGGAATGCCCGGTGCTGACGGACCCCCGGTGAGTAGCCCTGCCCACCTCATCCCTCCATACTCTCCCCACCTCCACCCTGCGGATAGGGCTGCAGGCCCAGGCTCTTTGGGGTTGTTGTTGGACGGCATTGACTCATTCTGGCTCTGTTGATGAAGACCCGTTTGGTCTCCAGTTGGACTGCTCGGTCATTCTTGGGTTCTGGACACCCTTAACATCATGGATTTTAATCAACGAGTGGCGATTGCGCGAGTAGGAATATTAGCTATTTATTAGGTTGTGCTGATTAATTACCGGAAGTCAGGCCTGCGTGCTGAGCCGTGAGGAGGGCTGGGCCGGGCTCCAGGCCATCGCTTGCGTCCCCAGGGTTGGAAGCGAAGAGGCAGGGTACGTGGTGTGTATTTTTAGTGTTCACACACTGAGAAGGGAGGTGGTGAGCAAACGCGTTTGCAGTGTGTGCGCGCACAGCTGTGGAGCCAAATTAGATTCTGCCTGGAAATAGCGAGTTGGTGACAAATCCAATCTGTGTCTAAGCTGTGTGGAGGGGGGAGGTGTGAGGAAGTAGAACACACTCAGAATGCGTGCGTGCGTGCACACGTGCGTGTACATGAGTGTGAGCTGATTTGCACCCA | pathogenic | 154,035 |
Gene COL5A1 (collagen type V alpha 1 chain) variant at chromosome 9, position 134796894—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Ehlers-Danlos_syndrome', 'Ehlers-Danlos_syndrome,_classic_type,_1'] | ATTGGATTTCAGCAGGACTTGTGCAGGAGTGCAAAGCTGTGTGTGTCGGGTGTGCGGTGAGCTTCTCGCCCTGATAAATCTCCTATTAAAACACGGAAAAGGTGGGTGGCGGGGAGGCCCAGGTTCCTCCTATCCTGCTCTGAATTCACAGTCTCTCAATAACCCGGGAGACAGCTGCCACCTGAGCAGGGCCGGGCATTTAGAGAGTGACTGACCAGCCCCTTCTCTGATTCTAGGGGACCCCTGGAAAGCCAGGACCGCGGGGGCAGCGAGGCCCAACGGTAACCACCCTTTCAGCTTGTGGGCATGTTTGGGAAACGGGAGCATGGTTTAGGGAGCACGTGCCAGGGGCTGGGGGAAGGCAGTGTCTGTGTGTCGGGACTTGAGCTGACCTTCCTTCTCTCCCATCTGTCCAGGGTCCGAGGGGTGAAAGAGGCCCCCGGGGCATCACTGGGAAGCCTGGCCCCAAGGTATGTTTTTGGCCTCCTGGGCGGTGGGCGGCGTGAACCCAAGTTGCAAGGCTACAGAGACGTGGAGCGTCTGAGGGTGTCTGTGACCTTTTTTATTAAAAAAAAAAAAAAAGGCAGGACATTTTCTTAGGTGTGTTTAAGAAGCTTGTCCCCTCCAGCAGCCTCTGGATGCCTCAGATCAGATGTAATTAAGTGGCTGAGAACGATGGTCATGAGAAGTGGCCCCAGCAGAGCAGGGACAGGGCCTCGCCCCAACACCTGGGACCCCAAAGACGGCAGCAGGGGGCCAGGCCCACCGCAGACTCACCCGCCCTGGTCGGGAGGCCCCATTTCCTCTCTTGAAAGGGGTTTGAGAGCTGCAGAGGCCTCTACCAGAACCTACAGAAAGTGCTTTCTGGCAGGGGAAGGCCCAGGCCGGCCTCATGCACATTCTTCCCACCGAGGGGCATTGAAGCCACTCCTTGGGTGGAGAATCTGGACACAGACCCAGCAGGCAGGCTACTCCTACCTGTCCAGGATGCCACTCCAGAGCGGGTTCCTGCTGGGATGAGTCTTCCAAGGGCTGAGGGGCCGAGCTGGCCCGTCCCTCGGCTGACCGGAATGCACCCACAGGCCACCCTGAACTCCTCCAGGACAAGCTCTGGGGCACTTCTCGTGTGCCCCGTGACCTGACCTGAGGCTCACCTATGAGAACTCAGAGCAGCAGCTGTCACATGGGGGTGGCCCTAGAGCGGGTCCCTGCGTTCTGCCTTTGCATGACTTTTCCAGGTGCTCGAGGCTGGGGCACAGCCTTTGTCCCACTCAGGAGACTGTTCTGGAAATGTCCAGCCTTGTAGACACTGGGCTGTCAGCTGCATGCAGAGGCACGGGGACAGGCAGGCTTTGATAGCCACAGATCAGCGCCAATGCCTTCTGCCCCTTACTGAGGGTCAGGGCCACCTTCAGGGGTGCACACAGGCAATATTTGACTCAGACGTTTTGATGACGTTGTGGGCCAGAGTCTTTTCATCCAAATAATAACAATCATAAGCTTTTCCCCCCTCTCCTTCCCTCTCAAGGGCAACTCCGGAGGTGACGGCCCAGCTGGCCCTCCTGGTGAACGGGTAAGCAGCTGGAGCCTTCGGGGGTGTCTCCAAGGGCAGAGCCTGCCTCGAATGCCCCCTGCACTTTGTCCTGGGGTGGGCTGGGGCCAGGGAGGCACGCCTCAGACCCTGCTGAAGGGTAGGGTTTTCCTAAGATCCCAAGGGTGGGTCACGCCCTGGGAGTGAACTCTTCCGTAGGTCAGGGGCCTCGACCGCAGCCCTGGTCTTGGGGTTTGGGAGTGGCCGAGATGACAGGAAATGGGTCCTGGGCCCCATCCTGCCCCCGAGGGTGAGGCAGGGTGAGGGAGGGGCTGGAATAATGGAGGAAAGGCCATGGGGGTGGGAAGAAATGACACCTGCGTTCAGAGAGCCACCGGCACAGGCAGGTCAGCGGCAGGAGCTGCTCGGGAGAGACCTCTTGTCCTCAAACTGGCCTTTCTCTGTTCCCAGGGACCCAATGGACCCCAAGGACCCACAGGATTTCCTGGACCAAAGGGCCCCCCTGTAAGTAATGGCTTCCTTGCTGGGCCAGCACTGCCTGTCCCCTCCAAAACCCACCTGTCCCCTCCAAAACCCGCCTGTTTTCTCTGAGGTCTGCTCGGAGCTCCTCACAGTGGCCGGTGGGTGGAGGGAGGCCCGAGGTGAAATTCTGGCTGGTCAGATGAGGGGGAGACCCCCCCACCGCCAAGGCGGCTGTGGGGCAGTCTGTGGCTGTGTCCCACTGCCGGGCCCGCTGGCACTGGAGAGGGCTGCACGCTGGGGTCCTCTCTCCTTGAGACTGAAGTGATTTTCTCTGAGTTCTGTGTTAGTGCCCTGGGGCCGCCATCACAAATGACCAGGAACTGGCTTAGAACTGGGTGTGGCTCTTCTGTCACAGCCCTGGGGGCCAGAAGTTGGAGAGCAAAGTGTGGTCAGTCAGAGCTGGCACCTTCTGGAAGCTCTAGGGGAGATGGGGTACCAGGCCTCTCCCGGGGGCTGGTAGCTGCTGCCAGTCCTTGGCACCCAGTGGCCTGTGCACACTCACCCTGGCCACTGCCCCCATCTTCACGTGGACTTCCGTCTGTGTCTCTCTGTCTTCTAATCTCTTTCTTTTTTTGTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCATTGGCTCGATCTCGGCTCACTGCAAACTCTGCCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGATGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGCCACCGTGCCCGGAGCCCCCACGCCCGGCCATCTCTTTCATTTTATAAGGACACCAGTCACTGGGCTGGGCCCACACCCATCTAGGTTGGCTTCATCCTAATTCAGTTACACTGGCAAAAACCCCATTTCCAAGTGAGGTCACAGGCACAGGTTCTGGGGGTCAGAGCTTCCACATGTCCTTTTTGGGGACACACGTCGCCTTATGGCAGGTGTGATGTATCTCCTCCAGTATGGACAACCATCTAGCAGTGGGATTATGACCCAGCAGGCATGGCGGGGCTGGTGGGAGGAGGTTGGACTTTGCAACTGGACAGACTTGGGTCCTGGCACCGGCTGTGTCACCTGCTGGCTGGACCTCAGGATACCAACTGGCCTCTTATGCCTCGGTTTCTCCCTTGGTAGATGAGGGTGACAACAGCACGTCCCATGGGGCAGTTGTGAGGATTTTGTACGAGGACAGGCAGGAGCCAAGGACAGCTTTAGATTTGTTGTCACTGTCCCCGTGCCTGCCAGGTGATTGCTTTTCTCAGAGGATGTGCAGGGGCAGGAGCCATGGAAATAACGGTCACTCCACGTGGCATTAATTCTCAAAGGTGGTTGCTTCTCAGACACGAATGAACCTCCTTTCCTTTGGTTTTTTCTTCAGGGCCCTCCAGGCAAGGATGGACTCCCAGGACACCCTGGACAGAGAGGCGAGACTGTGAGTATCGAGGGTGCTGGGGGACGTGGCTGGCTGGCTCTCTGACCACCCTGCACGTGGGCACAGCCCTCGCTGCCCAGCGCCATCTAGGACCCTCCTGGCCTGGGAGAGACAGGTTGGCCTCAGAAAGGCTCCCAAGGGCCGGGCCGGCTTCCGCTGACTCAGAGCCAGGCTGTGAGGCAGGGCCAGGGCAGAGCAGTCATGCAGGCCGGCAGCGCCTTATGGCATCTGTGGGCAGAAGGCAGGTGTTGGCTTTGGGCTGGTTTTGGAAACTTTGGTGAGAGGCCACATTTAAAGACACACACAGATTATCCTGGGCCGACTGAAGCCTCATGCATCCAGCCTTATTTTCCCTCTAGAATAATGCTGAGTGCTACCCCGCTTGAGGGATACGTCTTTTAATTGAGAAAGTGCTGGGAAAGGGTCTACATGTTACTCAGCGTCATTCAGTCATTCGATGCTGCAATACTTCAAGAGGGC | ATTGGATTTCAGCAGGACTTGTGCAGGAGTGCAAAGCTGTGTGTGTCGGGTGTGCGGTGAGCTTCTCGCCCTGATAAATCTCCTATTAAAACACGGAAAAGGTGGGTGGCGGGGAGGCCCAGGTTCCTCCTATCCTGCTCTGAATTCACAGTCTCTCAATAACCCGGGAGACAGCTGCCACCTGAGCAGGGCCGGGCATTTAGAGAGTGACTGACCAGCCCCTTCTCTGATTCTAGGGGACCCCTGGAAAGCCAGGACCGCGGGGGCAGCGAGGCCCAACGGTAACCACCCTTTCAGCTTGTGGGCATGTTTGGGAAACGGGAGCATGGTTTAGGGAGCACGTGCCAGGGGCTGGGGGAAGGCAGTGTCTGTGTGTCGGGACTTGAGCTGACCTTCCTTCTCTCCCATCTGTCCAGGGTCCGAGGGGTGAAAGAGGCCCCCGGGGCATCACTGGGAAGCCTGGCCCCAAGGTATGTTTTTGGCCTCCTGGGCGGTGGGCGGCGTGAACCCAAGTTGCAAGGCTACAGAGACGTGGAGCGTCTGAGGGTGTCTGTGACCTTTTTTATTAAAAAAAAAAAAAAAGGCAGGACATTTTCTTAGGTGTGTTTAAGAAGCTTGTCCCCTCCAGCAGCCTCTGGATGCCTCAGATCAGATGTAATTAAGTGGCTGAGAACGATGGTCATGAGAAGTGGCCCCAGCAGAGCAGGGACAGGGCCTCGCCCCAACACCTGGGACCCCAAAGACGGCAGCAGGGGGCCAGGCCCACCGCAGACTCACCCGCCCTGGTCGGGAGGCCCCATTTCCTCTCTTGAAAGGGGTTTGAGAGCTGCAGAGGCCTCTACCAGAACCTACAGAAAGTGCTTTCTGGCAGGGGAAGGCCCAGGCCGGCCTCATGCACATTCTTCCCACCGAGGGGCATTGAAGCCACTCCTTGGGTGGAGAATCTGGACACAGACCCAGCAGGCAGGCTACTCCTACCTGTCCAGGATGCCACTCCAGAGCGGGTTCCTGCTGGGATGAGTCTTCCAAGGGCTGAGGGGCCGAGCTGGCCCGTCCCTCGGCTGACCGGAATGCACCCACAGGCCACCCTGAACTCCTCCAGGACAAGCTCTGGGGCACTTCTCGTGTGCCCCGTGACCTGACCTGAGGCTCACCTATGAGAACTCAGAGCAGCAGCTGTCACATGGGGGTGGCCCTAGAGCGGGTCCCTGCGTTCTGCCTTTGCATGACTTTTCCAGGTGCTCGAGGCTGGGGCACAGCCTTTGTCCCACTCAGGAGACTGTTCTGGAAATGTCCAGCCTTGTAGACACTGGGCTGTCAGCTGCATGCAGAGGCACGGGGACAGGCAGGCTTTGATAGCCACAGATCAGCGCCAATGCCTTCTGCCCCTTACTGAGGGTCAGGGCCACCTTCAGGGGTGCACACAGGCAATATTTGACTCAGACGTTTTGATGACGTTGTGGGCCAGAGTCTTTTCATCCAAATAATAACAATCATAAGCTTTTCCCCCCTCTCCTTCCCTCTCAAGGGCAACTCCGGAGGTGACGGCCCAGCTGGCCCTCCTGGTGAACGGGTAAGCAGCTGGAGCCTTCGGGGGTGTCTCCAAGGGCAGAGCCTGCCTCGAATGCCCCCTGCACTTTGTCCTGGGGTGGGCTGGGGCCAGGGAGGCACGCCTCAGACCCTGCTGAAGGGTAGGGTTTTCCTAAGATCCCAAGGGTGGGTCACGCCCTGGGAGTGAACTCTTCCGTAGGTCAGGGGCCTCGACCGCAGCCCTGGTCTTGGGGTTTGGGAGTGGCCGAGATGACAGGAAATGGGTCCTGGGCCCCATCCTGCCCCCGAGGGTGAGGCAGGGTGAGGGAGGGGCTGGAATAATGGAGGAAAGGCCATGGGGGTGGGAAGAAATGACACCTGCGTTCAGAGAGCCACCGGCACAGGCAGGTCAGCGGCAGGAGCTGCTCGGGAGAGACCTCTTGTCCTCAAACTGGCCTTTCTCTGTTCCCAGGGACCCAATGGACCCCAAGGACCCACAGGATTTCCTGGACCAAAGGGCCCCCTGTAAGTAATGGCTTCCTTGCTGGGCCAGCACTGCCTGTCCCCTCCAAAACCCACCTGTCCCCTCCAAAACCCGCCTGTTTTCTCTGAGGTCTGCTCGGAGCTCCTCACAGTGGCCGGTGGGTGGAGGGAGGCCCGAGGTGAAATTCTGGCTGGTCAGATGAGGGGGAGACCCCCCCACCGCCAAGGCGGCTGTGGGGCAGTCTGTGGCTGTGTCCCACTGCCGGGCCCGCTGGCACTGGAGAGGGCTGCACGCTGGGGTCCTCTCTCCTTGAGACTGAAGTGATTTTCTCTGAGTTCTGTGTTAGTGCCCTGGGGCCGCCATCACAAATGACCAGGAACTGGCTTAGAACTGGGTGTGGCTCTTCTGTCACAGCCCTGGGGGCCAGAAGTTGGAGAGCAAAGTGTGGTCAGTCAGAGCTGGCACCTTCTGGAAGCTCTAGGGGAGATGGGGTACCAGGCCTCTCCCGGGGGCTGGTAGCTGCTGCCAGTCCTTGGCACCCAGTGGCCTGTGCACACTCACCCTGGCCACTGCCCCCATCTTCACGTGGACTTCCGTCTGTGTCTCTCTGTCTTCTAATCTCTTTCTTTTTTTGTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCATTGGCTCGATCTCGGCTCACTGCAAACTCTGCCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGATGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGCCACCGTGCCCGGAGCCCCCACGCCCGGCCATCTCTTTCATTTTATAAGGACACCAGTCACTGGGCTGGGCCCACACCCATCTAGGTTGGCTTCATCCTAATTCAGTTACACTGGCAAAAACCCCATTTCCAAGTGAGGTCACAGGCACAGGTTCTGGGGGTCAGAGCTTCCACATGTCCTTTTTGGGGACACACGTCGCCTTATGGCAGGTGTGATGTATCTCCTCCAGTATGGACAACCATCTAGCAGTGGGATTATGACCCAGCAGGCATGGCGGGGCTGGTGGGAGGAGGTTGGACTTTGCAACTGGACAGACTTGGGTCCTGGCACCGGCTGTGTCACCTGCTGGCTGGACCTCAGGATACCAACTGGCCTCTTATGCCTCGGTTTCTCCCTTGGTAGATGAGGGTGACAACAGCACGTCCCATGGGGCAGTTGTGAGGATTTTGTACGAGGACAGGCAGGAGCCAAGGACAGCTTTAGATTTGTTGTCACTGTCCCCGTGCCTGCCAGGTGATTGCTTTTCTCAGAGGATGTGCAGGGGCAGGAGCCATGGAAATAACGGTCACTCCACGTGGCATTAATTCTCAAAGGTGGTTGCTTCTCAGACACGAATGAACCTCCTTTCCTTTGGTTTTTTCTTCAGGGCCCTCCAGGCAAGGATGGACTCCCAGGACACCCTGGACAGAGAGGCGAGACTGTGAGTATCGAGGGTGCTGGGGGACGTGGCTGGCTGGCTCTCTGACCACCCTGCACGTGGGCACAGCCCTCGCTGCCCAGCGCCATCTAGGACCCTCCTGGCCTGGGAGAGACAGGTTGGCCTCAGAAAGGCTCCCAAGGGCCGGGCCGGCTTCCGCTGACTCAGAGCCAGGCTGTGAGGCAGGGCCAGGGCAGAGCAGTCATGCAGGCCGGCAGCGCCTTATGGCATCTGTGGGCAGAAGGCAGGTGTTGGCTTTGGGCTGGTTTTGGAAACTTTGGTGAGAGGCCACATTTAAAGACACACACAGATTATCCTGGGCCGACTGAAGCCTCATGCATCCAGCCTTATTTTCCCTCTAGAATAATGCTGAGTGCTACCCCGCTTGAGGGATACGTCTTTTAATTGAGAAAGTGCTGGGAAAGGGTCTACATGTTACTCAGCGTCATTCAGTCATTCGATGCTGCAATACTTCAAGAGGGCN | pathogenic | 154,156 |
Does the variant impacting COL5A1 (collagen type V alpha 1 chain) on chromosome 9, position 134798460, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Ehlers-Danlos_syndrome', 'Ehlers-Danlos_syndrome,_classic_type,_1'] | TGAACGGGTAAGCAGCTGGAGCCTTCGGGGGTGTCTCCAAGGGCAGAGCCTGCCTCGAATGCCCCCTGCACTTTGTCCTGGGGTGGGCTGGGGCCAGGGAGGCACGCCTCAGACCCTGCTGAAGGGTAGGGTTTTCCTAAGATCCCAAGGGTGGGTCACGCCCTGGGAGTGAACTCTTCCGTAGGTCAGGGGCCTCGACCGCAGCCCTGGTCTTGGGGTTTGGGAGTGGCCGAGATGACAGGAAATGGGTCCTGGGCCCCATCCTGCCCCCGAGGGTGAGGCAGGGTGAGGGAGGGGCTGGAATAATGGAGGAAAGGCCATGGGGGTGGGAAGAAATGACACCTGCGTTCAGAGAGCCACCGGCACAGGCAGGTCAGCGGCAGGAGCTGCTCGGGAGAGACCTCTTGTCCTCAAACTGGCCTTTCTCTGTTCCCAGGGACCCAATGGACCCCAAGGACCCACAGGATTTCCTGGACCAAAGGGCCCCCCTGTAAGTAATGGCTTCCTTGCTGGGCCAGCACTGCCTGTCCCCTCCAAAACCCACCTGTCCCCTCCAAAACCCGCCTGTTTTCTCTGAGGTCTGCTCGGAGCTCCTCACAGTGGCCGGTGGGTGGAGGGAGGCCCGAGGTGAAATTCTGGCTGGTCAGATGAGGGGGAGACCCCCCCACCGCCAAGGCGGCTGTGGGGCAGTCTGTGGCTGTGTCCCACTGCCGGGCCCGCTGGCACTGGAGAGGGCTGCACGCTGGGGTCCTCTCTCCTTGAGACTGAAGTGATTTTCTCTGAGTTCTGTGTTAGTGCCCTGGGGCCGCCATCACAAATGACCAGGAACTGGCTTAGAACTGGGTGTGGCTCTTCTGTCACAGCCCTGGGGGCCAGAAGTTGGAGAGCAAAGTGTGGTCAGTCAGAGCTGGCACCTTCTGGAAGCTCTAGGGGAGATGGGGTACCAGGCCTCTCCCGGGGGCTGGTAGCTGCTGCCAGTCCTTGGCACCCAGTGGCCTGTGCACACTCACCCTGGCCACTGCCCCCATCTTCACGTGGACTTCCGTCTGTGTCTCTCTGTCTTCTAATCTCTTTCTTTTTTTGTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCATTGGCTCGATCTCGGCTCACTGCAAACTCTGCCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGATGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGCCACCGTGCCCGGAGCCCCCACGCCCGGCCATCTCTTTCATTTTATAAGGACACCAGTCACTGGGCTGGGCCCACACCCATCTAGGTTGGCTTCATCCTAATTCAGTTACACTGGCAAAAACCCCATTTCCAAGTGAGGTCACAGGCACAGGTTCTGGGGGTCAGAGCTTCCACATGTCCTTTTTGGGGACACACGTCGCCTTATGGCAGGTGTGATGTATCTCCTCCAGTATGGACAACCATCTAGCAGTGGGATTATGACCCAGCAGGCATGGCGGGGCTGGTGGGAGGAGGTTGGACTTTGCAACTGGACAGACTTGGGTCCTGGCACCGGCTGTGTCACCTGCTGGCTGGACCTCAGGATACCAACTGGCCTCTTATGCCTCGGTTTCTCCCTTGGTAGATGAGGGTGACAACAGCACGTCCCATGGGGCAGTTGTGAGGATTTTGTACGAGGACAGGCAGGAGCCAAGGACAGCTTTAGATTTGTTGTCACTGTCCCCGTGCCTGCCAGGTGATTGCTTTTCTCAGAGGATGTGCAGGGGCAGGAGCCATGGAAATAACGGTCACTCCACGTGGCATTAATTCTCAAAGGTGGTTGCTTCTCAGACACGAATGAACCTCCTTTCCTTTGGTTTTTTCTTCAGGGCCCTCCAGGCAAGGATGGACTCCCAGGACACCCTGGACAGAGAGGCGAGACTGTGAGTATCGAGGGTGCTGGGGGACGTGGCTGGCTGGCTCTCTGACCACCCTGCACGTGGGCACAGCCCTCGCTGCCCAGCGCCATCTAGGACCCTCCTGGCCTGGGAGAGACAGGTTGGCCTCAGAAAGGCTCCCAAGGGCCGGGCCGGCTTCCGCTGACTCAGAGCCAGGCTGTGAGGCAGGGCCAGGGCAGAGCAGTCATGCAGGCCGGCAGCGCCTTATGGCATCTGTGGGCAGAAGGCAGGTGTTGGCTTTGGGCTGGTTTTGGAAACTTTGGTGAGAGGCCACATTTAAAGACACACACAGATTATCCTGGGCCGACTGAAGCCTCATGCATCCAGCCTTATTTTCCCTCTAGAATAATGCTGAGTGCTACCCCGCTTGAGGGATACGTCTTTTAATTGAGAAAGTGCTGGGAAAGGGTCTACATGTTACTCAGCGTCATTCAGTCATTCGATGCTGCAATACTTCAAGAGGGCGGCTGTGGGCCATGCACCAACCCCACCCACGTTCACCCGGGCCCTTCCAGCTCCAATCCAGGGGGTCTGGAGGATGCCTGCAATGTCCCTTTTTACACTAAAGAAAACAAGCGCCAGTCAGGTGGAAGTGGCCTCTAACTAGTCACTCCGCTGGGCACATGGTCTTTGTAGTCAGAGACTCCCCTTTGACCTTGCCCTTCACTTTAGAAATGCATATCACAGGCTACTTCATCCAGACCAGAAAGGACTCCAGTGTTTTCAGTTGGGAGAAAAAGCCCTCATCAGAAATGGGATCATTTTCCTGGCCCCATCAGCCCTTCGAAATTTGGCCCAGCTCCCTAAAGGTGTGTTTCAGGAAAGGGTGCAGGCACGCCTGTAACCTGGCCCACACCTACAAGCTTGGGGCTCCAGGCTCTGAATATCTGGGGACGTGCAGTGTCGGGTGACTTCCTCGTCACCACGCTGTGTTCCTTCTCCGAGTGCCCACCTACTCTGTCCAGCTTAAAGGATGAATTGCACAGATGCAAACATTTCCCACAGAGGAGAGTGAGGGGCATGCCAGGATCACTGCAAGGGTCCCTGCAGCCAGGTTTCTAGGGATCAAGGTCTCTACAGGACTCTCCCAGCAAAAGCAGGTCCCCTCGTGGAATGGGTCTCTGAGTGCCCTGTTGAATATATTCTCCATGCCTGCTTTGAAAAAATCCCCTTTGTCTCTCTTTGGTTCATCGTGATGAAACCTCTTTTAATTATACCTTCACTGGTGTTCTGCACGGCGCATGCTGCCTGATAAATGGAGATTGCTTTGCTCTTTTGTTTATAGAGAAAAATTAAAACATTTCTTCTGAGCTTTGCATATTTTTCTCTAATGCCTTTTCAAGGAGACAAGATAGAAGGTTTTACATATTATGTGCTTTTCTCCCTCTGACTTATTCTGGACGGAGGCTGGTGAAAGAATTAAGCTGCTTGTCTCTGCTCAGAAAGTTGCACATGTACTTCCGGCTGCCTTCTGCCACCCCGGCCACCTCTCTAGACACATGGCGCTGGAGTGATGCCTGTGTCTCTGAGAGCCACTTGGGACATAGCATCTCCTCCATGGGCTAGTCCAGACAAGCCTTCCAGAAAGAGCTTCTCTGCAGTGTTGATTTCCTTCTTTTTTAAAAATATGAAACACCAACGGTCATTATTTCTCCTAAATGTGAGCCAGAAACTTATTTCTCAGCAAAGGGCTAAGGTCATATTCTGTCCTCAACAGCCAGGGTGGCCGAGGGCCCTGGGGAGGCCTTTTTTGTTTCGTGTTAACTTTGACATTAGCAAAACTTAACCAAGGCTCCGATCTCCCTTCAGGCTCTTGAGCTCTTCTCCCCGGGTCCACTGAGCAGGGCATGCCCTTGACACCCATCCACCGTTCCTTACTTCTGACCCCATAAGTGCAATGAACATTAGAAACGATCATTCTAGCCCACAGCTGAGCTGGGCTTAAAGAGGCGAGCCCTCCTAGAGTTTGCAAAGAAGCTAAGTCTGGGCTGGGCACAGTGGCTCACGCCTGCAATCCCAACACTTTGGGAG | TGAACGGGTAAGCAGCTGGAGCCTTCGGGGGTGTCTCCAAGGGCAGAGCCTGCCTCGAATGCCCCCTGCACTTTGTCCTGGGGTGGGCTGGGGCCAGGGAGGCACGCCTCAGACCCTGCTGAAGGGTAGGGTTTTCCTAAGATCCCAAGGGTGGGTCACGCCCTGGGAGTGAACTCTTCCGTAGGTCAGGGGCCTCGACCGCAGCCCTGGTCTTGGGGTTTGGGAGTGGCCGAGATGACAGGAAATGGGTCCTGGGCCCCATCCTGCCCCCGAGGGTGAGGCAGGGTGAGGGAGGGGCTGGAATAATGGAGGAAAGGCCATGGGGGTGGGAAGAAATGACACCTGCGTTCAGAGAGCCACCGGCACAGGCAGGTCAGCGGCAGGAGCTGCTCGGGAGAGACCTCTTGTCCTCAAACTGGCCTTTCTCTGTTCCCAGGGACCCAATGGACCCCAAGGACCCACAGGATTTCCTGGACCAAAGGGCCCCCCTGTAAGTAATGGCTTCCTTGCTGGGCCAGCACTGCCTGTCCCCTCCAAAACCCACCTGTCCCCTCCAAAACCCGCCTGTTTTCTCTGAGGTCTGCTCGGAGCTCCTCACAGTGGCCGGTGGGTGGAGGGAGGCCCGAGGTGAAATTCTGGCTGGTCAGATGAGGGGGAGACCCCCCCACCGCCAAGGCGGCTGTGGGGCAGTCTGTGGCTGTGTCCCACTGCCGGGCCCGCTGGCACTGGAGAGGGCTGCACGCTGGGGTCCTCTCTCCTTGAGACTGAAGTGATTTTCTCTGAGTTCTGTGTTAGTGCCCTGGGGCCGCCATCACAAATGACCAGGAACTGGCTTAGAACTGGGTGTGGCTCTTCTGTCACAGCCCTGGGGGCCAGAAGTTGGAGAGCAAAGTGTGGTCAGTCAGAGCTGGCACCTTCTGGAAGCTCTAGGGGAGATGGGGTACCAGGCCTCTCCCGGGGGCTGGTAGCTGCTGCCAGTCCTTGGCACCCAGTGGCCTGTGCACACTCACCCTGGCCACTGCCCCCATCTTCACGTGGACTTCCGTCTGTGTCTCTCTGTCTTCTAATCTCTTTCTTTTTTTGTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCATTGGCTCGATCTCGGCTCACTGCAAACTCTGCCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGATGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGCCACCGTGCCCGGAGCCCCCACGCCCGGCCATCTCTTTCATTTTATAAGGACACCAGTCACTGGGCTGGGCCCACACCCATCTAGGTTGGCTTCATCCTAATTCAGTTACACTGGCAAAAACCCCATTTCCAAGTGAGGTCACAGGCACAGGTTCTGGGGGTCAGAGCTTCCACATGTCCTTTTTGGGGACACACGTCGCCTTATGGCAGGTGTGATGTATCTCCTCCAGTATGGACAACCATCTAGCAGTGGGATTATGACCCAGCAGGCATGGCGGGGCTGGTGGGAGGAGGTTGGACTTTGCAACTGGACAGACTTGGGTCCTGGCACCGGCTGTGTCACCTGCTGGCTGGACCTCAGGATACCAACTGGCCTCTTATGCCTCGGTTTCTCCCTTGGTAGATGAGGGTGACAACAGCACGTCCCATGGGGCAGTTGTGAGGATTTTGTACGAGGACAGGCAGGAGCCAAGGACAGCTTTAGATTTGTTGTCACTGTCCCCGTGCCTGCCAGGTGATTGCTTTTCTCAGAGGATGTGCAGGGGCAGGAGCCATGGAAATAACGGTCACTCCACGTGGCATTAATTCTCAAAGGTGGTTGCTTCTCAGACACGAATGAACCTCCTTTCCTTTGGTTTTTTCTTCAGGGCCCTCCAGGCAAGGATGGACTCCCAGGACACCCTGGACAGAGAGGCGAGACTGAGTATCGAGGGTGCTGGGGGACGTGGCTGGCTGGCTCTCTGACCACCCTGCACGTGGGCACAGCCCTCGCTGCCCAGCGCCATCTAGGACCCTCCTGGCCTGGGAGAGACAGGTTGGCCTCAGAAAGGCTCCCAAGGGCCGGGCCGGCTTCCGCTGACTCAGAGCCAGGCTGTGAGGCAGGGCCAGGGCAGAGCAGTCATGCAGGCCGGCAGCGCCTTATGGCATCTGTGGGCAGAAGGCAGGTGTTGGCTTTGGGCTGGTTTTGGAAACTTTGGTGAGAGGCCACATTTAAAGACACACACAGATTATCCTGGGCCGACTGAAGCCTCATGCATCCAGCCTTATTTTCCCTCTAGAATAATGCTGAGTGCTACCCCGCTTGAGGGATACGTCTTTTAATTGAGAAAGTGCTGGGAAAGGGTCTACATGTTACTCAGCGTCATTCAGTCATTCGATGCTGCAATACTTCAAGAGGGCGGCTGTGGGCCATGCACCAACCCCACCCACGTTCACCCGGGCCCTTCCAGCTCCAATCCAGGGGGTCTGGAGGATGCCTGCAATGTCCCTTTTTACACTAAAGAAAACAAGCGCCAGTCAGGTGGAAGTGGCCTCTAACTAGTCACTCCGCTGGGCACATGGTCTTTGTAGTCAGAGACTCCCCTTTGACCTTGCCCTTCACTTTAGAAATGCATATCACAGGCTACTTCATCCAGACCAGAAAGGACTCCAGTGTTTTCAGTTGGGAGAAAAAGCCCTCATCAGAAATGGGATCATTTTCCTGGCCCCATCAGCCCTTCGAAATTTGGCCCAGCTCCCTAAAGGTGTGTTTCAGGAAAGGGTGCAGGCACGCCTGTAACCTGGCCCACACCTACAAGCTTGGGGCTCCAGGCTCTGAATATCTGGGGACGTGCAGTGTCGGGTGACTTCCTCGTCACCACGCTGTGTTCCTTCTCCGAGTGCCCACCTACTCTGTCCAGCTTAAAGGATGAATTGCACAGATGCAAACATTTCCCACAGAGGAGAGTGAGGGGCATGCCAGGATCACTGCAAGGGTCCCTGCAGCCAGGTTTCTAGGGATCAAGGTCTCTACAGGACTCTCCCAGCAAAAGCAGGTCCCCTCGTGGAATGGGTCTCTGAGTGCCCTGTTGAATATATTCTCCATGCCTGCTTTGAAAAAATCCCCTTTGTCTCTCTTTGGTTCATCGTGATGAAACCTCTTTTAATTATACCTTCACTGGTGTTCTGCACGGCGCATGCTGCCTGATAAATGGAGATTGCTTTGCTCTTTTGTTTATAGAGAAAAATTAAAACATTTCTTCTGAGCTTTGCATATTTTTCTCTAATGCCTTTTCAAGGAGACAAGATAGAAGGTTTTACATATTATGTGCTTTTCTCCCTCTGACTTATTCTGGACGGAGGCTGGTGAAAGAATTAAGCTGCTTGTCTCTGCTCAGAAAGTTGCACATGTACTTCCGGCTGCCTTCTGCCACCCCGGCCACCTCTCTAGACACATGGCGCTGGAGTGATGCCTGTGTCTCTGAGAGCCACTTGGGACATAGCATCTCCTCCATGGGCTAGTCCAGACAAGCCTTCCAGAAAGAGCTTCTCTGCAGTGTTGATTTCCTTCTTTTTTAAAAATATGAAACACCAACGGTCATTATTTCTCCTAAATGTGAGCCAGAAACTTATTTCTCAGCAAAGGGCTAAGGTCATATTCTGTCCTCAACAGCCAGGGTGGCCGAGGGCCCTGGGGAGGCCTTTTTTGTTTCGTGTTAACTTTGACATTAGCAAAACTTAACCAAGGCTCCGATCTCCCTTCAGGCTCTTGAGCTCTTCTCCCCGGGTCCACTGAGCAGGGCATGCCCTTGACACCCATCCACCGTTCCTTACTTCTGACCCCATAAGTGCAATGAACATTAGAAACGATCATTCTAGCCCACAGCTGAGCTGGGCTTAAAGAGGCGAGCCCTCCTAGAGTTTGCAAAGAAGCTAAGTCTGGGCTGGGCACAGTGGCTCACGCCTGCAATCCCAACACTTTGGGAGNN | pathogenic | 154,165 |
Variant in COL5A1 (collagen type V alpha 1 chain), chromosome 9, position 134801982—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Ehlers-Danlos_syndrome,_classic_type,_1'] | CTTCCGGCTGCCTTCTGCCACCCCGGCCACCTCTCTAGACACATGGCGCTGGAGTGATGCCTGTGTCTCTGAGAGCCACTTGGGACATAGCATCTCCTCCATGGGCTAGTCCAGACAAGCCTTCCAGAAAGAGCTTCTCTGCAGTGTTGATTTCCTTCTTTTTTAAAAATATGAAACACCAACGGTCATTATTTCTCCTAAATGTGAGCCAGAAACTTATTTCTCAGCAAAGGGCTAAGGTCATATTCTGTCCTCAACAGCCAGGGTGGCCGAGGGCCCTGGGGAGGCCTTTTTTGTTTCGTGTTAACTTTGACATTAGCAAAACTTAACCAAGGCTCCGATCTCCCTTCAGGCTCTTGAGCTCTTCTCCCCGGGTCCACTGAGCAGGGCATGCCCTTGACACCCATCCACCGTTCCTTACTTCTGACCCCATAAGTGCAATGAACATTAGAAACGATCATTCTAGCCCACAGCTGAGCTGGGCTTAAAGAGGCGAGCCCTCCTAGAGTTTGCAAAGAAGCTAAGTCTGGGCTGGGCACAGTGGCTCACGCCTGCAATCCCAACACTTTGGGAGGCCGAGATGGGCGGATCACCTGAGGTCGGGAGTTTGAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATCCGGGAGGTGGAGGCTGCCGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAGGAGTGAAACTCTGTCTCAAACAAAAAAAAAAAAAAAAAAAAAAAAGAAGCTAGTCTGCTGTGGGTTCATGTGGCCCCGTGGCTTGGTGTGAGGTTTTGCCTCTGACTGCTGGACAGTGAGTCAGTGAGCCCAGGCCTGAGGCCGCTCACCCTCCAGCCCTAGCTTGGCCTCAGGGCCAGCCACCTTCTCCTCCAGCGTCTAGAGTTTGCCTCGAGGCCTCCGGGTAGAAGGTGTGCATGTCTCCACCAGTGTCATGTGGCACCTGCAGATGGCTTCTCGCTGGCACCTGTCATGCTCTGCAGACGTGCCTGGAAAAGAAGCTTATGTTGCCTTAAGGTCATCTTTCTCCTTTGAGGGAGAGTACAGAAGTCGTGGCGACACCCACAGCCAAGCCAGGATCGTTATCTACGCGTGAGCATGCAGAGCGGGCGTGAGATATTCCCGCTGAATCAAGCTAAAAATAACGCATCCAAGCTGCCGAGTTATGAAAGCAGCTGGCCCTCGCTCTTGCCTGTTTTAAATACATGCTGAGGAGCACGCGGGCAGAGTCACCCGTCGTGCATCAGAGGCGTTCACGCCAAAGCAGGTCAGTCGTCACAGAGCCACTGCTGAGAAACAGCCAGAGGTAGTCGCGGGTCCAGAAAGGGCACCAAGCCAACTCAGAAAAGGAGCGTTTGGTGACATGATAAAGGCGAATCGCGTCGGCCTAAAGATGCAGAGGCAGGAGAGCAGCCAGTGAGATGAGCTTGTGTGGCTTCGTTACCCTCGTGAAATTAGTGCAAACGCACGGTGGCTCACGCCTGTAATCCCCGCACTTTGGGAGGCTGAGGCAGGTGGATCACGAGGTCAGGAGTTCGAGGCCAGCCTGACCAACATGGTGAAATCCTGTCTCTACTAAAAATACAAAAATTTGCCAGGTGTGATGGTGTGTGCCTGTAATCCCAGCTACCCAGGAGGGTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGACCCAAGATCGAGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTCCATCTGAAAAAAAAAAAAATGAAACAAGAGACATGGGCCTCTTACACAAAGTCTGGAACATCTACTCTGGGGGGAAGGGAGGTGGGGGGCAAGCGTCCTGCTGAGAACAGTGCAGGGCAGGGTGGCGCAGGCCACTGCAGCACCGTCAGTGCAGTGACTCTCTCTTCACAGGGTTTCCAAGGCAAGACCGGCCCTCCAGGCCCCCCCGGCGTGGTCGGCCCTCAGGTAAGCTCCAGCCTTCCCAGATTCCATGGGTCACTCGGTGTCACTTGCCCACAGGGAAGAGGGTCCCAGCCCGGGCATCTGTTCCCTCCACGATTCCGGAGGTGCAGGTACTGCTGAGAGGTTATCTTAGGTCCTGAATGTTGGTCAGCGTGAGGCTCGCCCCACGCAGGAGCAAGCACAGATGTGTTTGCCCTCAACACAAACCCAACACGCAGGGCAAGGAAGGCTGCCCAAGGCTCACAGGGTGGCTGGGGCCAGACCTGGGCCAGCTCAGGAGCTGGGCTCATCCCTGCTGTGGGTGTCCAAGGCAGCCGAGTCCTCCTGCCACTGGTCCCTGTGGGTGTCACGGGCCTGCGATTCTAACCGCAGACCAGTGGCAGATCAGTGTCAGGGGCAGCTTAGAGCCAGGATTGATGGCTTAGAGCTGCAGAACGGGGAGGGGTCACCTTGTGTCCTAGAAAGCGCACACCTCATGTAGCGGTGAGTAAGACGTAGACCTGCTGCAGCCACAGAACTGAAGGGCATGTGGGCTCTGCCCCTGGTGTGGCTTTTCTCCCATCCTTGGCCTGTCCTGTGGCTGAATCAGCCTCCCTCAGGGCACATCCCAGGAAGGCAGGCTTGGCCGTGCCTCCTGAAGGCGCCAGGTGGGGGAAGAGGGCCACGCGGGGCCCAGCAGATGCCAGGCAGTGAGCAGCGTACCAACACCCACCCTCTAGATTTTTGCCGGGAAGAGAAGGCTTGCAAAGGCACTTGGAGGTTTGGTGTGCCCGCAGCAGACCTTTGCGTCCATGACCAGGGCTGTCCTTAGATTTAGGAAGAGATTCTCACTCCCTTGCAAGTCACTCGAAACGTCTGTGGCTGACACTGATTTTCCCCACAGGGTCCCACGGGAGAAACGGGCCCAATGGGTGAGCGTGGCCACCCTGGGCCCCCTGGACCCCCCGGTGAACAGGGGCTTCCGGGCCTTGCTGGAAAAGAAGGGACGAAGGTGAGTTTCTGGAGCCTTCTGTGTCAGCTCAGGCGTTTCCTCAGGAATCATTTTGGGACTTTGTGTTTTTCTTGCCCTTTTCTGATGAATGGGTAATTCGTCAAACAGACGCTTCTCATGCCGGTTCACTCCCCAGACCGCACGTTTTGCTCACTTTTCCTTGATTCACTCCAGGAGTCGCGCTGACCTGCTCAGGGATGGGCTTGAAGGGGGAGCGCAGGGGTCACCACCATCCTCCACCCTCTGCTCTCTCCCCAGCTGCCAGCCCTGCTCCCAGAAATGGATAAAAAGCTCTGGGACTTCATGTGTCCATAACACGTTTAGCAGAAAGTGGTCCTTTTAAAAACCCCTCACCCCAGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTTGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAAGTTGAGACCAGCCTGGCCAACATGACGAAACCCCATCTGTACTAAAAATACAGAAATTAGCTGGGTGTGGTGGTGCGCACCTGTAATCCCACCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGTGCCAAGATCGTGCCAGTGCACTCCAGCCTGGTTAACACAAATGAAACTCTGTTTTTAAAAACAAAAAACAAAAAACACAGTGAAACCCCGTTTCTACTAAAAATACAAAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGCAGAATGGTGTGAACTCGGGGGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAGAAAAAAAAACAGCCCTCACCCCAAGAGCCTGAGAAATTATAAAAGTGAAAAGCAAACGTGTTTTTATCCCACCTCTTGGTGCCAGCTCCAACTGCCCCCTTTTCATATCTCCTCCCCTGGGCGCCCCAGGTTCACTGGCCATAACTTGCTGTGTTAGCACAAAAATAGCCCTTCCCTT | CTTCCGGCTGCCTTCTGCCACCCCGGCCACCTCTCTAGACACATGGCGCTGGAGTGATGCCTGTGTCTCTGAGAGCCACTTGGGACATAGCATCTCCTCCATGGGCTAGTCCAGACAAGCCTTCCAGAAAGAGCTTCTCTGCAGTGTTGATTTCCTTCTTTTTTAAAAATATGAAACACCAACGGTCATTATTTCTCCTAAATGTGAGCCAGAAACTTATTTCTCAGCAAAGGGCTAAGGTCATATTCTGTCCTCAACAGCCAGGGTGGCCGAGGGCCCTGGGGAGGCCTTTTTTGTTTCGTGTTAACTTTGACATTAGCAAAACTTAACCAAGGCTCCGATCTCCCTTCAGGCTCTTGAGCTCTTCTCCCCGGGTCCACTGAGCAGGGCATGCCCTTGACACCCATCCACCGTTCCTTACTTCTGACCCCATAAGTGCAATGAACATTAGAAACGATCATTCTAGCCCACAGCTGAGCTGGGCTTAAAGAGGCGAGCCCTCCTAGAGTTTGCAAAGAAGCTAAGTCTGGGCTGGGCACAGTGGCTCACGCCTGCAATCCCAACACTTTGGGAGGCCGAGATGGGCGGATCACCTGAGGTCGGGAGTTTGAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATCCGGGAGGTGGAGGCTGCCGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAGGAGTGAAACTCTGTCTCAAACAAAAAAAAAAAAAAAAAAAAAAAAGAAGCTAGTCTGCTGTGGGTTCATGTGGCCCCGTGGCTTGGTGTGAGGTTTTGCCTCTGACTGCTGGACAGTGAGTCAGTGAGCCCAGGCCTGAGGCCGCTCACCCTCCAGCCCTAGCTTGGCCTCAGGGCCAGCCACCTTCTCCTCCAGCGTCTAGAGTTTGCCTCGAGGCCTCCGGGTAGAAGGTGTGCATGTCTCCACCAGTGTCATGTGGCACCTGCAGATGGCTTCTCGCTGGCACCTGTCATGCTCTGCAGACGTGCCTGGAAAAGAAGCTTATGTTGCCTTAAGGTCATCTTTCTCCTTTGAGGGAGAGTACAGAAGTCGTGGCGACACCCACAGCCAAGCCAGGATCGTTATCTACGCGTGAGCATGCAGAGCGGGCGTGAGATATTCCCGCTGAATCAAGCTAAAAATAACGCATCCAAGCTGCCGAGTTATGAAAGCAGCTGGCCCTCGCTCTTGCCTGTTTTAAATACATGCTGAGGAGCACGCGGGCAGAGTCACCCGTCGTGCATCAGAGGCGTTCACGCCAAAGCAGGTCAGTCGTCACAGAGCCACTGCTGAGAAACAGCCAGAGGTAGTCGCGGGTCCAGAAAGGGCACCAAGCCAACTCAGAAAAGGAGCGTTTGGTGACATGATAAAGGCGAATCGCGTCGGCCTAAAGATGCAGAGGCAGGAGAGCAGCCAGTGAGATGAGCTTGTGTGGCTTCGTTACCCTCGTGAAATTAGTGCAAACGCACGGTGGCTCACGCCTGTAATCCCCGCACTTTGGGAGGCTGAGGCAGGTGGATCACGAGGTCAGGAGTTCGAGGCCAGCCTGACCAACATGGTGAAATCCTGTCTCTACTAAAAATACAAAAATTTGCCAGGTGTGATGGTGTGTGCCTGTAATCCCAGCTACCCAGGAGGGTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGACCCAAGATCGAGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTCCATCTGAAAAAAAAAAAAATGAAACAAGAGACATGGGCCTCTTACACAAAGTCTGGAACATCTACTCTGGGGGGAAGGGAGGTGGGGGGCAAGCGTCCTGCTGAGAACAGTGCAGGGCAGGGTGGCGCAGGCCACTGCAGCACCGTCAGTGCAGTGACTCTCTCTTCACAGGGTTTCCAAGGCAAGACCGGCCCTCCAGGCCCCCCCCGGCGTGGTCGGCCCTCAGGTAAGCTCCAGCCTTCCCAGATTCCATGGGTCACTCGGTGTCACTTGCCCACAGGGAAGAGGGTCCCAGCCCGGGCATCTGTTCCCTCCACGATTCCGGAGGTGCAGGTACTGCTGAGAGGTTATCTTAGGTCCTGAATGTTGGTCAGCGTGAGGCTCGCCCCACGCAGGAGCAAGCACAGATGTGTTTGCCCTCAACACAAACCCAACACGCAGGGCAAGGAAGGCTGCCCAAGGCTCACAGGGTGGCTGGGGCCAGACCTGGGCCAGCTCAGGAGCTGGGCTCATCCCTGCTGTGGGTGTCCAAGGCAGCCGAGTCCTCCTGCCACTGGTCCCTGTGGGTGTCACGGGCCTGCGATTCTAACCGCAGACCAGTGGCAGATCAGTGTCAGGGGCAGCTTAGAGCCAGGATTGATGGCTTAGAGCTGCAGAACGGGGAGGGGTCACCTTGTGTCCTAGAAAGCGCACACCTCATGTAGCGGTGAGTAAGACGTAGACCTGCTGCAGCCACAGAACTGAAGGGCATGTGGGCTCTGCCCCTGGTGTGGCTTTTCTCCCATCCTTGGCCTGTCCTGTGGCTGAATCAGCCTCCCTCAGGGCACATCCCAGGAAGGCAGGCTTGGCCGTGCCTCCTGAAGGCGCCAGGTGGGGGAAGAGGGCCACGCGGGGCCCAGCAGATGCCAGGCAGTGAGCAGCGTACCAACACCCACCCTCTAGATTTTTGCCGGGAAGAGAAGGCTTGCAAAGGCACTTGGAGGTTTGGTGTGCCCGCAGCAGACCTTTGCGTCCATGACCAGGGCTGTCCTTAGATTTAGGAAGAGATTCTCACTCCCTTGCAAGTCACTCGAAACGTCTGTGGCTGACACTGATTTTCCCCACAGGGTCCCACGGGAGAAACGGGCCCAATGGGTGAGCGTGGCCACCCTGGGCCCCCTGGACCCCCCGGTGAACAGGGGCTTCCGGGCCTTGCTGGAAAAGAAGGGACGAAGGTGAGTTTCTGGAGCCTTCTGTGTCAGCTCAGGCGTTTCCTCAGGAATCATTTTGGGACTTTGTGTTTTTCTTGCCCTTTTCTGATGAATGGGTAATTCGTCAAACAGACGCTTCTCATGCCGGTTCACTCCCCAGACCGCACGTTTTGCTCACTTTTCCTTGATTCACTCCAGGAGTCGCGCTGACCTGCTCAGGGATGGGCTTGAAGGGGGAGCGCAGGGGTCACCACCATCCTCCACCCTCTGCTCTCTCCCCAGCTGCCAGCCCTGCTCCCAGAAATGGATAAAAAGCTCTGGGACTTCATGTGTCCATAACACGTTTAGCAGAAAGTGGTCCTTTTAAAAACCCCTCACCCCAGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTTGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAAGTTGAGACCAGCCTGGCCAACATGACGAAACCCCATCTGTACTAAAAATACAGAAATTAGCTGGGTGTGGTGGTGCGCACCTGTAATCCCACCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGTGCCAAGATCGTGCCAGTGCACTCCAGCCTGGTTAACACAAATGAAACTCTGTTTTTAAAAACAAAAAACAAAAAACACAGTGAAACCCCGTTTCTACTAAAAATACAAAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGCAGAATGGTGTGAACTCGGGGGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAGAAAAAAAAACAGCCCTCACCCCAAGAGCCTGAGAAATTATAAAAGTGAAAAGCAAACGTGTTTTTATCCCACCTCTTGGTGCCAGCTCCAACTGCCCCCTTTTCATATCTCCTCCCCTGGGCGCCCCAGGTTCACTGGCCATAACTTGCTGTGTTAGCACAAAAATAGCCCTTCCCT | pathogenic | 154,167 |
Is the variant located on chromosome 9 at position 134802944, gene COL5A1 (collagen type V alpha 1 chain), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Ehlers-Danlos_syndrome,_classic_type,_1', 'Familial_thoracic_aortic_aneurysm_and_aortic_dissection'] | CCTCAGGGCCAGCCACCTTCTCCTCCAGCGTCTAGAGTTTGCCTCGAGGCCTCCGGGTAGAAGGTGTGCATGTCTCCACCAGTGTCATGTGGCACCTGCAGATGGCTTCTCGCTGGCACCTGTCATGCTCTGCAGACGTGCCTGGAAAAGAAGCTTATGTTGCCTTAAGGTCATCTTTCTCCTTTGAGGGAGAGTACAGAAGTCGTGGCGACACCCACAGCCAAGCCAGGATCGTTATCTACGCGTGAGCATGCAGAGCGGGCGTGAGATATTCCCGCTGAATCAAGCTAAAAATAACGCATCCAAGCTGCCGAGTTATGAAAGCAGCTGGCCCTCGCTCTTGCCTGTTTTAAATACATGCTGAGGAGCACGCGGGCAGAGTCACCCGTCGTGCATCAGAGGCGTTCACGCCAAAGCAGGTCAGTCGTCACAGAGCCACTGCTGAGAAACAGCCAGAGGTAGTCGCGGGTCCAGAAAGGGCACCAAGCCAACTCAGAAAAGGAGCGTTTGGTGACATGATAAAGGCGAATCGCGTCGGCCTAAAGATGCAGAGGCAGGAGAGCAGCCAGTGAGATGAGCTTGTGTGGCTTCGTTACCCTCGTGAAATTAGTGCAAACGCACGGTGGCTCACGCCTGTAATCCCCGCACTTTGGGAGGCTGAGGCAGGTGGATCACGAGGTCAGGAGTTCGAGGCCAGCCTGACCAACATGGTGAAATCCTGTCTCTACTAAAAATACAAAAATTTGCCAGGTGTGATGGTGTGTGCCTGTAATCCCAGCTACCCAGGAGGGTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGACCCAAGATCGAGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTCCATCTGAAAAAAAAAAAAATGAAACAAGAGACATGGGCCTCTTACACAAAGTCTGGAACATCTACTCTGGGGGGAAGGGAGGTGGGGGGCAAGCGTCCTGCTGAGAACAGTGCAGGGCAGGGTGGCGCAGGCCACTGCAGCACCGTCAGTGCAGTGACTCTCTCTTCACAGGGTTTCCAAGGCAAGACCGGCCCTCCAGGCCCCCCCGGCGTGGTCGGCCCTCAGGTAAGCTCCAGCCTTCCCAGATTCCATGGGTCACTCGGTGTCACTTGCCCACAGGGAAGAGGGTCCCAGCCCGGGCATCTGTTCCCTCCACGATTCCGGAGGTGCAGGTACTGCTGAGAGGTTATCTTAGGTCCTGAATGTTGGTCAGCGTGAGGCTCGCCCCACGCAGGAGCAAGCACAGATGTGTTTGCCCTCAACACAAACCCAACACGCAGGGCAAGGAAGGCTGCCCAAGGCTCACAGGGTGGCTGGGGCCAGACCTGGGCCAGCTCAGGAGCTGGGCTCATCCCTGCTGTGGGTGTCCAAGGCAGCCGAGTCCTCCTGCCACTGGTCCCTGTGGGTGTCACGGGCCTGCGATTCTAACCGCAGACCAGTGGCAGATCAGTGTCAGGGGCAGCTTAGAGCCAGGATTGATGGCTTAGAGCTGCAGAACGGGGAGGGGTCACCTTGTGTCCTAGAAAGCGCACACCTCATGTAGCGGTGAGTAAGACGTAGACCTGCTGCAGCCACAGAACTGAAGGGCATGTGGGCTCTGCCCCTGGTGTGGCTTTTCTCCCATCCTTGGCCTGTCCTGTGGCTGAATCAGCCTCCCTCAGGGCACATCCCAGGAAGGCAGGCTTGGCCGTGCCTCCTGAAGGCGCCAGGTGGGGGAAGAGGGCCACGCGGGGCCCAGCAGATGCCAGGCAGTGAGCAGCGTACCAACACCCACCCTCTAGATTTTTGCCGGGAAGAGAAGGCTTGCAAAGGCACTTGGAGGTTTGGTGTGCCCGCAGCAGACCTTTGCGTCCATGACCAGGGCTGTCCTTAGATTTAGGAAGAGATTCTCACTCCCTTGCAAGTCACTCGAAACGTCTGTGGCTGACACTGATTTTCCCCACAGGGTCCCACGGGAGAAACGGGCCCAATGGGTGAGCGTGGCCACCCTGGGCCCCCTGGACCCCCCGGTGAACAGGGGCTTCCGGGCCTTGCTGGAAAAGAAGGGACGAAGGTGAGTTTCTGGAGCCTTCTGTGTCAGCTCAGGCGTTTCCTCAGGAATCATTTTGGGACTTTGTGTTTTTCTTGCCCTTTTCTGATGAATGGGTAATTCGTCAAACAGACGCTTCTCATGCCGGTTCACTCCCCAGACCGCACGTTTTGCTCACTTTTCCTTGATTCACTCCAGGAGTCGCGCTGACCTGCTCAGGGATGGGCTTGAAGGGGGAGCGCAGGGGTCACCACCATCCTCCACCCTCTGCTCTCTCCCCAGCTGCCAGCCCTGCTCCCAGAAATGGATAAAAAGCTCTGGGACTTCATGTGTCCATAACACGTTTAGCAGAAAGTGGTCCTTTTAAAAACCCCTCACCCCAGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTTGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAAGTTGAGACCAGCCTGGCCAACATGACGAAACCCCATCTGTACTAAAAATACAGAAATTAGCTGGGTGTGGTGGTGCGCACCTGTAATCCCACCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGTGCCAAGATCGTGCCAGTGCACTCCAGCCTGGTTAACACAAATGAAACTCTGTTTTTAAAAACAAAAAACAAAAAACACAGTGAAACCCCGTTTCTACTAAAAATACAAAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGCAGAATGGTGTGAACTCGGGGGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAGAAAAAAAAACAGCCCTCACCCCAAGAGCCTGAGAAATTATAAAAGTGAAAAGCAAACGTGTTTTTATCCCACCTCTTGGTGCCAGCTCCAACTGCCCCCTTTTCATATCTCCTCCCCTGGGCGCCCCAGGTTCACTGGCCATAACTTGCTGTGTTAGCACAAAAATAGCCCTTCCCTTTCAGCTCTTCAATAAGGAATGCAACAAAGGCAAGCTCTCCAGCCTGTAGGACCACAGAAGAGTAAACCTGAAAAATAATAAAGTGAAGCAAATGAAGAAATACTGAAAAAAATCACACACCCGGGTGTGCATGTAGATATAGGAATAAATACACATGTGTACATGCACACGTGTGTGTATTCTAGACACAAAGAGAGCTCTCCGAGCTTGGAAAGGCGGCCACGGGCATTTGACCTGCTCGTTTGAAAACAGCACTGTGCTCCATGTTGGACCCCAGAGAACATTTTGGAAGATATCAAAGCTTTACTGTACCTCAGGGAAAGTCGAGGCTAAGGGGTGACTTTTTTTCAGAAAATGTGGTTTCGGGCTTGAAGAAGTTCCTTAAGTGATAAGTCCATTTAGGACGATGCTTTTAATGCTATTTCGACCATGGATTTCTTTGTCTGAGCACGGTCTTACAAGGAGCCCCAAATCTATGGAAAAGATAGACGTGCCCTCAGCTCCCACATGGCCCATCGTAGCCCTTAAGGGCCTTGGGAGGAAGGACCCCGGAACTCCGTGGAGCAGGGGTAGAGTCAGATTTGCACGCAGAGCCCGCCAGATGAGCGTGGCTTCCAGGTGGAGGCTCAGGCTGTGCTCCCACGTGTGGGCTGCTGAGTCCAGTCACGACTCTGAAAAGTGGCCAGGAGAAGCCCAATCCAACCCAAGTCCAGGAGTGTCTGATGAGAAGGCCCCGACCCTTGGCCTTGCTCCGGGGCTGGTGAGAGGTCTGTGTCGCTGGCTCCAGGAGAGAAGGCCCCAACCCTTGGCCTCGCTCTGGGACTGGTGAGAGGTCTGCGTTGCTGGCTCCAAGAGAGAAGGCCCCAGCCCTTGGCTTCGCTCTGGGGCTGGTGAGAGGTCTGCGTCACTGGCTCCAGGAAAGCTCATCTCTGACTCTGTTTTCAGGGTGACCCAGGCCCTGC | CCTCAGGGCCAGCCACCTTCTCCTCCAGCGTCTAGAGTTTGCCTCGAGGCCTCCGGGTAGAAGGTGTGCATGTCTCCACCAGTGTCATGTGGCACCTGCAGATGGCTTCTCGCTGGCACCTGTCATGCTCTGCAGACGTGCCTGGAAAAGAAGCTTATGTTGCCTTAAGGTCATCTTTCTCCTTTGAGGGAGAGTACAGAAGTCGTGGCGACACCCACAGCCAAGCCAGGATCGTTATCTACGCGTGAGCATGCAGAGCGGGCGTGAGATATTCCCGCTGAATCAAGCTAAAAATAACGCATCCAAGCTGCCGAGTTATGAAAGCAGCTGGCCCTCGCTCTTGCCTGTTTTAAATACATGCTGAGGAGCACGCGGGCAGAGTCACCCGTCGTGCATCAGAGGCGTTCACGCCAAAGCAGGTCAGTCGTCACAGAGCCACTGCTGAGAAACAGCCAGAGGTAGTCGCGGGTCCAGAAAGGGCACCAAGCCAACTCAGAAAAGGAGCGTTTGGTGACATGATAAAGGCGAATCGCGTCGGCCTAAAGATGCAGAGGCAGGAGAGCAGCCAGTGAGATGAGCTTGTGTGGCTTCGTTACCCTCGTGAAATTAGTGCAAACGCACGGTGGCTCACGCCTGTAATCCCCGCACTTTGGGAGGCTGAGGCAGGTGGATCACGAGGTCAGGAGTTCGAGGCCAGCCTGACCAACATGGTGAAATCCTGTCTCTACTAAAAATACAAAAATTTGCCAGGTGTGATGGTGTGTGCCTGTAATCCCAGCTACCCAGGAGGGTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGACCCAAGATCGAGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTCCATCTGAAAAAAAAAAAAATGAAACAAGAGACATGGGCCTCTTACACAAAGTCTGGAACATCTACTCTGGGGGGAAGGGAGGTGGGGGGCAAGCGTCCTGCTGAGAACAGTGCAGGGCAGGGTGGCGCAGGCCACTGCAGCACCGTCAGTGCAGTGACTCTCTCTTCACAGGGTTTCCAAGGCAAGACCGGCCCTCCAGGCCCCCCCGGCGTGGTCGGCCCTCAGGTAAGCTCCAGCCTTCCCAGATTCCATGGGTCACTCGGTGTCACTTGCCCACAGGGAAGAGGGTCCCAGCCCGGGCATCTGTTCCCTCCACGATTCCGGAGGTGCAGGTACTGCTGAGAGGTTATCTTAGGTCCTGAATGTTGGTCAGCGTGAGGCTCGCCCCACGCAGGAGCAAGCACAGATGTGTTTGCCCTCAACACAAACCCAACACGCAGGGCAAGGAAGGCTGCCCAAGGCTCACAGGGTGGCTGGGGCCAGACCTGGGCCAGCTCAGGAGCTGGGCTCATCCCTGCTGTGGGTGTCCAAGGCAGCCGAGTCCTCCTGCCACTGGTCCCTGTGGGTGTCACGGGCCTGCGATTCTAACCGCAGACCAGTGGCAGATCAGTGTCAGGGGCAGCTTAGAGCCAGGATTGATGGCTTAGAGCTGCAGAACGGGGAGGGGTCACCTTGTGTCCTAGAAAGCGCACACCTCATGTAGCGGTGAGTAAGACGTAGACCTGCTGCAGCCACAGAACTGAAGGGCATGTGGGCTCTGCCCCTGGTGTGGCTTTTCTCCCATCCTTGGCCTGTCCTGTGGCTGAATCAGCCTCCCTCAGGGCACATCCCAGGAAGGCAGGCTTGGCCGTGCCTCCTGAAGGCGCCAGGTGGGGGAAGAGGGCCACGCGGGGCCCAGCAGATGCCAGGCAGTGAGCAGCGTACCAACACCCACCCTCTAGATTTTTGCCGGGAAGAGAAGGCTTGCAAAGGCACTTGGAGGTTTGGTGTGCCCGCAGCAGACCTTTGCGTCCATGACCAGGGCTGTCCTTAGATTTAGGAAGAGATTCTCACTCCCTTGCAAGTCACTCGAAACGTCTGTGGCTGACACTGATTTTCCCCACAGGGTCCCACGGGAGAAACGGGCCCAATGGGTGAGCGTGGCCACCCTGGGCCCCCTGGACCCCCCCGGTGAACAGGGGCTTCCGGGCCTTGCTGGAAAAGAAGGGACGAAGGTGAGTTTCTGGAGCCTTCTGTGTCAGCTCAGGCGTTTCCTCAGGAATCATTTTGGGACTTTGTGTTTTTCTTGCCCTTTTCTGATGAATGGGTAATTCGTCAAACAGACGCTTCTCATGCCGGTTCACTCCCCAGACCGCACGTTTTGCTCACTTTTCCTTGATTCACTCCAGGAGTCGCGCTGACCTGCTCAGGGATGGGCTTGAAGGGGGAGCGCAGGGGTCACCACCATCCTCCACCCTCTGCTCTCTCCCCAGCTGCCAGCCCTGCTCCCAGAAATGGATAAAAAGCTCTGGGACTTCATGTGTCCATAACACGTTTAGCAGAAAGTGGTCCTTTTAAAAACCCCTCACCCCAGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTTGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAAGTTGAGACCAGCCTGGCCAACATGACGAAACCCCATCTGTACTAAAAATACAGAAATTAGCTGGGTGTGGTGGTGCGCACCTGTAATCCCACCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGTGCCAAGATCGTGCCAGTGCACTCCAGCCTGGTTAACACAAATGAAACTCTGTTTTTAAAAACAAAAAACAAAAAACACAGTGAAACCCCGTTTCTACTAAAAATACAAAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGCAGAATGGTGTGAACTCGGGGGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAGAAAAAAAAACAGCCCTCACCCCAAGAGCCTGAGAAATTATAAAAGTGAAAAGCAAACGTGTTTTTATCCCACCTCTTGGTGCCAGCTCCAACTGCCCCCTTTTCATATCTCCTCCCCTGGGCGCCCCAGGTTCACTGGCCATAACTTGCTGTGTTAGCACAAAAATAGCCCTTCCCTTTCAGCTCTTCAATAAGGAATGCAACAAAGGCAAGCTCTCCAGCCTGTAGGACCACAGAAGAGTAAACCTGAAAAATAATAAAGTGAAGCAAATGAAGAAATACTGAAAAAAATCACACACCCGGGTGTGCATGTAGATATAGGAATAAATACACATGTGTACATGCACACGTGTGTGTATTCTAGACACAAAGAGAGCTCTCCGAGCTTGGAAAGGCGGCCACGGGCATTTGACCTGCTCGTTTGAAAACAGCACTGTGCTCCATGTTGGACCCCAGAGAACATTTTGGAAGATATCAAAGCTTTACTGTACCTCAGGGAAAGTCGAGGCTAAGGGGTGACTTTTTTTCAGAAAATGTGGTTTCGGGCTTGAAGAAGTTCCTTAAGTGATAAGTCCATTTAGGACGATGCTTTTAATGCTATTTCGACCATGGATTTCTTTGTCTGAGCACGGTCTTACAAGGAGCCCCAAATCTATGGAAAAGATAGACGTGCCCTCAGCTCCCACATGGCCCATCGTAGCCCTTAAGGGCCTTGGGAGGAAGGACCCCGGAACTCCGTGGAGCAGGGGTAGAGTCAGATTTGCACGCAGAGCCCGCCAGATGAGCGTGGCTTCCAGGTGGAGGCTCAGGCTGTGCTCCCACGTGTGGGCTGCTGAGTCCAGTCACGACTCTGAAAAGTGGCCAGGAGAAGCCCAATCCAACCCAAGTCCAGGAGTGTCTGATGAGAAGGCCCCGACCCTTGGCCTTGCTCCGGGGCTGGTGAGAGGTCTGTGTCGCTGGCTCCAGGAGAGAAGGCCCCAACCCTTGGCCTCGCTCTGGGACTGGTGAGAGGTCTGCGTTGCTGGCTCCAAGAGAGAAGGCCCCAGCCCTTGGCTTCGCTCTGGGGCTGGTGAGAGGTCTGCGTCACTGGCTCCAGGAAAGCTCATCTCTGACTCTGTTTTCAGGGTGACCCAGGCCCTG | pathogenic | 154,180 |
Gene COL5A1 (collagen type V alpha 1 chain) variant at chromosome 9, position 134809165—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | TTTTGCAGTGTCCCCTACCTCTGCATTCAATCAGCTCTGGAGACCAATTTAATCTCAACTTCTCCTTCCCAGTACAGAGGGTCAGAATGAGCTTGAGTTCTCCAGGGGAATTGGCAGATAATCGGTGCAGACCATCTCAAATTGAGTTAGGTCTGAGTGCTGATTGTTAGAAAGCTGTTTTCTTTCTCTTTTTTTGAGATGGAGTCTTGCTGTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGTGACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGATTACAGATGTGTGCTACCACACCCGGCTACTTTTGTACTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTACCCGCCTCAGCCTCCCAAGGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCAGAAACTGTGATTTTCTTGTACGTTTCACTCTCAGTGGCTCATGGGTGGCAGGAACAGCCTACATTCCCTGGGCAGGAACTTCCCTGGAAACCACATTGGAAACATCTGGGCCATTGAGAATCTGTTCAATACATTATTGGCAATTTTGGTGTCTTCTAATCATTTCCAGTGAGGCACCCAGGACATGGATCCAGCTGGATTCTGTGCCAGAAAACTGAAGCCAACTGGGCAGTCAGTGTATAGAGTGCACACAAAGTCAGCTGGAAATGGCTTGGTTCACAGTTTCAAGAGAGTAAATATTTGAGCAGAAACCTTGCAAGAGTTGCTCTATCCAGGCAGAAGCTCGTCATCCTCCCAGAATAGCTCCAGAGGGAAGGAAAGGCCAAGCAAAGGTTGGACGTCTCTGAGAACTCCCGACCTGACCAGGAATGTAGGACAGGAAGCTTCCACAAAAGCCCCACACGTGGTCTTTGCATTCTCTGGCTTAAGTAGGGTAGACATTTCTATGAATAGGAGCTCAGTTTGAGGAGCAGGACATGAATTGTGGAGGGAGGAATGGTAAGACGAAATAGTGATGGATGACTAAATCCCGGCTACATTTAGACCAGAACATTGAATGTACATTCTCTATTCCATGTTTCCCTTCCCAATGTGCACACCCTCCTTCTGTGTATCTGTCGGAAGATAGGGATCCCTGTCTGCAGTGAGAAAATATAGGCTGCTCACAGAGTGATGCGATGGCTGGTCAAACTGAGCAAAGCAAGAACTTAAGAAGGATCATTTGAGATTACCAAGCAGGCAGTTAGGAGGAAAATGAATCAAAGTTACAAGGACAGGAAAAATAGTGTGTGCGTATGCCTGCAAGCATGTCCTGTGTGTGTACCTGTGCGTGCATACTCATGTATGCATGCACATACATGTCAGTGTGCTTCTTTATATGTCCTTGTGTGTACATGTTGGTGCATATTCACACGTGTGCACATGTTGGTGCATATTCACACGTGTGCACATGCGAGTATGCTTGTTTTGTGCACATGCATGTGCATGCATGCATACCTGTGTACATAGGCGTGTTCACATGTGTGCATGTATGCACATGTGTGTGCGTACATGTCTTCATGTGTGAGCATGCATGTCCTTGTGTGTGTGTGCAGGGAGAGTGTCTGCAGAGAATGTAAAGAATCAGAAAGCTGGTGAAAGCTGGAGCTCAGGCTATCCTGGTGACTGGGCTTGGCTCCCGGTCACTAGCTTAGACAATCCACATACAGGCTCAAGAATTTGGCCGGCTGGATTTGGATCCTGTCTCTACTGCTCACTAACTGTGCCTCAGTTTCCCCATCTGTAAAAGAGCAGCCTTTCCTAGGATGAGTGTGGATTAATTGAAGCGATGCACCAGAAGTTCATGGTCCAGGGGCGGGCTCAGAGTCGGCCCTCAGTGGCCCTGGCTGAAATCCATTAGGACTGTGGGGACGGTCACCCTCACCAACTCCCACTTCCTGCCAGCGGATCCCTCTCTTGGGTAATGAGCTGGTGGGGGGATGTTCCCAGGTTGGAGCCACGTTTGACCTGAGATCTTCTGTATTCTCTAGGGCGAGAAAGGCCCACAAGGCCCAGCTGGCCGAGACGGTCTCCAGGGGCCTGTGGGGCTCCCGGGTCCAGCTGGCCCTGTGGGTCCCCCTGGAGAAGACGGAGATAAGGTAAGGCAAATCCAGAGTGACCCATGGCTGGGCCTGGCTGGGCAGACGGGTGTGGGGGAGGGTGGTGAATTTAAAGGACAGGATGCTGGCAGGTAGAGCGGCTCAGCCAGCGGAGTGATGCCACACCCACCCCGCAGTCCTGGCATTAGGGGATGATTTCACAGCAGCCCACTGGTAAATGGTAATACACGCCGTCCCCGGCACGCTCGAGGGACTTAGAAACCACACCCTCCTGTGTCATTTTGAGGTTGCCTGCAACATTTGCTGTGAGTAGCCACAGCAGAGAAAAATGCTCCCCGGTCCCCCCGAATAATTTCAAATTCCGAAACTGCGGAGCCCGGTTTAATGAGGTTTTGCTCAGTATCTATTTTTAAATGTCTCCGCTTGAATTATCCAGGCTCCCGTTCATTAAGAATGTGCTTTATAATTCCAAAACGATGGCTGCAGGAGCTTGCATTTTATCCTTCATTTAACGCAGACAGTGAAATTTCGCTGTGCTGTAACTTTCTATTGATGACCCCTCTCTGGGGACATTTCTGACTTTGTCACCTCTGCATGGATAATGCCTTACATCTCCGGGCGGGAGACAGCCTTGCACCGACAGGAACAACAGAGAGGATTTTAATAACTTCTTCGGCAACATAGTAATTGAGTTGCCTGTTGTTAGGTTGTCATGGTAGTGGCCCAATTTGAAAAACAGAGTAAATATTTTCAATATGACTTTTCCCACATCTTCAAGTCTACTAAAAGCCTGTCGAGCATCAGATCGAGACCTCGTCCCTTTTAGCCCTTGTATTAAAAAGGAAATCAAGCTAATATATGGAAACATTTATTCGTAGGAAAGTTTTAGGGCCACCTGGAAAGGACACTGTTCTTAATCTCCAAGAAAAATTCATTACGGGGAACAGAAAAGGTCCAAACGGTTGTCAAGCTTTCTAACCGAATCCCCCACACCTTCCCCTAGGGAGAGATCGGGGAGCCGGGGCAGAAAGGAAGCAAGGGGGACAAAGGAGAACAGGTAAGTATTGGCACGGGGGCGCGCGGCAGCCCCCAGGTCCCGGGGGGCCTCGTCGCAGGCTGTAGGCCGTGTGCCATGCACGTTCTCTTCCAACGTTGCTGATGACTAGCGGGACATGCTGTGAAAATCTCCCGTGCATGTGTGTTCCCACAACGTGTGTGTGTGCACACGCGTGCATATCTGGGAGTGAGTCTCTCTGTGTTAGAATGAACAGGAAGCATCCACCGGTTTTGCGAAATTAAATAAATGGAGTGTTTCTGTCCTAGAGGGCTTGGGTTCTGCAGACACACCCATTGCCCTCTGAGGTGAGGGAACCAGAATGCTCCGGCAGAGACAGCACCATTGACCAAATGCCTGTTCATTTTTCCCCTTTTGGTTTTTTCATCTGTTCAGAAATCCTAGTGGGTTCTTGCAAAAACCCCATGACTCTGCTACCAGCTCCCTCCCGATGAGTGACATGTCTTCTTATCCTGTACAGCCAGGCCTTTCCCCCAGTATGTTGATTCCTAGGCAAGCAGGATCCGTGCTCCTGGGAGGCCTGCCACAGAGGCTGTGTCCTTCTTCCAGCCGTGGGTTGGGCTACCAGGGCCAAGGGCACTGTACCCTCCTTGCTTGCCTCCTTCCCATGGTCCCATGCGGGAGGTCTCTTGAGGATGGCACAGCAGGGGACATGGTGCTGGGCGCAAGGGCTCCAGAGGAGCTTGTGATCCTGGACCCTCACTGTTGAAGGGGGCCTCACGTGCCCCTGTTGTGGGTGCATGATGGGAGCTGAGATGACACACGGTGGTCTCGAGAGACATTGGGGGCAGCTCTTTGCCATCCAGAAATGGGCTCAGGGTGGAACCAAGATCCTCATCTGCTTCCCAGAGCCTGCAGCAGGCTTGCATCGTGGTGCAAGGAACGA | TTTTGCAGTGTCCCCTACCTCTGCATTCAATCAGCTCTGGAGACCAATTTAATCTCAACTTCTCCTTCCCAGTACAGAGGGTCAGAATGAGCTTGAGTTCTCCAGGGGAATTGGCAGATAATCGGTGCAGACCATCTCAAATTGAGTTAGGTCTGAGTGCTGATTGTTAGAAAGCTGTTTTCTTTCTCTTTTTTTGAGATGGAGTCTTGCTGTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGTGACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGATTACAGATGTGTGCTACCACACCCGGCTACTTTTGTACTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTACCCGCCTCAGCCTCCCAAGGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCAGAAACTGTGATTTTCTTGTACGTTTCACTCTCAGTGGCTCATGGGTGGCAGGAACAGCCTACATTCCCTGGGCAGGAACTTCCCTGGAAACCACATTGGAAACATCTGGGCCATTGAGAATCTGTTCAATACATTATTGGCAATTTTGGTGTCTTCTAATCATTTCCAGTGAGGCACCCAGGACATGGATCCAGCTGGATTCTGTGCCAGAAAACTGAAGCCAACTGGGCAGTCAGTGTATAGAGTGCACACAAAGTCAGCTGGAAATGGCTTGGTTCACAGTTTCAAGAGAGTAAATATTTGAGCAGAAACCTTGCAAGAGTTGCTCTATCCAGGCAGAAGCTCGTCATCCTCCCAGAATAGCTCCAGAGGGAAGGAAAGGCCAAGCAAAGGTTGGACGTCTCTGAGAACTCCCGACCTGACCAGGAATGTAGGACAGGAAGCTTCCACAAAAGCCCCACACGTGGTCTTTGCATTCTCTGGCTTAAGTAGGGTAGACATTTCTATGAATAGGAGCTCAGTTTGAGGAGCAGGACATGAATTGTGGAGGGAGGAATGGTAAGACGAAATAGTGATGGATGACTAAATCCCGGCTACATTTAGACCAGAACATTGAATGTACATTCTCTATTCCATGTTTCCCTTCCCAATGTGCACACCCTCCTTCTGTGTATCTGTCGGAAGATAGGGATCCCTGTCTGCAGTGAGAAAATATAGGCTGCTCACAGAGTGATGCGATGGCTGGTCAAACTGAGCAAAGCAAGAACTTAAGAAGGATCATTTGAGATTACCAAGCAGGCAGTTAGGAGGAAAATGAATCAAAGTTACAAGGACAGGAAAAATAGTGTGTGCGTATGCCTGCAAGCATGTCCTGTGTGTGTACCTGTGCGTGCATACTCATGTATGCATGCACATACATGTCAGTGTGCTTCTTTATATGTCCTTGTGTGTACATGTTGGTGCATATTCACACGTGTGCACATGTTGGTGCATATTCACACGTGTGCACATGCGAGTATGCTTGTTTTGTGCACATGCATGTGCATGCATGCATACCTGTGTACATAGGCGTGTTCACATGTGTGCATGTATGCACATGTGTGTGCGTACATGTCTTCATGTGTGAGCATGCATGTCCTTGTGTGTGTGTGCAGGGAGAGTGTCTGCAGAGAATGTAAAGAATCAGAAAGCTGGTGAAAGCTGGAGCTCAGGCTATCCTGGTGACTGGGCTTGGCTCCCGGTCACTAGCTTAGACAATCCACATACAGGCTCAAGAATTTGGCCGGCTGGATTTGGATCCTGTCTCTACTGCTCACTAACTGTGCCTCAGTTTCCCCATCTGTAAAAGAGCAGCCTTTCCTAGGATGAGTGTGGATTAATTGAAGCGATGCACCAGAAGTTCATGGTCCAGGGGCGGGCTCAGAGTCGGCCCTCAGTGGCCCTGGCTGAAATCCATTAGGACTGTGGGGACGGTCACCCTCACCAACTCCCACTTCCTGCCAGCGGATCCCTCTCTTGGGTAATGAGCTGGTGGGGGGATGTTCCCAGGTTGGAGCCACGTTTGACCTGAGATCTGTATTCTCTAGGGCGAGAAAGGCCCACAAGGCCCAGCTGGCCGAGACGGTCTCCAGGGGCCTGTGGGGCTCCCGGGTCCAGCTGGCCCTGTGGGTCCCCCTGGAGAAGACGGAGATAAGGTAAGGCAAATCCAGAGTGACCCATGGCTGGGCCTGGCTGGGCAGACGGGTGTGGGGGAGGGTGGTGAATTTAAAGGACAGGATGCTGGCAGGTAGAGCGGCTCAGCCAGCGGAGTGATGCCACACCCACCCCGCAGTCCTGGCATTAGGGGATGATTTCACAGCAGCCCACTGGTAAATGGTAATACACGCCGTCCCCGGCACGCTCGAGGGACTTAGAAACCACACCCTCCTGTGTCATTTTGAGGTTGCCTGCAACATTTGCTGTGAGTAGCCACAGCAGAGAAAAATGCTCCCCGGTCCCCCCGAATAATTTCAAATTCCGAAACTGCGGAGCCCGGTTTAATGAGGTTTTGCTCAGTATCTATTTTTAAATGTCTCCGCTTGAATTATCCAGGCTCCCGTTCATTAAGAATGTGCTTTATAATTCCAAAACGATGGCTGCAGGAGCTTGCATTTTATCCTTCATTTAACGCAGACAGTGAAATTTCGCTGTGCTGTAACTTTCTATTGATGACCCCTCTCTGGGGACATTTCTGACTTTGTCACCTCTGCATGGATAATGCCTTACATCTCCGGGCGGGAGACAGCCTTGCACCGACAGGAACAACAGAGAGGATTTTAATAACTTCTTCGGCAACATAGTAATTGAGTTGCCTGTTGTTAGGTTGTCATGGTAGTGGCCCAATTTGAAAAACAGAGTAAATATTTTCAATATGACTTTTCCCACATCTTCAAGTCTACTAAAAGCCTGTCGAGCATCAGATCGAGACCTCGTCCCTTTTAGCCCTTGTATTAAAAAGGAAATCAAGCTAATATATGGAAACATTTATTCGTAGGAAAGTTTTAGGGCCACCTGGAAAGGACACTGTTCTTAATCTCCAAGAAAAATTCATTACGGGGAACAGAAAAGGTCCAAACGGTTGTCAAGCTTTCTAACCGAATCCCCCACACCTTCCCCTAGGGAGAGATCGGGGAGCCGGGGCAGAAAGGAAGCAAGGGGGACAAAGGAGAACAGGTAAGTATTGGCACGGGGGCGCGCGGCAGCCCCCAGGTCCCGGGGGGCCTCGTCGCAGGCTGTAGGCCGTGTGCCATGCACGTTCTCTTCCAACGTTGCTGATGACTAGCGGGACATGCTGTGAAAATCTCCCGTGCATGTGTGTTCCCACAACGTGTGTGTGTGCACACGCGTGCATATCTGGGAGTGAGTCTCTCTGTGTTAGAATGAACAGGAAGCATCCACCGGTTTTGCGAAATTAAATAAATGGAGTGTTTCTGTCCTAGAGGGCTTGGGTTCTGCAGACACACCCATTGCCCTCTGAGGTGAGGGAACCAGAATGCTCCGGCAGAGACAGCACCATTGACCAAATGCCTGTTCATTTTTCCCCTTTTGGTTTTTTCATCTGTTCAGAAATCCTAGTGGGTTCTTGCAAAAACCCCATGACTCTGCTACCAGCTCCCTCCCGATGAGTGACATGTCTTCTTATCCTGTACAGCCAGGCCTTTCCCCCAGTATGTTGATTCCTAGGCAAGCAGGATCCGTGCTCCTGGGAGGCCTGCCACAGAGGCTGTGTCCTTCTTCCAGCCGTGGGTTGGGCTACCAGGGCCAAGGGCACTGTACCCTCCTTGCTTGCCTCCTTCCCATGGTCCCATGCGGGAGGTCTCTTGAGGATGGCACAGCAGGGGACATGGTGCTGGGCGCAAGGGCTCCAGAGGAGCTTGTGATCCTGGACCCTCACTGTTGAAGGGGGCCTCACGTGCCCCTGTTGTGGGTGCATGATGGGAGCTGAGATGACACACGGTGGTCTCGAGAGACATTGGGGGCAGCTCTTTGCCATCCAGAAATGGGCTCAGGGTGGAACCAAGATCCTCATCTGCTTCCCAGAGCCTGCAGCAGGCTTGCATCGTGGTGCAAGGAACGANNN | benign | 154,218 |
Variant at chromosome 9, position 134812606, gene COL5A1 (collagen type V alpha 1 chain): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Ehlers-Danlos_syndrome,_classic_type', 'Ehlers-Danlos_syndrome,_classic_type,_1'] | GAGTGTTTCTGTCCTAGAGGGCTTGGGTTCTGCAGACACACCCATTGCCCTCTGAGGTGAGGGAACCAGAATGCTCCGGCAGAGACAGCACCATTGACCAAATGCCTGTTCATTTTTCCCCTTTTGGTTTTTTCATCTGTTCAGAAATCCTAGTGGGTTCTTGCAAAAACCCCATGACTCTGCTACCAGCTCCCTCCCGATGAGTGACATGTCTTCTTATCCTGTACAGCCAGGCCTTTCCCCCAGTATGTTGATTCCTAGGCAAGCAGGATCCGTGCTCCTGGGAGGCCTGCCACAGAGGCTGTGTCCTTCTTCCAGCCGTGGGTTGGGCTACCAGGGCCAAGGGCACTGTACCCTCCTTGCTTGCCTCCTTCCCATGGTCCCATGCGGGAGGTCTCTTGAGGATGGCACAGCAGGGGACATGGTGCTGGGCGCAAGGGCTCCAGAGGAGCTTGTGATCCTGGACCCTCACTGTTGAAGGGGGCCTCACGTGCCCCTGTTGTGGGTGCATGATGGGAGCTGAGATGACACACGGTGGTCTCGAGAGACATTGGGGGCAGCTCTTTGCCATCCAGAAATGGGCTCAGGGTGGAACCAAGATCCTCATCTGCTTCCCAGAGCCTGCAGCAGGCTTGCATCGTGGTGCAAGGAACGACACATTTGGAGACTGAACTGACGACGTTGGATGCATCAGTCCCCGGGCTCAGGATGCGGTCCACCCCTCCCTCAGCCTTATCCACGATCCAAGAAGCTACCTATGTCTCTGTCTTGTTCCCCGCAGGGTCCTCCTGGGCCTACAGGTCCTCAAGGCCCCATCGGACAGCCAGGCCCCTCTGTGAGTATCCATGGTCAATGACCTTCGAAAAGCCCCACGCCCCCCCAGAGCTGCTGGCATTGCCAGCATCCTCACCCATGGCCGGTTATTTCCCTGCAGGGAGCTGACGGCGAGCCGGGGCCTCGGGGCCAGCAGGGCCTTTTCGGGCAGAAAGGTGATGAAGGTCCCAGAGGCTTTCCTGGACCCCCTGGGCCAGTGGGGCTGCAGGTAACTGTGGGGTTCTCACCACACCGGGCTCCTCCGCTTCTGACGCCCCCTGTGTCTTCATTGTGCTCTCTCCTCTTGTCTTTTTAAGAATGGAAAACTAAAGCCAGGCTGCAGGGGGCCTCCTGGGCCTCCTCATTCCAACTGGAAGTGCTGTAGCTTCCCAGAATTCCAGACATGCCCGCATTTACCACACTTCAGCAGTGGCATTTATTTCTGTGCTCATTGTGGAAACTGATGATTCGTGAGAAACATAGTAACAGTGACTTCTAAATGCACCTCCTAGAGATGACAACGATAAACATTTGGGCATGTTTCATGGCCATGCCTTTTAAATGTGTGTATTCTCATGCACAGAGGCGCATATGTAATTGTATTTGGTGTTTGACAATGAATCATGTCATAAGTCAGAGAGAAAGTTTGTTCCCAGCTTTCCCCATTTTCCATCCTCCATTCCCGTTTTATGTTACGAGTGTGTTGAATGCCATTACACATGACTTTCTATTTATTTGGAAAACATGATTTTTAGTCACTGCACAGTAAGCCAGCATCTGGTGGTGACATAATTTACCCAGGCGTCCCCTGCTGGCTCCTTAGGCTTTATTGTTTTATGGGTTCCTGCCATAATCACCTTTGTCGTAAATCTTTGCAATCTTCTCTGCTTATTTCCTCGGGCCGATTCTGAGACTGGGAACCCCGGGACGTCCTCGTGGGTAGCTATGCACAGAGAAGCACCTTCCCGGGGCTTCGGGGGCTCAGTGGTGCTGTGTGGGTGGAGGTCGTGAAAGCTGTGTGTGTGTTTGACATACACATGACAGAACAGCGCTTAACTGGGAAGTTTCCTGTTCTCAGGGTTTGCCAGGACCTCCAGGCGAGAAGGGTGAGACAGGAGACGTGGGCCAGATGGTAAGTGTGCCTGAGACTCCAAGGCCTTGCCGTACTAGCGGCTCATGTTTTGGGGAAACATTTGCGTTTCCTCTGGGCTCAGTGGTCTCTCCCTTTTCCTAGGGCCCCCCGGGTCCCCCTGGCCCCCGAGGACCCTCCGGAGCTCCAGGTGCTGATGGCCCACAAGGTCCCCCAGGTGGAATAGGAAACCCTGGTGCAGTGGGAGAGAAGGTGAGGCTCGTGCCTGCTCTGGTGGCAGATTTGCGGTTGTTTGAGGAGTGTGTGTGTGTGTCTGTGTGTGTGTGTCTGTGTGTATGTGTATGTGCGCATGCACACGCTTGTGGGGGTGCATACACGTGTGTGTACCTCTCTGTGTGTACACAGAGATGAGAAGTACTCATTTCTGTGGGCATGGCTGGTTTATTCCTATGAAGGGCATTTTGAAATGTAGGCAGATGCTTGTGAAATGGAACTGGGAACTCTGACTGTCCATTTGTGACAGCCTTTTGCAGAATTTCCAGACGATGCCCCACCAGCAAAGCCCCTGCCTCCTCCAAGACTCAGCTCTGGTGGAGATCATCTATTCCTTAAATAACTGGTGTTTCTAAGCTTGCAGTTTCCATTTCAGCCGAATTATTTTCTCAAATGGGTCCTCTCCATTTGATCTGATTGGTTTTGGAGCCCAGACTCCATGAGCGTCATGGACCCAGTCGTGTGTGTGTGTGTGCCTGTGTGTGTGAGCTCCTGTGTGCACATCGGTGCATGTGTGTGTGCCTGCATGCTGGGTGGGACAGCATTTGCCTGACTGCAAAAGCACCTCTCCCAGTTCCCCTGGACAAGAGGGAAGACAGAGTGTACATCCATGCACTTGAGCCCCCTGTGCACCGTTTCCAGAGCTTTCTTTCTGACATCAATCAGGCCATTAAATTGGAAGACGCCTTCCACCGCTGCTCATTTTTTATGATACAGAAATTAAAGAGGAATATGCCCTGCTGAGACCACAGGGTGATGGTGTGCGGCTTCTGCTCAGAGAGGCGGTGTTTTCCTTGGTGTCCCCGCTGTAGGGCGCATGTTTCTGTTCACCTGCTGCCACTGTGCATGCCCTCTTCCCTGCGTCCCTCTGGCCTGTGTCCCTGAGGACTGCGTGCCTGTCCTCCTGCCTCGGCCCTGGCCATCCCCCACCTGGAGTGCCATCCTAGCCACTTACCAGCTTCTCATAGTTGCCCTCCACAACCCTTGGAGCAGCGCTCCGGGAAAGCCTTCACAGACAGTGTTGCTTGCAGTCTGGACACTCTGCCCTGTATCCATCACGTGCCTGCCACATTCCTCACGCACCTCCAATTCTGGGAGTGTGTGGGGACAGCACTCCCCAGAAACCCCTGGGTCCTGGGTGCCCAGGGGCAGGCAGACAGCAGGCAGGATTTGGCAAATGCTTGAAACCGTAGCACTGCGTTCATCGCGGTGCTCACCGCTGCCATAACCACATGCACTGTCTCCCTAGGGCGAGCCTGGCGAAGCAGGTGAGCCTGGCCTTCCGGGAGAAGGCGGCCCCCCGGTGAGTGAGCGGGCGCTGCGGGAGGGGTGGGATATGGCCGAGCGGGTGTGTGGACGGGGTGCTGGGTTGGAGGCTCTGGCTCTGCCTTAGCTTTTCCATCCACGAAATGGGAGTTGTAACCCCTCTTGTGCCCATTTCATGGAATGACCGTGAACAAGGTGTGTGATGTGGGAGTCAGCATGTACACGCAGACCTAGCAATAGCTACCTGTGCCCAGTGGCCTGCAGTAACTCTACCCTCTGTAGTGTTTGCTCCTGGCCCCTTCGCGGGGCAGCTGCTGTCACCTCGTCCCCCCGGACCTTGAGGGCCAGACTAGGAATATCCAGGCCTTCTCAGGCCAGATGAATGTTCACTATGAGGCCAGCCCAAAGGTGGCTTTCAGGCCCAGGACCAGCTGGGTGGACTCGGGTCTTCTGGTTCTAGCTGCTCCCTCCCCATGAGATCCGTGGAGTCTGTGGGCACCCCTTGTGGTCTTCACTGACTGATGTCTGGTCCAGGAGTCAGTCCCTCCCACCCAGAGCTGAATCTCAGGCTTTGAGGGCCCCAGAAAGTGAAGGCTCCTCAGGTCCCCCTCAGGGTGCACACAGGAGCTGATTCTGCCCAGGGCTTGGGGAGCG | GAGTGTTTCTGTCCTAGAGGGCTTGGGTTCTGCAGACACACCCATTGCCCTCTGAGGTGAGGGAACCAGAATGCTCCGGCAGAGACAGCACCATTGACCAAATGCCTGTTCATTTTTCCCCTTTTGGTTTTTTCATCTGTTCAGAAATCCTAGTGGGTTCTTGCAAAAACCCCATGACTCTGCTACCAGCTCCCTCCCGATGAGTGACATGTCTTCTTATCCTGTACAGCCAGGCCTTTCCCCCAGTATGTTGATTCCTAGGCAAGCAGGATCCGTGCTCCTGGGAGGCCTGCCACAGAGGCTGTGTCCTTCTTCCAGCCGTGGGTTGGGCTACCAGGGCCAAGGGCACTGTACCCTCCTTGCTTGCCTCCTTCCCATGGTCCCATGCGGGAGGTCTCTTGAGGATGGCACAGCAGGGGACATGGTGCTGGGCGCAAGGGCTCCAGAGGAGCTTGTGATCCTGGACCCTCACTGTTGAAGGGGGCCTCACGTGCCCCTGTTGTGGGTGCATGATGGGAGCTGAGATGACACACGGTGGTCTCGAGAGACATTGGGGGCAGCTCTTTGCCATCCAGAAATGGGCTCAGGGTGGAACCAAGATCCTCATCTGCTTCCCAGAGCCTGCAGCAGGCTTGCATCGTGGTGCAAGGAACGACACATTTGGAGACTGAACTGACGACGTTGGATGCATCAGTCCCCGGGCTCAGGATGCGGTCCACCCCTCCCTCAGCCTTATCCACGATCCAAGAAGCTACCTATGTCTCTGTCTTGTTCCCCGCAGGGTCCTCCTGGGCCTACAGGTCCTCAAGGCCCCATCGGACAGCCAGGCCCCTCTGTGAGTATCCATGGTCAATGACCTTCGAAAAGCCCCACGCCCCCCCAGAGCTGCTGGCATTGCCAGCATCCTCACCCATGGCCGGTTATTTCCCTGCAGGGAGCTGACGGCGAGCCGGGGCCTCGGGGCCAGCAGGGCCTTTTCGGGCAGAAAGGTGATGAAGGTCCCAGAGGCTTTCCTGGACCCCCTGGGCCAGTGGGGCTGCAGGTAACTGTGGGGTTCTCACCACACCGGGCTCCTCCGCTTCTGACGCCCCCTGTGTCTTCATTGTGCTCTCTCCTCTTGTCTTTTTAAGAATGGAAAACTAAAGCCAGGCTGCAGGGGGCCTCCTGGGCCTCCTCATTCCAACTGGAAGTGCTGTAGCTTCCCAGAATTCCAGACATGCCCGCATTTACCACACTTCAGCAGTGGCATTTATTTCTGTGCTCATTGTGGAAACTGATGATTCGTGAGAAACATAGTAACAGTGACTTCTAAATGCACCTCCTAGAGATGACAACGATAAACATTTGGGCATGTTTCATGGCCATGCCTTTTAAATGTGTGTATTCTCATGCACAGAGGCGCATATGTAATTGTATTTGGTGTTTGACAATGAATCATGTCATAAGTCAGAGAGAAAGTTTGTTCCCAGCTTTCCCCATTTTCCATCCTCCATTCCCGTTTTATGTTACGAGTGTGTTGAATGCCATTACACATGACTTTCTATTTATTTGGAAAACATGATTTTTAGTCACTGCACAGTAAGCCAGCATCTGGTGGTGACATAATTTACCCAGGCGTCCCCTGCTGGCTCCTTAGGCTTTATTGTTTTATGGGTTCCTGCCATAATCACCTTTGTCGTAAATCTTTGCAATCTTCTCTGCTTATTTCCTCGGGCCGATTCTGAGACTGGGAACCCCGGGACGTCCTCGTGGGTAGCTATGCACAGAGAAGCACCTTCCCGGGGCTTCGGGGGCTCAGTGGTGCTGTGTGGGTGGAGGTCGTGAAAGCTGTGTGTGTGTTTGACATACACATGACAGAACAGCGCTTAACTGGGAAGTTTCCTGTTCTCAGGGTTTGCCAGGACCTCCAGGCGAGAAGGGTGAGACAGGAGACGTGGGCCAGATGGTAAGTGTGCCTGAGACTCCAAGGCCTTGCCGTACTAGCGGCTCATGTTTTGGGGAAACATTTGCGTTTCCTCTGGGCTCAGTGGTCTCTCCCTTTTCCTAGGGCCCCCCCGGGTCCCCCTGGCCCCCGAGGACCCTCCGGAGCTCCAGGTGCTGATGGCCCACAAGGTCCCCCAGGTGGAATAGGAAACCCTGGTGCAGTGGGAGAGAAGGTGAGGCTCGTGCCTGCTCTGGTGGCAGATTTGCGGTTGTTTGAGGAGTGTGTGTGTGTGTCTGTGTGTGTGTGTCTGTGTGTATGTGTATGTGCGCATGCACACGCTTGTGGGGGTGCATACACGTGTGTGTACCTCTCTGTGTGTACACAGAGATGAGAAGTACTCATTTCTGTGGGCATGGCTGGTTTATTCCTATGAAGGGCATTTTGAAATGTAGGCAGATGCTTGTGAAATGGAACTGGGAACTCTGACTGTCCATTTGTGACAGCCTTTTGCAGAATTTCCAGACGATGCCCCACCAGCAAAGCCCCTGCCTCCTCCAAGACTCAGCTCTGGTGGAGATCATCTATTCCTTAAATAACTGGTGTTTCTAAGCTTGCAGTTTCCATTTCAGCCGAATTATTTTCTCAAATGGGTCCTCTCCATTTGATCTGATTGGTTTTGGAGCCCAGACTCCATGAGCGTCATGGACCCAGTCGTGTGTGTGTGTGTGCCTGTGTGTGTGAGCTCCTGTGTGCACATCGGTGCATGTGTGTGTGCCTGCATGCTGGGTGGGACAGCATTTGCCTGACTGCAAAAGCACCTCTCCCAGTTCCCCTGGACAAGAGGGAAGACAGAGTGTACATCCATGCACTTGAGCCCCCTGTGCACCGTTTCCAGAGCTTTCTTTCTGACATCAATCAGGCCATTAAATTGGAAGACGCCTTCCACCGCTGCTCATTTTTTATGATACAGAAATTAAAGAGGAATATGCCCTGCTGAGACCACAGGGTGATGGTGTGCGGCTTCTGCTCAGAGAGGCGGTGTTTTCCTTGGTGTCCCCGCTGTAGGGCGCATGTTTCTGTTCACCTGCTGCCACTGTGCATGCCCTCTTCCCTGCGTCCCTCTGGCCTGTGTCCCTGAGGACTGCGTGCCTGTCCTCCTGCCTCGGCCCTGGCCATCCCCCACCTGGAGTGCCATCCTAGCCACTTACCAGCTTCTCATAGTTGCCCTCCACAACCCTTGGAGCAGCGCTCCGGGAAAGCCTTCACAGACAGTGTTGCTTGCAGTCTGGACACTCTGCCCTGTATCCATCACGTGCCTGCCACATTCCTCACGCACCTCCAATTCTGGGAGTGTGTGGGGACAGCACTCCCCAGAAACCCCTGGGTCCTGGGTGCCCAGGGGCAGGCAGACAGCAGGCAGGATTTGGCAAATGCTTGAAACCGTAGCACTGCGTTCATCGCGGTGCTCACCGCTGCCATAACCACATGCACTGTCTCCCTAGGGCGAGCCTGGCGAAGCAGGTGAGCCTGGCCTTCCGGGAGAAGGCGGCCCCCCGGTGAGTGAGCGGGCGCTGCGGGAGGGGTGGGATATGGCCGAGCGGGTGTGTGGACGGGGTGCTGGGTTGGAGGCTCTGGCTCTGCCTTAGCTTTTCCATCCACGAAATGGGAGTTGTAACCCCTCTTGTGCCCATTTCATGGAATGACCGTGAACAAGGTGTGTGATGTGGGAGTCAGCATGTACACGCAGACCTAGCAATAGCTACCTGTGCCCAGTGGCCTGCAGTAACTCTACCCTCTGTAGTGTTTGCTCCTGGCCCCTTCGCGGGGCAGCTGCTGTCACCTCGTCCCCCCGGACCTTGAGGGCCAGACTAGGAATATCCAGGCCTTCTCAGGCCAGATGAATGTTCACTATGAGGCCAGCCCAAAGGTGGCTTTCAGGCCCAGGACCAGCTGGGTGGACTCGGGTCTTCTGGTTCTAGCTGCTCCCTCCCCATGAGATCCGTGGAGTCTGTGGGCACCCCTTGTGGTCTTCACTGACTGATGTCTGGTCCAGGAGTCAGTCCCTCCCACCCAGAGCTGAATCTCAGGCTTTGAGGGCCCCAGAAAGTGAAGGCTCCTCAGGTCCCCCTCAGGGTGCACACAGGAGCTGATTCTGCCCAGGGCTTGGGGAGC | pathogenic | 154,266 |
Is the chromosome 9, position 134815604 variant in COL5A1 (collagen type V alpha 1 chain) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Ehlers-Danlos_syndrome', 'Ehlers-Danlos_syndrome,_classic_type,_1', 'Familial_thoracic_aortic_aneurysm_and_aortic_dissection'] | TCTGTTCACCTGCTGCCACTGTGCATGCCCTCTTCCCTGCGTCCCTCTGGCCTGTGTCCCTGAGGACTGCGTGCCTGTCCTCCTGCCTCGGCCCTGGCCATCCCCCACCTGGAGTGCCATCCTAGCCACTTACCAGCTTCTCATAGTTGCCCTCCACAACCCTTGGAGCAGCGCTCCGGGAAAGCCTTCACAGACAGTGTTGCTTGCAGTCTGGACACTCTGCCCTGTATCCATCACGTGCCTGCCACATTCCTCACGCACCTCCAATTCTGGGAGTGTGTGGGGACAGCACTCCCCAGAAACCCCTGGGTCCTGGGTGCCCAGGGGCAGGCAGACAGCAGGCAGGATTTGGCAAATGCTTGAAACCGTAGCACTGCGTTCATCGCGGTGCTCACCGCTGCCATAACCACATGCACTGTCTCCCTAGGGCGAGCCTGGCGAAGCAGGTGAGCCTGGCCTTCCGGGAGAAGGCGGCCCCCCGGTGAGTGAGCGGGCGCTGCGGGAGGGGTGGGATATGGCCGAGCGGGTGTGTGGACGGGGTGCTGGGTTGGAGGCTCTGGCTCTGCCTTAGCTTTTCCATCCACGAAATGGGAGTTGTAACCCCTCTTGTGCCCATTTCATGGAATGACCGTGAACAAGGTGTGTGATGTGGGAGTCAGCATGTACACGCAGACCTAGCAATAGCTACCTGTGCCCAGTGGCCTGCAGTAACTCTACCCTCTGTAGTGTTTGCTCCTGGCCCCTTCGCGGGGCAGCTGCTGTCACCTCGTCCCCCCGGACCTTGAGGGCCAGACTAGGAATATCCAGGCCTTCTCAGGCCAGATGAATGTTCACTATGAGGCCAGCCCAAAGGTGGCTTTCAGGCCCAGGACCAGCTGGGTGGACTCGGGTCTTCTGGTTCTAGCTGCTCCCTCCCCATGAGATCCGTGGAGTCTGTGGGCACCCCTTGTGGTCTTCACTGACTGATGTCTGGTCCAGGAGTCAGTCCCTCCCACCCAGAGCTGAATCTCAGGCTTTGAGGGCCCCAGAAAGTGAAGGCTCCTCAGGTCCCCCTCAGGGTGCACACAGGAGCTGATTCTGCCCAGGGCTTGGGGAGCGACCTGGCAGCCAGCCCCCTGCAGGGCTCAGCAGATACTTGGAAAGGCTGGTCTGAATGGGGTGAGAAAACCGGGGAGGCCCACCTTGCTCTGGGCGGCGACGTGGTTGGCTCTGAGGACTTGACACTGGCCTCTTTCCTCCAGGGACCCAAAGGAGAAAGGGGAGAGAAGGGCGAGTCAGGCCCTTCAGGTGCTGCCGGACCCCCTGGACCCAAAGGCCCTCCCGGAGATGATGGTCCCAAAGGCAGCCCTGTGAGTATTCCAGACACACCTCAGGGGCCCTGCAGCAGGGGCGGGGCTCTGCACTGGGATCATTCTGACTCACTGGCGGTGCACTCTGCTCTGAGAACAGCTTCAAGACCATTCCATGTGTTGGGTAAATTTTCTAGACACTAGAGGTTTTCATACCAGCTACTGAACCAAAATAGTGGAGATGAGACAGGGCGTGGACTGGAGGAGAAAGCCCTGAGTGATTCTTCTCTGTGGGCCAGGCGGCCGGCTGAGATGCACGAGTGACAGCCAGGCTTTGGGAAGTTGCCCCCGCCCTTGGCCGGCCCTGATTTTGCATCAGGAGGGGCTTCGGAGAGGCACATTCCGGAAGTCTGAAGGTCCAGGTTCTAGTTGCAGCCTGGAGCTCCCAGGAATAGACCTGTGGGCGGAACGCCTGCCCCTTGCTTGGCTCTGGAAAGCAAGAGACCAGCTGACCCCTGCCATGCCCACTGGCCAGGCTTGCTGGCTCTGGGACATGCTGCACGTGGAAGGGTCTCTGGGCCATAAAGTGCACTGGGTTGTCGGAACTGCTGGAAAGTCTTAGGAGCTGGACGGTGGCAGGTGGCCATCTTGAGGTGGTGACATGATTGGCCGTGTGTGGTCTCAGTCAGGTTGCTGATGGCCTTGGCTGCTTCCTTCTTTCTTCCTTTCAGGGCCCAGTGGGTTTTCCTGGAGATCCTGGCCCCCCCGGAGAGCCTGGCCCCGCGGTAGGTGCTCAAGAGGGCAAAGCCACCGGATCCCCCACAGTGCTGGCCTGCCTCTGCCAGCCCCATTTCCCCTCTTTCTGGTGGTTCTTTGTGATGAACTCCCACTGGGGCAGGCAATGTCCCAAAAGGCACTCGTGTTCCGGTGATCAGAGCAAGAAAACGCCTTTGACCCCACTGACCATGCTCTGTGCTGGCACCAGAATGGATTTGGGTTTTGGGAAGGGGCTGGAGATGCATTGGGAACTGGTGCATGAACTCAGGGTGCCATCCGGGGTTCAGCAAGGAGCTCGCTTTTGCCTCCATAGGGTCAAGATGGTCCCCCTGGTGACAAAGGAGATGATGGTGAACCCGGGCAGACGGTGAGTCCACAATCTGGGCTGGCTTCCTGGTGGAGGTGTCAGTGTATTCTTGGGACCTTGCAGCTTGCTTGACTCATTTCTGGGAAAAACTCCAACCTAGTTGATATTGATTCCTTTATGATATCGATTCCCTTATGATATTGATTCCCTTATGATGTTGATTCCCTTATGATATTGATTCTGGACAGTGACAGAGCTCATGAACTCCCTCTGAGATGCACGTGCTGTCTCAGCAGCAGGTTTGCAGGCAGCCCCAGGGCTTCCACGACCCACCATGGGCTCGCCCGGGAACGTCAGATCTTACCCACAGCTCTGCCTAGCAGGGCCAGTGCCTCTCCTCACCAGGCCCTTCCTGCCTTACCTTGACCGAGATCACACTGGACGTTGCATCTGACGCTTGGCGTTGAGTGTTTTAAACACCGCTTCAAGCCCAGAACGTCTTTCTGGGACGGATCGACCCCCATGGGCCCTGGGCAGGACTGGGCCTGGAGGAGGCCCCTGAGGCCTTGCAGATGCCCTTGCCCCACCTTGCACCCAGCCTGGCCAAGCGCGGGGGACTGCGGACCTGAGGGCAAAGGCCATGTCACTGAGTTGAGAGGAGCGTCCACTCAGAGAAGGGGTTAGGGATCTAGCCTCGGGCTGGATTTCCCTGACAGACACCCCCAGTCCACCACTTCCCGGCCTGTGTCCTGGGACGATTCTTGTCCCCCCTTCTGTGAAAGGGGATGCCAGTGCCTCGTCCCTGCCCAGGTTGTGGTGGGGACCGAACCGTCATTGTGTATCAAGAGTCAGCACTGTGAGTGGGGAAGTTCTCTTCCAAAATGCAGAAAACCCGCAGGATGGGAGTTGGGGTTCCTTACGCTGTCACAGCCCGGGTGCGACACTGTCTTAGGACCCTCTGTGCTAGCCCCAAAAGAAGAGAGAGGCGGCCGCAGGGCTGGCCGAGGAGTAAATAGACTGAAATCGCCATGTGTTTTGCCTCAATTGAGTCTAACGGGCCCCAATTCCTCACACTCTGTTCTTTCTCCCAATACCAGGGATCCCCCGGCCCTACTGGTGAACCAGGTCCATCGGGGCCTCCAGGAAAAAGGGTAAATAATCCTGCAGGCACATCCTTGCTGTCAAATCCCTGCATGAAACACCCCCGCCCCTCCCCGTCACCTTTGCTTGGGCCCTGGGTGCTCTAAGCTGCACTGATGAGGAAGGGCTCGGGTGTGGCATGTTCTCCACTTAGCCTCGGCCACATCATCACCTAATCACAGGCTTGCCAGGTCGACGCAGCTGCTCCTTTTAGGACAGGCCGCCTGCTGACACGGTCAGTGATATCCATGGTGGGAGAAAGACACCCGCAAAGCTGCAAAGGTCCTTTTCCCCTGGCTCAGGTTTTACTGAAAAGCCAGAACAAATGAGAAGGCATCTTTTGCAGATTGAATGGTCCAGCCACTTGCTGGTGGGGCAGTAAACAGCTGCCTGGTGCACCCAGGACGGAGGCCACACACAACTCGCGGCGTGCACTGCGCCTCCCCACGTGGCCTGAGAGGCCTTTACCTGGGACTGGAGTCCATAGGACTCATGCTGAGGACCCGTGTCACTGCGGGTGGCCCGGGAGCAGCCTCCATGACCCTGCACCCCTGCCCTGCAGCCCGGCACACCCTGAGCACCT | TCTGTTCACCTGCTGCCACTGTGCATGCCCTCTTCCCTGCGTCCCTCTGGCCTGTGTCCCTGAGGACTGCGTGCCTGTCCTCCTGCCTCGGCCCTGGCCATCCCCCACCTGGAGTGCCATCCTAGCCACTTACCAGCTTCTCATAGTTGCCCTCCACAACCCTTGGAGCAGCGCTCCGGGAAAGCCTTCACAGACAGTGTTGCTTGCAGTCTGGACACTCTGCCCTGTATCCATCACGTGCCTGCCACATTCCTCACGCACCTCCAATTCTGGGAGTGTGTGGGGACAGCACTCCCCAGAAACCCCTGGGTCCTGGGTGCCCAGGGGCAGGCAGACAGCAGGCAGGATTTGGCAAATGCTTGAAACCGTAGCACTGCGTTCATCGCGGTGCTCACCGCTGCCATAACCACATGCACTGTCTCCCTAGGGCGAGCCTGGCGAAGCAGGTGAGCCTGGCCTTCCGGGAGAAGGCGGCCCCCCGGTGAGTGAGCGGGCGCTGCGGGAGGGGTGGGATATGGCCGAGCGGGTGTGTGGACGGGGTGCTGGGTTGGAGGCTCTGGCTCTGCCTTAGCTTTTCCATCCACGAAATGGGAGTTGTAACCCCTCTTGTGCCCATTTCATGGAATGACCGTGAACAAGGTGTGTGATGTGGGAGTCAGCATGTACACGCAGACCTAGCAATAGCTACCTGTGCCCAGTGGCCTGCAGTAACTCTACCCTCTGTAGTGTTTGCTCCTGGCCCCTTCGCGGGGCAGCTGCTGTCACCTCGTCCCCCCGGACCTTGAGGGCCAGACTAGGAATATCCAGGCCTTCTCAGGCCAGATGAATGTTCACTATGAGGCCAGCCCAAAGGTGGCTTTCAGGCCCAGGACCAGCTGGGTGGACTCGGGTCTTCTGGTTCTAGCTGCTCCCTCCCCATGAGATCCGTGGAGTCTGTGGGCACCCCTTGTGGTCTTCACTGACTGATGTCTGGTCCAGGAGTCAGTCCCTCCCACCCAGAGCTGAATCTCAGGCTTTGAGGGCCCCAGAAAGTGAAGGCTCCTCAGGTCCCCCTCAGGGTGCACACAGGAGCTGATTCTGCCCAGGGCTTGGGGAGCGACCTGGCAGCCAGCCCCCTGCAGGGCTCAGCAGATACTTGGAAAGGCTGGTCTGAATGGGGTGAGAAAACCGGGGAGGCCCACCTTGCTCTGGGCGGCGACGTGGTTGGCTCTGAGGACTTGACACTGGCCTCTTTCCTCCAGGGACCCAAAGGAGAAAGGGGAGAGAAGGGCGAGTCAGGCCCTTCAGGTGCTGCCGGACCCCCTGGACCCAAAGGCCCTCCCGGAGATGATGGTCCCAAAGGCAGCCCTGTGAGTATTCCAGACACACCTCAGGGGCCCTGCAGCAGGGGCGGGGCTCTGCACTGGGATCATTCTGACTCACTGGCGGTGCACTCTGCTCTGAGAACAGCTTCAAGACCATTCCATGTGTTGGGTAAATTTTCTAGACACTAGAGGTTTTCATACCAGCTACTGAACCAAAATAGTGGAGATGAGACAGGGCGTGGACTGGAGGAGAAAGCCCTGAGTGATTCTTCTCTGTGGGCCAGGCGGCCGGCTGAGATGCACGAGTGACAGCCAGGCTTTGGGAAGTTGCCCCCGCCCTTGGCCGGCCCTGATTTTGCATCAGGAGGGGCTTCGGAGAGGCACATTCCGGAAGTCTGAAGGTCCAGGTTCTAGTTGCAGCCTGGAGCTCCCAGGAATAGACCTGTGGGCGGAACGCCTGCCCCTTGCTTGGCTCTGGAAAGCAAGAGACCAGCTGACCCCTGCCATGCCCACTGGCCAGGCTTGCTGGCTCTGGGACATGCTGCACGTGGAAGGGTCTCTGGGCCATAAAGTGCACTGGGTTGTCGGAACTGCTGGAAAGTCTTAGGAGCTGGACGGTGGCAGGTGGCCATCTTGAGGTGGTGACATGATTGGCCGTGTGTGGTCTCAGTCAGGTTGCTGATGGCCTTGGCTGCTTCCTTCTTTCTTCCTTTCAGGGCCCAGTGGGTTTTCCTGGAGATCCTGGCCCCCCCCGGAGAGCCTGGCCCCGCGGTAGGTGCTCAAGAGGGCAAAGCCACCGGATCCCCCACAGTGCTGGCCTGCCTCTGCCAGCCCCATTTCCCCTCTTTCTGGTGGTTCTTTGTGATGAACTCCCACTGGGGCAGGCAATGTCCCAAAAGGCACTCGTGTTCCGGTGATCAGAGCAAGAAAACGCCTTTGACCCCACTGACCATGCTCTGTGCTGGCACCAGAATGGATTTGGGTTTTGGGAAGGGGCTGGAGATGCATTGGGAACTGGTGCATGAACTCAGGGTGCCATCCGGGGTTCAGCAAGGAGCTCGCTTTTGCCTCCATAGGGTCAAGATGGTCCCCCTGGTGACAAAGGAGATGATGGTGAACCCGGGCAGACGGTGAGTCCACAATCTGGGCTGGCTTCCTGGTGGAGGTGTCAGTGTATTCTTGGGACCTTGCAGCTTGCTTGACTCATTTCTGGGAAAAACTCCAACCTAGTTGATATTGATTCCTTTATGATATCGATTCCCTTATGATATTGATTCCCTTATGATGTTGATTCCCTTATGATATTGATTCTGGACAGTGACAGAGCTCATGAACTCCCTCTGAGATGCACGTGCTGTCTCAGCAGCAGGTTTGCAGGCAGCCCCAGGGCTTCCACGACCCACCATGGGCTCGCCCGGGAACGTCAGATCTTACCCACAGCTCTGCCTAGCAGGGCCAGTGCCTCTCCTCACCAGGCCCTTCCTGCCTTACCTTGACCGAGATCACACTGGACGTTGCATCTGACGCTTGGCGTTGAGTGTTTTAAACACCGCTTCAAGCCCAGAACGTCTTTCTGGGACGGATCGACCCCCATGGGCCCTGGGCAGGACTGGGCCTGGAGGAGGCCCCTGAGGCCTTGCAGATGCCCTTGCCCCACCTTGCACCCAGCCTGGCCAAGCGCGGGGGACTGCGGACCTGAGGGCAAAGGCCATGTCACTGAGTTGAGAGGAGCGTCCACTCAGAGAAGGGGTTAGGGATCTAGCCTCGGGCTGGATTTCCCTGACAGACACCCCCAGTCCACCACTTCCCGGCCTGTGTCCTGGGACGATTCTTGTCCCCCCTTCTGTGAAAGGGGATGCCAGTGCCTCGTCCCTGCCCAGGTTGTGGTGGGGACCGAACCGTCATTGTGTATCAAGAGTCAGCACTGTGAGTGGGGAAGTTCTCTTCCAAAATGCAGAAAACCCGCAGGATGGGAGTTGGGGTTCCTTACGCTGTCACAGCCCGGGTGCGACACTGTCTTAGGACCCTCTGTGCTAGCCCCAAAAGAAGAGAGAGGCGGCCGCAGGGCTGGCCGAGGAGTAAATAGACTGAAATCGCCATGTGTTTTGCCTCAATTGAGTCTAACGGGCCCCAATTCCTCACACTCTGTTCTTTCTCCCAATACCAGGGATCCCCCGGCCCTACTGGTGAACCAGGTCCATCGGGGCCTCCAGGAAAAAGGGTAAATAATCCTGCAGGCACATCCTTGCTGTCAAATCCCTGCATGAAACACCCCCGCCCCTCCCCGTCACCTTTGCTTGGGCCCTGGGTGCTCTAAGCTGCACTGATGAGGAAGGGCTCGGGTGTGGCATGTTCTCCACTTAGCCTCGGCCACATCATCACCTAATCACAGGCTTGCCAGGTCGACGCAGCTGCTCCTTTTAGGACAGGCCGCCTGCTGACACGGTCAGTGATATCCATGGTGGGAGAAAGACACCCGCAAAGCTGCAAAGGTCCTTTTCCCCTGGCTCAGGTTTTACTGAAAAGCCAGAACAAATGAGAAGGCATCTTTTGCAGATTGAATGGTCCAGCCACTTGCTGGTGGGGCAGTAAACAGCTGCCTGGTGCACCCAGGACGGAGGCCACACACAACTCGCGGCGTGCACTGCGCCTCCCCACGTGGCCTGAGAGGCCTTTACCTGGGACTGGAGTCCATAGGACTCATGCTGAGGACCCGTGTCACTGCGGGTGGCCCGGGAGCAGCCTCCATGACCCTGCACCCCTGCCCTGCAGCCCGGCACACCCTGAGCACC | pathogenic | 154,302 |
Chromosome 9, position 134817028, gene COL5A1 (collagen type V alpha 1 chain): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Ehlers-Danlos_syndrome,_classic_type,_1'] | GCGGTGCACTCTGCTCTGAGAACAGCTTCAAGACCATTCCATGTGTTGGGTAAATTTTCTAGACACTAGAGGTTTTCATACCAGCTACTGAACCAAAATAGTGGAGATGAGACAGGGCGTGGACTGGAGGAGAAAGCCCTGAGTGATTCTTCTCTGTGGGCCAGGCGGCCGGCTGAGATGCACGAGTGACAGCCAGGCTTTGGGAAGTTGCCCCCGCCCTTGGCCGGCCCTGATTTTGCATCAGGAGGGGCTTCGGAGAGGCACATTCCGGAAGTCTGAAGGTCCAGGTTCTAGTTGCAGCCTGGAGCTCCCAGGAATAGACCTGTGGGCGGAACGCCTGCCCCTTGCTTGGCTCTGGAAAGCAAGAGACCAGCTGACCCCTGCCATGCCCACTGGCCAGGCTTGCTGGCTCTGGGACATGCTGCACGTGGAAGGGTCTCTGGGCCATAAAGTGCACTGGGTTGTCGGAACTGCTGGAAAGTCTTAGGAGCTGGACGGTGGCAGGTGGCCATCTTGAGGTGGTGACATGATTGGCCGTGTGTGGTCTCAGTCAGGTTGCTGATGGCCTTGGCTGCTTCCTTCTTTCTTCCTTTCAGGGCCCAGTGGGTTTTCCTGGAGATCCTGGCCCCCCCGGAGAGCCTGGCCCCGCGGTAGGTGCTCAAGAGGGCAAAGCCACCGGATCCCCCACAGTGCTGGCCTGCCTCTGCCAGCCCCATTTCCCCTCTTTCTGGTGGTTCTTTGTGATGAACTCCCACTGGGGCAGGCAATGTCCCAAAAGGCACTCGTGTTCCGGTGATCAGAGCAAGAAAACGCCTTTGACCCCACTGACCATGCTCTGTGCTGGCACCAGAATGGATTTGGGTTTTGGGAAGGGGCTGGAGATGCATTGGGAACTGGTGCATGAACTCAGGGTGCCATCCGGGGTTCAGCAAGGAGCTCGCTTTTGCCTCCATAGGGTCAAGATGGTCCCCCTGGTGACAAAGGAGATGATGGTGAACCCGGGCAGACGGTGAGTCCACAATCTGGGCTGGCTTCCTGGTGGAGGTGTCAGTGTATTCTTGGGACCTTGCAGCTTGCTTGACTCATTTCTGGGAAAAACTCCAACCTAGTTGATATTGATTCCTTTATGATATCGATTCCCTTATGATATTGATTCCCTTATGATGTTGATTCCCTTATGATATTGATTCTGGACAGTGACAGAGCTCATGAACTCCCTCTGAGATGCACGTGCTGTCTCAGCAGCAGGTTTGCAGGCAGCCCCAGGGCTTCCACGACCCACCATGGGCTCGCCCGGGAACGTCAGATCTTACCCACAGCTCTGCCTAGCAGGGCCAGTGCCTCTCCTCACCAGGCCCTTCCTGCCTTACCTTGACCGAGATCACACTGGACGTTGCATCTGACGCTTGGCGTTGAGTGTTTTAAACACCGCTTCAAGCCCAGAACGTCTTTCTGGGACGGATCGACCCCCATGGGCCCTGGGCAGGACTGGGCCTGGAGGAGGCCCCTGAGGCCTTGCAGATGCCCTTGCCCCACCTTGCACCCAGCCTGGCCAAGCGCGGGGGACTGCGGACCTGAGGGCAAAGGCCATGTCACTGAGTTGAGAGGAGCGTCCACTCAGAGAAGGGGTTAGGGATCTAGCCTCGGGCTGGATTTCCCTGACAGACACCCCCAGTCCACCACTTCCCGGCCTGTGTCCTGGGACGATTCTTGTCCCCCCTTCTGTGAAAGGGGATGCCAGTGCCTCGTCCCTGCCCAGGTTGTGGTGGGGACCGAACCGTCATTGTGTATCAAGAGTCAGCACTGTGAGTGGGGAAGTTCTCTTCCAAAATGCAGAAAACCCGCAGGATGGGAGTTGGGGTTCCTTACGCTGTCACAGCCCGGGTGCGACACTGTCTTAGGACCCTCTGTGCTAGCCCCAAAAGAAGAGAGAGGCGGCCGCAGGGCTGGCCGAGGAGTAAATAGACTGAAATCGCCATGTGTTTTGCCTCAATTGAGTCTAACGGGCCCCAATTCCTCACACTCTGTTCTTTCTCCCAATACCAGGGATCCCCCGGCCCTACTGGTGAACCAGGTCCATCGGGGCCTCCAGGAAAAAGGGTAAATAATCCTGCAGGCACATCCTTGCTGTCAAATCCCTGCATGAAACACCCCCGCCCCTCCCCGTCACCTTTGCTTGGGCCCTGGGTGCTCTAAGCTGCACTGATGAGGAAGGGCTCGGGTGTGGCATGTTCTCCACTTAGCCTCGGCCACATCATCACCTAATCACAGGCTTGCCAGGTCGACGCAGCTGCTCCTTTTAGGACAGGCCGCCTGCTGACACGGTCAGTGATATCCATGGTGGGAGAAAGACACCCGCAAAGCTGCAAAGGTCCTTTTCCCCTGGCTCAGGTTTTACTGAAAAGCCAGAACAAATGAGAAGGCATCTTTTGCAGATTGAATGGTCCAGCCACTTGCTGGTGGGGCAGTAAACAGCTGCCTGGTGCACCCAGGACGGAGGCCACACACAACTCGCGGCGTGCACTGCGCCTCCCCACGTGGCCTGAGAGGCCTTTACCTGGGACTGGAGTCCATAGGACTCATGCTGAGGACCCGTGTCACTGCGGGTGGCCCGGGAGCAGCCTCCATGACCCTGCACCCCTGCCCTGCAGCCCGGCACACCCTGAGCACCTGCACCCGAGCTCGTCCCTCTGCCCCTGCAGGCCACACACACACACACCCTGAGCGCCTGCACCCGAGCTCGTCCCTCCACCCCTGCAGGCCACACTCACCACCTGCTGTTCTCTTGCTTCTTTCAGGGTCCCCCAGGCCCCGCAGGCCCCGAAGGCAGACAGGGAGAGAAAGGGGCCAAGGTAACGTGTTTTGGAGCCAGGCTGTGACCGCGTAGACCTCCCCCAGGGGAGCCCAGAGGGTGGGGAGTGGACAAGCGTGTGGGCAGAGATGTCCATGGAGGCTGAGAGTGGCTGCCCCAGGGGCACCTGGCTCATGGCCTACCTGGGGAGGAGACCTGGTTCTCTCTCAAGGAGGCAGCCAAGTGGTGGCCACAAGACTGGGGCCGTCTGCCTTGCCCACCTGAGGGAGGAGGCGGGTGGTGGGTGCGGGATTCAGGGAGCCCAAGGCTGAGTAGTTATGTCCCCCGGAGCCCTGCGACCTCATGCCTGGTCTTTGAGTCGGCCAGACCTGAGCCGCCTACCTCTGAAGTGGACCGTGTCCGATGGTGACCGTGTCTGCTGCGGGGCCCGTGCAGAAGATGGGACGCCGTCACCCATGCAGTTGGCTTGGGGCCTGGCCCAGAGCACACGGGAGGCTATTCTGTCAGTGAGGTGATGGCGGCCCGGCCTGGCACTGTCTGCCTCCCTCCTGGAGGCGCCTGTTGTTAAGGAGACGGGAGGTTGTGCGGTTCCATCCCTGCTCGGGCAGTGGCGCTGTGACACCCGGTCTGTGGTCGGCGCAGTCAGCGGAGACGGGATCCCTGCTGGCCTGGGAGATGATCGGGATGGAGACTTGACCAGGGCAGCTTCCACAGGCAATGAAATGTGGAGAATTAGGGCAACCCCGGATATGGGGTCACCTGGGACTCCTCCAGAGGTGCCCAGGGTTTCCGAGCAGTGGTCCTGGGCCAGGGTGCCTGGAGCCTAGAGCTCCGGACCTCATTCTGCCCTCCGCCGTCCTGCAGGGAGAAGCCGGCTTGGAAGGCCCTCCTGGGAAGACTGGCCCCATCGGCCCCCAGGGGGCCCCTGGGAAGCCCGGACCGGATGGCCTTCGAGGGATCCCTGGCCCTGTGGTGAGTAGGCTGTGAGGGGCAGAGGGGTTGCCGAGTGGAGGGACGGGGGACCAGCAACTCATGCAGAGCGTCTCTGTGTTTCAGGGAGAACAAGGTCTCCCAGGATCCCCAGGCCCGGACGGTCCCCCCGGCCCCATGGTGAGTCACATTCCTCATGGTGAGCATAGCGGGTGGGATGACTTCGCCACCCAAAGCCCCAAGGATGAGGACTCTGATCCCCCTGCCTCCTCCCACAGGGTCCCCCAGGACTTCCCGGCCTCAAAGGAGATTCTGGTCCCAAAGGTGAAAAGGTAAGAGGGGCCTCCCTGCCCC | GCGGTGCACTCTGCTCTGAGAACAGCTTCAAGACCATTCCATGTGTTGGGTAAATTTTCTAGACACTAGAGGTTTTCATACCAGCTACTGAACCAAAATAGTGGAGATGAGACAGGGCGTGGACTGGAGGAGAAAGCCCTGAGTGATTCTTCTCTGTGGGCCAGGCGGCCGGCTGAGATGCACGAGTGACAGCCAGGCTTTGGGAAGTTGCCCCCGCCCTTGGCCGGCCCTGATTTTGCATCAGGAGGGGCTTCGGAGAGGCACATTCCGGAAGTCTGAAGGTCCAGGTTCTAGTTGCAGCCTGGAGCTCCCAGGAATAGACCTGTGGGCGGAACGCCTGCCCCTTGCTTGGCTCTGGAAAGCAAGAGACCAGCTGACCCCTGCCATGCCCACTGGCCAGGCTTGCTGGCTCTGGGACATGCTGCACGTGGAAGGGTCTCTGGGCCATAAAGTGCACTGGGTTGTCGGAACTGCTGGAAAGTCTTAGGAGCTGGACGGTGGCAGGTGGCCATCTTGAGGTGGTGACATGATTGGCCGTGTGTGGTCTCAGTCAGGTTGCTGATGGCCTTGGCTGCTTCCTTCTTTCTTCCTTTCAGGGCCCAGTGGGTTTTCCTGGAGATCCTGGCCCCCCCGGAGAGCCTGGCCCCGCGGTAGGTGCTCAAGAGGGCAAAGCCACCGGATCCCCCACAGTGCTGGCCTGCCTCTGCCAGCCCCATTTCCCCTCTTTCTGGTGGTTCTTTGTGATGAACTCCCACTGGGGCAGGCAATGTCCCAAAAGGCACTCGTGTTCCGGTGATCAGAGCAAGAAAACGCCTTTGACCCCACTGACCATGCTCTGTGCTGGCACCAGAATGGATTTGGGTTTTGGGAAGGGGCTGGAGATGCATTGGGAACTGGTGCATGAACTCAGGGTGCCATCCGGGGTTCAGCAAGGAGCTCGCTTTTGCCTCCATAGGGTCAAGATGGTCCCCCTGGTGACAAAGGAGATGATGGTGAACCCGGGCAGACGGTGAGTCCACAATCTGGGCTGGCTTCCTGGTGGAGGTGTCAGTGTATTCTTGGGACCTTGCAGCTTGCTTGACTCATTTCTGGGAAAAACTCCAACCTAGTTGATATTGATTCCTTTATGATATCGATTCCCTTATGATATTGATTCCCTTATGATGTTGATTCCCTTATGATATTGATTCTGGACAGTGACAGAGCTCATGAACTCCCTCTGAGATGCACGTGCTGTCTCAGCAGCAGGTTTGCAGGCAGCCCCAGGGCTTCCACGACCCACCATGGGCTCGCCCGGGAACGTCAGATCTTACCCACAGCTCTGCCTAGCAGGGCCAGTGCCTCTCCTCACCAGGCCCTTCCTGCCTTACCTTGACCGAGATCACACTGGACGTTGCATCTGACGCTTGGCGTTGAGTGTTTTAAACACCGCTTCAAGCCCAGAACGTCTTTCTGGGACGGATCGACCCCCATGGGCCCTGGGCAGGACTGGGCCTGGAGGAGGCCCCTGAGGCCTTGCAGATGCCCTTGCCCCACCTTGCACCCAGCCTGGCCAAGCGCGGGGGACTGCGGACCTGAGGGCAAAGGCCATGTCACTGAGTTGAGAGGAGCGTCCACTCAGAGAAGGGGTTAGGGATCTAGCCTCGGGCTGGATTTCCCTGACAGACACCCCCAGTCCACCACTTCCCGGCCTGTGTCCTGGGACGATTCTTGTCCCCCCTTCTGTGAAAGGGGATGCCAGTGCCTCGTCCCTGCCCAGGTTGTGGTGGGGACCGAACCGTCATTGTGTATCAAGAGTCAGCACTGTGAGTGGGGAAGTTCTCTTCCAAAATGCAGAAAACCCGCAGGATGGGAGTTGGGGTTCCTTACGCTGTCACAGCCCGGGTGCGACACTGTCTTAGGACCCTCTGTGCTAGCCCCAAAAGAAGAGAGAGGCGGCCGCAGGGCTGGCCGAGGAGTAAATAGACTGAAATCGCCATGTGTTTTGCCTCAATTGAGTCTAACGGGCCCCAATTCCTCACACTCTGTTCTTTCTCCCAATACCAGGGATTCCCCCGGCCCTACTGGTGAACCAGGTCCATCGGGGCCTCCAGGAAAAAGGGTAAATAATCCTGCAGGCACATCCTTGCTGTCAAATCCCTGCATGAAACACCCCCGCCCCTCCCCGTCACCTTTGCTTGGGCCCTGGGTGCTCTAAGCTGCACTGATGAGGAAGGGCTCGGGTGTGGCATGTTCTCCACTTAGCCTCGGCCACATCATCACCTAATCACAGGCTTGCCAGGTCGACGCAGCTGCTCCTTTTAGGACAGGCCGCCTGCTGACACGGTCAGTGATATCCATGGTGGGAGAAAGACACCCGCAAAGCTGCAAAGGTCCTTTTCCCCTGGCTCAGGTTTTACTGAAAAGCCAGAACAAATGAGAAGGCATCTTTTGCAGATTGAATGGTCCAGCCACTTGCTGGTGGGGCAGTAAACAGCTGCCTGGTGCACCCAGGACGGAGGCCACACACAACTCGCGGCGTGCACTGCGCCTCCCCACGTGGCCTGAGAGGCCTTTACCTGGGACTGGAGTCCATAGGACTCATGCTGAGGACCCGTGTCACTGCGGGTGGCCCGGGAGCAGCCTCCATGACCCTGCACCCCTGCCCTGCAGCCCGGCACACCCTGAGCACCTGCACCCGAGCTCGTCCCTCTGCCCCTGCAGGCCACACACACACACACCCTGAGCGCCTGCACCCGAGCTCGTCCCTCCACCCCTGCAGGCCACACTCACCACCTGCTGTTCTCTTGCTTCTTTCAGGGTCCCCCAGGCCCCGCAGGCCCCGAAGGCAGACAGGGAGAGAAAGGGGCCAAGGTAACGTGTTTTGGAGCCAGGCTGTGACCGCGTAGACCTCCCCCAGGGGAGCCCAGAGGGTGGGGAGTGGACAAGCGTGTGGGCAGAGATGTCCATGGAGGCTGAGAGTGGCTGCCCCAGGGGCACCTGGCTCATGGCCTACCTGGGGAGGAGACCTGGTTCTCTCTCAAGGAGGCAGCCAAGTGGTGGCCACAAGACTGGGGCCGTCTGCCTTGCCCACCTGAGGGAGGAGGCGGGTGGTGGGTGCGGGATTCAGGGAGCCCAAGGCTGAGTAGTTATGTCCCCCGGAGCCCTGCGACCTCATGCCTGGTCTTTGAGTCGGCCAGACCTGAGCCGCCTACCTCTGAAGTGGACCGTGTCCGATGGTGACCGTGTCTGCTGCGGGGCCCGTGCAGAAGATGGGACGCCGTCACCCATGCAGTTGGCTTGGGGCCTGGCCCAGAGCACACGGGAGGCTATTCTGTCAGTGAGGTGATGGCGGCCCGGCCTGGCACTGTCTGCCTCCCTCCTGGAGGCGCCTGTTGTTAAGGAGACGGGAGGTTGTGCGGTTCCATCCCTGCTCGGGCAGTGGCGCTGTGACACCCGGTCTGTGGTCGGCGCAGTCAGCGGAGACGGGATCCCTGCTGGCCTGGGAGATGATCGGGATGGAGACTTGACCAGGGCAGCTTCCACAGGCAATGAAATGTGGAGAATTAGGGCAACCCCGGATATGGGGTCACCTGGGACTCCTCCAGAGGTGCCCAGGGTTTCCGAGCAGTGGTCCTGGGCCAGGGTGCCTGGAGCCTAGAGCTCCGGACCTCATTCTGCCCTCCGCCGTCCTGCAGGGAGAAGCCGGCTTGGAAGGCCCTCCTGGGAAGACTGGCCCCATCGGCCCCCAGGGGGCCCCTGGGAAGCCCGGACCGGATGGCCTTCGAGGGATCCCTGGCCCTGTGGTGAGTAGGCTGTGAGGGGCAGAGGGGTTGCCGAGTGGAGGGACGGGGGACCAGCAACTCATGCAGAGCGTCTCTGTGTTTCAGGGAGAACAAGGTCTCCCAGGATCCCCAGGCCCGGACGGTCCCCCCGGCCCCATGGTGAGTCACATTCCTCATGGTGAGCATAGCGGGTGGGATGACTTCGCCACCCAAAGCCCCAAGGATGAGGACTCTGATCCCCCTGCCTCCTCCCACAGGGTCCCCCAGGACTTCCCGGCCTCAAAGGAGATTCTGGTCCCAAAGGTGAAAAGGTAAGAGGGGCCTCCCTGCCC | pathogenic | 154,314 |
The genetic variant at chromosome 9, position 134823462, affecting gene COL5A1: benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Ehlers-Danlos_syndrome', 'Ehlers-Danlos_syndrome,_classic_type,_1', 'Familial_thoracic_aortic_aneurysm_and_aortic_dissection'] | ACGGCCATCAGCCCTCCGCTACCCTCGCCCCCAGCTTCTGCCCGGAGAGAGCTCTGAGTGGAATCCAGGGCTGTAGGGAGAGAGGCTGCAGGTGGCTCCAGCTGCCCGTGGCAAAGCTGGTCAAAGCTGTTCTGTGCCAGCAGCTCAGTCTGGGAGGGAGTCAGTGGGGAGAAGGGGTCTGAGCGGAGGTTCCACGCTCCAAGGATGCAGAAAGCACATTTACAGGCAGGACAGGACAGTCAGCATGGATGGGACTCCCTGCCCAACCCCTCCGGGCTTAGTTCTAGAGGGGAGACTAACACCATGAGCAGGAAACAGCAAGAGGGGCCCAAGCCAGGGCCACAATGTCAGGGCAGTGGTTTCTGTATTTCCAAATGAACGTGAAAAGAGGTGCTCAGCCTGAAGTCCTCGGTGGCCTGGGGGATGAGAGTGAGTTCCTGGCAGCCCAGCCGGGGGAGCAGTGCCGAGGGCTGGCAGCCTTGGGGTGGATGCTCAGGTCGATGGCTCCCCTGACATGCACAGCCCAGGATCAGAAAGCAGCCACAGGAGGCTGCTGAGGGGCCAAAGGGCATACCGTGGGGAAGGGACAGGGGAGCCGAGGGGTGTGGCTGGGTAGCAGGGTTGCAGCCCCGCAGCTCCTCCTCGTCTGAAGGTGATAACCTGCATTTTCTGGTCCTTTTCAGGGTATCACTGGTCCTTCTGGCCCGATTGGGCCTCCTGGGCCCCCTGGCCTGCCGGTGTGTATCTGGGAGGGGCTTGGTCATTCCTGGGAGGGCAGGGAGGGTGGGGATAAGCCTTGGGGCCTCAGTGTGGAGCTAGAGAATTGTGGAAAAGTCACACGAGAAGCTGGAATTGGGGCCTCCAGGGTGGATTTGCCCATTAACTCAACATTGGGGTTCCAGGAGACAGAAGAAAGGAAGTGGCGTTGCCCGGCCATGGTTTTTGGTGGGGAAGACAGGGACAGGAAACGGTGGCCATTTCAGGGAACGAGGCCACTTGTCTGTAGGCATCTGGGGAGGGTGCGGAAGGTAGTAGTTGGCTCTCCAGCCCTCCCAATTCCCAGGAGCCCGGCCAGCCTGGCCCAGACAAGAGCAGTTAGCTGCCCTCCTCTGGCACCGCTGCCTGGGTCTCACATTGCTGGGAGACCCAGCATTCCCAGGGCATCCCCACAGCCGCTGGGCTGCAGGTACACATGGCCCCCGGGGGCCCCTGGCACGCTGAGGGCTGGCCCCTGCTGTGTGCTATCAGGGCTGGGGGGTGCATTCCATCAGCCCCTTCTGAGCCAGGACATGCTCTTTTCCGCTGCGCCCCCCCCGCGGCTGTCTGAGCTGGGGTTTCCTAGCCAGGGTGGGTGGTAGGCTGGCCGGGGGCAGGTAGGACCACCCTGTGTCTCCACGAGGGGTGAGCACCAGCCAGGCCCCGACCCTCCTCCCACTCTAGCCGGGCAAATACAAGCATAGACTCTTGAGGGGGATGCGGGTGGGAGAGGGGCGAGGGGCGAGACCAGGCTGGGCAGGACATGGAGCACGGTGGGGCTGGAGCTGAGACCCGGCTTGCTGACGTTCTGCCCTCCTCTCTCTGCAGGGTCCGCCTGGTCCAAAAGGTGCTAAGGGCTCCTCGGTAAGTAACATGCTGCCCAGCCAGGCCAATGCCTGGAAGGTAGGGGAGGGCGACGGGTCCCCTGGCACGGGAACAAACTACCCAGACAACCGTCCTAGCTCAGGCCCTGCTGCTCACGATCCTCCCATCTTTCTACACTGACCCATGGCGGACTGAGGCAGGTGGGCTGCTCGCCGCCTGCCCTAGGAAGGGCTCCATCCCTCTCTGTTCTCATCTCAAGGATCCAGGAGGGTACAGGGGTCTCTGCCATTCTCTTCTCTGCTGTGGCTGATAGGGCCACCTCCCCCACATAGGTCTCCAGGGACCATTCTAGAGCTGAAGGTGGATTCAAAGTCCCCTCATACCTCTGTGACCAAGGGTTGATTCTTTTCTTTCTCCCCAGGGTCCAACTGGCCCGAAGGGTGAGGCAGGCCACCCAGGACCCCCAGGCCCCCCGGTAAGTAGCCCTTGAAGCCCAGAAAGCGGGACGGGGGCTCTGGCTAGCTCCGAGGGAATTGAGAAAGCAACTGTGTGTGTGTGACCCCTCCTGAGACTCATGAAGCCCATGTGGCATGCCCGGGCCTTGTCCCTCGCACGCAGCCGGGGAAATGAGCCACACAGGTCTATCACAGGAAGCTTACAGGCCAATTGGCCCTGAGAAGAACAGCTGGCCAGGAGAGAGAGGATACACGTGTGTGCTGTGTGTGCATGCATGGTATATGAATGTGTGAACGTGTAGTATATGCGTGTATGTGACTGGGCACGTGTGTGTGCATGTCTGTATGTGTACGTGCATCCTGTATATGTGCATGCATGTGTAATGTGTGTGTACATGGTTTGTATGTGCATGTGTGTGTGCATGATGTGTGTATGGGTATGCATGCATATATGTGGGGCACATATGTGTGTGCATGTGTAGTGTGTGTATATTGTATACGTGCATGCATGGCCGTGTGTGTGTGCATATGTATATGTGTACATGCATGTCTGGGATATATGTGCATGTGTGTGTGTGTGTTGGGATGGGGGAGCACTAGACAAGGCCCTGGAGGTGAAAGGTGAAGCCCAGTTTGAACCAGGGCATGGCGAGTGCACTATTGGACACCCCCCTTTGGTTGTGGAGTCTCTCCAACTCCCATCGTCATCTTAGCTGTGGCCTTCTGGAAGTGAATGGCTCTTTGCATCAGGAGGCATTCATGTGGCCCCACTGTGTTCAGCCCCAGCTAGGGCTGCAGAGGCCAGACTGGGGAGACCTGGTCCCTTTCCTCAAGGCTTGGCCTTTTGTGTGGCTGAGGGCAGGATGGCAGATGCAAGCCCAAGGCTGCAAACTGTTAAGTTTCAGCTCTAGAGAGAAAGGAGAGGTGCTCCATGCTGGCAAGCACCTGGCAGTGGGGATGGGTGTGGAATGTTCCAGAGACTGGAGGAAGGGATGGAAACAGTTCTAAGGCGGACAGATGTCCATGTAGCCCAGGTTGCCAGGCCCCAGGGAACCCCTGCAGATGTGGCCCCAGCTGTCCCTGCTCTGCTCATATCCTGGGACCCTTCCCATCCTCCATCACCCACCGCTGCTCCTGTTCTGTCCCCCAGGGCCCCCCGGGAGAGGTCATCCAGCCCCTGCCAATCCAGGCATCCAGGACGCGGCGGAACATCGACGCCAGCCAGCTGCTGGACGACGGGAATGGCGAGAACTACGTGGACTACGCGGACGGCATGGAAGAGATCTTCGGCTCTCTCAACTCTCTGAAGCTGGAGATTGAGCAGATGAAACGGCCCCTGGGCACGCAGCAGAACCCCGCCCGCACCTGCAAGGACCTGCAGCTCTGCCACCCCGACTTCCCAGATGGTGAGGGCCTGGGGGGGCAGGGGTGGCCCCCCAAAGCGGGCATGGACCTGCAGGACACATGGAGTGTGGCAAGGACAGTTCAGCCAGGCACAGCGGAAGGGACAGGACGGGCAGCCGCAGCCTCCCCATCTGTGGGGCCGGGGTGCGCAAGAGCCTCCCCTCTTGAACTTTATGGAGGCATCTCAGGGTGAGGCCGGGTGCAGAGGCCAAGGCTTTGAGGTCAGACTCTCCAGGTTCTCATCTGGTCTTAGGCATTTTCTGGCGGGGTGACCTGCTTGAACCTCGTGTTCCTGACCTGTCAAATGGGAACAGAAACATCTCCCAGGAAGAGGACAGAGTTGCGTGAGGCAGTGCCTGAGAGGCTGGCACAGTGCCAGTGGAAGTAAGGGTCAGTGTTAGGACCGGCAGCAGACGCTGTGCTTGGGCAAACGGCCTTCAAACTCCGCGATACTGTAAAAACACATCCTTCTCCTCACCATCATAGCCTCAGGCACCAATTGAAGGATAAATTCCCATTAGCTTTTCTTCCCCCTGGGAAGTTTGAATGTTCCCCCTGCAAGATTCGAGGGATGTTCATGGTTCCAGTAGACTCTGATCCTACATGCATGAATTTCCAGAGTTCCTTCCAGAACCCTCTCTGCATTTCTGTCCACC | ACGGCCATCAGCCCTCCGCTACCCTCGCCCCCAGCTTCTGCCCGGAGAGAGCTCTGAGTGGAATCCAGGGCTGTAGGGAGAGAGGCTGCAGGTGGCTCCAGCTGCCCGTGGCAAAGCTGGTCAAAGCTGTTCTGTGCCAGCAGCTCAGTCTGGGAGGGAGTCAGTGGGGAGAAGGGGTCTGAGCGGAGGTTCCACGCTCCAAGGATGCAGAAAGCACATTTACAGGCAGGACAGGACAGTCAGCATGGATGGGACTCCCTGCCCAACCCCTCCGGGCTTAGTTCTAGAGGGGAGACTAACACCATGAGCAGGAAACAGCAAGAGGGGCCCAAGCCAGGGCCACAATGTCAGGGCAGTGGTTTCTGTATTTCCAAATGAACGTGAAAAGAGGTGCTCAGCCTGAAGTCCTCGGTGGCCTGGGGGATGAGAGTGAGTTCCTGGCAGCCCAGCCGGGGGAGCAGTGCCGAGGGCTGGCAGCCTTGGGGTGGATGCTCAGGTCGATGGCTCCCCTGACATGCACAGCCCAGGATCAGAAAGCAGCCACAGGAGGCTGCTGAGGGGCCAAAGGGCATACCGTGGGGAAGGGACAGGGGAGCCGAGGGGTGTGGCTGGGTAGCAGGGTTGCAGCCCCGCAGCTCCTCCTCGTCTGAAGGTGATAACCTGCATTTTCTGGTCCTTTTCAGGGTATCACTGGTCCTTCTGGCCCGATTGGGCCTCCTGGGCCCCCTGGCCTGCCGGTGTGTATCTGGGAGGGGCTTGGTCATTCCTGGGAGGGCAGGGAGGGTGGGGATAAGCCTTGGGGCCTCAGTGTGGAGCTAGAGAATTGTGGAAAAGTCACACGAGAAGCTGGAATTGGGGCCTCCAGGGTGGATTTGCCCATTAACTCAACATTGGGGTTCCAGGAGACAGAAGAAAGGAAGTGGCGTTGCCCGGCCATGGTTTTTGGTGGGGAAGACAGGGACAGGAAACGGTGGCCATTTCAGGGAACGAGGCCACTTGTCTGTAGGCATCTGGGGAGGGTGCGGAAGGTAGTAGTTGGCTCTCCAGCCCTCCCAATTCCCAGGAGCCCGGCCAGCCTGGCCCAGACAAGAGCAGTTAGCTGCCCTCCTCTGGCACCGCTGCCTGGGTCTCACATTGCTGGGAGACCCAGCATTCCCAGGGCATCCCCACAGCCGCTGGGCTGCAGGTACACATGGCCCCCGGGGGCCCCTGGCACGCTGAGGGCTGGCCCCTGCTGTGTGCTATCAGGGCTGGGGGGTGCATTCCATCAGCCCCTTCTGAGCCAGGACATGCTCTTTTCCGCTGCGCCCCCCCCGCGGCTGTCTGAGCTGGGGTTTCCTAGCCAGGGTGGGTGGTAGGCTGGCCGGGGGCAGGTAGGACCACCCTGTGTCTCCACGAGGGGTGAGCACCAGCCAGGCCCCGACCCTCCTCCCACTCTAGCCGGGCAAATACAAGCATAGACTCTTGAGGGGGATGCGGGTGGGAGAGGGGCGAGGGGCGAGACCAGGCTGGGCAGGACATGGAGCACGGTGGGGCTGGAGCTGAGACCCGGCTTGCTGACGTTCTGCCCTCCTCTCTCTGCAGGGTCCGCCTGGTCCAAAAGGTGCTAAGGGCTCCTCGGTAAGTAACATGCTGCCCAGCCAGGCCAATGCCTGGAAGGTAGGGGAGGGCGACGGGTCCCCTGGCACGGGAACAAACTACCCAGACAACCGTCCTAGCTCAGGCCCTGCTGCTCACGATCCTCCCATCTTTCTACACTGACCCATGGCGGACTGAGGCAGGTGGGCTGCTCGCCGCCTGCCCTAGGAAGGGCTCCATCCCTCTCTGTTCTCATCTCAAGGATCCAGGAGGGTACAGGGGTCTCTGCCATTCTCTTCTCTGCTGTGGCTGATAGGGCCACCTCCCCCACATAGGTCTCCAGGGACCATTCTAGAGCTGAAGGTGGATTCAAAGTCCCCTCATACCTCTGTGACCAAGGGTTGATTCTTTTCTTTCTCCCCAGGGTCCAACTGGCCCGAAGGGTGAGGCAGGCCACCCAGGACCCCCAGGCCCCCCCGGTAAGTAGCCCTTGAAGCCCAGAAAGCGGGACGGGGGCTCTGGCTAGCTCCGAGGGAATTGAGAAAGCAACTGTGTGTGTGTGACCCCTCCTGAGACTCATGAAGCCCATGTGGCATGCCCGGGCCTTGTCCCTCGCACGCAGCCGGGGAAATGAGCCACACAGGTCTATCACAGGAAGCTTACAGGCCAATTGGCCCTGAGAAGAACAGCTGGCCAGGAGAGAGAGGATACACGTGTGTGCTGTGTGTGCATGCATGGTATATGAATGTGTGAACGTGTAGTATATGCGTGTATGTGACTGGGCACGTGTGTGTGCATGTCTGTATGTGTACGTGCATCCTGTATATGTGCATGCATGTGTAATGTGTGTGTACATGGTTTGTATGTGCATGTGTGTGTGCATGATGTGTGTATGGGTATGCATGCATATATGTGGGGCACATATGTGTGTGCATGTGTAGTGTGTGTATATTGTATACGTGCATGCATGGCCGTGTGTGTGTGCATATGTATATGTGTACATGCATGTCTGGGATATATGTGCATGTGTGTGTGTGTGTTGGGATGGGGGAGCACTAGACAAGGCCCTGGAGGTGAAAGGTGAAGCCCAGTTTGAACCAGGGCATGGCGAGTGCACTATTGGACACCCCCCTTTGGTTGTGGAGTCTCTCCAACTCCCATCGTCATCTTAGCTGTGGCCTTCTGGAAGTGAATGGCTCTTTGCATCAGGAGGCATTCATGTGGCCCCACTGTGTTCAGCCCCAGCTAGGGCTGCAGAGGCCAGACTGGGGAGACCTGGTCCCTTTCCTCAAGGCTTGGCCTTTTGTGTGGCTGAGGGCAGGATGGCAGATGCAAGCCCAAGGCTGCAAACTGTTAAGTTTCAGCTCTAGAGAGAAAGGAGAGGTGCTCCATGCTGGCAAGCACCTGGCAGTGGGGATGGGTGTGGAATGTTCCAGAGACTGGAGGAAGGGATGGAAACAGTTCTAAGGCGGACAGATGTCCATGTAGCCCAGGTTGCCAGGCCCCAGGGAACCCCTGCAGATGTGGCCCCAGCTGTCCCTGCTCTGCTCATATCCTGGGACCCTTCCCATCCTCCATCACCCACCGCTGCTCCTGTTCTGTCCCCCAGGGCCCCCCGGGAGAGGTCATCCAGCCCCTGCCAATCCAGGCATCCAGGACGCGGCGGAACATCGACGCCAGCCAGCTGCTGGACGACGGGAATGGCGAGAACTACGTGGACTACGCGGACGGCATGGAAGAGATCTTCGGCTCTCTCAACTCTCTGAAGCTGGAGATTGAGCAGATGAAACGGCCCCTGGGCACGCAGCAGAACCCCGCCCGCACCTGCAAGGACCTGCAGCTCTGCCACCCCGACTTCCCAGATGGTGAGGGCCTGGGGGGGCAGGGGTGGCCCCCCAAAGCGGGCATGGACCTGCAGGACACATGGAGTGTGGCAAGGACAGTTCAGCCAGGCACAGCGGAAGGGACAGGACGGGCAGCCGCAGCCTCCCCATCTGTGGGGCCGGGGTGCGCAAGAGCCTCCCCTCTTGAACTTTATGGAGGCATCTCAGGGTGAGGCCGGGTGCAGAGGCCAAGGCTTTGAGGTCAGACTCTCCAGGTTCTCATCTGGTCTTAGGCATTTTCTGGCGGGGTGACCTGCTTGAACCTCGTGTTCCTGACCTGTCAAATGGGAACAGAAACATCTCCCAGGAAGAGGACAGAGTTGCGTGAGGCAGTGCCTGAGAGGCTGGCACAGTGCCAGTGGAAGTAAGGGTCAGTGTTAGGACCGGCAGCAGACGCTGTGCTTGGGCAAACGGCCTTCAAACTCCGCGATACTGTAAAAACACATCCTTCTCCTCACCATCATAGCCTCAGGCACCAATTGAAGGATAAATTCCCATTAGCTTTTCTTCCCCCTGGGAAGTTTGAATGTTCCCCCTGCAAGATTCGAGGGATGTTCATGGTTCCAGTAGACTCTGATCCTACATGCATGAATTTCCAGAGTTCCTTCCAGAACCCTCTCTGCATTTCTGTCCAC | pathogenic | 154,410 |
Benign or pathogenic: chromosome 9, position 134824592, gene COL5A1 variant? Disease(s) if pathogenic? | benign | CACATTGCTGGGAGACCCAGCATTCCCAGGGCATCCCCACAGCCGCTGGGCTGCAGGTACACATGGCCCCCGGGGGCCCCTGGCACGCTGAGGGCTGGCCCCTGCTGTGTGCTATCAGGGCTGGGGGGTGCATTCCATCAGCCCCTTCTGAGCCAGGACATGCTCTTTTCCGCTGCGCCCCCCCCGCGGCTGTCTGAGCTGGGGTTTCCTAGCCAGGGTGGGTGGTAGGCTGGCCGGGGGCAGGTAGGACCACCCTGTGTCTCCACGAGGGGTGAGCACCAGCCAGGCCCCGACCCTCCTCCCACTCTAGCCGGGCAAATACAAGCATAGACTCTTGAGGGGGATGCGGGTGGGAGAGGGGCGAGGGGCGAGACCAGGCTGGGCAGGACATGGAGCACGGTGGGGCTGGAGCTGAGACCCGGCTTGCTGACGTTCTGCCCTCCTCTCTCTGCAGGGTCCGCCTGGTCCAAAAGGTGCTAAGGGCTCCTCGGTAAGTAACATGCTGCCCAGCCAGGCCAATGCCTGGAAGGTAGGGGAGGGCGACGGGTCCCCTGGCACGGGAACAAACTACCCAGACAACCGTCCTAGCTCAGGCCCTGCTGCTCACGATCCTCCCATCTTTCTACACTGACCCATGGCGGACTGAGGCAGGTGGGCTGCTCGCCGCCTGCCCTAGGAAGGGCTCCATCCCTCTCTGTTCTCATCTCAAGGATCCAGGAGGGTACAGGGGTCTCTGCCATTCTCTTCTCTGCTGTGGCTGATAGGGCCACCTCCCCCACATAGGTCTCCAGGGACCATTCTAGAGCTGAAGGTGGATTCAAAGTCCCCTCATACCTCTGTGACCAAGGGTTGATTCTTTTCTTTCTCCCCAGGGTCCAACTGGCCCGAAGGGTGAGGCAGGCCACCCAGGACCCCCAGGCCCCCCGGTAAGTAGCCCTTGAAGCCCAGAAAGCGGGACGGGGGCTCTGGCTAGCTCCGAGGGAATTGAGAAAGCAACTGTGTGTGTGTGACCCCTCCTGAGACTCATGAAGCCCATGTGGCATGCCCGGGCCTTGTCCCTCGCACGCAGCCGGGGAAATGAGCCACACAGGTCTATCACAGGAAGCTTACAGGCCAATTGGCCCTGAGAAGAACAGCTGGCCAGGAGAGAGAGGATACACGTGTGTGCTGTGTGTGCATGCATGGTATATGAATGTGTGAACGTGTAGTATATGCGTGTATGTGACTGGGCACGTGTGTGTGCATGTCTGTATGTGTACGTGCATCCTGTATATGTGCATGCATGTGTAATGTGTGTGTACATGGTTTGTATGTGCATGTGTGTGTGCATGATGTGTGTATGGGTATGCATGCATATATGTGGGGCACATATGTGTGTGCATGTGTAGTGTGTGTATATTGTATACGTGCATGCATGGCCGTGTGTGTGTGCATATGTATATGTGTACATGCATGTCTGGGATATATGTGCATGTGTGTGTGTGTGTTGGGATGGGGGAGCACTAGACAAGGCCCTGGAGGTGAAAGGTGAAGCCCAGTTTGAACCAGGGCATGGCGAGTGCACTATTGGACACCCCCCTTTGGTTGTGGAGTCTCTCCAACTCCCATCGTCATCTTAGCTGTGGCCTTCTGGAAGTGAATGGCTCTTTGCATCAGGAGGCATTCATGTGGCCCCACTGTGTTCAGCCCCAGCTAGGGCTGCAGAGGCCAGACTGGGGAGACCTGGTCCCTTTCCTCAAGGCTTGGCCTTTTGTGTGGCTGAGGGCAGGATGGCAGATGCAAGCCCAAGGCTGCAAACTGTTAAGTTTCAGCTCTAGAGAGAAAGGAGAGGTGCTCCATGCTGGCAAGCACCTGGCAGTGGGGATGGGTGTGGAATGTTCCAGAGACTGGAGGAAGGGATGGAAACAGTTCTAAGGCGGACAGATGTCCATGTAGCCCAGGTTGCCAGGCCCCAGGGAACCCCTGCAGATGTGGCCCCAGCTGTCCCTGCTCTGCTCATATCCTGGGACCCTTCCCATCCTCCATCACCCACCGCTGCTCCTGTTCTGTCCCCCAGGGCCCCCCGGGAGAGGTCATCCAGCCCCTGCCAATCCAGGCATCCAGGACGCGGCGGAACATCGACGCCAGCCAGCTGCTGGACGACGGGAATGGCGAGAACTACGTGGACTACGCGGACGGCATGGAAGAGATCTTCGGCTCTCTCAACTCTCTGAAGCTGGAGATTGAGCAGATGAAACGGCCCCTGGGCACGCAGCAGAACCCCGCCCGCACCTGCAAGGACCTGCAGCTCTGCCACCCCGACTTCCCAGATGGTGAGGGCCTGGGGGGGCAGGGGTGGCCCCCCAAAGCGGGCATGGACCTGCAGGACACATGGAGTGTGGCAAGGACAGTTCAGCCAGGCACAGCGGAAGGGACAGGACGGGCAGCCGCAGCCTCCCCATCTGTGGGGCCGGGGTGCGCAAGAGCCTCCCCTCTTGAACTTTATGGAGGCATCTCAGGGTGAGGCCGGGTGCAGAGGCCAAGGCTTTGAGGTCAGACTCTCCAGGTTCTCATCTGGTCTTAGGCATTTTCTGGCGGGGTGACCTGCTTGAACCTCGTGTTCCTGACCTGTCAAATGGGAACAGAAACATCTCCCAGGAAGAGGACAGAGTTGCGTGAGGCAGTGCCTGAGAGGCTGGCACAGTGCCAGTGGAAGTAAGGGTCAGTGTTAGGACCGGCAGCAGACGCTGTGCTTGGGCAAACGGCCTTCAAACTCCGCGATACTGTAAAAACACATCCTTCTCCTCACCATCATAGCCTCAGGCACCAATTGAAGGATAAATTCCCATTAGCTTTTCTTCCCCCTGGGAAGTTTGAATGTTCCCCCTGCAAGATTCGAGGGATGTTCATGGTTCCAGTAGACTCTGATCCTACATGCATGAATTTCCAGAGTTCCTTCCAGAACCCTCTCTGCATTTCTGTCCACCCAGAGAGTAGGCCGGACCCCAACCCTCCTGGCCACCAGAACACGTACCCAGTTGCTTCATGCACCAGCTGTGTTCTTGGTGAATGAGTTTGTCCACATCTCTTTATGGGCCCAGCAGGAGAAGCAAAATGCAATAAAGTAAACCCCAGAAAGGCCCGTGTTGGCGGCATTCCTGGGGCGTGCATTTTAACTGCTGGACTGAAATGTCACAGCGGCTTCCGGAACCATCCAGGGAGCAATCCTTCTGACTCTGCCTGCCTCCCTCCCCGTCTCTGAAATCCAGGTGAATACTGGGTCGATCCTAACCAAGGATGCTCCAGGGATTCCTTCAAGGTTTACTGCAACTTCACAGCCGGGGGGTCGACATGCGTCTTCCCTGACAAGAAGTCCGAAGGGGTGAGTAGCTGTGTCCCTCCATGGCCCCAGCGGGGCAGGCGTCACAGACAGGGCCATGCCGAGGGCTTCAAGCATTTCTTGTATATGCAGCTTTAAGACTGAAAGCCAGAAATGAATCCGTTTCATCAGTGAAACTGTTCTTTCAGAAGTAGACCTGAAATTGTTTTAAGAAATTTTTTAGTAATAAAATAGGTTTGTGCAGCCCGGGGTCAGGAAGGGTTGGAGGGCTTTCCACCTGGCATCCTGCCGTCCCAGGGCTGGGACTTCACTCACTGGTTGATAAAAGCTTTTCTCCGGTGACTCAGTGGTCCCACTGACCTGAGACCCCCATTAAAACCCTTTAAAGGAATTGGGAGCAGGTACAATAACGTGAGCCTGAGACATCTTCCGGAAGCTGCCCTTTGCCTCAATTCTTATTATCCAGCCTGTTTCTGTGGGTTGGCCCTGGTCCCTCCTGAGTGCTTTGTTTTGAAGTCTGTTTAGTGAAGAATTCGGGGTGGGGAGCTGGGCTCTGTTGAGATTTTGTGGCATGTCACTTAAATACCCACCTCTGTGGCCTTTCGGAGGCCTCAGCGCTGTAGCAGGAGTTTGTGTGCATGTGGATGGTGTGTGGGCACATGTGGATGAGTGTGTGGATGGGTGTGTGAATGGTGTGTGTGTGTGTGTAGATGCTGTGTGGTTTTGTAGTTGGGGTGTATGTGGATGGTGTGTGTGTAGATGGCATGTGGATGATGT | CACATTGCTGGGAGACCCAGCATTCCCAGGGCATCCCCACAGCCGCTGGGCTGCAGGTACACATGGCCCCCGGGGGCCCCTGGCACGCTGAGGGCTGGCCCCTGCTGTGTGCTATCAGGGCTGGGGGGTGCATTCCATCAGCCCCTTCTGAGCCAGGACATGCTCTTTTCCGCTGCGCCCCCCCCGCGGCTGTCTGAGCTGGGGTTTCCTAGCCAGGGTGGGTGGTAGGCTGGCCGGGGGCAGGTAGGACCACCCTGTGTCTCCACGAGGGGTGAGCACCAGCCAGGCCCCGACCCTCCTCCCACTCTAGCCGGGCAAATACAAGCATAGACTCTTGAGGGGGATGCGGGTGGGAGAGGGGCGAGGGGCGAGACCAGGCTGGGCAGGACATGGAGCACGGTGGGGCTGGAGCTGAGACCCGGCTTGCTGACGTTCTGCCCTCCTCTCTCTGCAGGGTCCGCCTGGTCCAAAAGGTGCTAAGGGCTCCTCGGTAAGTAACATGCTGCCCAGCCAGGCCAATGCCTGGAAGGTAGGGGAGGGCGACGGGTCCCCTGGCACGGGAACAAACTACCCAGACAACCGTCCTAGCTCAGGCCCTGCTGCTCACGATCCTCCCATCTTTCTACACTGACCCATGGCGGACTGAGGCAGGTGGGCTGCTCGCCGCCTGCCCTAGGAAGGGCTCCATCCCTCTCTGTTCTCATCTCAAGGATCCAGGAGGGTACAGGGGTCTCTGCCATTCTCTTCTCTGCTGTGGCTGATAGGGCCACCTCCCCCACATAGGTCTCCAGGGACCATTCTAGAGCTGAAGGTGGATTCAAAGTCCCCTCATACCTCTGTGACCAAGGGTTGATTCTTTTCTTTCTCCCCAGGGTCCAACTGGCCCGAAGGGTGAGGCAGGCCACCCAGGACCCCCAGGCCCCCCGGTAAGTAGCCCTTGAAGCCCAGAAAGCGGGACGGGGGCTCTGGCTAGCTCCGAGGGAATTGAGAAAGCAACTGTGTGTGTGTGACCCCTCCTGAGACTCATGAAGCCCATGTGGCATGCCCGGGCCTTGTCCCTCGCACGCAGCCGGGGAAATGAGCCACACAGGTCTATCACAGGAAGCTTACAGGCCAATTGGCCCTGAGAAGAACAGCTGGCCAGGAGAGAGAGGATACACGTGTGTGCTGTGTGTGCATGCATGGTATATGAATGTGTGAACGTGTAGTATATGCGTGTATGTGACTGGGCACGTGTGTGTGCATGTCTGTATGTGTACGTGCATCCTGTATATGTGCATGCATGTGTAATGTGTGTGTACATGGTTTGTATGTGCATGTGTGTGTGCATGATGTGTGTATGGGTATGCATGCATATATGTGGGGCACATATGTGTGTGCATGTGTAGTGTGTGTATATTGTATACGTGCATGCATGGCCGTGTGTGTGTGCATATGTATATGTGTACATGCATGTCTGGGATATATGTGCATGTGTGTGTGTGTGTTGGGATGGGGGAGCACTAGACAAGGCCCTGGAGGTGAAAGGTGAAGCCCAGTTTGAACCAGGGCATGGCGAGTGCACTATTGGACACCCCCCTTTGGTTGTGGAGTCTCTCCAACTCCCATCGTCATCTTAGCTGTGGCCTTCTGGAAGTGAATGGCTCTTTGCATCAGGAGGCATTCATGTGGCCCCACTGTGTTCAGCCCCAGCTAGGGCTGCAGAGGCCAGACTGGGGAGACCTGGTCCCTTTCCTCAAGGCTTGGCCTTTTGTGTGGCTGAGGGCAGGATGGCAGATGCAAGCCCAAGGCTGCAAACTGTTAAGTTTCAGCTCTAGAGAGAAAGGAGAGGTGCTCCATGCTGGCAAGCACCTGGCAGTGGGGATGGGTGTGGAATGTTCCAGAGACTGGAGGAAGGGATGGAAACAGTTCTAAGGCGGACAGATGTCCATGTAGCCCAGGTTGCCAGGCCCCAGGGAACCCCTGCAGATGTGGCCCCAGCTGTCCCTGCTCTGCTCATATCCTGGGACCCTTCCCATCCTCCATCACCCACCGCTGCTCCTGTTCTGTCCCCAGGGCCCCCCGGGAGAGGTCATCCAGCCCCTGCCAATCCAGGCATCCAGGACGCGGCGGAACATCGACGCCAGCCAGCTGCTGGACGACGGGAATGGCGAGAACTACGTGGACTACGCGGACGGCATGGAAGAGATCTTCGGCTCTCTCAACTCTCTGAAGCTGGAGATTGAGCAGATGAAACGGCCCCTGGGCACGCAGCAGAACCCCGCCCGCACCTGCAAGGACCTGCAGCTCTGCCACCCCGACTTCCCAGATGGTGAGGGCCTGGGGGGGCAGGGGTGGCCCCCCAAAGCGGGCATGGACCTGCAGGACACATGGAGTGTGGCAAGGACAGTTCAGCCAGGCACAGCGGAAGGGACAGGACGGGCAGCCGCAGCCTCCCCATCTGTGGGGCCGGGGTGCGCAAGAGCCTCCCCTCTTGAACTTTATGGAGGCATCTCAGGGTGAGGCCGGGTGCAGAGGCCAAGGCTTTGAGGTCAGACTCTCCAGGTTCTCATCTGGTCTTAGGCATTTTCTGGCGGGGTGACCTGCTTGAACCTCGTGTTCCTGACCTGTCAAATGGGAACAGAAACATCTCCCAGGAAGAGGACAGAGTTGCGTGAGGCAGTGCCTGAGAGGCTGGCACAGTGCCAGTGGAAGTAAGGGTCAGTGTTAGGACCGGCAGCAGACGCTGTGCTTGGGCAAACGGCCTTCAAACTCCGCGATACTGTAAAAACACATCCTTCTCCTCACCATCATAGCCTCAGGCACCAATTGAAGGATAAATTCCCATTAGCTTTTCTTCCCCCTGGGAAGTTTGAATGTTCCCCCTGCAAGATTCGAGGGATGTTCATGGTTCCAGTAGACTCTGATCCTACATGCATGAATTTCCAGAGTTCCTTCCAGAACCCTCTCTGCATTTCTGTCCACCCAGAGAGTAGGCCGGACCCCAACCCTCCTGGCCACCAGAACACGTACCCAGTTGCTTCATGCACCAGCTGTGTTCTTGGTGAATGAGTTTGTCCACATCTCTTTATGGGCCCAGCAGGAGAAGCAAAATGCAATAAAGTAAACCCCAGAAAGGCCCGTGTTGGCGGCATTCCTGGGGCGTGCATTTTAACTGCTGGACTGAAATGTCACAGCGGCTTCCGGAACCATCCAGGGAGCAATCCTTCTGACTCTGCCTGCCTCCCTCCCCGTCTCTGAAATCCAGGTGAATACTGGGTCGATCCTAACCAAGGATGCTCCAGGGATTCCTTCAAGGTTTACTGCAACTTCACAGCCGGGGGGTCGACATGCGTCTTCCCTGACAAGAAGTCCGAAGGGGTGAGTAGCTGTGTCCCTCCATGGCCCCAGCGGGGCAGGCGTCACAGACAGGGCCATGCCGAGGGCTTCAAGCATTTCTTGTATATGCAGCTTTAAGACTGAAAGCCAGAAATGAATCCGTTTCATCAGTGAAACTGTTCTTTCAGAAGTAGACCTGAAATTGTTTTAAGAAATTTTTTAGTAATAAAATAGGTTTGTGCAGCCCGGGGTCAGGAAGGGTTGGAGGGCTTTCCACCTGGCATCCTGCCGTCCCAGGGCTGGGACTTCACTCACTGGTTGATAAAAGCTTTTCTCCGGTGACTCAGTGGTCCCACTGACCTGAGACCCCCATTAAAACCCTTTAAAGGAATTGGGAGCAGGTACAATAACGTGAGCCTGAGACATCTTCCGGAAGCTGCCCTTTGCCTCAATTCTTATTATCCAGCCTGTTTCTGTGGGTTGGCCCTGGTCCCTCCTGAGTGCTTTGTTTTGAAGTCTGTTTAGTGAAGAATTCGGGGTGGGGAGCTGGGCTCTGTTGAGATTTTGTGGCATGTCACTTAAATACCCACCTCTGTGGCCTTTCGGAGGCCTCAGCGCTGTAGCAGGAGTTTGTGTGCATGTGGATGGTGTGTGGGCACATGTGGATGAGTGTGTGGATGGGTGTGTGAATGGTGTGTGTGTGTGTGTAGATGCTGTGTGGTTTTGTAGTTGGGGTGTATGTGGATGGTGTGTGTGTAGATGGCATGTGGATGATGTN | benign | 154,416 |
A genetic alteration at chromosome 9, position 134824865, in gene COL5A1—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | GAGCACCAGCCAGGCCCCGACCCTCCTCCCACTCTAGCCGGGCAAATACAAGCATAGACTCTTGAGGGGGATGCGGGTGGGAGAGGGGCGAGGGGCGAGACCAGGCTGGGCAGGACATGGAGCACGGTGGGGCTGGAGCTGAGACCCGGCTTGCTGACGTTCTGCCCTCCTCTCTCTGCAGGGTCCGCCTGGTCCAAAAGGTGCTAAGGGCTCCTCGGTAAGTAACATGCTGCCCAGCCAGGCCAATGCCTGGAAGGTAGGGGAGGGCGACGGGTCCCCTGGCACGGGAACAAACTACCCAGACAACCGTCCTAGCTCAGGCCCTGCTGCTCACGATCCTCCCATCTTTCTACACTGACCCATGGCGGACTGAGGCAGGTGGGCTGCTCGCCGCCTGCCCTAGGAAGGGCTCCATCCCTCTCTGTTCTCATCTCAAGGATCCAGGAGGGTACAGGGGTCTCTGCCATTCTCTTCTCTGCTGTGGCTGATAGGGCCACCTCCCCCACATAGGTCTCCAGGGACCATTCTAGAGCTGAAGGTGGATTCAAAGTCCCCTCATACCTCTGTGACCAAGGGTTGATTCTTTTCTTTCTCCCCAGGGTCCAACTGGCCCGAAGGGTGAGGCAGGCCACCCAGGACCCCCAGGCCCCCCGGTAAGTAGCCCTTGAAGCCCAGAAAGCGGGACGGGGGCTCTGGCTAGCTCCGAGGGAATTGAGAAAGCAACTGTGTGTGTGTGACCCCTCCTGAGACTCATGAAGCCCATGTGGCATGCCCGGGCCTTGTCCCTCGCACGCAGCCGGGGAAATGAGCCACACAGGTCTATCACAGGAAGCTTACAGGCCAATTGGCCCTGAGAAGAACAGCTGGCCAGGAGAGAGAGGATACACGTGTGTGCTGTGTGTGCATGCATGGTATATGAATGTGTGAACGTGTAGTATATGCGTGTATGTGACTGGGCACGTGTGTGTGCATGTCTGTATGTGTACGTGCATCCTGTATATGTGCATGCATGTGTAATGTGTGTGTACATGGTTTGTATGTGCATGTGTGTGTGCATGATGTGTGTATGGGTATGCATGCATATATGTGGGGCACATATGTGTGTGCATGTGTAGTGTGTGTATATTGTATACGTGCATGCATGGCCGTGTGTGTGTGCATATGTATATGTGTACATGCATGTCTGGGATATATGTGCATGTGTGTGTGTGTGTTGGGATGGGGGAGCACTAGACAAGGCCCTGGAGGTGAAAGGTGAAGCCCAGTTTGAACCAGGGCATGGCGAGTGCACTATTGGACACCCCCCTTTGGTTGTGGAGTCTCTCCAACTCCCATCGTCATCTTAGCTGTGGCCTTCTGGAAGTGAATGGCTCTTTGCATCAGGAGGCATTCATGTGGCCCCACTGTGTTCAGCCCCAGCTAGGGCTGCAGAGGCCAGACTGGGGAGACCTGGTCCCTTTCCTCAAGGCTTGGCCTTTTGTGTGGCTGAGGGCAGGATGGCAGATGCAAGCCCAAGGCTGCAAACTGTTAAGTTTCAGCTCTAGAGAGAAAGGAGAGGTGCTCCATGCTGGCAAGCACCTGGCAGTGGGGATGGGTGTGGAATGTTCCAGAGACTGGAGGAAGGGATGGAAACAGTTCTAAGGCGGACAGATGTCCATGTAGCCCAGGTTGCCAGGCCCCAGGGAACCCCTGCAGATGTGGCCCCAGCTGTCCCTGCTCTGCTCATATCCTGGGACCCTTCCCATCCTCCATCACCCACCGCTGCTCCTGTTCTGTCCCCCAGGGCCCCCCGGGAGAGGTCATCCAGCCCCTGCCAATCCAGGCATCCAGGACGCGGCGGAACATCGACGCCAGCCAGCTGCTGGACGACGGGAATGGCGAGAACTACGTGGACTACGCGGACGGCATGGAAGAGATCTTCGGCTCTCTCAACTCTCTGAAGCTGGAGATTGAGCAGATGAAACGGCCCCTGGGCACGCAGCAGAACCCCGCCCGCACCTGCAAGGACCTGCAGCTCTGCCACCCCGACTTCCCAGATGGTGAGGGCCTGGGGGGGCAGGGGTGGCCCCCCAAAGCGGGCATGGACCTGCAGGACACATGGAGTGTGGCAAGGACAGTTCAGCCAGGCACAGCGGAAGGGACAGGACGGGCAGCCGCAGCCTCCCCATCTGTGGGGCCGGGGTGCGCAAGAGCCTCCCCTCTTGAACTTTATGGAGGCATCTCAGGGTGAGGCCGGGTGCAGAGGCCAAGGCTTTGAGGTCAGACTCTCCAGGTTCTCATCTGGTCTTAGGCATTTTCTGGCGGGGTGACCTGCTTGAACCTCGTGTTCCTGACCTGTCAAATGGGAACAGAAACATCTCCCAGGAAGAGGACAGAGTTGCGTGAGGCAGTGCCTGAGAGGCTGGCACAGTGCCAGTGGAAGTAAGGGTCAGTGTTAGGACCGGCAGCAGACGCTGTGCTTGGGCAAACGGCCTTCAAACTCCGCGATACTGTAAAAACACATCCTTCTCCTCACCATCATAGCCTCAGGCACCAATTGAAGGATAAATTCCCATTAGCTTTTCTTCCCCCTGGGAAGTTTGAATGTTCCCCCTGCAAGATTCGAGGGATGTTCATGGTTCCAGTAGACTCTGATCCTACATGCATGAATTTCCAGAGTTCCTTCCAGAACCCTCTCTGCATTTCTGTCCACCCAGAGAGTAGGCCGGACCCCAACCCTCCTGGCCACCAGAACACGTACCCAGTTGCTTCATGCACCAGCTGTGTTCTTGGTGAATGAGTTTGTCCACATCTCTTTATGGGCCCAGCAGGAGAAGCAAAATGCAATAAAGTAAACCCCAGAAAGGCCCGTGTTGGCGGCATTCCTGGGGCGTGCATTTTAACTGCTGGACTGAAATGTCACAGCGGCTTCCGGAACCATCCAGGGAGCAATCCTTCTGACTCTGCCTGCCTCCCTCCCCGTCTCTGAAATCCAGGTGAATACTGGGTCGATCCTAACCAAGGATGCTCCAGGGATTCCTTCAAGGTTTACTGCAACTTCACAGCCGGGGGGTCGACATGCGTCTTCCCTGACAAGAAGTCCGAAGGGGTGAGTAGCTGTGTCCCTCCATGGCCCCAGCGGGGCAGGCGTCACAGACAGGGCCATGCCGAGGGCTTCAAGCATTTCTTGTATATGCAGCTTTAAGACTGAAAGCCAGAAATGAATCCGTTTCATCAGTGAAACTGTTCTTTCAGAAGTAGACCTGAAATTGTTTTAAGAAATTTTTTAGTAATAAAATAGGTTTGTGCAGCCCGGGGTCAGGAAGGGTTGGAGGGCTTTCCACCTGGCATCCTGCCGTCCCAGGGCTGGGACTTCACTCACTGGTTGATAAAAGCTTTTCTCCGGTGACTCAGTGGTCCCACTGACCTGAGACCCCCATTAAAACCCTTTAAAGGAATTGGGAGCAGGTACAATAACGTGAGCCTGAGACATCTTCCGGAAGCTGCCCTTTGCCTCAATTCTTATTATCCAGCCTGTTTCTGTGGGTTGGCCCTGGTCCCTCCTGAGTGCTTTGTTTTGAAGTCTGTTTAGTGAAGAATTCGGGGTGGGGAGCTGGGCTCTGTTGAGATTTTGTGGCATGTCACTTAAATACCCACCTCTGTGGCCTTTCGGAGGCCTCAGCGCTGTAGCAGGAGTTTGTGTGCATGTGGATGGTGTGTGGGCACATGTGGATGAGTGTGTGGATGGGTGTGTGAATGGTGTGTGTGTGTGTGTAGATGCTGTGTGGTTTTGTAGTTGGGGTGTATGTGGATGGTGTGTGTGTAGATGGCATGTGGATGATGTGTGGGTGCATGTGGCTGGTGGATGGGTGTGTGTATGGGTGGTGGATGGGTGCGTGTGGCTGGTATGTGGGGGTGTGTGGGTGGTGTGTGGGTGTGTACATGGTGTTCGGGTGTGTGTGGCTGGTGTGTGGGTGTGTAGATGGTGTTTGGGTACTTGTGGCTGGTGCAGGTGTGTGGGTGTGTGGCTGGTGTGTGGATGTGTATATGGTGTGTGGGTGTGTGTGGCTGGTGTATGTGGGTGCATGTGGCTGGCATGTGCATGCATGTAGACGGG | GAGCACCAGCCAGGCCCCGACCCTCCTCCCACTCTAGCCGGGCAAATACAAGCATAGACTCTTGAGGGGGATGCGGGTGGGAGAGGGGCGAGGGGCGAGACCAGGCTGGGCAGGACATGGAGCACGGTGGGGCTGGAGCTGAGACCCGGCTTGCTGACGTTCTGCCCTCCTCTCTCTGCAGGGTCCGCCTGGTCCAAAAGGTGCTAAGGGCTCCTCGGTAAGTAACATGCTGCCCAGCCAGGCCAATGCCTGGAAGGTAGGGGAGGGCGACGGGTCCCCTGGCACGGGAACAAACTACCCAGACAACCGTCCTAGCTCAGGCCCTGCTGCTCACGATCCTCCCATCTTTCTACACTGACCCATGGCGGACTGAGGCAGGTGGGCTGCTCGCCGCCTGCCCTAGGAAGGGCTCCATCCCTCTCTGTTCTCATCTCAAGGATCCAGGAGGGTACAGGGGTCTCTGCCATTCTCTTCTCTGCTGTGGCTGATAGGGCCACCTCCCCCACATAGGTCTCCAGGGACCATTCTAGAGCTGAAGGTGGATTCAAAGTCCCCTCATACCTCTGTGACCAAGGGTTGATTCTTTTCTTTCTCCCCAGGGTCCAACTGGCCCGAAGGGTGAGGCAGGCCACCCAGGACCCCCAGGCCCCCCGGTAAGTAGCCCTTGAAGCCCAGAAAGCGGGACGGGGGCTCTGGCTAGCTCCGAGGGAATTGAGAAAGCAACTGTGTGTGTGTGACCCCTCCTGAGACTCATGAAGCCCATGTGGCATGCCCGGGCCTTGTCCCTCGCACGCAGCCGGGGAAATGAGCCACACAGGTCTATCACAGGAAGCTTACAGGCCAATTGGCCCTGAGAAGAACAGCTGGCCAGGAGAGAGAGGATACACGTGTGTGCTGTGTGTGCATGCATGGTATATGAATGTGTGAACGTGTAGTATATGCGTGTATGTGACTGGGCACGTGTGTGTGCATGTCTGTATGTGTACGTGCATCCTGTATATGTGCATGCATGTGTAATGTGTGTGTACATGGTTTGTATGTGCATGTGTGTGTGCATGATGTGTGTATGGGTATGCATGCATATATGTGGGGCACATATGTGTGTGCATGTGTAGTGTGTGTATATTGTATACGTGCATGCATGGCCGTGTGTGTGTGCATATGTATATGTGTACATGCATGTCTGGGATATATGTGCATGTGTGTGTGTGTGTTGGGATGGGGGAGCACTAGACAAGGCCCTGGAGGTGAAAGGTGAAGCCCAGTTTGAACCAGGGCATGGCGAGTGCACTATTGGACACCCCCCTTTGGTTGTGGAGTCTCTCCAACTCCCATCGTCATCTTAGCTGTGGCCTTCTGGAAGTGAATGGCTCTTTGCATCAGGAGGCATTCATGTGGCCCCACTGTGTTCAGCCCCAGCTAGGGCTGCAGAGGCCAGACTGGGGAGACCTGGTCCCTTTCCTCAAGGCTTGGCCTTTTGTGTGGCTGAGGGCAGGATGGCAGATGCAAGCCCAAGGCTGCAAACTGTTAAGTTTCAGCTCTAGAGAGAAAGGAGAGGTGCTCCATGCTGGCAAGCACCTGGCAGTGGGGATGGGTGTGGAATGTTCCAGAGACTGGAGGAAGGGATGGAAACAGTTCTAAGGCGGACAGATGTCCATGTAGCCCAGGTTGCCAGGCCCCAGGGAACCCCTGCAGATGTGGCCCCAGCTGTCCCTGCTCTGCTCATATCCTGGGACCCTTCCCATCCTCCATCACCCACCGCTGCTCCTGTTCTGTCCCCCAGGGCCCCCCGGGAGAGGTCATCCAGCCCCTGCCAATCCAGGCATCCAGGACGCGGCGGAACATCGACGCCAGCCAGCTGCTGGACGACGGGAATGGCGAGAACTACGTGGACTACGCGGACGGCATGGAAGAGATCTTCGGCTCTCTCAACTCTCTGAAGCTGGAGATTGAGCAGATGAAACGGCCCCTGGGCACGCAGCAGAACCCCGCCCGCACCTGCAAGGACCTGCAGCTCTGCCACCCCGACTTCCCAGATGGTGAGGGCCTGGGGGGGGCAGGGGTGGCCCCCCAAAGCGGGCATGGACCTGCAGGACACATGGAGTGTGGCAAGGACAGTTCAGCCAGGCACAGCGGAAGGGACAGGACGGGCAGCCGCAGCCTCCCCATCTGTGGGGCCGGGGTGCGCAAGAGCCTCCCCTCTTGAACTTTATGGAGGCATCTCAGGGTGAGGCCGGGTGCAGAGGCCAAGGCTTTGAGGTCAGACTCTCCAGGTTCTCATCTGGTCTTAGGCATTTTCTGGCGGGGTGACCTGCTTGAACCTCGTGTTCCTGACCTGTCAAATGGGAACAGAAACATCTCCCAGGAAGAGGACAGAGTTGCGTGAGGCAGTGCCTGAGAGGCTGGCACAGTGCCAGTGGAAGTAAGGGTCAGTGTTAGGACCGGCAGCAGACGCTGTGCTTGGGCAAACGGCCTTCAAACTCCGCGATACTGTAAAAACACATCCTTCTCCTCACCATCATAGCCTCAGGCACCAATTGAAGGATAAATTCCCATTAGCTTTTCTTCCCCCTGGGAAGTTTGAATGTTCCCCCTGCAAGATTCGAGGGATGTTCATGGTTCCAGTAGACTCTGATCCTACATGCATGAATTTCCAGAGTTCCTTCCAGAACCCTCTCTGCATTTCTGTCCACCCAGAGAGTAGGCCGGACCCCAACCCTCCTGGCCACCAGAACACGTACCCAGTTGCTTCATGCACCAGCTGTGTTCTTGGTGAATGAGTTTGTCCACATCTCTTTATGGGCCCAGCAGGAGAAGCAAAATGCAATAAAGTAAACCCCAGAAAGGCCCGTGTTGGCGGCATTCCTGGGGCGTGCATTTTAACTGCTGGACTGAAATGTCACAGCGGCTTCCGGAACCATCCAGGGAGCAATCCTTCTGACTCTGCCTGCCTCCCTCCCCGTCTCTGAAATCCAGGTGAATACTGGGTCGATCCTAACCAAGGATGCTCCAGGGATTCCTTCAAGGTTTACTGCAACTTCACAGCCGGGGGGTCGACATGCGTCTTCCCTGACAAGAAGTCCGAAGGGGTGAGTAGCTGTGTCCCTCCATGGCCCCAGCGGGGCAGGCGTCACAGACAGGGCCATGCCGAGGGCTTCAAGCATTTCTTGTATATGCAGCTTTAAGACTGAAAGCCAGAAATGAATCCGTTTCATCAGTGAAACTGTTCTTTCAGAAGTAGACCTGAAATTGTTTTAAGAAATTTTTTAGTAATAAAATAGGTTTGTGCAGCCCGGGGTCAGGAAGGGTTGGAGGGCTTTCCACCTGGCATCCTGCCGTCCCAGGGCTGGGACTTCACTCACTGGTTGATAAAAGCTTTTCTCCGGTGACTCAGTGGTCCCACTGACCTGAGACCCCCATTAAAACCCTTTAAAGGAATTGGGAGCAGGTACAATAACGTGAGCCTGAGACATCTTCCGGAAGCTGCCCTTTGCCTCAATTCTTATTATCCAGCCTGTTTCTGTGGGTTGGCCCTGGTCCCTCCTGAGTGCTTTGTTTTGAAGTCTGTTTAGTGAAGAATTCGGGGTGGGGAGCTGGGCTCTGTTGAGATTTTGTGGCATGTCACTTAAATACCCACCTCTGTGGCCTTTCGGAGGCCTCAGCGCTGTAGCAGGAGTTTGTGTGCATGTGGATGGTGTGTGGGCACATGTGGATGAGTGTGTGGATGGGTGTGTGAATGGTGTGTGTGTGTGTGTAGATGCTGTGTGGTTTTGTAGTTGGGGTGTATGTGGATGGTGTGTGTGTAGATGGCATGTGGATGATGTGTGGGTGCATGTGGCTGGTGGATGGGTGTGTGTATGGGTGGTGGATGGGTGCGTGTGGCTGGTATGTGGGGGTGTGTGGGTGGTGTGTGGGTGTGTACATGGTGTTCGGGTGTGTGTGGCTGGTGTGTGGGTGTGTAGATGGTGTTTGGGTACTTGTGGCTGGTGCAGGTGTGTGGGTGTGTGGCTGGTGTGTGGATGTGTATATGGTGTGTGGGTGTGTGTGGCTGGTGTATGTGGGTGCATGTGGCTGGCATGTGCATGCATGTAGACGG | benign | 154,436 |
Does the variant on chromosome 9 at location 134825862 affecting gene COL5A1 have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Ehlers-Danlos_syndrome', 'Familial_thoracic_aortic_aneurysm_and_aortic_dissection'] | ATATGTGCATGCATGTGTAATGTGTGTGTACATGGTTTGTATGTGCATGTGTGTGTGCATGATGTGTGTATGGGTATGCATGCATATATGTGGGGCACATATGTGTGTGCATGTGTAGTGTGTGTATATTGTATACGTGCATGCATGGCCGTGTGTGTGTGCATATGTATATGTGTACATGCATGTCTGGGATATATGTGCATGTGTGTGTGTGTGTTGGGATGGGGGAGCACTAGACAAGGCCCTGGAGGTGAAAGGTGAAGCCCAGTTTGAACCAGGGCATGGCGAGTGCACTATTGGACACCCCCCTTTGGTTGTGGAGTCTCTCCAACTCCCATCGTCATCTTAGCTGTGGCCTTCTGGAAGTGAATGGCTCTTTGCATCAGGAGGCATTCATGTGGCCCCACTGTGTTCAGCCCCAGCTAGGGCTGCAGAGGCCAGACTGGGGAGACCTGGTCCCTTTCCTCAAGGCTTGGCCTTTTGTGTGGCTGAGGGCAGGATGGCAGATGCAAGCCCAAGGCTGCAAACTGTTAAGTTTCAGCTCTAGAGAGAAAGGAGAGGTGCTCCATGCTGGCAAGCACCTGGCAGTGGGGATGGGTGTGGAATGTTCCAGAGACTGGAGGAAGGGATGGAAACAGTTCTAAGGCGGACAGATGTCCATGTAGCCCAGGTTGCCAGGCCCCAGGGAACCCCTGCAGATGTGGCCCCAGCTGTCCCTGCTCTGCTCATATCCTGGGACCCTTCCCATCCTCCATCACCCACCGCTGCTCCTGTTCTGTCCCCCAGGGCCCCCCGGGAGAGGTCATCCAGCCCCTGCCAATCCAGGCATCCAGGACGCGGCGGAACATCGACGCCAGCCAGCTGCTGGACGACGGGAATGGCGAGAACTACGTGGACTACGCGGACGGCATGGAAGAGATCTTCGGCTCTCTCAACTCTCTGAAGCTGGAGATTGAGCAGATGAAACGGCCCCTGGGCACGCAGCAGAACCCCGCCCGCACCTGCAAGGACCTGCAGCTCTGCCACCCCGACTTCCCAGATGGTGAGGGCCTGGGGGGGCAGGGGTGGCCCCCCAAAGCGGGCATGGACCTGCAGGACACATGGAGTGTGGCAAGGACAGTTCAGCCAGGCACAGCGGAAGGGACAGGACGGGCAGCCGCAGCCTCCCCATCTGTGGGGCCGGGGTGCGCAAGAGCCTCCCCTCTTGAACTTTATGGAGGCATCTCAGGGTGAGGCCGGGTGCAGAGGCCAAGGCTTTGAGGTCAGACTCTCCAGGTTCTCATCTGGTCTTAGGCATTTTCTGGCGGGGTGACCTGCTTGAACCTCGTGTTCCTGACCTGTCAAATGGGAACAGAAACATCTCCCAGGAAGAGGACAGAGTTGCGTGAGGCAGTGCCTGAGAGGCTGGCACAGTGCCAGTGGAAGTAAGGGTCAGTGTTAGGACCGGCAGCAGACGCTGTGCTTGGGCAAACGGCCTTCAAACTCCGCGATACTGTAAAAACACATCCTTCTCCTCACCATCATAGCCTCAGGCACCAATTGAAGGATAAATTCCCATTAGCTTTTCTTCCCCCTGGGAAGTTTGAATGTTCCCCCTGCAAGATTCGAGGGATGTTCATGGTTCCAGTAGACTCTGATCCTACATGCATGAATTTCCAGAGTTCCTTCCAGAACCCTCTCTGCATTTCTGTCCACCCAGAGAGTAGGCCGGACCCCAACCCTCCTGGCCACCAGAACACGTACCCAGTTGCTTCATGCACCAGCTGTGTTCTTGGTGAATGAGTTTGTCCACATCTCTTTATGGGCCCAGCAGGAGAAGCAAAATGCAATAAAGTAAACCCCAGAAAGGCCCGTGTTGGCGGCATTCCTGGGGCGTGCATTTTAACTGCTGGACTGAAATGTCACAGCGGCTTCCGGAACCATCCAGGGAGCAATCCTTCTGACTCTGCCTGCCTCCCTCCCCGTCTCTGAAATCCAGGTGAATACTGGGTCGATCCTAACCAAGGATGCTCCAGGGATTCCTTCAAGGTTTACTGCAACTTCACAGCCGGGGGGTCGACATGCGTCTTCCCTGACAAGAAGTCCGAAGGGGTGAGTAGCTGTGTCCCTCCATGGCCCCAGCGGGGCAGGCGTCACAGACAGGGCCATGCCGAGGGCTTCAAGCATTTCTTGTATATGCAGCTTTAAGACTGAAAGCCAGAAATGAATCCGTTTCATCAGTGAAACTGTTCTTTCAGAAGTAGACCTGAAATTGTTTTAAGAAATTTTTTAGTAATAAAATAGGTTTGTGCAGCCCGGGGTCAGGAAGGGTTGGAGGGCTTTCCACCTGGCATCCTGCCGTCCCAGGGCTGGGACTTCACTCACTGGTTGATAAAAGCTTTTCTCCGGTGACTCAGTGGTCCCACTGACCTGAGACCCCCATTAAAACCCTTTAAAGGAATTGGGAGCAGGTACAATAACGTGAGCCTGAGACATCTTCCGGAAGCTGCCCTTTGCCTCAATTCTTATTATCCAGCCTGTTTCTGTGGGTTGGCCCTGGTCCCTCCTGAGTGCTTTGTTTTGAAGTCTGTTTAGTGAAGAATTCGGGGTGGGGAGCTGGGCTCTGTTGAGATTTTGTGGCATGTCACTTAAATACCCACCTCTGTGGCCTTTCGGAGGCCTCAGCGCTGTAGCAGGAGTTTGTGTGCATGTGGATGGTGTGTGGGCACATGTGGATGAGTGTGTGGATGGGTGTGTGAATGGTGTGTGTGTGTGTGTAGATGCTGTGTGGTTTTGTAGTTGGGGTGTATGTGGATGGTGTGTGTGTAGATGGCATGTGGATGATGTGTGGGTGCATGTGGCTGGTGGATGGGTGTGTGTATGGGTGGTGGATGGGTGCGTGTGGCTGGTATGTGGGGGTGTGTGGGTGGTGTGTGGGTGTGTACATGGTGTTCGGGTGTGTGTGGCTGGTGTGTGGGTGTGTAGATGGTGTTTGGGTACTTGTGGCTGGTGCAGGTGTGTGGGTGTGTGGCTGGTGTGTGGATGTGTATATGGTGTGTGGGTGTGTGTGGCTGGTGTATGTGGGTGCATGTGGCTGGCATGTGCATGCATGTAGACGGGCGTGTGTTGCTATCCCTCAAGCATGCACCTGAGGCAGGTCCAGCCTTGGCCCAGGCGAGGACTGAGTCTCCCTGTTGCTCCTGGAAGGTGACCAAGCCTGCAGCTCTCGTGCCCCTGCATCAGCTTGAACGGCCTCTCCTTCATGAGCTCGCAGTTGTCGCGTGGCCCCAGGCAAAGGCCGCCCATTTCTGGGGCCGCAGCGGTTTGCTGTGCAGGTCCAGACCTGTGCGCCCCTGCAGCCTCTGCTTCCTAACAACCTCAGTGCCCCAGAAGCAGTTTCCTGCCAGGGGAAGAGCAGCTACGTTCTCCCCAGGGACCGCCATCCCCTTACCCCTCAATCACGCCCTGACCGTGCTGAGCTCAGTAGCCACTTTGGGTTAGGAGCCCACTGGCTGCAGTGGAGGCTGCACATGGCTGGAGATCTGTGGGGCTCCAAGTGCAGGGGTCCCCTCCCCCACCTGAAGTTTTAACTCCTTGAGAACCTGCCTTCCTAGTGACAAACCCTGTTCAGAGAGAATCCAAACACGGGGGCCTTCCATCTCGGCTCTCGTTTCCCTCAGTCTGGCCAGAGGCCCCGCGTGGAATTCCCTTAGAAAAGAGGTTTCTCGGCCCTCCTTCGCGGCCTGCCTCTGCAAATGGGTGGCCTTGCCGCTGTGGAAATCACGGGCCAGACTCCTCCAAACTCAGAGGTTTCCTGGGAAGCCGCGGCTGGTGTTCACGGCACAGCAGCGTGGGGCTGCTGAGCGACCCCAGGCTCCCCCAGTGTTGACCAGCCAGGCGTCCACAGGCTGCAGCCTCGGGCCTGGGCTACAGCTGCTTGGCCAAGGGCAAGTGGAGACGCTTTCCGAGGTGGCCCCCTTGGACCCGGAGGAGGCTCACAGCAGAGGCTGGGGGAGCCCGCGCTTGCCCACATCCCGGGACTCTTCCAGGAAGAAGCTGCCTTCACGCCGCCTGGGCTTGGCATTGACAGTGGCAGATTTGGAAACGAGAGAGGGTG | ATATGTGCATGCATGTGTAATGTGTGTGTACATGGTTTGTATGTGCATGTGTGTGTGCATGATGTGTGTATGGGTATGCATGCATATATGTGGGGCACATATGTGTGTGCATGTGTAGTGTGTGTATATTGTATACGTGCATGCATGGCCGTGTGTGTGTGCATATGTATATGTGTACATGCATGTCTGGGATATATGTGCATGTGTGTGTGTGTGTTGGGATGGGGGAGCACTAGACAAGGCCCTGGAGGTGAAAGGTGAAGCCCAGTTTGAACCAGGGCATGGCGAGTGCACTATTGGACACCCCCCTTTGGTTGTGGAGTCTCTCCAACTCCCATCGTCATCTTAGCTGTGGCCTTCTGGAAGTGAATGGCTCTTTGCATCAGGAGGCATTCATGTGGCCCCACTGTGTTCAGCCCCAGCTAGGGCTGCAGAGGCCAGACTGGGGAGACCTGGTCCCTTTCCTCAAGGCTTGGCCTTTTGTGTGGCTGAGGGCAGGATGGCAGATGCAAGCCCAAGGCTGCAAACTGTTAAGTTTCAGCTCTAGAGAGAAAGGAGAGGTGCTCCATGCTGGCAAGCACCTGGCAGTGGGGATGGGTGTGGAATGTTCCAGAGACTGGAGGAAGGGATGGAAACAGTTCTAAGGCGGACAGATGTCCATGTAGCCCAGGTTGCCAGGCCCCAGGGAACCCCTGCAGATGTGGCCCCAGCTGTCCCTGCTCTGCTCATATCCTGGGACCCTTCCCATCCTCCATCACCCACCGCTGCTCCTGTTCTGTCCCCCAGGGCCCCCCGGGAGAGGTCATCCAGCCCCTGCCAATCCAGGCATCCAGGACGCGGCGGAACATCGACGCCAGCCAGCTGCTGGACGACGGGAATGGCGAGAACTACGTGGACTACGCGGACGGCATGGAAGAGATCTTCGGCTCTCTCAACTCTCTGAAGCTGGAGATTGAGCAGATGAAACGGCCCCTGGGCACGCAGCAGAACCCCGCCCGCACCTGCAAGGACCTGCAGCTCTGCCACCCCGACTTCCCAGATGGTGAGGGCCTGGGGGGGCAGGGGTGGCCCCCCAAAGCGGGCATGGACCTGCAGGACACATGGAGTGTGGCAAGGACAGTTCAGCCAGGCACAGCGGAAGGGACAGGACGGGCAGCCGCAGCCTCCCCATCTGTGGGGCCGGGGTGCGCAAGAGCCTCCCCTCTTGAACTTTATGGAGGCATCTCAGGGTGAGGCCGGGTGCAGAGGCCAAGGCTTTGAGGTCAGACTCTCCAGGTTCTCATCTGGTCTTAGGCATTTTCTGGCGGGGTGACCTGCTTGAACCTCGTGTTCCTGACCTGTCAAATGGGAACAGAAACATCTCCCAGGAAGAGGACAGAGTTGCGTGAGGCAGTGCCTGAGAGGCTGGCACAGTGCCAGTGGAAGTAAGGGTCAGTGTTAGGACCGGCAGCAGACGCTGTGCTTGGGCAAACGGCCTTCAAACTCCGCGATACTGTAAAAACACATCCTTCTCCTCACCATCATAGCCTCAGGCACCAATTGAAGGATAAATTCCCATTAGCTTTTCTTCCCCCTGGGAAGTTTGAATGTTCCCCCTGCAAGATTCGAGGGATGTTCATGGTTCCAGTAGACTCTGATCCTACATGCATGAATTTCCAGAGTTCCTTCCAGAACCCTCTCTGCATTTCTGTCCACCCAGAGAGTAGGCCGGACCCCAACCCTCCTGGCCACCAGAACACGTACCCAGTTGCTTCATGCACCAGCTGTGTTCTTGGTGAATGAGTTTGTCCACATCTCTTTATGGGCCCAGCAGGAGAAGCAAAATGCAATAAAGTAAACCCCAGAAAGGCCCGTGTTGGCGGCATTCCTGGGGCGTGCATTTTAACTGCTGGACTGAAATGTCACAGCGGCTTCCGGAACCATCCAGGGAGCAATCCTTCTGACTCTGCCTGCCTCCCTCCCCGTCTCTGAAATCCAGGTGAATACTGGGTCGATCCTAACCAAGGATGCTCCAGGGATTCCTTCAAGGTTTACTGCAACTTCACAGCCGGGGGTCGACATGCGTCTTCCCTGACAAGAAGTCCGAAGGGGTGAGTAGCTGTGTCCCTCCATGGCCCCAGCGGGGCAGGCGTCACAGACAGGGCCATGCCGAGGGCTTCAAGCATTTCTTGTATATGCAGCTTTAAGACTGAAAGCCAGAAATGAATCCGTTTCATCAGTGAAACTGTTCTTTCAGAAGTAGACCTGAAATTGTTTTAAGAAATTTTTTAGTAATAAAATAGGTTTGTGCAGCCCGGGGTCAGGAAGGGTTGGAGGGCTTTCCACCTGGCATCCTGCCGTCCCAGGGCTGGGACTTCACTCACTGGTTGATAAAAGCTTTTCTCCGGTGACTCAGTGGTCCCACTGACCTGAGACCCCCATTAAAACCCTTTAAAGGAATTGGGAGCAGGTACAATAACGTGAGCCTGAGACATCTTCCGGAAGCTGCCCTTTGCCTCAATTCTTATTATCCAGCCTGTTTCTGTGGGTTGGCCCTGGTCCCTCCTGAGTGCTTTGTTTTGAAGTCTGTTTAGTGAAGAATTCGGGGTGGGGAGCTGGGCTCTGTTGAGATTTTGTGGCATGTCACTTAAATACCCACCTCTGTGGCCTTTCGGAGGCCTCAGCGCTGTAGCAGGAGTTTGTGTGCATGTGGATGGTGTGTGGGCACATGTGGATGAGTGTGTGGATGGGTGTGTGAATGGTGTGTGTGTGTGTGTAGATGCTGTGTGGTTTTGTAGTTGGGGTGTATGTGGATGGTGTGTGTGTAGATGGCATGTGGATGATGTGTGGGTGCATGTGGCTGGTGGATGGGTGTGTGTATGGGTGGTGGATGGGTGCGTGTGGCTGGTATGTGGGGGTGTGTGGGTGGTGTGTGGGTGTGTACATGGTGTTCGGGTGTGTGTGGCTGGTGTGTGGGTGTGTAGATGGTGTTTGGGTACTTGTGGCTGGTGCAGGTGTGTGGGTGTGTGGCTGGTGTGTGGATGTGTATATGGTGTGTGGGTGTGTGTGGCTGGTGTATGTGGGTGCATGTGGCTGGCATGTGCATGCATGTAGACGGGCGTGTGTTGCTATCCCTCAAGCATGCACCTGAGGCAGGTCCAGCCTTGGCCCAGGCGAGGACTGAGTCTCCCTGTTGCTCCTGGAAGGTGACCAAGCCTGCAGCTCTCGTGCCCCTGCATCAGCTTGAACGGCCTCTCCTTCATGAGCTCGCAGTTGTCGCGTGGCCCCAGGCAAAGGCCGCCCATTTCTGGGGCCGCAGCGGTTTGCTGTGCAGGTCCAGACCTGTGCGCCCCTGCAGCCTCTGCTTCCTAACAACCTCAGTGCCCCAGAAGCAGTTTCCTGCCAGGGGAAGAGCAGCTACGTTCTCCCCAGGGACCGCCATCCCCTTACCCCTCAATCACGCCCTGACCGTGCTGAGCTCAGTAGCCACTTTGGGTTAGGAGCCCACTGGCTGCAGTGGAGGCTGCACATGGCTGGAGATCTGTGGGGCTCCAAGTGCAGGGGTCCCCTCCCCCACCTGAAGTTTTAACTCCTTGAGAACCTGCCTTCCTAGTGACAAACCCTGTTCAGAGAGAATCCAAACACGGGGGCCTTCCATCTCGGCTCTCGTTTCCCTCAGTCTGGCCAGAGGCCCCGCGTGGAATTCCCTTAGAAAAGAGGTTTCTCGGCCCTCCTTCGCGGCCTGCCTCTGCAAATGGGTGGCCTTGCCGCTGTGGAAATCACGGGCCAGACTCCTCCAAACTCAGAGGTTTCCTGGGAAGCCGCGGCTGGTGTTCACGGCACAGCAGCGTGGGGCTGCTGAGCGACCCCAGGCTCCCCCAGTGTTGACCAGCCAGGCGTCCACAGGCTGCAGCCTCGGGCCTGGGCTACAGCTGCTTGGCCAAGGGCAAGTGGAGACGCTTTCCGAGGTGGCCCCCTTGGACCCGGAGGAGGCTCACAGCAGAGGCTGGGGGAGCCCGCGCTTGCCCACATCCCGGGACTCTTCCAGGAAGAAGCTGCCTTCACGCCGCCTGGGCTTGGCATTGACAGTGGCAGATTTGGAAACGAGAGAGGGTGN | pathogenic | 154,449 |
Considering the variant on chromosome 9, location 134835190, involving gene COL5A1, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Ehlers-Danlos_syndrome,_classic_type,_1', 'Fibromuscular_dysplasia,_multifocal'] | CCTGCAGAGAGGGTCCTTCAAGGTCCTGCCTAGGCCAGGAGAGATGTGTGCTTCATTTCGGGGAGCTAAGATGCATCGATGTCCCCTGGAAGTGTCAGGTTTTTCAGAAACCTTGAGTTGGCAACAGAGATGCAAAAGTGAGATGCATCATGGCTCAGGATGCCCTGCACGGGCCTTGCACCTGGTGGAGCTGAGCAGCCCAGTCCTGGATACCCAGCTAGTGATGCTGGAGAGGCCACCTAAGAAGCTGCACATTGTCCTCTGATGCCTTCCCTGGATTTGTGCAGAGACTGGGAGGGCTTTCAGGGAGGATCAGTGTCATCAGAGTCCCGGGCTGACCTTTGGCACAGGCAGGGCAGGCAGATGGAGCCACTCCTGTCTCAGGAAGCCTGCTCACTGCCCTGAGGAGACGCTTCTGGGAAGGGGAGGAGTGGTCTTTCTTGAGTGGCCATGCCAGACATCATCCGGGACCCCTGTGCCTCCAGGAGGATCCCCGGTCACCCCAGCCATCTGCACAGCCCTGACCCTCCCTCAGGCTCGCCTCCCCTGAGCACCTCACTACAGCTGGCCCGCTCACTCCCCGAGGCCTCGTGCCCCGTGGCTCCAGCTGCTCACAGTCTCCCTGGCCAGGGCCTTGTACATCCTGGGCACCCAGCAGATGGTCGTTTGTTCACATAATCTTGTGAGCACCTTCCTTTGCTGGTGTTGGAGCATGATGATAGGGACAGGGGGCCAGAGCTGGAGTGGAGGGACATCGGGAGGGCTGGGATACAGATCAGGGTCCCTAAGCCAGCCCTAGAGGCTGGAGGTGGGGAGGAGCCTTCCCTAGGAGCAGTGGTCTAGGCTGTGACCCAAAGGACAGCAGTGGGGGCACCTCCTGCCAGGTGGGGAGTGTCCCAGGCCGAGGGAGGAGCCGTGCAGTGGCTCAGGGGCAGAAGGAGGACACCTGCTGTCCAGGGCTCAGGGAGAAGTGTGGTGCAGCTGGGAGGGGGCTCTAAGACCTCCTCCTCTCACCCCCAGGGAACCTAATGCCCCTCTCTGGCCCTGCACCCCTCTACTCAGGGGAAACCAGGGCTCGCCTGCTGCTCCAGGTGCCCCGACCCAGCGATCGGGTGCAGAGCTCTGCGTTTCAGGAATGAGAGGCAGGTCTTCATGCAAGCCATATTTTTGAGAATGGTTCTCTGTTCACTCAACACATACAAACCTGGCAGACCCAGATCACCATCTGGGATGGAGGCACCCAGGTGGCAGAAGGGGAGAAGAACTGTGGGTGGACGTGCAGGGAGAGCAGCTGCAGCTGGCACTGCAGTGGGTGCTGGCCCAGGAGACACTGGCTGCCGTTCACCATGCAGCAAAGCTTTATCAAGCGCACACTGGGCAGCCATGGGGCGGGTACCACGGCCAGTAACGAGCAAGAAGGATGCCATCCTGCCCTCTCTGAACTTATAGTCTGCTAGGGAAGACAGACACTGTGACAAACTAAGGTTGGGGAGGGCAGCCACAGAGTAGGTGCAGGAGCATCTATTCTGGGTAGGCTTCCTGGAGGAGGCAGCACAGGTGCCGAGCCCTGAAGGATAAGCATAAGCCAAGAGAAGTGGGTGGATTATTTAAGGCCCTGAAGGACATGAGGCATGGTTCCCTTTGTTCCTGGGAACACGCAAGAGAGCCCATGTGCGCTGGCCTCGGCCGGGTCTGTGGGTACAGTGCGTTTCCAGGTAGTTCCCCCGAGAAGACCACAGTGTGAGTGAAGCCCAGGGCAGTGCGGACGTGGGGCTTTGTTGCTGTGTGTGTCCCCACCCTGCTGAGCCCCAACACCCCTGTCCCCCCAGCTCTCCTATGTGGACGCCGAGGGCAACCCTGTGGGTGTGGTACAGATGACCTTCCTGCGGCTGCTGAGCGCCTCTGCCCACCAGAACGTCACCTACCACTGCTACCAGTCAGTGGCCTGGCAGGACGCAGCCACGGGCAGCTACGACAAGGCCCTCCGCTTCCTGGGCTCCAACGACGAGGAGATGTCCTATGACAACAACCCCTACATCCGCGCCCTGGTGGACGGCTGTGCTGTGAGTATCCCGCGCCGCGCCCAGCACCCCTGCTCACGCCTCCGTGGGGCTCGCTCCTCACTCAGCACGGGTTTACCTGTCCCCAAGATGCCTGCCAGAGGGCAGTGAGGGCCCCGGACCAGACTCTCGCCCCAGGCAGCCCCACAGTTGCAGGGAGACTAGGAATCCCAGGCCTATGCAGCTGGAGCTCCGGGAACTTGGGAGAGTTCTGTGGGTTAGGATGGGAAATCTGAGACCTGGCCGGAAAAGCCAGGGGCGTGGGTCCCTCGCCCCATCCAGGGCTGTGGCGTGGAGTGAGGAATGGAGGACCCGTTGTGGTTCCAGTTTGGAGCTGGGAGCCTCCCTCTCCTTGGACAGGGCTCTTCTGGGAGTGGCCAGAACTAAGCTGGGCCTGTTCCCGAGAGCACGGCCGTCTGGAAACACTGCAGACAGTTGCCAGCTCTCCGGACAGCCCGGCCCATGGGCCCTCTCCATGTGGGGAGAGCTGTTCTGGTCCCAGACAAGGGAATGGAGGCCGGAGCGGCGGGAGGCTTGCTGAGACCTCACGGGCAGTCAGGGCTGGTATTGGCGCTCATACCCATGGGCCTTCCCACATGCACGCCTTTCCCCTCCCTACTCAGTGAGCTGGGCTCACCTCCGCTAAGGTCCCCTTGAGACTGCCAGGGCCATCGCACAGGTCTGGGATGTGCCCGCGTGTCCTGGAGGTGTTTAGGGTGCAGCTGTGCCCCAAGAGCCCAGGCCTGCGGGAGCCTCAGACATGTCCCCCTCGTGTGGCCTTTTAGAGGCTGGAGGTGGGAATCGCTGAGAATTCCAGCCTGTGGGTCTTCCTGTCACTGACATTGGAGCCTGTTCTCTCCACCACTTATTCTTGAGAGACCTGCGGAAAGCAGCCCTTAGCGCCTCGCTCCTTTAGTGTTTGTAGAAAGGCACGCCTGAGGCCGGGTAAACGGGAAGCGGTTTACTCCGCTCCCAGCTCTGCAGGCTGTCCAGGAATCGTTGTGTGGTGCCAGCATCTGCGTCCAGTGATGGCCCCAGGCTGCTTCCAGTCTTGGGAAGGTGAAGGGGCCAGTGTGTGGAATGCACAGGAGAGAGGAAGCGAGGGGGTGCCAGGCCCTTTTTAACAATCAGCTCTCATGGGAACTAGTAGAGTGAGAACTCACTCATTACCCCGAGGGCAGCACCAAGCCCCGTGACCCAGACGCCTCCCACCAGGCCCACCTCCAACACTGGGACCACATTTCAACCTGAGATTTGGAAGGGATGAAGGTCCAAGCCATGGCACCGGCCCAGGCCAGCTCCTGAGGGGAACGGGGCCGGCGTTAGGGCCGGCCCTGCAGGGTGCCCTCTTCTGAGCAACACGGATGGGTCCTCAGTGTGAGGCCTGGGCAGGCAGGAAAGCCAGAGGGTGGTGCCGACTGAGAGTGCAAGGCCTGTCTGTAGCCCTGGGAGCAGAGTGGACCTGGGTTCCAATCCCGCCTCCCCCTGCCCAGCATCGCTGCGGAGCACCTGGCCCTCACCCATAGGACGCTCAGCTCCTTTTCTCTGCTGCCCAAGGGCTGCACTGAGGGTTAAAGCTGTGTCTCCCAGGGCCATCCCGCGGCCAGGCCGTGCTCAGCGGGGGCCGCCCTCACCAGGAGTGCTCACCTCTCCTCCCGGCTGCTACTGCCTTCTGCGATTGGTTGGGGTCAGTACTTCGGATCTGACTGTGGAATATGCAGAACTCATCCCTGTGTAAGGTTGATGGATCCAGATCCCTGGAAAGAGGCATTTAAAAATGCCAGGGACCTTACCCGTCCTCCCCAAATGAGTATAACATAGCACCTGCCTCACAGGGCTTTCTGGGGAGCATGTCAAACCATGCCTTTAGAGCTCGGAATCGTGTCTGACCCACTGCAAGCCCTGGATGAGCAGCCAGTTCCTGTGAATATTTTTAGATAACATGGACCACAAATGTAAGGCAGTAAACATGGAGGTGAAGAGAAATCAGGAACCCTGTAAAGGCGAGGCAGGACCTGGAGGGACAGCCTCCTGAG | CCTGCAGAGAGGGTCCTTCAAGGTCCTGCCTAGGCCAGGAGAGATGTGTGCTTCATTTCGGGGAGCTAAGATGCATCGATGTCCCCTGGAAGTGTCAGGTTTTTCAGAAACCTTGAGTTGGCAACAGAGATGCAAAAGTGAGATGCATCATGGCTCAGGATGCCCTGCACGGGCCTTGCACCTGGTGGAGCTGAGCAGCCCAGTCCTGGATACCCAGCTAGTGATGCTGGAGAGGCCACCTAAGAAGCTGCACATTGTCCTCTGATGCCTTCCCTGGATTTGTGCAGAGACTGGGAGGGCTTTCAGGGAGGATCAGTGTCATCAGAGTCCCGGGCTGACCTTTGGCACAGGCAGGGCAGGCAGATGGAGCCACTCCTGTCTCAGGAAGCCTGCTCACTGCCCTGAGGAGACGCTTCTGGGAAGGGGAGGAGTGGTCTTTCTTGAGTGGCCATGCCAGACATCATCCGGGACCCCTGTGCCTCCAGGAGGATCCCCGGTCACCCCAGCCATCTGCACAGCCCTGACCCTCCCTCAGGCTCGCCTCCCCTGAGCACCTCACTACAGCTGGCCCGCTCACTCCCCGAGGCCTCGTGCCCCGTGGCTCCAGCTGCTCACAGTCTCCCTGGCCAGGGCCTTGTACATCCTGGGCACCCAGCAGATGGTCGTTTGTTCACATAATCTTGTGAGCACCTTCCTTTGCTGGTGTTGGAGCATGATGATAGGGACAGGGGGCCAGAGCTGGAGTGGAGGGACATCGGGAGGGCTGGGATACAGATCAGGGTCCCTAAGCCAGCCCTAGAGGCTGGAGGTGGGGAGGAGCCTTCCCTAGGAGCAGTGGTCTAGGCTGTGACCCAAAGGACAGCAGTGGGGGCACCTCCTGCCAGGTGGGGAGTGTCCCAGGCCGAGGGAGGAGCCGTGCAGTGGCTCAGGGGCAGAAGGAGGACACCTGCTGTCCAGGGCTCAGGGAGAAGTGTGGTGCAGCTGGGAGGGGGCTCTAAGACCTCCTCCTCTCACCCCCAGGGAACCTAATGCCCCTCTCTGGCCCTGCACCCCTCTACTCAGGGGAAACCAGGGCTCGCCTGCTGCTCCAGGTGCCCCGACCCAGCGATCGGGTGCAGAGCTCTGCGTTTCAGGAATGAGAGGCAGGTCTTCATGCAAGCCATATTTTTGAGAATGGTTCTCTGTTCACTCAACACATACAAACCTGGCAGACCCAGATCACCATCTGGGATGGAGGCACCCAGGTGGCAGAAGGGGAGAAGAACTGTGGGTGGACGTGCAGGGAGAGCAGCTGCAGCTGGCACTGCAGTGGGTGCTGGCCCAGGAGACACTGGCTGCCGTTCACCATGCAGCAAAGCTTTATCAAGCGCACACTGGGCAGCCATGGGGCGGGTACCACGGCCAGTAACGAGCAAGAAGGATGCCATCCTGCCCTCTCTGAACTTATAGTCTGCTAGGGAAGACAGACACTGTGACAAACTAAGGTTGGGGAGGGCAGCCACAGAGTAGGTGCAGGAGCATCTATTCTGGGTAGGCTTCCTGGAGGAGGCAGCACAGGTGCCGAGCCCTGAAGGATAAGCATAAGCCAAGAGAAGTGGGTGGATTATTTAAGGCCCTGAAGGACATGAGGCATGGTTCCCTTTGTTCCTGGGAACACGCAAGAGAGCCCATGTGCGCTGGCCTCGGCCGGGTCTGTGGGTACAGTGCGTTTCCAGGTAGTTCCCCCGAGAAGACCACAGTGTGAGTGAAGCCCAGGGCAGTGCGGACGTGGGGCTTTGTTGCTGTGTGTGTCCCCACCCTGCTGAGCCCCAACACCCCTGTCCCCCCAGCTCTCCTATGTGGACGCCGAGGGCAACCCTGTGGGTGTGGTACAGATGACCTTCCTGCGGCTGCTGAGCGCCTCTGCCCACCAGAACGTCACCTACCACTGCTACCAGTCAGTGGCCTGGCAGGACGCAGCCACGGGCAGCTACGACAAGGCCCTCCGCTTCCTGGGCTCCAACGACGAGGAGATGTCCTATGACAACAACCCCTACATCCGCGCCCTGGTTGGACGGCTGTGCTGTGAGTATCCCGCGCCGCGCCCAGCACCCCTGCTCACGCCTCCGTGGGGCTCGCTCCTCACTCAGCACGGGTTTACCTGTCCCCAAGATGCCTGCCAGAGGGCAGTGAGGGCCCCGGACCAGACTCTCGCCCCAGGCAGCCCCACAGTTGCAGGGAGACTAGGAATCCCAGGCCTATGCAGCTGGAGCTCCGGGAACTTGGGAGAGTTCTGTGGGTTAGGATGGGAAATCTGAGACCTGGCCGGAAAAGCCAGGGGCGTGGGTCCCTCGCCCCATCCAGGGCTGTGGCGTGGAGTGAGGAATGGAGGACCCGTTGTGGTTCCAGTTTGGAGCTGGGAGCCTCCCTCTCCTTGGACAGGGCTCTTCTGGGAGTGGCCAGAACTAAGCTGGGCCTGTTCCCGAGAGCACGGCCGTCTGGAAACACTGCAGACAGTTGCCAGCTCTCCGGACAGCCCGGCCCATGGGCCCTCTCCATGTGGGGAGAGCTGTTCTGGTCCCAGACAAGGGAATGGAGGCCGGAGCGGCGGGAGGCTTGCTGAGACCTCACGGGCAGTCAGGGCTGGTATTGGCGCTCATACCCATGGGCCTTCCCACATGCACGCCTTTCCCCTCCCTACTCAGTGAGCTGGGCTCACCTCCGCTAAGGTCCCCTTGAGACTGCCAGGGCCATCGCACAGGTCTGGGATGTGCCCGCGTGTCCTGGAGGTGTTTAGGGTGCAGCTGTGCCCCAAGAGCCCAGGCCTGCGGGAGCCTCAGACATGTCCCCCTCGTGTGGCCTTTTAGAGGCTGGAGGTGGGAATCGCTGAGAATTCCAGCCTGTGGGTCTTCCTGTCACTGACATTGGAGCCTGTTCTCTCCACCACTTATTCTTGAGAGACCTGCGGAAAGCAGCCCTTAGCGCCTCGCTCCTTTAGTGTTTGTAGAAAGGCACGCCTGAGGCCGGGTAAACGGGAAGCGGTTTACTCCGCTCCCAGCTCTGCAGGCTGTCCAGGAATCGTTGTGTGGTGCCAGCATCTGCGTCCAGTGATGGCCCCAGGCTGCTTCCAGTCTTGGGAAGGTGAAGGGGCCAGTGTGTGGAATGCACAGGAGAGAGGAAGCGAGGGGGTGCCAGGCCCTTTTTAACAATCAGCTCTCATGGGAACTAGTAGAGTGAGAACTCACTCATTACCCCGAGGGCAGCACCAAGCCCCGTGACCCAGACGCCTCCCACCAGGCCCACCTCCAACACTGGGACCACATTTCAACCTGAGATTTGGAAGGGATGAAGGTCCAAGCCATGGCACCGGCCCAGGCCAGCTCCTGAGGGGAACGGGGCCGGCGTTAGGGCCGGCCCTGCAGGGTGCCCTCTTCTGAGCAACACGGATGGGTCCTCAGTGTGAGGCCTGGGCAGGCAGGAAAGCCAGAGGGTGGTGCCGACTGAGAGTGCAAGGCCTGTCTGTAGCCCTGGGAGCAGAGTGGACCTGGGTTCCAATCCCGCCTCCCCCTGCCCAGCATCGCTGCGGAGCACCTGGCCCTCACCCATAGGACGCTCAGCTCCTTTTCTCTGCTGCCCAAGGGCTGCACTGAGGGTTAAAGCTGTGTCTCCCAGGGCCATCCCGCGGCCAGGCCGTGCTCAGCGGGGGCCGCCCTCACCAGGAGTGCTCACCTCTCCTCCCGGCTGCTACTGCCTTCTGCGATTGGTTGGGGTCAGTACTTCGGATCTGACTGTGGAATATGCAGAACTCATCCCTGTGTAAGGTTGATGGATCCAGATCCCTGGAAAGAGGCATTTAAAAATGCCAGGGACCTTACCCGTCCTCCCCAAATGAGTATAACATAGCACCTGCCTCACAGGGCTTTCTGGGGAGCATGTCAAACCATGCCTTTAGAGCTCGGAATCGTGTCTGACCCACTGCAAGCCCTGGATGAGCAGCCAGTTCCTGTGAATATTTTTAGATAACATGGACCACAAATGTAAGGCAGTAAACATGGAGGTGAAGAGAAATCAGGAACCCTGTAAAGGCGAGGCAGGACCTGGAGGGACAGCCTCCTGA | pathogenic | 154,487 |
Clinically, how would you classify the variant at chromosome 9, position 134835204, gene COL5A1: benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Ehlers-Danlos_syndrome,_classic_type,_1', 'Familial_thoracic_aortic_aneurysm_and_aortic_dissection'] | CCTTCAAGGTCCTGCCTAGGCCAGGAGAGATGTGTGCTTCATTTCGGGGAGCTAAGATGCATCGATGTCCCCTGGAAGTGTCAGGTTTTTCAGAAACCTTGAGTTGGCAACAGAGATGCAAAAGTGAGATGCATCATGGCTCAGGATGCCCTGCACGGGCCTTGCACCTGGTGGAGCTGAGCAGCCCAGTCCTGGATACCCAGCTAGTGATGCTGGAGAGGCCACCTAAGAAGCTGCACATTGTCCTCTGATGCCTTCCCTGGATTTGTGCAGAGACTGGGAGGGCTTTCAGGGAGGATCAGTGTCATCAGAGTCCCGGGCTGACCTTTGGCACAGGCAGGGCAGGCAGATGGAGCCACTCCTGTCTCAGGAAGCCTGCTCACTGCCCTGAGGAGACGCTTCTGGGAAGGGGAGGAGTGGTCTTTCTTGAGTGGCCATGCCAGACATCATCCGGGACCCCTGTGCCTCCAGGAGGATCCCCGGTCACCCCAGCCATCTGCACAGCCCTGACCCTCCCTCAGGCTCGCCTCCCCTGAGCACCTCACTACAGCTGGCCCGCTCACTCCCCGAGGCCTCGTGCCCCGTGGCTCCAGCTGCTCACAGTCTCCCTGGCCAGGGCCTTGTACATCCTGGGCACCCAGCAGATGGTCGTTTGTTCACATAATCTTGTGAGCACCTTCCTTTGCTGGTGTTGGAGCATGATGATAGGGACAGGGGGCCAGAGCTGGAGTGGAGGGACATCGGGAGGGCTGGGATACAGATCAGGGTCCCTAAGCCAGCCCTAGAGGCTGGAGGTGGGGAGGAGCCTTCCCTAGGAGCAGTGGTCTAGGCTGTGACCCAAAGGACAGCAGTGGGGGCACCTCCTGCCAGGTGGGGAGTGTCCCAGGCCGAGGGAGGAGCCGTGCAGTGGCTCAGGGGCAGAAGGAGGACACCTGCTGTCCAGGGCTCAGGGAGAAGTGTGGTGCAGCTGGGAGGGGGCTCTAAGACCTCCTCCTCTCACCCCCAGGGAACCTAATGCCCCTCTCTGGCCCTGCACCCCTCTACTCAGGGGAAACCAGGGCTCGCCTGCTGCTCCAGGTGCCCCGACCCAGCGATCGGGTGCAGAGCTCTGCGTTTCAGGAATGAGAGGCAGGTCTTCATGCAAGCCATATTTTTGAGAATGGTTCTCTGTTCACTCAACACATACAAACCTGGCAGACCCAGATCACCATCTGGGATGGAGGCACCCAGGTGGCAGAAGGGGAGAAGAACTGTGGGTGGACGTGCAGGGAGAGCAGCTGCAGCTGGCACTGCAGTGGGTGCTGGCCCAGGAGACACTGGCTGCCGTTCACCATGCAGCAAAGCTTTATCAAGCGCACACTGGGCAGCCATGGGGCGGGTACCACGGCCAGTAACGAGCAAGAAGGATGCCATCCTGCCCTCTCTGAACTTATAGTCTGCTAGGGAAGACAGACACTGTGACAAACTAAGGTTGGGGAGGGCAGCCACAGAGTAGGTGCAGGAGCATCTATTCTGGGTAGGCTTCCTGGAGGAGGCAGCACAGGTGCCGAGCCCTGAAGGATAAGCATAAGCCAAGAGAAGTGGGTGGATTATTTAAGGCCCTGAAGGACATGAGGCATGGTTCCCTTTGTTCCTGGGAACACGCAAGAGAGCCCATGTGCGCTGGCCTCGGCCGGGTCTGTGGGTACAGTGCGTTTCCAGGTAGTTCCCCCGAGAAGACCACAGTGTGAGTGAAGCCCAGGGCAGTGCGGACGTGGGGCTTTGTTGCTGTGTGTGTCCCCACCCTGCTGAGCCCCAACACCCCTGTCCCCCCAGCTCTCCTATGTGGACGCCGAGGGCAACCCTGTGGGTGTGGTACAGATGACCTTCCTGCGGCTGCTGAGCGCCTCTGCCCACCAGAACGTCACCTACCACTGCTACCAGTCAGTGGCCTGGCAGGACGCAGCCACGGGCAGCTACGACAAGGCCCTCCGCTTCCTGGGCTCCAACGACGAGGAGATGTCCTATGACAACAACCCCTACATCCGCGCCCTGGTGGACGGCTGTGCTGTGAGTATCCCGCGCCGCGCCCAGCACCCCTGCTCACGCCTCCGTGGGGCTCGCTCCTCACTCAGCACGGGTTTACCTGTCCCCAAGATGCCTGCCAGAGGGCAGTGAGGGCCCCGGACCAGACTCTCGCCCCAGGCAGCCCCACAGTTGCAGGGAGACTAGGAATCCCAGGCCTATGCAGCTGGAGCTCCGGGAACTTGGGAGAGTTCTGTGGGTTAGGATGGGAAATCTGAGACCTGGCCGGAAAAGCCAGGGGCGTGGGTCCCTCGCCCCATCCAGGGCTGTGGCGTGGAGTGAGGAATGGAGGACCCGTTGTGGTTCCAGTTTGGAGCTGGGAGCCTCCCTCTCCTTGGACAGGGCTCTTCTGGGAGTGGCCAGAACTAAGCTGGGCCTGTTCCCGAGAGCACGGCCGTCTGGAAACACTGCAGACAGTTGCCAGCTCTCCGGACAGCCCGGCCCATGGGCCCTCTCCATGTGGGGAGAGCTGTTCTGGTCCCAGACAAGGGAATGGAGGCCGGAGCGGCGGGAGGCTTGCTGAGACCTCACGGGCAGTCAGGGCTGGTATTGGCGCTCATACCCATGGGCCTTCCCACATGCACGCCTTTCCCCTCCCTACTCAGTGAGCTGGGCTCACCTCCGCTAAGGTCCCCTTGAGACTGCCAGGGCCATCGCACAGGTCTGGGATGTGCCCGCGTGTCCTGGAGGTGTTTAGGGTGCAGCTGTGCCCCAAGAGCCCAGGCCTGCGGGAGCCTCAGACATGTCCCCCTCGTGTGGCCTTTTAGAGGCTGGAGGTGGGAATCGCTGAGAATTCCAGCCTGTGGGTCTTCCTGTCACTGACATTGGAGCCTGTTCTCTCCACCACTTATTCTTGAGAGACCTGCGGAAAGCAGCCCTTAGCGCCTCGCTCCTTTAGTGTTTGTAGAAAGGCACGCCTGAGGCCGGGTAAACGGGAAGCGGTTTACTCCGCTCCCAGCTCTGCAGGCTGTCCAGGAATCGTTGTGTGGTGCCAGCATCTGCGTCCAGTGATGGCCCCAGGCTGCTTCCAGTCTTGGGAAGGTGAAGGGGCCAGTGTGTGGAATGCACAGGAGAGAGGAAGCGAGGGGGTGCCAGGCCCTTTTTAACAATCAGCTCTCATGGGAACTAGTAGAGTGAGAACTCACTCATTACCCCGAGGGCAGCACCAAGCCCCGTGACCCAGACGCCTCCCACCAGGCCCACCTCCAACACTGGGACCACATTTCAACCTGAGATTTGGAAGGGATGAAGGTCCAAGCCATGGCACCGGCCCAGGCCAGCTCCTGAGGGGAACGGGGCCGGCGTTAGGGCCGGCCCTGCAGGGTGCCCTCTTCTGAGCAACACGGATGGGTCCTCAGTGTGAGGCCTGGGCAGGCAGGAAAGCCAGAGGGTGGTGCCGACTGAGAGTGCAAGGCCTGTCTGTAGCCCTGGGAGCAGAGTGGACCTGGGTTCCAATCCCGCCTCCCCCTGCCCAGCATCGCTGCGGAGCACCTGGCCCTCACCCATAGGACGCTCAGCTCCTTTTCTCTGCTGCCCAAGGGCTGCACTGAGGGTTAAAGCTGTGTCTCCCAGGGCCATCCCGCGGCCAGGCCGTGCTCAGCGGGGGCCGCCCTCACCAGGAGTGCTCACCTCTCCTCCCGGCTGCTACTGCCTTCTGCGATTGGTTGGGGTCAGTACTTCGGATCTGACTGTGGAATATGCAGAACTCATCCCTGTGTAAGGTTGATGGATCCAGATCCCTGGAAAGAGGCATTTAAAAATGCCAGGGACCTTACCCGTCCTCCCCAAATGAGTATAACATAGCACCTGCCTCACAGGGCTTTCTGGGGAGCATGTCAAACCATGCCTTTAGAGCTCGGAATCGTGTCTGACCCACTGCAAGCCCTGGATGAGCAGCCAGTTCCTGTGAATATTTTTAGATAACATGGACCACAAATGTAAGGCAGTAAACATGGAGGTGAAGAGAAATCAGGAACCCTGTAAAGGCGAGGCAGGACCTGGAGGGACAGCCTCCTGAGTTTGGCTTTGAGCT | CCTTCAAGGTCCTGCCTAGGCCAGGAGAGATGTGTGCTTCATTTCGGGGAGCTAAGATGCATCGATGTCCCCTGGAAGTGTCAGGTTTTTCAGAAACCTTGAGTTGGCAACAGAGATGCAAAAGTGAGATGCATCATGGCTCAGGATGCCCTGCACGGGCCTTGCACCTGGTGGAGCTGAGCAGCCCAGTCCTGGATACCCAGCTAGTGATGCTGGAGAGGCCACCTAAGAAGCTGCACATTGTCCTCTGATGCCTTCCCTGGATTTGTGCAGAGACTGGGAGGGCTTTCAGGGAGGATCAGTGTCATCAGAGTCCCGGGCTGACCTTTGGCACAGGCAGGGCAGGCAGATGGAGCCACTCCTGTCTCAGGAAGCCTGCTCACTGCCCTGAGGAGACGCTTCTGGGAAGGGGAGGAGTGGTCTTTCTTGAGTGGCCATGCCAGACATCATCCGGGACCCCTGTGCCTCCAGGAGGATCCCCGGTCACCCCAGCCATCTGCACAGCCCTGACCCTCCCTCAGGCTCGCCTCCCCTGAGCACCTCACTACAGCTGGCCCGCTCACTCCCCGAGGCCTCGTGCCCCGTGGCTCCAGCTGCTCACAGTCTCCCTGGCCAGGGCCTTGTACATCCTGGGCACCCAGCAGATGGTCGTTTGTTCACATAATCTTGTGAGCACCTTCCTTTGCTGGTGTTGGAGCATGATGATAGGGACAGGGGGCCAGAGCTGGAGTGGAGGGACATCGGGAGGGCTGGGATACAGATCAGGGTCCCTAAGCCAGCCCTAGAGGCTGGAGGTGGGGAGGAGCCTTCCCTAGGAGCAGTGGTCTAGGCTGTGACCCAAAGGACAGCAGTGGGGGCACCTCCTGCCAGGTGGGGAGTGTCCCAGGCCGAGGGAGGAGCCGTGCAGTGGCTCAGGGGCAGAAGGAGGACACCTGCTGTCCAGGGCTCAGGGAGAAGTGTGGTGCAGCTGGGAGGGGGCTCTAAGACCTCCTCCTCTCACCCCCAGGGAACCTAATGCCCCTCTCTGGCCCTGCACCCCTCTACTCAGGGGAAACCAGGGCTCGCCTGCTGCTCCAGGTGCCCCGACCCAGCGATCGGGTGCAGAGCTCTGCGTTTCAGGAATGAGAGGCAGGTCTTCATGCAAGCCATATTTTTGAGAATGGTTCTCTGTTCACTCAACACATACAAACCTGGCAGACCCAGATCACCATCTGGGATGGAGGCACCCAGGTGGCAGAAGGGGAGAAGAACTGTGGGTGGACGTGCAGGGAGAGCAGCTGCAGCTGGCACTGCAGTGGGTGCTGGCCCAGGAGACACTGGCTGCCGTTCACCATGCAGCAAAGCTTTATCAAGCGCACACTGGGCAGCCATGGGGCGGGTACCACGGCCAGTAACGAGCAAGAAGGATGCCATCCTGCCCTCTCTGAACTTATAGTCTGCTAGGGAAGACAGACACTGTGACAAACTAAGGTTGGGGAGGGCAGCCACAGAGTAGGTGCAGGAGCATCTATTCTGGGTAGGCTTCCTGGAGGAGGCAGCACAGGTGCCGAGCCCTGAAGGATAAGCATAAGCCAAGAGAAGTGGGTGGATTATTTAAGGCCCTGAAGGACATGAGGCATGGTTCCCTTTGTTCCTGGGAACACGCAAGAGAGCCCATGTGCGCTGGCCTCGGCCGGGTCTGTGGGTACAGTGCGTTTCCAGGTAGTTCCCCCGAGAAGACCACAGTGTGAGTGAAGCCCAGGGCAGTGCGGACGTGGGGCTTTGTTGCTGTGTGTGTCCCCACCCTGCTGAGCCCCAACACCCCTGTCCCCCCAGCTCTCCTATGTGGACGCCGAGGGCAACCCTGTGGGTGTGGTACAGATGACCTTCCTGCGGCTGCTGAGCGCCTCTGCCCACCAGAACGTCACCTACCACTGCTACCAGTCAGTGGCCTGGCAGGACGCAGCCACGGGCAGCTACGACAAGGCCCTCCGCTTCCTGGGCTCCAACGACGAGGAGATGTCCTATGACAACAACCCCTACATCCGCGCCCTGGTGGACGGCTGTGCTGTATCCCGCGCCGCGCCCAGCACCCCTGCTCACGCCTCCGTGGGGCTCGCTCCTCACTCAGCACGGGTTTACCTGTCCCCAAGATGCCTGCCAGAGGGCAGTGAGGGCCCCGGACCAGACTCTCGCCCCAGGCAGCCCCACAGTTGCAGGGAGACTAGGAATCCCAGGCCTATGCAGCTGGAGCTCCGGGAACTTGGGAGAGTTCTGTGGGTTAGGATGGGAAATCTGAGACCTGGCCGGAAAAGCCAGGGGCGTGGGTCCCTCGCCCCATCCAGGGCTGTGGCGTGGAGTGAGGAATGGAGGACCCGTTGTGGTTCCAGTTTGGAGCTGGGAGCCTCCCTCTCCTTGGACAGGGCTCTTCTGGGAGTGGCCAGAACTAAGCTGGGCCTGTTCCCGAGAGCACGGCCGTCTGGAAACACTGCAGACAGTTGCCAGCTCTCCGGACAGCCCGGCCCATGGGCCCTCTCCATGTGGGGAGAGCTGTTCTGGTCCCAGACAAGGGAATGGAGGCCGGAGCGGCGGGAGGCTTGCTGAGACCTCACGGGCAGTCAGGGCTGGTATTGGCGCTCATACCCATGGGCCTTCCCACATGCACGCCTTTCCCCTCCCTACTCAGTGAGCTGGGCTCACCTCCGCTAAGGTCCCCTTGAGACTGCCAGGGCCATCGCACAGGTCTGGGATGTGCCCGCGTGTCCTGGAGGTGTTTAGGGTGCAGCTGTGCCCCAAGAGCCCAGGCCTGCGGGAGCCTCAGACATGTCCCCCTCGTGTGGCCTTTTAGAGGCTGGAGGTGGGAATCGCTGAGAATTCCAGCCTGTGGGTCTTCCTGTCACTGACATTGGAGCCTGTTCTCTCCACCACTTATTCTTGAGAGACCTGCGGAAAGCAGCCCTTAGCGCCTCGCTCCTTTAGTGTTTGTAGAAAGGCACGCCTGAGGCCGGGTAAACGGGAAGCGGTTTACTCCGCTCCCAGCTCTGCAGGCTGTCCAGGAATCGTTGTGTGGTGCCAGCATCTGCGTCCAGTGATGGCCCCAGGCTGCTTCCAGTCTTGGGAAGGTGAAGGGGCCAGTGTGTGGAATGCACAGGAGAGAGGAAGCGAGGGGGTGCCAGGCCCTTTTTAACAATCAGCTCTCATGGGAACTAGTAGAGTGAGAACTCACTCATTACCCCGAGGGCAGCACCAAGCCCCGTGACCCAGACGCCTCCCACCAGGCCCACCTCCAACACTGGGACCACATTTCAACCTGAGATTTGGAAGGGATGAAGGTCCAAGCCATGGCACCGGCCCAGGCCAGCTCCTGAGGGGAACGGGGCCGGCGTTAGGGCCGGCCCTGCAGGGTGCCCTCTTCTGAGCAACACGGATGGGTCCTCAGTGTGAGGCCTGGGCAGGCAGGAAAGCCAGAGGGTGGTGCCGACTGAGAGTGCAAGGCCTGTCTGTAGCCCTGGGAGCAGAGTGGACCTGGGTTCCAATCCCGCCTCCCCCTGCCCAGCATCGCTGCGGAGCACCTGGCCCTCACCCATAGGACGCTCAGCTCCTTTTCTCTGCTGCCCAAGGGCTGCACTGAGGGTTAAAGCTGTGTCTCCCAGGGCCATCCCGCGGCCAGGCCGTGCTCAGCGGGGGCCGCCCTCACCAGGAGTGCTCACCTCTCCTCCCGGCTGCTACTGCCTTCTGCGATTGGTTGGGGTCAGTACTTCGGATCTGACTGTGGAATATGCAGAACTCATCCCTGTGTAAGGTTGATGGATCCAGATCCCTGGAAAGAGGCATTTAAAAATGCCAGGGACCTTACCCGTCCTCCCCAAATGAGTATAACATAGCACCTGCCTCACAGGGCTTTCTGGGGAGCATGTCAAACCATGCCTTTAGAGCTCGGAATCGTGTCTGACCCACTGCAAGCCCTGGATGAGCAGCCAGTTCCTGTGAATATTTTTAGATAACATGGACCACAAATGTAAGGCAGTAAACATGGAGGTGAAGAGAAATCAGGAACCCTGTAAAGGCGAGGCAGGACCTGGAGGGACAGCCTCCTGAGTTTGGCTTTGAGCTNNNN | pathogenic | 154,488 |
Gene mutation in KCNT1 (potassium sodium-activated channel subfamily T member 1) at chromosome 9, position 135702420—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | AAGGGGGAGGTGGAGACCCTTCCTCTTTCACGGAGGTTGCGGGGGGCCCTCAGGGAAGCAGAGGGGACGAGGGTGGGGGGTGAGGCTGGACTGTTGGGAGGACATCCCTGGCCTGGCTCGTGCTGAGGTCGTAGCGGGAGGAGGTGGGGTGGGTGGCAGGGGCTCTCCTCCCGAGAGGGGAGGCAAGAAGGAGCCCGGGCAGGTGCCACCACACGGGGACGTCTGTCCGGGGTGCCCCAGTCTCCTGTGGAGAAGGCGCGGCTCTGGGCCTCGGGCTGGCATCCTGGACTTTGGGCCAAAGATGGGTGAAGGGTGTTTGGAGCAGAGGGAGGTTATGTAATATAAGGTGGTGTCTCCATCCCTGCTCCGCCCAGCCTTGGCTGCAGGTCAGACATGGAGGAGGACGGGGTTGGAGAGGAGGGCAAAAGCTCTCGGGGACCTGGGCCCCTCTCCCGGCCCTGCCCCTGGCCAGGGAGGGATGGACGGGCTGGCGATCTGGGGCTCCTCAGTGGCAGAGTGGGGCCAAGTTTTTGTTTCCCTAAAGCCCTCGGAATGTCATCAAACCTGTGACTCTCCTGCCGTTGACAACACGTGTAATTACTGCTAATTAATCACAGATGCAGATGGTGCGGCCTCTCAGTTTTTTCTGAGTTCCCCAGGCAGGAGGGCGTTGGCAGAAAGGCCACCATCTTGCCCCGGCGGCACCCGCCCAGGGGTGGTGGGACCCCGGCAGCAGCACCGGCCAATCTAGGGACCTGAGGAAAAACCCCCAAGATGCCCACGAGCTGTGTGGCGGGGGCACAGGCTGAACCTCTGCTGGGGACTTAGCATCCTAGACTTCCCCGAGTGTTCCCCACCCACCCCTCAAAAGCATCTGTGTTCAGCCTGCTGCCTCCTGGAGAAACAGGGAAGGACCCTCTGGAGAGACACTGGGGAGGCCAGGGACCACAAAGTACATGGCATGCGCCCTCCAAATGGACCTGGCCCTCCCCCTGGCCCTCGTGGGCACAGTCCTGGCTTAGTGAGGGGCCTGGTCCACCCTGCAAACCAACAAAGCTCTGGGGACAGAAATCGCAGTTCTCCAGAGCTCTGTGTGAGGCTGAGCCAGGGTGACGCATGTGTAACAGTGTGAGCACGTGCACGGGAAAGGGGGCCCGCAGGGGGACCCTCTGCTTCCTAGTCTTTGGCCTGCAGCATCTTAAGTTGGGGCCCCTCCCCACCCGTCTAAAGGTGCTGTGTGTGCCCGTCTGGGTGAGAGCACAGGGCGGGGTGCAGTCATCCCCCTCCCCCAGGCCAAGCCCAGGATGTGGCGCCCACCCACAGATGCCGCAGCCTGCGGGGGGTGTGGGGGCGGGGGGGCGGGGAGTCGTCTTGAATCTGGCTTGTGTTCAATGACCAGTGTTGACCACGGCAGAGCAGCACAAGCGGGAGGTGCTGACGGTCCCTGGGCGCAGCGGCTGGACGCTGGCGGTCCGAGCAGCGCATGTGCCCTGCTGCCCGCCAAGGACCCAGAGCCCCCTGAGCCCCCGCCCACCACGGAGCCCTCCCAGGGGTGTAGGGCCCGGTGGCGGCGCGCTTGGGCTTTTCTAGCCATTGACGAACCCCGTCCTGTTTTTCGGAGTTTTGAGGGCTCAGAGGGCCGCGGCGGGAGCGGATCGCCCTCCCTACCCCGCACCCCCGTCCCAGCCTGGGCCAGAGCCGCCGCGGGTCCCGGCGCGGCCGGCAGGGGGCGCGCGCGGACAGACGCCTGCACCCGACCCTGGAACTGGCGTCTTTTCCTCGCTAATCTGCGAGGAAAAAAAAAATGTTTTTCAGGGCAACGCGAGGGAAGAAGGTGGCGGCTCCCACTCGCTTCTCCCTCGGGTCGGGTCCGAGCTGCCAGGCCGCATGCCACTCCCTGACGGGGCGCGGACCCCGGGGGGCGTCTGCCGGGAGGCGCGCGGCGGGGGCTACACCAACCGGACCTTCGAGTTTGACGACGGCCAATGCGCCCCCAGGTACAGTCTGCTGCGCCCTCCCCACGCGGGGAGGCCCCGGTCTAACCTAAGACCCCCAAGTTCCCCCTCAGGCTCCCGCACCCTCCAGGACCCGCCATTCCCAGGGCCATCCAACTTCCCCAGGACCCGCGAGTGCCCTCCCAACCACCTTGGGGAACAGGGGCGCCCCTCAGGGTGGGCCGCACTAATCAGCAGGTGCCGAGGCAGCAGCGTCCGTCCCCATCTGTCCTCGACCTGGTAAGAAGCTGGGGGGAGCGGCCGTGGCTACATGGGGGTCCTGAGCATCTCCCAGGTGTGGGGAGTGGCAGGGAGGCTGGGGGCGGTGCAGGGCCTTCCATCTCCCCCAGCCCCTGCCCCACCCCAGCTTGGGGAGGAAGGTTCCATCCTTCTTGTGTGGCATGGCAGTGCTCGGCCAGGGTGGGGTGCCCGGCGAGGTTACCCCACACAGTAGGGGGTTTCCAGAGCAACCTTCCAAGGAAGAGTCCCCAGTGGGAAGTGGGCTAAGTGGCTGTCAGATGAGGGCGGGAGTCCTGGGTTCTGGTCACTCCTCGTTCCCCGCTGGCCTATCCCTGGGAGGAGAGGGCCAGTTGAGAATGGCATTCAGGTGACCTGGAGCTAGCTGTTCCCTGTGCAGTGTCCTGGGATGCCATGCGTCTGCCGTCCACCCAGTGACCAGTGCAGAGGCACGGACCGGCAGCTGAGTGGGACAGTCCTGAGCGGAGGTTGCCCCAGGGTCCAGGTTCCCCATCCTCTCCCCCATCCCTCAGCTCTTGAAAACAGGCAAGTCTGCCCCTCACCCTGTCCCCAGAGCCAGACTCCAGGGAACCCTGGGCAGAGCCGGTCACTGCCTTGGGCGAACCCCTCCCCACCAGGACAGAGCCCTTTCTTCTGGATCCTGCCCAGTCTCAGGCTGTCCTGAGGCCAGAGAAGGGGGTGGAAGAGCATACCTGAGAGCGGGAGGCCTGGTGCGGCTGCCTGTTTGTTCTATGGGACTCAGTTTCCCCGAGTGTAAAATGAGGAGGTAGGGCGGATGGTCTTTAAGGGCTGCCTCTGGTGAGGGACCAGGCTGGAGAGGAGGTTCCCAGAATCAAGAGGCAGGCACAGCACCCACCTGGCACCCGGGGGAGTCCGGGGTACAGCGTGTGTGAGGAGCAGGTGCTCTGAGGGTGGACAGTGACTTGGTGATGTCCTTGGGAAGTGGGCACAGCCTGGACGTGCTCTGAGGGACTATCCGGGGGATGCCTGTCAGGCACAGAGAAAATGACCCCAAGGGGGTCCTGGATTGCCCTCATCTTTGTGGGCTGGCCGGCCCCTACCATCTCCCTCCCCAGCCTAGCGTTGCCCTCCCTGGCCATTCTGCTGGAGTTTATCACCTACCCTGCTGGGCCTGACCTGCTCCAGACGAGCCGGCAGGACAGTGTCCTCAGGGTCCAGCCTTTAGCTCCAGGCCTCATCCTCCGGGTCCTTCCAGACACCTGTCTCTCCCAATTGGCCCTGCCCACCGGCCCGGGACAGCTCCTCCTCCCCGCTGGACTGAGCTGGCCTCCGTTGCAACAGAGATTCCCTGTCACACTGCAGGCAGAGCAGCCGCCGGCAGTGGAGGGATGTCAGGCGTCAGGCTTGGGGAGGGAGCAGGACCTGGGCTTGGCTGGGCTCGGGAGCGGGGAGCTGAGCTCCAGGTGAGGCCAAGGCTTGCGGCCCAGGCAGGTGGCTTCAGCTGCAGAAAGAAGAACCTTCGTGCTGCCTGGTGGTGGGGGGAGCTCTGTGGGGCGGGTTTCCCCACCAGCTCTCACATGGGGAGGAGGGTGCCAGGCAACAGCGTGGTCAGAACCCAGGCCCTGGAGTCCATAGGTCTTGGTGCCAGGCCTTGAGCAGGCCTCTGTCTTTCCTGGGTGCTGGAGGATGCCAGCCTTGGTGCTATGGTTCAGAGGGGCCAGGAGGTGCTTGGACACCCCACCCCACTCCAGTGCCCCAGCTCAAACCCCCAGCTCCACGCTAGTGGTGTCCCTGAGTCAGCCTCAAGGCCATCAGGCCGGAAAGTGGGGCTCCAGAGAGGAGCTCCTGGCCTTCCAGTTTGCAGGGGTCTTCACGGGCCTCTG | AAGGGGGAGGTGGAGACCCTTCCTCTTTCACGGAGGTTGCGGGGGGCCCTCAGGGAAGCAGAGGGGACGAGGGTGGGGGGTGAGGCTGGACTGTTGGGAGGACATCCCTGGCCTGGCTCGTGCTGAGGTCGTAGCGGGAGGAGGTGGGGTGGGTGGCAGGGGCTCTCCTCCCGAGAGGGGAGGCAAGAAGGAGCCCGGGCAGGTGCCACCACACGGGGACGTCTGTCCGGGGTGCCCCAGTCTCCTGTGGAGAAGGCGCGGCTCTGGGCCTCGGGCTGGCATCCTGGACTTTGGGCCAAAGATGGGTGAAGGGTGTTTGGAGCAGAGGGAGGTTATGTAATATAAGGTGGTGTCTCCATCCCTGCTCCGCCCAGCCTTGGCTGCAGGTCAGACATGGAGGAGGACGGGGTTGGAGAGGAGGGCAAAAGCTCTCGGGGACCTGGGCCCCTCTCCCGGCCCTGCCCCTGGCCAGGGAGGGATGGACGGGCTGGCGATCTGGGGCTCCTCAGTGGCAGAGTGGGGCCAAGTTTTTGTTTCCCTAAAGCCCTCGGAATGTCATCAAACCTGTGACTCTCCTGCCGTTGACAACACGTGTAATTACTGCTAATTAATCACAGATGCAGATGGTGCGGCCTCTCAGTTTTTTCTGAGTTCCCCAGGCAGGAGGGCGTTGGCAGAAAGGCCACCATCTTGCCCCGGCGGCACCCGCCCAGGGGTGGTGGGACCCCGGCAGCAGCACCGGCCAATCTAGGGACCTGAGGAAAAACCCCCAAGATGCCCACGAGCTGTGTGGCGGGGGCACAGGCTGAACCTCTGCTGGGGACTTAGCATCCTAGACTTCCCCGAGTGTTCCCCACCCACCCCTCAAAAGCATCTGTGTTCAGCCTGCTGCCTCCTGGAGAAACAGGGAAGGACCCTCTGGAGAGACACTGGGGAGGCCAGGGACCACAAAGTACATGGCATGCGCCCTCCAAATGGACCTGGCCCTCCCCCTGGCCCTCGTGGGCACAGTCCTGGCTTAGTGAGGGGCCTGGTCCACCCTGCAAACCAACAAAGCTCTGGGGACAGAAATCGCAGTTCTCCAGAGCTCTGTGTGAGGCTGAGCCAGGGTGACGCATGTGTAACAGTGTGAGCACGTGCACGGGAAAGGGGGCCCGCAGGGGGACCCTCTGCTTCCTAGTCTTTGGCCTGCAGCATCTTAAGTTGGGGCCCCTCCCCACCCGTCTAAAGGTGCTGTGTGTGCCCGTCTGGGTGAGAGCACAGGGCGGGGTGCAGTCATCCCCCTCCCCCAGGCCAAGCCCAGGATGTGGCGCCCACCCACAGATGCCGCAGCCTGCGGGGGGTGTGGGGGCGGGGGGGCGGGGAGTCGTCTTGAATCTGGCTTGTGTTCAATGACCAGTGTTGACCACGGCAGAGCAGCACAAGCGGGAGGTGCTGACGGTCCCTGGGCGCAGCGGCTGGACGCTGGCGGTCCGAGCAGCGCATGTGCCCTGCTGCCCGCCAAGGACCCAGAGCCCCCTGAGCCCCCGCCCACCACGGAGCCCTCCCAGGGGTGTAGGGCCCGGTGGCGGCGCGCTTGGGCTTTTCTAGCCATTGACGAACCCCGTCCTGTTTTTCGGAGTTTTGAGGGCTCAGAGGGCCGCGGCGGGAGCGGATCGCCCTCCCTACCCCGCACCCCCGTCCCAGCCTGGGCCAGAGCCGCCGCGGGTCCCGGCGCGGCCGGCAGGGGGCGCGCGCGGACAGACGCCTGCACCCGACCCTGGAACTGGCGTCTTTTCCTCGCTAATCTGCGAGGAAAAAAAAAATGTTTTTCAGGGCAACGCGAGGGAAGAAGGTGGCGGCTCCCACTCGCTTCTCCCTCGGGTCGGGTCCGAGCTGCCAGGCCGCATGCCACTCCCTGACGGGGCGCGGACCCCGGGGGGCGTCTGCCGGGAGGCGCGCGGCGGGGGCTACACCAACCGGACCTTCGAGTTTGACGACGGCCAATGCGCCCCCAGGTACAGTCTGCTGCGCCCTCCCCACGCGGGGAGGCCCCGGTCTAACCTAAGACCCCCCAAGTTCCCCCTCAGGCTCCCGCACCCTCCAGGACCCGCCATTCCCAGGGCCATCCAACTTCCCCAGGACCCGCGAGTGCCCTCCCAACCACCTTGGGGAACAGGGGCGCCCCTCAGGGTGGGCCGCACTAATCAGCAGGTGCCGAGGCAGCAGCGTCCGTCCCCATCTGTCCTCGACCTGGTAAGAAGCTGGGGGGAGCGGCCGTGGCTACATGGGGGTCCTGAGCATCTCCCAGGTGTGGGGAGTGGCAGGGAGGCTGGGGGCGGTGCAGGGCCTTCCATCTCCCCCAGCCCCTGCCCCACCCCAGCTTGGGGAGGAAGGTTCCATCCTTCTTGTGTGGCATGGCAGTGCTCGGCCAGGGTGGGGTGCCCGGCGAGGTTACCCCACACAGTAGGGGGTTTCCAGAGCAACCTTCCAAGGAAGAGTCCCCAGTGGGAAGTGGGCTAAGTGGCTGTCAGATGAGGGCGGGAGTCCTGGGTTCTGGTCACTCCTCGTTCCCCGCTGGCCTATCCCTGGGAGGAGAGGGCCAGTTGAGAATGGCATTCAGGTGACCTGGAGCTAGCTGTTCCCTGTGCAGTGTCCTGGGATGCCATGCGTCTGCCGTCCACCCAGTGACCAGTGCAGAGGCACGGACCGGCAGCTGAGTGGGACAGTCCTGAGCGGAGGTTGCCCCAGGGTCCAGGTTCCCCATCCTCTCCCCCATCCCTCAGCTCTTGAAAACAGGCAAGTCTGCCCCTCACCCTGTCCCCAGAGCCAGACTCCAGGGAACCCTGGGCAGAGCCGGTCACTGCCTTGGGCGAACCCCTCCCCACCAGGACAGAGCCCTTTCTTCTGGATCCTGCCCAGTCTCAGGCTGTCCTGAGGCCAGAGAAGGGGGTGGAAGAGCATACCTGAGAGCGGGAGGCCTGGTGCGGCTGCCTGTTTGTTCTATGGGACTCAGTTTCCCCGAGTGTAAAATGAGGAGGTAGGGCGGATGGTCTTTAAGGGCTGCCTCTGGTGAGGGACCAGGCTGGAGAGGAGGTTCCCAGAATCAAGAGGCAGGCACAGCACCCACCTGGCACCCGGGGGAGTCCGGGGTACAGCGTGTGTGAGGAGCAGGTGCTCTGAGGGTGGACAGTGACTTGGTGATGTCCTTGGGAAGTGGGCACAGCCTGGACGTGCTCTGAGGGACTATCCGGGGGATGCCTGTCAGGCACAGAGAAAATGACCCCAAGGGGGTCCTGGATTGCCCTCATCTTTGTGGGCTGGCCGGCCCCTACCATCTCCCTCCCCAGCCTAGCGTTGCCCTCCCTGGCCATTCTGCTGGAGTTTATCACCTACCCTGCTGGGCCTGACCTGCTCCAGACGAGCCGGCAGGACAGTGTCCTCAGGGTCCAGCCTTTAGCTCCAGGCCTCATCCTCCGGGTCCTTCCAGACACCTGTCTCTCCCAATTGGCCCTGCCCACCGGCCCGGGACAGCTCCTCCTCCCCGCTGGACTGAGCTGGCCTCCGTTGCAACAGAGATTCCCTGTCACACTGCAGGCAGAGCAGCCGCCGGCAGTGGAGGGATGTCAGGCGTCAGGCTTGGGGAGGGAGCAGGACCTGGGCTTGGCTGGGCTCGGGAGCGGGGAGCTGAGCTCCAGGTGAGGCCAAGGCTTGCGGCCCAGGCAGGTGGCTTCAGCTGCAGAAAGAAGAACCTTCGTGCTGCCTGGTGGTGGGGGGAGCTCTGTGGGGCGGGTTTCCCCACCAGCTCTCACATGGGGAGGAGGGTGCCAGGCAACAGCGTGGTCAGAACCCAGGCCCTGGAGTCCATAGGTCTTGGTGCCAGGCCTTGAGCAGGCCTCTGTCTTTCCTGGGTGCTGGAGGATGCCAGCCTTGGTGCTATGGTTCAGAGGGGCCAGGAGGTGCTTGGACACCCCACCCCACTCCAGTGCCCCAGCTCAAACCCCCAGCTCCACGCTAGTGGTGTCCCTGAGTCAGCCTCAAGGCCATCAGGCCGGAAAGTGGGGCTCCAGAGAGGAGCTCCTGGCCTTCCAGTTTGCAGGGGTCTTCACGGGCCTCT | benign | 154,561 |
Determine whether the variant at chromosome 9, position 135714735, in gene KCNT1 (potassium sodium-activated channel subfamily T member 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | GTAGCCCCGGCCCTCAGTCCCAGCCCTCAGCCAACACAACAGCCAAGGATTTTAGCCCCGGCCCTCAGCCAACACAACAGCGAAGTATTTTCAAGGTTTCTGGCTCTGTGGGGGGAACAAGGCAGGATGCCAGGAGGCCTGCAGGACACCTGCTTATGGCCGTGTGCTCGCTCAAGTGTCAAAGCAGCTTCCCAAGGGAAGAAGGGCATCTTGTCCTTGTCACCCTCCCCAGGCCACATCTGGGGAGCAGGGGTGGGGCCAGGTCTCTGGACTCCTGGTGCACTTCCTTCCCCTGGTGACTCCTGAAGCAAGCCAAGGTCCAAGCCCCTGAGCTTGTCCATGGGCCCTGCCAAGACTGGGCCTTGAGGCCAGGAGGAGGAACCAGAGCCGCTCAAAAGGCAGACGGGGTGGGGACGGGAGGAGGCAGCCACGCCTGAGGAGCCGGCAGTCTCTTGGGGTTTTGCCATTGAAAGGGGCTTTCAGTGAGGAAGGCACAAAATCAAGAAAATAGAGCCCCGACCCCTGGCCACGTGGTTCCCCTGCCTGCCTGCACCTCCCCATGGCCCAGCCAGCTTGTGACTAAGGAAAAACATGCAGCTACGCTGATGCAGTTAGGAAAATGTTATTTTTTAAATGCTGCCAGATCCTGGGGGTTGAACCTGTGACCTCAGAACAAGGAGCAGGGTTTGGGGCACGCACCTGCTGCCTGCAGCTTCAGCCTGGGGTGCCCATAGCTCCTTGCCTGCTGCTTGTCTGAGGGTTAGGGGACACAGGAGAGGCACTTGGTGGGGGCTCAAGGAATGTGCCCACCCCTCCCGACTTGAGGAGAGAGAGGAGAGTTTTGTAGCATCCCTGGACCTGGTGTTCCAAATGAGTGGCCTCTGTGCAGGGCCTACGGGCACAGCACGGGGAGCTGGGTATGGTCAGAGCCTCCTGCCCCTGCCCGTGGGGGAGCCAGCCCCCTCCATCCCCCCTCTGCTCTCCTGCTGGCCTCGAAGCCTTGAACAAGGGCCGGCCTGGGCCAGGTAAGGAGCTCCCTGCCCCTCAGCTCCTGCTTCTCCTGGAGCAGCCAAAACTCACTTCAGTGGGGGACATGGGGACAGGAAAGATGCAAGACCCCTGGAAGACACCTGCTTGGGCCCCCAAGAACTGCAGACCACCAGGGGTCCTCCCACTCTACCTGGTGTGCCACGATGCCCCTAACCTGCGCTGCCAGCTCTCTGTGTCCCTTTGATCCCTCACCTGGTGACAGTGGCAGGGCAGCTCAGGGCCCAGAGGGCCTGGCAGCCCCCCGGGGTTCTGACCTGAGCTGAGCTGCTCCGCCTGGGGAGGCTGCAAACAAGGGTGTCTTCTTAGGCCTCCTGGTCACTCCACCCTCACCCCTCAACAGCCTGAGGGTCTGAGACGGGGGTCTCTGGGGCTGGACCCTGAAGGAAGATTGAGCAGCCGGCCTCGGCAAAGACCCTGGGGACGGGGAGGGGAGCTGGGGAGTTGGGAGGGGTTGCAGGGGTGTGGCGGGGCTTCAGAGCAGGGGGAGGGCCTCCATCCTGGCTCTTGGGGGATCAGGGAGGAGTGGTGCGCGCCTGTCCCTGAGCTGGCCATGACAGCTCCCGTCCCCCTTACCTCCTGCCAGGCCCCGGGGCCGCTTTGGAGGGAGCCCCGCCCCCTGCCCCTGCGCAGCCCCCGCCCTAGCCCCAGCCCGGCGCAGCCGGTCCCGCGCGCCCCCGCCCGCATGTGCCGCCAGGCCCGCCCCCGCCCGGCCGCCCGCCCGCCCGGTGGGTCGCGGTGGCCGCGGGCTGCGCTGCGCGGGCCGGGCCTGGCGGGCCGGGGGCTGCGCGCGTCCGCGAGGGCGCCCGACGCGGGCTGAGGGGCGCTGGCGTGTGCCCGCAGGCGGCCCTGCGCGGGGGACGGCGCGCTCCTGGACACCGCCGGCTTCAAGATGAGCGACCTGGACTCCGAGGTGCTGCCCTTGCCGCCGCGCTACCGCTTCCGGGACCTGCTGCTGGGCGACCCGTCCTTCCAGAACGACGACAGGTAGGGACCGGGCGCGGGGTGGGGGCTGGGGTCGCCGTCCCGGCGCCGCCGCACGCCCGGAGCTGTCCGCGGTGCTGACGGCCGGTCCCGCGCGCCCCCGCAGCCGCCGGCGCCCTTCAACTTTTCCCGGCTTCTGGGGACGCAGAAGTTTCGGAGGGGGTGCGGGCAGGGGGAAGCATCTTCTCGGGAGGGGGTCTCCGGAGGAGGGCGCGGGATGCTCGGAGCTGCGGAGTCTTCCAGAGCCCGACTTGGGGCGCGGAGGCGGAGGGCGGCCTGGCCTTCCGGTGTCTGCTCCCAACCCCCAGCACCCCAGTTTTTCTGGTTTTGGGGGCAAGCCAGGGCCGGAAGCGCCCCGGTGGCGGAGCCCGCAGCCTGGCTGAGGGCTGGCGTCCTCCAGGCTCAGGCAGCGGTCCTTGATTAATTATTCAATGAGGGAGCTTGTCCTTCAGGTTCGTGACCTGGTCACTTATTCCGAGTCACCGTGTCCCCGTCCCCTCAACATCTCCTGGGCTAAAAAGGCAAAATGAATTGTGTCTTTCAGTTAAGGACCAACAGGATGAGCCCATGGGAATAATTCATCCGCTGAGGGGGCTGGCAGGAAGCTGGAAGAAATGTTGCTTTTCTCTCCTCCTTTTCCCCAAATAGCTGTCTTGGGTAAACACCCAGCACTTTAGCTCTGCCAGGCTCTGGGGAGGCGCTTTTTTGCCTGCAAGTGAAGGCAAGTGCTCTGAGGACTCACGCGGAGCTGGAGCCCGCGGGGGCTTCAGGTCAGGAACCGCTCCTCTTCCAGCGTGTAGGGTACGGCAGGGTCGGGGTTGTCACTGTCTCCAGGGCTCCGTCACCACCCAGCCCTGGGCTCAGCTAGCAAATCCGCACTTTCCCCCAACAACGCAGTTATTCCGGTTAGCACACAAAGTACACGAGGTTGAAAATGGTCAGGACACAAACAGCTTTCAGAATAATCTACTGCTGAAACCGCAGCTGAAAAAGAAATCATGTTTGTAACTAGAGTCAGTCCTAGGGACTGTATCCATGAGGACCATGAAGATTTGTAAAAAGGGGGTCTTAAAACCCCTCTGCCTGCGGGGAATGGAATATTCTACCAGACCTCCCATAACATTTGGTTGTGTGAACCAAGAGTCAGGAGTGGGGACTGAGCCCAGTCTTCATCCACTCAGAATCAGGGAGTGAGCGTCCTGCAGAGAGGCCTTTTAAACTTGGTTTTTCATCTTGTTGAACTCAGTGCTCTAATAATGAGCCCACCTAAGTGCAAATGCCCAGGTGAAGAGTTTAGTTTATCTCCCTGTGTGGGCAGAGGGCAGTCAGCCAGGCTGGTCCCAGGGCGGCGTGCGTGGCTGGGAGGCTCTCCTGGGAGCCACACAAAGCTTCCCTAGGCCGAATCCGTGGACTCAACATCTTTCTAAGCCAGCACCAGCCCCTCAGATGCCTGTTCAGCTGGGACTTGGTTAATTCTTGAAAACGGCAGCCCTGGGAGATCCTTCCGATATTGGGCAGGAAGTGGTGTCCATCCGCCTAATGGTGCCTGGGGCTCCCAGATGACTCGATAACGCCTGTGGCTGTGGTTGATCAAATTGTAATGCTGTATTCCTGAGTGTTCAGGAGTGGACAGCAGAGGCTTTTGCTGTCCGCCTAGAGAGAACCATGCCCATCCCTGGGAGAGGAGAAGCTGGCATGGGATTTCACAATGAGTCCCTGATCCTGGGTGTGGTTTTTTAAAATTGTGGTAAAATACATAAAACAGAATTTACCGTTAGTGACATTTAGTACACAACACTGTGCCACCCTCACCACTGTAATTCGAGAACATTTGTATACCCTAGAAGGAATCTCCTTAACCACTGGGACTCACTCCCCAATGCCCCCTTATCCCCCAGCCCCTGGCAGCTACCGATTTGCATTCTAGCGGTCTTGGCGTGCTGTGCCCACTGGGCACATGGGTTGTGTGCCGATGGTATTAGGAGGTGGACCGCTGGACGTGTGTGGCTGTGTGTGCTAGCTAGTGCGTGGCTGTGGGTCCTCTCCAGGAAAGGCCCATGGGGTA | GTAGCCCCGGCCCTCAGTCCCAGCCCTCAGCCAACACAACAGCCAAGGATTTTAGCCCCGGCCCTCAGCCAACACAACAGCGAAGTATTTTCAAGGTTTCTGGCTCTGTGGGGGGAACAAGGCAGGATGCCAGGAGGCCTGCAGGACACCTGCTTATGGCCGTGTGCTCGCTCAAGTGTCAAAGCAGCTTCCCAAGGGAAGAAGGGCATCTTGTCCTTGTCACCCTCCCCAGGCCACATCTGGGGAGCAGGGGTGGGGCCAGGTCTCTGGACTCCTGGTGCACTTCCTTCCCCTGGTGACTCCTGAAGCAAGCCAAGGTCCAAGCCCCTGAGCTTGTCCATGGGCCCTGCCAAGACTGGGCCTTGAGGCCAGGAGGAGGAACCAGAGCCGCTCAAAAGGCAGACGGGGTGGGGACGGGAGGAGGCAGCCACGCCTGAGGAGCCGGCAGTCTCTTGGGGTTTTGCCATTGAAAGGGGCTTTCAGTGAGGAAGGCACAAAATCAAGAAAATAGAGCCCCGACCCCTGGCCACGTGGTTCCCCTGCCTGCCTGCACCTCCCCATGGCCCAGCCAGCTTGTGACTAAGGAAAAACATGCAGCTACGCTGATGCAGTTAGGAAAATGTTATTTTTTAAATGCTGCCAGATCCTGGGGGTTGAACCTGTGACCTCAGAACAAGGAGCAGGGTTTGGGGCACGCACCTGCTGCCTGCAGCTTCAGCCTGGGGTGCCCATAGCTCCTTGCCTGCTGCTTGTCTGAGGGTTAGGGGACACAGGAGAGGCACTTGGTGGGGGCTCAAGGAATGTGCCCACCCCTCCCGACTTGAGGAGAGAGAGGAGAGTTTTGTAGCATCCCTGGACCTGGTGTTCCAAATGAGTGGCCTCTGTGCAGGGCCTACGGGCACAGCACGGGGAGCTGGGTATGGTCAGAGCCTCCTGCCCCTGCCCGTGGGGGAGCCAGCCCCCTCCATCCCCCCTCTGCTCTCCTGCTGGCCTCGAAGCCTTGAACAAGGGCCGGCCTGGGCCAGGTAAGGAGCTCCCTGCCCCTCAGCTCCTGCTTCTCCTGGAGCAGCCAAAACTCACTTCAGTGGGGGACATGGGGACAGGAAAGATGCAAGACCCCTGGAAGACACCTGCTTGGGCCCCCAAGAACTGCAGACCACCAGGGGTCCTCCCACTCTACCTGGTGTGCCACGATGCCCCTAACCTGCGCTGCCAGCTCTCTGTGTCCCTTTGATCCCTCACCTGGTGACAGTGGCAGGGCAGCTCAGGGCCCAGAGGGCCTGGCAGCCCCCCGGGGTTCTGACCTGAGCTGAGCTGCTCCGCCTGGGGAGGCTGCAAACAAGGGTGTCTTCTTAGGCCTCCTGGTCACTCCACCCTCACCCCTCAACAGCCTGAGGGTCTGAGACGGGGGTCTCTGGGGCTGGACCCTGAAGGAAGATTGAGCAGCCGGCCTCGGCAAAGACCCTGGGGACGGGGAGGGGAGCTGGGGAGTTGGGAGGGGTTGCAGGGGTGTGGCGGGGCTTCAGAGCAGGGGGAGGGCCTCCATCCTGGCTCTTGGGGGATCAGGGAGGAGTGGTGCGCGCCTGTCCCTGAGCTGGCCATGACAGCTCCCGTCCCCCTTACCTCCTGCCAGGCCCCGGGGCCGCTTTGGAGGGAGCCCCGCCCCCTGCCCCTGCGCAGCCCCCGCCCTAGCCCCAGCCCGGCGCAGCCGGTCCCGCGCGCCCCCGCCCGCATGTGCCGCCAGGCCCGCCCCCGCCCGGCCGCCCGCCCGCCCGGTGGGTCGCGGTGGCCGCGGGCTGCGCTGCGCGGGCCGGGCCTGGCGGGCCGGGGGCTGCGCGCGTCCGCGAGGGCGCCCGACGCGGGCTGAGGGGCGCTGGCGTGTGCCCGCAGGCGGCCCTGCGCGGGGGACGGCGCGCTCCTGGACACCGCCGGCTTCAAGATGAGCGACCTGGACTCCGAGGTGCTGCCCTTGCCGCCGCGCTACCGCTTCCGGGACCTGCTGCTGGGCGACCCGTCCTTCCAGAACGACGACAGGTAGGGACCGGGCGCGGGGGGTGGGGGCTGGGGTCGCCGTCCCGGCGCCGCCGCACGCCCGGAGCTGTCCGCGGTGCTGACGGCCGGTCCCGCGCGCCCCCGCAGCCGCCGGCGCCCTTCAACTTTTCCCGGCTTCTGGGGACGCAGAAGTTTCGGAGGGGGTGCGGGCAGGGGGAAGCATCTTCTCGGGAGGGGGTCTCCGGAGGAGGGCGCGGGATGCTCGGAGCTGCGGAGTCTTCCAGAGCCCGACTTGGGGCGCGGAGGCGGAGGGCGGCCTGGCCTTCCGGTGTCTGCTCCCAACCCCCAGCACCCCAGTTTTTCTGGTTTTGGGGGCAAGCCAGGGCCGGAAGCGCCCCGGTGGCGGAGCCCGCAGCCTGGCTGAGGGCTGGCGTCCTCCAGGCTCAGGCAGCGGTCCTTGATTAATTATTCAATGAGGGAGCTTGTCCTTCAGGTTCGTGACCTGGTCACTTATTCCGAGTCACCGTGTCCCCGTCCCCTCAACATCTCCTGGGCTAAAAAGGCAAAATGAATTGTGTCTTTCAGTTAAGGACCAACAGGATGAGCCCATGGGAATAATTCATCCGCTGAGGGGGCTGGCAGGAAGCTGGAAGAAATGTTGCTTTTCTCTCCTCCTTTTCCCCAAATAGCTGTCTTGGGTAAACACCCAGCACTTTAGCTCTGCCAGGCTCTGGGGAGGCGCTTTTTTGCCTGCAAGTGAAGGCAAGTGCTCTGAGGACTCACGCGGAGCTGGAGCCCGCGGGGGCTTCAGGTCAGGAACCGCTCCTCTTCCAGCGTGTAGGGTACGGCAGGGTCGGGGTTGTCACTGTCTCCAGGGCTCCGTCACCACCCAGCCCTGGGCTCAGCTAGCAAATCCGCACTTTCCCCCAACAACGCAGTTATTCCGGTTAGCACACAAAGTACACGAGGTTGAAAATGGTCAGGACACAAACAGCTTTCAGAATAATCTACTGCTGAAACCGCAGCTGAAAAAGAAATCATGTTTGTAACTAGAGTCAGTCCTAGGGACTGTATCCATGAGGACCATGAAGATTTGTAAAAAGGGGGTCTTAAAACCCCTCTGCCTGCGGGGAATGGAATATTCTACCAGACCTCCCATAACATTTGGTTGTGTGAACCAAGAGTCAGGAGTGGGGACTGAGCCCAGTCTTCATCCACTCAGAATCAGGGAGTGAGCGTCCTGCAGAGAGGCCTTTTAAACTTGGTTTTTCATCTTGTTGAACTCAGTGCTCTAATAATGAGCCCACCTAAGTGCAAATGCCCAGGTGAAGAGTTTAGTTTATCTCCCTGTGTGGGCAGAGGGCAGTCAGCCAGGCTGGTCCCAGGGCGGCGTGCGTGGCTGGGAGGCTCTCCTGGGAGCCACACAAAGCTTCCCTAGGCCGAATCCGTGGACTCAACATCTTTCTAAGCCAGCACCAGCCCCTCAGATGCCTGTTCAGCTGGGACTTGGTTAATTCTTGAAAACGGCAGCCCTGGGAGATCCTTCCGATATTGGGCAGGAAGTGGTGTCCATCCGCCTAATGGTGCCTGGGGCTCCCAGATGACTCGATAACGCCTGTGGCTGTGGTTGATCAAATTGTAATGCTGTATTCCTGAGTGTTCAGGAGTGGACAGCAGAGGCTTTTGCTGTCCGCCTAGAGAGAACCATGCCCATCCCTGGGAGAGGAGAAGCTGGCATGGGATTTCACAATGAGTCCCTGATCCTGGGTGTGGTTTTTTAAAATTGTGGTAAAATACATAAAACAGAATTTACCGTTAGTGACATTTAGTACACAACACTGTGCCACCCTCACCACTGTAATTCGAGAACATTTGTATACCCTAGAAGGAATCTCCTTAACCACTGGGACTCACTCCCCAATGCCCCCTTATCCCCCAGCCCCTGGCAGCTACCGATTTGCATTCTAGCGGTCTTGGCGTGCTGTGCCCACTGGGCACATGGGTTGTGTGCCGATGGTATTAGGAGGTGGACCGCTGGACGTGTGTGGCTGTGTGTGCTAGCTAGTGCGTGGCTGTGGGTCCTCTCCAGGAAAGGCCCATGGGG | benign | 154,572 |
Evaluate if the mutation on chromosome 9 at position 135750081 in KCNT1 (potassium sodium-activated channel subfamily T member 1) is benign or pathogenic. Disease name(s) if pathogenic? | benign | CTAAGTTCAAACGATTCTCCTGCCTCAGCCTCCCCAGAAGCTGGGACTACAGGCACGTGCCGCCATGCCTGGCTACTTTTTATTGAGACGGGGGTCTTGCTATGTTGTCTAGGCTGGTCTCAAACTCCCGGCCTCAAGCGATCCTCCCACCTCTGCCTCCCAAGTTCCTGGGATTATGGGCACGAGCCACTGTGACCGGCCCCTGGCCCCTTCTTGAGCTCTGTAACCAGCAGAGGCCACTGGGGCAGATCAAGGCAGGTGCTGGGACTCTACCAAGGCCCCTCCCGCCCGCCCCACAGCAGCCCCACCACGAAGGCTGCTGCACACACCTGGTCCACACCACTTACCCTGAGTGTTGTGAGCTTTGGGAAACATCGAATGTTTTAATCACTTTCGGAGATGTTGGGGTCACCAGCCCCAGGCCAGGCAGTGACATCAAATTCTCAGATTCGATTGATAGGAGCCAGTGCCTGCTCAGAGGGGAGGTGAGGCTCACAGCCCACCCACTGGGTGTCACAGCCTCCTGCCCTGGTGGACAGTGACAAGGAAGGGGTTGAGGCAGGAACAGGGGTTAGGCTGGTGCTTACCTCCCCCGACTTCTGGACAGCTGCCCTGGGACCTCTGCTTGAACACTGCCTCCTCCACGCAGCCGTCCAGGATCCTTCCAGGCAGCACAAGTCTTCCTCCAGGCTCCGCTGTCTGTCTGCCCTACTGTGTTGTGGCCCTCGCGCTGCACTGGGCAGGGGGCCCATGCTGAGGAGCTCACTGGACTGCGTGTTCTGCCCCCACACCATCCCTGAGGGAGGCGGGGCACCTCTCTTTGACCCCAGGGAGCAAGGCCAGGCACCGGAGGCAGCGCCCGAGGGCTAAGGCAGCCGACTGATAGGAGCAGACGTCATGGAGGGCACAGGGCCATGGCTGGGAGCAGCCGAGGGTCCCATGGAGGACAGCCCAGCACCCCAGGGCACGGGCCGTTTAGGGGGACATGTGCTCCCCCTTCCCAGAGACGGCCATGCCTGCTGCAGGAACCCTGGCTCTGGGTCTTGCTCCTGTCTGTCCTGCAGGCTGGCAGCATTGGAGTTTTCCTCTCAGGGGATCATTAAACCCTGGCCTAGCCTGGCCCGCATCCCAGCACAGCCGGGCACAGGAGACCCTGCGTCCAAGGCTGGGGCAGTGGGGGCAGCAGCCGTCCACCCCCAGGCTCCATCCTACTCTTGGTGGCCAGCCTGGGTCATGCAGGTGGCCACGGTAGGTGAGCCACGCAATCTCCCCACCCCACCTCACCCCACCTGCCACCCCCGGCAACTGGCACACTGTGGTCTCTTCTCAGGACCGCCGGGGCCCGGTTGGAGGCCAGAGGGCTGGGTGGTAGGCCCCATGAGCAGCGGCGTGCATGGGGGTTGAGGGGTGTCTGGGAACCAGTGGCTGGGGCCATAGGTGAGCCTGAGGGAAGGGGAGCGGCACTGGCTGGAGGGGCCCCACAGCTGGCCTGCGAGGTGGGTGCAGGGATGACCACTTCCCACCAGCCCATCTTCCCTGACAGCCCTTGAGGCTGCAGTGGCCCATAGCCTTGGAGCACAGCCACCAGCGGCCTCCAGACAGAGCAGCTGACCATCAGCTGTGGACAGCCTGTATGACGCAGGTCCTACGGCATGTTCTGAGCACTTGCGGTGTCCTGAGCACCATCCCCAGGGCCATATGGGCAACTTTACCTCCTGGCAGGTGCCCTGCACCCACGGAGGCTTGGGCGAGGGTGTGTGGAGTGAGTGCCGCACCCTGAGCCCCAACAGGGCGGCCTGGAGGGCCCAGACTCACAGCAGCGAGTGCCCAGGGCTGCGGGGAGGAATCTTCAGAGGAGCCGAGGCTGGGTCGGCTGTCTGCTGGGTGTGACGGACCCCAGGACCCTCCTGGGTCTGAGGTGGAGGGAGTGGTCCTGCTGGGCCCTGACTTCTCAACTCCTGCAGTTGGAAAGTTGGAAGAAGTCAGTCAGGTTGGGGCTCCCGGCGTGTCCCCAGCCTGAGTCCCCACTGGCCCTGAGCCTCCATGCCCCTCTCTGCTTCTTCAGGGTCCAGGTGGAGTTCTACGTCAACGAGAACACCTTCAAGGAGCGGCTCAAGCTGTTCTTCATCAAAAACCAAAGATCGAGTGAGTGGGGTGCCTGGAGGGCCACTCCCAGGCAGGGAGGTGTTGAGGGCGCCGGGAGCAAGCCTGGCGATGGCGAAGGCTGGGGCTGTGAGCTCAGGGAGAGTCCATGGGGTGGGAGCCACCTGAGTGCTGCGGGGGCATTTGGAAGCAGGGTGGGGGTGGGTCTGCATGGTGAGTGGGGCACAGGGTAGCCCCCTCTTAGCTTCACACTGTCTGAGACCAGGGCCTCTGCAGCGGGACTCGTGGGGACACCGTCCTGCCTGCTGGACACCAGGCTGGGTGGGGCAGGACCATCCATAGGTGCCAGCAAGGTCTCCCCTGTGGCCACGCCCTGCCTCCCACCCCTCCATACAGCCCCACCCTCCCCAACAGCTCCCTGCCCCGTTCCCAGCCAGAGCTTGGCATCATGCTCCCCCCGGGATTGCAGGTGAGGACTTGGGGGGTTTCCCCAGGGGCTCCACATTCACCTGCCTGCTCCCCAATCCCTATCCTGTCCTCCAAGAAGTGGAGTGGCCTCTAGAAATCCCCTGCACCCCAAGTTCAGGCACCTGTAAGGTGGGGCCAGGGACAGAGCCTCTTGGAGGCTGACCCAAGAGCATCAGCCCCCAAACAACGCAGGGCACACAGAGCTCTGCGTGCAGCCCGGGTGTGGGAGGGGAGCCCAGCTGGGGCCATCCAGAGAGCCCAGCCAGACCCGGGTGCAGGCCCTGCTCCCCGAAGCCCAGAGCTGGGTCAGAGCCCTGAGGCCGCTGCCCTCCCCGCAGGCCTGAGGATCCGGCTGTTCAACTTCTCCCTGAAGCTGCTCACCTGCCTGCTCTACATTGTGCGCGTCCTGCTCGATGACCCGGCCCTGGGCATCGGATGGTGGGCCACGTGCGCGGCCGGGCGCGGGGTCCCGGGTCCCAGGGCTGAGCCTTCCCACTGGGCCGTTACAGAAGCTGATGGCGTCCCTGGGGGAGCCCCTGTGCCTGGGGCCTTGGGGAGTCCTTCCTTCCCCAGTGCCTGTCCCAGGATGGAAAAAGCCAAGGACTCAGTGCCCAGGCTCCCGCAGACGGCTCAGCGTAGGGAGAAGGGTCCCCATCGTAGACTTCCAGCTGTGCCCTTAGCTACTAGCGGACCCAGAAGGTCCACGGAAAGGCTGGAGCATCTAGGATGTCCCTCCCTGCCCCCACAAGTGTCTCTGTGCTCACTTGAGCTTCTGCAGGTCAGGGAAGGGGGCGCCCAGTCCCCCTGGGGAAAGCCCCTACCTGTTTCTGGGGGTGTCTTCTACCCCTCCTGGGTCCCAAGGAGTCCCCTCCCCAGGGCCCATCGTCCTGGGGCCCATGCTCCAGGGACTTCTGGGAGAGGTGCTGGGGGCAGCAATCTGCACCGTCAGGTCCTTACCAGCCTCGCAGCAGCCGCGATGAGGGTGGGTGGGAACTTGCTCTCTCTGAGTCCTGTTCTGTCTCCTTCTGCTGTTGCTGCTTCGAGAAGTGGCGGCTGCTGGGACCTACTCTGTGCCCAGCGTGCCTTGGCAACTCCTGCTCACCTCTGTGTGGGTCCCAGGGGACATCAGCAGGGCCCTGCGGCCCTCGGTGCCGGCCTGTCCTGAGTCATGTCTTTGGGGACCAGCCCCCAACCCCAGGCCTCTCTCTCTGGCTCCCTGGCACTCGGATGCTGTGCTCTGTGTCCTGTTTCTTCTCTCCCCTCTCCTGCCTCGTTCCCTTGTTCACTCGTCCACTTGTTCTGTCCTGCCTCCTGGTTTCCAGAAATCCTTTCTCTGAATGTCCTTCCGAAGATGGTGTCTCCAGTCCTTTCCTGTTTTACGCTTTCCCCATCTGCTGGGCCTGTTTCTCCCGAGCTCACATTGGGCCCTGACTTTTTCATACCCGTAGATTTCCTCAAATGTCTGGTGCCGTTTATGCGTAAGAGTGCTCAGGCGCTGAGGGGCTCTGCAGCCACGTGTGTGGTG | CTAAGTTCAAACGATTCTCCTGCCTCAGCCTCCCCAGAAGCTGGGACTACAGGCACGTGCCGCCATGCCTGGCTACTTTTTATTGAGACGGGGGTCTTGCTATGTTGTCTAGGCTGGTCTCAAACTCCCGGCCTCAAGCGATCCTCCCACCTCTGCCTCCCAAGTTCCTGGGATTATGGGCACGAGCCACTGTGACCGGCCCCTGGCCCCTTCTTGAGCTCTGTAACCAGCAGAGGCCACTGGGGCAGATCAAGGCAGGTGCTGGGACTCTACCAAGGCCCCTCCCGCCCGCCCCACAGCAGCCCCACCACGAAGGCTGCTGCACACACCTGGTCCACACCACTTACCCTGAGTGTTGTGAGCTTTGGGAAACATCGAATGTTTTAATCACTTTCGGAGATGTTGGGGTCACCAGCCCCAGGCCAGGCAGTGACATCAAATTCTCAGATTCGATTGATAGGAGCCAGTGCCTGCTCAGAGGGGAGGTGAGGCTCACAGCCCACCCACTGGGTGTCACAGCCTCCTGCCCTGGTGGACAGTGACAAGGAAGGGGTTGAGGCAGGAACAGGGGTTAGGCTGGTGCTTACCTCCCCCGACTTCTGGACAGCTGCCCTGGGACCTCTGCTTGAACACTGCCTCCTCCACGCAGCCGTCCAGGATCCTTCCAGGCAGCACAAGTCTTCCTCCAGGCTCCGCTGTCTGTCTGCCCTACTGTGTTGTGGCCCTCGCGCTGCACTGGGCAGGGGGCCCATGCTGAGGAGCTCACTGGACTGCGTGTTCTGCCCCCACACCATCCCTGAGGGAGGCGGGGCACCTCTCTTTGACCCCAGGGAGCAAGGCCAGGCACCGGAGGCAGCGCCCGAGGGCTAAGGCAGCCGACTGATAGGAGCAGACGTCATGGAGGGCACAGGGCCATGGCTGGGAGCAGCCGAGGGTCCCATGGAGGACAGCCCAGCACCCCAGGGCACGGGCCGTTTAGGGGGACATGTGCTCCCCCTTCCCAGAGACGGCCATGCCTGCTGCAGGAACCCTGGCTCTGGGTCTTGCTCCTGTCTGTCCTGCAGGCTGGCAGCATTGGAGTTTTCCTCTCAGGGGATCATTAAACCCTGGCCTAGCCTGGCCCGCATCCCAGCACAGCCGGGCACAGGAGACCCTGCGTCCAAGGCTGGGGCAGTGGGGGCAGCAGCCGTCCACCCCCAGGCTCCATCCTACTCTTGGTGGCCAGCCTGGGTCATGCAGGTGGCCACGGTAGGTGAGCCACGCAATCTCCCCACCCCACCTCACCCCACCTGCCACCCCCGGCAACTGGCACACTGTGGTCTCTTCTCAGGACCGCCGGGGCCCGGTTGGAGGCCAGAGGGCTGGGTGGTAGGCCCCATGAGCAGCGGCGTGCATGGGGGTTGAGGGGTGTCTGGGAACCAGTGGCTGGGGCCATAGGTGAGCCTGAGGGAAGGGGAGCGGCACTGGCTGGAGGGGCCCCACAGCTGGCCTGCGAGGTGGGTGCAGGGATGACCACTTCCCACCAGCCCATCTTCCCTGACAGCCCTTGAGGCTGCAGTGGCCCATAGCCTTGGAGCACAGCCACCAGCGGCCTCCAGACAGAGCAGCTGACCATCAGCTGTGGACAGCCTGTATGACGCAGGTCCTACGGCATGTTCTGAGCACTTGCGGTGTCCTGAGCACCATCCCCAGGGCCATATGGGCAACTTTACCTCCTGGCAGGTGCCCTGCACCCACGGAGGCTTGGGCGAGGGTGTGTGGAGTGAGTGCCGCACCCTGAGCCCCAACAGGGCGGCCTGGAGGGCCCAGACTCACAGCAGCGAGTGCCCAGGGCTGCGGGGAGGAATCTTCAGAGGAGCCGAGGCTGGGTCGGCTGTCTGCTGGGTGTGACGGACCCCAGGACCCTCCTGGGTCTGAGGTGGAGGGAGTGGTCCTGCTGGGCCCTGACTTCTCAACTCCTGCAGTTGGAAAGTTGGAAGAAGTCAGTCAGGTTGGGGCTCCCGGCGTGTCCCCAGCCTGAGTCCCCACTGGCCCTGAGCCTCCATGCCCCTCTGCTTCTTCAGGGTCCAGGTGGAGTTCTACGTCAACGAGAACACCTTCAAGGAGCGGCTCAAGCTGTTCTTCATCAAAAACCAAAGATCGAGTGAGTGGGGTGCCTGGAGGGCCACTCCCAGGCAGGGAGGTGTTGAGGGCGCCGGGAGCAAGCCTGGCGATGGCGAAGGCTGGGGCTGTGAGCTCAGGGAGAGTCCATGGGGTGGGAGCCACCTGAGTGCTGCGGGGGCATTTGGAAGCAGGGTGGGGGTGGGTCTGCATGGTGAGTGGGGCACAGGGTAGCCCCCTCTTAGCTTCACACTGTCTGAGACCAGGGCCTCTGCAGCGGGACTCGTGGGGACACCGTCCTGCCTGCTGGACACCAGGCTGGGTGGGGCAGGACCATCCATAGGTGCCAGCAAGGTCTCCCCTGTGGCCACGCCCTGCCTCCCACCCCTCCATACAGCCCCACCCTCCCCAACAGCTCCCTGCCCCGTTCCCAGCCAGAGCTTGGCATCATGCTCCCCCCGGGATTGCAGGTGAGGACTTGGGGGGTTTCCCCAGGGGCTCCACATTCACCTGCCTGCTCCCCAATCCCTATCCTGTCCTCCAAGAAGTGGAGTGGCCTCTAGAAATCCCCTGCACCCCAAGTTCAGGCACCTGTAAGGTGGGGCCAGGGACAGAGCCTCTTGGAGGCTGACCCAAGAGCATCAGCCCCCAAACAACGCAGGGCACACAGAGCTCTGCGTGCAGCCCGGGTGTGGGAGGGGAGCCCAGCTGGGGCCATCCAGAGAGCCCAGCCAGACCCGGGTGCAGGCCCTGCTCCCCGAAGCCCAGAGCTGGGTCAGAGCCCTGAGGCCGCTGCCCTCCCCGCAGGCCTGAGGATCCGGCTGTTCAACTTCTCCCTGAAGCTGCTCACCTGCCTGCTCTACATTGTGCGCGTCCTGCTCGATGACCCGGCCCTGGGCATCGGATGGTGGGCCACGTGCGCGGCCGGGCGCGGGGTCCCGGGTCCCAGGGCTGAGCCTTCCCACTGGGCCGTTACAGAAGCTGATGGCGTCCCTGGGGGAGCCCCTGTGCCTGGGGCCTTGGGGAGTCCTTCCTTCCCCAGTGCCTGTCCCAGGATGGAAAAAGCCAAGGACTCAGTGCCCAGGCTCCCGCAGACGGCTCAGCGTAGGGAGAAGGGTCCCCATCGTAGACTTCCAGCTGTGCCCTTAGCTACTAGCGGACCCAGAAGGTCCACGGAAAGGCTGGAGCATCTAGGATGTCCCTCCCTGCCCCCACAAGTGTCTCTGTGCTCACTTGAGCTTCTGCAGGTCAGGGAAGGGGGCGCCCAGTCCCCCTGGGGAAAGCCCCTACCTGTTTCTGGGGGTGTCTTCTACCCCTCCTGGGTCCCAAGGAGTCCCCTCCCCAGGGCCCATCGTCCTGGGGCCCATGCTCCAGGGACTTCTGGGAGAGGTGCTGGGGGCAGCAATCTGCACCGTCAGGTCCTTACCAGCCTCGCAGCAGCCGCGATGAGGGTGGGTGGGAACTTGCTCTCTCTGAGTCCTGTTCTGTCTCCTTCTGCTGTTGCTGCTTCGAGAAGTGGCGGCTGCTGGGACCTACTCTGTGCCCAGCGTGCCTTGGCAACTCCTGCTCACCTCTGTGTGGGTCCCAGGGGACATCAGCAGGGCCCTGCGGCCCTCGGTGCCGGCCTGTCCTGAGTCATGTCTTTGGGGACCAGCCCCCAACCCCAGGCCTCTCTCTCTGGCTCCCTGGCACTCGGATGCTGTGCTCTGTGTCCTGTTTCTTCTCTCCCCTCTCCTGCCTCGTTCCCTTGTTCACTCGTCCACTTGTTCTGTCCTGCCTCCTGGTTTCCAGAAATCCTTTCTCTGAATGTCCTTCCGAAGATGGTGTCTCCAGTCCTTTCCTGTTTTACGCTTTCCCCATCTGCTGGGCCTGTTTCTCCCGAGCTCACATTGGGCCCTGACTTTTTCATACCCGTAGATTTCCTCAAATGTCTGGTGCCGTTTATGCGTAAGAGTGCTCAGGCGCTGAGGGGCTCTGCAGCCACGTGTGTGGTGNN | benign | 154,576 |
Does the variant on chromosome 9 at location 135757001 affecting gene KCNT1 (potassium sodium-activated channel subfamily T member 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | CTCCTTATGGTCCCCTCCAAAGGCAAGGTAGGCTCCTTTGGTCCAGCCCCAATGAGCAGCACATGCTTGGGGCCAGTGGAGGCCAATGGTTATGGCCCCAGCCCCAGGGTGGCTGGGGGACACTAGTGGCTGTGGTGCCCTACTGTGCTGCCTCCTTTCTCTTCCCAGGGCTCCTATTCTGTGGGTGGAGAGAAAGATGACACTGTGGGCGATCCAGGTGAGTGCCCTACCCTGCCCCCCTCCCGACTGCAGTGGTGCTCAGTAAGCACTGAGGACCAACCCAGACTCAGTAAGTAGGGAACCCAGGCTCGGTGAGCACTGAGGACATACCCAGTCTCAGTAAATGCTAAGAACAAACCCAGGCTCAGTGAGCACTGAGGACAGACCCAGGCTCAGTAAGCAGGGGACCCAGGCTCAGCAAATGCTGAGGACAAACCCAGGCTCAGTAAACAGGTGACTCCAACTCAGTGAGCACTGAGGACAAACCCAGCATTTACTGACCCAGGCTCAGTAAATGCTGAGGACAAACCCAGGATCAGTAAACAGGGACCCAGGCTCAGTGAGCACTGAGTACAGACCCAGGCTTAGTAAGTAGGGGACCCAGGCTCGGTGAGCACTGGGGACAAACTCAGGCTCAGTAGGCAGGGGACCCAGGCTCAGTGAGCACTGAGGACAGACCCAGGCTCAGTAAGCAGGGAAACCAGGCTCAGTAAATGCTGAGGACAAACCCAGGCTCAGTAAATAGGGAAACCAGGCCCAGTGAATGCTGAGGACAAACCAAGACTCAGTAAACAGGTGACTCAGGGTCAGTGAGCACTTAGGACAGACCCAGCATTTACTGACTCAGGCTCAGTAAATGCTGAGGACAAATCCAGGCTCAGTAAATGCTGAGGACAAACCCAGGCTCAGTGAGCACTGAGGACAGTCCCAGGCTCAGTAAGCATGGGACCCAGGCTCAGTGAATGCCAAGGACAAAGCCAGGCTCAGTAAAACAGGTGACTCAGGCTCAGTGGGCACTGAGGACAAACCCAGCATTTACTGACCCAGGGTCAGTAAATGCTGAGGACAAACCCAGGATCAGTAAACAGGGGACCCAGGCTCAGTGAGCACTGAGGACAGACCCAGGCTCAGTAAGCAGGGAAACCAGACTTTAGTGAATGCTGAAGACAGACAGGCTCAGTAAGTAGGGAACCCAGGCTCAGTGAATGCTGAAGACAAACTCAGGCTCAGTAAGCAGGGGTCCCAGGTTCAGTGAGTGCTGAGGACCGACCCAGGCTCTACTGCTCTCCACACAATTTTCCCAGGGATCCCTGAGGACTTCCTGACCCCCTCTGTCTGCTTCACCACCTGAATCTCTCCCTCCACTGACCCATCTGTGTCCTTGCTGTTTTCCTGGGGTGGAGAGTGCACAGGCCAGGTCCCTGGCTGGCTCCTGGGTGGGTGACCTAGTTCATGACTGGGTCCCATGTCTCCATCTGAGACCAGAGAGGGTCTTTCACACCCACCCCTATCATGTTCCAGAGGGGTCAGTAGATGCCTGTGCTGAGAGGGGTTCCGTGGGGGAAAACCAGGTCCACTGAGCCTCCATCTCCGTTCCCTCCCCACCAGGGCAGCGGGATAGCCGCTCTCTGGTGTCTTCCTGAGCGTCCTGCCTCACCCACTGCACCCTCCATCCCACCCTGGGCCTAGAGTGGGCGGCCCAGGAGGACCATGGTTTCAAGACTCCATCTGCCCTCGGCCCTGGCGGGGGTCAGCCAAAGGCCTTGGTGGCTAAGACTGTCCTGACATGGGAGTGAGGGTCAAGGCAGACCCCAGACACACACCTGGCTTTGTGTGGTACCTGCCCGCGAGGCCTGTGGGGTCAGGCCCCAGCCCCAGCCCCGGCCTGCTCCAGAGCTCCTTCCCTTTCCTGACTCCCAGGTCATCGTGGCCATAATAAGCTTCCTGGAGACGATGCTTCTCATCTACCTCAGCTACAAAGTGAGTGCCTGCCCGGGATGGCACCTCACAGGGGGTCCCCACCCTCCCCACCCTCCCCAGCCTCCCCCACCTCCCCCACCCTCTCCTATTTCCCCACACTTCCCAGCCTCATCCACTGACCTCCAGGGTGGGCTCCTCGCCCTCTTCCCCACCCTGCCCCTCCCCTGCTGGGCCCCACCCCCACCCTCCATCGCCCCCGCTGATACCCCCCGTTTGGCCCCAGGGCAACATCTGGGAGCAGATCTTCCGCGTGTCCTTCGTCCTGGAGATGATCAACACTCTGCCCTTCATCATCACGGTGGGTGAGCCCCAGCTGCCAGGAGTGCGGGCCCTGGAGCCCCAGCCCTGACCTGTCCCCTTCACAGATCTTCTGGCCGCCGCTGCGGAACCTGTTCATCCCCGTCTTTCTGAACTGCTGGCTGGCCAAGCACGCGCTGGAAAACATGATTGTAAGCCGGGGCGGGGGGTGCAGCTGGGACTTGGGGGGGCCACCCTCAGCCTCACCGGCCCTGGAAGACACTGTGCGACGTAGCCTGCCACGCCCCGGCCCTGGCATGACCTGTAGAGGACCGGGAAGCCAGGGCAGCAGAAACTCTGTCTCTGCTCCTGGAAAACATCCAAGCCAAGCCCCGAATGCCCTCCTTCCAGGAAGAAACTCAATCCCAGAGCTTTTCCTAAGCCTGGAAATGAAATGGCTGGCAGGAGGAGGAGGGACAAAGTGAAGGGTGTGACAAACCCAGGCCACGAGGACCAGGGCCACAAACACCAGGCCACACGCAAACTGGGGCCACGGGGCCACAGGCAGGCCCTGTGCTGAGCATCTCAGGAAACCTGGGCCACGGGGCCACAGGCAGGCCCTGCTCTGAGTGTCTCAACATGGTCCCTGTCATGTGAATGGCAGCAGTCAGTTCCCTAGGCGCCCACCCTCTCCAAGCCAGACCCCTTGACTCACAGCCCCCATTCCTGCCCCAGTGGTAAATCAGCGTTACCATGCTGGGTCCAAGCCTTGCACACTAACCAGCCCTCTGACCTGAGACTTAAGCCTCATCCCCGGGGATGTAGGCAAGATGGGGACCCGTCCTGAGAGAGGACAGCAGAGGGGGTGCCCTACCCAGGTGCAGGCTGCCCGTGGGCCTCAGCGGAGACGCAGGTGTGGCCAGGCGTGGGCTGCCCCTTGGGCCTCAGCCGAGACACAGGTGTGGCCGTGGGCTGCCCCGTGGGCCTCAGCCGAGACACAGGTGTGGCCAGGTGCAGGCTGCCCCGTGGGCCTCAGCCGAGACGCAGGTGTGGCCAGGTGCAGGCTGCCCCATGGGCCTCAGCCGAGACACAGGTGTGGCCAGGTACAGGCTGCCCCGTGGGCCTCAGCCGAGACGCAGGTGTGGCCGGGCCGTCTGCTTTCCACTGTCCTTCTAGTCTCTATTCATTGGCTCCTGGCGGGGTCCACAGTCCCTGCCCGCTGACAGCCACCACTCCTTCCACAGAATGACTTCCACCGTGCCATCCTGCGGACACAGTCAGCCATGTTCAACCAGGTCCTCATCCTCTTCTGCACCCTGCTGTGCCTCGTTTTCACGGGGTGAGTGCCGGCCGTCAGTGTGAGCACCCCAGGACGTTGGGAGGGCCCGAGAGGCAAGCAGGGCCGGGCGAGGGGATACAGATGCCTATGTCCAAGCTATCGGGGCAGAAAAGGCCACAGTGCCTGGGCTGCGGGTGTCGGGCCACCAAGCTGGGACTGAGGTCAGGAGGCAGCTCCAAGCCCACGTCCCCAGTACACGAGCAGCCCTGCAGCCCGACTCCTCCAAGGACAGAGATACCCAGATCTGGCTTCCTGGTCTATGCCATGGACGTAGAGAAGGGGACTGGCCCCTAGGCCAGGTGGGGTCTCTTGGCTGAGGCCCAGCTGAAAGCAGGGTCTGGAGGCAGCCAGGGTAAAGGTGGGGGTGCCCAGAGCTGCGAGGGCCTCCAGCCCACCCAGGCATGCCCACTGTGCCCACCTGCCTGTGTCCTCGTGGAGGGCTCCATGTTGCTGCTCTGCCTTGGGTCCCAGCGAGGCCTGGTCACCACTTCCCGTCCCCAGGCAGGGATGTCAGGCAAGCACTGTGCCCTGGGGGAGGGA | CTCCTTATGGTCCCCTCCAAAGGCAAGGTAGGCTCCTTTGGTCCAGCCCCAATGAGCAGCACATGCTTGGGGCCAGTGGAGGCCAATGGTTATGGCCCCAGCCCCAGGGTGGCTGGGGGACACTAGTGGCTGTGGTGCCCTACTGTGCTGCCTCCTTTCTCTTCCCAGGGCTCCTATTCTGTGGGTGGAGAGAAAGATGACACTGTGGGCGATCCAGGTGAGTGCCCTACCCTGCCCCCCTCCCGACTGCAGTGGTGCTCAGTAAGCACTGAGGACCAACCCAGACTCAGTAAGTAGGGAACCCAGGCTCGGTGAGCACTGAGGACATACCCAGTCTCAGTAAATGCTAAGAACAAACCCAGGCTCAGTGAGCACTGAGGACAGACCCAGGCTCAGTAAGCAGGGGACCCAGGCTCAGCAAATGCTGAGGACAAACCCAGGCTCAGTAAACAGGTGACTCCAACTCAGTGAGCACTGAGGACAAACCCAGCATTTACTGACCCAGGCTCAGTAAATGCTGAGGACAAACCCAGGATCAGTAAACAGGGACCCAGGCTCAGTGAGCACTGAGTACAGACCCAGGCTTAGTAAGTAGGGGACCCAGGCTCGGTGAGCACTGGGGACAAACTCAGGCTCAGTAGGCAGGGGACCCAGGCTCAGTGAGCACTGAGGACAGACCCAGGCTCAGTAAGCAGGGAAACCAGGCTCAGTAAATGCTGAGGACAAACCCAGGCTCAGTAAATAGGGAAACCAGGCCCAGTGAATGCTGAGGACAAACCAAGACTCAGTAAACAGGTGACTCAGGGTCAGTGAGCACTTAGGACAGACCCAGCATTTACTGACTCAGGCTCAGTAAATGCTGAGGACAAATCCAGGCTCAGTAAATGCTGAGGACAAACCCAGGCTCAGTGAGCACTGAGGACAGTCCCAGGCTCAGTAAGCATGGGACCCAGGCTCAGTGAATGCCAAGGACAAAGCCAGGCTCAGTAAAACAGGTGACTCAGGCTCAGTGGGCACTGAGGACAAACCCAGCATTTACTGACCCAGGGTCAGTAAATGCTGAGGACAAACCCAGGATCAGTAAACAGGGGACCCAGGCTCAGTGAGCACTGAGGACAGACCCAGGCTCAGTAAGCAGGGAAACCAGACTTTAGTGAATGCTGAAGACAGACAGGCTCAGTAAGTAGGGAACCCAGGCTCAGTGAATGCTGAAGACAAACTCAGGCTCAGTAAGCAGGGGTCCCAGGTTCAGTGAGTGCTGAGGACCGACCCAGGCTCTACTGCTCTCCACACAATTTTCCCAGGGATCCCTGAGGACTTCCTGACCCCCTCTGTCTGCTTCACCACCTGAATCTCTCCCTCCACTGACCCATCTGTGTCCTTGCTGTTTTCCTGGGGTGGAGAGTGCACAGGCCAGGTCCCTGGCTGGCTCCTGGGTGGGTGACCTAGTTCATGACTGGGTCCCATGTCTCCATCTGAGACCAGAGAGGGTCTTTCACACCCACCCCTATCATGTTCCAGAGGGGTCAGTAGATGCCTGTGCTGAGAGGGGTTCCGTGGGGGAAAACCAGGTCCACTGAGCCTCCATCTCCGTTCCCTCCCCACCAGGGCAGCGGGATAGCCGCTCTCTGGTGTCTTCCTGAGCGTCCTGCCTCACCCACTGCACCCTCCATCCCACCCTGGGCCTAGAGTGGGCGGCCCAGGAGGACCATGGTTTCAAGACTCCATCTGCCCTCGGCCCTGGCGGGGGTCAGCCAAAGGCCTTGGTGGCTAAGACTGTCCTGACATGGGAGTGAGGGTCAAGGCAGACCCCAGACACACACCTGGCTTTGTGTGGTACCTGCCCGCGAGGCCTGTGGGGTCAGGCCCCAGCCCCAGCCCCGGCCTGCTCCAGAGCTCCTTCCCTTTCCTGACTCCCAGGTCATCGTGGCCATAATAAGCTTCCTGGAGACGATGCTTCTCATCTACCTCAGCTACAAAGTGAGTGCCTGCCCGGGATGGCACCTCACAGGGGGTCCCCACCCTCCCCACCCTCCCCAGCCTCCCCCACCCTCCCCCACCCTCTCCTATTTCCCCACACTTCCCAGCCTCATCCACTGACCTCCAGGGTGGGCTCCTCGCCCTCTTCCCCACCCTGCCCCTCCCCTGCTGGGCCCCACCCCCACCCTCCATCGCCCCCGCTGATACCCCCCGTTTGGCCCCAGGGCAACATCTGGGAGCAGATCTTCCGCGTGTCCTTCGTCCTGGAGATGATCAACACTCTGCCCTTCATCATCACGGTGGGTGAGCCCCAGCTGCCAGGAGTGCGGGCCCTGGAGCCCCAGCCCTGACCTGTCCCCTTCACAGATCTTCTGGCCGCCGCTGCGGAACCTGTTCATCCCCGTCTTTCTGAACTGCTGGCTGGCCAAGCACGCGCTGGAAAACATGATTGTAAGCCGGGGCGGGGGGTGCAGCTGGGACTTGGGGGGGCCACCCTCAGCCTCACCGGCCCTGGAAGACACTGTGCGACGTAGCCTGCCACGCCCCGGCCCTGGCATGACCTGTAGAGGACCGGGAAGCCAGGGCAGCAGAAACTCTGTCTCTGCTCCTGGAAAACATCCAAGCCAAGCCCCGAATGCCCTCCTTCCAGGAAGAAACTCAATCCCAGAGCTTTTCCTAAGCCTGGAAATGAAATGGCTGGCAGGAGGAGGAGGGACAAAGTGAAGGGTGTGACAAACCCAGGCCACGAGGACCAGGGCCACAAACACCAGGCCACACGCAAACTGGGGCCACGGGGCCACAGGCAGGCCCTGTGCTGAGCATCTCAGGAAACCTGGGCCACGGGGCCACAGGCAGGCCCTGCTCTGAGTGTCTCAACATGGTCCCTGTCATGTGAATGGCAGCAGTCAGTTCCCTAGGCGCCCACCCTCTCCAAGCCAGACCCCTTGACTCACAGCCCCCATTCCTGCCCCAGTGGTAAATCAGCGTTACCATGCTGGGTCCAAGCCTTGCACACTAACCAGCCCTCTGACCTGAGACTTAAGCCTCATCCCCGGGGATGTAGGCAAGATGGGGACCCGTCCTGAGAGAGGACAGCAGAGGGGGTGCCCTACCCAGGTGCAGGCTGCCCGTGGGCCTCAGCGGAGACGCAGGTGTGGCCAGGCGTGGGCTGCCCCTTGGGCCTCAGCCGAGACACAGGTGTGGCCGTGGGCTGCCCCGTGGGCCTCAGCCGAGACACAGGTGTGGCCAGGTGCAGGCTGCCCCGTGGGCCTCAGCCGAGACGCAGGTGTGGCCAGGTGCAGGCTGCCCCATGGGCCTCAGCCGAGACACAGGTGTGGCCAGGTACAGGCTGCCCCGTGGGCCTCAGCCGAGACGCAGGTGTGGCCGGGCCGTCTGCTTTCCACTGTCCTTCTAGTCTCTATTCATTGGCTCCTGGCGGGGTCCACAGTCCCTGCCCGCTGACAGCCACCACTCCTTCCACAGAATGACTTCCACCGTGCCATCCTGCGGACACAGTCAGCCATGTTCAACCAGGTCCTCATCCTCTTCTGCACCCTGCTGTGCCTCGTTTTCACGGGGTGAGTGCCGGCCGTCAGTGTGAGCACCCCAGGACGTTGGGAGGGCCCGAGAGGCAAGCAGGGCCGGGCGAGGGGATACAGATGCCTATGTCCAAGCTATCGGGGCAGAAAAGGCCACAGTGCCTGGGCTGCGGGTGTCGGGCCACCAAGCTGGGACTGAGGTCAGGAGGCAGCTCCAAGCCCACGTCCCCAGTACACGAGCAGCCCTGCAGCCCGACTCCTCCAAGGACAGAGATACCCAGATCTGGCTTCCTGGTCTATGCCATGGACGTAGAGAAGGGGACTGGCCCCTAGGCCAGGTGGGGTCTCTTGGCTGAGGCCCAGCTGAAAGCAGGGTCTGGAGGCAGCCAGGGTAAAGGTGGGGGTGCCCAGAGCTGCGAGGGCCTCCAGCCCACCCAGGCATGCCCACTGTGCCCACCTGCCTGTGTCCTCGTGGAGGGCTCCATGTTGCTGCTCTGCCTTGGGTCCCAGCGAGGCCTGGTCACCACTTCCCGTCCCCAGGCAGGGATGTCAGGCAAGCACTGTGCCCTGGGGGAGGG | benign | 154,612 |
Assess the variant on chromosome 9, position 135765749, impacting KCNT1 (potassium sodium-activated channel subfamily T member 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | CAACCCAGGGTGACCTTATCTTAAATCATTACATCTGCAGAGACCTATTTCCAATCAGATCACATGGCGAGGTTCTGGGCAGATAGGACTTTTAGGGTCACTACGGAGCTGCCGTCATTAGCTCCTTCATCCTCACGGCGGCCCTGGAGGGTTGCCGTGCCATGCAGCCATCTTGTAGGTGAGGAAGCTGAGGCTCAGAGTGGGGGACGTGAGCCCTGGGGTGTCTGACAGCAGAGCCCCCGCCAGCACCATCCGCGGGGAAGCCTCTGTTCCGGTCGCCCTGGAGTCTTGAGCACCTCCCAGCTGTGGAAACTGTTTTGTGTGGCAAGGCAGTGGAGCCTCGTCACCGGAACAAAGCAGGCGCTGGATAAGTGCAATGCGATGGTCCCATTTAGACCAGACGATAGCACATCAGCCATGCAGCCCACAGTCCATGGGAGCTCCTGCCATTGTTCATTTAACACGTGTTCAACAAGCCGGGCACCATGACTCAGCCTGTAATCCCAGCACTTCAGGACGACAAGGCAGGAGGATCGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAATGTAGTGAGACCCCATCTCTACAAAAAATAAAAATAAAACTAGCTGGTCATGGTGGTGATGCACCTAGAATCCCAGCTACTCAGGAGGTTGAGGCAGGAGGATGGCTTGAGCCCGGGAAGTCAAGGCTGCAGTGAGCTGTGATTGCACCACGGCACTCCAGCCTGGGTGACAGAGTGAGCCTCCGTCTCAAAAAAAAGAAAAGCCAAAGACTTTCACCTAGAGGCCAGTGGGGCCGGTGCTGGGAGGCCCCGGTGGCCTCTGTTTTGGATCTGTCCCCTTTGAGTCTCAACACCCAGAGCTTGCATCTGGGGAGCATGAGCCAGGGCAGGCAGCATCCTCAGACCAGCAGCCTCAAACCACCTGCCCCCCAGACATAGGCTCCTGACAGTGAGGCCTGCGAGTGCCTGGAAGACCGGGGTCTGAGGCCTGATTTGGCCACGCTTACCATCAAGAGAGTGATCCCCAATCCCACGGGCTGAGCCTCCCCACCCTCGGTTTACTCCACAGTCTCCAGCCGCCCCTCCTCCCTTGGTCCCCACACATCCTGCCAGCCGGGCCTGCGTCCTGCTCTGTGTCATCTGAGGCTATCAGCATCTACAGTTTCCATGTGGGAAAGGCCCCCCTAATGTAGGTGTCACCCCCCGGCCGGCCCTGCCCCAGGCCCCTAACAGACAGTCGTGTGTCAGGGCCCAGGTTCTTCACCGGGAGCCCTCGCTCCCCAGGCCTGGTCGCTGGTGCTCACCTGTTTCTCACCTGCAGTTCGAGGAGCTCGTCTACCTCTGGATGGAGCGGCAGAAGTCAGGGGGCAACTACAGCCGCCACCGTGCGCAGACGGAGAAGCACGTGGTCCTGTGTGTCAGCTCCCTCAAGATCGACCTTCTCATGGACTTCCTGAACGAGTTCTACGCCCACCCCCGGCTCCAGGTGAGGCCCCTTACCGTGGCCCAGCAGACGACTCCCTCCCGGCCCCTAGAGACGCCATCCTCTCCCCAGGACTGCTTGGCAAGTCCCTGAGTCCTCTCAGCCTTGGTTTACCCCTTCAGTGAGGGCAGATGCCTCCCTCCCGGCGCCCAGAGACGCCATCCTCTCCCCAGGACTGCCATCCTCTCCCCAGGACTGCTTGGCAAGTCCCTGAGTCCTCTCAGCCTCAGTTTACCCCTTCAGTGAGGGTGGCAGCCCACAGTCAGGTGGAGGGGCCCTGCGGGGGCCCCTCTTTTCCCTCCCACCAGATGCAAGATCACAGTGAGCTCTAGGGCCCAGAGGTGGTGGGCACAAACACAGTCCTGAAGGCAGGGCCGCCCGGGCGGGGCAGGGGCTGGCTCAGAGGGTCTGACCCTCCGCCTGGCCGGCAGGACTATTACGTGGTCATCCTGTGCCCCACGGAGATGGATGTCCAGGTGCGCAGAGTCCTGCAGATCCCTCTGTGGTCCCAGCGGGTCATCTACCTCCAGGGCTCTGCACTCAAAGACCAGGACCTCATGCGAGCCAAGTGAGTGCTGGTGGGCGGAGGGGGTGGCATGGGGGCACCTTCCTGAGTCAGGTCGGCTGCTCAGGGCTGAGGCATTGACCGTCGCTCTCCTGGCCAATGAGAGCCATGAGAGCATTATAGACTATCCCCAGGGTGGACCATCTAGGTGGACTGTCCAGGGTGGATCGTCCGGGGTGGACCATTTAGGGTGGATCGTCTGGGGTGGACCATTCAGGGTGGACCTTCTGGGATGGACCATTTAGGTGGACCATACAGGGTGGATCATCTGGAGTGAACTGTCAAGGGTGGACCATCCAGGGTGGACCATCTGGGGTGGACCATCTAGGATGGACTGTCTGGGGTGGACCATTCAGGGTAGACCTTCTGGGATGGACCATTTAGTGTGGACCATCCAGGGTGGATTGTCTAGGGTGGGTCATCTGGGGTGAACTGTCCAGGGGGGACCATCCAGGGTGGGTCATCTGGGATGGACTGTTCAGGGTGGACCATCCAGTGTAGATCATGTGGGGTGGACCATCTAGGGTAGACTGTCCAGGGTGGACCATCTGGGGTGGGCTGTCTGGGGTGGGCCATTCAGAGTGAACCATCTGGGATGGATCTCTAGGGTGGACCATCCAGGGTGGATCATCTGGGGTGGACCATTCAAGGTGGACCATCTAGGGTGGACCATCTGGGGTTGGTCCTCTGGGGTAGATCATCAGGGGCGGACCGTCTGGGGTATACCCTCTGGGGTTGTCTGGGGTGGGCCATCCATGGTGGACCCTCTTGGGTGGACCATCTGGGGTGGATCGTCTGGGGTGGACCATCCATGGTGGACCCTCTTGGGTGGACCGTCTGGGGTGGATCATCCAGGGTGGACTGTCTGGGGTGGACCCTCTGGGGTGGATTGTCTGGGGTAGACTGTCCGGGGCCTCTTGCAGTTTCTCTAGCTCAGGTCCCAGGCCCAGATGAGCAGGACCCTGCAGCCAGGCCCTTGTCCCTGCACCATACCCACTGTGGAGCAGCCCAGGCAAGCCCAACCCAGCTAAGTCTCTGTCTCCCTTTTCAGGGTGAGGGGCAGCCTTTTGCGAGCTCCACCTTCCCCTGCTCCAAGTCTAGGGAAATCTTTGTCAAGTTCTAGGGAGGCTCAAAATAGAACAGGGGCGGGAGAGTCAGCTGCTGTGAGTCAAGGTGGGAGAACGGGCTGAAGGTAGAGTTCCTTTTAAAGACAAATTGACAGAGTGACAAGGTAACAAGAGTATATTATTACCTGGAACTTTCCAGAATGTGTCGGTGCACTTTCTGGGACACTCCCTGGAAAACCCTCCTGGTGACATTTTCATTCCAGGAGCCTGAATGTGTCCTTAGTGGCATAGTGTTGGTGGTACTCCCAGGGTCTCTCCTCATCACTCCCCCTCCCCCTGCCATGTCCAGAGCCCCAAGCTGGAACCCATTGCCTATGGAACGCCACCTCTTTTGTGGTCCCGTCCCCAGCACACACAGGCGATGCACCTGCTTGGGCCCAGGGAGTGGGGAGAGGGCAAGGGCGTAGGCCATTCCCAGCCAGGCAGGGATGAGCCCAGGGCTGTGGGTACAGGGCCTGGGGCCCCTGCGGAGCAGACAGTGGTGCCAGTGATGTGGTGGGGTTCCCTGCCCTGGGGCAGAGGCGACAGTTTCTTAGACAGCGTCTCAGCAGTGCTAGGTGGTTTCTGCAGCTGGGCTTTCAGGAGACCCAGGAGGCGCTGGAAGTGACCACCCAGGTTCCCAGACCACAGAGTAGCCAGGCCAGGGAGCGGACAGGGTCTCTGCCCCCAGATTCCCCCCTCCCTCCTGCACCCCAACCCAGCCCTGGGTGAATGTCTCATGGCAACATACAAGATGGGTACCCCGGAAGCCAGTGCCCAGGTCACTGGCACACACCTAGGTGGGGTCTCCACCGGGCCTGCTCCTGCCAACCCTGGACCCCTAGCCCCTGACGCCTGGGAGTATGGACAAATCCAGGCAGCCCCAGCCAGCAGAGCCCCCTCGCACGACCTCCTGATGCCCCTCCTACCTGG | CAACCCAGGGTGACCTTATCTTAAATCATTACATCTGCAGAGACCTATTTCCAATCAGATCACATGGCGAGGTTCTGGGCAGATAGGACTTTTAGGGTCACTACGGAGCTGCCGTCATTAGCTCCTTCATCCTCACGGCGGCCCTGGAGGGTTGCCGTGCCATGCAGCCATCTTGTAGGTGAGGAAGCTGAGGCTCAGAGTGGGGGACGTGAGCCCTGGGGTGTCTGACAGCAGAGCCCCCGCCAGCACCATCCGCGGGGAAGCCTCTGTTCCGGTCGCCCTGGAGTCTTGAGCACCTCCCAGCTGTGGAAACTGTTTTGTGTGGCAAGGCAGTGGAGCCTCGTCACCGGAACAAAGCAGGCGCTGGATAAGTGCAATGCGATGGTCCCATTTAGACCAGACGATAGCACATCAGCCATGCAGCCCACAGTCCATGGGAGCTCCTGCCATTGTTCATTTAACACGTGTTCAACAAGCCGGGCACCATGACTCAGCCTGTAATCCCAGCACTTCAGGACGACAAGGCAGGAGGATCGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAATGTAGTGAGACCCCATCTCTACAAAAAATAAAAATAAAACTAGCTGGTCATGGTGGTGATGCACCTAGAATCCCAGCTACTCAGGAGGTTGAGGCAGGAGGATGGCTTGAGCCCGGGAAGTCAAGGCTGCAGTGAGCTGTGATTGCACCACGGCACTCCAGCCTGGGTGACAGAGTGAGCCTCCGTCTCAAAAAAAAGAAAAGCCAAAGACTTTCACCTAGAGGCCAGTGGGGCCGGTGCTGGGAGGCCCCGGTGGCCTCTGTTTTGGATCTGTCCCCTTTGAGTCTCAACACCCAGAGCTTGCATCTGGGGAGCATGAGCCAGGGCAGGCAGCATCCTCAGACCAGCAGCCTCAAACCACCTGCCCCCCAGACATAGGCTCCTGACAGTGAGGCCTGCGAGTGCCTGGAAGACCGGGGTCTGAGGCCTGATTTGGCCACGCTTACCATCAAGAGAGTGATCCCCAATCCCACGGGCTGAGCCTCCCCACCCTCGGTTTACTCCACAGTCTCCAGCCGCCCCTCCTCCCTTGGTCCCCACACATCCTGCCAGCCGGGCCTGCGTCCTGCTCTGTGTCATCTGAGGCTATCAGCATCTACAGTTTCCATGTGGGAAAGGCCCCCCTAATGTAGGTGTCACCCCCCGGCCGGCCCTGCCCCAGGCCCCTAACAGACAGTCGTGTGTCAGGGCCCAGGTTCTTCACCGGGAGCCCTCGCTCCCCAGGCCTGGTCGCTGGTGCTCACCTGTTTCTCACCTGCAGTTCGAGGAGCTCGTCTACCTCTGGATGGAGCGGCAGAAGTCAGGGGGCAACTACAGCCGCCACCGTGCGCAGACGGAGAAGCACGTGGTCCTGTGTGTCAGCTCCCTCAAGATCGACCTTCTCATGGACTTCCTGAACGAGTTCTACGCCCACCCCCGGCTCCAGGTGAGGCCCCTTACCGTGGCCCAGCAGACGACTCCCTCCCGGCCCCTAGAGACGCCATCCTCTCCCCAGGACTGCTTGGCAAGTCCCTGAGTCCTCTCAGCCTTGGTTTACCCCTTCAGTGAGGGCAGATGCCTCCCTCCCGGCGCCCAGAGACGCCATCCTCTCCCCAGGACTGCCATCCTCTCCCCAGGACTGCTTGGCAAGTCCCTGAGTCCTCTCAGCCTCAGTTTACCCCTTCAGTGAGGGTGGCAGCCCACAGTCAGGTGGAGGGGCCCTGCGGGGGCCCCTCTTTTCCCTCCCACCAGATGCAAGATCACAGTGAGCTCTAGGGCCCAGAGGTGGTGGGCACAAACACAGTCCTGAAGGCAGGGCCGCCCGGGCGGGGCAGGGGCTGGCTCAGAGGGTCTGACCCTCCGCCTGGCCGGCAGGACTATTACGTGGTCATCCTGTGCCCCACGGAGATGGATGTCCAGGTGCGCAGAGTCCTGCAGATCCCTCTGTGGTCCCAGCGGGTCATCTACCTCCAGGGCTCTGCACTCAAAGACCAGGACCTATTGCGAGCCAAGTGAGTGCTGGTGGGCGGAGGGGGTGGCATGGGGGCACCTTCCTGAGTCAGGTCGGCTGCTCAGGGCTGAGGCATTGACCGTCGCTCTCCTGGCCAATGAGAGCCATGAGAGCATTATAGACTATCCCCAGGGTGGACCATCTAGGTGGACTGTCCAGGGTGGATCGTCCGGGGTGGACCATTTAGGGTGGATCGTCTGGGGTGGACCATTCAGGGTGGACCTTCTGGGATGGACCATTTAGGTGGACCATACAGGGTGGATCATCTGGAGTGAACTGTCAAGGGTGGACCATCCAGGGTGGACCATCTGGGGTGGACCATCTAGGATGGACTGTCTGGGGTGGACCATTCAGGGTAGACCTTCTGGGATGGACCATTTAGTGTGGACCATCCAGGGTGGATTGTCTAGGGTGGGTCATCTGGGGTGAACTGTCCAGGGGGGACCATCCAGGGTGGGTCATCTGGGATGGACTGTTCAGGGTGGACCATCCAGTGTAGATCATGTGGGGTGGACCATCTAGGGTAGACTGTCCAGGGTGGACCATCTGGGGTGGGCTGTCTGGGGTGGGCCATTCAGAGTGAACCATCTGGGATGGATCTCTAGGGTGGACCATCCAGGGTGGATCATCTGGGGTGGACCATTCAAGGTGGACCATCTAGGGTGGACCATCTGGGGTTGGTCCTCTGGGGTAGATCATCAGGGGCGGACCGTCTGGGGTATACCCTCTGGGGTTGTCTGGGGTGGGCCATCCATGGTGGACCCTCTTGGGTGGACCATCTGGGGTGGATCGTCTGGGGTGGACCATCCATGGTGGACCCTCTTGGGTGGACCGTCTGGGGTGGATCATCCAGGGTGGACTGTCTGGGGTGGACCCTCTGGGGTGGATTGTCTGGGGTAGACTGTCCGGGGCCTCTTGCAGTTTCTCTAGCTCAGGTCCCAGGCCCAGATGAGCAGGACCCTGCAGCCAGGCCCTTGTCCCTGCACCATACCCACTGTGGAGCAGCCCAGGCAAGCCCAACCCAGCTAAGTCTCTGTCTCCCTTTTCAGGGTGAGGGGCAGCCTTTTGCGAGCTCCACCTTCCCCTGCTCCAAGTCTAGGGAAATCTTTGTCAAGTTCTAGGGAGGCTCAAAATAGAACAGGGGCGGGAGAGTCAGCTGCTGTGAGTCAAGGTGGGAGAACGGGCTGAAGGTAGAGTTCCTTTTAAAGACAAATTGACAGAGTGACAAGGTAACAAGAGTATATTATTACCTGGAACTTTCCAGAATGTGTCGGTGCACTTTCTGGGACACTCCCTGGAAAACCCTCCTGGTGACATTTTCATTCCAGGAGCCTGAATGTGTCCTTAGTGGCATAGTGTTGGTGGTACTCCCAGGGTCTCTCCTCATCACTCCCCCTCCCCCTGCCATGTCCAGAGCCCCAAGCTGGAACCCATTGCCTATGGAACGCCACCTCTTTTGTGGTCCCGTCCCCAGCACACACAGGCGATGCACCTGCTTGGGCCCAGGGAGTGGGGAGAGGGCAAGGGCGTAGGCCATTCCCAGCCAGGCAGGGATGAGCCCAGGGCTGTGGGTACAGGGCCTGGGGCCCCTGCGGAGCAGACAGTGGTGCCAGTGATGTGGTGGGGTTCCCTGCCCTGGGGCAGAGGCGACAGTTTCTTAGACAGCGTCTCAGCAGTGCTAGGTGGTTTCTGCAGCTGGGCTTTCAGGAGACCCAGGAGGCGCTGGAAGTGACCACCCAGGTTCCCAGACCACAGAGTAGCCAGGCCAGGGAGCGGACAGGGTCTCTGCCCCCAGATTCCCCCCTCCCTCCTGCACCCCAACCCAGCCCTGGGTGAATGTCTCATGGCAACATACAAGATGGGTACCCCGGAAGCCAGTGCCCAGGTCACTGGCACACACCTAGGTGGGGTCTCCACCGGGCCTGCTCCTGCCAACCCTGGACCCCTAGCCCCTGACGCCTGGGAGTATGGACAAATCCAGGCAGCCCCAGCCAGCAGAGCCCCCTCGCACGACCTCCTGATGCCCCTCCTACCTGG | benign | 154,682 |
Considering the genetic mutation at chromosome 9, position 135770059, impacting KCNT1 (potassium sodium-activated channel subfamily T member 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TGACCCCTGCCCCCACCCGCTGTCAGCCTGCACACGCTCAGGGGACAGGTGTGGCTCCTGAACCCTGCCCCCACCCTCTGTCAGCCTGCACACGCTCGGGGGACAGGTGTGGCTCCTGTGCCTTCTCGAGTGTCGGAGCTTGGAGTCTCCTAGGGTGTCCAGGAGTCCTGACCCGGCTCAGAGCCTGCCAGGGATGGGCCAGGGAGTCTGGAGAGGCCCAGGATGCCTGCGGGGGGGGGGGGGGGGGCACTGGGATACCGGTGGGGGGGGCACAGGGATGCCTGCTGGTGGAGGGCACACAAGGATGCCCGTGGGGGACACTGTGATGTGGGTTGGGGGGGGGGGGGGCAGTATGGGGATGCCCACTGAGGGGGCACTGTGACTCCTGACCAGCAGAGAGTAGGGGCCTCCTCCCGCCTTCCATCCTCCCCGCCTTCCATCCTCTCCGCCTTCCATCCAGCCGTCCTCTCAGTCTCTTTCTGTGCACCTGCTGCACCAGCCTCCTCCCAGAGGAGGTCCTCCCCACCTCACCTCCGCACCCCCGGCTGCACTGCCCACCTCCCCTGCTCCACCCACGCTCAGGCCCTGGTGCATTGCAGGATGGACAATGGGGAGGCCTGCTTCATCCTCAGCAGCAGGAACGAGGTGGACCGCACGGCTGCAGTGAGTGAGGCTGAGGCCCTGCCCAGGCGGGAGGGGCACCGTGGGGCCGGGGAGCGGGGGTCCCTGAGGGAAGAGACCTGCCCCAGGCTGCCGGTGCCGCCCAGCAGCCCACAGAGGCCAGCCCGTCTGCACTGACCAACCACCCACCCCGCCAGGACCACCAGACCATCCTGCGCGCCTGGGCCGTGAAGGACTTCGCCCCCAACTGCCCCCTCTACGTCCAGATCCTCAAACCTGAAAACAAGTTTCACGTCAAGTTTGCTGGTGCGTCTGGGGCACACGTGGGTGATGGTGTATCTGGGGCAGGGCACGTGTGCACACGTGGGTGATGGTGCATCTGGGGCAGGGCGCATGTGCACATGTGTGACGGTGCGTCTGGGGCAGGACGCGTGTGCACACGTGGGTGACGGTGCGTCTGGGGCAGGATGCGTGTGCACACGTGGGTGTCGGTGCGTCTGGGGCAGGGCGCATGTGCACACGTGGGTGACGGTGCGTCTGGGGCAGGGCGCGTGTGCACACGTGGGTGACAGTGCATCTGGGGCAGGGCACGTGTGCACGTGTGTGTCGGTGTGTCTGGGGCAGGGCGCGTGTGCATGCTGTTGGGTGATGGTGCGTCTGGGGCAGGGCGCGTGTGCACACGTGGGTGACGGTGTGTCTGGGGCAGGGCGCATGTGCACGCAGTTAGGCGAGCTGTGTGGGGCAGCGGGAGGGGCTGGCCCTGGAGCTCCTCACACAAGCACACCAGGAGGTGCTGGAGGGGACGGCAGACCCCCATCCTCACCGCATCCGAGAAGGGACCTAGGGGGTCCAAACTCTTCAGATGAAGTCTTATGCTGGGATCCTGGGGTCAGTGAAGGCAGGGTCAGAGGTCAGGTGGGGGCAGGAGCACCGTCTGATGAGCACCTCTATGGGCAGGGACCATGCCGGGTGCCCGGGGAACGGGGGGCAGGCCCCATGCCAGGTGCCCAGGGGACAGGGGTCAGGGCCCACATGGAGTGCCCAAGGCACAGGGGCCAGGGCCTGCCCCGCCCTGGAACTCCTCGCTGAGCTGGGAGAGAAGCACAGGAGCGATGGAAGGTCCACCGAGGCTCAGACCAAGTAGGGGGTTGAGGTCCACAGACTCTCGGGGCAGAGATGCTGAAGCCGGACAGCAGACACGGGGGTGCCAGGCAAGGGTGCATCTGCATAGCACCTTCAGGAAGTGAGCAGGTACTGTGGGGGAGGAGAGAGCCGGCAGAGCGGCAGGTGGACCGGCCTCCCCCACTGCCCGCAGACCACGTGGTGTGTGAGGAGGAGTGCAAGTACGCCATGCTGGCGCTGAACTGCATCTGCCCGGCGACCTCCACCCTCATCACCCTGCTGGTGCACACGTCCCGCGGCCAGTGAGTGCCCCGTGCCCCGGGGGACCGACCTCCATGGCGGGGCCGGCGCAGGGAGACAACGCAGGGCCTGCTTGGGGGCGGGGATGGGCTTCCCAGAGGAGGGGCACATGGCGGGCAAAAGTCCTGCATAGGGAGGGGATCCATGCCAGGGGAAGCAGAGGGGGGCACCTGCAGACCCAGCCGGGGAGAAGGGGCAGCCATGGCCGAGGGTGACGCTCCCCTGGCCCCGCCCTGGCCCACAGGGAGGGACAGGAGTCTCCGGAGCAGTGGCAGCGCATGTATGGGCGCTGCTCCGGCAACGAGGTGTACCACATCCGCATGGGTGACAGCAAGTTCTTCCGCGAGTACGAGGGCAAGAGCTTCACCTACGCGGCCTTCCACGCCCACAAGAAGTAAGGCCGGGCTGCATCCACAGGGCTGGCGCTCCAGGGCTGCTCTGCTCTGTGCCCTCCCCACCCTCCCGGTCAGGCACAGGGGTGGCCCTGGGGCGGGGCTGCAGAGGGCTCGGGGGAGGGCATCAGGTCATCCTGCCTGGCGAGGGCAGCCGCAGGACTGGGCTCCGGGTCCACATAAAAACCTGCCACGCGGCTCCTCCCTGAGGCTTGTGGGCTGACCCCAGCTCTCTGGTCCCCAACACCTCTGGGACGGGAGGGCTCAGCCAAGGTCCCTGACCCCAAATGGCCCCCAGGAGGAAGACGCGGAGCTCCGGTGGGGACTCTGGTGATTTGCAGGAAGGGCAGGCAGGGAGCGGGACAGGGCGGGTGAGCGGCGGTACCTGAAGTTGCCGGTGCCTCTGCCCAGGTATGGCGTGTGCCTCATCGGGCTGAAGCGGGAGGACAACAAGAGCATCCTGCTGAACCCGGGGCCCCGGCACATCCTGGCCGCCTCTGACACCTGCTTCTACATCAACATCACCAAGGAGGAGAACTCGGCCTTCATCTTCAAGCAGGAGGAGAAGCGGAAGAAGAGGGCCTTCTCGGGGCAGGGGCTGCACGAGGGTCCGGCCCGCCTGCCCGTGCACAGCATCATCGCCTCCATGGGTGAGCCGGGACAGGCGCGCGGGACTCCCTGGGCCTGCTCCTTTGGCGGGAGACCAGGCGGGACACCGGCAGGTGACCAGGTGGGATGGGAGACCAGGCAGGACAGGGGGAGGTGACCAGGTGGGACAGGAGACCAGGCAGGACAGGGGCAGGTGACCAGGTGGGACGGGAGACCAGGCAGGGCGGGAGACCAGGTGGGACAGGAGACCAGACCGGGCAGGGCAGGAGACCAGGCCAATGTGGCCCCCAGACCCAGTTCCTCTTGGCCTATGCCTCCAACCTTGGACAGGTGGAGTCTCTCTGGGCCTGTTTTTGAATCTGTCAAACAGGTGTCCCCGCCTTCCTGTGGCCACCTTTGTGGGCATTGCTCACTGTGTCCAAGTGCCTGTCCAAGTGGGGCCGCCCACAGGACCGGTTGGCAGCTCAACCGGAGGCTCCTGGTGGTCCCATCAGCCCGGAGGGTCTGCTTCACGTGTGTCCCTCAAACAGTCGGGAGTCCTGACGTCCACTGGGGCCAGGAGTTGGCGGAATGAGGTCGCAGTGGCCGAGGGCTTTGGCCTCTTCTCGTGCCTTCAGGGATCCTCCCGGGGAGCCGCTTACCAGACAGGGTCAGGCTGCCTCTGAGCAGGTGGAGGCCCATGGCCCCTAGGGCACCACCCATAGTGGTGTTGCCCCCTCCCCAGCCAGGCCTTCCTGGGGGACAGTTAGGGAGCAGGGCCAGGCCAGGAAGCCACTCAGGCCACAGACCCACAGCCGGGCCAGCATGTTGCCACCTCCGTACAGTGGCCCAGGCAGAGGCTGACCCTATGGGGCACCCCAGCACGCCCACCCTGGGGTGTTGTTACACGGTGGCTGCTGGGGCACCAGGTGGTTCAGTGCAGTGGGGCACAGTCTCCAAGACCCAGAGGGCCCTGGGGTTTGGAGACGTGCCGATGCGGAGCCCACCACCTGCCAGACCCCGCAGGTTCCCGGCCGCCGTCTACGGCAGCTCACTCGGGGGGCCGGGCCTGG | TGACCCCTGCCCCCACCCGCTGTCAGCCTGCACACGCTCAGGGGACAGGTGTGGCTCCTGAACCCTGCCCCCACCCTCTGTCAGCCTGCACACGCTCGGGGGACAGGTGTGGCTCCTGTGCCTTCTCGAGTGTCGGAGCTTGGAGTCTCCTAGGGTGTCCAGGAGTCCTGACCCGGCTCAGAGCCTGCCAGGGATGGGCCAGGGAGTCTGGAGAGGCCCAGGATGCCTGCGGGGGGGGGGGGGGGGGCACTGGGATACCGGTGGGGGGGGCACAGGGATGCCTGCTGGTGGAGGGCACACAAGGATGCCCGTGGGGGACACTGTGATGTGGGTTGGGGGGGGGGGGGGCAGTATGGGGATGCCCACTGAGGGGGCACTGTGACTCCTGACCAGCAGAGAGTAGGGGCCTCCTCCCGCCTTCCATCCTCCCCGCCTTCCATCCTCTCCGCCTTCCATCCAGCCGTCCTCTCAGTCTCTTTCTGTGCACCTGCTGCACCAGCCTCCTCCCAGAGGAGGTCCTCCCCACCTCACCTCCGCACCCCCGGCTGCACTGCCCACCTCCCCTGCTCCACCCACGCTCAGGCCCTGGTGCATTGCAGGATGGACAATGGGGAGGCCTGCTTCATCCTCAGCAGCAGGAACGAGGTGGACCGCACGGCTGCAGTGAGTGAGGCTGAGGCCCTGCCCAGGCGGGAGGGGCACCGTGGGGCCGGGGAGCGGGGGTCCCTGAGGGAAGAGACCTGCCCCAGGCTGCCGGTGCCGCCCAGCAGCCCACAGAGGCCAGCCCGTCTGCACTGACCAACCACCCACCCCGCCAGGACCACCAGACCATCCTGCGCGCCTGGGCCGTGAAGGACTTCGCCCCCAACTGCCCCCTCTACGTCCAGATCCTCAAACCTGAAAACAAGTTTCACGTCAAGTTTGCTGGTGCGTCTGGGGCACACGTGGGTGATGGTGTATCTGGGGCAGGGCACGTGTGCACACGTGGGTGATGGTGCATCTGGGGCAGGGCGCATGTGCACATGTGTGACGGTGCGTCTGGGGCAGGACGCGTGTGCACACGTGGGTGACGGTGCGTCTGGGGCAGGATGCGTGTGCACACGTGGGTGTCGGTGCGTCTGGGGCAGGGCGCATGTGCACACGTGGGTGACGGTGCGTCTGGGGCAGGGCGCGTGTGCACACGTGGGTGACAGTGCATCTGGGGCAGGGCACGTGTGCACGTGTGTGTCGGTGTGTCTGGGGCAGGGCGCGTGTGCATGCTGTTGGGTGATGGTGCGTCTGGGGCAGGGCGCGTGTGCACACGTGGGTGACGGTGTGTCTGGGGCAGGGCGCATGTGCACGCAGTTAGGCGAGCTGTGTGGGGCAGCGGGAGGGGCTGGCCCTGGAGCTCCTCACACAAGCACACCAGGAGGTGCTGGAGGGGACGGCAGACCCCCATCCTCACCGCATCCGAGAAGGGACCTAGGGGGTCCAAACTCTTCAGATGAAGTCTTATGCTGGGATCCTGGGGTCAGTGAAGGCAGGGTCAGAGGTCAGGTGGGGGCAGGAGCACCGTCTGATGAGCACCTCTATGGGCAGGGACCATGCCGGGTGCCCGGGGAACGGGGGGCAGGCCCCATGCCAGGTGCCCAGGGGACAGGGGTCAGGGCCCACATGGAGTGCCCAAGGCACAGGGGCCAGGGCCTGCCCCGCCCTGGAACTCCTCGCTGAGCTGGGAGAGAAGCACAGGAGCGATGGAAGGTCCACCGAGGCTCAGACCAAGTAGGGGGTTGAGGTCCACAGACTCTCGGGGCAGAGATGCTGAAGCCGGACAGCAGACACGGGGGTGCCAGGCAAGGGTGCATCTGCATAGCACCTTCAGGAAGTGAGCAGGTACTGTGGGGGAGGAGAGAGCCGGCAGAGCGGCAGGTGGACCGGCCTCCCCCACTGCCCGCAGACCACGTGGTGTGTGAGGAGGAGTGCAAGTACGCCATGCTGGCGCTGAACTGCATCTGCCCGGCGACCTCCACCCTCATCACCCTGCTGGTGCACACGTCCCGCGGCCAGTGAGTGCCCCGTGCCCCGTGCCCCGGGGGACCGACCTCCATGGCGGGGCCGGCGCAGGGAGACAACGCAGGGCCTGCTTGGGGGCGGGGATGGGCTTCCCAGAGGAGGGGCACATGGCGGGCAAAAGTCCTGCATAGGGAGGGGATCCATGCCAGGGGAAGCAGAGGGGGGCACCTGCAGACCCAGCCGGGGAGAAGGGGCAGCCATGGCCGAGGGTGACGCTCCCCTGGCCCCGCCCTGGCCCACAGGGAGGGACAGGAGTCTCCGGAGCAGTGGCAGCGCATGTATGGGCGCTGCTCCGGCAACGAGGTGTACCACATCCGCATGGGTGACAGCAAGTTCTTCCGCGAGTACGAGGGCAAGAGCTTCACCTACGCGGCCTTCCACGCCCACAAGAAGTAAGGCCGGGCTGCATCCACAGGGCTGGCGCTCCAGGGCTGCTCTGCTCTGTGCCCTCCCCACCCTCCCGGTCAGGCACAGGGGTGGCCCTGGGGCGGGGCTGCAGAGGGCTCGGGGGAGGGCATCAGGTCATCCTGCCTGGCGAGGGCAGCCGCAGGACTGGGCTCCGGGTCCACATAAAAACCTGCCACGCGGCTCCTCCCTGAGGCTTGTGGGCTGACCCCAGCTCTCTGGTCCCCAACACCTCTGGGACGGGAGGGCTCAGCCAAGGTCCCTGACCCCAAATGGCCCCCAGGAGGAAGACGCGGAGCTCCGGTGGGGACTCTGGTGATTTGCAGGAAGGGCAGGCAGGGAGCGGGACAGGGCGGGTGAGCGGCGGTACCTGAAGTTGCCGGTGCCTCTGCCCAGGTATGGCGTGTGCCTCATCGGGCTGAAGCGGGAGGACAACAAGAGCATCCTGCTGAACCCGGGGCCCCGGCACATCCTGGCCGCCTCTGACACCTGCTTCTACATCAACATCACCAAGGAGGAGAACTCGGCCTTCATCTTCAAGCAGGAGGAGAAGCGGAAGAAGAGGGCCTTCTCGGGGCAGGGGCTGCACGAGGGTCCGGCCCGCCTGCCCGTGCACAGCATCATCGCCTCCATGGGTGAGCCGGGACAGGCGCGCGGGACTCCCTGGGCCTGCTCCTTTGGCGGGAGACCAGGCGGGACACCGGCAGGTGACCAGGTGGGATGGGAGACCAGGCAGGACAGGGGGAGGTGACCAGGTGGGACAGGAGACCAGGCAGGACAGGGGCAGGTGACCAGGTGGGACGGGAGACCAGGCAGGGCGGGAGACCAGGTGGGACAGGAGACCAGACCGGGCAGGGCAGGAGACCAGGCCAATGTGGCCCCCAGACCCAGTTCCTCTTGGCCTATGCCTCCAACCTTGGACAGGTGGAGTCTCTCTGGGCCTGTTTTTGAATCTGTCAAACAGGTGTCCCCGCCTTCCTGTGGCCACCTTTGTGGGCATTGCTCACTGTGTCCAAGTGCCTGTCCAAGTGGGGCCGCCCACAGGACCGGTTGGCAGCTCAACCGGAGGCTCCTGGTGGTCCCATCAGCCCGGAGGGTCTGCTTCACGTGTGTCCCTCAAACAGTCGGGAGTCCTGACGTCCACTGGGGCCAGGAGTTGGCGGAATGAGGTCGCAGTGGCCGAGGGCTTTGGCCTCTTCTCGTGCCTTCAGGGATCCTCCCGGGGAGCCGCTTACCAGACAGGGTCAGGCTGCCTCTGAGCAGGTGGAGGCCCATGGCCCCTAGGGCACCACCCATAGTGGTGTTGCCCCCTCCCCAGCCAGGCCTTCCTGGGGGACAGTTAGGGAGCAGGGCCAGGCCAGGAAGCCACTCAGGCCACAGACCCACAGCCGGGCCAGCATGTTGCCACCTCCGTACAGTGGCCCAGGCAGAGGCTGACCCTATGGGGCACCCCAGCACGCCCACCCTGGGGTGTTGTTACACGGTGGCTGCTGGGGCACCAGGTGGTTCAGTGCAGTGGGGCACAGTCTCCAAGACCCAGAGGGCCCTGGGGTTTGGAGACGTGCCGATGCGGAGCCCACCACCTGCCAGACCCCGCAGGTTCCCGGCCGCCGTCTACGGCAGCTCACTCGGGGGGCCG | benign | 154,717 |
Is chromosome 9, position 135770071, gene KCNT1 (potassium sodium-activated channel subfamily T member 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | CCACCCGCTGTCAGCCTGCACACGCTCAGGGGACAGGTGTGGCTCCTGAACCCTGCCCCCACCCTCTGTCAGCCTGCACACGCTCGGGGGACAGGTGTGGCTCCTGTGCCTTCTCGAGTGTCGGAGCTTGGAGTCTCCTAGGGTGTCCAGGAGTCCTGACCCGGCTCAGAGCCTGCCAGGGATGGGCCAGGGAGTCTGGAGAGGCCCAGGATGCCTGCGGGGGGGGGGGGGGGGGCACTGGGATACCGGTGGGGGGGGCACAGGGATGCCTGCTGGTGGAGGGCACACAAGGATGCCCGTGGGGGACACTGTGATGTGGGTTGGGGGGGGGGGGGGCAGTATGGGGATGCCCACTGAGGGGGCACTGTGACTCCTGACCAGCAGAGAGTAGGGGCCTCCTCCCGCCTTCCATCCTCCCCGCCTTCCATCCTCTCCGCCTTCCATCCAGCCGTCCTCTCAGTCTCTTTCTGTGCACCTGCTGCACCAGCCTCCTCCCAGAGGAGGTCCTCCCCACCTCACCTCCGCACCCCCGGCTGCACTGCCCACCTCCCCTGCTCCACCCACGCTCAGGCCCTGGTGCATTGCAGGATGGACAATGGGGAGGCCTGCTTCATCCTCAGCAGCAGGAACGAGGTGGACCGCACGGCTGCAGTGAGTGAGGCTGAGGCCCTGCCCAGGCGGGAGGGGCACCGTGGGGCCGGGGAGCGGGGGTCCCTGAGGGAAGAGACCTGCCCCAGGCTGCCGGTGCCGCCCAGCAGCCCACAGAGGCCAGCCCGTCTGCACTGACCAACCACCCACCCCGCCAGGACCACCAGACCATCCTGCGCGCCTGGGCCGTGAAGGACTTCGCCCCCAACTGCCCCCTCTACGTCCAGATCCTCAAACCTGAAAACAAGTTTCACGTCAAGTTTGCTGGTGCGTCTGGGGCACACGTGGGTGATGGTGTATCTGGGGCAGGGCACGTGTGCACACGTGGGTGATGGTGCATCTGGGGCAGGGCGCATGTGCACATGTGTGACGGTGCGTCTGGGGCAGGACGCGTGTGCACACGTGGGTGACGGTGCGTCTGGGGCAGGATGCGTGTGCACACGTGGGTGTCGGTGCGTCTGGGGCAGGGCGCATGTGCACACGTGGGTGACGGTGCGTCTGGGGCAGGGCGCGTGTGCACACGTGGGTGACAGTGCATCTGGGGCAGGGCACGTGTGCACGTGTGTGTCGGTGTGTCTGGGGCAGGGCGCGTGTGCATGCTGTTGGGTGATGGTGCGTCTGGGGCAGGGCGCGTGTGCACACGTGGGTGACGGTGTGTCTGGGGCAGGGCGCATGTGCACGCAGTTAGGCGAGCTGTGTGGGGCAGCGGGAGGGGCTGGCCCTGGAGCTCCTCACACAAGCACACCAGGAGGTGCTGGAGGGGACGGCAGACCCCCATCCTCACCGCATCCGAGAAGGGACCTAGGGGGTCCAAACTCTTCAGATGAAGTCTTATGCTGGGATCCTGGGGTCAGTGAAGGCAGGGTCAGAGGTCAGGTGGGGGCAGGAGCACCGTCTGATGAGCACCTCTATGGGCAGGGACCATGCCGGGTGCCCGGGGAACGGGGGGCAGGCCCCATGCCAGGTGCCCAGGGGACAGGGGTCAGGGCCCACATGGAGTGCCCAAGGCACAGGGGCCAGGGCCTGCCCCGCCCTGGAACTCCTCGCTGAGCTGGGAGAGAAGCACAGGAGCGATGGAAGGTCCACCGAGGCTCAGACCAAGTAGGGGGTTGAGGTCCACAGACTCTCGGGGCAGAGATGCTGAAGCCGGACAGCAGACACGGGGGTGCCAGGCAAGGGTGCATCTGCATAGCACCTTCAGGAAGTGAGCAGGTACTGTGGGGGAGGAGAGAGCCGGCAGAGCGGCAGGTGGACCGGCCTCCCCCACTGCCCGCAGACCACGTGGTGTGTGAGGAGGAGTGCAAGTACGCCATGCTGGCGCTGAACTGCATCTGCCCGGCGACCTCCACCCTCATCACCCTGCTGGTGCACACGTCCCGCGGCCAGTGAGTGCCCCGTGCCCCGGGGGACCGACCTCCATGGCGGGGCCGGCGCAGGGAGACAACGCAGGGCCTGCTTGGGGGCGGGGATGGGCTTCCCAGAGGAGGGGCACATGGCGGGCAAAAGTCCTGCATAGGGAGGGGATCCATGCCAGGGGAAGCAGAGGGGGGCACCTGCAGACCCAGCCGGGGAGAAGGGGCAGCCATGGCCGAGGGTGACGCTCCCCTGGCCCCGCCCTGGCCCACAGGGAGGGACAGGAGTCTCCGGAGCAGTGGCAGCGCATGTATGGGCGCTGCTCCGGCAACGAGGTGTACCACATCCGCATGGGTGACAGCAAGTTCTTCCGCGAGTACGAGGGCAAGAGCTTCACCTACGCGGCCTTCCACGCCCACAAGAAGTAAGGCCGGGCTGCATCCACAGGGCTGGCGCTCCAGGGCTGCTCTGCTCTGTGCCCTCCCCACCCTCCCGGTCAGGCACAGGGGTGGCCCTGGGGCGGGGCTGCAGAGGGCTCGGGGGAGGGCATCAGGTCATCCTGCCTGGCGAGGGCAGCCGCAGGACTGGGCTCCGGGTCCACATAAAAACCTGCCACGCGGCTCCTCCCTGAGGCTTGTGGGCTGACCCCAGCTCTCTGGTCCCCAACACCTCTGGGACGGGAGGGCTCAGCCAAGGTCCCTGACCCCAAATGGCCCCCAGGAGGAAGACGCGGAGCTCCGGTGGGGACTCTGGTGATTTGCAGGAAGGGCAGGCAGGGAGCGGGACAGGGCGGGTGAGCGGCGGTACCTGAAGTTGCCGGTGCCTCTGCCCAGGTATGGCGTGTGCCTCATCGGGCTGAAGCGGGAGGACAACAAGAGCATCCTGCTGAACCCGGGGCCCCGGCACATCCTGGCCGCCTCTGACACCTGCTTCTACATCAACATCACCAAGGAGGAGAACTCGGCCTTCATCTTCAAGCAGGAGGAGAAGCGGAAGAAGAGGGCCTTCTCGGGGCAGGGGCTGCACGAGGGTCCGGCCCGCCTGCCCGTGCACAGCATCATCGCCTCCATGGGTGAGCCGGGACAGGCGCGCGGGACTCCCTGGGCCTGCTCCTTTGGCGGGAGACCAGGCGGGACACCGGCAGGTGACCAGGTGGGATGGGAGACCAGGCAGGACAGGGGGAGGTGACCAGGTGGGACAGGAGACCAGGCAGGACAGGGGCAGGTGACCAGGTGGGACGGGAGACCAGGCAGGGCGGGAGACCAGGTGGGACAGGAGACCAGACCGGGCAGGGCAGGAGACCAGGCCAATGTGGCCCCCAGACCCAGTTCCTCTTGGCCTATGCCTCCAACCTTGGACAGGTGGAGTCTCTCTGGGCCTGTTTTTGAATCTGTCAAACAGGTGTCCCCGCCTTCCTGTGGCCACCTTTGTGGGCATTGCTCACTGTGTCCAAGTGCCTGTCCAAGTGGGGCCGCCCACAGGACCGGTTGGCAGCTCAACCGGAGGCTCCTGGTGGTCCCATCAGCCCGGAGGGTCTGCTTCACGTGTGTCCCTCAAACAGTCGGGAGTCCTGACGTCCACTGGGGCCAGGAGTTGGCGGAATGAGGTCGCAGTGGCCGAGGGCTTTGGCCTCTTCTCGTGCCTTCAGGGATCCTCCCGGGGAGCCGCTTACCAGACAGGGTCAGGCTGCCTCTGAGCAGGTGGAGGCCCATGGCCCCTAGGGCACCACCCATAGTGGTGTTGCCCCCTCCCCAGCCAGGCCTTCCTGGGGGACAGTTAGGGAGCAGGGCCAGGCCAGGAAGCCACTCAGGCCACAGACCCACAGCCGGGCCAGCATGTTGCCACCTCCGTACAGTGGCCCAGGCAGAGGCTGACCCTATGGGGCACCCCAGCACGCCCACCCTGGGGTGTTGTTACACGGTGGCTGCTGGGGCACCAGGTGGTTCAGTGCAGTGGGGCACAGTCTCCAAGACCCAGAGGGCCCTGGGGTTTGGAGACGTGCCGATGCGGAGCCCACCACCTGCCAGACCCCGCAGGTTCCCGGCCGCCGTCTACGGCAGCTCACTCGGGGGGCCGGGCCTGGCCGCAGGGCACT | CCACCCGCTGTCAGCCTGCACACGCTCAGGGGACAGGTGTGGCTCCTGAACCCTGCCCCCACCCTCTGTCAGCCTGCACACGCTCGGGGGACAGGTGTGGCTCCTGTGCCTTCTCGAGTGTCGGAGCTTGGAGTCTCCTAGGGTGTCCAGGAGTCCTGACCCGGCTCAGAGCCTGCCAGGGATGGGCCAGGGAGTCTGGAGAGGCCCAGGATGCCTGCGGGGGGGGGGGGGGGGGCACTGGGATACCGGTGGGGGGGGCACAGGGATGCCTGCTGGTGGAGGGCACACAAGGATGCCCGTGGGGGACACTGTGATGTGGGTTGGGGGGGGGGGGGGCAGTATGGGGATGCCCACTGAGGGGGCACTGTGACTCCTGACCAGCAGAGAGTAGGGGCCTCCTCCCGCCTTCCATCCTCCCCGCCTTCCATCCTCTCCGCCTTCCATCCAGCCGTCCTCTCAGTCTCTTTCTGTGCACCTGCTGCACCAGCCTCCTCCCAGAGGAGGTCCTCCCCACCTCACCTCCGCACCCCCGGCTGCACTGCCCACCTCCCCTGCTCCACCCACGCTCAGGCCCTGGTGCATTGCAGGATGGACAATGGGGAGGCCTGCTTCATCCTCAGCAGCAGGAACGAGGTGGACCGCACGGCTGCAGTGAGTGAGGCTGAGGCCCTGCCCAGGCGGGAGGGGCACCGTGGGGCCGGGGAGCGGGGGTCCCTGAGGGAAGAGACCTGCCCCAGGCTGCCGGTGCCGCCCAGCAGCCCACAGAGGCCAGCCCGTCTGCACTGACCAACCACCCACCCCGCCAGGACCACCAGACCATCCTGCGCGCCTGGGCCGTGAAGGACTTCGCCCCCAACTGCCCCCTCTACGTCCAGATCCTCAAACCTGAAAACAAGTTTCACGTCAAGTTTGCTGGTGCGTCTGGGGCACACGTGGGTGATGGTGTATCTGGGGCAGGGCACGTGTGCACACGTGGGTGATGGTGCATCTGGGGCAGGGCGCATGTGCACATGTGTGACGGTGCGTCTGGGGCAGGACGCGTGTGCACACGTGGGTGACGGTGCGTCTGGGGCAGGATGCGTGTGCACACGTGGGTGTCGGTGCGTCTGGGGCAGGGCGCATGTGCACACGTGGGTGACGGTGCGTCTGGGGCAGGGCGCGTGTGCACACGTGGGTGACAGTGCATCTGGGGCAGGGCACGTGTGCACGTGTGTGTCGGTGTGTCTGGGGCAGGGCGCGTGTGCATGCTGTTGGGTGATGGTGCGTCTGGGGCAGGGCGCGTGTGCACACGTGGGTGACGGTGTGTCTGGGGCAGGGCGCATGTGCACGCAGTTAGGCGAGCTGTGTGGGGCAGCGGGAGGGGCTGGCCCTGGAGCTCCTCACACAAGCACACCAGGAGGTGCTGGAGGGGACGGCAGACCCCCATCCTCACCGCATCCGAGAAGGGACCTAGGGGGTCCAAACTCTTCAGATGAAGTCTTATGCTGGGATCCTGGGGTCAGTGAAGGCAGGGTCAGAGGTCAGGTGGGGGCAGGAGCACCGTCTGATGAGCACCTCTATGGGCAGGGACCATGCCGGGTGCCCGGGGAACGGGGGGCAGGCCCCATGCCAGGTGCCCAGGGGACAGGGGTCAGGGCCCACATGGAGTGCCCAAGGCACAGGGGCCAGGGCCTGCCCCGCCCTGGAACTCCTCGCTGAGCTGGGAGAGAAGCACAGGAGCGATGGAAGGTCCACCGAGGCTCAGACCAAGTAGGGGGTTGAGGTCCACAGACTCTCGGGGCAGAGATGCTGAAGCCGGACAGCAGACACGGGGGTGCCAGGCAAGGGTGCATCTGCATAGCACCTTCAGGAAGTGAGCAGGTACTGTGGGGGAGGAGAGAGCCGGCAGAGCGGCAGGTGGACCGGCCTCCCCCACTGCCCGCAGACCACGTGGTGTGTGAGGAGGAGTGCAAGTACGCCATGCTGGCGCTGAACTGCATCTGCCCGGCGACCTCCACCCTCATCACCCTGCTGGTGCACACGTCCCGCGGCCAGTGAGTGCCCCGTGCCCCGACCTCCATGGCGGGGCCGGCGCAGGGAGACAACGCAGGGCCTGCTTGGGGGCGGGGATGGGCTTCCCAGAGGAGGGGCACATGGCGGGCAAAAGTCCTGCATAGGGAGGGGATCCATGCCAGGGGAAGCAGAGGGGGGCACCTGCAGACCCAGCCGGGGAGAAGGGGCAGCCATGGCCGAGGGTGACGCTCCCCTGGCCCCGCCCTGGCCCACAGGGAGGGACAGGAGTCTCCGGAGCAGTGGCAGCGCATGTATGGGCGCTGCTCCGGCAACGAGGTGTACCACATCCGCATGGGTGACAGCAAGTTCTTCCGCGAGTACGAGGGCAAGAGCTTCACCTACGCGGCCTTCCACGCCCACAAGAAGTAAGGCCGGGCTGCATCCACAGGGCTGGCGCTCCAGGGCTGCTCTGCTCTGTGCCCTCCCCACCCTCCCGGTCAGGCACAGGGGTGGCCCTGGGGCGGGGCTGCAGAGGGCTCGGGGGAGGGCATCAGGTCATCCTGCCTGGCGAGGGCAGCCGCAGGACTGGGCTCCGGGTCCACATAAAAACCTGCCACGCGGCTCCTCCCTGAGGCTTGTGGGCTGACCCCAGCTCTCTGGTCCCCAACACCTCTGGGACGGGAGGGCTCAGCCAAGGTCCCTGACCCCAAATGGCCCCCAGGAGGAAGACGCGGAGCTCCGGTGGGGACTCTGGTGATTTGCAGGAAGGGCAGGCAGGGAGCGGGACAGGGCGGGTGAGCGGCGGTACCTGAAGTTGCCGGTGCCTCTGCCCAGGTATGGCGTGTGCCTCATCGGGCTGAAGCGGGAGGACAACAAGAGCATCCTGCTGAACCCGGGGCCCCGGCACATCCTGGCCGCCTCTGACACCTGCTTCTACATCAACATCACCAAGGAGGAGAACTCGGCCTTCATCTTCAAGCAGGAGGAGAAGCGGAAGAAGAGGGCCTTCTCGGGGCAGGGGCTGCACGAGGGTCCGGCCCGCCTGCCCGTGCACAGCATCATCGCCTCCATGGGTGAGCCGGGACAGGCGCGCGGGACTCCCTGGGCCTGCTCCTTTGGCGGGAGACCAGGCGGGACACCGGCAGGTGACCAGGTGGGATGGGAGACCAGGCAGGACAGGGGGAGGTGACCAGGTGGGACAGGAGACCAGGCAGGACAGGGGCAGGTGACCAGGTGGGACGGGAGACCAGGCAGGGCGGGAGACCAGGTGGGACAGGAGACCAGACCGGGCAGGGCAGGAGACCAGGCCAATGTGGCCCCCAGACCCAGTTCCTCTTGGCCTATGCCTCCAACCTTGGACAGGTGGAGTCTCTCTGGGCCTGTTTTTGAATCTGTCAAACAGGTGTCCCCGCCTTCCTGTGGCCACCTTTGTGGGCATTGCTCACTGTGTCCAAGTGCCTGTCCAAGTGGGGCCGCCCACAGGACCGGTTGGCAGCTCAACCGGAGGCTCCTGGTGGTCCCATCAGCCCGGAGGGTCTGCTTCACGTGTGTCCCTCAAACAGTCGGGAGTCCTGACGTCCACTGGGGCCAGGAGTTGGCGGAATGAGGTCGCAGTGGCCGAGGGCTTTGGCCTCTTCTCGTGCCTTCAGGGATCCTCCCGGGGAGCCGCTTACCAGACAGGGTCAGGCTGCCTCTGAGCAGGTGGAGGCCCATGGCCCCTAGGGCACCACCCATAGTGGTGTTGCCCCCTCCCCAGCCAGGCCTTCCTGGGGGACAGTTAGGGAGCAGGGCCAGGCCAGGAAGCCACTCAGGCCACAGACCCACAGCCGGGCCAGCATGTTGCCACCTCCGTACAGTGGCCCAGGCAGAGGCTGACCCTATGGGGCACCCCAGCACGCCCACCCTGGGGTGTTGTTACACGGTGGCTGCTGGGGCACCAGGTGGTTCAGTGCAGTGGGGCACAGTCTCCAAGACCCAGAGGGCCCTGGGGTTTGGAGACGTGCCGATGCGGAGCCCACCACCTGCCAGACCCCGCAGGTTCCCGGCCGCCGTCTACGGCAGCTCACTCGGGGGGCCGGGCCTGGCCGCAGGGCACTNNNNNNNN | benign | 154,718 |
Regarding the variant at chromosome 9 and position 135770273, affecting gene KCNT1 (potassium sodium-activated channel subfamily T member 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | GGCCCAGGATGCCTGCGGGGGGGGGGGGGGGGGCACTGGGATACCGGTGGGGGGGGCACAGGGATGCCTGCTGGTGGAGGGCACACAAGGATGCCCGTGGGGGACACTGTGATGTGGGTTGGGGGGGGGGGGGGCAGTATGGGGATGCCCACTGAGGGGGCACTGTGACTCCTGACCAGCAGAGAGTAGGGGCCTCCTCCCGCCTTCCATCCTCCCCGCCTTCCATCCTCTCCGCCTTCCATCCAGCCGTCCTCTCAGTCTCTTTCTGTGCACCTGCTGCACCAGCCTCCTCCCAGAGGAGGTCCTCCCCACCTCACCTCCGCACCCCCGGCTGCACTGCCCACCTCCCCTGCTCCACCCACGCTCAGGCCCTGGTGCATTGCAGGATGGACAATGGGGAGGCCTGCTTCATCCTCAGCAGCAGGAACGAGGTGGACCGCACGGCTGCAGTGAGTGAGGCTGAGGCCCTGCCCAGGCGGGAGGGGCACCGTGGGGCCGGGGAGCGGGGGTCCCTGAGGGAAGAGACCTGCCCCAGGCTGCCGGTGCCGCCCAGCAGCCCACAGAGGCCAGCCCGTCTGCACTGACCAACCACCCACCCCGCCAGGACCACCAGACCATCCTGCGCGCCTGGGCCGTGAAGGACTTCGCCCCCAACTGCCCCCTCTACGTCCAGATCCTCAAACCTGAAAACAAGTTTCACGTCAAGTTTGCTGGTGCGTCTGGGGCACACGTGGGTGATGGTGTATCTGGGGCAGGGCACGTGTGCACACGTGGGTGATGGTGCATCTGGGGCAGGGCGCATGTGCACATGTGTGACGGTGCGTCTGGGGCAGGACGCGTGTGCACACGTGGGTGACGGTGCGTCTGGGGCAGGATGCGTGTGCACACGTGGGTGTCGGTGCGTCTGGGGCAGGGCGCATGTGCACACGTGGGTGACGGTGCGTCTGGGGCAGGGCGCGTGTGCACACGTGGGTGACAGTGCATCTGGGGCAGGGCACGTGTGCACGTGTGTGTCGGTGTGTCTGGGGCAGGGCGCGTGTGCATGCTGTTGGGTGATGGTGCGTCTGGGGCAGGGCGCGTGTGCACACGTGGGTGACGGTGTGTCTGGGGCAGGGCGCATGTGCACGCAGTTAGGCGAGCTGTGTGGGGCAGCGGGAGGGGCTGGCCCTGGAGCTCCTCACACAAGCACACCAGGAGGTGCTGGAGGGGACGGCAGACCCCCATCCTCACCGCATCCGAGAAGGGACCTAGGGGGTCCAAACTCTTCAGATGAAGTCTTATGCTGGGATCCTGGGGTCAGTGAAGGCAGGGTCAGAGGTCAGGTGGGGGCAGGAGCACCGTCTGATGAGCACCTCTATGGGCAGGGACCATGCCGGGTGCCCGGGGAACGGGGGGCAGGCCCCATGCCAGGTGCCCAGGGGACAGGGGTCAGGGCCCACATGGAGTGCCCAAGGCACAGGGGCCAGGGCCTGCCCCGCCCTGGAACTCCTCGCTGAGCTGGGAGAGAAGCACAGGAGCGATGGAAGGTCCACCGAGGCTCAGACCAAGTAGGGGGTTGAGGTCCACAGACTCTCGGGGCAGAGATGCTGAAGCCGGACAGCAGACACGGGGGTGCCAGGCAAGGGTGCATCTGCATAGCACCTTCAGGAAGTGAGCAGGTACTGTGGGGGAGGAGAGAGCCGGCAGAGCGGCAGGTGGACCGGCCTCCCCCACTGCCCGCAGACCACGTGGTGTGTGAGGAGGAGTGCAAGTACGCCATGCTGGCGCTGAACTGCATCTGCCCGGCGACCTCCACCCTCATCACCCTGCTGGTGCACACGTCCCGCGGCCAGTGAGTGCCCCGTGCCCCGGGGGACCGACCTCCATGGCGGGGCCGGCGCAGGGAGACAACGCAGGGCCTGCTTGGGGGCGGGGATGGGCTTCCCAGAGGAGGGGCACATGGCGGGCAAAAGTCCTGCATAGGGAGGGGATCCATGCCAGGGGAAGCAGAGGGGGGCACCTGCAGACCCAGCCGGGGAGAAGGGGCAGCCATGGCCGAGGGTGACGCTCCCCTGGCCCCGCCCTGGCCCACAGGGAGGGACAGGAGTCTCCGGAGCAGTGGCAGCGCATGTATGGGCGCTGCTCCGGCAACGAGGTGTACCACATCCGCATGGGTGACAGCAAGTTCTTCCGCGAGTACGAGGGCAAGAGCTTCACCTACGCGGCCTTCCACGCCCACAAGAAGTAAGGCCGGGCTGCATCCACAGGGCTGGCGCTCCAGGGCTGCTCTGCTCTGTGCCCTCCCCACCCTCCCGGTCAGGCACAGGGGTGGCCCTGGGGCGGGGCTGCAGAGGGCTCGGGGGAGGGCATCAGGTCATCCTGCCTGGCGAGGGCAGCCGCAGGACTGGGCTCCGGGTCCACATAAAAACCTGCCACGCGGCTCCTCCCTGAGGCTTGTGGGCTGACCCCAGCTCTCTGGTCCCCAACACCTCTGGGACGGGAGGGCTCAGCCAAGGTCCCTGACCCCAAATGGCCCCCAGGAGGAAGACGCGGAGCTCCGGTGGGGACTCTGGTGATTTGCAGGAAGGGCAGGCAGGGAGCGGGACAGGGCGGGTGAGCGGCGGTACCTGAAGTTGCCGGTGCCTCTGCCCAGGTATGGCGTGTGCCTCATCGGGCTGAAGCGGGAGGACAACAAGAGCATCCTGCTGAACCCGGGGCCCCGGCACATCCTGGCCGCCTCTGACACCTGCTTCTACATCAACATCACCAAGGAGGAGAACTCGGCCTTCATCTTCAAGCAGGAGGAGAAGCGGAAGAAGAGGGCCTTCTCGGGGCAGGGGCTGCACGAGGGTCCGGCCCGCCTGCCCGTGCACAGCATCATCGCCTCCATGGGTGAGCCGGGACAGGCGCGCGGGACTCCCTGGGCCTGCTCCTTTGGCGGGAGACCAGGCGGGACACCGGCAGGTGACCAGGTGGGATGGGAGACCAGGCAGGACAGGGGGAGGTGACCAGGTGGGACAGGAGACCAGGCAGGACAGGGGCAGGTGACCAGGTGGGACGGGAGACCAGGCAGGGCGGGAGACCAGGTGGGACAGGAGACCAGACCGGGCAGGGCAGGAGACCAGGCCAATGTGGCCCCCAGACCCAGTTCCTCTTGGCCTATGCCTCCAACCTTGGACAGGTGGAGTCTCTCTGGGCCTGTTTTTGAATCTGTCAAACAGGTGTCCCCGCCTTCCTGTGGCCACCTTTGTGGGCATTGCTCACTGTGTCCAAGTGCCTGTCCAAGTGGGGCCGCCCACAGGACCGGTTGGCAGCTCAACCGGAGGCTCCTGGTGGTCCCATCAGCCCGGAGGGTCTGCTTCACGTGTGTCCCTCAAACAGTCGGGAGTCCTGACGTCCACTGGGGCCAGGAGTTGGCGGAATGAGGTCGCAGTGGCCGAGGGCTTTGGCCTCTTCTCGTGCCTTCAGGGATCCTCCCGGGGAGCCGCTTACCAGACAGGGTCAGGCTGCCTCTGAGCAGGTGGAGGCCCATGGCCCCTAGGGCACCACCCATAGTGGTGTTGCCCCCTCCCCAGCCAGGCCTTCCTGGGGGACAGTTAGGGAGCAGGGCCAGGCCAGGAAGCCACTCAGGCCACAGACCCACAGCCGGGCCAGCATGTTGCCACCTCCGTACAGTGGCCCAGGCAGAGGCTGACCCTATGGGGCACCCCAGCACGCCCACCCTGGGGTGTTGTTACACGGTGGCTGCTGGGGCACCAGGTGGTTCAGTGCAGTGGGGCACAGTCTCCAAGACCCAGAGGGCCCTGGGGTTTGGAGACGTGCCGATGCGGAGCCCACCACCTGCCAGACCCCGCAGGTTCCCGGCCGCCGTCTACGGCAGCTCACTCGGGGGGCCGGGCCTGGCCGCAGGGCACTGGGGAGGCAGGCTGCTGCTGCCTAGCCACACCTCCACCTTCACCTGCGCAGTAGGCACTCTGCCCCCAGGTGGCTTCCAGGAAACCAGGGTGACTCGGGCAACCCTCACTGTACCCACAGAGGCCCTGGGCCATACCTAGAGGTCCACAACCCCCATCTGGCAGCCTGGGGTGGTGCAGGAGTGGCAGAGTCTGCTCCCACA | GGCCCAGGATGCCTGCGGGGGGGGGGGGGGGGGCACTGGGATACCGGTGGGGGGGGCACAGGGATGCCTGCTGGTGGAGGGCACACAAGGATGCCCGTGGGGGACACTGTGATGTGGGTTGGGGGGGGGGGGGGCAGTATGGGGATGCCCACTGAGGGGGCACTGTGACTCCTGACCAGCAGAGAGTAGGGGCCTCCTCCCGCCTTCCATCCTCCCCGCCTTCCATCCTCTCCGCCTTCCATCCAGCCGTCCTCTCAGTCTCTTTCTGTGCACCTGCTGCACCAGCCTCCTCCCAGAGGAGGTCCTCCCCACCTCACCTCCGCACCCCCGGCTGCACTGCCCACCTCCCCTGCTCCACCCACGCTCAGGCCCTGGTGCATTGCAGGATGGACAATGGGGAGGCCTGCTTCATCCTCAGCAGCAGGAACGAGGTGGACCGCACGGCTGCAGTGAGTGAGGCTGAGGCCCTGCCCAGGCGGGAGGGGCACCGTGGGGCCGGGGAGCGGGGGTCCCTGAGGGAAGAGACCTGCCCCAGGCTGCCGGTGCCGCCCAGCAGCCCACAGAGGCCAGCCCGTCTGCACTGACCAACCACCCACCCCGCCAGGACCACCAGACCATCCTGCGCGCCTGGGCCGTGAAGGACTTCGCCCCCAACTGCCCCCTCTACGTCCAGATCCTCAAACCTGAAAACAAGTTTCACGTCAAGTTTGCTGGTGCGTCTGGGGCACACGTGGGTGATGGTGTATCTGGGGCAGGGCACGTGTGCACACGTGGGTGATGGTGCATCTGGGGCAGGGCGCATGTGCACATGTGTGACGGTGCGTCTGGGGCAGGACGCGTGTGCACACGTGGGTGACGGTGCGTCTGGGGCAGGATGCGTGTGCACACGTGGGTGTCGGTGCGTCTGGGGCAGGGCGCATGTGCACACGTGGGTGACGGTGCGTCTGGGGCAGGGCGCGTGTGCACACGTGGGTGACAGTGCATCTGGGGCAGGGCACGTGTGCACGTGTGTGTCGGTGTGTCTGGGGCAGGGCGCGTGTGCATGCTGTTGGGTGATGGTGCGTCTGGGGCAGGGCGCGTGTGCACACGTGGGTGACGGTGTGTCTGGGGCAGGGCGCATGTGCACGCAGTTAGGCGAGCTGTGTGGGGCAGCGGGAGGGGCTGGCCCTGGAGCTCCTCACACAAGCACACCAGGAGGTGCTGGAGGGGACGGCAGACCCCCATCCTCACCGCATCCGAGAAGGGACCTAGGGGGTCCAAACTCTTCAGATGAAGTCTTATGCTGGGATCCTGGGGTCAGTGAAGGCAGGGTCAGAGGTCAGGTGGGGGCAGGAGCACCGTCTGATGAGCACCTCTATGGGCAGGGACCATGCCGGGTGCCCGGGGAACGGGGGGCAGGCCCCATGCCAGGTGCCCAGGGGACAGGGGTCAGGGCCCACATGGAGTGCCCAAGGCACAGGGGCCAGGGCCTGCCCCGCCCTGGAACTCCTCGCTGAGCTGGGAGAGAAGCACAGGAGCGATGGAAGGTCCACCGAGGCTCAGACCAAGTAGGGGGTTGAGGTCCACAGACTCTCGGGGCAGAGATGCTGAAGCCGGACAGCAGACACGGGGGTGCCAGGCAAGGGTGCATCTGCATAGCACCTTCAGGAAGTGAGCAGGTACTGTGGGGGAGGAGAGAGCCGGCAGAGCGGCAGGTGGACCGGCCTCCCCCACTGCCCGCAGACCACGTGGTGTGTGAGGAGGAGTGCAAGTACGCCATGCTGGCGCTGAACTGCATCTGCCCGGCGACCTCCACCCTCATCACCCTGCTGGTGCACACGTCCCGCGGCCAGTGAGTGCCCCGTGCCCCGGGGGACCGACCTCCATGGCGGGGCCGGCGCAGGGAGACAACGCAGGGCCTGCTTGGGGGCGGGGATGGGCTTCCCAGAGGAGGGGCACATGGCGGGCAAAAGTCCTGCATAGGGAGGGGATCCATGCCAGGGGAAGCAGAGGGGGGCACCTGCAGACCCAGCCGGGGAGAAGGGGCAGCCATGGCCGAGGGTGACGCTCCCCTGGCCCACAGGGAGGGACAGGAGTCTCCGGAGCAGTGGCAGCGCATGTATGGGCGCTGCTCCGGCAACGAGGTGTACCACATCCGCATGGGTGACAGCAAGTTCTTCCGCGAGTACGAGGGCAAGAGCTTCACCTACGCGGCCTTCCACGCCCACAAGAAGTAAGGCCGGGCTGCATCCACAGGGCTGGCGCTCCAGGGCTGCTCTGCTCTGTGCCCTCCCCACCCTCCCGGTCAGGCACAGGGGTGGCCCTGGGGCGGGGCTGCAGAGGGCTCGGGGGAGGGCATCAGGTCATCCTGCCTGGCGAGGGCAGCCGCAGGACTGGGCTCCGGGTCCACATAAAAACCTGCCACGCGGCTCCTCCCTGAGGCTTGTGGGCTGACCCCAGCTCTCTGGTCCCCAACACCTCTGGGACGGGAGGGCTCAGCCAAGGTCCCTGACCCCAAATGGCCCCCAGGAGGAAGACGCGGAGCTCCGGTGGGGACTCTGGTGATTTGCAGGAAGGGCAGGCAGGGAGCGGGACAGGGCGGGTGAGCGGCGGTACCTGAAGTTGCCGGTGCCTCTGCCCAGGTATGGCGTGTGCCTCATCGGGCTGAAGCGGGAGGACAACAAGAGCATCCTGCTGAACCCGGGGCCCCGGCACATCCTGGCCGCCTCTGACACCTGCTTCTACATCAACATCACCAAGGAGGAGAACTCGGCCTTCATCTTCAAGCAGGAGGAGAAGCGGAAGAAGAGGGCCTTCTCGGGGCAGGGGCTGCACGAGGGTCCGGCCCGCCTGCCCGTGCACAGCATCATCGCCTCCATGGGTGAGCCGGGACAGGCGCGCGGGACTCCCTGGGCCTGCTCCTTTGGCGGGAGACCAGGCGGGACACCGGCAGGTGACCAGGTGGGATGGGAGACCAGGCAGGACAGGGGGAGGTGACCAGGTGGGACAGGAGACCAGGCAGGACAGGGGCAGGTGACCAGGTGGGACGGGAGACCAGGCAGGGCGGGAGACCAGGTGGGACAGGAGACCAGACCGGGCAGGGCAGGAGACCAGGCCAATGTGGCCCCCAGACCCAGTTCCTCTTGGCCTATGCCTCCAACCTTGGACAGGTGGAGTCTCTCTGGGCCTGTTTTTGAATCTGTCAAACAGGTGTCCCCGCCTTCCTGTGGCCACCTTTGTGGGCATTGCTCACTGTGTCCAAGTGCCTGTCCAAGTGGGGCCGCCCACAGGACCGGTTGGCAGCTCAACCGGAGGCTCCTGGTGGTCCCATCAGCCCGGAGGGTCTGCTTCACGTGTGTCCCTCAAACAGTCGGGAGTCCTGACGTCCACTGGGGCCAGGAGTTGGCGGAATGAGGTCGCAGTGGCCGAGGGCTTTGGCCTCTTCTCGTGCCTTCAGGGATCCTCCCGGGGAGCCGCTTACCAGACAGGGTCAGGCTGCCTCTGAGCAGGTGGAGGCCCATGGCCCCTAGGGCACCACCCATAGTGGTGTTGCCCCCTCCCCAGCCAGGCCTTCCTGGGGGACAGTTAGGGAGCAGGGCCAGGCCAGGAAGCCACTCAGGCCACAGACCCACAGCCGGGCCAGCATGTTGCCACCTCCGTACAGTGGCCCAGGCAGAGGCTGACCCTATGGGGCACCCCAGCACGCCCACCCTGGGGTGTTGTTACACGGTGGCTGCTGGGGCACCAGGTGGTTCAGTGCAGTGGGGCACAGTCTCCAAGACCCAGAGGGCCCTGGGGTTTGGAGACGTGCCGATGCGGAGCCCACCACCTGCCAGACCCCGCAGGTTCCCGGCCGCCGTCTACGGCAGCTCACTCGGGGGGCCGGGCCTGGCCGCAGGGCACTGGGGAGGCAGGCTGCTGCTGCCTAGCCACACCTCCACCTTCACCTGCGCAGTAGGCACTCTGCCCCCAGGTGGCTTCCAGGAAACCAGGGTGACTCGGGCAACCCTCACTGTACCCACAGAGGCCCTGGGCCATACCTAGAGGTCCACAACCCCCATCTGGCAGCCTGGGGTGGTGCAGGAGTGGCAGAGTCTGCTCCCACANNNNNNNNNNN | benign | 154,722 |
Does the chromosome 9 mutation at position 135770283 within gene KCNT1 (potassium sodium-activated channel subfamily T member 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | GCCTGCGGGGGGGGGGGGGGGGGCACTGGGATACCGGTGGGGGGGGCACAGGGATGCCTGCTGGTGGAGGGCACACAAGGATGCCCGTGGGGGACACTGTGATGTGGGTTGGGGGGGGGGGGGGCAGTATGGGGATGCCCACTGAGGGGGCACTGTGACTCCTGACCAGCAGAGAGTAGGGGCCTCCTCCCGCCTTCCATCCTCCCCGCCTTCCATCCTCTCCGCCTTCCATCCAGCCGTCCTCTCAGTCTCTTTCTGTGCACCTGCTGCACCAGCCTCCTCCCAGAGGAGGTCCTCCCCACCTCACCTCCGCACCCCCGGCTGCACTGCCCACCTCCCCTGCTCCACCCACGCTCAGGCCCTGGTGCATTGCAGGATGGACAATGGGGAGGCCTGCTTCATCCTCAGCAGCAGGAACGAGGTGGACCGCACGGCTGCAGTGAGTGAGGCTGAGGCCCTGCCCAGGCGGGAGGGGCACCGTGGGGCCGGGGAGCGGGGGTCCCTGAGGGAAGAGACCTGCCCCAGGCTGCCGGTGCCGCCCAGCAGCCCACAGAGGCCAGCCCGTCTGCACTGACCAACCACCCACCCCGCCAGGACCACCAGACCATCCTGCGCGCCTGGGCCGTGAAGGACTTCGCCCCCAACTGCCCCCTCTACGTCCAGATCCTCAAACCTGAAAACAAGTTTCACGTCAAGTTTGCTGGTGCGTCTGGGGCACACGTGGGTGATGGTGTATCTGGGGCAGGGCACGTGTGCACACGTGGGTGATGGTGCATCTGGGGCAGGGCGCATGTGCACATGTGTGACGGTGCGTCTGGGGCAGGACGCGTGTGCACACGTGGGTGACGGTGCGTCTGGGGCAGGATGCGTGTGCACACGTGGGTGTCGGTGCGTCTGGGGCAGGGCGCATGTGCACACGTGGGTGACGGTGCGTCTGGGGCAGGGCGCGTGTGCACACGTGGGTGACAGTGCATCTGGGGCAGGGCACGTGTGCACGTGTGTGTCGGTGTGTCTGGGGCAGGGCGCGTGTGCATGCTGTTGGGTGATGGTGCGTCTGGGGCAGGGCGCGTGTGCACACGTGGGTGACGGTGTGTCTGGGGCAGGGCGCATGTGCACGCAGTTAGGCGAGCTGTGTGGGGCAGCGGGAGGGGCTGGCCCTGGAGCTCCTCACACAAGCACACCAGGAGGTGCTGGAGGGGACGGCAGACCCCCATCCTCACCGCATCCGAGAAGGGACCTAGGGGGTCCAAACTCTTCAGATGAAGTCTTATGCTGGGATCCTGGGGTCAGTGAAGGCAGGGTCAGAGGTCAGGTGGGGGCAGGAGCACCGTCTGATGAGCACCTCTATGGGCAGGGACCATGCCGGGTGCCCGGGGAACGGGGGGCAGGCCCCATGCCAGGTGCCCAGGGGACAGGGGTCAGGGCCCACATGGAGTGCCCAAGGCACAGGGGCCAGGGCCTGCCCCGCCCTGGAACTCCTCGCTGAGCTGGGAGAGAAGCACAGGAGCGATGGAAGGTCCACCGAGGCTCAGACCAAGTAGGGGGTTGAGGTCCACAGACTCTCGGGGCAGAGATGCTGAAGCCGGACAGCAGACACGGGGGTGCCAGGCAAGGGTGCATCTGCATAGCACCTTCAGGAAGTGAGCAGGTACTGTGGGGGAGGAGAGAGCCGGCAGAGCGGCAGGTGGACCGGCCTCCCCCACTGCCCGCAGACCACGTGGTGTGTGAGGAGGAGTGCAAGTACGCCATGCTGGCGCTGAACTGCATCTGCCCGGCGACCTCCACCCTCATCACCCTGCTGGTGCACACGTCCCGCGGCCAGTGAGTGCCCCGTGCCCCGGGGGACCGACCTCCATGGCGGGGCCGGCGCAGGGAGACAACGCAGGGCCTGCTTGGGGGCGGGGATGGGCTTCCCAGAGGAGGGGCACATGGCGGGCAAAAGTCCTGCATAGGGAGGGGATCCATGCCAGGGGAAGCAGAGGGGGGCACCTGCAGACCCAGCCGGGGAGAAGGGGCAGCCATGGCCGAGGGTGACGCTCCCCTGGCCCCGCCCTGGCCCACAGGGAGGGACAGGAGTCTCCGGAGCAGTGGCAGCGCATGTATGGGCGCTGCTCCGGCAACGAGGTGTACCACATCCGCATGGGTGACAGCAAGTTCTTCCGCGAGTACGAGGGCAAGAGCTTCACCTACGCGGCCTTCCACGCCCACAAGAAGTAAGGCCGGGCTGCATCCACAGGGCTGGCGCTCCAGGGCTGCTCTGCTCTGTGCCCTCCCCACCCTCCCGGTCAGGCACAGGGGTGGCCCTGGGGCGGGGCTGCAGAGGGCTCGGGGGAGGGCATCAGGTCATCCTGCCTGGCGAGGGCAGCCGCAGGACTGGGCTCCGGGTCCACATAAAAACCTGCCACGCGGCTCCTCCCTGAGGCTTGTGGGCTGACCCCAGCTCTCTGGTCCCCAACACCTCTGGGACGGGAGGGCTCAGCCAAGGTCCCTGACCCCAAATGGCCCCCAGGAGGAAGACGCGGAGCTCCGGTGGGGACTCTGGTGATTTGCAGGAAGGGCAGGCAGGGAGCGGGACAGGGCGGGTGAGCGGCGGTACCTGAAGTTGCCGGTGCCTCTGCCCAGGTATGGCGTGTGCCTCATCGGGCTGAAGCGGGAGGACAACAAGAGCATCCTGCTGAACCCGGGGCCCCGGCACATCCTGGCCGCCTCTGACACCTGCTTCTACATCAACATCACCAAGGAGGAGAACTCGGCCTTCATCTTCAAGCAGGAGGAGAAGCGGAAGAAGAGGGCCTTCTCGGGGCAGGGGCTGCACGAGGGTCCGGCCCGCCTGCCCGTGCACAGCATCATCGCCTCCATGGGTGAGCCGGGACAGGCGCGCGGGACTCCCTGGGCCTGCTCCTTTGGCGGGAGACCAGGCGGGACACCGGCAGGTGACCAGGTGGGATGGGAGACCAGGCAGGACAGGGGGAGGTGACCAGGTGGGACAGGAGACCAGGCAGGACAGGGGCAGGTGACCAGGTGGGACGGGAGACCAGGCAGGGCGGGAGACCAGGTGGGACAGGAGACCAGACCGGGCAGGGCAGGAGACCAGGCCAATGTGGCCCCCAGACCCAGTTCCTCTTGGCCTATGCCTCCAACCTTGGACAGGTGGAGTCTCTCTGGGCCTGTTTTTGAATCTGTCAAACAGGTGTCCCCGCCTTCCTGTGGCCACCTTTGTGGGCATTGCTCACTGTGTCCAAGTGCCTGTCCAAGTGGGGCCGCCCACAGGACCGGTTGGCAGCTCAACCGGAGGCTCCTGGTGGTCCCATCAGCCCGGAGGGTCTGCTTCACGTGTGTCCCTCAAACAGTCGGGAGTCCTGACGTCCACTGGGGCCAGGAGTTGGCGGAATGAGGTCGCAGTGGCCGAGGGCTTTGGCCTCTTCTCGTGCCTTCAGGGATCCTCCCGGGGAGCCGCTTACCAGACAGGGTCAGGCTGCCTCTGAGCAGGTGGAGGCCCATGGCCCCTAGGGCACCACCCATAGTGGTGTTGCCCCCTCCCCAGCCAGGCCTTCCTGGGGGACAGTTAGGGAGCAGGGCCAGGCCAGGAAGCCACTCAGGCCACAGACCCACAGCCGGGCCAGCATGTTGCCACCTCCGTACAGTGGCCCAGGCAGAGGCTGACCCTATGGGGCACCCCAGCACGCCCACCCTGGGGTGTTGTTACACGGTGGCTGCTGGGGCACCAGGTGGTTCAGTGCAGTGGGGCACAGTCTCCAAGACCCAGAGGGCCCTGGGGTTTGGAGACGTGCCGATGCGGAGCCCACCACCTGCCAGACCCCGCAGGTTCCCGGCCGCCGTCTACGGCAGCTCACTCGGGGGGCCGGGCCTGGCCGCAGGGCACTGGGGAGGCAGGCTGCTGCTGCCTAGCCACACCTCCACCTTCACCTGCGCAGTAGGCACTCTGCCCCCAGGTGGCTTCCAGGAAACCAGGGTGACTCGGGCAACCCTCACTGTACCCACAGAGGCCCTGGGCCATACCTAGAGGTCCACAACCCCCATCTGGCAGCCTGGGGTGGTGCAGGAGTGGCAGAGTCTGCTCCCACAGGCACTGAGT | GCCTGCGGGGGGGGGGGGGGGGGCACTGGGATACCGGTGGGGGGGGCACAGGGATGCCTGCTGGTGGAGGGCACACAAGGATGCCCGTGGGGGACACTGTGATGTGGGTTGGGGGGGGGGGGGGCAGTATGGGGATGCCCACTGAGGGGGCACTGTGACTCCTGACCAGCAGAGAGTAGGGGCCTCCTCCCGCCTTCCATCCTCCCCGCCTTCCATCCTCTCCGCCTTCCATCCAGCCGTCCTCTCAGTCTCTTTCTGTGCACCTGCTGCACCAGCCTCCTCCCAGAGGAGGTCCTCCCCACCTCACCTCCGCACCCCCGGCTGCACTGCCCACCTCCCCTGCTCCACCCACGCTCAGGCCCTGGTGCATTGCAGGATGGACAATGGGGAGGCCTGCTTCATCCTCAGCAGCAGGAACGAGGTGGACCGCACGGCTGCAGTGAGTGAGGCTGAGGCCCTGCCCAGGCGGGAGGGGCACCGTGGGGCCGGGGAGCGGGGGTCCCTGAGGGAAGAGACCTGCCCCAGGCTGCCGGTGCCGCCCAGCAGCCCACAGAGGCCAGCCCGTCTGCACTGACCAACCACCCACCCCGCCAGGACCACCAGACCATCCTGCGCGCCTGGGCCGTGAAGGACTTCGCCCCCAACTGCCCCCTCTACGTCCAGATCCTCAAACCTGAAAACAAGTTTCACGTCAAGTTTGCTGGTGCGTCTGGGGCACACGTGGGTGATGGTGTATCTGGGGCAGGGCACGTGTGCACACGTGGGTGATGGTGCATCTGGGGCAGGGCGCATGTGCACATGTGTGACGGTGCGTCTGGGGCAGGACGCGTGTGCACACGTGGGTGACGGTGCGTCTGGGGCAGGATGCGTGTGCACACGTGGGTGTCGGTGCGTCTGGGGCAGGGCGCATGTGCACACGTGGGTGACGGTGCGTCTGGGGCAGGGCGCGTGTGCACACGTGGGTGACAGTGCATCTGGGGCAGGGCACGTGTGCACGTGTGTGTCGGTGTGTCTGGGGCAGGGCGCGTGTGCATGCTGTTGGGTGATGGTGCGTCTGGGGCAGGGCGCGTGTGCACACGTGGGTGACGGTGTGTCTGGGGCAGGGCGCATGTGCACGCAGTTAGGCGAGCTGTGTGGGGCAGCGGGAGGGGCTGGCCCTGGAGCTCCTCACACAAGCACACCAGGAGGTGCTGGAGGGGACGGCAGACCCCCATCCTCACCGCATCCGAGAAGGGACCTAGGGGGTCCAAACTCTTCAGATGAAGTCTTATGCTGGGATCCTGGGGTCAGTGAAGGCAGGGTCAGAGGTCAGGTGGGGGCAGGAGCACCGTCTGATGAGCACCTCTATGGGCAGGGACCATGCCGGGTGCCCGGGGAACGGGGGGCAGGCCCCATGCCAGGTGCCCAGGGGACAGGGGTCAGGGCCCACATGGAGTGCCCAAGGCACAGGGGCCAGGGCCTGCCCCGCCCTGGAACTCCTCGCTGAGCTGGGAGAGAAGCACAGGAGCGATGGAAGGTCCACCGAGGCTCAGACCAAGTAGGGGGTTGAGGTCCACAGACTCTCGGGGCAGAGATGCTGAAGCCGGACAGCAGACACGGGGGTGCCAGGCAAGGGTGCATCTGCATAGCACCTTCAGGAAGTGAGCAGGTACTGTGGGGGAGGAGAGAGCCGGCAGAGCGGCAGGTGGACCGGCCTCCCCCACTGCCCGCAGACCACGTGGTGTGTGAGGAGGAGTGCAAGTACGCCATGCTGGCGCTGAACTGCATCTGCCCGGCGACCTCCACCCTCATCACCCTGCTGGTGCACACGTCCCGCGGCCAGTGAGTGCCCCGTGCCCCGGGGGACCGACCTCCATGGCGGGGCCGGCGCAGGGAGACAACGCAGGGCCTGCTTGGGGGCGGGGATGGGCTTCCCAGAGGAGGGGCACATGGCGGGCAAAAGTCCTGCATAGGGAGGGGATCCATGCCAGGGGAAGCAGAGGGGGGCACCTGCAGACCCAGCCGGGGAGAAGGGGCAGCCATGGCCGAGGGTGACGCTCCCCTGGCCCCGCCCTGGCCCTGGCCCACAGGGAGGGACAGGAGTCTCCGGAGCAGTGGCAGCGCATGTATGGGCGCTGCTCCGGCAACGAGGTGTACCACATCCGCATGGGTGACAGCAAGTTCTTCCGCGAGTACGAGGGCAAGAGCTTCACCTACGCGGCCTTCCACGCCCACAAGAAGTAAGGCCGGGCTGCATCCACAGGGCTGGCGCTCCAGGGCTGCTCTGCTCTGTGCCCTCCCCACCCTCCCGGTCAGGCACAGGGGTGGCCCTGGGGCGGGGCTGCAGAGGGCTCGGGGGAGGGCATCAGGTCATCCTGCCTGGCGAGGGCAGCCGCAGGACTGGGCTCCGGGTCCACATAAAAACCTGCCACGCGGCTCCTCCCTGAGGCTTGTGGGCTGACCCCAGCTCTCTGGTCCCCAACACCTCTGGGACGGGAGGGCTCAGCCAAGGTCCCTGACCCCAAATGGCCCCCAGGAGGAAGACGCGGAGCTCCGGTGGGGACTCTGGTGATTTGCAGGAAGGGCAGGCAGGGAGCGGGACAGGGCGGGTGAGCGGCGGTACCTGAAGTTGCCGGTGCCTCTGCCCAGGTATGGCGTGTGCCTCATCGGGCTGAAGCGGGAGGACAACAAGAGCATCCTGCTGAACCCGGGGCCCCGGCACATCCTGGCCGCCTCTGACACCTGCTTCTACATCAACATCACCAAGGAGGAGAACTCGGCCTTCATCTTCAAGCAGGAGGAGAAGCGGAAGAAGAGGGCCTTCTCGGGGCAGGGGCTGCACGAGGGTCCGGCCCGCCTGCCCGTGCACAGCATCATCGCCTCCATGGGTGAGCCGGGACAGGCGCGCGGGACTCCCTGGGCCTGCTCCTTTGGCGGGAGACCAGGCGGGACACCGGCAGGTGACCAGGTGGGATGGGAGACCAGGCAGGACAGGGGGAGGTGACCAGGTGGGACAGGAGACCAGGCAGGACAGGGGCAGGTGACCAGGTGGGACGGGAGACCAGGCAGGGCGGGAGACCAGGTGGGACAGGAGACCAGACCGGGCAGGGCAGGAGACCAGGCCAATGTGGCCCCCAGACCCAGTTCCTCTTGGCCTATGCCTCCAACCTTGGACAGGTGGAGTCTCTCTGGGCCTGTTTTTGAATCTGTCAAACAGGTGTCCCCGCCTTCCTGTGGCCACCTTTGTGGGCATTGCTCACTGTGTCCAAGTGCCTGTCCAAGTGGGGCCGCCCACAGGACCGGTTGGCAGCTCAACCGGAGGCTCCTGGTGGTCCCATCAGCCCGGAGGGTCTGCTTCACGTGTGTCCCTCAAACAGTCGGGAGTCCTGACGTCCACTGGGGCCAGGAGTTGGCGGAATGAGGTCGCAGTGGCCGAGGGCTTTGGCCTCTTCTCGTGCCTTCAGGGATCCTCCCGGGGAGCCGCTTACCAGACAGGGTCAGGCTGCCTCTGAGCAGGTGGAGGCCCATGGCCCCTAGGGCACCACCCATAGTGGTGTTGCCCCCTCCCCAGCCAGGCCTTCCTGGGGGACAGTTAGGGAGCAGGGCCAGGCCAGGAAGCCACTCAGGCCACAGACCCACAGCCGGGCCAGCATGTTGCCACCTCCGTACAGTGGCCCAGGCAGAGGCTGACCCTATGGGGCACCCCAGCACGCCCACCCTGGGGTGTTGTTACACGGTGGCTGCTGGGGCACCAGGTGGTTCAGTGCAGTGGGGCACAGTCTCCAAGACCCAGAGGGCCCTGGGGTTTGGAGACGTGCCGATGCGGAGCCCACCACCTGCCAGACCCCGCAGGTTCCCGGCCGCCGTCTACGGCAGCTCACTCGGGGGGCCGGGCCTGGCCGCAGGGCACTGGGGAGGCAGGCTGCTGCTGCCTAGCCACACCTCCACCTTCACCTGCGCAGTAGGCACTCTGCCCCCAGGTGGCTTCCAGGAAACCAGGGTGACTCGGGCAACCCTCACTGTACCCACAGAGGCCCTGGGCCATACCTAGAGGTCCACAACCCCCATCTGGCAGCCTGGGGTGGTGCAGGAGTGGCAGAGTCTGCTCCCACAGGCA | benign | 154,725 |
Mutation at chromosome 9, position 135777529, within KCNT1 (potassium sodium-activated channel subfamily T member 1): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | CCTGGTTTCTCTTTGGTCACTTTACATTTCGATACCATTGCAAACTTCTAGCACAGCTGCAAGAATTCTGCAAGGGAGAGCCACAGATCCTTCACCCAGATTCAGCAGACGGTCCCTTCCTGTCCCGTTTGGGCTCTCCCTCTCACAGTGTCTATGTTAGAGGCACCTGTTTTCTGAGCCATCTTGAGAACAGGTTGGAGCCACCACACCCCTTTCCCCTAATACATCTACATGCGTTCCCAAAGATCAAGAACCATCTCGTAACTACAGCTCATTAGGACAGGGACCCCGGCCCGGCATGGGTGTCTGATCCACAGTCCAAGTTCAGATTGGGCCGAGGGCCCCGAAGGCCTTCAGCGTCCTGCGTGGCAGTGTTTTCCCCACCGGGAGCCTGTCCCGGCTGCGTCTTAGCAACTCCTTTCTCGTTACTCTCCCTTAATCTGGAATGTTCCCTGGGGTCTCTTGACCTTAATATTTTTGCAGAGCAGGGACCAGTGACCTGGTGGCAGGTGGGTCTGCGATGTTTCTTGGTGGTGGGACTCTGCCTGCATGTGGGGCCAGCCCTCCCTGGAAACTCGGGGGTCAATTGTCAGGTCACTGGCGATGTTTACTTGGATCTCATGGCAAGCTGGGGTCAGTAGGGTTTCCCCACTGTGAAAATGACTGTTTTCCTTCTGGAGTTAGCAGCTTCTCTGTGGGGGACGTGTTGAGATCAGGAAAGCAAACCACTCGACCCAGCGGCTTCAACATCCCTCAGTGGGTTCTTTTTTGTTTATTTGTTGTTTGGTTTTTTTTAAGACGGGGTCCCACTCTGTCATCCAGGCTGGAGTGCAGTGGTGGGATCATAGCTCACTACAGCCTCCACCTCCCAGGCTCAAGGGGTCCTCCCACCTCAGCCTCCCAAGTGGCTGGGAACACAGGCACGCACCACCACACCTGGCTAATTTTATTTATTTATTTATTTTTTGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGACTCAAGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCATGCCTGCCATCTGTGGATGGTTTCCAGTTCCGGAATCTCTCTCCAGCTGTGTGTTAGGGCTCGGCCACGGAGGGGACCTCCCCTTCCCCATGTGTGTGTGTCCTTCACGGACCACAGGCTCCCAGCATATTCTGTGGGTTATAATCTGTGGCCGGTCATTGCAGTAGCATCATCCTTGACAGATCGTTATTGATTCTGATGCTCGGACCCCCTCAGTTCACTGGGTGGGGTGGGGGCCTTCAAGCGGCTTCTGGGTGCTTCTGACACGATCCCCTCACCCTTTGAGCTCATCTGTGCTTTCCAACCGGAGATGTTCCAGCCACATCTTGGCCTTCGCCTGCTCCAGTCTGGAATGAACCACTTCTCCAAGGAACCCTGATTCCTTTTAGTGGAAAATGATGATTGGAAACCAAGACCTGGGCACGTGGCGTGCTCACTGCTGTTGGCATCCCTGCTCTGAGAAAACGTGTGTGCATACACATGACACGTATCTATGCCCACACCTAGATCTCTAGCCACATGCCAAAACCACATGTTCACATGGACACCGCCCTTTCCACCCCTGACATGACTGCTCTGTGCCGCCTGTGGGTACAGCTGTGGCATCTGGTGGTGCCTGTAGCTCCCCACAGGCGTGTGCAGGCCGTGAAAGGGCTGTGGGCCGAGAGGCTAACGGCTGGGTGTTCACGGGGGATGTTTGGTGAGGGGTCTGGGAGGGCTCCAGTGGCCAGCAGGAACCACAGCCCTGACTCCAGCCCTGACTCCAGCATCTGCCCCCAGGGCTGCAAGCACAACAGCTATGAAGACGCCAAGGCCTACGGGTTCAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAACTCCTCCTGCTCCCAGCTCCTCCCCACACCCACTCCTGCTCCCAGCTCCTCCCCACCCCCAGCTCCTCTGGCTCCTGGGTCCTCCCTGCTCCCTGTTCCCCCAGTTCCCAGCTCCACCCAACTCCCAGCTCCTCCTTGCTTCCAGCTCCCCCAGTTCCCAGCTACTCTCCATTCCCAGCTCCTCCCCACTCCCAGCTTCTCCCCACTCCCAGTTCCCCCTCACTCCCAGCTCCTCCCTGCTCCCAGTTCCTCTGGCCACCAGCTCCTCCCCACTCCCAGTTCCTCTGTCTCCCAGCTCCTCCATGCTCTCAGCTCCTGTGGCTCCCAGCTCCTCCCACTCTGGTCCTCTCTCCCCCTTTCCCCCTCCTCCCTTGTCACTCCTTCTGTCCTGTTTGCCTCCTGCTCCACTCACTCTGAGCCCCAGGATTGGGGTGGAGGGATAAATGGCTCTTCCTCCTGGGCACCTTTTTGCCCAGGGGACCCTAGGACCCTGACAGCTGAGCCCAGGGTCATCTTGGCTGTGTGACCTCAGCAGGTCCCACCCTCCCGGGCCTTGGTTTCCCCTTGAATAAAATAAAGAATGGCCCACTGGCCTTAAAGTACTCCCCAGGTCCCATACGCTGCGGTTCTGGGGAACCCCTGCCTGGCCCAGCTCTGTGCATGGAGGGTAGGGCCCCACTGGGCCTGAGGAGGGCAGGCCTTGAAGCAGGGTGGGCCCCTCCAGGACCGCTGTCCCCACAGGCCCGACCACCACTTCCTGGAAGCCATCTGCTGCTTCCCCATGGTCTACTACATGGAGGGCTCTGTGGACAAGTAAGGCGTGGCCGGCCGAGGCTCGTGGGGGCTCCACACCCACCCCTCCCCTCCTCTTCCAAAGTCTGGGGTGACCCCGACCGCAGGTGGGGTGGGGGGCTGAGGTCCTCCTGCCTTCTGACCAAATCCCGGGGTCCTGTGGGTGGGGAGTGGGCCGCATCCTCAGCCACGGGCCCTCGGTCCCGCCACCAGCCTGGACAGCCTGCTGCAGTGTGGCATCATCTATGCGGACAACCTGGTGGTGGTGGACAAGGAGAGCACCATGAGCGCCGAGGAGGACTACATGGCGGACGCCAAGACCATCGTCAACGTGCAGACCATGTTCCGGTGCGTCCAGTGTCCGGGGCTCGGCTCTAAACCACCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCGCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCTATGACCACAAGCCCCCACCCTGAAACCCCCACAACCACAGCCATGGGACCACACCCTGAGACCCCCACAGCCATGGACTCTGCCCAGAGACCCCCACAGCCACGACCACAAGCCCTCCACCCTGAGAGTCCCACAGCCATGACCATGGGCCTCTGCCCTGAGACCCCCCACAGCCGTGGGACCCTGCCCTGAGACCCCCATAGCCAAGACAGTGGGCCCTGCCCTGAGACCCCCCCACAGCCATGGGACCCCGCCCTGAGACCCCCACAGCCACATGATCATGGGCCCCCACCCTGAGACCTCCTACAACCACCATGGGCCCCGCCCTGAGCCGCCTGCCTCCCCCAGGCTCTTCCCCAGCCTCAGCATCACCACGGAGCTCACCCACCCTTCCAACATGCGCTTCATGCAGTTCCGCGCCAAGGACAGCTACTCTCTGGCTCTTTCCAAACTAGAAAAGGTGAGCAGCCCTGCCCCGTGCCAGCTGCCACCCCAGAATCCCAGAAAGAGTGGGAGAAAGGGGCTCAGGGGAAAGGGGGCCAGTGCCATGGGAGGCTGGGCTCCTG | CCTGGTTTCTCTTTGGTCACTTTACATTTCGATACCATTGCAAACTTCTAGCACAGCTGCAAGAATTCTGCAAGGGAGAGCCACAGATCCTTCACCCAGATTCAGCAGACGGTCCCTTCCTGTCCCGTTTGGGCTCTCCCTCTCACAGTGTCTATGTTAGAGGCACCTGTTTTCTGAGCCATCTTGAGAACAGGTTGGAGCCACCACACCCCTTTCCCCTAATACATCTACATGCGTTCCCAAAGATCAAGAACCATCTCGTAACTACAGCTCATTAGGACAGGGACCCCGGCCCGGCATGGGTGTCTGATCCACAGTCCAAGTTCAGATTGGGCCGAGGGCCCCGAAGGCCTTCAGCGTCCTGCGTGGCAGTGTTTTCCCCACCGGGAGCCTGTCCCGGCTGCGTCTTAGCAACTCCTTTCTCGTTACTCTCCCTTAATCTGGAATGTTCCCTGGGGTCTCTTGACCTTAATATTTTTGCAGAGCAGGGACCAGTGACCTGGTGGCAGGTGGGTCTGCGATGTTTCTTGGTGGTGGGACTCTGCCTGCATGTGGGGCCAGCCCTCCCTGGAAACTCGGGGGTCAATTGTCAGGTCACTGGCGATGTTTACTTGGATCTCATGGCAAGCTGGGGTCAGTAGGGTTTCCCCACTGTGAAAATGACTGTTTTCCTTCTGGAGTTAGCAGCTTCTCTGTGGGGGACGTGTTGAGATCAGGAAAGCAAACCACTCGACCCAGCGGCTTCAACATCCCTCAGTGGGTTCTTTTTTGTTTATTTGTTGTTTGGTTTTTTTTAAGACGGGGTCCCACTCTGTCATCCAGGCTGGAGTGCAGTGGTGGGATCATAGCTCACTACAGCCTCCACCTCCCAGGCTCAAGGGGTCCTCCCACCTCAGCCTCCCAAGTGGCTGGGAACACAGGCACGCACCACCACACCTGGCTAATTTTATTTATTTATTTATTTTTTGTAGTGATGGGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGACTCAAGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCATGCCTGCCATCTGTGGATGGTTTCCAGTTCCGGAATCTCTCTCCAGCTGTGTGTTAGGGCTCGGCCACGGAGGGGACCTCCCCTTCCCCATGTGTGTGTGTCCTTCACGGACCACAGGCTCCCAGCATATTCTGTGGGTTATAATCTGTGGCCGGTCATTGCAGTAGCATCATCCTTGACAGATCGTTATTGATTCTGATGCTCGGACCCCCTCAGTTCACTGGGTGGGGTGGGGGCCTTCAAGCGGCTTCTGGGTGCTTCTGACACGATCCCCTCACCCTTTGAGCTCATCTGTGCTTTCCAACCGGAGATGTTCCAGCCACATCTTGGCCTTCGCCTGCTCCAGTCTGGAATGAACCACTTCTCCAAGGAACCCTGATTCCTTTTAGTGGAAAATGATGATTGGAAACCAAGACCTGGGCACGTGGCGTGCTCACTGCTGTTGGCATCCCTGCTCTGAGAAAACGTGTGTGCATACACATGACACGTATCTATGCCCACACCTAGATCTCTAGCCACATGCCAAAACCACATGTTCACATGGACACCGCCCTTTCCACCCCTGACATGACTGCTCTGTGCCGCCTGTGGGTACAGCTGTGGCATCTGGTGGTGCCTGTAGCTCCCCACAGGCGTGTGCAGGCCGTGAAAGGGCTGTGGGCCGAGAGGCTAACGGCTGGGTGTTCACGGGGGATGTTTGGTGAGGGGTCTGGGAGGGCTCCAGTGGCCAGCAGGAACCACAGCCCTGACTCCAGCCCTGACTCCAGCATCTGCCCCCAGGGCTGCAAGCACAACAGCTATGAAGACGCCAAGGCCTACGGGTTCAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAACTCCTCCTGCTCCCAGCTCCTCCCCACACCCACTCCTGCTCCCAGCTCCTCCCCACCCCCAGCTCCTCTGGCTCCTGGGTCCTCCCTGCTCCCTGTTCCCCCAGTTCCCAGCTCCACCCAACTCCCAGCTCCTCCTTGCTTCCAGCTCCCCCAGTTCCCAGCTACTCTCCATTCCCAGCTCCTCCCCACTCCCAGCTTCTCCCCACTCCCAGTTCCCCCTCACTCCCAGCTCCTCCCTGCTCCCAGTTCCTCTGGCCACCAGCTCCTCCCCACTCCCAGTTCCTCTGTCTCCCAGCTCCTCCATGCTCTCAGCTCCTGTGGCTCCCAGCTCCTCCCACTCTGGTCCTCTCTCCCCCTTTCCCCCTCCTCCCTTGTCACTCCTTCTGTCCTGTTTGCCTCCTGCTCCACTCACTCTGAGCCCCAGGATTGGGGTGGAGGGATAAATGGCTCTTCCTCCTGGGCACCTTTTTGCCCAGGGGACCCTAGGACCCTGACAGCTGAGCCCAGGGTCATCTTGGCTGTGTGACCTCAGCAGGTCCCACCCTCCCGGGCCTTGGTTTCCCCTTGAATAAAATAAAGAATGGCCCACTGGCCTTAAAGTACTCCCCAGGTCCCATACGCTGCGGTTCTGGGGAACCCCTGCCTGGCCCAGCTCTGTGCATGGAGGGTAGGGCCCCACTGGGCCTGAGGAGGGCAGGCCTTGAAGCAGGGTGGGCCCCTCCAGGACCGCTGTCCCCACAGGCCCGACCACCACTTCCTGGAAGCCATCTGCTGCTTCCCCATGGTCTACTACATGGAGGGCTCTGTGGACAAGTAAGGCGTGGCCGGCCGAGGCTCGTGGGGGCTCCACACCCACCCCTCCCCTCCTCTTCCAAAGTCTGGGGTGACCCCGACCGCAGGTGGGGTGGGGGGCTGAGGTCCTCCTGCCTTCTGACCAAATCCCGGGGTCCTGTGGGTGGGGAGTGGGCCGCATCCTCAGCCACGGGCCCTCGGTCCCGCCACCAGCCTGGACAGCCTGCTGCAGTGTGGCATCATCTATGCGGACAACCTGGTGGTGGTGGACAAGGAGAGCACCATGAGCGCCGAGGAGGACTACATGGCGGACGCCAAGACCATCGTCAACGTGCAGACCATGTTCCGGTGCGTCCAGTGTCCGGGGCTCGGCTCTAAACCACCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCGCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCTATGACCACAAGCCCCCACCCTGAAACCCCCACAACCACAGCCATGGGACCACACCCTGAGACCCCCACAGCCATGGACTCTGCCCAGAGACCCCCACAGCCACGACCACAAGCCCTCCACCCTGAGAGTCCCACAGCCATGACCATGGGCCTCTGCCCTGAGACCCCCCACAGCCGTGGGACCCTGCCCTGAGACCCCCATAGCCAAGACAGTGGGCCCTGCCCTGAGACCCCCCCACAGCCATGGGACCCCGCCCTGAGACCCCCACAGCCACATGATCATGGGCCCCCACCCTGAGACCTCCTACAACCACCATGGGCCCCGCCCTGAGCCGCCTGCCTCCCCCAGGCTCTTCCCCAGCCTCAGCATCACCACGGAGCTCACCCACCCTTCCAACATGCGCTTCATGCAGTTCCGCGCCAAGGACAGCTACTCTCTGGCTCTTTCCAAACTAGAAAAGGTGAGCAGCCCTGCCCCGTGCCAGCTGCCACCCCAGAATCCCAGAAAGAGTGGGAGAAAGGGGCTCAGGGGAAAGGGGGCCAGTGCCATGGGAGGCT | benign | 154,817 |
Is the genetic variant on chromosome 9, position 135784482, gene KCNT1 (potassium sodium-activated channel subfamily T member 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | CTCACCAGGAGCCTTCCTTCAGGCTGGCTCTGCCCATCCTGGGGCTGCACGGTGCCTGTCCTGCTCCCTCTGACCGGGGGTCTCGTGCTCAGGAAGGGCTCATCCGCTCCTGTGTGCTCCTGTCTTCACTGTCACTTGTGAATGGCACCCGCTCAGCCCCTGCTGAAGCCCTCCTGTCCAGAAAGCAGGAGGAAATCTCTGGAAGGTCCTGAAACGTCCAGCTTTTTCTTTCCTTCCACGTCTCTCTCTGGCCCTGTCGTGGTTCTTGTTTCCTGTTTAGCGTTGTTCTGAGTAAAGGAAAATTAAAATTGCAAGTTGTTCTGGAATTTCACGTTCGTCTCCGCGAAGTACGGCTGGAATTCTGGATGCAAATCACCACGATTGCAAACTCACACGCCCATCGCAGCTCATCGCACCTGGTTCTTGCCCCAAGAGCGGAAACGCCGCACGAAACTAATTCCACTGTTTCTCACGCCCCAGCCTTCCCACCGGCCACTGATGAGTAAGGGCGAACCCGGAGGAAAAGGGGCTTCTGCCTGCTTGTCCTGTCGCTGTCGTGTCTTTTACCTGTGAATCGAGTTCTGGTTCCGGGGGGAAGTGTGGCCTCCGTGGGCGCACACGCCTGCCTGTGCACACTTGCTTGGAGGCCGAGCTCCAGGGTTGGGGCCCTCCGCTGAAGAATGACCCGAGAGTTGGCCACGGCCGGGTCCGGAGCCCGTGGATGTACCGCCTCACGTGACAGAAGGGCCTCTGCAGATGGGATTAAGTCACGGGCCTCGAGATGGGAGATCCTCCTGGAGCATCCGGCAGGTTCACGCCGTCAGGGTCCTTCTAGGGAGAGGCCAGAGGTCCCCATCCGGTGGGAAGAAGCTGCACGGCCAGCTCAGAAGAGGGAAGAGGGAGCCACAAGCCAAGGCAGGTGGCCTCCAGGAGCTGGAAAAGGCAAGAGAAGGAGGCCCCCAGGCCTCCAGAGGGAGCGGGGCCCTGCCCAGGCCTGGATCCAGCCTGAGACACCTCAAACTCCCGACTCCAGAAACGGGAGAGAGGAGACAGGTGTCGTTTTAGCTGCTAAGTTTGCGGTCATTTGTTACGGGAGCCCCAGGAAACTCAGTGGGTCCATTGCAAGCCTGGAGCACAGGGACGGGGAGGCCAAGGACAGCAGGGAGCCCGATGCTTGCTCCTCCTCAGCCCAGACTCCACACGCCCTCCGGCACCACTTACAAAACACCGGGGGAGGAGAGGATTATCAGGAGGATTTGGAATTTCGGGATGGCAAGAGCAGGGCGCTTGACCAAGCGCAGTGCCCATGGCAGCCGCCGGGAGTCCACCTTCTCATCAGAGCCCCACATCACTCCTCCCGGGCTCTGGCCCTGAGTGTGTCTGGGAAGATAGAGCTGGTTCAGGCCTGCCGGTGTATGCACACATGCAGACACACACTGTGTACACGTGGACACACACACCATGCACAAATGTGCACACAGGTATCATGCACACATGTACGGTGCACACACAGTGCCCTCGACCCCGTGGCTGCCGTGCCACTGGAGGGACCTCGGCACCAGCCCATCTGAGGCCCCTCCTTTCCCACAGAGGGAGCGAGAGAATGGCTCCAACCTGGCCTTCATGTTCCGCCTGCCGTTCGCCGCCGGCCGCGTCTTCAGCATCAGCATGTTGGACACACTGCTCTACCAGGTCAGCGGGGAAGCGGCAGCAGGAGGGTGGCGCCTGGGTGGGACCCCCGTCATGCCCTCAGCTCTTCAGCCTGGTCCCTGTTCTGAATGATAGGACTCCCTCTGAATGACCTTCCCTGGATTCCAAGGAGACCTCTGGGCCCTGTCCTTGCCCCAGGGATTTCTGGGCCCTTTTTGACCTATGGGTGCCTGGCAAGGGAGTTTTCTTAGAAAAGGCCTCCCAGAACTCTGCCTGTGGGTCATGTGGTGCTTGGGGACCTGGTGGTTCTGTGTGTGTGTATGCATGAGGGGTGGCGAGCCCGTGGCCGGTGGGGTATGGACCTGTGTCCCACGCCCGTGCCCGCGTGCCTCACTGTGGCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGGCCAGTCCTTCGTGAAGGACTACATGATCACCATCACCCGGCTGCTGCTGGGCCTGGACACCACGCCGGGCTCGGGGTACCTCTGTGCCGTAAGTGCCCCTGGCTGCGCTGGGCTGGGGGCGTGCTGGGCTGTCCAAGTGGGTGGATGGGCACCTGCCCCTGATTCACGGTGGCCAGGAGGCTCTGGGTGCTGCCACCTGCCCCAGCCAACTCAGGGTTCCCACCCTGCAGATGAAAATCACCGAGGGCGACCTGTGGATCCGCACGTACGGCCGCCTCTTCCAGAAGCTCTGCTCCTCCAGCGCCGAGATCCCCATTGGCATCTACCGGACAGAGAGCCACGTCTTCTCCACCTCGGAGGTTCTGGGGCAGCCTGGGGGCTGGGACTGTGGCAGCCCCTGTCCTGTGTGACCCACAGCATCCCCACCTTCCGGGGGCTGGGACTGTGGCAGCCCCTGTCCTGTGTGACCCACAGCATCCCCACCTTCAGTGTCAGGGACCTGGGCTAGATCAGCTTTGCTATTGCTGGCAGCTCCTTCCGTCTGGTCCGTGTGCCCACGTGTAGCGCTTCCAGCTGGAGCAGCCATGACCCCTACCGGGGGCAGAGAGGCTCAGGGGAGTCTTCAGGAAGAATACGGGCAGCCCCTGTGCTGCAGTCCACACAGCAGCAGGCACCGTGCCCACCAGCCCTAAGCATGTTCCGTGCAGACCCCAGGCTGAGGCGGCGTGGGGGGCAGGGGTGCGCCCACAGGTCCCAGACTGCGCCTGTTTCCTTTGCAGCCCCACGACCTCAGAGCCCAGGTAAGCAACCCCTCCGTGCCCACGCAGCTTCTGCGGAGCACCAGAACATCGCAGCTTCACATGGAGAAGCCTGCCAGGCCCCACCCACCCACCCACCCACAGGGCCCTGGGAAAGCCGAGGCAGGAGCGGGTCCCACGGATGTGTCGGCCCCAGCACGGCTCAGAGAAGGCTGTTGACACTCACTCCCTCCTGCACTGGTGGTGGGGAAGCTGAGGCCTGGGGGGAGTAGCCTGTGAGTTTGGACACCAGGTGCACCCCCGCCCCCTCCCAGGCCCCACCAAGGCAGGCAGCCCCCATGCCCATCTGGCCTGACCAGCCCCCAGCCTCCCAGGCCTTTCTGAAGGTGCCACCCAGGTGGGATGCCTACCTCTTCCCAGCACCCCACGACCCACAGGCTCTGGCACCCCACGTTCCCCAGGTTCGGGGCCTCCAAAGGGTGTGTTTGCAAGAGGGATCAGGGCTCATCTGCAGATGGAGAAATTGACACGCAGAGGGGGTGACCTCTCAGGGCAAGGCCAGGATGTGCTGGGGTCCAGATGGGTCCCAGGCCGGACCCACAGAAATAAGGGCTCAGAGAGGCGAAGGGAGCTGCCCTCAGCAGCCTGGCGAATCCCTTGACCAGGCCCGGGCAGGGTGGGTGGCCCGGCGATCTGTGCTCAGGAGGAAACCAGGCACATTCTTTCCAGAGGAGGAAGGCACATGCACCCTGGGGTCTGTCGTCGTCCTCTTCCCTAACACCCCCAGCTGCTCCCACGCAGGCCCCAAGCTGCAGAGCCCACACCTCTTCCTAAGCCCCTGCCCCAAAGCCCGCGACCCTCCCGGCAGCCTCACCCCTCCCCGCCCTGCCCTGCCCTGCCCTGCCCAGTCCCAGATCTCGGTGAACGTGGAGGACTGTGAGGACACACGGGAAGTGAAGGGGCCCTGGGGCTCCCGCGCTGGCACCGGAGGCAGCTCCCAGGGCCGCCACACGGGCGGCGGTGACCCCGCAGAGCACCCACTGCTACGGCGCAAGAGCCTGCAGTGGGCCCGGAGGCTGAGCCGCAAGGCGCCCAAGCAGGCAGGCCGGGCGGCGGCCGCGGAGTGGATCAGCCAGCAGCGCCTCAGCCTGTACCGGCGCTCTGAGCGCCAGGAGCTCTCCGAGCTGGTGAAGAACCGCATGAAGCACCTGGGGCTGCCCACCACCGGCTACGGTAAGGGC | CTCACCAGGAGCCTTCCTTCAGGCTGGCTCTGCCCATCCTGGGGCTGCACGGTGCCTGTCCTGCTCCCTCTGACCGGGGGTCTCGTGCTCAGGAAGGGCTCATCCGCTCCTGTGTGCTCCTGTCTTCACTGTCACTTGTGAATGGCACCCGCTCAGCCCCTGCTGAAGCCCTCCTGTCCAGAAAGCAGGAGGAAATCTCTGGAAGGTCCTGAAACGTCCAGCTTTTTCTTTCCTTCCACGTCTCTCTCTGGCCCTGTCGTGGTTCTTGTTTCCTGTTTAGCGTTGTTCTGAGTAAAGGAAAATTAAAATTGCAAGTTGTTCTGGAATTTCACGTTCGTCTCCGCGAAGTACGGCTGGAATTCTGGATGCAAATCACCACGATTGCAAACTCACACGCCCATCGCAGCTCATCGCACCTGGTTCTTGCCCCAAGAGCGGAAACGCCGCACGAAACTAATTCCACTGTTTCTCACGCCCCAGCCTTCCCACCGGCCACTGATGAGTAAGGGCGAACCCGGAGGAAAAGGGGCTTCTGCCTGCTTGTCCTGTCGCTGTCGTGTCTTTTACCTGTGAATCGAGTTCTGGTTCCGGGGGGAAGTGTGGCCTCCGTGGGCGCACACGCCTGCCTGTGCACACTTGCTTGGAGGCCGAGCTCCAGGGTTGGGGCCCTCCGCTGAAGAATGACCCGAGAGTTGGCCACGGCCGGGTCCGGAGCCCGTGGATGTACCGCCTCACGTGACAGAAGGGCCTCTGCAGATGGGATTAAGTCACGGGCCTCGAGATGGGAGATCCTCCTGGAGCATCCGGCAGGTTCACGCCGTCAGGGTCCTTCTAGGGAGAGGCCAGAGGTCCCCATCCGGTGGGAAGAAGCTGCACGGCCAGCTCAGAAGAGGGAAGAGGGAGCCACAAGCCAAGGCAGGTGGCCTCCAGGAGCTGGAAAAGGCAAGAGAAGGAGGCCCCCAGGCCTCCAGAGGGAGCGGGGCCCTGCCCAGGCCTGGATCCAGCCTGAGACACCTCAAACTCCCGACTCCAGAAACGGGAGAGAGGAGACAGGTGTCGTTTTAGCTGCTAAGTTTGCGGTCATTTGTTACGGGAGCCCCAGGAAACTCAGTGGGTCCATTGCAAGCCTGGAGCACAGGGACGGGGAGGCCAAGGACAGCAGGGAGCCCGATGCTTGCTCCTCCTCAGCCCAGACTCCACACGCCCTCCGGCACCACTTACAAAACACCGGGGGAGGAGAGGATTATCAGGAGGATTTGGAATTTCGGGATGGCAAGAGCAGGGCGCTTGACCAAGCGCAGTGCCCATGGCAGCCGCCGGGAGTCCACCTTCTCATCAGAGCCCCACATCACTCCTCCCGGGCTCTGGCCCTGAGTGTGTCTGGGAAGATAGAGCTGGTTCAGGCCTGCCGGTGTATGCACACATGCAGACACACACTGTGTACACGTGGACACACACACCATGCACAAATGTGCACACAGGTATCATGCACACATGTACGGTGCACACACAGTGCCCTCGACCCCGTGGCTGCCGTGCCACTGGAGGGACCTCGGCACCAGCCCATCTGAGGCCCCTCCTTTCCCACAGAGGGAGCGAGAGAATGGCTCCAACCTGGCCTTCATGTTCCGCCTGCCGTTCGCCGCCGGCCGCGTCTTCAGCATCAGCATGTTGGACACACTGCTCTACCAGGTCAGCGGGGAAGCGGCAGCAGGAGGGTGGCGCCTGGGTGGGACCCCCGTCATGCCCTCAGCTCTTCAGCCTGGTCCCTGTTCTGAATGATAGGACTCCCTCTGAATGACCTTCCCTGGATTCCAAGGAGACCTCTGGGCCCTGTCCTTGCCCCAGGGATTTCTGGGCCCTTTTTGACCTATGGGTGCCTGGCAAGGGAGTTTTCTTAGAAAAGGCCTCCCAGAACTCTGCCTGTGGGTCATGTGGTGCTTGGGGACCTGGTGGTTCTGTGTGTGTGTATGCATGAGGGGTGGCGAGCCCGTGGCCGGTGGGGTATGGACCTGTGTCCCACGCCCGTGCCCGCGTGCCTCACTGTGGCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGGCCAGTCCTTCGTGAAGGACTACATGATCACCATCACCCGGCTGCTGCTGGGCCTGGACACCACGCCGGGCTCGGGGTACCTCTGTGCCGTAAGTGCCCCTGGCTGCGCTGGGCTGGGGGCGTGCTGGGCTGTCCAAGTGGGTGGATGGGCACCTGCCCCTGATTCACGGTGGCCAGGAGGCTCTGGGTGCTGCCACCTGCCCCAGCCAACTCAGGGTTCCCACCCTGCAGATGAAAATCACCGAGGGCGACCTGTGGATCCGCACGTACGGCCGCCTCTTCCAGAAGCTCTGCTCCTCCAGCGCCGAGATCCCCATTGGCATCTACCGGACAGAGAGCCACGTCTTCTCCACCTCGGAGGTTCTGGGGCAGCCTGGGGGCTGGGACTGTGGCAGCCCCTGTCCTGTGTGACCCACAGCATCCCCACCTTCCGGGGGCTGGGACTGTGGCAGCCCCTGTCCTGTGTGACCCACAGCATCCCCACCTTCAGTGTCAGGGACCTGGGCTAGATCAGCTTTGCTATTGCTGGCAGCTCCTTCCGTCTGGTCCGTGTGCCCACGTGTAGCGCTTCCAGCTGGAGCAGCCATGACCCCTACCGGGGGCAGAGAGGCTCAGGGGAGTCTTCAGGAAGAATACGGGCAGCCCCTGTGCTGCAGTCCACACAGCAGCAGGCACCGTGCCCACCAGCCCTAAGCATGTTCCGTGCAGACCCCAGGCTGAGGCGGCGTGGGGGGCAGGGGTGCGCCCACAGGTCCCAGACTGCGCCTGTTTCCTTTGCAGCCCCACGACCTCAGAGCCCAGGTAAGCAACCCCTCCGTGCCCACGCAGCTTCTGCGGAGCACCAGAACATCGCAGCTTCACATGGAGAAGCCTGCCAGGCCCCACCCACCCACCCACCCACAGGGCCCTGGGAAAGCCGAGGCAGGAGCGGGTCCCACGGATGTGTCGGCCCCAGCACGGCTCAGAGAAGGCTGTTGACACTCACTCCCTCCTGCACTGGTGGTGGGGAAGCTGAGGCCTGGGGGGAGTAGCCTGTGAGTTTGGACACCAGGTGCACCCCCGCCCCCTCCCAGGCCCCACCAAGGCAGGCAGCCCCCATGCCCATCTGGCCTGACCAGCCCCCAGCCTCCCAGGCCTTTCTGAAGGTGCCACCCAGGTGGGATGCCTACCTCTTCCCAGCACCCCACGACCCACAGGCTCTGGCACCCCACGTTCCCCAGGTTCGGGGCCTCCAAAGGGTGTGTTTGCAAGAGGGATCAGGGCTCATCTGCAGATGGAGAAATTGACACGCAGAGGGGGTGACCTCTCAGGGCAAGGCCAGGATGTGCTGGGGTCCAGATGGGTCCCAGGCCGGACCCACAGAAATAAGGGCTCAGAGAGGCGAAGGGAGCTGCCCTCAGCAGCCTGGCGAATCCCTTGACCAGGCCCGGGCAGGGTGGGTGGCCCGGCGATCTGTGCTCAGGAGGAAACCAGGCACATTCTTTCCAGAGGAGGAAGGCACATGCACCCTGGGGTCTGTCGTCGTCCTCTTCCCTAACACCCCCAGCTGCTCCCACGCAGGCCCCAAGCTGCAGAGCCCACACCTCTTCCTAAGCCCCTGCCCCAAAGCCCGCGACCCTCCCGGCAGCCTCACCCCTCCCCGCCCTGCCCTGCCCTGCCCTGCCCAGTCCCAGATCTCGGTGAACGTGGAGGACTGTGAGGACACACGGGAAGTGAAGGGGCCCTGGGGCTCCCGCGCTGGCACCGGAGGCAGCTCCCAGGGCCGCCACACGGGCGGCGGTGACCCCGCAGAGCACCCACTGCTACGGCGCAAGAGCCTGCAGTGGGCCCGGAGGCTGAGCCGCAAGGCGCCCAAGCAGGCAGGCCGGGCGGCGGCCGCGGAGTGGATCAGCCAGCAGCGCCTCAGCCTGTACCGGCGCTCTGAGCGCCAGGAGCTCTCCGAGCTGGTGAAGAACCGCATGAAGCACCTGGGGCTGCCCACCACCGGCTACGGTAAGGGCNNNNNNNN | benign | 154,860 |
The genetic variant at chromosome 9, position 135784482, affecting gene KCNT1 (potassium sodium-activated channel subfamily T member 1): benign or pathogenic? Disease name(s) if pathogenic? | benign | CTCACCAGGAGCCTTCCTTCAGGCTGGCTCTGCCCATCCTGGGGCTGCACGGTGCCTGTCCTGCTCCCTCTGACCGGGGGTCTCGTGCTCAGGAAGGGCTCATCCGCTCCTGTGTGCTCCTGTCTTCACTGTCACTTGTGAATGGCACCCGCTCAGCCCCTGCTGAAGCCCTCCTGTCCAGAAAGCAGGAGGAAATCTCTGGAAGGTCCTGAAACGTCCAGCTTTTTCTTTCCTTCCACGTCTCTCTCTGGCCCTGTCGTGGTTCTTGTTTCCTGTTTAGCGTTGTTCTGAGTAAAGGAAAATTAAAATTGCAAGTTGTTCTGGAATTTCACGTTCGTCTCCGCGAAGTACGGCTGGAATTCTGGATGCAAATCACCACGATTGCAAACTCACACGCCCATCGCAGCTCATCGCACCTGGTTCTTGCCCCAAGAGCGGAAACGCCGCACGAAACTAATTCCACTGTTTCTCACGCCCCAGCCTTCCCACCGGCCACTGATGAGTAAGGGCGAACCCGGAGGAAAAGGGGCTTCTGCCTGCTTGTCCTGTCGCTGTCGTGTCTTTTACCTGTGAATCGAGTTCTGGTTCCGGGGGGAAGTGTGGCCTCCGTGGGCGCACACGCCTGCCTGTGCACACTTGCTTGGAGGCCGAGCTCCAGGGTTGGGGCCCTCCGCTGAAGAATGACCCGAGAGTTGGCCACGGCCGGGTCCGGAGCCCGTGGATGTACCGCCTCACGTGACAGAAGGGCCTCTGCAGATGGGATTAAGTCACGGGCCTCGAGATGGGAGATCCTCCTGGAGCATCCGGCAGGTTCACGCCGTCAGGGTCCTTCTAGGGAGAGGCCAGAGGTCCCCATCCGGTGGGAAGAAGCTGCACGGCCAGCTCAGAAGAGGGAAGAGGGAGCCACAAGCCAAGGCAGGTGGCCTCCAGGAGCTGGAAAAGGCAAGAGAAGGAGGCCCCCAGGCCTCCAGAGGGAGCGGGGCCCTGCCCAGGCCTGGATCCAGCCTGAGACACCTCAAACTCCCGACTCCAGAAACGGGAGAGAGGAGACAGGTGTCGTTTTAGCTGCTAAGTTTGCGGTCATTTGTTACGGGAGCCCCAGGAAACTCAGTGGGTCCATTGCAAGCCTGGAGCACAGGGACGGGGAGGCCAAGGACAGCAGGGAGCCCGATGCTTGCTCCTCCTCAGCCCAGACTCCACACGCCCTCCGGCACCACTTACAAAACACCGGGGGAGGAGAGGATTATCAGGAGGATTTGGAATTTCGGGATGGCAAGAGCAGGGCGCTTGACCAAGCGCAGTGCCCATGGCAGCCGCCGGGAGTCCACCTTCTCATCAGAGCCCCACATCACTCCTCCCGGGCTCTGGCCCTGAGTGTGTCTGGGAAGATAGAGCTGGTTCAGGCCTGCCGGTGTATGCACACATGCAGACACACACTGTGTACACGTGGACACACACACCATGCACAAATGTGCACACAGGTATCATGCACACATGTACGGTGCACACACAGTGCCCTCGACCCCGTGGCTGCCGTGCCACTGGAGGGACCTCGGCACCAGCCCATCTGAGGCCCCTCCTTTCCCACAGAGGGAGCGAGAGAATGGCTCCAACCTGGCCTTCATGTTCCGCCTGCCGTTCGCCGCCGGCCGCGTCTTCAGCATCAGCATGTTGGACACACTGCTCTACCAGGTCAGCGGGGAAGCGGCAGCAGGAGGGTGGCGCCTGGGTGGGACCCCCGTCATGCCCTCAGCTCTTCAGCCTGGTCCCTGTTCTGAATGATAGGACTCCCTCTGAATGACCTTCCCTGGATTCCAAGGAGACCTCTGGGCCCTGTCCTTGCCCCAGGGATTTCTGGGCCCTTTTTGACCTATGGGTGCCTGGCAAGGGAGTTTTCTTAGAAAAGGCCTCCCAGAACTCTGCCTGTGGGTCATGTGGTGCTTGGGGACCTGGTGGTTCTGTGTGTGTGTATGCATGAGGGGTGGCGAGCCCGTGGCCGGTGGGGTATGGACCTGTGTCCCACGCCCGTGCCCGCGTGCCTCACTGTGGCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGGCCAGTCCTTCGTGAAGGACTACATGATCACCATCACCCGGCTGCTGCTGGGCCTGGACACCACGCCGGGCTCGGGGTACCTCTGTGCCGTAAGTGCCCCTGGCTGCGCTGGGCTGGGGGCGTGCTGGGCTGTCCAAGTGGGTGGATGGGCACCTGCCCCTGATTCACGGTGGCCAGGAGGCTCTGGGTGCTGCCACCTGCCCCAGCCAACTCAGGGTTCCCACCCTGCAGATGAAAATCACCGAGGGCGACCTGTGGATCCGCACGTACGGCCGCCTCTTCCAGAAGCTCTGCTCCTCCAGCGCCGAGATCCCCATTGGCATCTACCGGACAGAGAGCCACGTCTTCTCCACCTCGGAGGTTCTGGGGCAGCCTGGGGGCTGGGACTGTGGCAGCCCCTGTCCTGTGTGACCCACAGCATCCCCACCTTCCGGGGGCTGGGACTGTGGCAGCCCCTGTCCTGTGTGACCCACAGCATCCCCACCTTCAGTGTCAGGGACCTGGGCTAGATCAGCTTTGCTATTGCTGGCAGCTCCTTCCGTCTGGTCCGTGTGCCCACGTGTAGCGCTTCCAGCTGGAGCAGCCATGACCCCTACCGGGGGCAGAGAGGCTCAGGGGAGTCTTCAGGAAGAATACGGGCAGCCCCTGTGCTGCAGTCCACACAGCAGCAGGCACCGTGCCCACCAGCCCTAAGCATGTTCCGTGCAGACCCCAGGCTGAGGCGGCGTGGGGGGCAGGGGTGCGCCCACAGGTCCCAGACTGCGCCTGTTTCCTTTGCAGCCCCACGACCTCAGAGCCCAGGTAAGCAACCCCTCCGTGCCCACGCAGCTTCTGCGGAGCACCAGAACATCGCAGCTTCACATGGAGAAGCCTGCCAGGCCCCACCCACCCACCCACCCACAGGGCCCTGGGAAAGCCGAGGCAGGAGCGGGTCCCACGGATGTGTCGGCCCCAGCACGGCTCAGAGAAGGCTGTTGACACTCACTCCCTCCTGCACTGGTGGTGGGGAAGCTGAGGCCTGGGGGGAGTAGCCTGTGAGTTTGGACACCAGGTGCACCCCCGCCCCCTCCCAGGCCCCACCAAGGCAGGCAGCCCCCATGCCCATCTGGCCTGACCAGCCCCCAGCCTCCCAGGCCTTTCTGAAGGTGCCACCCAGGTGGGATGCCTACCTCTTCCCAGCACCCCACGACCCACAGGCTCTGGCACCCCACGTTCCCCAGGTTCGGGGCCTCCAAAGGGTGTGTTTGCAAGAGGGATCAGGGCTCATCTGCAGATGGAGAAATTGACACGCAGAGGGGGTGACCTCTCAGGGCAAGGCCAGGATGTGCTGGGGTCCAGATGGGTCCCAGGCCGGACCCACAGAAATAAGGGCTCAGAGAGGCGAAGGGAGCTGCCCTCAGCAGCCTGGCGAATCCCTTGACCAGGCCCGGGCAGGGTGGGTGGCCCGGCGATCTGTGCTCAGGAGGAAACCAGGCACATTCTTTCCAGAGGAGGAAGGCACATGCACCCTGGGGTCTGTCGTCGTCCTCTTCCCTAACACCCCCAGCTGCTCCCACGCAGGCCCCAAGCTGCAGAGCCCACACCTCTTCCTAAGCCCCTGCCCCAAAGCCCGCGACCCTCCCGGCAGCCTCACCCCTCCCCGCCCTGCCCTGCCCTGCCCTGCCCAGTCCCAGATCTCGGTGAACGTGGAGGACTGTGAGGACACACGGGAAGTGAAGGGGCCCTGGGGCTCCCGCGCTGGCACCGGAGGCAGCTCCCAGGGCCGCCACACGGGCGGCGGTGACCCCGCAGAGCACCCACTGCTACGGCGCAAGAGCCTGCAGTGGGCCCGGAGGCTGAGCCGCAAGGCGCCCAAGCAGGCAGGCCGGGCGGCGGCCGCGGAGTGGATCAGCCAGCAGCGCCTCAGCCTGTACCGGCGCTCTGAGCGCCAGGAGCTCTCCGAGCTGGTGAAGAACCGCATGAAGCACCTGGGGCTGCCCACCACCGGCTACGGTAAGGGC 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CTCACCAGGAGCCTTCCTTCAGGCTGGCTCTGCCCATCCTGGGGCTGCACGGTGCCTGTCCTGCTCCCTCTGACCGGGGGTCTCGTGCTCAGGAAGGGCTCATCCGCTCCTGTGTGCTCCTGTCTTCACTGTCACTTGTGAATGGCACCCGCTCAGCCCCTGCTGAAGCCCTCCTGTCCAGAAAGCAGGAGGAAATCTCTGGAAGGTCCTGAAACGTCCAGCTTTTTCTTTCCTTCCACGTCTCTCTCTGGCCCTGTCGTGGTTCTTGTTTCCTGTTTAGCGTTGTTCTGAGTAAAGGAAAATTAAAATTGCAAGTTGTTCTGGAATTTCACGTTCGTCTCCGCGAAGTACGGCTGGAATTCTGGATGCAAATCACCACGATTGCAAACTCACACGCCCATCGCAGCTCATCGCACCTGGTTCTTGCCCCAAGAGCGGAAACGCCGCACGAAACTAATTCCACTGTTTCTCACGCCCCAGCCTTCCCACCGGCCACTGATGAGTAAGGGCGAACCCGGAGGAAAAGGGGCTTCTGCCTGCTTGTCCTGTCGCTGTCGTGTCTTTTACCTGTGAATCGAGTTCTGGTTCCGGGGGGAAGTGTGGCCTCCGTGGGCGCACACGCCTGCCTGTGCACACTTGCTTGGAGGCCGAGCTCCAGGGTTGGGGCCCTCCGCTGAAGAATGACCCGAGAGTTGGCCACGGCCGGGTCCGGAGCCCGTGGATGTACCGCCTCACGTGACAGAAGGGCCTCTGCAGATGGGATTAAGTCACGGGCCTCGAGATGGGAGATCCTCCTGGAGCATCCGGCAGGTTCACGCCGTCAGGGTCCTTCTAGGGAGAGGCCAGAGGTCCCCATCCGGTGGGAAGAAGCTGCACGGCCAGCTCAGAAGAGGGAAGAGGGAGCCACAAGCCAAGGCAGGTGGCCTCCAGGAGCTGGAAAAGGCAAGAGAAGGAGGCCCCCAGGCCTCCAGAGGGAGCGGGGCCCTGCCCAGGCCTGGATCCAGCCTGAGACACCTCAAACTCCCGACTCCAGAAACGGGAGAGAGGAGACAGGTGTCGTTTTAGCTGCTAAGTTTGCGGTCATTTGTTACGGGAGCCCCAGGAAACTCAGTGGGTCCATTGCAAGCCTGGAGCACAGGGACGGGGAGGCCAAGGACAGCAGGGAGCCCGATGCTTGCTCCTCCTCAGCCCAGACTCCACACGCCCTCCGGCACCACTTACAAAACACCGGGGGAGGAGAGGATTATCAGGAGGATTTGGAATTTCGGGATGGCAAGAGCAGGGCGCTTGACCAAGCGCAGTGCCCATGGCAGCCGCCGGGAGTCCACCTTCTCATCAGAGCCCCACATCACTCCTCCCGGGCTCTGGCCCTGAGTGTGTCTGGGAAGATAGAGCTGGTTCAGGCCTGCCGGTGTATGCACACATGCAGACACACACTGTGTACACGTGGACACACACACCATGCACAAATGTGCACACAGGTATCATGCACACATGTACGGTGCACACACAGTGCCCTCGACCCCGTGGCTGCCGTGCCACTGGAGGGACCTCGGCACCAGCCCATCTGAGGCCCCTCCTTTCCCACAGAGGGAGCGAGAGAATGGCTCCAACCTGGCCTTCATGTTCCGCCTGCCGTTCGCCGCCGGCCGCGTCTTCAGCATCAGCATGTTGGACACACTGCTCTACCAGGTCAGCGGGGAAGCGGCAGCAGGAGGGTGGCGCCTGGGTGGGACCCCCGTCATGCCCTCAGCTCTTCAGCCTGGTCCCTGTTCTGAATGATAGGACTCCCTCTGAATGACCTTCCCTGGATTCCAAGGAGACCTCTGGGCCCTGTCCTTGCCCCAGGGATTTCTGGGCCCTTTTTGACCTATGGGTGCCTGGCAAGGGAGTTTTCTTAGAAAAGGCCTCCCAGAACTCTGCCTGTGGGTCATGTGGTGCTTGGGGACCTGGTGGTTCTGTGTGTGTGTATGCATGAGGGGTGGCGAGCCCGTGGCCGGTGGGGTATGGACCTGTGTCCCACGCCCGTGCCCGCGTGCCTCACTGTGGCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGGCCAGTCCTTCGTGAAGGACTACATGATCACCATCACCCGGCTGCTGCTGGGCCTGGACACCACGCCGGGCTCGGGGTACCTCTGTGCCGTAAGTGCCCCTGGCTGCGCTGGGCTGGGGGCGTGCTGGGCTGTCCAAGTGGGTGGATGGGCACCTGCCCCTGATTCACGGTGGCCAGGAGGCTCTGGGTGCTGCCACCTGCCCCAGCCAACTCAGGGTTCCCACCCTGCAGATGAAAATCACCGAGGGCGACCTGTGGATCCGCACGTACGGCCGCCTCTTCCAGAAGCTCTGCTCCTCCAGCGCCGAGATCCCCATTGGCATCTACCGGACAGAGAGCCACGTCTTCTCCACCTCGGAGGTTCTGGGGCAGCCTGGGGGCTGGGACTGTGGCAGCCCCTGTCCTGTGTGACCCACAGCATCCCCACCTTCCGGGGGCTGGGACTGTGGCAGCCCCTGTCCTGTGTGACCCACAGCATCCCCACCTTCAGTGTCAGGGACCTGGGCTAGATCAGCTTTGCTATTGCTGGCAGCTCCTTCCGTCTGGTCCGTGTGCCCACGTGTAGCGCTTCCAGCTGGAGCAGCCATGACCCCTACCGGGGGCAGAGAGGCTCAGGGGAGTCTTCAGGAAGAATACGGGCAGCCCCTGTGCTGCAGTCCACACAGCAGCAGGCACCGTGCCCACCAGCCCTAAGCATGTTCCGTGCAGACCCCAGGCTGAGGCGGCGTGGGGGGCAGGGGTGCGCCCACAGGTCCCAGACTGCGCCTGTTTCCTTTGCAGCCCCACGACCTCAGAGCCCAGGTAAGCAACCCCTCCGTGCCCACGCAGCTTCTGCGGAGCACCAGAACATCGCAGCTTCACATGGAGAAGCCTGCCAGGCCCCACCCACCCACCCACCCACAGGGCCCTGGGAAAGCCGAGGCAGGAGCGGGTCCCACGGATGTGTCGGCCCCAGCACGGCTCAGAGAAGGCTGTTGACACTCACTCCCTCCTGCACTGGTGGTGGGGAAGCTGAGGCCTGGGGGGAGTAGCCTGTGAGTTTGGACACCAGGTGCACCCCCGCCCCCTCCCAGGCCCCACCAAGGCAGGCAGCCCCCATGCCCATCTGGCCTGACCAGCCCCCAGCCTCCCAGGCCTTTCTGAAGGTGCCACCCAGGTGGGATGCCTACCTCTTCCCAGCACCCCACGACCCACAGGCTCTGGCACCCCACGTTCCCCAGGTTCGGGGCCTCCAAAGGGTGTGTTTGCAAGAGGGATCAGGGCTCATCTGCAGATGGAGAAATTGACACGCAGAGGGGGTGACCTCTCAGGGCAAGGCCAGGATGTGCTGGGGTCCAGATGGGTCCCAGGCCGGACCCACAGAAATAAGGGCTCAGAGAGGCGAAGGGAGCTGCCCTCAGCAGCCTGGCGAATCCCTTGACCAGGCCCGGGCAGGGTGGGTGGCCCGGCGATCTGTGCTCAGGAGGAAACCAGGCACATTCTTTCCAGAGGAGGAAGGCACATGCACCCTGGGGTCTGTCGTCGTCCTCTTCCCTAACACCCCCAGCTGCTCCCACGCAGGCCCCAAGCTGCAGAGCCCACACCTCTTCCTAAGCCCCTGCCCCAAAGCCCGCGACCCTCCCGGCAGCCTCACCCCTCCCCGCCCTGCCCTGCCCTGCCCTGCCCAGTCCCAGATCTCGGTGAACGTGGAGGACTGTGAGGACACACGGGAAGTGAAGGGGCCCTGGGGCTCCCGCGCTGGCACCGGAGGCAGCTCCCAGGGCCGCCACACGGGCGGCGGTGACCCCGCAGAGCACCCACTGCTACGGCGCAAGAGCCTGCAGTGGGCCCGGAGGCTGAGCCGCAAGGCGCCCAAGCAGGCAGGCCGGGCGGCGGCCGCGGAGTGGATCAGCCAGCAGCGCCTCAGCCTGTACCGGCGCTCTGAGCGCCAGGAGCTCTCCGAGCTGGTGAAGAACCGCATGAAGCACCTGGGGCTGCCCACCACCGGCTACGGTAAGGGCNNNNNNNNNNNN | benign | 154,861 |
Variant in KCNT1 (potassium sodium-activated channel subfamily T member 1), chromosome 9, position 135784482—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | CTCACCAGGAGCCTTCCTTCAGGCTGGCTCTGCCCATCCTGGGGCTGCACGGTGCCTGTCCTGCTCCCTCTGACCGGGGGTCTCGTGCTCAGGAAGGGCTCATCCGCTCCTGTGTGCTCCTGTCTTCACTGTCACTTGTGAATGGCACCCGCTCAGCCCCTGCTGAAGCCCTCCTGTCCAGAAAGCAGGAGGAAATCTCTGGAAGGTCCTGAAACGTCCAGCTTTTTCTTTCCTTCCACGTCTCTCTCTGGCCCTGTCGTGGTTCTTGTTTCCTGTTTAGCGTTGTTCTGAGTAAAGGAAAATTAAAATTGCAAGTTGTTCTGGAATTTCACGTTCGTCTCCGCGAAGTACGGCTGGAATTCTGGATGCAAATCACCACGATTGCAAACTCACACGCCCATCGCAGCTCATCGCACCTGGTTCTTGCCCCAAGAGCGGAAACGCCGCACGAAACTAATTCCACTGTTTCTCACGCCCCAGCCTTCCCACCGGCCACTGATGAGTAAGGGCGAACCCGGAGGAAAAGGGGCTTCTGCCTGCTTGTCCTGTCGCTGTCGTGTCTTTTACCTGTGAATCGAGTTCTGGTTCCGGGGGGAAGTGTGGCCTCCGTGGGCGCACACGCCTGCCTGTGCACACTTGCTTGGAGGCCGAGCTCCAGGGTTGGGGCCCTCCGCTGAAGAATGACCCGAGAGTTGGCCACGGCCGGGTCCGGAGCCCGTGGATGTACCGCCTCACGTGACAGAAGGGCCTCTGCAGATGGGATTAAGTCACGGGCCTCGAGATGGGAGATCCTCCTGGAGCATCCGGCAGGTTCACGCCGTCAGGGTCCTTCTAGGGAGAGGCCAGAGGTCCCCATCCGGTGGGAAGAAGCTGCACGGCCAGCTCAGAAGAGGGAAGAGGGAGCCACAAGCCAAGGCAGGTGGCCTCCAGGAGCTGGAAAAGGCAAGAGAAGGAGGCCCCCAGGCCTCCAGAGGGAGCGGGGCCCTGCCCAGGCCTGGATCCAGCCTGAGACACCTCAAACTCCCGACTCCAGAAACGGGAGAGAGGAGACAGGTGTCGTTTTAGCTGCTAAGTTTGCGGTCATTTGTTACGGGAGCCCCAGGAAACTCAGTGGGTCCATTGCAAGCCTGGAGCACAGGGACGGGGAGGCCAAGGACAGCAGGGAGCCCGATGCTTGCTCCTCCTCAGCCCAGACTCCACACGCCCTCCGGCACCACTTACAAAACACCGGGGGAGGAGAGGATTATCAGGAGGATTTGGAATTTCGGGATGGCAAGAGCAGGGCGCTTGACCAAGCGCAGTGCCCATGGCAGCCGCCGGGAGTCCACCTTCTCATCAGAGCCCCACATCACTCCTCCCGGGCTCTGGCCCTGAGTGTGTCTGGGAAGATAGAGCTGGTTCAGGCCTGCCGGTGTATGCACACATGCAGACACACACTGTGTACACGTGGACACACACACCATGCACAAATGTGCACACAGGTATCATGCACACATGTACGGTGCACACACAGTGCCCTCGACCCCGTGGCTGCCGTGCCACTGGAGGGACCTCGGCACCAGCCCATCTGAGGCCCCTCCTTTCCCACAGAGGGAGCGAGAGAATGGCTCCAACCTGGCCTTCATGTTCCGCCTGCCGTTCGCCGCCGGCCGCGTCTTCAGCATCAGCATGTTGGACACACTGCTCTACCAGGTCAGCGGGGAAGCGGCAGCAGGAGGGTGGCGCCTGGGTGGGACCCCCGTCATGCCCTCAGCTCTTCAGCCTGGTCCCTGTTCTGAATGATAGGACTCCCTCTGAATGACCTTCCCTGGATTCCAAGGAGACCTCTGGGCCCTGTCCTTGCCCCAGGGATTTCTGGGCCCTTTTTGACCTATGGGTGCCTGGCAAGGGAGTTTTCTTAGAAAAGGCCTCCCAGAACTCTGCCTGTGGGTCATGTGGTGCTTGGGGACCTGGTGGTTCTGTGTGTGTGTATGCATGAGGGGTGGCGAGCCCGTGGCCGGTGGGGTATGGACCTGTGTCCCACGCCCGTGCCCGCGTGCCTCACTGTGGCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGGCCAGTCCTTCGTGAAGGACTACATGATCACCATCACCCGGCTGCTGCTGGGCCTGGACACCACGCCGGGCTCGGGGTACCTCTGTGCCGTAAGTGCCCCTGGCTGCGCTGGGCTGGGGGCGTGCTGGGCTGTCCAAGTGGGTGGATGGGCACCTGCCCCTGATTCACGGTGGCCAGGAGGCTCTGGGTGCTGCCACCTGCCCCAGCCAACTCAGGGTTCCCACCCTGCAGATGAAAATCACCGAGGGCGACCTGTGGATCCGCACGTACGGCCGCCTCTTCCAGAAGCTCTGCTCCTCCAGCGCCGAGATCCCCATTGGCATCTACCGGACAGAGAGCCACGTCTTCTCCACCTCGGAGGTTCTGGGGCAGCCTGGGGGCTGGGACTGTGGCAGCCCCTGTCCTGTGTGACCCACAGCATCCCCACCTTCCGGGGGCTGGGACTGTGGCAGCCCCTGTCCTGTGTGACCCACAGCATCCCCACCTTCAGTGTCAGGGACCTGGGCTAGATCAGCTTTGCTATTGCTGGCAGCTCCTTCCGTCTGGTCCGTGTGCCCACGTGTAGCGCTTCCAGCTGGAGCAGCCATGACCCCTACCGGGGGCAGAGAGGCTCAGGGGAGTCTTCAGGAAGAATACGGGCAGCCCCTGTGCTGCAGTCCACACAGCAGCAGGCACCGTGCCCACCAGCCCTAAGCATGTTCCGTGCAGACCCCAGGCTGAGGCGGCGTGGGGGGCAGGGGTGCGCCCACAGGTCCCAGACTGCGCCTGTTTCCTTTGCAGCCCCACGACCTCAGAGCCCAGGTAAGCAACCCCTCCGTGCCCACGCAGCTTCTGCGGAGCACCAGAACATCGCAGCTTCACATGGAGAAGCCTGCCAGGCCCCACCCACCCACCCACCCACAGGGCCCTGGGAAAGCCGAGGCAGGAGCGGGTCCCACGGATGTGTCGGCCCCAGCACGGCTCAGAGAAGGCTGTTGACACTCACTCCCTCCTGCACTGGTGGTGGGGAAGCTGAGGCCTGGGGGGAGTAGCCTGTGAGTTTGGACACCAGGTGCACCCCCGCCCCCTCCCAGGCCCCACCAAGGCAGGCAGCCCCCATGCCCATCTGGCCTGACCAGCCCCCAGCCTCCCAGGCCTTTCTGAAGGTGCCACCCAGGTGGGATGCCTACCTCTTCCCAGCACCCCACGACCCACAGGCTCTGGCACCCCACGTTCCCCAGGTTCGGGGCCTCCAAAGGGTGTGTTTGCAAGAGGGATCAGGGCTCATCTGCAGATGGAGAAATTGACACGCAGAGGGGGTGACCTCTCAGGGCAAGGCCAGGATGTGCTGGGGTCCAGATGGGTCCCAGGCCGGACCCACAGAAATAAGGGCTCAGAGAGGCGAAGGGAGCTGCCCTCAGCAGCCTGGCGAATCCCTTGACCAGGCCCGGGCAGGGTGGGTGGCCCGGCGATCTGTGCTCAGGAGGAAACCAGGCACATTCTTTCCAGAGGAGGAAGGCACATGCACCCTGGGGTCTGTCGTCGTCCTCTTCCCTAACACCCCCAGCTGCTCCCACGCAGGCCCCAAGCTGCAGAGCCCACACCTCTTCCTAAGCCCCTGCCCCAAAGCCCGCGACCCTCCCGGCAGCCTCACCCCTCCCCGCCCTGCCCTGCCCTGCCCTGCCCAGTCCCAGATCTCGGTGAACGTGGAGGACTGTGAGGACACACGGGAAGTGAAGGGGCCCTGGGGCTCCCGCGCTGGCACCGGAGGCAGCTCCCAGGGCCGCCACACGGGCGGCGGTGACCCCGCAGAGCACCCACTGCTACGGCGCAAGAGCCTGCAGTGGGCCCGGAGGCTGAGCCGCAAGGCGCCCAAGCAGGCAGGCCGGGCGGCGGCCGCGGAGTGGATCAGCCAGCAGCGCCTCAGCCTGTACCGGCGCTCTGAGCGCCAGGAGCTCTCCGAGCTGGTGAAGAACCGCATGAAGCACCTGGGGCTGCCCACCACCGGCTACGGTAAGGGC 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CTCACCAGGAGCCTTCCTTCAGGCTGGCTCTGCCCATCCTGGGGCTGCACGGTGCCTGTCCTGCTCCCTCTGACCGGGGGTCTCGTGCTCAGGAAGGGCTCATCCGCTCCTGTGTGCTCCTGTCTTCACTGTCACTTGTGAATGGCACCCGCTCAGCCCCTGCTGAAGCCCTCCTGTCCAGAAAGCAGGAGGAAATCTCTGGAAGGTCCTGAAACGTCCAGCTTTTTCTTTCCTTCCACGTCTCTCTCTGGCCCTGTCGTGGTTCTTGTTTCCTGTTTAGCGTTGTTCTGAGTAAAGGAAAATTAAAATTGCAAGTTGTTCTGGAATTTCACGTTCGTCTCCGCGAAGTACGGCTGGAATTCTGGATGCAAATCACCACGATTGCAAACTCACACGCCCATCGCAGCTCATCGCACCTGGTTCTTGCCCCAAGAGCGGAAACGCCGCACGAAACTAATTCCACTGTTTCTCACGCCCCAGCCTTCCCACCGGCCACTGATGAGTAAGGGCGAACCCGGAGGAAAAGGGGCTTCTGCCTGCTTGTCCTGTCGCTGTCGTGTCTTTTACCTGTGAATCGAGTTCTGGTTCCGGGGGGAAGTGTGGCCTCCGTGGGCGCACACGCCTGCCTGTGCACACTTGCTTGGAGGCCGAGCTCCAGGGTTGGGGCCCTCCGCTGAAGAATGACCCGAGAGTTGGCCACGGCCGGGTCCGGAGCCCGTGGATGTACCGCCTCACGTGACAGAAGGGCCTCTGCAGATGGGATTAAGTCACGGGCCTCGAGATGGGAGATCCTCCTGGAGCATCCGGCAGGTTCACGCCGTCAGGGTCCTTCTAGGGAGAGGCCAGAGGTCCCCATCCGGTGGGAAGAAGCTGCACGGCCAGCTCAGAAGAGGGAAGAGGGAGCCACAAGCCAAGGCAGGTGGCCTCCAGGAGCTGGAAAAGGCAAGAGAAGGAGGCCCCCAGGCCTCCAGAGGGAGCGGGGCCCTGCCCAGGCCTGGATCCAGCCTGAGACACCTCAAACTCCCGACTCCAGAAACGGGAGAGAGGAGACAGGTGTCGTTTTAGCTGCTAAGTTTGCGGTCATTTGTTACGGGAGCCCCAGGAAACTCAGTGGGTCCATTGCAAGCCTGGAGCACAGGGACGGGGAGGCCAAGGACAGCAGGGAGCCCGATGCTTGCTCCTCCTCAGCCCAGACTCCACACGCCCTCCGGCACCACTTACAAAACACCGGGGGAGGAGAGGATTATCAGGAGGATTTGGAATTTCGGGATGGCAAGAGCAGGGCGCTTGACCAAGCGCAGTGCCCATGGCAGCCGCCGGGAGTCCACCTTCTCATCAGAGCCCCACATCACTCCTCCCGGGCTCTGGCCCTGAGTGTGTCTGGGAAGATAGAGCTGGTTCAGGCCTGCCGGTGTATGCACACATGCAGACACACACTGTGTACACGTGGACACACACACCATGCACAAATGTGCACACAGGTATCATGCACACATGTACGGTGCACACACAGTGCCCTCGACCCCGTGGCTGCCGTGCCACTGGAGGGACCTCGGCACCAGCCCATCTGAGGCCCCTCCTTTCCCACAGAGGGAGCGAGAGAATGGCTCCAACCTGGCCTTCATGTTCCGCCTGCCGTTCGCCGCCGGCCGCGTCTTCAGCATCAGCATGTTGGACACACTGCTCTACCAGGTCAGCGGGGAAGCGGCAGCAGGAGGGTGGCGCCTGGGTGGGACCCCCGTCATGCCCTCAGCTCTTCAGCCTGGTCCCTGTTCTGAATGATAGGACTCCCTCTGAATGACCTTCCCTGGATTCCAAGGAGACCTCTGGGCCCTGTCCTTGCCCCAGGGATTTCTGGGCCCTTTTTGACCTATGGGTGCCTGGCAAGGGAGTTTTCTTAGAAAAGGCCTCCCAGAACTCTGCCTGTGGGTCATGTGGTGCTTGGGGACCTGGTGGTTCTGTGTGTGTGTATGCATGAGGGGTGGCGAGCCCGTGGCCGGTGGGGTATGGACCTGTGTCCCACGCCCGTGCCCGCGTGCCTCACTGTGGCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGGCCAGTCCTTCGTGAAGGACTACATGATCACCATCACCCGGCTGCTGCTGGGCCTGGACACCACGCCGGGCTCGGGGTACCTCTGTGCCGTAAGTGCCCCTGGCTGCGCTGGGCTGGGGGCGTGCTGGGCTGTCCAAGTGGGTGGATGGGCACCTGCCCCTGATTCACGGTGGCCAGGAGGCTCTGGGTGCTGCCACCTGCCCCAGCCAACTCAGGGTTCCCACCCTGCAGATGAAAATCACCGAGGGCGACCTGTGGATCCGCACGTACGGCCGCCTCTTCCAGAAGCTCTGCTCCTCCAGCGCCGAGATCCCCATTGGCATCTACCGGACAGAGAGCCACGTCTTCTCCACCTCGGAGGTTCTGGGGCAGCCTGGGGGCTGGGACTGTGGCAGCCCCTGTCCTGTGTGACCCACAGCATCCCCACCTTCCGGGGGCTGGGACTGTGGCAGCCCCTGTCCTGTGTGACCCACAGCATCCCCACCTTCAGTGTCAGGGACCTGGGCTAGATCAGCTTTGCTATTGCTGGCAGCTCCTTCCGTCTGGTCCGTGTGCCCACGTGTAGCGCTTCCAGCTGGAGCAGCCATGACCCCTACCGGGGGCAGAGAGGCTCAGGGGAGTCTTCAGGAAGAATACGGGCAGCCCCTGTGCTGCAGTCCACACAGCAGCAGGCACCGTGCCCACCAGCCCTAAGCATGTTCCGTGCAGACCCCAGGCTGAGGCGGCGTGGGGGGCAGGGGTGCGCCCACAGGTCCCAGACTGCGCCTGTTTCCTTTGCAGCCCCACGACCTCAGAGCCCAGGTAAGCAACCCCTCCGTGCCCACGCAGCTTCTGCGGAGCACCAGAACATCGCAGCTTCACATGGAGAAGCCTGCCAGGCCCCACCCACCCACCCACCCACAGGGCCCTGGGAAAGCCGAGGCAGGAGCGGGTCCCACGGATGTGTCGGCCCCAGCACGGCTCAGAGAAGGCTGTTGACACTCACTCCCTCCTGCACTGGTGGTGGGGAAGCTGAGGCCTGGGGGGAGTAGCCTGTGAGTTTGGACACCAGGTGCACCCCCGCCCCCTCCCAGGCCCCACCAAGGCAGGCAGCCCCCATGCCCATCTGGCCTGACCAGCCCCCAGCCTCCCAGGCCTTTCTGAAGGTGCCACCCAGGTGGGATGCCTACCTCTTCCCAGCACCCCACGACCCACAGGCTCTGGCACCCCACGTTCCCCAGGTTCGGGGCCTCCAAAGGGTGTGTTTGCAAGAGGGATCAGGGCTCATCTGCAGATGGAGAAATTGACACGCAGAGGGGGTGACCTCTCAGGGCAAGGCCAGGATGTGCTGGGGTCCAGATGGGTCCCAGGCCGGACCCACAGAAATAAGGGCTCAGAGAGGCGAAGGGAGCTGCCCTCAGCAGCCTGGCGAATCCCTTGACCAGGCCCGGGCAGGGTGGGTGGCCCGGCGATCTGTGCTCAGGAGGAAACCAGGCACATTCTTTCCAGAGGAGGAAGGCACATGCACCCTGGGGTCTGTCGTCGTCCTCTTCCCTAACACCCCCAGCTGCTCCCACGCAGGCCCCAAGCTGCAGAGCCCACACCTCTTCCTAAGCCCCTGCCCCAAAGCCCGCGACCCTCCCGGCAGCCTCACCCCTCCCCGCCCTGCCCTGCCCTGCCCTGCCCAGTCCCAGATCTCGGTGAACGTGGAGGACTGTGAGGACACACGGGAAGTGAAGGGGCCCTGGGGCTCCCGCGCTGGCACCGGAGGCAGCTCCCAGGGCCGCCACACGGGCGGCGGTGACCCCGCAGAGCACCCACTGCTACGGCGCAAGAGCCTGCAGTGGGCCCGGAGGCTGAGCCGCAAGGCGCCCAAGCAGGCAGGCCGGGCGGCGGCCGCGGAGTGGATCAGCCAGCAGCGCCTCAGCCTGTACCGGCGCTCTGAGCGCCAGGAGCTCTCCGAGCTGGTGAAGAACCGCATGAAGCACCTGGGGCTGCCCACCACCGGCTACGGTAAGGGCNNNNNNNNNNNNNNNN | benign | 154,862 |
The mutation impacting KCNT1 (potassium sodium-activated channel subfamily T member 1) on chromosome 9 at position 135784482: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | CTCACCAGGAGCCTTCCTTCAGGCTGGCTCTGCCCATCCTGGGGCTGCACGGTGCCTGTCCTGCTCCCTCTGACCGGGGGTCTCGTGCTCAGGAAGGGCTCATCCGCTCCTGTGTGCTCCTGTCTTCACTGTCACTTGTGAATGGCACCCGCTCAGCCCCTGCTGAAGCCCTCCTGTCCAGAAAGCAGGAGGAAATCTCTGGAAGGTCCTGAAACGTCCAGCTTTTTCTTTCCTTCCACGTCTCTCTCTGGCCCTGTCGTGGTTCTTGTTTCCTGTTTAGCGTTGTTCTGAGTAAAGGAAAATTAAAATTGCAAGTTGTTCTGGAATTTCACGTTCGTCTCCGCGAAGTACGGCTGGAATTCTGGATGCAAATCACCACGATTGCAAACTCACACGCCCATCGCAGCTCATCGCACCTGGTTCTTGCCCCAAGAGCGGAAACGCCGCACGAAACTAATTCCACTGTTTCTCACGCCCCAGCCTTCCCACCGGCCACTGATGAGTAAGGGCGAACCCGGAGGAAAAGGGGCTTCTGCCTGCTTGTCCTGTCGCTGTCGTGTCTTTTACCTGTGAATCGAGTTCTGGTTCCGGGGGGAAGTGTGGCCTCCGTGGGCGCACACGCCTGCCTGTGCACACTTGCTTGGAGGCCGAGCTCCAGGGTTGGGGCCCTCCGCTGAAGAATGACCCGAGAGTTGGCCACGGCCGGGTCCGGAGCCCGTGGATGTACCGCCTCACGTGACAGAAGGGCCTCTGCAGATGGGATTAAGTCACGGGCCTCGAGATGGGAGATCCTCCTGGAGCATCCGGCAGGTTCACGCCGTCAGGGTCCTTCTAGGGAGAGGCCAGAGGTCCCCATCCGGTGGGAAGAAGCTGCACGGCCAGCTCAGAAGAGGGAAGAGGGAGCCACAAGCCAAGGCAGGTGGCCTCCAGGAGCTGGAAAAGGCAAGAGAAGGAGGCCCCCAGGCCTCCAGAGGGAGCGGGGCCCTGCCCAGGCCTGGATCCAGCCTGAGACACCTCAAACTCCCGACTCCAGAAACGGGAGAGAGGAGACAGGTGTCGTTTTAGCTGCTAAGTTTGCGGTCATTTGTTACGGGAGCCCCAGGAAACTCAGTGGGTCCATTGCAAGCCTGGAGCACAGGGACGGGGAGGCCAAGGACAGCAGGGAGCCCGATGCTTGCTCCTCCTCAGCCCAGACTCCACACGCCCTCCGGCACCACTTACAAAACACCGGGGGAGGAGAGGATTATCAGGAGGATTTGGAATTTCGGGATGGCAAGAGCAGGGCGCTTGACCAAGCGCAGTGCCCATGGCAGCCGCCGGGAGTCCACCTTCTCATCAGAGCCCCACATCACTCCTCCCGGGCTCTGGCCCTGAGTGTGTCTGGGAAGATAGAGCTGGTTCAGGCCTGCCGGTGTATGCACACATGCAGACACACACTGTGTACACGTGGACACACACACCATGCACAAATGTGCACACAGGTATCATGCACACATGTACGGTGCACACACAGTGCCCTCGACCCCGTGGCTGCCGTGCCACTGGAGGGACCTCGGCACCAGCCCATCTGAGGCCCCTCCTTTCCCACAGAGGGAGCGAGAGAATGGCTCCAACCTGGCCTTCATGTTCCGCCTGCCGTTCGCCGCCGGCCGCGTCTTCAGCATCAGCATGTTGGACACACTGCTCTACCAGGTCAGCGGGGAAGCGGCAGCAGGAGGGTGGCGCCTGGGTGGGACCCCCGTCATGCCCTCAGCTCTTCAGCCTGGTCCCTGTTCTGAATGATAGGACTCCCTCTGAATGACCTTCCCTGGATTCCAAGGAGACCTCTGGGCCCTGTCCTTGCCCCAGGGATTTCTGGGCCCTTTTTGACCTATGGGTGCCTGGCAAGGGAGTTTTCTTAGAAAAGGCCTCCCAGAACTCTGCCTGTGGGTCATGTGGTGCTTGGGGACCTGGTGGTTCTGTGTGTGTGTATGCATGAGGGGTGGCGAGCCCGTGGCCGGTGGGGTATGGACCTGTGTCCCACGCCCGTGCCCGCGTGCCTCACTGTGGCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGGCCAGTCCTTCGTGAAGGACTACATGATCACCATCACCCGGCTGCTGCTGGGCCTGGACACCACGCCGGGCTCGGGGTACCTCTGTGCCGTAAGTGCCCCTGGCTGCGCTGGGCTGGGGGCGTGCTGGGCTGTCCAAGTGGGTGGATGGGCACCTGCCCCTGATTCACGGTGGCCAGGAGGCTCTGGGTGCTGCCACCTGCCCCAGCCAACTCAGGGTTCCCACCCTGCAGATGAAAATCACCGAGGGCGACCTGTGGATCCGCACGTACGGCCGCCTCTTCCAGAAGCTCTGCTCCTCCAGCGCCGAGATCCCCATTGGCATCTACCGGACAGAGAGCCACGTCTTCTCCACCTCGGAGGTTCTGGGGCAGCCTGGGGGCTGGGACTGTGGCAGCCCCTGTCCTGTGTGACCCACAGCATCCCCACCTTCCGGGGGCTGGGACTGTGGCAGCCCCTGTCCTGTGTGACCCACAGCATCCCCACCTTCAGTGTCAGGGACCTGGGCTAGATCAGCTTTGCTATTGCTGGCAGCTCCTTCCGTCTGGTCCGTGTGCCCACGTGTAGCGCTTCCAGCTGGAGCAGCCATGACCCCTACCGGGGGCAGAGAGGCTCAGGGGAGTCTTCAGGAAGAATACGGGCAGCCCCTGTGCTGCAGTCCACACAGCAGCAGGCACCGTGCCCACCAGCCCTAAGCATGTTCCGTGCAGACCCCAGGCTGAGGCGGCGTGGGGGGCAGGGGTGCGCCCACAGGTCCCAGACTGCGCCTGTTTCCTTTGCAGCCCCACGACCTCAGAGCCCAGGTAAGCAACCCCTCCGTGCCCACGCAGCTTCTGCGGAGCACCAGAACATCGCAGCTTCACATGGAGAAGCCTGCCAGGCCCCACCCACCCACCCACCCACAGGGCCCTGGGAAAGCCGAGGCAGGAGCGGGTCCCACGGATGTGTCGGCCCCAGCACGGCTCAGAGAAGGCTGTTGACACTCACTCCCTCCTGCACTGGTGGTGGGGAAGCTGAGGCCTGGGGGGAGTAGCCTGTGAGTTTGGACACCAGGTGCACCCCCGCCCCCTCCCAGGCCCCACCAAGGCAGGCAGCCCCCATGCCCATCTGGCCTGACCAGCCCCCAGCCTCCCAGGCCTTTCTGAAGGTGCCACCCAGGTGGGATGCCTACCTCTTCCCAGCACCCCACGACCCACAGGCTCTGGCACCCCACGTTCCCCAGGTTCGGGGCCTCCAAAGGGTGTGTTTGCAAGAGGGATCAGGGCTCATCTGCAGATGGAGAAATTGACACGCAGAGGGGGTGACCTCTCAGGGCAAGGCCAGGATGTGCTGGGGTCCAGATGGGTCCCAGGCCGGACCCACAGAAATAAGGGCTCAGAGAGGCGAAGGGAGCTGCCCTCAGCAGCCTGGCGAATCCCTTGACCAGGCCCGGGCAGGGTGGGTGGCCCGGCGATCTGTGCTCAGGAGGAAACCAGGCACATTCTTTCCAGAGGAGGAAGGCACATGCACCCTGGGGTCTGTCGTCGTCCTCTTCCCTAACACCCCCAGCTGCTCCCACGCAGGCCCCAAGCTGCAGAGCCCACACCTCTTCCTAAGCCCCTGCCCCAAAGCCCGCGACCCTCCCGGCAGCCTCACCCCTCCCCGCCCTGCCCTGCCCTGCCCTGCCCAGTCCCAGATCTCGGTGAACGTGGAGGACTGTGAGGACACACGGGAAGTGAAGGGGCCCTGGGGCTCCCGCGCTGGCACCGGAGGCAGCTCCCAGGGCCGCCACACGGGCGGCGGTGACCCCGCAGAGCACCCACTGCTACGGCGCAAGAGCCTGCAGTGGGCCCGGAGGCTGAGCCGCAAGGCGCCCAAGCAGGCAGGCCGGGCGGCGGCCGCGGAGTGGATCAGCCAGCAGCGCCTCAGCCTGTACCGGCGCTCTGAGCGCCAGGAGCTCTCCGAGCTGGTGAAGAACCGCATGAAGCACCTGGGGCTGCCCACCACCGGCTACGGTAAGGGC | CTCACCAGGAGCCTTCCTTCAGGCTGGCTCTGCCCATCCTGGGGCTGCACGGTGCCTGTCCTGCTCCCTCTGACCGGGGGTCTCGTGCTCAGGAAGGGCTCATCCGCTCCTGTGTGCTCCTGTCTTCACTGTCACTTGTGAATGGCACCCGCTCAGCCCCTGCTGAAGCCCTCCTGTCCAGAAAGCAGGAGGAAATCTCTGGAAGGTCCTGAAACGTCCAGCTTTTTCTTTCCTTCCACGTCTCTCTCTGGCCCTGTCGTGGTTCTTGTTTCCTGTTTAGCGTTGTTCTGAGTAAAGGAAAATTAAAATTGCAAGTTGTTCTGGAATTTCACGTTCGTCTCCGCGAAGTACGGCTGGAATTCTGGATGCAAATCACCACGATTGCAAACTCACACGCCCATCGCAGCTCATCGCACCTGGTTCTTGCCCCAAGAGCGGAAACGCCGCACGAAACTAATTCCACTGTTTCTCACGCCCCAGCCTTCCCACCGGCCACTGATGAGTAAGGGCGAACCCGGAGGAAAAGGGGCTTCTGCCTGCTTGTCCTGTCGCTGTCGTGTCTTTTACCTGTGAATCGAGTTCTGGTTCCGGGGGGAAGTGTGGCCTCCGTGGGCGCACACGCCTGCCTGTGCACACTTGCTTGGAGGCCGAGCTCCAGGGTTGGGGCCCTCCGCTGAAGAATGACCCGAGAGTTGGCCACGGCCGGGTCCGGAGCCCGTGGATGTACCGCCTCACGTGACAGAAGGGCCTCTGCAGATGGGATTAAGTCACGGGCCTCGAGATGGGAGATCCTCCTGGAGCATCCGGCAGGTTCACGCCGTCAGGGTCCTTCTAGGGAGAGGCCAGAGGTCCCCATCCGGTGGGAAGAAGCTGCACGGCCAGCTCAGAAGAGGGAAGAGGGAGCCACAAGCCAAGGCAGGTGGCCTCCAGGAGCTGGAAAAGGCAAGAGAAGGAGGCCCCCAGGCCTCCAGAGGGAGCGGGGCCCTGCCCAGGCCTGGATCCAGCCTGAGACACCTCAAACTCCCGACTCCAGAAACGGGAGAGAGGAGACAGGTGTCGTTTTAGCTGCTAAGTTTGCGGTCATTTGTTACGGGAGCCCCAGGAAACTCAGTGGGTCCATTGCAAGCCTGGAGCACAGGGACGGGGAGGCCAAGGACAGCAGGGAGCCCGATGCTTGCTCCTCCTCAGCCCAGACTCCACACGCCCTCCGGCACCACTTACAAAACACCGGGGGAGGAGAGGATTATCAGGAGGATTTGGAATTTCGGGATGGCAAGAGCAGGGCGCTTGACCAAGCGCAGTGCCCATGGCAGCCGCCGGGAGTCCACCTTCTCATCAGAGCCCCACATCACTCCTCCCGGGCTCTGGCCCTGAGTGTGTCTGGGAAGATAGAGCTGGTTCAGGCCTGCCGGTGTATGCACACATGCAGACACACACTGTGTACACGTGGACACACACACCATGCACAAATGTGCACACAGGTATCATGCACACATGTACGGTGCACACACAGTGCCCTCGACCCCGTGGCTGCCGTGCCACTGGAGGGACCTCGGCACCAGCCCATCTGAGGCCCCTCCTTTCCCACAGAGGGAGCGAGAGAATGGCTCCAACCTGGCCTTCATGTTCCGCCTGCCGTTCGCCGCCGGCCGCGTCTTCAGCATCAGCATGTTGGACACACTGCTCTACCAGGTCAGCGGGGAAGCGGCAGCAGGAGGGTGGCGCCTGGGTGGGACCCCCGTCATGCCCTCAGCTCTTCAGCCTGGTCCCTGTTCTGAATGATAGGACTCCCTCTGAATGACCTTCCCTGGATTCCAAGGAGACCTCTGGGCCCTGTCCTTGCCCCAGGGATTTCTGGGCCCTTTTTGACCTATGGGTGCCTGGCAAGGGAGTTTTCTTAGAAAAGGCCTCCCAGAACTCTGCCTGTGGGTCATGTGGTGCTTGGGGACCTGGTGGTTCTGTGTGTGTGTATGCATGAGGGGTGGCGAGCCCGTGGCCGGTGGGGTATGGACCTGTGTCCCACGCCCGTGCCCGCGTGCCTCACTGTGGCTCCCTCCCTCCCTCCCTCCCTCCCTGGCCAGTCCTTCGTGAAGGACTACATGATCACCATCACCCGGCTGCTGCTGGGCCTGGACACCACGCCGGGCTCGGGGTACCTCTGTGCCGTAAGTGCCCCTGGCTGCGCTGGGCTGGGGGCGTGCTGGGCTGTCCAAGTGGGTGGATGGGCACCTGCCCCTGATTCACGGTGGCCAGGAGGCTCTGGGTGCTGCCACCTGCCCCAGCCAACTCAGGGTTCCCACCCTGCAGATGAAAATCACCGAGGGCGACCTGTGGATCCGCACGTACGGCCGCCTCTTCCAGAAGCTCTGCTCCTCCAGCGCCGAGATCCCCATTGGCATCTACCGGACAGAGAGCCACGTCTTCTCCACCTCGGAGGTTCTGGGGCAGCCTGGGGGCTGGGACTGTGGCAGCCCCTGTCCTGTGTGACCCACAGCATCCCCACCTTCCGGGGGCTGGGACTGTGGCAGCCCCTGTCCTGTGTGACCCACAGCATCCCCACCTTCAGTGTCAGGGACCTGGGCTAGATCAGCTTTGCTATTGCTGGCAGCTCCTTCCGTCTGGTCCGTGTGCCCACGTGTAGCGCTTCCAGCTGGAGCAGCCATGACCCCTACCGGGGGCAGAGAGGCTCAGGGGAGTCTTCAGGAAGAATACGGGCAGCCCCTGTGCTGCAGTCCACACAGCAGCAGGCACCGTGCCCACCAGCCCTAAGCATGTTCCGTGCAGACCCCAGGCTGAGGCGGCGTGGGGGGCAGGGGTGCGCCCACAGGTCCCAGACTGCGCCTGTTTCCTTTGCAGCCCCACGACCTCAGAGCCCAGGTAAGCAACCCCTCCGTGCCCACGCAGCTTCTGCGGAGCACCAGAACATCGCAGCTTCACATGGAGAAGCCTGCCAGGCCCCACCCACCCACCCACCCACAGGGCCCTGGGAAAGCCGAGGCAGGAGCGGGTCCCACGGATGTGTCGGCCCCAGCACGGCTCAGAGAAGGCTGTTGACACTCACTCCCTCCTGCACTGGTGGTGGGGAAGCTGAGGCCTGGGGGGAGTAGCCTGTGAGTTTGGACACCAGGTGCACCCCCGCCCCCTCCCAGGCCCCACCAAGGCAGGCAGCCCCCATGCCCATCTGGCCTGACCAGCCCCCAGCCTCCCAGGCCTTTCTGAAGGTGCCACCCAGGTGGGATGCCTACCTCTTCCCAGCACCCCACGACCCACAGGCTCTGGCACCCCACGTTCCCCAGGTTCGGGGCCTCCAAAGGGTGTGTTTGCAAGAGGGATCAGGGCTCATCTGCAGATGGAGAAATTGACACGCAGAGGGGGTGACCTCTCAGGGCAAGGCCAGGATGTGCTGGGGTCCAGATGGGTCCCAGGCCGGACCCACAGAAATAAGGGCTCAGAGAGGCGAAGGGAGCTGCCCTCAGCAGCCTGGCGAATCCCTTGACCAGGCCCGGGCAGGGTGGGTGGCCCGGCGATCTGTGCTCAGGAGGAAACCAGGCACATTCTTTCCAGAGGAGGAAGGCACATGCACCCTGGGGTCTGTCGTCGTCCTCTTCCCTAACACCCCCAGCTGCTCCCACGCAGGCCCCAAGCTGCAGAGCCCACACCTCTTCCTAAGCCCCTGCCCCAAAGCCCGCGACCCTCCCGGCAGCCTCACCCCTCCCCGCCCTGCCCTGCCCTGCCCTGCCCAGTCCCAGATCTCGGTGAACGTGGAGGACTGTGAGGACACACGGGAAGTGAAGGGGCCCTGGGGCTCCCGCGCTGGCACCGGAGGCAGCTCCCAGGGCCGCCACACGGGCGGCGGTGACCCCGCAGAGCACCCACTGCTACGGCGCAAGAGCCTGCAGTGGGCCCGGAGGCTGAGCCGCAAGGCGCCCAAGCAGGCAGGCCGGGCGGCGGCCGCGGAGTGGATCAGCCAGCAGCGCCTCAGCCTGTACCGGCGCTCTGAGCGCCAGGAGCTCTCCGAGCTGGTGAAGAACCGCATGAAGCACCTGGGGCTGCCCACCACCGGCTACGGTAAGGGCNNNNNNNNNNNNNNNNNNNN | benign | 154,863 |
The chromosome 9, position 135784482 genetic variant in gene KCNT1 (potassium sodium-activated channel subfamily T member 1): benign or pathogenic? If pathogenic, indicate disease(s). | benign | CTCACCAGGAGCCTTCCTTCAGGCTGGCTCTGCCCATCCTGGGGCTGCACGGTGCCTGTCCTGCTCCCTCTGACCGGGGGTCTCGTGCTCAGGAAGGGCTCATCCGCTCCTGTGTGCTCCTGTCTTCACTGTCACTTGTGAATGGCACCCGCTCAGCCCCTGCTGAAGCCCTCCTGTCCAGAAAGCAGGAGGAAATCTCTGGAAGGTCCTGAAACGTCCAGCTTTTTCTTTCCTTCCACGTCTCTCTCTGGCCCTGTCGTGGTTCTTGTTTCCTGTTTAGCGTTGTTCTGAGTAAAGGAAAATTAAAATTGCAAGTTGTTCTGGAATTTCACGTTCGTCTCCGCGAAGTACGGCTGGAATTCTGGATGCAAATCACCACGATTGCAAACTCACACGCCCATCGCAGCTCATCGCACCTGGTTCTTGCCCCAAGAGCGGAAACGCCGCACGAAACTAATTCCACTGTTTCTCACGCCCCAGCCTTCCCACCGGCCACTGATGAGTAAGGGCGAACCCGGAGGAAAAGGGGCTTCTGCCTGCTTGTCCTGTCGCTGTCGTGTCTTTTACCTGTGAATCGAGTTCTGGTTCCGGGGGGAAGTGTGGCCTCCGTGGGCGCACACGCCTGCCTGTGCACACTTGCTTGGAGGCCGAGCTCCAGGGTTGGGGCCCTCCGCTGAAGAATGACCCGAGAGTTGGCCACGGCCGGGTCCGGAGCCCGTGGATGTACCGCCTCACGTGACAGAAGGGCCTCTGCAGATGGGATTAAGTCACGGGCCTCGAGATGGGAGATCCTCCTGGAGCATCCGGCAGGTTCACGCCGTCAGGGTCCTTCTAGGGAGAGGCCAGAGGTCCCCATCCGGTGGGAAGAAGCTGCACGGCCAGCTCAGAAGAGGGAAGAGGGAGCCACAAGCCAAGGCAGGTGGCCTCCAGGAGCTGGAAAAGGCAAGAGAAGGAGGCCCCCAGGCCTCCAGAGGGAGCGGGGCCCTGCCCAGGCCTGGATCCAGCCTGAGACACCTCAAACTCCCGACTCCAGAAACGGGAGAGAGGAGACAGGTGTCGTTTTAGCTGCTAAGTTTGCGGTCATTTGTTACGGGAGCCCCAGGAAACTCAGTGGGTCCATTGCAAGCCTGGAGCACAGGGACGGGGAGGCCAAGGACAGCAGGGAGCCCGATGCTTGCTCCTCCTCAGCCCAGACTCCACACGCCCTCCGGCACCACTTACAAAACACCGGGGGAGGAGAGGATTATCAGGAGGATTTGGAATTTCGGGATGGCAAGAGCAGGGCGCTTGACCAAGCGCAGTGCCCATGGCAGCCGCCGGGAGTCCACCTTCTCATCAGAGCCCCACATCACTCCTCCCGGGCTCTGGCCCTGAGTGTGTCTGGGAAGATAGAGCTGGTTCAGGCCTGCCGGTGTATGCACACATGCAGACACACACTGTGTACACGTGGACACACACACCATGCACAAATGTGCACACAGGTATCATGCACACATGTACGGTGCACACACAGTGCCCTCGACCCCGTGGCTGCCGTGCCACTGGAGGGACCTCGGCACCAGCCCATCTGAGGCCCCTCCTTTCCCACAGAGGGAGCGAGAGAATGGCTCCAACCTGGCCTTCATGTTCCGCCTGCCGTTCGCCGCCGGCCGCGTCTTCAGCATCAGCATGTTGGACACACTGCTCTACCAGGTCAGCGGGGAAGCGGCAGCAGGAGGGTGGCGCCTGGGTGGGACCCCCGTCATGCCCTCAGCTCTTCAGCCTGGTCCCTGTTCTGAATGATAGGACTCCCTCTGAATGACCTTCCCTGGATTCCAAGGAGACCTCTGGGCCCTGTCCTTGCCCCAGGGATTTCTGGGCCCTTTTTGACCTATGGGTGCCTGGCAAGGGAGTTTTCTTAGAAAAGGCCTCCCAGAACTCTGCCTGTGGGTCATGTGGTGCTTGGGGACCTGGTGGTTCTGTGTGTGTGTATGCATGAGGGGTGGCGAGCCCGTGGCCGGTGGGGTATGGACCTGTGTCCCACGCCCGTGCCCGCGTGCCTCACTGTGGCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGGCCAGTCCTTCGTGAAGGACTACATGATCACCATCACCCGGCTGCTGCTGGGCCTGGACACCACGCCGGGCTCGGGGTACCTCTGTGCCGTAAGTGCCCCTGGCTGCGCTGGGCTGGGGGCGTGCTGGGCTGTCCAAGTGGGTGGATGGGCACCTGCCCCTGATTCACGGTGGCCAGGAGGCTCTGGGTGCTGCCACCTGCCCCAGCCAACTCAGGGTTCCCACCCTGCAGATGAAAATCACCGAGGGCGACCTGTGGATCCGCACGTACGGCCGCCTCTTCCAGAAGCTCTGCTCCTCCAGCGCCGAGATCCCCATTGGCATCTACCGGACAGAGAGCCACGTCTTCTCCACCTCGGAGGTTCTGGGGCAGCCTGGGGGCTGGGACTGTGGCAGCCCCTGTCCTGTGTGACCCACAGCATCCCCACCTTCCGGGGGCTGGGACTGTGGCAGCCCCTGTCCTGTGTGACCCACAGCATCCCCACCTTCAGTGTCAGGGACCTGGGCTAGATCAGCTTTGCTATTGCTGGCAGCTCCTTCCGTCTGGTCCGTGTGCCCACGTGTAGCGCTTCCAGCTGGAGCAGCCATGACCCCTACCGGGGGCAGAGAGGCTCAGGGGAGTCTTCAGGAAGAATACGGGCAGCCCCTGTGCTGCAGTCCACACAGCAGCAGGCACCGTGCCCACCAGCCCTAAGCATGTTCCGTGCAGACCCCAGGCTGAGGCGGCGTGGGGGGCAGGGGTGCGCCCACAGGTCCCAGACTGCGCCTGTTTCCTTTGCAGCCCCACGACCTCAGAGCCCAGGTAAGCAACCCCTCCGTGCCCACGCAGCTTCTGCGGAGCACCAGAACATCGCAGCTTCACATGGAGAAGCCTGCCAGGCCCCACCCACCCACCCACCCACAGGGCCCTGGGAAAGCCGAGGCAGGAGCGGGTCCCACGGATGTGTCGGCCCCAGCACGGCTCAGAGAAGGCTGTTGACACTCACTCCCTCCTGCACTGGTGGTGGGGAAGCTGAGGCCTGGGGGGAGTAGCCTGTGAGTTTGGACACCAGGTGCACCCCCGCCCCCTCCCAGGCCCCACCAAGGCAGGCAGCCCCCATGCCCATCTGGCCTGACCAGCCCCCAGCCTCCCAGGCCTTTCTGAAGGTGCCACCCAGGTGGGATGCCTACCTCTTCCCAGCACCCCACGACCCACAGGCTCTGGCACCCCACGTTCCCCAGGTTCGGGGCCTCCAAAGGGTGTGTTTGCAAGAGGGATCAGGGCTCATCTGCAGATGGAGAAATTGACACGCAGAGGGGGTGACCTCTCAGGGCAAGGCCAGGATGTGCTGGGGTCCAGATGGGTCCCAGGCCGGACCCACAGAAATAAGGGCTCAGAGAGGCGAAGGGAGCTGCCCTCAGCAGCCTGGCGAATCCCTTGACCAGGCCCGGGCAGGGTGGGTGGCCCGGCGATCTGTGCTCAGGAGGAAACCAGGCACATTCTTTCCAGAGGAGGAAGGCACATGCACCCTGGGGTCTGTCGTCGTCCTCTTCCCTAACACCCCCAGCTGCTCCCACGCAGGCCCCAAGCTGCAGAGCCCACACCTCTTCCTAAGCCCCTGCCCCAAAGCCCGCGACCCTCCCGGCAGCCTCACCCCTCCCCGCCCTGCCCTGCCCTGCCCTGCCCAGTCCCAGATCTCGGTGAACGTGGAGGACTGTGAGGACACACGGGAAGTGAAGGGGCCCTGGGGCTCCCGCGCTGGCACCGGAGGCAGCTCCCAGGGCCGCCACACGGGCGGCGGTGACCCCGCAGAGCACCCACTGCTACGGCGCAAGAGCCTGCAGTGGGCCCGGAGGCTGAGCCGCAAGGCGCCCAAGCAGGCAGGCCGGGCGGCGGCCGCGGAGTGGATCAGCCAGCAGCGCCTCAGCCTGTACCGGCGCTCTGAGCGCCAGGAGCTCTCCGAGCTGGTGAAGAACCGCATGAAGCACCTGGGGCTGCCCACCACCGGCTACGGTAAGGGC | CTCACCAGGAGCCTTCCTTCAGGCTGGCTCTGCCCATCCTGGGGCTGCACGGTGCCTGTCCTGCTCCCTCTGACCGGGGGTCTCGTGCTCAGGAAGGGCTCATCCGCTCCTGTGTGCTCCTGTCTTCACTGTCACTTGTGAATGGCACCCGCTCAGCCCCTGCTGAAGCCCTCCTGTCCAGAAAGCAGGAGGAAATCTCTGGAAGGTCCTGAAACGTCCAGCTTTTTCTTTCCTTCCACGTCTCTCTCTGGCCCTGTCGTGGTTCTTGTTTCCTGTTTAGCGTTGTTCTGAGTAAAGGAAAATTAAAATTGCAAGTTGTTCTGGAATTTCACGTTCGTCTCCGCGAAGTACGGCTGGAATTCTGGATGCAAATCACCACGATTGCAAACTCACACGCCCATCGCAGCTCATCGCACCTGGTTCTTGCCCCAAGAGCGGAAACGCCGCACGAAACTAATTCCACTGTTTCTCACGCCCCAGCCTTCCCACCGGCCACTGATGAGTAAGGGCGAACCCGGAGGAAAAGGGGCTTCTGCCTGCTTGTCCTGTCGCTGTCGTGTCTTTTACCTGTGAATCGAGTTCTGGTTCCGGGGGGAAGTGTGGCCTCCGTGGGCGCACACGCCTGCCTGTGCACACTTGCTTGGAGGCCGAGCTCCAGGGTTGGGGCCCTCCGCTGAAGAATGACCCGAGAGTTGGCCACGGCCGGGTCCGGAGCCCGTGGATGTACCGCCTCACGTGACAGAAGGGCCTCTGCAGATGGGATTAAGTCACGGGCCTCGAGATGGGAGATCCTCCTGGAGCATCCGGCAGGTTCACGCCGTCAGGGTCCTTCTAGGGAGAGGCCAGAGGTCCCCATCCGGTGGGAAGAAGCTGCACGGCCAGCTCAGAAGAGGGAAGAGGGAGCCACAAGCCAAGGCAGGTGGCCTCCAGGAGCTGGAAAAGGCAAGAGAAGGAGGCCCCCAGGCCTCCAGAGGGAGCGGGGCCCTGCCCAGGCCTGGATCCAGCCTGAGACACCTCAAACTCCCGACTCCAGAAACGGGAGAGAGGAGACAGGTGTCGTTTTAGCTGCTAAGTTTGCGGTCATTTGTTACGGGAGCCCCAGGAAACTCAGTGGGTCCATTGCAAGCCTGGAGCACAGGGACGGGGAGGCCAAGGACAGCAGGGAGCCCGATGCTTGCTCCTCCTCAGCCCAGACTCCACACGCCCTCCGGCACCACTTACAAAACACCGGGGGAGGAGAGGATTATCAGGAGGATTTGGAATTTCGGGATGGCAAGAGCAGGGCGCTTGACCAAGCGCAGTGCCCATGGCAGCCGCCGGGAGTCCACCTTCTCATCAGAGCCCCACATCACTCCTCCCGGGCTCTGGCCCTGAGTGTGTCTGGGAAGATAGAGCTGGTTCAGGCCTGCCGGTGTATGCACACATGCAGACACACACTGTGTACACGTGGACACACACACCATGCACAAATGTGCACACAGGTATCATGCACACATGTACGGTGCACACACAGTGCCCTCGACCCCGTGGCTGCCGTGCCACTGGAGGGACCTCGGCACCAGCCCATCTGAGGCCCCTCCTTTCCCACAGAGGGAGCGAGAGAATGGCTCCAACCTGGCCTTCATGTTCCGCCTGCCGTTCGCCGCCGGCCGCGTCTTCAGCATCAGCATGTTGGACACACTGCTCTACCAGGTCAGCGGGGAAGCGGCAGCAGGAGGGTGGCGCCTGGGTGGGACCCCCGTCATGCCCTCAGCTCTTCAGCCTGGTCCCTGTTCTGAATGATAGGACTCCCTCTGAATGACCTTCCCTGGATTCCAAGGAGACCTCTGGGCCCTGTCCTTGCCCCAGGGATTTCTGGGCCCTTTTTGACCTATGGGTGCCTGGCAAGGGAGTTTTCTTAGAAAAGGCCTCCCAGAACTCTGCCTGTGGGTCATGTGGTGCTTGGGGACCTGGTGGTTCTGTGTGTGTGTATGCATGAGGGGTGGCGAGCCCGTGGCCGGTGGGGTATGGACCTGTGTCCCACGCCCGTGCCCGCGTGCCTCACTGTGGCTCCCTCCCTCCCTCCCTGGCCAGTCCTTCGTGAAGGACTACATGATCACCATCACCCGGCTGCTGCTGGGCCTGGACACCACGCCGGGCTCGGGGTACCTCTGTGCCGTAAGTGCCCCTGGCTGCGCTGGGCTGGGGGCGTGCTGGGCTGTCCAAGTGGGTGGATGGGCACCTGCCCCTGATTCACGGTGGCCAGGAGGCTCTGGGTGCTGCCACCTGCCCCAGCCAACTCAGGGTTCCCACCCTGCAGATGAAAATCACCGAGGGCGACCTGTGGATCCGCACGTACGGCCGCCTCTTCCAGAAGCTCTGCTCCTCCAGCGCCGAGATCCCCATTGGCATCTACCGGACAGAGAGCCACGTCTTCTCCACCTCGGAGGTTCTGGGGCAGCCTGGGGGCTGGGACTGTGGCAGCCCCTGTCCTGTGTGACCCACAGCATCCCCACCTTCCGGGGGCTGGGACTGTGGCAGCCCCTGTCCTGTGTGACCCACAGCATCCCCACCTTCAGTGTCAGGGACCTGGGCTAGATCAGCTTTGCTATTGCTGGCAGCTCCTTCCGTCTGGTCCGTGTGCCCACGTGTAGCGCTTCCAGCTGGAGCAGCCATGACCCCTACCGGGGGCAGAGAGGCTCAGGGGAGTCTTCAGGAAGAATACGGGCAGCCCCTGTGCTGCAGTCCACACAGCAGCAGGCACCGTGCCCACCAGCCCTAAGCATGTTCCGTGCAGACCCCAGGCTGAGGCGGCGTGGGGGGCAGGGGTGCGCCCACAGGTCCCAGACTGCGCCTGTTTCCTTTGCAGCCCCACGACCTCAGAGCCCAGGTAAGCAACCCCTCCGTGCCCACGCAGCTTCTGCGGAGCACCAGAACATCGCAGCTTCACATGGAGAAGCCTGCCAGGCCCCACCCACCCACCCACCCACAGGGCCCTGGGAAAGCCGAGGCAGGAGCGGGTCCCACGGATGTGTCGGCCCCAGCACGGCTCAGAGAAGGCTGTTGACACTCACTCCCTCCTGCACTGGTGGTGGGGAAGCTGAGGCCTGGGGGGAGTAGCCTGTGAGTTTGGACACCAGGTGCACCCCCGCCCCCTCCCAGGCCCCACCAAGGCAGGCAGCCCCCATGCCCATCTGGCCTGACCAGCCCCCAGCCTCCCAGGCCTTTCTGAAGGTGCCACCCAGGTGGGATGCCTACCTCTTCCCAGCACCCCACGACCCACAGGCTCTGGCACCCCACGTTCCCCAGGTTCGGGGCCTCCAAAGGGTGTGTTTGCAAGAGGGATCAGGGCTCATCTGCAGATGGAGAAATTGACACGCAGAGGGGGTGACCTCTCAGGGCAAGGCCAGGATGTGCTGGGGTCCAGATGGGTCCCAGGCCGGACCCACAGAAATAAGGGCTCAGAGAGGCGAAGGGAGCTGCCCTCAGCAGCCTGGCGAATCCCTTGACCAGGCCCGGGCAGGGTGGGTGGCCCGGCGATCTGTGCTCAGGAGGAAACCAGGCACATTCTTTCCAGAGGAGGAAGGCACATGCACCCTGGGGTCTGTCGTCGTCCTCTTCCCTAACACCCCCAGCTGCTCCCACGCAGGCCCCAAGCTGCAGAGCCCACACCTCTTCCTAAGCCCCTGCCCCAAAGCCCGCGACCCTCCCGGCAGCCTCACCCCTCCCCGCCCTGCCCTGCCCTGCCCTGCCCAGTCCCAGATCTCGGTGAACGTGGAGGACTGTGAGGACACACGGGAAGTGAAGGGGCCCTGGGGCTCCCGCGCTGGCACCGGAGGCAGCTCCCAGGGCCGCCACACGGGCGGCGGTGACCCCGCAGAGCACCCACTGCTACGGCGCAAGAGCCTGCAGTGGGCCCGGAGGCTGAGCCGCAAGGCGCCCAAGCAGGCAGGCCGGGCGGCGGCCGCGGAGTGGATCAGCCAGCAGCGCCTCAGCCTGTACCGGCGCTCTGAGCGCCAGGAGCTCTCCGAGCTGGTGAAGAACCGCATGAAGCACCTGGGGCTGCCCACCACCGGCTACGGTAAGGGCNNNNNNNNNNNNNNNNNNNNNNNNNNNN | benign | 154,864 |
Evaluate the clinical significance of the mutation at chromosome 9, position 135784631 in gene KCNT1 (potassium sodium-activated channel subfamily T member 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | CGCTCAGCCCCTGCTGAAGCCCTCCTGTCCAGAAAGCAGGAGGAAATCTCTGGAAGGTCCTGAAACGTCCAGCTTTTTCTTTCCTTCCACGTCTCTCTCTGGCCCTGTCGTGGTTCTTGTTTCCTGTTTAGCGTTGTTCTGAGTAAAGGAAAATTAAAATTGCAAGTTGTTCTGGAATTTCACGTTCGTCTCCGCGAAGTACGGCTGGAATTCTGGATGCAAATCACCACGATTGCAAACTCACACGCCCATCGCAGCTCATCGCACCTGGTTCTTGCCCCAAGAGCGGAAACGCCGCACGAAACTAATTCCACTGTTTCTCACGCCCCAGCCTTCCCACCGGCCACTGATGAGTAAGGGCGAACCCGGAGGAAAAGGGGCTTCTGCCTGCTTGTCCTGTCGCTGTCGTGTCTTTTACCTGTGAATCGAGTTCTGGTTCCGGGGGGAAGTGTGGCCTCCGTGGGCGCACACGCCTGCCTGTGCACACTTGCTTGGAGGCCGAGCTCCAGGGTTGGGGCCCTCCGCTGAAGAATGACCCGAGAGTTGGCCACGGCCGGGTCCGGAGCCCGTGGATGTACCGCCTCACGTGACAGAAGGGCCTCTGCAGATGGGATTAAGTCACGGGCCTCGAGATGGGAGATCCTCCTGGAGCATCCGGCAGGTTCACGCCGTCAGGGTCCTTCTAGGGAGAGGCCAGAGGTCCCCATCCGGTGGGAAGAAGCTGCACGGCCAGCTCAGAAGAGGGAAGAGGGAGCCACAAGCCAAGGCAGGTGGCCTCCAGGAGCTGGAAAAGGCAAGAGAAGGAGGCCCCCAGGCCTCCAGAGGGAGCGGGGCCCTGCCCAGGCCTGGATCCAGCCTGAGACACCTCAAACTCCCGACTCCAGAAACGGGAGAGAGGAGACAGGTGTCGTTTTAGCTGCTAAGTTTGCGGTCATTTGTTACGGGAGCCCCAGGAAACTCAGTGGGTCCATTGCAAGCCTGGAGCACAGGGACGGGGAGGCCAAGGACAGCAGGGAGCCCGATGCTTGCTCCTCCTCAGCCCAGACTCCACACGCCCTCCGGCACCACTTACAAAACACCGGGGGAGGAGAGGATTATCAGGAGGATTTGGAATTTCGGGATGGCAAGAGCAGGGCGCTTGACCAAGCGCAGTGCCCATGGCAGCCGCCGGGAGTCCACCTTCTCATCAGAGCCCCACATCACTCCTCCCGGGCTCTGGCCCTGAGTGTGTCTGGGAAGATAGAGCTGGTTCAGGCCTGCCGGTGTATGCACACATGCAGACACACACTGTGTACACGTGGACACACACACCATGCACAAATGTGCACACAGGTATCATGCACACATGTACGGTGCACACACAGTGCCCTCGACCCCGTGGCTGCCGTGCCACTGGAGGGACCTCGGCACCAGCCCATCTGAGGCCCCTCCTTTCCCACAGAGGGAGCGAGAGAATGGCTCCAACCTGGCCTTCATGTTCCGCCTGCCGTTCGCCGCCGGCCGCGTCTTCAGCATCAGCATGTTGGACACACTGCTCTACCAGGTCAGCGGGGAAGCGGCAGCAGGAGGGTGGCGCCTGGGTGGGACCCCCGTCATGCCCTCAGCTCTTCAGCCTGGTCCCTGTTCTGAATGATAGGACTCCCTCTGAATGACCTTCCCTGGATTCCAAGGAGACCTCTGGGCCCTGTCCTTGCCCCAGGGATTTCTGGGCCCTTTTTGACCTATGGGTGCCTGGCAAGGGAGTTTTCTTAGAAAAGGCCTCCCAGAACTCTGCCTGTGGGTCATGTGGTGCTTGGGGACCTGGTGGTTCTGTGTGTGTGTATGCATGAGGGGTGGCGAGCCCGTGGCCGGTGGGGTATGGACCTGTGTCCCACGCCCGTGCCCGCGTGCCTCACTGTGGCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGGCCAGTCCTTCGTGAAGGACTACATGATCACCATCACCCGGCTGCTGCTGGGCCTGGACACCACGCCGGGCTCGGGGTACCTCTGTGCCGTAAGTGCCCCTGGCTGCGCTGGGCTGGGGGCGTGCTGGGCTGTCCAAGTGGGTGGATGGGCACCTGCCCCTGATTCACGGTGGCCAGGAGGCTCTGGGTGCTGCCACCTGCCCCAGCCAACTCAGGGTTCCCACCCTGCAGATGAAAATCACCGAGGGCGACCTGTGGATCCGCACGTACGGCCGCCTCTTCCAGAAGCTCTGCTCCTCCAGCGCCGAGATCCCCATTGGCATCTACCGGACAGAGAGCCACGTCTTCTCCACCTCGGAGGTTCTGGGGCAGCCTGGGGGCTGGGACTGTGGCAGCCCCTGTCCTGTGTGACCCACAGCATCCCCACCTTCCGGGGGCTGGGACTGTGGCAGCCCCTGTCCTGTGTGACCCACAGCATCCCCACCTTCAGTGTCAGGGACCTGGGCTAGATCAGCTTTGCTATTGCTGGCAGCTCCTTCCGTCTGGTCCGTGTGCCCACGTGTAGCGCTTCCAGCTGGAGCAGCCATGACCCCTACCGGGGGCAGAGAGGCTCAGGGGAGTCTTCAGGAAGAATACGGGCAGCCCCTGTGCTGCAGTCCACACAGCAGCAGGCACCGTGCCCACCAGCCCTAAGCATGTTCCGTGCAGACCCCAGGCTGAGGCGGCGTGGGGGGCAGGGGTGCGCCCACAGGTCCCAGACTGCGCCTGTTTCCTTTGCAGCCCCACGACCTCAGAGCCCAGGTAAGCAACCCCTCCGTGCCCACGCAGCTTCTGCGGAGCACCAGAACATCGCAGCTTCACATGGAGAAGCCTGCCAGGCCCCACCCACCCACCCACCCACAGGGCCCTGGGAAAGCCGAGGCAGGAGCGGGTCCCACGGATGTGTCGGCCCCAGCACGGCTCAGAGAAGGCTGTTGACACTCACTCCCTCCTGCACTGGTGGTGGGGAAGCTGAGGCCTGGGGGGAGTAGCCTGTGAGTTTGGACACCAGGTGCACCCCCGCCCCCTCCCAGGCCCCACCAAGGCAGGCAGCCCCCATGCCCATCTGGCCTGACCAGCCCCCAGCCTCCCAGGCCTTTCTGAAGGTGCCACCCAGGTGGGATGCCTACCTCTTCCCAGCACCCCACGACCCACAGGCTCTGGCACCCCACGTTCCCCAGGTTCGGGGCCTCCAAAGGGTGTGTTTGCAAGAGGGATCAGGGCTCATCTGCAGATGGAGAAATTGACACGCAGAGGGGGTGACCTCTCAGGGCAAGGCCAGGATGTGCTGGGGTCCAGATGGGTCCCAGGCCGGACCCACAGAAATAAGGGCTCAGAGAGGCGAAGGGAGCTGCCCTCAGCAGCCTGGCGAATCCCTTGACCAGGCCCGGGCAGGGTGGGTGGCCCGGCGATCTGTGCTCAGGAGGAAACCAGGCACATTCTTTCCAGAGGAGGAAGGCACATGCACCCTGGGGTCTGTCGTCGTCCTCTTCCCTAACACCCCCAGCTGCTCCCACGCAGGCCCCAAGCTGCAGAGCCCACACCTCTTCCTAAGCCCCTGCCCCAAAGCCCGCGACCCTCCCGGCAGCCTCACCCCTCCCCGCCCTGCCCTGCCCTGCCCTGCCCAGTCCCAGATCTCGGTGAACGTGGAGGACTGTGAGGACACACGGGAAGTGAAGGGGCCCTGGGGCTCCCGCGCTGGCACCGGAGGCAGCTCCCAGGGCCGCCACACGGGCGGCGGTGACCCCGCAGAGCACCCACTGCTACGGCGCAAGAGCCTGCAGTGGGCCCGGAGGCTGAGCCGCAAGGCGCCCAAGCAGGCAGGCCGGGCGGCGGCCGCGGAGTGGATCAGCCAGCAGCGCCTCAGCCTGTACCGGCGCTCTGAGCGCCAGGAGCTCTCCGAGCTGGTGAAGAACCGCATGAAGCACCTGGGGCTGCCCACCACCGGCTACGGTAAGGGCACACGGCGCGGGTGGGGGCCGGACGGACGGACTGGGCCAGGGTCGGGCCACAGCCAAGAACAGTCGGCCACGGCGTCCCGGGGCCCGGGCCGTCCTCCTGTCTGTCATCTGTCTGTCTGTCAGCCTTTCTGGCCACCCTCTGCCTGCCT | CGCTCAGCCCCTGCTGAAGCCCTCCTGTCCAGAAAGCAGGAGGAAATCTCTGGAAGGTCCTGAAACGTCCAGCTTTTTCTTTCCTTCCACGTCTCTCTCTGGCCCTGTCGTGGTTCTTGTTTCCTGTTTAGCGTTGTTCTGAGTAAAGGAAAATTAAAATTGCAAGTTGTTCTGGAATTTCACGTTCGTCTCCGCGAAGTACGGCTGGAATTCTGGATGCAAATCACCACGATTGCAAACTCACACGCCCATCGCAGCTCATCGCACCTGGTTCTTGCCCCAAGAGCGGAAACGCCGCACGAAACTAATTCCACTGTTTCTCACGCCCCAGCCTTCCCACCGGCCACTGATGAGTAAGGGCGAACCCGGAGGAAAAGGGGCTTCTGCCTGCTTGTCCTGTCGCTGTCGTGTCTTTTACCTGTGAATCGAGTTCTGGTTCCGGGGGGAAGTGTGGCCTCCGTGGGCGCACACGCCTGCCTGTGCACACTTGCTTGGAGGCCGAGCTCCAGGGTTGGGGCCCTCCGCTGAAGAATGACCCGAGAGTTGGCCACGGCCGGGTCCGGAGCCCGTGGATGTACCGCCTCACGTGACAGAAGGGCCTCTGCAGATGGGATTAAGTCACGGGCCTCGAGATGGGAGATCCTCCTGGAGCATCCGGCAGGTTCACGCCGTCAGGGTCCTTCTAGGGAGAGGCCAGAGGTCCCCATCCGGTGGGAAGAAGCTGCACGGCCAGCTCAGAAGAGGGAAGAGGGAGCCACAAGCCAAGGCAGGTGGCCTCCAGGAGCTGGAAAAGGCAAGAGAAGGAGGCCCCCAGGCCTCCAGAGGGAGCGGGGCCCTGCCCAGGCCTGGATCCAGCCTGAGACACCTCAAACTCCCGACTCCAGAAACGGGAGAGAGGAGACAGGTGTCGTTTTAGCTGCTAAGTTTGCGGTCATTTGTTACGGGAGCCCCAGGAAACTCAGTGGGTCCATTGCAAGCCTGGAGCACAGGGACGGGGAGGCCAAGGACAGCAGGGAGCCCGATGCTTGCTCCTCCTCAGCCCAGACTCCACACGCCCTCCGGCACCACTTACAAAACACCGGGGGAGGAGAGGATTATCAGGAGGATTTGGAATTTCGGGATGGCAAGAGCAGGGCGCTTGACCAAGCGCAGTGCCCATGGCAGCCGCCGGGAGTCCACCTTCTCATCAGAGCCCCACATCACTCCTCCCGGGCTCTGGCCCTGAGTGTGTCTGGGAAGATAGAGCTGGTTCAGGCCTGCCGGTGTATGCACACATGCAGACACACACTGTGTACACGTGGACACACACACCATGCACAAATGTGCACACAGGTATCATGCACACATGTACGGTGCACACACAGTGCCCTCGACCCCGTGGCTGCCGTGCCACTGGAGGGACCTCGGCACCAGCCCATCTGAGGCCCCTCCTTTCCCACAGAGGGAGCGAGAGAATGGCTCCAACCTGGCCTTCATGTTCCGCCTGCCGTTCGCCGCCGGCCGCGTCTTCAGCATCAGCATGTTGGACACACTGCTCTACCAGGTCAGCGGGGAAGCGGCAGCAGGAGGGTGGCGCCTGGGTGGGACCCCCGTCATGCCCTCAGCTCTTCAGCCTGGTCCCTGTTCTGAATGATAGGACTCCCTCTGAATGACCTTCCCTGGATTCCAAGGAGACCTCTGGGCCCTGTCCTTGCCCCAGGGATTTCTGGGCCCTTTTTGACCTATGGGTGCCTGGCAAGGGAGTTTTCTTAGAAAAGGCCTCCCAGAACTCTGCCTGTGGGTCATGTGGTGCTTGGGGACCTGGTGGTTCTGTGTGTGTGTATGCATGAGGGGTGGCGAGCCCGTGGCCGGTGGGGTATGGACCTGTGTCCCACGCCCGTGCCCGCGTGCCTCACTGTGGCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGGCCAGTCCTTCGTGAAGGACTACATGATCACCATCACCCGGCTGCTGCTGGGCCTGGACACCACGCCGGGCTCGGGGTACCTCTGTGCCGTAAGTGCCCCTGGCTGGGCTGGGGGCGTGCTGGGCTGTCCAAGTGGGTGGATGGGCACCTGCCCCTGATTCACGGTGGCCAGGAGGCTCTGGGTGCTGCCACCTGCCCCAGCCAACTCAGGGTTCCCACCCTGCAGATGAAAATCACCGAGGGCGACCTGTGGATCCGCACGTACGGCCGCCTCTTCCAGAAGCTCTGCTCCTCCAGCGCCGAGATCCCCATTGGCATCTACCGGACAGAGAGCCACGTCTTCTCCACCTCGGAGGTTCTGGGGCAGCCTGGGGGCTGGGACTGTGGCAGCCCCTGTCCTGTGTGACCCACAGCATCCCCACCTTCCGGGGGCTGGGACTGTGGCAGCCCCTGTCCTGTGTGACCCACAGCATCCCCACCTTCAGTGTCAGGGACCTGGGCTAGATCAGCTTTGCTATTGCTGGCAGCTCCTTCCGTCTGGTCCGTGTGCCCACGTGTAGCGCTTCCAGCTGGAGCAGCCATGACCCCTACCGGGGGCAGAGAGGCTCAGGGGAGTCTTCAGGAAGAATACGGGCAGCCCCTGTGCTGCAGTCCACACAGCAGCAGGCACCGTGCCCACCAGCCCTAAGCATGTTCCGTGCAGACCCCAGGCTGAGGCGGCGTGGGGGGCAGGGGTGCGCCCACAGGTCCCAGACTGCGCCTGTTTCCTTTGCAGCCCCACGACCTCAGAGCCCAGGTAAGCAACCCCTCCGTGCCCACGCAGCTTCTGCGGAGCACCAGAACATCGCAGCTTCACATGGAGAAGCCTGCCAGGCCCCACCCACCCACCCACCCACAGGGCCCTGGGAAAGCCGAGGCAGGAGCGGGTCCCACGGATGTGTCGGCCCCAGCACGGCTCAGAGAAGGCTGTTGACACTCACTCCCTCCTGCACTGGTGGTGGGGAAGCTGAGGCCTGGGGGGAGTAGCCTGTGAGTTTGGACACCAGGTGCACCCCCGCCCCCTCCCAGGCCCCACCAAGGCAGGCAGCCCCCATGCCCATCTGGCCTGACCAGCCCCCAGCCTCCCAGGCCTTTCTGAAGGTGCCACCCAGGTGGGATGCCTACCTCTTCCCAGCACCCCACGACCCACAGGCTCTGGCACCCCACGTTCCCCAGGTTCGGGGCCTCCAAAGGGTGTGTTTGCAAGAGGGATCAGGGCTCATCTGCAGATGGAGAAATTGACACGCAGAGGGGGTGACCTCTCAGGGCAAGGCCAGGATGTGCTGGGGTCCAGATGGGTCCCAGGCCGGACCCACAGAAATAAGGGCTCAGAGAGGCGAAGGGAGCTGCCCTCAGCAGCCTGGCGAATCCCTTGACCAGGCCCGGGCAGGGTGGGTGGCCCGGCGATCTGTGCTCAGGAGGAAACCAGGCACATTCTTTCCAGAGGAGGAAGGCACATGCACCCTGGGGTCTGTCGTCGTCCTCTTCCCTAACACCCCCAGCTGCTCCCACGCAGGCCCCAAGCTGCAGAGCCCACACCTCTTCCTAAGCCCCTGCCCCAAAGCCCGCGACCCTCCCGGCAGCCTCACCCCTCCCCGCCCTGCCCTGCCCTGCCCTGCCCAGTCCCAGATCTCGGTGAACGTGGAGGACTGTGAGGACACACGGGAAGTGAAGGGGCCCTGGGGCTCCCGCGCTGGCACCGGAGGCAGCTCCCAGGGCCGCCACACGGGCGGCGGTGACCCCGCAGAGCACCCACTGCTACGGCGCAAGAGCCTGCAGTGGGCCCGGAGGCTGAGCCGCAAGGCGCCCAAGCAGGCAGGCCGGGCGGCGGCCGCGGAGTGGATCAGCCAGCAGCGCCTCAGCCTGTACCGGCGCTCTGAGCGCCAGGAGCTCTCCGAGCTGGTGAAGAACCGCATGAAGCACCTGGGGCTGCCCACCACCGGCTACGGTAAGGGCACACGGCGCGGGTGGGGGCCGGACGGACGGACTGGGCCAGGGTCGGGCCACAGCCAAGAACAGTCGGCCACGGCGTCCCGGGGCCCGGGCCGTCCTCCTGTCTGTCATCTGTCTGTCTGTCAGCCTTTCTGGCCACCCTCTGCCTGCCTNNNNN | benign | 154,871 |
Regarding the variant at chromosome 9 and position 135786170, affecting gene KCNT1 (potassium sodium-activated channel subfamily T member 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | CCAGGTCAGCGGGGAAGCGGCAGCAGGAGGGTGGCGCCTGGGTGGGACCCCCGTCATGCCCTCAGCTCTTCAGCCTGGTCCCTGTTCTGAATGATAGGACTCCCTCTGAATGACCTTCCCTGGATTCCAAGGAGACCTCTGGGCCCTGTCCTTGCCCCAGGGATTTCTGGGCCCTTTTTGACCTATGGGTGCCTGGCAAGGGAGTTTTCTTAGAAAAGGCCTCCCAGAACTCTGCCTGTGGGTCATGTGGTGCTTGGGGACCTGGTGGTTCTGTGTGTGTGTATGCATGAGGGGTGGCGAGCCCGTGGCCGGTGGGGTATGGACCTGTGTCCCACGCCCGTGCCCGCGTGCCTCACTGTGGCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGGCCAGTCCTTCGTGAAGGACTACATGATCACCATCACCCGGCTGCTGCTGGGCCTGGACACCACGCCGGGCTCGGGGTACCTCTGTGCCGTAAGTGCCCCTGGCTGCGCTGGGCTGGGGGCGTGCTGGGCTGTCCAAGTGGGTGGATGGGCACCTGCCCCTGATTCACGGTGGCCAGGAGGCTCTGGGTGCTGCCACCTGCCCCAGCCAACTCAGGGTTCCCACCCTGCAGATGAAAATCACCGAGGGCGACCTGTGGATCCGCACGTACGGCCGCCTCTTCCAGAAGCTCTGCTCCTCCAGCGCCGAGATCCCCATTGGCATCTACCGGACAGAGAGCCACGTCTTCTCCACCTCGGAGGTTCTGGGGCAGCCTGGGGGCTGGGACTGTGGCAGCCCCTGTCCTGTGTGACCCACAGCATCCCCACCTTCCGGGGGCTGGGACTGTGGCAGCCCCTGTCCTGTGTGACCCACAGCATCCCCACCTTCAGTGTCAGGGACCTGGGCTAGATCAGCTTTGCTATTGCTGGCAGCTCCTTCCGTCTGGTCCGTGTGCCCACGTGTAGCGCTTCCAGCTGGAGCAGCCATGACCCCTACCGGGGGCAGAGAGGCTCAGGGGAGTCTTCAGGAAGAATACGGGCAGCCCCTGTGCTGCAGTCCACACAGCAGCAGGCACCGTGCCCACCAGCCCTAAGCATGTTCCGTGCAGACCCCAGGCTGAGGCGGCGTGGGGGGCAGGGGTGCGCCCACAGGTCCCAGACTGCGCCTGTTTCCTTTGCAGCCCCACGACCTCAGAGCCCAGGTAAGCAACCCCTCCGTGCCCACGCAGCTTCTGCGGAGCACCAGAACATCGCAGCTTCACATGGAGAAGCCTGCCAGGCCCCACCCACCCACCCACCCACAGGGCCCTGGGAAAGCCGAGGCAGGAGCGGGTCCCACGGATGTGTCGGCCCCAGCACGGCTCAGAGAAGGCTGTTGACACTCACTCCCTCCTGCACTGGTGGTGGGGAAGCTGAGGCCTGGGGGGAGTAGCCTGTGAGTTTGGACACCAGGTGCACCCCCGCCCCCTCCCAGGCCCCACCAAGGCAGGCAGCCCCCATGCCCATCTGGCCTGACCAGCCCCCAGCCTCCCAGGCCTTTCTGAAGGTGCCACCCAGGTGGGATGCCTACCTCTTCCCAGCACCCCACGACCCACAGGCTCTGGCACCCCACGTTCCCCAGGTTCGGGGCCTCCAAAGGGTGTGTTTGCAAGAGGGATCAGGGCTCATCTGCAGATGGAGAAATTGACACGCAGAGGGGGTGACCTCTCAGGGCAAGGCCAGGATGTGCTGGGGTCCAGATGGGTCCCAGGCCGGACCCACAGAAATAAGGGCTCAGAGAGGCGAAGGGAGCTGCCCTCAGCAGCCTGGCGAATCCCTTGACCAGGCCCGGGCAGGGTGGGTGGCCCGGCGATCTGTGCTCAGGAGGAAACCAGGCACATTCTTTCCAGAGGAGGAAGGCACATGCACCCTGGGGTCTGTCGTCGTCCTCTTCCCTAACACCCCCAGCTGCTCCCACGCAGGCCCCAAGCTGCAGAGCCCACACCTCTTCCTAAGCCCCTGCCCCAAAGCCCGCGACCCTCCCGGCAGCCTCACCCCTCCCCGCCCTGCCCTGCCCTGCCCTGCCCAGTCCCAGATCTCGGTGAACGTGGAGGACTGTGAGGACACACGGGAAGTGAAGGGGCCCTGGGGCTCCCGCGCTGGCACCGGAGGCAGCTCCCAGGGCCGCCACACGGGCGGCGGTGACCCCGCAGAGCACCCACTGCTACGGCGCAAGAGCCTGCAGTGGGCCCGGAGGCTGAGCCGCAAGGCGCCCAAGCAGGCAGGCCGGGCGGCGGCCGCGGAGTGGATCAGCCAGCAGCGCCTCAGCCTGTACCGGCGCTCTGAGCGCCAGGAGCTCTCCGAGCTGGTGAAGAACCGCATGAAGCACCTGGGGCTGCCCACCACCGGCTACGGTAAGGGCACACGGCGCGGGTGGGGGCCGGACGGACGGACTGGGCCAGGGTCGGGCCACAGCCAAGAACAGTCGGCCACGGCGTCCCGGGGCCCGGGCCGTCCTCCTGTCTGTCATCTGTCTGTCTGTCAGCCTTTCTGGCCACCCTCTGCCTGCCTCTACTGTGGGGCCAGCTGTGGGCACCACCACGGCCCAGCAGAGGCCCCGTGCAGAGGAGGGAAGTGGCCATGGCCCACCCTGGTGCTGGGAGGCCACAGGACCCTTGGGCATCCCTGGTGTGAGCCCCGTAGGGAGGTGCTCGCTTCCACTGCTCTGGGGCCTCAGTTTCCCTCTCTGCCAAATTAGAGACAGGAGCTGGCTGAGCCCTTTGGCCAGGGGAGGCAGCTGTGGGGTGGAGAGGGCCAGGCTGGGCTCCCCAAGTCGAGGGCATCAGCTAGAGTTGGGCCAGCCAGCTGCAGCCAGGCCTGCTGGACAGCGGATACCCAGGGTCCCTGAGTTCTCGCAGAGAACAAGACTGGTGGGGACCCCCTCCCAGAGCCCCCAGCCCTCCCAGCAGCCAGGGTAGGGGGGAGACTTTGGGGGAACAGTTGGGGGAAAGGCCCATGCCAGGACATGCCTCTGTCCACCATGGGCCTGTTGCCACTCCCACGGCACAGCCCCCTCCTGCCGCTTCAGGGAGCCCGGCGTCCGTCTTCAGCAACAGATCCGTGCAGCCCCCTCTCTCTGCGCCTTGTGGTGGGAAGTGTGCTTGGGCTTCGGGGCCCTACATGCCCTGCCTGGCGTGGAGAGAAGCTCATCCCCTCCCTCACTCTAGAGATGCTACCTCCGTTGATGAAGCCATGGGCCCCAGCTCCCCAGCACCGGGCCGCTACCCAGTGACACCCACCCCTGAGCCGGGTCGAGGCTCCACCTTCCCTTTGTTCCATCTCAGGGACTTGCCTGATGCTCAGGGCTGCCTCTGTCCCGTCGGAGTGCCCCGTCTCCCAACCCTGCTTCCTGCGTCTGTCACCTGGGTCGGGGTCTTGAGTCCCCTGAGCAGAGTCAGGAGCTCACGGCTGGCCCAGGAGCTGCTCACGGGTGACTGGGCTGGGCTGGCCTGCGGGCCCGAAGGAGACTCAGAGGCCAGGGTTTGGGGAACAGGTGGCCTGTGAAGACCTTTCCCGGCCCCCAGCCCTGTGGGCGCTGGGGAAGGTGTCCCCCTGTCCCCGCCTTGAAGCTTCCCTCCATCCCCACAGTGTCCCTGTCCCGGGAGGGACTTCACGCCCTTTCAGGTGGGGCTCACGAGGCTGAGGGGGGTGCCCAGCATTCATGTTTGTGGTCCCCTGTGACTGCTGGCAGAGGATGATCCCGCCCGGTCTGGCCACCCCCAGAGCTGGTGCCTGCCTCTGCGACCGCTGCCTGCCCCCAGAGCTTGGCAAGGAAGGAGCAACTGCCTTTCTGGTGACCGACTCGCTTCTGGTGGCCGGCCTCCCGTGCAGCTGCCCCTGCACCCGCCCACTGTGCCGGCCGCCCGCACCTCGCTTGCTGATATTCTCTCTCTCTCTCTTTCTGTCTGTGCCTCTTTCTGTGTGTTCTGTAGAGGACGTAGCAAATTTAACAGCCAGTGATGTCATGAATCGGGTAAACCTGGGATATTTGCAAGGTAATTCTGCCCTGGCGGGTGCCGACCACCGCACAACGGGGCTCGCCAACCCTTC | CCAGGTCAGCGGGGAAGCGGCAGCAGGAGGGTGGCGCCTGGGTGGGACCCCCGTCATGCCCTCAGCTCTTCAGCCTGGTCCCTGTTCTGAATGATAGGACTCCCTCTGAATGACCTTCCCTGGATTCCAAGGAGACCTCTGGGCCCTGTCCTTGCCCCAGGGATTTCTGGGCCCTTTTTGACCTATGGGTGCCTGGCAAGGGAGTTTTCTTAGAAAAGGCCTCCCAGAACTCTGCCTGTGGGTCATGTGGTGCTTGGGGACCTGGTGGTTCTGTGTGTGTGTATGCATGAGGGGTGGCGAGCCCGTGGCCGGTGGGGTATGGACCTGTGTCCCACGCCCGTGCCCGCGTGCCTCACTGTGGCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGGCCAGTCCTTCGTGAAGGACTACATGATCACCATCACCCGGCTGCTGCTGGGCCTGGACACCACGCCGGGCTCGGGGTACCTCTGTGCCGTAAGTGCCCCTGGCTGCGCTGGGCTGGGGGCGTGCTGGGCTGTCCAAGTGGGTGGATGGGCACCTGCCCCTGATTCACGGTGGCCAGGAGGCTCTGGGTGCTGCCACCTGCCCCAGCCAACTCAGGGTTCCCACCCTGCAGATGAAAATCACCGAGGGCGACCTGTGGATCCGCACGTACGGCCGCCTCTTCCAGAAGCTCTGCTCCTCCAGCGCCGAGATCCCCATTGGCATCTACCGGACAGAGAGCCACGTCTTCTCCACCTCGGAGGTTCTGGGGCAGCCTGGGGGCTGGGACTGTGGCAGCCCCTGTCCTGTGTGACCCACAGCATCCCCACCTTCCGGGGGCTGGGACTGTGGCAGCCCCTGTCCTGTGTGACCCACAGCATCCCCACCTTCAGTGTCAGGGACCTGGGCTAGATCAGCTTTGCTATTGCTGGCAGCTCCTTCCGTCTGGTCCGTGTGCCCACGTGTAGCGCTTCCAGCTGGAGCAGCCATGACCCCTACCGGGGGCAGAGAGGCTCAGGGGAGTCTTCAGGAAGAATACGGGCAGCCCCTGTGCTGCAGTCCACACAGCAGCAGGCACCGTGCCCACCAGCCCTAAGCATGTTCCGTGCAGACCCCAGGCTGAGGCGGCGTGGGGGGCAGGGGTGCGCCCACAGGTCCCAGACTGCGCCTGTTTCCTTTGCAGCCCCACGACCTCAGAGCCCAGGTAAGCAACCCCTCCGTGCCCACGCAGCTTCTGCGGAGCACCAGAACATCGCAGCTTCACATGGAGAAGCCTGCCAGGCCCCACCCACCCACCCACCCACAGGGCCCTGGGAAAGCCGAGGCAGGAGCGGGTCCCACGGATGTGTCGGCCCCAGCACGGCTCAGAGAAGGCTGTTGACACTCACTCCCTCCTGCACTGGTGGTGGGGAAGCTGAGGCCTGGGGGGAGTAGCCTGTGAGTTTGGACACCAGGTGCACCCCCGCCCCCTCCCAGGCCCCACCAAGGCAGGCAGCCCCCATGCCCATCTGGCCTGACCAGCCCCCAGCCTCCCAGGCCTTTCTGAAGGTGCCACCCAGGTGGGATGCCTACCTCTTCCCAGCACCCCACGACCCACAGGCTCTGGCACCCCACGTTCCCCAGGTTCGGGGCCTCCAAAGGGTGTGTTTGCAAGAGGGATCAGGGCTCATCTGCAGATGGAGAAATTGACACGCAGAGGGGGTGACCTCTCAGGGCAAGGCCAGGATGTGCTGGGGTCCAGATGGGTCCCAGGCCGGACCCACAGAAATAAGGGCTCAGAGAGGCGAAGGGAGCTGCCCTCAGCAGCCTGGCGAATCCCTTGACCAGGCCCGGGCAGGGTGGGTGGCCCGGCGATCTGTGCTCAGGAGGAAACCAGGCACATTCTTTCCAGAGGAGGAAGGCACATGCACCCTGGGGTCTGTCGTCGTCCTCTTCCCTAACACCCCCAGCTGCTCCCACGCAGGCCCCAAGCTGCAGAGCCCACACCTCTTCCTAAGCCCCTGCCCCAAAGCCCGCGACCCTCCCGGCAGCCTCACCCCTCCCCGCCCTGCCCTGCCCTGCCCTGCCCTGCCCAGTCCCAGATCTCGGTGAACGTGGAGGACTGTGAGGACACACGGGAAGTGAAGGGGCCCTGGGGCTCCCGCGCTGGCACCGGAGGCAGCTCCCAGGGCCGCCACACGGGCGGCGGTGACCCCGCAGAGCACCCACTGCTACGGCGCAAGAGCCTGCAGTGGGCCCGGAGGCTGAGCCGCAAGGCGCCCAAGCAGGCAGGCCGGGCGGCGGCCGCGGAGTGGATCAGCCAGCAGCGCCTCAGCCTGTACCGGCGCTCTGAGCGCCAGGAGCTCTCCGAGCTGGTGAAGAACCGCATGAAGCACCTGGGGCTGCCCACCACCGGCTACGGTAAGGGCACACGGCGCGGGTGGGGGCCGGACGGACGGACTGGGCCAGGGTCGGGCCACAGCCAAGAACAGTCGGCCACGGCGTCCCGGGGCCCGGGCCGTCCTCCTGTCTGTCATCTGTCTGTCTGTCAGCCTTTCTGGCCACCCTCTGCCTGCCTCTACTGTGGGGCCAGCTGTGGGCACCACCACGGCCCAGCAGAGGCCCCGTGCAGAGGAGGGAAGTGGCCATGGCCCACCCTGGTGCTGGGAGGCCACAGGACCCTTGGGCATCCCTGGTGTGAGCCCCGTAGGGAGGTGCTCGCTTCCACTGCTCTGGGGCCTCAGTTTCCCTCTCTGCCAAATTAGAGACAGGAGCTGGCTGAGCCCTTTGGCCAGGGGAGGCAGCTGTGGGGTGGAGAGGGCCAGGCTGGGCTCCCCAAGTCGAGGGCATCAGCTAGAGTTGGGCCAGCCAGCTGCAGCCAGGCCTGCTGGACAGCGGATACCCAGGGTCCCTGAGTTCTCGCAGAGAACAAGACTGGTGGGGACCCCCTCCCAGAGCCCCCAGCCCTCCCAGCAGCCAGGGTAGGGGGGAGACTTTGGGGGAACAGTTGGGGGAAAGGCCCATGCCAGGACATGCCTCTGTCCACCATGGGCCTGTTGCCACTCCCACGGCACAGCCCCCTCCTGCCGCTTCAGGGAGCCCGGCGTCCGTCTTCAGCAACAGATCCGTGCAGCCCCCTCTCTCTGCGCCTTGTGGTGGGAAGTGTGCTTGGGCTTCGGGGCCCTACATGCCCTGCCTGGCGTGGAGAGAAGCTCATCCCCTCCCTCACTCTAGAGATGCTACCTCCGTTGATGAAGCCATGGGCCCCAGCTCCCCAGCACCGGGCCGCTACCCAGTGACACCCACCCCTGAGCCGGGTCGAGGCTCCACCTTCCCTTTGTTCCATCTCAGGGACTTGCCTGATGCTCAGGGCTGCCTCTGTCCCGTCGGAGTGCCCCGTCTCCCAACCCTGCTTCCTGCGTCTGTCACCTGGGTCGGGGTCTTGAGTCCCCTGAGCAGAGTCAGGAGCTCACGGCTGGCCCAGGAGCTGCTCACGGGTGACTGGGCTGGGCTGGCCTGCGGGCCCGAAGGAGACTCAGAGGCCAGGGTTTGGGGAACAGGTGGCCTGTGAAGACCTTTCCCGGCCCCCAGCCCTGTGGGCGCTGGGGAAGGTGTCCCCCTGTCCCCGCCTTGAAGCTTCCCTCCATCCCCACAGTGTCCCTGTCCCGGGAGGGACTTCACGCCCTTTCAGGTGGGGCTCACGAGGCTGAGGGGGGTGCCCAGCATTCATGTTTGTGGTCCCCTGTGACTGCTGGCAGAGGATGATCCCGCCCGGTCTGGCCACCCCCAGAGCTGGTGCCTGCCTCTGCGACCGCTGCCTGCCCCCAGAGCTTGGCAAGGAAGGAGCAACTGCCTTTCTGGTGACCGACTCGCTTCTGGTGGCCGGCCTCCCGTGCAGCTGCCCCTGCACCCGCCCACTGTGCCGGCCGCCCGCACCTCGCTTGCTGATATTCTCTCTCTCTCTCTTTCTGTCTGTGCCTCTTTCTGTGTGTTCTGTAGAGGACGTAGCAAATTTAACAGCCAGTGATGTCATGAATCGGGTAAACCTGGGATATTTGCAAGGTAATTCTGCCCTGGCGGGTGCCGACCACCGCACAACGGGGCTCGCCAAC | benign | 154,888 |
Mutation at chromosome 9, position 135786170, within KCNT1 (potassium sodium-activated channel subfamily T member 1): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | CCAGGTCAGCGGGGAAGCGGCAGCAGGAGGGTGGCGCCTGGGTGGGACCCCCGTCATGCCCTCAGCTCTTCAGCCTGGTCCCTGTTCTGAATGATAGGACTCCCTCTGAATGACCTTCCCTGGATTCCAAGGAGACCTCTGGGCCCTGTCCTTGCCCCAGGGATTTCTGGGCCCTTTTTGACCTATGGGTGCCTGGCAAGGGAGTTTTCTTAGAAAAGGCCTCCCAGAACTCTGCCTGTGGGTCATGTGGTGCTTGGGGACCTGGTGGTTCTGTGTGTGTGTATGCATGAGGGGTGGCGAGCCCGTGGCCGGTGGGGTATGGACCTGTGTCCCACGCCCGTGCCCGCGTGCCTCACTGTGGCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGGCCAGTCCTTCGTGAAGGACTACATGATCACCATCACCCGGCTGCTGCTGGGCCTGGACACCACGCCGGGCTCGGGGTACCTCTGTGCCGTAAGTGCCCCTGGCTGCGCTGGGCTGGGGGCGTGCTGGGCTGTCCAAGTGGGTGGATGGGCACCTGCCCCTGATTCACGGTGGCCAGGAGGCTCTGGGTGCTGCCACCTGCCCCAGCCAACTCAGGGTTCCCACCCTGCAGATGAAAATCACCGAGGGCGACCTGTGGATCCGCACGTACGGCCGCCTCTTCCAGAAGCTCTGCTCCTCCAGCGCCGAGATCCCCATTGGCATCTACCGGACAGAGAGCCACGTCTTCTCCACCTCGGAGGTTCTGGGGCAGCCTGGGGGCTGGGACTGTGGCAGCCCCTGTCCTGTGTGACCCACAGCATCCCCACCTTCCGGGGGCTGGGACTGTGGCAGCCCCTGTCCTGTGTGACCCACAGCATCCCCACCTTCAGTGTCAGGGACCTGGGCTAGATCAGCTTTGCTATTGCTGGCAGCTCCTTCCGTCTGGTCCGTGTGCCCACGTGTAGCGCTTCCAGCTGGAGCAGCCATGACCCCTACCGGGGGCAGAGAGGCTCAGGGGAGTCTTCAGGAAGAATACGGGCAGCCCCTGTGCTGCAGTCCACACAGCAGCAGGCACCGTGCCCACCAGCCCTAAGCATGTTCCGTGCAGACCCCAGGCTGAGGCGGCGTGGGGGGCAGGGGTGCGCCCACAGGTCCCAGACTGCGCCTGTTTCCTTTGCAGCCCCACGACCTCAGAGCCCAGGTAAGCAACCCCTCCGTGCCCACGCAGCTTCTGCGGAGCACCAGAACATCGCAGCTTCACATGGAGAAGCCTGCCAGGCCCCACCCACCCACCCACCCACAGGGCCCTGGGAAAGCCGAGGCAGGAGCGGGTCCCACGGATGTGTCGGCCCCAGCACGGCTCAGAGAAGGCTGTTGACACTCACTCCCTCCTGCACTGGTGGTGGGGAAGCTGAGGCCTGGGGGGAGTAGCCTGTGAGTTTGGACACCAGGTGCACCCCCGCCCCCTCCCAGGCCCCACCAAGGCAGGCAGCCCCCATGCCCATCTGGCCTGACCAGCCCCCAGCCTCCCAGGCCTTTCTGAAGGTGCCACCCAGGTGGGATGCCTACCTCTTCCCAGCACCCCACGACCCACAGGCTCTGGCACCCCACGTTCCCCAGGTTCGGGGCCTCCAAAGGGTGTGTTTGCAAGAGGGATCAGGGCTCATCTGCAGATGGAGAAATTGACACGCAGAGGGGGTGACCTCTCAGGGCAAGGCCAGGATGTGCTGGGGTCCAGATGGGTCCCAGGCCGGACCCACAGAAATAAGGGCTCAGAGAGGCGAAGGGAGCTGCCCTCAGCAGCCTGGCGAATCCCTTGACCAGGCCCGGGCAGGGTGGGTGGCCCGGCGATCTGTGCTCAGGAGGAAACCAGGCACATTCTTTCCAGAGGAGGAAGGCACATGCACCCTGGGGTCTGTCGTCGTCCTCTTCCCTAACACCCCCAGCTGCTCCCACGCAGGCCCCAAGCTGCAGAGCCCACACCTCTTCCTAAGCCCCTGCCCCAAAGCCCGCGACCCTCCCGGCAGCCTCACCCCTCCCCGCCCTGCCCTGCCCTGCCCTGCCCAGTCCCAGATCTCGGTGAACGTGGAGGACTGTGAGGACACACGGGAAGTGAAGGGGCCCTGGGGCTCCCGCGCTGGCACCGGAGGCAGCTCCCAGGGCCGCCACACGGGCGGCGGTGACCCCGCAGAGCACCCACTGCTACGGCGCAAGAGCCTGCAGTGGGCCCGGAGGCTGAGCCGCAAGGCGCCCAAGCAGGCAGGCCGGGCGGCGGCCGCGGAGTGGATCAGCCAGCAGCGCCTCAGCCTGTACCGGCGCTCTGAGCGCCAGGAGCTCTCCGAGCTGGTGAAGAACCGCATGAAGCACCTGGGGCTGCCCACCACCGGCTACGGTAAGGGCACACGGCGCGGGTGGGGGCCGGACGGACGGACTGGGCCAGGGTCGGGCCACAGCCAAGAACAGTCGGCCACGGCGTCCCGGGGCCCGGGCCGTCCTCCTGTCTGTCATCTGTCTGTCTGTCAGCCTTTCTGGCCACCCTCTGCCTGCCTCTACTGTGGGGCCAGCTGTGGGCACCACCACGGCCCAGCAGAGGCCCCGTGCAGAGGAGGGAAGTGGCCATGGCCCACCCTGGTGCTGGGAGGCCACAGGACCCTTGGGCATCCCTGGTGTGAGCCCCGTAGGGAGGTGCTCGCTTCCACTGCTCTGGGGCCTCAGTTTCCCTCTCTGCCAAATTAGAGACAGGAGCTGGCTGAGCCCTTTGGCCAGGGGAGGCAGCTGTGGGGTGGAGAGGGCCAGGCTGGGCTCCCCAAGTCGAGGGCATCAGCTAGAGTTGGGCCAGCCAGCTGCAGCCAGGCCTGCTGGACAGCGGATACCCAGGGTCCCTGAGTTCTCGCAGAGAACAAGACTGGTGGGGACCCCCTCCCAGAGCCCCCAGCCCTCCCAGCAGCCAGGGTAGGGGGGAGACTTTGGGGGAACAGTTGGGGGAAAGGCCCATGCCAGGACATGCCTCTGTCCACCATGGGCCTGTTGCCACTCCCACGGCACAGCCCCCTCCTGCCGCTTCAGGGAGCCCGGCGTCCGTCTTCAGCAACAGATCCGTGCAGCCCCCTCTCTCTGCGCCTTGTGGTGGGAAGTGTGCTTGGGCTTCGGGGCCCTACATGCCCTGCCTGGCGTGGAGAGAAGCTCATCCCCTCCCTCACTCTAGAGATGCTACCTCCGTTGATGAAGCCATGGGCCCCAGCTCCCCAGCACCGGGCCGCTACCCAGTGACACCCACCCCTGAGCCGGGTCGAGGCTCCACCTTCCCTTTGTTCCATCTCAGGGACTTGCCTGATGCTCAGGGCTGCCTCTGTCCCGTCGGAGTGCCCCGTCTCCCAACCCTGCTTCCTGCGTCTGTCACCTGGGTCGGGGTCTTGAGTCCCCTGAGCAGAGTCAGGAGCTCACGGCTGGCCCAGGAGCTGCTCACGGGTGACTGGGCTGGGCTGGCCTGCGGGCCCGAAGGAGACTCAGAGGCCAGGGTTTGGGGAACAGGTGGCCTGTGAAGACCTTTCCCGGCCCCCAGCCCTGTGGGCGCTGGGGAAGGTGTCCCCCTGTCCCCGCCTTGAAGCTTCCCTCCATCCCCACAGTGTCCCTGTCCCGGGAGGGACTTCACGCCCTTTCAGGTGGGGCTCACGAGGCTGAGGGGGGTGCCCAGCATTCATGTTTGTGGTCCCCTGTGACTGCTGGCAGAGGATGATCCCGCCCGGTCTGGCCACCCCCAGAGCTGGTGCCTGCCTCTGCGACCGCTGCCTGCCCCCAGAGCTTGGCAAGGAAGGAGCAACTGCCTTTCTGGTGACCGACTCGCTTCTGGTGGCCGGCCTCCCGTGCAGCTGCCCCTGCACCCGCCCACTGTGCCGGCCGCCCGCACCTCGCTTGCTGATATTCTCTCTCTCTCTCTTTCTGTCTGTGCCTCTTTCTGTGTGTTCTGTAGAGGACGTAGCAAATTTAACAGCCAGTGATGTCATGAATCGGGTAAACCTGGGATATTTGCAAGGTAATTCTGCCCTGGCGGGTGCCGACCACCGCACAACGGGGCTCGCCAACCCTTC | CCAGGTCAGCGGGGAAGCGGCAGCAGGAGGGTGGCGCCTGGGTGGGACCCCCGTCATGCCCTCAGCTCTTCAGCCTGGTCCCTGTTCTGAATGATAGGACTCCCTCTGAATGACCTTCCCTGGATTCCAAGGAGACCTCTGGGCCCTGTCCTTGCCCCAGGGATTTCTGGGCCCTTTTTGACCTATGGGTGCCTGGCAAGGGAGTTTTCTTAGAAAAGGCCTCCCAGAACTCTGCCTGTGGGTCATGTGGTGCTTGGGGACCTGGTGGTTCTGTGTGTGTGTATGCATGAGGGGTGGCGAGCCCGTGGCCGGTGGGGTATGGACCTGTGTCCCACGCCCGTGCCCGCGTGCCTCACTGTGGCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGGCCAGTCCTTCGTGAAGGACTACATGATCACCATCACCCGGCTGCTGCTGGGCCTGGACACCACGCCGGGCTCGGGGTACCTCTGTGCCGTAAGTGCCCCTGGCTGCGCTGGGCTGGGGGCGTGCTGGGCTGTCCAAGTGGGTGGATGGGCACCTGCCCCTGATTCACGGTGGCCAGGAGGCTCTGGGTGCTGCCACCTGCCCCAGCCAACTCAGGGTTCCCACCCTGCAGATGAAAATCACCGAGGGCGACCTGTGGATCCGCACGTACGGCCGCCTCTTCCAGAAGCTCTGCTCCTCCAGCGCCGAGATCCCCATTGGCATCTACCGGACAGAGAGCCACGTCTTCTCCACCTCGGAGGTTCTGGGGCAGCCTGGGGGCTGGGACTGTGGCAGCCCCTGTCCTGTGTGACCCACAGCATCCCCACCTTCCGGGGGCTGGGACTGTGGCAGCCCCTGTCCTGTGTGACCCACAGCATCCCCACCTTCAGTGTCAGGGACCTGGGCTAGATCAGCTTTGCTATTGCTGGCAGCTCCTTCCGTCTGGTCCGTGTGCCCACGTGTAGCGCTTCCAGCTGGAGCAGCCATGACCCCTACCGGGGGCAGAGAGGCTCAGGGGAGTCTTCAGGAAGAATACGGGCAGCCCCTGTGCTGCAGTCCACACAGCAGCAGGCACCGTGCCCACCAGCCCTAAGCATGTTCCGTGCAGACCCCAGGCTGAGGCGGCGTGGGGGGCAGGGGTGCGCCCACAGGTCCCAGACTGCGCCTGTTTCCTTTGCAGCCCCACGACCTCAGAGCCCAGGTAAGCAACCCCTCCGTGCCCACGCAGCTTCTGCGGAGCACCAGAACATCGCAGCTTCACATGGAGAAGCCTGCCAGGCCCCACCCACCCACCCACCCACAGGGCCCTGGGAAAGCCGAGGCAGGAGCGGGTCCCACGGATGTGTCGGCCCCAGCACGGCTCAGAGAAGGCTGTTGACACTCACTCCCTCCTGCACTGGTGGTGGGGAAGCTGAGGCCTGGGGGGAGTAGCCTGTGAGTTTGGACACCAGGTGCACCCCCGCCCCCTCCCAGGCCCCACCAAGGCAGGCAGCCCCCATGCCCATCTGGCCTGACCAGCCCCCAGCCTCCCAGGCCTTTCTGAAGGTGCCACCCAGGTGGGATGCCTACCTCTTCCCAGCACCCCACGACCCACAGGCTCTGGCACCCCACGTTCCCCAGGTTCGGGGCCTCCAAAGGGTGTGTTTGCAAGAGGGATCAGGGCTCATCTGCAGATGGAGAAATTGACACGCAGAGGGGGTGACCTCTCAGGGCAAGGCCAGGATGTGCTGGGGTCCAGATGGGTCCCAGGCCGGACCCACAGAAATAAGGGCTCAGAGAGGCGAAGGGAGCTGCCCTCAGCAGCCTGGCGAATCCCTTGACCAGGCCCGGGCAGGGTGGGTGGCCCGGCGATCTGTGCTCAGGAGGAAACCAGGCACATTCTTTCCAGAGGAGGAAGGCACATGCACCCTGGGGTCTGTCGTCGTCCTCTTCCCTAACACCCCCAGCTGCTCCCACGCAGGCCCCAAGCTGCAGAGCCCACACCTCTTCCTAAGCCCCTGCCCCAAAGCCCGCGACCCTCCCGGCAGCCTCACCCCTCCCCGCCCTGCCCTGCCCTGCCCTGCCCTGCCCTGCCCAGTCCCAGATCTCGGTGAACGTGGAGGACTGTGAGGACACACGGGAAGTGAAGGGGCCCTGGGGCTCCCGCGCTGGCACCGGAGGCAGCTCCCAGGGCCGCCACACGGGCGGCGGTGACCCCGCAGAGCACCCACTGCTACGGCGCAAGAGCCTGCAGTGGGCCCGGAGGCTGAGCCGCAAGGCGCCCAAGCAGGCAGGCCGGGCGGCGGCCGCGGAGTGGATCAGCCAGCAGCGCCTCAGCCTGTACCGGCGCTCTGAGCGCCAGGAGCTCTCCGAGCTGGTGAAGAACCGCATGAAGCACCTGGGGCTGCCCACCACCGGCTACGGTAAGGGCACACGGCGCGGGTGGGGGCCGGACGGACGGACTGGGCCAGGGTCGGGCCACAGCCAAGAACAGTCGGCCACGGCGTCCCGGGGCCCGGGCCGTCCTCCTGTCTGTCATCTGTCTGTCTGTCAGCCTTTCTGGCCACCCTCTGCCTGCCTCTACTGTGGGGCCAGCTGTGGGCACCACCACGGCCCAGCAGAGGCCCCGTGCAGAGGAGGGAAGTGGCCATGGCCCACCCTGGTGCTGGGAGGCCACAGGACCCTTGGGCATCCCTGGTGTGAGCCCCGTAGGGAGGTGCTCGCTTCCACTGCTCTGGGGCCTCAGTTTCCCTCTCTGCCAAATTAGAGACAGGAGCTGGCTGAGCCCTTTGGCCAGGGGAGGCAGCTGTGGGGTGGAGAGGGCCAGGCTGGGCTCCCCAAGTCGAGGGCATCAGCTAGAGTTGGGCCAGCCAGCTGCAGCCAGGCCTGCTGGACAGCGGATACCCAGGGTCCCTGAGTTCTCGCAGAGAACAAGACTGGTGGGGACCCCCTCCCAGAGCCCCCAGCCCTCCCAGCAGCCAGGGTAGGGGGGAGACTTTGGGGGAACAGTTGGGGGAAAGGCCCATGCCAGGACATGCCTCTGTCCACCATGGGCCTGTTGCCACTCCCACGGCACAGCCCCCTCCTGCCGCTTCAGGGAGCCCGGCGTCCGTCTTCAGCAACAGATCCGTGCAGCCCCCTCTCTCTGCGCCTTGTGGTGGGAAGTGTGCTTGGGCTTCGGGGCCCTACATGCCCTGCCTGGCGTGGAGAGAAGCTCATCCCCTCCCTCACTCTAGAGATGCTACCTCCGTTGATGAAGCCATGGGCCCCAGCTCCCCAGCACCGGGCCGCTACCCAGTGACACCCACCCCTGAGCCGGGTCGAGGCTCCACCTTCCCTTTGTTCCATCTCAGGGACTTGCCTGATGCTCAGGGCTGCCTCTGTCCCGTCGGAGTGCCCCGTCTCCCAACCCTGCTTCCTGCGTCTGTCACCTGGGTCGGGGTCTTGAGTCCCCTGAGCAGAGTCAGGAGCTCACGGCTGGCCCAGGAGCTGCTCACGGGTGACTGGGCTGGGCTGGCCTGCGGGCCCGAAGGAGACTCAGAGGCCAGGGTTTGGGGAACAGGTGGCCTGTGAAGACCTTTCCCGGCCCCCAGCCCTGTGGGCGCTGGGGAAGGTGTCCCCCTGTCCCCGCCTTGAAGCTTCCCTCCATCCCCACAGTGTCCCTGTCCCGGGAGGGACTTCACGCCCTTTCAGGTGGGGCTCACGAGGCTGAGGGGGGTGCCCAGCATTCATGTTTGTGGTCCCCTGTGACTGCTGGCAGAGGATGATCCCGCCCGGTCTGGCCACCCCCAGAGCTGGTGCCTGCCTCTGCGACCGCTGCCTGCCCCCAGAGCTTGGCAAGGAAGGAGCAACTGCCTTTCTGGTGACCGACTCGCTTCTGGTGGCCGGCCTCCCGTGCAGCTGCCCCTGCACCCGCCCACTGTGCCGGCCGCCCGCACCTCGCTTGCTGATATTCTCTCTCTCTCTCTTTCTGTCTGTGCCTCTTTCTGTGTGTTCTGTAGAGGACGTAGCAAATTTAACAGCCAGTGATGTCATGAATCGGGTAAACCTGGGATATTTGCAAGGTAATTCTGCCCTGGCGGGTGCCGACCACCGCACAACGGGGCTCG | benign | 154,889 |
Evaluate the clinical significance of the mutation at chromosome 9, position 135786170 in gene KCNT1 (potassium sodium-activated channel subfamily T member 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | CCAGGTCAGCGGGGAAGCGGCAGCAGGAGGGTGGCGCCTGGGTGGGACCCCCGTCATGCCCTCAGCTCTTCAGCCTGGTCCCTGTTCTGAATGATAGGACTCCCTCTGAATGACCTTCCCTGGATTCCAAGGAGACCTCTGGGCCCTGTCCTTGCCCCAGGGATTTCTGGGCCCTTTTTGACCTATGGGTGCCTGGCAAGGGAGTTTTCTTAGAAAAGGCCTCCCAGAACTCTGCCTGTGGGTCATGTGGTGCTTGGGGACCTGGTGGTTCTGTGTGTGTGTATGCATGAGGGGTGGCGAGCCCGTGGCCGGTGGGGTATGGACCTGTGTCCCACGCCCGTGCCCGCGTGCCTCACTGTGGCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGGCCAGTCCTTCGTGAAGGACTACATGATCACCATCACCCGGCTGCTGCTGGGCCTGGACACCACGCCGGGCTCGGGGTACCTCTGTGCCGTAAGTGCCCCTGGCTGCGCTGGGCTGGGGGCGTGCTGGGCTGTCCAAGTGGGTGGATGGGCACCTGCCCCTGATTCACGGTGGCCAGGAGGCTCTGGGTGCTGCCACCTGCCCCAGCCAACTCAGGGTTCCCACCCTGCAGATGAAAATCACCGAGGGCGACCTGTGGATCCGCACGTACGGCCGCCTCTTCCAGAAGCTCTGCTCCTCCAGCGCCGAGATCCCCATTGGCATCTACCGGACAGAGAGCCACGTCTTCTCCACCTCGGAGGTTCTGGGGCAGCCTGGGGGCTGGGACTGTGGCAGCCCCTGTCCTGTGTGACCCACAGCATCCCCACCTTCCGGGGGCTGGGACTGTGGCAGCCCCTGTCCTGTGTGACCCACAGCATCCCCACCTTCAGTGTCAGGGACCTGGGCTAGATCAGCTTTGCTATTGCTGGCAGCTCCTTCCGTCTGGTCCGTGTGCCCACGTGTAGCGCTTCCAGCTGGAGCAGCCATGACCCCTACCGGGGGCAGAGAGGCTCAGGGGAGTCTTCAGGAAGAATACGGGCAGCCCCTGTGCTGCAGTCCACACAGCAGCAGGCACCGTGCCCACCAGCCCTAAGCATGTTCCGTGCAGACCCCAGGCTGAGGCGGCGTGGGGGGCAGGGGTGCGCCCACAGGTCCCAGACTGCGCCTGTTTCCTTTGCAGCCCCACGACCTCAGAGCCCAGGTAAGCAACCCCTCCGTGCCCACGCAGCTTCTGCGGAGCACCAGAACATCGCAGCTTCACATGGAGAAGCCTGCCAGGCCCCACCCACCCACCCACCCACAGGGCCCTGGGAAAGCCGAGGCAGGAGCGGGTCCCACGGATGTGTCGGCCCCAGCACGGCTCAGAGAAGGCTGTTGACACTCACTCCCTCCTGCACTGGTGGTGGGGAAGCTGAGGCCTGGGGGGAGTAGCCTGTGAGTTTGGACACCAGGTGCACCCCCGCCCCCTCCCAGGCCCCACCAAGGCAGGCAGCCCCCATGCCCATCTGGCCTGACCAGCCCCCAGCCTCCCAGGCCTTTCTGAAGGTGCCACCCAGGTGGGATGCCTACCTCTTCCCAGCACCCCACGACCCACAGGCTCTGGCACCCCACGTTCCCCAGGTTCGGGGCCTCCAAAGGGTGTGTTTGCAAGAGGGATCAGGGCTCATCTGCAGATGGAGAAATTGACACGCAGAGGGGGTGACCTCTCAGGGCAAGGCCAGGATGTGCTGGGGTCCAGATGGGTCCCAGGCCGGACCCACAGAAATAAGGGCTCAGAGAGGCGAAGGGAGCTGCCCTCAGCAGCCTGGCGAATCCCTTGACCAGGCCCGGGCAGGGTGGGTGGCCCGGCGATCTGTGCTCAGGAGGAAACCAGGCACATTCTTTCCAGAGGAGGAAGGCACATGCACCCTGGGGTCTGTCGTCGTCCTCTTCCCTAACACCCCCAGCTGCTCCCACGCAGGCCCCAAGCTGCAGAGCCCACACCTCTTCCTAAGCCCCTGCCCCAAAGCCCGCGACCCTCCCGGCAGCCTCACCCCTCCCCGCCCTGCCCTGCCCTGCCCTGCCCAGTCCCAGATCTCGGTGAACGTGGAGGACTGTGAGGACACACGGGAAGTGAAGGGGCCCTGGGGCTCCCGCGCTGGCACCGGAGGCAGCTCCCAGGGCCGCCACACGGGCGGCGGTGACCCCGCAGAGCACCCACTGCTACGGCGCAAGAGCCTGCAGTGGGCCCGGAGGCTGAGCCGCAAGGCGCCCAAGCAGGCAGGCCGGGCGGCGGCCGCGGAGTGGATCAGCCAGCAGCGCCTCAGCCTGTACCGGCGCTCTGAGCGCCAGGAGCTCTCCGAGCTGGTGAAGAACCGCATGAAGCACCTGGGGCTGCCCACCACCGGCTACGGTAAGGGCACACGGCGCGGGTGGGGGCCGGACGGACGGACTGGGCCAGGGTCGGGCCACAGCCAAGAACAGTCGGCCACGGCGTCCCGGGGCCCGGGCCGTCCTCCTGTCTGTCATCTGTCTGTCTGTCAGCCTTTCTGGCCACCCTCTGCCTGCCTCTACTGTGGGGCCAGCTGTGGGCACCACCACGGCCCAGCAGAGGCCCCGTGCAGAGGAGGGAAGTGGCCATGGCCCACCCTGGTGCTGGGAGGCCACAGGACCCTTGGGCATCCCTGGTGTGAGCCCCGTAGGGAGGTGCTCGCTTCCACTGCTCTGGGGCCTCAGTTTCCCTCTCTGCCAAATTAGAGACAGGAGCTGGCTGAGCCCTTTGGCCAGGGGAGGCAGCTGTGGGGTGGAGAGGGCCAGGCTGGGCTCCCCAAGTCGAGGGCATCAGCTAGAGTTGGGCCAGCCAGCTGCAGCCAGGCCTGCTGGACAGCGGATACCCAGGGTCCCTGAGTTCTCGCAGAGAACAAGACTGGTGGGGACCCCCTCCCAGAGCCCCCAGCCCTCCCAGCAGCCAGGGTAGGGGGGAGACTTTGGGGGAACAGTTGGGGGAAAGGCCCATGCCAGGACATGCCTCTGTCCACCATGGGCCTGTTGCCACTCCCACGGCACAGCCCCCTCCTGCCGCTTCAGGGAGCCCGGCGTCCGTCTTCAGCAACAGATCCGTGCAGCCCCCTCTCTCTGCGCCTTGTGGTGGGAAGTGTGCTTGGGCTTCGGGGCCCTACATGCCCTGCCTGGCGTGGAGAGAAGCTCATCCCCTCCCTCACTCTAGAGATGCTACCTCCGTTGATGAAGCCATGGGCCCCAGCTCCCCAGCACCGGGCCGCTACCCAGTGACACCCACCCCTGAGCCGGGTCGAGGCTCCACCTTCCCTTTGTTCCATCTCAGGGACTTGCCTGATGCTCAGGGCTGCCTCTGTCCCGTCGGAGTGCCCCGTCTCCCAACCCTGCTTCCTGCGTCTGTCACCTGGGTCGGGGTCTTGAGTCCCCTGAGCAGAGTCAGGAGCTCACGGCTGGCCCAGGAGCTGCTCACGGGTGACTGGGCTGGGCTGGCCTGCGGGCCCGAAGGAGACTCAGAGGCCAGGGTTTGGGGAACAGGTGGCCTGTGAAGACCTTTCCCGGCCCCCAGCCCTGTGGGCGCTGGGGAAGGTGTCCCCCTGTCCCCGCCTTGAAGCTTCCCTCCATCCCCACAGTGTCCCTGTCCCGGGAGGGACTTCACGCCCTTTCAGGTGGGGCTCACGAGGCTGAGGGGGGTGCCCAGCATTCATGTTTGTGGTCCCCTGTGACTGCTGGCAGAGGATGATCCCGCCCGGTCTGGCCACCCCCAGAGCTGGTGCCTGCCTCTGCGACCGCTGCCTGCCCCCAGAGCTTGGCAAGGAAGGAGCAACTGCCTTTCTGGTGACCGACTCGCTTCTGGTGGCCGGCCTCCCGTGCAGCTGCCCCTGCACCCGCCCACTGTGCCGGCCGCCCGCACCTCGCTTGCTGATATTCTCTCTCTCTCTCTTTCTGTCTGTGCCTCTTTCTGTGTGTTCTGTAGAGGACGTAGCAAATTTAACAGCCAGTGATGTCATGAATCGGGTAAACCTGGGATATTTGCAAGGTAATTCTGCCCTGGCGGGTGCCGACCACCGCACAACGGGGCTCGCCAACCCTTC | CCAGGTCAGCGGGGAAGCGGCAGCAGGAGGGTGGCGCCTGGGTGGGACCCCCGTCATGCCCTCAGCTCTTCAGCCTGGTCCCTGTTCTGAATGATAGGACTCCCTCTGAATGACCTTCCCTGGATTCCAAGGAGACCTCTGGGCCCTGTCCTTGCCCCAGGGATTTCTGGGCCCTTTTTGACCTATGGGTGCCTGGCAAGGGAGTTTTCTTAGAAAAGGCCTCCCAGAACTCTGCCTGTGGGTCATGTGGTGCTTGGGGACCTGGTGGTTCTGTGTGTGTGTATGCATGAGGGGTGGCGAGCCCGTGGCCGGTGGGGTATGGACCTGTGTCCCACGCCCGTGCCCGCGTGCCTCACTGTGGCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGGCCAGTCCTTCGTGAAGGACTACATGATCACCATCACCCGGCTGCTGCTGGGCCTGGACACCACGCCGGGCTCGGGGTACCTCTGTGCCGTAAGTGCCCCTGGCTGCGCTGGGCTGGGGGCGTGCTGGGCTGTCCAAGTGGGTGGATGGGCACCTGCCCCTGATTCACGGTGGCCAGGAGGCTCTGGGTGCTGCCACCTGCCCCAGCCAACTCAGGGTTCCCACCCTGCAGATGAAAATCACCGAGGGCGACCTGTGGATCCGCACGTACGGCCGCCTCTTCCAGAAGCTCTGCTCCTCCAGCGCCGAGATCCCCATTGGCATCTACCGGACAGAGAGCCACGTCTTCTCCACCTCGGAGGTTCTGGGGCAGCCTGGGGGCTGGGACTGTGGCAGCCCCTGTCCTGTGTGACCCACAGCATCCCCACCTTCCGGGGGCTGGGACTGTGGCAGCCCCTGTCCTGTGTGACCCACAGCATCCCCACCTTCAGTGTCAGGGACCTGGGCTAGATCAGCTTTGCTATTGCTGGCAGCTCCTTCCGTCTGGTCCGTGTGCCCACGTGTAGCGCTTCCAGCTGGAGCAGCCATGACCCCTACCGGGGGCAGAGAGGCTCAGGGGAGTCTTCAGGAAGAATACGGGCAGCCCCTGTGCTGCAGTCCACACAGCAGCAGGCACCGTGCCCACCAGCCCTAAGCATGTTCCGTGCAGACCCCAGGCTGAGGCGGCGTGGGGGGCAGGGGTGCGCCCACAGGTCCCAGACTGCGCCTGTTTCCTTTGCAGCCCCACGACCTCAGAGCCCAGGTAAGCAACCCCTCCGTGCCCACGCAGCTTCTGCGGAGCACCAGAACATCGCAGCTTCACATGGAGAAGCCTGCCAGGCCCCACCCACCCACCCACCCACAGGGCCCTGGGAAAGCCGAGGCAGGAGCGGGTCCCACGGATGTGTCGGCCCCAGCACGGCTCAGAGAAGGCTGTTGACACTCACTCCCTCCTGCACTGGTGGTGGGGAAGCTGAGGCCTGGGGGGAGTAGCCTGTGAGTTTGGACACCAGGTGCACCCCCGCCCCCTCCCAGGCCCCACCAAGGCAGGCAGCCCCCATGCCCATCTGGCCTGACCAGCCCCCAGCCTCCCAGGCCTTTCTGAAGGTGCCACCCAGGTGGGATGCCTACCTCTTCCCAGCACCCCACGACCCACAGGCTCTGGCACCCCACGTTCCCCAGGTTCGGGGCCTCCAAAGGGTGTGTTTGCAAGAGGGATCAGGGCTCATCTGCAGATGGAGAAATTGACACGCAGAGGGGGTGACCTCTCAGGGCAAGGCCAGGATGTGCTGGGGTCCAGATGGGTCCCAGGCCGGACCCACAGAAATAAGGGCTCAGAGAGGCGAAGGGAGCTGCCCTCAGCAGCCTGGCGAATCCCTTGACCAGGCCCGGGCAGGGTGGGTGGCCCGGCGATCTGTGCTCAGGAGGAAACCAGGCACATTCTTTCCAGAGGAGGAAGGCACATGCACCCTGGGGTCTGTCGTCGTCCTCTTCCCTAACACCCCCAGCTGCTCCCACGCAGGCCCCAAGCTGCAGAGCCCACACCTCTTCCTAAGCCCCTGCCCCAAAGCCCGCGACCCTCCCGGCAGCCTCACCCCTCCCCGCCCTGCCCTGCCCTGCCCAGTCCCAGATCTCGGTGAACGTGGAGGACTGTGAGGACACACGGGAAGTGAAGGGGCCCTGGGGCTCCCGCGCTGGCACCGGAGGCAGCTCCCAGGGCCGCCACACGGGCGGCGGTGACCCCGCAGAGCACCCACTGCTACGGCGCAAGAGCCTGCAGTGGGCCCGGAGGCTGAGCCGCAAGGCGCCCAAGCAGGCAGGCCGGGCGGCGGCCGCGGAGTGGATCAGCCAGCAGCGCCTCAGCCTGTACCGGCGCTCTGAGCGCCAGGAGCTCTCCGAGCTGGTGAAGAACCGCATGAAGCACCTGGGGCTGCCCACCACCGGCTACGGTAAGGGCACACGGCGCGGGTGGGGGCCGGACGGACGGACTGGGCCAGGGTCGGGCCACAGCCAAGAACAGTCGGCCACGGCGTCCCGGGGCCCGGGCCGTCCTCCTGTCTGTCATCTGTCTGTCTGTCAGCCTTTCTGGCCACCCTCTGCCTGCCTCTACTGTGGGGCCAGCTGTGGGCACCACCACGGCCCAGCAGAGGCCCCGTGCAGAGGAGGGAAGTGGCCATGGCCCACCCTGGTGCTGGGAGGCCACAGGACCCTTGGGCATCCCTGGTGTGAGCCCCGTAGGGAGGTGCTCGCTTCCACTGCTCTGGGGCCTCAGTTTCCCTCTCTGCCAAATTAGAGACAGGAGCTGGCTGAGCCCTTTGGCCAGGGGAGGCAGCTGTGGGGTGGAGAGGGCCAGGCTGGGCTCCCCAAGTCGAGGGCATCAGCTAGAGTTGGGCCAGCCAGCTGCAGCCAGGCCTGCTGGACAGCGGATACCCAGGGTCCCTGAGTTCTCGCAGAGAACAAGACTGGTGGGGACCCCCTCCCAGAGCCCCCAGCCCTCCCAGCAGCCAGGGTAGGGGGGAGACTTTGGGGGAACAGTTGGGGGAAAGGCCCATGCCAGGACATGCCTCTGTCCACCATGGGCCTGTTGCCACTCCCACGGCACAGCCCCCTCCTGCCGCTTCAGGGAGCCCGGCGTCCGTCTTCAGCAACAGATCCGTGCAGCCCCCTCTCTCTGCGCCTTGTGGTGGGAAGTGTGCTTGGGCTTCGGGGCCCTACATGCCCTGCCTGGCGTGGAGAGAAGCTCATCCCCTCCCTCACTCTAGAGATGCTACCTCCGTTGATGAAGCCATGGGCCCCAGCTCCCCAGCACCGGGCCGCTACCCAGTGACACCCACCCCTGAGCCGGGTCGAGGCTCCACCTTCCCTTTGTTCCATCTCAGGGACTTGCCTGATGCTCAGGGCTGCCTCTGTCCCGTCGGAGTGCCCCGTCTCCCAACCCTGCTTCCTGCGTCTGTCACCTGGGTCGGGGTCTTGAGTCCCCTGAGCAGAGTCAGGAGCTCACGGCTGGCCCAGGAGCTGCTCACGGGTGACTGGGCTGGGCTGGCCTGCGGGCCCGAAGGAGACTCAGAGGCCAGGGTTTGGGGAACAGGTGGCCTGTGAAGACCTTTCCCGGCCCCCAGCCCTGTGGGCGCTGGGGAAGGTGTCCCCCTGTCCCCGCCTTGAAGCTTCCCTCCATCCCCACAGTGTCCCTGTCCCGGGAGGGACTTCACGCCCTTTCAGGTGGGGCTCACGAGGCTGAGGGGGGTGCCCAGCATTCATGTTTGTGGTCCCCTGTGACTGCTGGCAGAGGATGATCCCGCCCGGTCTGGCCACCCCCAGAGCTGGTGCCTGCCTCTGCGACCGCTGCCTGCCCCCAGAGCTTGGCAAGGAAGGAGCAACTGCCTTTCTGGTGACCGACTCGCTTCTGGTGGCCGGCCTCCCGTGCAGCTGCCCCTGCACCCGCCCACTGTGCCGGCCGCCCGCACCTCGCTTGCTGATATTCTCTCTCTCTCTCTTTCTGTCTGTGCCTCTTTCTGTGTGTTCTGTAGAGGACGTAGCAAATTTAACAGCCAGTGATGTCATGAATCGGGTAAACCTGGGATATTTGCAAGGTAATTCTGCCCTGGCGGGTGCCGACCACCGCACAACGGGGCTCGCCAACCCTTCNNNNN | benign | 154,890 |
Does the variant impacting KCNT1 (potassium sodium-activated channel subfamily T member 1) on chromosome 9, position 135786170, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | CCAGGTCAGCGGGGAAGCGGCAGCAGGAGGGTGGCGCCTGGGTGGGACCCCCGTCATGCCCTCAGCTCTTCAGCCTGGTCCCTGTTCTGAATGATAGGACTCCCTCTGAATGACCTTCCCTGGATTCCAAGGAGACCTCTGGGCCCTGTCCTTGCCCCAGGGATTTCTGGGCCCTTTTTGACCTATGGGTGCCTGGCAAGGGAGTTTTCTTAGAAAAGGCCTCCCAGAACTCTGCCTGTGGGTCATGTGGTGCTTGGGGACCTGGTGGTTCTGTGTGTGTGTATGCATGAGGGGTGGCGAGCCCGTGGCCGGTGGGGTATGGACCTGTGTCCCACGCCCGTGCCCGCGTGCCTCACTGTGGCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGGCCAGTCCTTCGTGAAGGACTACATGATCACCATCACCCGGCTGCTGCTGGGCCTGGACACCACGCCGGGCTCGGGGTACCTCTGTGCCGTAAGTGCCCCTGGCTGCGCTGGGCTGGGGGCGTGCTGGGCTGTCCAAGTGGGTGGATGGGCACCTGCCCCTGATTCACGGTGGCCAGGAGGCTCTGGGTGCTGCCACCTGCCCCAGCCAACTCAGGGTTCCCACCCTGCAGATGAAAATCACCGAGGGCGACCTGTGGATCCGCACGTACGGCCGCCTCTTCCAGAAGCTCTGCTCCTCCAGCGCCGAGATCCCCATTGGCATCTACCGGACAGAGAGCCACGTCTTCTCCACCTCGGAGGTTCTGGGGCAGCCTGGGGGCTGGGACTGTGGCAGCCCCTGTCCTGTGTGACCCACAGCATCCCCACCTTCCGGGGGCTGGGACTGTGGCAGCCCCTGTCCTGTGTGACCCACAGCATCCCCACCTTCAGTGTCAGGGACCTGGGCTAGATCAGCTTTGCTATTGCTGGCAGCTCCTTCCGTCTGGTCCGTGTGCCCACGTGTAGCGCTTCCAGCTGGAGCAGCCATGACCCCTACCGGGGGCAGAGAGGCTCAGGGGAGTCTTCAGGAAGAATACGGGCAGCCCCTGTGCTGCAGTCCACACAGCAGCAGGCACCGTGCCCACCAGCCCTAAGCATGTTCCGTGCAGACCCCAGGCTGAGGCGGCGTGGGGGGCAGGGGTGCGCCCACAGGTCCCAGACTGCGCCTGTTTCCTTTGCAGCCCCACGACCTCAGAGCCCAGGTAAGCAACCCCTCCGTGCCCACGCAGCTTCTGCGGAGCACCAGAACATCGCAGCTTCACATGGAGAAGCCTGCCAGGCCCCACCCACCCACCCACCCACAGGGCCCTGGGAAAGCCGAGGCAGGAGCGGGTCCCACGGATGTGTCGGCCCCAGCACGGCTCAGAGAAGGCTGTTGACACTCACTCCCTCCTGCACTGGTGGTGGGGAAGCTGAGGCCTGGGGGGAGTAGCCTGTGAGTTTGGACACCAGGTGCACCCCCGCCCCCTCCCAGGCCCCACCAAGGCAGGCAGCCCCCATGCCCATCTGGCCTGACCAGCCCCCAGCCTCCCAGGCCTTTCTGAAGGTGCCACCCAGGTGGGATGCCTACCTCTTCCCAGCACCCCACGACCCACAGGCTCTGGCACCCCACGTTCCCCAGGTTCGGGGCCTCCAAAGGGTGTGTTTGCAAGAGGGATCAGGGCTCATCTGCAGATGGAGAAATTGACACGCAGAGGGGGTGACCTCTCAGGGCAAGGCCAGGATGTGCTGGGGTCCAGATGGGTCCCAGGCCGGACCCACAGAAATAAGGGCTCAGAGAGGCGAAGGGAGCTGCCCTCAGCAGCCTGGCGAATCCCTTGACCAGGCCCGGGCAGGGTGGGTGGCCCGGCGATCTGTGCTCAGGAGGAAACCAGGCACATTCTTTCCAGAGGAGGAAGGCACATGCACCCTGGGGTCTGTCGTCGTCCTCTTCCCTAACACCCCCAGCTGCTCCCACGCAGGCCCCAAGCTGCAGAGCCCACACCTCTTCCTAAGCCCCTGCCCCAAAGCCCGCGACCCTCCCGGCAGCCTCACCCCTCCCCGCCCTGCCCTGCCCTGCCCTGCCCAGTCCCAGATCTCGGTGAACGTGGAGGACTGTGAGGACACACGGGAAGTGAAGGGGCCCTGGGGCTCCCGCGCTGGCACCGGAGGCAGCTCCCAGGGCCGCCACACGGGCGGCGGTGACCCCGCAGAGCACCCACTGCTACGGCGCAAGAGCCTGCAGTGGGCCCGGAGGCTGAGCCGCAAGGCGCCCAAGCAGGCAGGCCGGGCGGCGGCCGCGGAGTGGATCAGCCAGCAGCGCCTCAGCCTGTACCGGCGCTCTGAGCGCCAGGAGCTCTCCGAGCTGGTGAAGAACCGCATGAAGCACCTGGGGCTGCCCACCACCGGCTACGGTAAGGGCACACGGCGCGGGTGGGGGCCGGACGGACGGACTGGGCCAGGGTCGGGCCACAGCCAAGAACAGTCGGCCACGGCGTCCCGGGGCCCGGGCCGTCCTCCTGTCTGTCATCTGTCTGTCTGTCAGCCTTTCTGGCCACCCTCTGCCTGCCTCTACTGTGGGGCCAGCTGTGGGCACCACCACGGCCCAGCAGAGGCCCCGTGCAGAGGAGGGAAGTGGCCATGGCCCACCCTGGTGCTGGGAGGCCACAGGACCCTTGGGCATCCCTGGTGTGAGCCCCGTAGGGAGGTGCTCGCTTCCACTGCTCTGGGGCCTCAGTTTCCCTCTCTGCCAAATTAGAGACAGGAGCTGGCTGAGCCCTTTGGCCAGGGGAGGCAGCTGTGGGGTGGAGAGGGCCAGGCTGGGCTCCCCAAGTCGAGGGCATCAGCTAGAGTTGGGCCAGCCAGCTGCAGCCAGGCCTGCTGGACAGCGGATACCCAGGGTCCCTGAGTTCTCGCAGAGAACAAGACTGGTGGGGACCCCCTCCCAGAGCCCCCAGCCCTCCCAGCAGCCAGGGTAGGGGGGAGACTTTGGGGGAACAGTTGGGGGAAAGGCCCATGCCAGGACATGCCTCTGTCCACCATGGGCCTGTTGCCACTCCCACGGCACAGCCCCCTCCTGCCGCTTCAGGGAGCCCGGCGTCCGTCTTCAGCAACAGATCCGTGCAGCCCCCTCTCTCTGCGCCTTGTGGTGGGAAGTGTGCTTGGGCTTCGGGGCCCTACATGCCCTGCCTGGCGTGGAGAGAAGCTCATCCCCTCCCTCACTCTAGAGATGCTACCTCCGTTGATGAAGCCATGGGCCCCAGCTCCCCAGCACCGGGCCGCTACCCAGTGACACCCACCCCTGAGCCGGGTCGAGGCTCCACCTTCCCTTTGTTCCATCTCAGGGACTTGCCTGATGCTCAGGGCTGCCTCTGTCCCGTCGGAGTGCCCCGTCTCCCAACCCTGCTTCCTGCGTCTGTCACCTGGGTCGGGGTCTTGAGTCCCCTGAGCAGAGTCAGGAGCTCACGGCTGGCCCAGGAGCTGCTCACGGGTGACTGGGCTGGGCTGGCCTGCGGGCCCGAAGGAGACTCAGAGGCCAGGGTTTGGGGAACAGGTGGCCTGTGAAGACCTTTCCCGGCCCCCAGCCCTGTGGGCGCTGGGGAAGGTGTCCCCCTGTCCCCGCCTTGAAGCTTCCCTCCATCCCCACAGTGTCCCTGTCCCGGGAGGGACTTCACGCCCTTTCAGGTGGGGCTCACGAGGCTGAGGGGGGTGCCCAGCATTCATGTTTGTGGTCCCCTGTGACTGCTGGCAGAGGATGATCCCGCCCGGTCTGGCCACCCCCAGAGCTGGTGCCTGCCTCTGCGACCGCTGCCTGCCCCCAGAGCTTGGCAAGGAAGGAGCAACTGCCTTTCTGGTGACCGACTCGCTTCTGGTGGCCGGCCTCCCGTGCAGCTGCCCCTGCACCCGCCCACTGTGCCGGCCGCCCGCACCTCGCTTGCTGATATTCTCTCTCTCTCTCTTTCTGTCTGTGCCTCTTTCTGTGTGTTCTGTAGAGGACGTAGCAAATTTAACAGCCAGTGATGTCATGAATCGGGTAAACCTGGGATATTTGCAAGGTAATTCTGCCCTGGCGGGTGCCGACCACCGCACAACGGGGCTCGCCAACCCTTC | CCAGGTCAGCGGGGAAGCGGCAGCAGGAGGGTGGCGCCTGGGTGGGACCCCCGTCATGCCCTCAGCTCTTCAGCCTGGTCCCTGTTCTGAATGATAGGACTCCCTCTGAATGACCTTCCCTGGATTCCAAGGAGACCTCTGGGCCCTGTCCTTGCCCCAGGGATTTCTGGGCCCTTTTTGACCTATGGGTGCCTGGCAAGGGAGTTTTCTTAGAAAAGGCCTCCCAGAACTCTGCCTGTGGGTCATGTGGTGCTTGGGGACCTGGTGGTTCTGTGTGTGTGTATGCATGAGGGGTGGCGAGCCCGTGGCCGGTGGGGTATGGACCTGTGTCCCACGCCCGTGCCCGCGTGCCTCACTGTGGCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGGCCAGTCCTTCGTGAAGGACTACATGATCACCATCACCCGGCTGCTGCTGGGCCTGGACACCACGCCGGGCTCGGGGTACCTCTGTGCCGTAAGTGCCCCTGGCTGCGCTGGGCTGGGGGCGTGCTGGGCTGTCCAAGTGGGTGGATGGGCACCTGCCCCTGATTCACGGTGGCCAGGAGGCTCTGGGTGCTGCCACCTGCCCCAGCCAACTCAGGGTTCCCACCCTGCAGATGAAAATCACCGAGGGCGACCTGTGGATCCGCACGTACGGCCGCCTCTTCCAGAAGCTCTGCTCCTCCAGCGCCGAGATCCCCATTGGCATCTACCGGACAGAGAGCCACGTCTTCTCCACCTCGGAGGTTCTGGGGCAGCCTGGGGGCTGGGACTGTGGCAGCCCCTGTCCTGTGTGACCCACAGCATCCCCACCTTCCGGGGGCTGGGACTGTGGCAGCCCCTGTCCTGTGTGACCCACAGCATCCCCACCTTCAGTGTCAGGGACCTGGGCTAGATCAGCTTTGCTATTGCTGGCAGCTCCTTCCGTCTGGTCCGTGTGCCCACGTGTAGCGCTTCCAGCTGGAGCAGCCATGACCCCTACCGGGGGCAGAGAGGCTCAGGGGAGTCTTCAGGAAGAATACGGGCAGCCCCTGTGCTGCAGTCCACACAGCAGCAGGCACCGTGCCCACCAGCCCTAAGCATGTTCCGTGCAGACCCCAGGCTGAGGCGGCGTGGGGGGCAGGGGTGCGCCCACAGGTCCCAGACTGCGCCTGTTTCCTTTGCAGCCCCACGACCTCAGAGCCCAGGTAAGCAACCCCTCCGTGCCCACGCAGCTTCTGCGGAGCACCAGAACATCGCAGCTTCACATGGAGAAGCCTGCCAGGCCCCACCCACCCACCCACCCACAGGGCCCTGGGAAAGCCGAGGCAGGAGCGGGTCCCACGGATGTGTCGGCCCCAGCACGGCTCAGAGAAGGCTGTTGACACTCACTCCCTCCTGCACTGGTGGTGGGGAAGCTGAGGCCTGGGGGGAGTAGCCTGTGAGTTTGGACACCAGGTGCACCCCCGCCCCCTCCCAGGCCCCACCAAGGCAGGCAGCCCCCATGCCCATCTGGCCTGACCAGCCCCCAGCCTCCCAGGCCTTTCTGAAGGTGCCACCCAGGTGGGATGCCTACCTCTTCCCAGCACCCCACGACCCACAGGCTCTGGCACCCCACGTTCCCCAGGTTCGGGGCCTCCAAAGGGTGTGTTTGCAAGAGGGATCAGGGCTCATCTGCAGATGGAGAAATTGACACGCAGAGGGGGTGACCTCTCAGGGCAAGGCCAGGATGTGCTGGGGTCCAGATGGGTCCCAGGCCGGACCCACAGAAATAAGGGCTCAGAGAGGCGAAGGGAGCTGCCCTCAGCAGCCTGGCGAATCCCTTGACCAGGCCCGGGCAGGGTGGGTGGCCCGGCGATCTGTGCTCAGGAGGAAACCAGGCACATTCTTTCCAGAGGAGGAAGGCACATGCACCCTGGGGTCTGTCGTCGTCCTCTTCCCTAACACCCCCAGCTGCTCCCACGCAGGCCCCAAGCTGCAGAGCCCACACCTCTTCCTAAGCCCCTGCCCCAAAGCCCGCGACCCTCCCGGCAGCCTCACCCCTCCCCGCCCTGCCCTGCCCAGTCCCAGATCTCGGTGAACGTGGAGGACTGTGAGGACACACGGGAAGTGAAGGGGCCCTGGGGCTCCCGCGCTGGCACCGGAGGCAGCTCCCAGGGCCGCCACACGGGCGGCGGTGACCCCGCAGAGCACCCACTGCTACGGCGCAAGAGCCTGCAGTGGGCCCGGAGGCTGAGCCGCAAGGCGCCCAAGCAGGCAGGCCGGGCGGCGGCCGCGGAGTGGATCAGCCAGCAGCGCCTCAGCCTGTACCGGCGCTCTGAGCGCCAGGAGCTCTCCGAGCTGGTGAAGAACCGCATGAAGCACCTGGGGCTGCCCACCACCGGCTACGGTAAGGGCACACGGCGCGGGTGGGGGCCGGACGGACGGACTGGGCCAGGGTCGGGCCACAGCCAAGAACAGTCGGCCACGGCGTCCCGGGGCCCGGGCCGTCCTCCTGTCTGTCATCTGTCTGTCTGTCAGCCTTTCTGGCCACCCTCTGCCTGCCTCTACTGTGGGGCCAGCTGTGGGCACCACCACGGCCCAGCAGAGGCCCCGTGCAGAGGAGGGAAGTGGCCATGGCCCACCCTGGTGCTGGGAGGCCACAGGACCCTTGGGCATCCCTGGTGTGAGCCCCGTAGGGAGGTGCTCGCTTCCACTGCTCTGGGGCCTCAGTTTCCCTCTCTGCCAAATTAGAGACAGGAGCTGGCTGAGCCCTTTGGCCAGGGGAGGCAGCTGTGGGGTGGAGAGGGCCAGGCTGGGCTCCCCAAGTCGAGGGCATCAGCTAGAGTTGGGCCAGCCAGCTGCAGCCAGGCCTGCTGGACAGCGGATACCCAGGGTCCCTGAGTTCTCGCAGAGAACAAGACTGGTGGGGACCCCCTCCCAGAGCCCCCAGCCCTCCCAGCAGCCAGGGTAGGGGGGAGACTTTGGGGGAACAGTTGGGGGAAAGGCCCATGCCAGGACATGCCTCTGTCCACCATGGGCCTGTTGCCACTCCCACGGCACAGCCCCCTCCTGCCGCTTCAGGGAGCCCGGCGTCCGTCTTCAGCAACAGATCCGTGCAGCCCCCTCTCTCTGCGCCTTGTGGTGGGAAGTGTGCTTGGGCTTCGGGGCCCTACATGCCCTGCCTGGCGTGGAGAGAAGCTCATCCCCTCCCTCACTCTAGAGATGCTACCTCCGTTGATGAAGCCATGGGCCCCAGCTCCCCAGCACCGGGCCGCTACCCAGTGACACCCACCCCTGAGCCGGGTCGAGGCTCCACCTTCCCTTTGTTCCATCTCAGGGACTTGCCTGATGCTCAGGGCTGCCTCTGTCCCGTCGGAGTGCCCCGTCTCCCAACCCTGCTTCCTGCGTCTGTCACCTGGGTCGGGGTCTTGAGTCCCCTGAGCAGAGTCAGGAGCTCACGGCTGGCCCAGGAGCTGCTCACGGGTGACTGGGCTGGGCTGGCCTGCGGGCCCGAAGGAGACTCAGAGGCCAGGGTTTGGGGAACAGGTGGCCTGTGAAGACCTTTCCCGGCCCCCAGCCCTGTGGGCGCTGGGGAAGGTGTCCCCCTGTCCCCGCCTTGAAGCTTCCCTCCATCCCCACAGTGTCCCTGTCCCGGGAGGGACTTCACGCCCTTTCAGGTGGGGCTCACGAGGCTGAGGGGGGTGCCCAGCATTCATGTTTGTGGTCCCCTGTGACTGCTGGCAGAGGATGATCCCGCCCGGTCTGGCCACCCCCAGAGCTGGTGCCTGCCTCTGCGACCGCTGCCTGCCCCCAGAGCTTGGCAAGGAAGGAGCAACTGCCTTTCTGGTGACCGACTCGCTTCTGGTGGCCGGCCTCCCGTGCAGCTGCCCCTGCACCCGCCCACTGTGCCGGCCGCCCGCACCTCGCTTGCTGATATTCTCTCTCTCTCTCTTTCTGTCTGTGCCTCTTTCTGTGTGTTCTGTAGAGGACGTAGCAAATTTAACAGCCAGTGATGTCATGAATCGGGTAAACCTGGGATATTTGCAAGGTAATTCTGCCCTGGCGGGTGCCGACCACCGCACAACGGGGCTCGCCAACCCTTCNNNNNNNNNN | benign | 154,891 |
Regarding the variant at chromosome 9 and position 136197220, affecting gene LHX3 (LIM homeobox 3): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | GGCAAGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGTGGTGAGCGGAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATTTAAAAAAAAACCACACAACTGGTCCCAACCAGTTCCCCCCAAAAGATGGCTGGTCCTGGAGAGACTTGGAAGTCTGCAGCTCAGAGCAGCTTCCCTTGGCCACATTCTGGAGGGGCCTCCGCACCCTTACTGGGGGAACTGAGGCCAGTGCAAAGGTCCCCATGAAAGGCATGGGGACTCCTCCACCTTCCCTCCCCGTCCACTGAGAAATAGGGAGCCCAGGCTCCAAGGGGCCTCCTCCCTCCAGCCCCCACTCTGCTCCAGGGAGACCCCCTCAGAGGAAGAGACCCTCAGGGAGGAGGCCCAGCCCTCCTTCCTGCAGGAGGGAAGGCCGAGGTGGAAGGGCCAACCCTGCCTGCTTCTACCACTGCCCCTATAGGAGCACTTACCTGGGGGTGGGGGTGGGGCGCATACAACTTCTTTCTGCCCTCTGAGGGGACTGTCATCACTGTCTTCTCTTTACGGCGGCGGCGGGGTTGGGGGGGTTGGGGGGTGGGGACGGGGAAGCAGGGCTCAGAGGGTTCCAGCCCCCAGCCCAGGGTCACACAGCAAGTTAGAAGAGCCAGGATTGGAATCCAAGCTGGAGAGACTTCCATGACCATGAGCCTGGTCACCCTACCAGCCTATGTCCTGGGGTTGGTGCCAGCTGCAAGCTGTGAATGGCACACACGGCCCACCTCCCACCCCCATCATGCTCTCTGGACATCCCAACCCCTGCCTCTCCCAGGGACAGGGTGTGGAGACCGCAACCCCTCCCCTCCATCAGGAAGGGATGGGCTGTTCCCCCCACCTCCTTCCAGTGCTCATGAGCATGGCCAAGATCCAGGGATAAAGAGAGCCCAAATTCATACTAGGTGCCAGCCCAAGCAACGAACTAGGGGGACTCAGGGCCCCTCCAGGGCTGCCTCTCAACATTCACAGAATGTTCCCCACACCCAACACTCCCCAACCCCCGCAGCCTCAAAAAAACGCGGGCCTTCCATTGACTGTAACTGACAAATTTATTGAAGTCTTGGAAAGAGCTGATCACCCGAGAATAAATAAAAGACACAGAACATTCACAGAACCAATAGGTAGCTCGAGATTCAGGTTTGCGGGAGTGACTTTGACTTACACACAGGCCAGCCTTTGTGTCTGGGGCACGCACAGCTGCGGGCATCTCCCAGAAACTTCTTCCCAAAGGATCTGATGGAGGAGGCAGGGCAGGCTCAGAGGAGCCCCACCCTTCTCCAGCGGGGAGACTTCCCAATCTGGGGCTGGCAGAGCCGGCTCCGGCAGGGAGGGCAGGCTGTTTGGCAACAGACATCTGTGGGTGCAGCCTGGACACCAAGGGCCTGGGGTGGGGTGAGGAGGAGACCCTGAGGGGCTTAGAGAATTGAGCTTGGAGAGAAGGGGCGCCAGGCATTTTTGCCTCCTCCACAGGATACTCGAGAACAGAATGATCTAGAGACCTGGGGATTGGGGAAAGCTTCTCCCGGGGAAGGTGGGGCTGGAGGCAGAGAGGCCCCCTGTGGTCTGGGGAGAGGAGGGGGCCTCTCCCGGAGGACACAGGTGTGTCCCCGCCTCTGCAGCCTCTTGCCTCGACAGGCAAGGCCAATCTCCGACCTAAAGAGGGAGCCTCGGGGTGACGGCTCCAAGACACATGGAGCCTGGGAAGTGAAAGCACAATTATGATGATTTCTCAGTTTTAGAGATGAAAGCGTTTTTCCAGCCCTCGGGCTATGCTGGGCTGGGCTGGGCCTCAGCAAGGTGACATTTCATGTCTAGAAATAGCAGCAAGTGCTCAGTTAATTGGTCAATAAAGGGGAGAAATTTGCTTACAAAAAAGGCTGGCTTGCTGGGAGGCCACCTGGCGGGCCAGCCCTGTGTCAGAGGAGGGGCCAGGTGGGTCCCTCAGCCCCCAGAGAGGGAGCTGTGCGGTCGGCAGTGGGAGGCTCCGAAGGCACCAGCCCTCCCTTGACGCCCTGGCCCCACTTCCTCGGAAACCCCAGCAGCCCCGAGCCGCCCACCCAGGGGCAGCTCCCTCGTGTGAGGTGCAGGGTGGAGCCGGGCCTGGGTCAGAACTGAGCGTGGTCTACCTCATCCAGCCAGGAGGCGGGGCTGGCAGGGAAGTCGGGGTAACCCCCGCTGCTCCCCGTGGATAGGTCAGAACTGGGTCCGTTCCCTGCCAGCACCCTCATGGGTGGGGGCCCGCCGGGGGCTCCCGAGGGCACAAGGCCCAAGCTGGTGTCTGGGTACACCAGGCTGGAGAGGAGGGGCTGGGGGCCAGGGAGGCTCTGCGGGGCGGCGGGGGATGGGGGGACACCGTAGGGGCTGCCGGGACGCAGCTCTCGGTACTGCTCTGGGCCTGCCAGGCCTCCATGCTCCAGGGAGAAGTTGCCCAGGGCTCCCGAGGGCCGGCCCAAGGCCTGGGTGGGTTCCCCCAAGCTCCCGTAGAGGCCATTGGCCGGGCCCATTTCCGCCAAGGAAGGCTCATCTGCAACAGAAGCAGAGGCTCAGTCAGCGCCTGCCCTCCACCTGCGGCCCCTCAGAGTCCCATCCTGCAGGCGGAGGCACCCCTGGGTCGGAGAAAGAGTGGCTGCCCCACACCACATGACAGGTCATAACAGGCCCCTTCTACTGTTGGAGCATGGCTGCCCCTGCCCCTCCACTGCCCTCACCCCTGAGTCAGCCCAGGTGTCTCAGGCCTGGTGGGATCAGAGTCAGGAACAGCCCAGCCAGGGCCCAGGCTTTCAGGACCAGCCCCACAGCAGCCTAGGAAGGGGGCACAGATACCACCACCCACATTTTGCAGACAAGGATATTTAGTTCCAGAGTGGCTGAGTGAGTAGCCCGGGTCACGAGGCAGCCCAAAAGAGAGTGTCTTGTCCACATTCTGAGGATGGGCATCAACAGATGGGGACGCAGCATCCCCGGTGCCCGGAGAATGAAATAAATAATCCAGGCCCCACAGAAGGGTATGGAACCTTCTCTCCCTGACCCCAGGTAGCCCCCTCCCCCAACTCCAAGCAGCTGGGACTTCGACTCAGTCTTTCCCGAAATGCACTGCCCATTCTCCTAAAAATCACTGCAAGGGCTAGGAGCCAGAGAGACGGCCTGGACACGCCCACCCCCCCATGAGAAAGCCCGTAGGCGCCCAGCTTGGGGACAGGTCGGGCCACAGGGATTGTGTCCCCACCAGGGGAAAAGCAGTGGTCCGGAGTGGCCACCCAGGGCGGGGAGGGTGCTGGGGGAGCAGGTTCTGTAAGTGAAATGCTTTTGAAAGTAGAACTTAAGGAGTCCACTAACTCCATGGGAAATTCAGATCCGCGGGCTCCCTGGGACCCCTGCGACCCCGCCGACGCGCGCTCGTCCCCCCCCGAGCTCCGCGATCCCTCCGCCTACCGGGGAAGGAGACCTCAGCGTCGCTGTCCTGCCCCTCCTGAACGCTGTCCTTGTCCGACTTGGAGCCGCCGCGGGAGCGCTTCATGTTGCGGAAATACTGCCCCCAGCGCTGCCGGCCGGCGTCCTTCTTCAGCCTCTTCTCCTTGGCCCGGCGGTTCTGGAACCAAACCTGGGGGCGGGGCGGGGTGAGCGGCCGCCCGGCTCTGCGGGGGCCCCCAAGGCCGCGGGCGGGAGGGAAGCAGGGGCGAGCGCTGACCTGCACCACGCGCATGTCCAGGCCCGTCTCGGACGAGAGCTGCTCGCGCACGTGGCGCGCCGGCTTGGGCGAGGTGTTGTAAGCGCTCTTCAGCGTCTCCAGCTGCTTGGCGGTGATGGTCGTGCGCGGCCGCTTGGCCGTGGCCTCGGCCTCTGCGCGGCGGGCGAGCGGTGAGGCGCGGCAGCCCCTCCGGCCCCGGCCGGACCCCCAGCCCTCCCACCCCGGCCGGCGCGGGGACGTCGGGGCCTCAGGTGCCCACCCCCATCCCGCCCCACAGGCTTCTCGGAAGGCGCGGGCGCTGGGAGCGATTGGCAAAAACGGGCAGCACCCGGGCTGGGGTGGAGGGGGCGCCGGCGGAGG | GGCAAGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGTGGTGAGCGGAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATTTAAAAAAAAACCACACAACTGGTCCCAACCAGTTCCCCCCAAAAGATGGCTGGTCCTGGAGAGACTTGGAAGTCTGCAGCTCAGAGCAGCTTCCCTTGGCCACATTCTGGAGGGGCCTCCGCACCCTTACTGGGGGAACTGAGGCCAGTGCAAAGGTCCCCATGAAAGGCATGGGGACTCCTCCACCTTCCCTCCCCGTCCACTGAGAAATAGGGAGCCCAGGCTCCAAGGGGCCTCCTCCCTCCAGCCCCCACTCTGCTCCAGGGAGACCCCCTCAGAGGAAGAGACCCTCAGGGAGGAGGCCCAGCCCTCCTTCCTGCAGGAGGGAAGGCCGAGGTGGAAGGGCCAACCCTGCCTGCTTCTACCACTGCCCCTATAGGAGCACTTACCTGGGGGTGGGGGTGGGGCGCATACAACTTCTTTCTGCCCTCTGAGGGGACTGTCATCACTGTCTTCTCTTTACGGCGGCGGCGGGGTTGGGGGGGTTGGGGGGTGGGGACGGGGAAGCAGGGCTCAGAGGGTTCCAGCCCCCAGCCCAGGGTCACACAGCAAGTTAGAAGAGCCAGGATTGGAATCCAAGCTGGAGAGACTTCCATGACCATGAGCCTGGTCACCCTACCAGCCTATGTCCTGGGGTTGGTGCCAGCTGCAAGCTGTGAATGGCACACACGGCCCACCTCCCACCCCCATCATGCTCTCTGGACATCCCAACCCCTGCCTCTCCCAGGGACAGGGTGTGGAGACCGCAACCCCTCCCCTCCATCAGGAAGGGATGGGCTGTTCCCCCCACCTCCTTCCAGTGCTCATGAGCATGGCCAAGATCCAGGGATAAAGAGAGCCCAAATTCATACTAGGTGCCAGCCCAAGCAACGAACTAGGGGGACTCAGGGCCCCTCCAGGGCTGCCTCTCAACATTCACAGAATGTTCCCCACACCCAACACTCCCCAACCCCCGCAGCCTCAAAAAAACGCGGGCCTTCCATTGACTGTAACTGACAAATTTATTGAAGTCTTGGAAAGAGCTGATCACCCGAGAATAAATAAAAGACACAGAACATTCACAGAACCAATAGGTAGCTCGAGATTCAGGTTTGCGGGAGTGACTTTGACTTACACACAGGCCAGCCTTTGTGTCTGGGGCACGCACAGCTGCGGGCATCTCCCAGAAACTTCTTCCCAAAGGATCTGATGGAGGAGGCAGGGCAGGCTCAGAGGAGCCCCACCCTTCTCCAGCGGGGAGACTTCCCAATCTGGGGCTGGCAGAGCCGGCTCCGGCAGGGAGGGCAGGCTGTTTGGCAACAGACATCTGTGGGTGCAGCCTGGACACCAAGGGCCTGGGGTGGGGTGAGGAGGAGACCCTGAGGGGCTTAGAGAATTGAGCTTGGAGAGAAGGGGCGCCAGGCATTTTTGCCTCCTCCACAGGATACTCGAGAACAGAATGATCTAGAGACCTGGGGATTGGGGAAAGCTTCTCCCGGGGAAGGTGGGGCTGGAGGCAGAGAGGCCCCCTGTGGTCTGGGGAGAGGAGGGGGCCTCTCCCGGAGGACACAGGTGTGTCCCCGCCTCTGCAGCCTCTTGCCTCGACAGGCAAGGCCAATCTCCGACCTAAAGAGGGAGCCTCGGGGTGACGGCTCCAAGACACATGGAGCCTGGGAAGTGAAAGCACAATTATGATGATTTCTCAGTTTTAGAGATGAAAGCGTTTTTCCAGCCCTCGGGCTATGCTGGGCTGGGCTGGGCCTCAGCAAGGTGACATTTCATGTCTAGAAATAGCAGCAAGTGCTCAGTTAATTGGTCAATAAAGGGGAGAAATTTGCTTACAAAAAAGGCTGGCTTGCTGGGAGGCCACCTGGCGGGCCAGCCCTGTGTCAGAGGAGGGGCCAGGTGGGTCCCTCAGCCCCCAGAGAGGGAGCTGTGCGGTCGGCAGTGGGAGGCTCCGAAGGCACCAGCCCTCCTTGACGCCCTGGCCCCACTTCCTCGGAAACCCCAGCAGCCCCGAGCCGCCCACCCAGGGGCAGCTCCCTCGTGTGAGGTGCAGGGTGGAGCCGGGCCTGGGTCAGAACTGAGCGTGGTCTACCTCATCCAGCCAGGAGGCGGGGCTGGCAGGGAAGTCGGGGTAACCCCCGCTGCTCCCCGTGGATAGGTCAGAACTGGGTCCGTTCCCTGCCAGCACCCTCATGGGTGGGGGCCCGCCGGGGGCTCCCGAGGGCACAAGGCCCAAGCTGGTGTCTGGGTACACCAGGCTGGAGAGGAGGGGCTGGGGGCCAGGGAGGCTCTGCGGGGCGGCGGGGGATGGGGGGACACCGTAGGGGCTGCCGGGACGCAGCTCTCGGTACTGCTCTGGGCCTGCCAGGCCTCCATGCTCCAGGGAGAAGTTGCCCAGGGCTCCCGAGGGCCGGCCCAAGGCCTGGGTGGGTTCCCCCAAGCTCCCGTAGAGGCCATTGGCCGGGCCCATTTCCGCCAAGGAAGGCTCATCTGCAACAGAAGCAGAGGCTCAGTCAGCGCCTGCCCTCCACCTGCGGCCCCTCAGAGTCCCATCCTGCAGGCGGAGGCACCCCTGGGTCGGAGAAAGAGTGGCTGCCCCACACCACATGACAGGTCATAACAGGCCCCTTCTACTGTTGGAGCATGGCTGCCCCTGCCCCTCCACTGCCCTCACCCCTGAGTCAGCCCAGGTGTCTCAGGCCTGGTGGGATCAGAGTCAGGAACAGCCCAGCCAGGGCCCAGGCTTTCAGGACCAGCCCCACAGCAGCCTAGGAAGGGGGCACAGATACCACCACCCACATTTTGCAGACAAGGATATTTAGTTCCAGAGTGGCTGAGTGAGTAGCCCGGGTCACGAGGCAGCCCAAAAGAGAGTGTCTTGTCCACATTCTGAGGATGGGCATCAACAGATGGGGACGCAGCATCCCCGGTGCCCGGAGAATGAAATAAATAATCCAGGCCCCACAGAAGGGTATGGAACCTTCTCTCCCTGACCCCAGGTAGCCCCCTCCCCCAACTCCAAGCAGCTGGGACTTCGACTCAGTCTTTCCCGAAATGCACTGCCCATTCTCCTAAAAATCACTGCAAGGGCTAGGAGCCAGAGAGACGGCCTGGACACGCCCACCCCCCCATGAGAAAGCCCGTAGGCGCCCAGCTTGGGGACAGGTCGGGCCACAGGGATTGTGTCCCCACCAGGGGAAAAGCAGTGGTCCGGAGTGGCCACCCAGGGCGGGGAGGGTGCTGGGGGAGCAGGTTCTGTAAGTGAAATGCTTTTGAAAGTAGAACTTAAGGAGTCCACTAACTCCATGGGAAATTCAGATCCGCGGGCTCCCTGGGACCCCTGCGACCCCGCCGACGCGCGCTCGTCCCCCCCCGAGCTCCGCGATCCCTCCGCCTACCGGGGAAGGAGACCTCAGCGTCGCTGTCCTGCCCCTCCTGAACGCTGTCCTTGTCCGACTTGGAGCCGCCGCGGGAGCGCTTCATGTTGCGGAAATACTGCCCCCAGCGCTGCCGGCCGGCGTCCTTCTTCAGCCTCTTCTCCTTGGCCCGGCGGTTCTGGAACCAAACCTGGGGGCGGGGCGGGGTGAGCGGCCGCCCGGCTCTGCGGGGGCCCCCAAGGCCGCGGGCGGGAGGGAAGCAGGGGCGAGCGCTGACCTGCACCACGCGCATGTCCAGGCCCGTCTCGGACGAGAGCTGCTCGCGCACGTGGCGCGCCGGCTTGGGCGAGGTGTTGTAAGCGCTCTTCAGCGTCTCCAGCTGCTTGGCGGTGATGGTCGTGCGCGGCCGCTTGGCCGTGGCCTCGGCCTCTGCGCGGCGGGCGAGCGGTGAGGCGCGGCAGCCCCTCCGGCCCCGGCCGGACCCCCAGCCCTCCCACCCCGGCCGGCGCGGGGACGTCGGGGCCTCAGGTGCCCACCCCCATCCCGCCCCACAGGCTTCTCGGAAGGCGCGGGCGCTGGGAGCGATTGGCAAAAACGGGCAGCACCCGGGCTGGGGTGGAGGGGGCGCCGGCGGAGGN | benign | 154,971 |
Determine whether the variant at chromosome 9, position 136198796, in gene LHX3 (LIM homeobox 3) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Combined_pituitary_hormone_deficiencies,_genetic_form', 'Non-acquired_combined_pituitary_hormone_deficiency_with_spine_abnormalities'] | AAGGTGGGGCTGGAGGCAGAGAGGCCCCCTGTGGTCTGGGGAGAGGAGGGGGCCTCTCCCGGAGGACACAGGTGTGTCCCCGCCTCTGCAGCCTCTTGCCTCGACAGGCAAGGCCAATCTCCGACCTAAAGAGGGAGCCTCGGGGTGACGGCTCCAAGACACATGGAGCCTGGGAAGTGAAAGCACAATTATGATGATTTCTCAGTTTTAGAGATGAAAGCGTTTTTCCAGCCCTCGGGCTATGCTGGGCTGGGCTGGGCCTCAGCAAGGTGACATTTCATGTCTAGAAATAGCAGCAAGTGCTCAGTTAATTGGTCAATAAAGGGGAGAAATTTGCTTACAAAAAAGGCTGGCTTGCTGGGAGGCCACCTGGCGGGCCAGCCCTGTGTCAGAGGAGGGGCCAGGTGGGTCCCTCAGCCCCCAGAGAGGGAGCTGTGCGGTCGGCAGTGGGAGGCTCCGAAGGCACCAGCCCTCCCTTGACGCCCTGGCCCCACTTCCTCGGAAACCCCAGCAGCCCCGAGCCGCCCACCCAGGGGCAGCTCCCTCGTGTGAGGTGCAGGGTGGAGCCGGGCCTGGGTCAGAACTGAGCGTGGTCTACCTCATCCAGCCAGGAGGCGGGGCTGGCAGGGAAGTCGGGGTAACCCCCGCTGCTCCCCGTGGATAGGTCAGAACTGGGTCCGTTCCCTGCCAGCACCCTCATGGGTGGGGGCCCGCCGGGGGCTCCCGAGGGCACAAGGCCCAAGCTGGTGTCTGGGTACACCAGGCTGGAGAGGAGGGGCTGGGGGCCAGGGAGGCTCTGCGGGGCGGCGGGGGATGGGGGGACACCGTAGGGGCTGCCGGGACGCAGCTCTCGGTACTGCTCTGGGCCTGCCAGGCCTCCATGCTCCAGGGAGAAGTTGCCCAGGGCTCCCGAGGGCCGGCCCAAGGCCTGGGTGGGTTCCCCCAAGCTCCCGTAGAGGCCATTGGCCGGGCCCATTTCCGCCAAGGAAGGCTCATCTGCAACAGAAGCAGAGGCTCAGTCAGCGCCTGCCCTCCACCTGCGGCCCCTCAGAGTCCCATCCTGCAGGCGGAGGCACCCCTGGGTCGGAGAAAGAGTGGCTGCCCCACACCACATGACAGGTCATAACAGGCCCCTTCTACTGTTGGAGCATGGCTGCCCCTGCCCCTCCACTGCCCTCACCCCTGAGTCAGCCCAGGTGTCTCAGGCCTGGTGGGATCAGAGTCAGGAACAGCCCAGCCAGGGCCCAGGCTTTCAGGACCAGCCCCACAGCAGCCTAGGAAGGGGGCACAGATACCACCACCCACATTTTGCAGACAAGGATATTTAGTTCCAGAGTGGCTGAGTGAGTAGCCCGGGTCACGAGGCAGCCCAAAAGAGAGTGTCTTGTCCACATTCTGAGGATGGGCATCAACAGATGGGGACGCAGCATCCCCGGTGCCCGGAGAATGAAATAAATAATCCAGGCCCCACAGAAGGGTATGGAACCTTCTCTCCCTGACCCCAGGTAGCCCCCTCCCCCAACTCCAAGCAGCTGGGACTTCGACTCAGTCTTTCCCGAAATGCACTGCCCATTCTCCTAAAAATCACTGCAAGGGCTAGGAGCCAGAGAGACGGCCTGGACACGCCCACCCCCCCATGAGAAAGCCCGTAGGCGCCCAGCTTGGGGACAGGTCGGGCCACAGGGATTGTGTCCCCACCAGGGGAAAAGCAGTGGTCCGGAGTGGCCACCCAGGGCGGGGAGGGTGCTGGGGGAGCAGGTTCTGTAAGTGAAATGCTTTTGAAAGTAGAACTTAAGGAGTCCACTAACTCCATGGGAAATTCAGATCCGCGGGCTCCCTGGGACCCCTGCGACCCCGCCGACGCGCGCTCGTCCCCCCCCGAGCTCCGCGATCCCTCCGCCTACCGGGGAAGGAGACCTCAGCGTCGCTGTCCTGCCCCTCCTGAACGCTGTCCTTGTCCGACTTGGAGCCGCCGCGGGAGCGCTTCATGTTGCGGAAATACTGCCCCCAGCGCTGCCGGCCGGCGTCCTTCTTCAGCCTCTTCTCCTTGGCCCGGCGGTTCTGGAACCAAACCTGGGGGCGGGGCGGGGTGAGCGGCCGCCCGGCTCTGCGGGGGCCCCCAAGGCCGCGGGCGGGAGGGAAGCAGGGGCGAGCGCTGACCTGCACCACGCGCATGTCCAGGCCCGTCTCGGACGAGAGCTGCTCGCGCACGTGGCGCGCCGGCTTGGGCGAGGTGTTGTAAGCGCTCTTCAGCGTCTCCAGCTGCTTGGCGGTGATGGTCGTGCGCGGCCGCTTGGCCGTGGCCTCGGCCTCTGCGCGGCGGGCGAGCGGTGAGGCGCGGCAGCCCCTCCGGCCCCGGCCGGACCCCCAGCCCTCCCACCCCGGCCGGCGCGGGGACGTCGGGGCCTCAGGTGCCCACCCCCATCCCGCCCCACAGGCTTCTCGGAAGGCGCGGGCGCTGGGAGCGATTGGCAAAAACGGGCAGCACCCGGGCTGGGGTGGAGGGGGCGCCGGCGGAGGGCGGGTTCTGCCGCGGGGGCGGGGGCGGCGCCTTCCCTAAAATCGCACCTCCACGGCGCCCCCGCCTTCAGCCTTGGCTCCCTTCTCCAAGCACCCTGATTTCCCCGCGGGCTCCCCTTTATTCTAAGGGTGTGGGTATGGCCCAGCCTTCGCGGCCAAGAATTTAGGGCGATAATTCCGACCAGGGGCGAAAAGCCGCACACTTCGGACCGAACGAAGCGGTTCGGGACGCGGGTCTGTCCGTGACTCCGCCGTTCCCGGCCTCGGCTTCCTGCTGCCTACACCGCCCTAGCCCAGGCCCCCTTAGTGAGCGCTTGGGGAGAGAATTTCCCCGGACGCCCCCCTGGGCGTGGCCTCAGCCCCATTTTTTTCAGACCAGGAAAGGTGGGAGCGTCGTCCCCTCGGCTGACCTCGCTGCTTGGCGGTTTCGTAGTCCGCCTTGCACACGAGCCGGCTGTCCTCCATGAGGTAGAACTCGTCGCCCGTGGCCAGCTGCCGCTTGCACACGACGCAGGCAAAGCAGTGCAGGTGGTACACGAAGTCCTGGGCGCGGCGCACCACCTGCGTGGGCGGGATGCCCAGCTGGCACGCGGCGCACTTGGTCCCGAAGCGCCTGCGGGACGCACAGGGCCGGGCTCAGCGCGGAAGCGCGAGGCTCATTTCGCCCCGAGCGGGTTGGAGAGAGGCAAGCGGCTGCCTGGGAAGGCGGCCCCGGAGGAAGGCTCTGTCCGGCCCTGCAGGGTGGTCGCCAGCCTGGCCGCCGGGGCAGAGCTGCCCACTCCCACTGAGAAGGGAACCTCAATCTCAGAAAGACCTCGGGGAGCCCAGCCGCCATTGCCTGCAGGACCCATGCTGGATCTGGGAAGGTGAATCCGGAGGGAGAGGACCCATCTGGGGCCAGTCCCTCACACCCCACAGCTGGAGCCATGAAGGCCACTGGGCCAGAGCCGCTGGGTGCCAGCATTAGGAACTAAAACATCACCAATTTCGGAGGAACTAAGTCCAGTAGAATCCTACAAATAGGGGTGTATCTTCTCTAATGACTGCTTCTGTGATTTAGGTAATAAATTGCTTTTTTTTCCAAATAATACTTGCTGATGTCCCAGCCAGGCCCAGCCACCCAGGGAGCACCCATGGAGAGGCCCCACCCTTAATTTGGCCAGGCCACAGGGTGCCCTGCCTGGGTGACAGGAGTGGGCTGGGATTGCGAGAGACGCAGGCTTCGAGGGCCTGGCCTTGGTGATTGTGAGGGGAGGAGTCCCTGGGGCAGGCGTGCCCTCCGCTCCCACACTGAGGTGAGGTTTCGGGGCTCACTTGAAAAAGTCGTCCTTGCAGTAAACGCTCTCCCCTCGGCTGAAGCAGCGCTCGGCCAGTGGCGTGTGGCAGTCGCTGCACTTGAGACACTTGCTGTGCCAGTGGCGGTCCAGAGCCTTGAGGATGAAGCGGTCCAGGATGTGCTGGTCACAGCCAGCGCACAGCGGGATCTCTGTGGGCACGAGGAAGTTCTGGGTCACCTCGTAGACCAGGAGGCAGTGAAGCCACCTTCCCACCCCAACGCGAGCCAGTCTCCCCTCCG | AAGGTGGGGCTGGAGGCAGAGAGGCCCCCTGTGGTCTGGGGAGAGGAGGGGGCCTCTCCCGGAGGACACAGGTGTGTCCCCGCCTCTGCAGCCTCTTGCCTCGACAGGCAAGGCCAATCTCCGACCTAAAGAGGGAGCCTCGGGGTGACGGCTCCAAGACACATGGAGCCTGGGAAGTGAAAGCACAATTATGATGATTTCTCAGTTTTAGAGATGAAAGCGTTTTTCCAGCCCTCGGGCTATGCTGGGCTGGGCTGGGCCTCAGCAAGGTGACATTTCATGTCTAGAAATAGCAGCAAGTGCTCAGTTAATTGGTCAATAAAGGGGAGAAATTTGCTTACAAAAAAGGCTGGCTTGCTGGGAGGCCACCTGGCGGGCCAGCCCTGTGTCAGAGGAGGGGCCAGGTGGGTCCCTCAGCCCCCAGAGAGGGAGCTGTGCGGTCGGCAGTGGGAGGCTCCGAAGGCACCAGCCCTCCCTTGACGCCCTGGCCCCACTTCCTCGGAAACCCCAGCAGCCCCGAGCCGCCCACCCAGGGGCAGCTCCCTCGTGTGAGGTGCAGGGTGGAGCCGGGCCTGGGTCAGAACTGAGCGTGGTCTACCTCATCCAGCCAGGAGGCGGGGCTGGCAGGGAAGTCGGGGTAACCCCCGCTGCTCCCCGTGGATAGGTCAGAACTGGGTCCGTTCCCTGCCAGCACCCTCATGGGTGGGGGCCCGCCGGGGGCTCCCGAGGGCACAAGGCCCAAGCTGGTGTCTGGGTACACCAGGCTGGAGAGGAGGGGCTGGGGGCCAGGGAGGCTCTGCGGGGCGGCGGGGGATGGGGGGACACCGTAGGGGCTGCCGGGACGCAGCTCTCGGTACTGCTCTGGGCCTGCCAGGCCTCCATGCTCCAGGGAGAAGTTGCCCAGGGCTCCCGAGGGCCGGCCCAAGGCCTGGGTGGGTTCCCCCAAGCTCCCGTAGAGGCCATTGGCCGGGCCCATTTCCGCCAAGGAAGGCTCATCTGCAACAGAAGCAGAGGCTCAGTCAGCGCCTGCCCTCCACCTGCGGCCCCTCAGAGTCCCATCCTGCAGGCGGAGGCACCCCTGGGTCGGAGAAAGAGTGGCTGCCCCACACCACATGACAGGTCATAACAGGCCCCTTCTACTGTTGGAGCATGGCTGCCCCTGCCCCTCCACTGCCCTCACCCCTGAGTCAGCCCAGGTGTCTCAGGCCTGGTGGGATCAGAGTCAGGAACAGCCCAGCCAGGGCCCAGGCTTTCAGGACCAGCCCCACAGCAGCCTAGGAAGGGGGCACAGATACCACCACCCACATTTTGCAGACAAGGATATTTAGTTCCAGAGTGGCTGAGTGAGTAGCCCGGGTCACGAGGCAGCCCAAAAGAGAGTGTCTTGTCCACATTCTGAGGATGGGCATCAACAGATGGGGACGCAGCATCCCCGGTGCCCGGAGAATGAAATAAATAATCCAGGCCCCACAGAAGGGTATGGAACCTTCTCTCCCTGACCCCAGGTAGCCCCCTCCCCCAACTCCAAGCAGCTGGGACTTCGACTCAGTCTTTCCCGAAATGCACTGCCCATTCTCCTAAAAATCACTGCAAGGGCTAGGAGCCAGAGAGACGGCCTGGACACGCCCACCCCCCCATGAGAAAGCCCGTAGGCGCCCAGCTTGGGGACAGGTCGGGCCACAGGGATTGTGTCCCCACCAGGGGAAAAGCAGTGGTCCGGAGTGGCCACCCAGGGCGGGGAGGGTGCTGGGGGAGCAGGTTCTGTAAGTGAAATGCTTTTGAAAGTAGAACTTAAGGAGTCCACTAACTCCATGGGAAATTCAGATCCGCGGGCTCCCTGGGACCCCTGCGACCCCGCCGACGCGCGCTCGTCCCCCCCCGAGCTCCGCGATCCCTCCGCCTACCGGGGAAGGAGACCTCAGCGTCGCTGTCCTGCCCCTCCTGAACGCTGTCCTTGTCCGACTTGGAGCCGCCGCGGGAGCGCTTCATGTTGCGGAAATACTGCCCCCAGCGCTGCCGGCCGGCGTCCTTCTTCAGCCTCTTCTCCTTGGGGCGGGGCGGGGTGAGCGGCCGCCCGGCTCTGCGGGGGCCCCCAAGGCCGCGGGCGGGAGGGAAGCAGGGGCGAGCGCTGACCTGCACCACGCGCATGTCCAGGCCCGTCTCGGACGAGAGCTGCTCGCGCACGTGGCGCGCCGGCTTGGGCGAGGTGTTGTAAGCGCTCTTCAGCGTCTCCAGCTGCTTGGCGGTGATGGTCGTGCGCGGCCGCTTGGCCGTGGCCTCGGCCTCTGCGCGGCGGGCGAGCGGTGAGGCGCGGCAGCCCCTCCGGCCCCGGCCGGACCCCCAGCCCTCCCACCCCGGCCGGCGCGGGGACGTCGGGGCCTCAGGTGCCCACCCCCATCCCGCCCCACAGGCTTCTCGGAAGGCGCGGGCGCTGGGAGCGATTGGCAAAAACGGGCAGCACCCGGGCTGGGGTGGAGGGGGCGCCGGCGGAGGGCGGGTTCTGCCGCGGGGGCGGGGGCGGCGCCTTCCCTAAAATCGCACCTCCACGGCGCCCCCGCCTTCAGCCTTGGCTCCCTTCTCCAAGCACCCTGATTTCCCCGCGGGCTCCCCTTTATTCTAAGGGTGTGGGTATGGCCCAGCCTTCGCGGCCAAGAATTTAGGGCGATAATTCCGACCAGGGGCGAAAAGCCGCACACTTCGGACCGAACGAAGCGGTTCGGGACGCGGGTCTGTCCGTGACTCCGCCGTTCCCGGCCTCGGCTTCCTGCTGCCTACACCGCCCTAGCCCAGGCCCCCTTAGTGAGCGCTTGGGGAGAGAATTTCCCCGGACGCCCCCCTGGGCGTGGCCTCAGCCCCATTTTTTTCAGACCAGGAAAGGTGGGAGCGTCGTCCCCTCGGCTGACCTCGCTGCTTGGCGGTTTCGTAGTCCGCCTTGCACACGAGCCGGCTGTCCTCCATGAGGTAGAACTCGTCGCCCGTGGCCAGCTGCCGCTTGCACACGACGCAGGCAAAGCAGTGCAGGTGGTACACGAAGTCCTGGGCGCGGCGCACCACCTGCGTGGGCGGGATGCCCAGCTGGCACGCGGCGCACTTGGTCCCGAAGCGCCTGCGGGACGCACAGGGCCGGGCTCAGCGCGGAAGCGCGAGGCTCATTTCGCCCCGAGCGGGTTGGAGAGAGGCAAGCGGCTGCCTGGGAAGGCGGCCCCGGAGGAAGGCTCTGTCCGGCCCTGCAGGGTGGTCGCCAGCCTGGCCGCCGGGGCAGAGCTGCCCACTCCCACTGAGAAGGGAACCTCAATCTCAGAAAGACCTCGGGGAGCCCAGCCGCCATTGCCTGCAGGACCCATGCTGGATCTGGGAAGGTGAATCCGGAGGGAGAGGACCCATCTGGGGCCAGTCCCTCACACCCCACAGCTGGAGCCATGAAGGCCACTGGGCCAGAGCCGCTGGGTGCCAGCATTAGGAACTAAAACATCACCAATTTCGGAGGAACTAAGTCCAGTAGAATCCTACAAATAGGGGTGTATCTTCTCTAATGACTGCTTCTGTGATTTAGGTAATAAATTGCTTTTTTTTCCAAATAATACTTGCTGATGTCCCAGCCAGGCCCAGCCACCCAGGGAGCACCCATGGAGAGGCCCCACCCTTAATTTGGCCAGGCCACAGGGTGCCCTGCCTGGGTGACAGGAGTGGGCTGGGATTGCGAGAGACGCAGGCTTCGAGGGCCTGGCCTTGGTGATTGTGAGGGGAGGAGTCCCTGGGGCAGGCGTGCCCTCCGCTCCCACACTGAGGTGAGGTTTCGGGGCTCACTTGAAAAAGTCGTCCTTGCAGTAAACGCTCTCCCCTCGGCTGAAGCAGCGCTCGGCCAGTGGCGTGTGGCAGTCGCTGCACTTGAGACACTTGCTGTGCCAGTGGCGGTCCAGAGCCTTGAGGATGAAGCGGTCCAGGATGTGCTGGTCACAGCCAGCGCACAGCGGGATCTCTGTGGGCACGAGGAAGTTCTGGGTCACCTCGTAGACCAGGAGGCAGTGAAGCCACCTTCCCACCCCAACGCGAGCCAGTCTCCCCTCCGNNNNNNNNNNNNNNNNNNNNNNNNNNN | pathogenic | 154,982 |
Is the chromosome 9, position 136200566 variant in LHX3 (LIM homeobox 3) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | AAATGCTTTTGAAAGTAGAACTTAAGGAGTCCACTAACTCCATGGGAAATTCAGATCCGCGGGCTCCCTGGGACCCCTGCGACCCCGCCGACGCGCGCTCGTCCCCCCCCGAGCTCCGCGATCCCTCCGCCTACCGGGGAAGGAGACCTCAGCGTCGCTGTCCTGCCCCTCCTGAACGCTGTCCTTGTCCGACTTGGAGCCGCCGCGGGAGCGCTTCATGTTGCGGAAATACTGCCCCCAGCGCTGCCGGCCGGCGTCCTTCTTCAGCCTCTTCTCCTTGGCCCGGCGGTTCTGGAACCAAACCTGGGGGCGGGGCGGGGTGAGCGGCCGCCCGGCTCTGCGGGGGCCCCCAAGGCCGCGGGCGGGAGGGAAGCAGGGGCGAGCGCTGACCTGCACCACGCGCATGTCCAGGCCCGTCTCGGACGAGAGCTGCTCGCGCACGTGGCGCGCCGGCTTGGGCGAGGTGTTGTAAGCGCTCTTCAGCGTCTCCAGCTGCTTGGCGGTGATGGTCGTGCGCGGCCGCTTGGCCGTGGCCTCGGCCTCTGCGCGGCGGGCGAGCGGTGAGGCGCGGCAGCCCCTCCGGCCCCGGCCGGACCCCCAGCCCTCCCACCCCGGCCGGCGCGGGGACGTCGGGGCCTCAGGTGCCCACCCCCATCCCGCCCCACAGGCTTCTCGGAAGGCGCGGGCGCTGGGAGCGATTGGCAAAAACGGGCAGCACCCGGGCTGGGGTGGAGGGGGCGCCGGCGGAGGGCGGGTTCTGCCGCGGGGGCGGGGGCGGCGCCTTCCCTAAAATCGCACCTCCACGGCGCCCCCGCCTTCAGCCTTGGCTCCCTTCTCCAAGCACCCTGATTTCCCCGCGGGCTCCCCTTTATTCTAAGGGTGTGGGTATGGCCCAGCCTTCGCGGCCAAGAATTTAGGGCGATAATTCCGACCAGGGGCGAAAAGCCGCACACTTCGGACCGAACGAAGCGGTTCGGGACGCGGGTCTGTCCGTGACTCCGCCGTTCCCGGCCTCGGCTTCCTGCTGCCTACACCGCCCTAGCCCAGGCCCCCTTAGTGAGCGCTTGGGGAGAGAATTTCCCCGGACGCCCCCCTGGGCGTGGCCTCAGCCCCATTTTTTTCAGACCAGGAAAGGTGGGAGCGTCGTCCCCTCGGCTGACCTCGCTGCTTGGCGGTTTCGTAGTCCGCCTTGCACACGAGCCGGCTGTCCTCCATGAGGTAGAACTCGTCGCCCGTGGCCAGCTGCCGCTTGCACACGACGCAGGCAAAGCAGTGCAGGTGGTACACGAAGTCCTGGGCGCGGCGCACCACCTGCGTGGGCGGGATGCCCAGCTGGCACGCGGCGCACTTGGTCCCGAAGCGCCTGCGGGACGCACAGGGCCGGGCTCAGCGCGGAAGCGCGAGGCTCATTTCGCCCCGAGCGGGTTGGAGAGAGGCAAGCGGCTGCCTGGGAAGGCGGCCCCGGAGGAAGGCTCTGTCCGGCCCTGCAGGGTGGTCGCCAGCCTGGCCGCCGGGGCAGAGCTGCCCACTCCCACTGAGAAGGGAACCTCAATCTCAGAAAGACCTCGGGGAGCCCAGCCGCCATTGCCTGCAGGACCCATGCTGGATCTGGGAAGGTGAATCCGGAGGGAGAGGACCCATCTGGGGCCAGTCCCTCACACCCCACAGCTGGAGCCATGAAGGCCACTGGGCCAGAGCCGCTGGGTGCCAGCATTAGGAACTAAAACATCACCAATTTCGGAGGAACTAAGTCCAGTAGAATCCTACAAATAGGGGTGTATCTTCTCTAATGACTGCTTCTGTGATTTAGGTAATAAATTGCTTTTTTTTCCAAATAATACTTGCTGATGTCCCAGCCAGGCCCAGCCACCCAGGGAGCACCCATGGAGAGGCCCCACCCTTAATTTGGCCAGGCCACAGGGTGCCCTGCCTGGGTGACAGGAGTGGGCTGGGATTGCGAGAGACGCAGGCTTCGAGGGCCTGGCCTTGGTGATTGTGAGGGGAGGAGTCCCTGGGGCAGGCGTGCCCTCCGCTCCCACACTGAGGTGAGGTTTCGGGGCTCACTTGAAAAAGTCGTCCTTGCAGTAAACGCTCTCCCCTCGGCTGAAGCAGCGCTCGGCCAGTGGCGTGTGGCAGTCGCTGCACTTGAGACACTTGCTGTGCCAGTGGCGGTCCAGAGCCTTGAGGATGAAGCGGTCCAGGATGTGCTGGTCACAGCCAGCGCACAGCGGGATCTCTGTGGGCACGAGGAAGTTCTGGGTCACCTCGTAGACCAGGAGGCAGTGAAGCCACCTTCCCACCCCAACGCGAGCCAGTCTCCCCTCCGGCCCACAGGACTCAGGGCTGCCGAGGGGTCCTCCTTTCCCTACACACCCTCTTCCCCAGCCAGCTTAAGTGGCCCCGCAAGTTCCGGGAGTGTGCAGGCACCGCATCCTATGTCAGGAGCTAAGGGGAAACTGACATCGGTCTAAAAATGTGTGTGAGCAAGAAAGCAGCCCAGGCCATTTCACGAGGCTGAATACTCAATTACAAAATGTTGCCAGTGCCAAGAAGGGTGCATGTGGAGCTCAAATGAAAACCCCACCCCAGGGGGATCTGCTCTCTGAAGCCCGGCAGGAAACATAGGGAAACGGGTCTTCACCATCACCTGGAGCTGGGGCACCCCATCGGGTCTCCTTCATGTTAAGCGTCATGGCCACTCTTTCTAGGGACTCCTCGCAAATGTGGCTGCCCTGCCTGGTGGCCCTGTCTGCAGGCCTCCGGGGTAAATATCAATGCCTTCCCCATCATTGGGCAGCCGCAAAATTACTTATGAGTGGACTGGACAAGCCGATCCACTGCCTTTGTGTCAGGCGTGGGTGCCCCCAACACCGTCAGAGTTACTCAAACGTCTGGCTTCCCGCTGCTTCTGCCCCCCACACCCCACTTCGGTACTGCAGGCCCCCTGGAGGAACCACACTGGGGAGGTCCAAGGGTGCCCTGTGGGAGCCTCGAGTCTGTGAGCGGGTTTTCCAGGTGTCAAGGGCTGAGGACTCCCTCTTCACTTAGAAAAAGTCTCTGGAAGAGAGGAGTGCCCGCTGAAGGGACCGGGATTTACTGACATATTGCACCCGCCTCCCTGGCTGTGGACCCCGCCGGCTCCAGCCCATCTCCCAGTGGGTGAGAGACACCAGGAAGGGGCTCCCTCGACCTCCGGCGGAAAAAACTGGGCTGCGCCTCCCCACGCAGTGGCGGGAAACCGGCGATGAATGCGCCCCGCATCCGGCAAAACCGCAGCTCCGGGTGCGGAGCGTCGAGGACCCGCTGCGCGCCCGGGGTCCCCATCGTGGGCAGCGATCGCAGGCGAGGACCCGGCTCGGAGCGGGGCGGCCCGACAGGCCGACACAGCGCGGATTCAGCACCGCGGACCGGACAGCGCCTCGGCCGCAGCTCGCCGCCGGCGCCCGCGTCGGGCAAAAGCCGCCCCAGCCCACCCCGCGCCGCGCCCGCGACCCCAGCCTTACGCTGCATGGCGACTCCAGCCCTGGCGGGGGCTCCTGTGTCAGGGATGGCGGGGTCGGCGGAGCCTGGACGCCAGCCCGCCCGCTCCGGCCAGCTCTCCCGAGCGCGGGCGCGCAGTCCTCCTTCCTCCCTCCCTCTCTCCGCCCCCCAGCCCCCGCGGCCAACCCCTCCCAGGAACCGTCGAAAAATAAATAAATAAGTAGGGAACCGCGAGCCCCCACAGCCTGGATGTAACCCCCTTCCCGCCGGCCGGTCCCTCTCACTCCCCACTGGCTCCGGGGCCTCCTTCCCCATCCTGCGGCTCCAGCTGGCCCGGGAGTCGAGGAGAACTGCCCAGGTTCCCTAAGAACCAAAGTGCTGGGAGCTAGAGTGGTGCCACCAGGAAGCTGGGGGGCCTGGAGAAGAGAGGCTTTTTCCTACAGACGGGCCCTGAGCGGGGATAAACCGAGCGGGTGTCTGTGGGCGCAGACGCTGAAACCTGACTTCGGGGAGACCGACGGTCGGAGTTCAGCTCGACCTTGGCCCCTGCATCTGACTCTGTTCCGCTGGAACGTGGAAAGAGTCCGGCTGGGGCGGCCTTCTTGGGGACCCTCCT | AAATGCTTTTGAAAGTAGAACTTAAGGAGTCCACTAACTCCATGGGAAATTCAGATCCGCGGGCTCCCTGGGACCCCTGCGACCCCGCCGACGCGCGCTCGTCCCCCCCCGAGCTCCGCGATCCCTCCGCCTACCGGGGAAGGAGACCTCAGCGTCGCTGTCCTGCCCCTCCTGAACGCTGTCCTTGTCCGACTTGGAGCCGCCGCGGGAGCGCTTCATGTTGCGGAAATACTGCCCCCAGCGCTGCCGGCCGGCGTCCTTCTTCAGCCTCTTCTCCTTGGCCCGGCGGTTCTGGAACCAAACCTGGGGGCGGGGCGGGGTGAGCGGCCGCCCGGCTCTGCGGGGGCCCCCAAGGCCGCGGGCGGGAGGGAAGCAGGGGCGAGCGCTGACCTGCACCACGCGCATGTCCAGGCCCGTCTCGGACGAGAGCTGCTCGCGCACGTGGCGCGCCGGCTTGGGCGAGGTGTTGTAAGCGCTCTTCAGCGTCTCCAGCTGCTTGGCGGTGATGGTCGTGCGCGGCCGCTTGGCCGTGGCCTCGGCCTCTGCGCGGCGGGCGAGCGGTGAGGCGCGGCAGCCCCTCCGGCCCCGGCCGGACCCCCAGCCCTCCCACCCCGGCCGGCGCGGGGACGTCGGGGCCTCAGGTGCCCACCCCCATCCCGCCCCACAGGCTTCTCGGAAGGCGCGGGCGCTGGGAGCGATTGGCAAAAACGGGCAGCACCCGGGCTGGGGTGGAGGGGGCGCCGGCGGAGGGCGGGTTCTGCCGCGGGGGCGGGGGCGGCGCCTTCCCTAAAATCGCACCTCCACGGCGCCCCCGCCTTCAGCCTTGGCTCCCTTCTCCAAGCACCCTGATTTCCCCGCGGGCTCCCCTTTATTCTAAGGGTGTGGGTATGGCCCAGCCTTCGCGGCCAAGAATTTAGGGCGATAATTCCGACCAGGGGCGAAAAGCCGCACACTTCGGACCGAACGAAGCGGTTCGGGACGCGGGTCTGTCCGTGACTCCGCCGTTCCCGGCCTCGGCTTCCTGCTGCCTACACCGCCCTAGCCCAGGCCCCCTTAGTGAGCGCTTGGGGAGAGAATTTCCCCGGACGCCCCCCTGGGCGTGGCCTCAGCCCCATTTTTTTCAGACCAGGAAAGGTGGGAGCGTCGTCCCCTCGGCTGACCTCGCTGCTTGGCGGTTTCGTAGTCCGCCTTGCACACGAGCCGGCTGTCCTCCATGAGGTAGAACTCGTCGCCCGTGGCCAGCTGCCGCTTGCACACGACGCAGGCAAAGCAGTGCAGGTGGTACACGAAGTCCTGGGCGCGGCGCACCACCTGCGTGGGCGGGATGCCCAGCTGGCACGCGGCGCACTTGGTCCCGAAGCGCCTGCGGGACGCACAGGGCCGGGCTCAGCGCGGAAGCGCGAGGCTCATTTCGCCCCGAGCGGGTTGGAGAGAGGCAAGCGGCTGCCTGGGAAGGCGGCCCCGGAGGAAGGCTCTGTCCGGCCCTGCAGGGTGGTCGCCAGCCTGGCCGCCGGGGCAGAGCTGCCCACTCCCACTGAGAAGGGAACCTCAATCTCAGAAAGACCTCGGGGAGCCCAGCCGCCATTGCCTGCAGGACCCATGCTGGATCTGGGAAGGTGAATCCGGAGGGAGAGGACCCATCTGGGGCCAGTCCCTCACACCCCACAGCTGGAGCCATGAAGGCCACTGGGCCAGAGCCGCTGGGTGCCAGCATTAGGAACTAAAACATCACCAATTTCGGAGGAACTAAGTCCAGTAGAATCCTACAAATAGGGGTGTATCTTCTCTAATGACTGCTTCTGTGATTTAGGTAATAAATTGCTTTTTTTTCCAAATAATACTTGCTGATGTCCCAGCCAGGCCCAGCCACCCAGGGAGCACCCATGGAGAGGCCCCACCCTTAATTTGGCCAGGCCACAGGGTGCCCTGCCTGGGTGACAGGAGTGGGCTGGGATTGCGAGAGACGCAGGCTTCGAGGGCCTGGCCTTGGTGATTGTGAGGGGAGGAGTCCCTGGGGCAGGCGTGCCCTCCGCTCCCACACTGAGGTGAGTTTCGGGGCTCACTTGAAAAAGTCGTCCTTGCAGTAAACGCTCTCCCCTCGGCTGAAGCAGCGCTCGGCCAGTGGCGTGTGGCAGTCGCTGCACTTGAGACACTTGCTGTGCCAGTGGCGGTCCAGAGCCTTGAGGATGAAGCGGTCCAGGATGTGCTGGTCACAGCCAGCGCACAGCGGGATCTCTGTGGGCACGAGGAAGTTCTGGGTCACCTCGTAGACCAGGAGGCAGTGAAGCCACCTTCCCACCCCAACGCGAGCCAGTCTCCCCTCCGGCCCACAGGACTCAGGGCTGCCGAGGGGTCCTCCTTTCCCTACACACCCTCTTCCCCAGCCAGCTTAAGTGGCCCCGCAAGTTCCGGGAGTGTGCAGGCACCGCATCCTATGTCAGGAGCTAAGGGGAAACTGACATCGGTCTAAAAATGTGTGTGAGCAAGAAAGCAGCCCAGGCCATTTCACGAGGCTGAATACTCAATTACAAAATGTTGCCAGTGCCAAGAAGGGTGCATGTGGAGCTCAAATGAAAACCCCACCCCAGGGGGATCTGCTCTCTGAAGCCCGGCAGGAAACATAGGGAAACGGGTCTTCACCATCACCTGGAGCTGGGGCACCCCATCGGGTCTCCTTCATGTTAAGCGTCATGGCCACTCTTTCTAGGGACTCCTCGCAAATGTGGCTGCCCTGCCTGGTGGCCCTGTCTGCAGGCCTCCGGGGTAAATATCAATGCCTTCCCCATCATTGGGCAGCCGCAAAATTACTTATGAGTGGACTGGACAAGCCGATCCACTGCCTTTGTGTCAGGCGTGGGTGCCCCCAACACCGTCAGAGTTACTCAAACGTCTGGCTTCCCGCTGCTTCTGCCCCCCACACCCCACTTCGGTACTGCAGGCCCCCTGGAGGAACCACACTGGGGAGGTCCAAGGGTGCCCTGTGGGAGCCTCGAGTCTGTGAGCGGGTTTTCCAGGTGTCAAGGGCTGAGGACTCCCTCTTCACTTAGAAAAAGTCTCTGGAAGAGAGGAGTGCCCGCTGAAGGGACCGGGATTTACTGACATATTGCACCCGCCTCCCTGGCTGTGGACCCCGCCGGCTCCAGCCCATCTCCCAGTGGGTGAGAGACACCAGGAAGGGGCTCCCTCGACCTCCGGCGGAAAAAACTGGGCTGCGCCTCCCCACGCAGTGGCGGGAAACCGGCGATGAATGCGCCCCGCATCCGGCAAAACCGCAGCTCCGGGTGCGGAGCGTCGAGGACCCGCTGCGCGCCCGGGGTCCCCATCGTGGGCAGCGATCGCAGGCGAGGACCCGGCTCGGAGCGGGGCGGCCCGACAGGCCGACACAGCGCGGATTCAGCACCGCGGACCGGACAGCGCCTCGGCCGCAGCTCGCCGCCGGCGCCCGCGTCGGGCAAAAGCCGCCCCAGCCCACCCCGCGCCGCGCCCGCGACCCCAGCCTTACGCTGCATGGCGACTCCAGCCCTGGCGGGGGCTCCTGTGTCAGGGATGGCGGGGTCGGCGGAGCCTGGACGCCAGCCCGCCCGCTCCGGCCAGCTCTCCCGAGCGCGGGCGCGCAGTCCTCCTTCCTCCCTCCCTCTCTCCGCCCCCCAGCCCCCGCGGCCAACCCCTCCCAGGAACCGTCGAAAAATAAATAAATAAGTAGGGAACCGCGAGCCCCCACAGCCTGGATGTAACCCCCTTCCCGCCGGCCGGTCCCTCTCACTCCCCACTGGCTCCGGGGCCTCCTTCCCCATCCTGCGGCTCCAGCTGGCCCGGGAGTCGAGGAGAACTGCCCAGGTTCCCTAAGAACCAAAGTGCTGGGAGCTAGAGTGGTGCCACCAGGAAGCTGGGGGGCCTGGAGAAGAGAGGCTTTTTCCTACAGACGGGCCCTGAGCGGGGATAAACCGAGCGGGTGTCTGTGGGCGCAGACGCTGAAACCTGACTTCGGGGAGACCGACGGTCGGAGTTCAGCTCGACCTTGGCCCCTGCATCTGACTCTGTTCCGCTGGAACGTGGAAAGAGTCCGGCTGGGGCGGCCTTCTTGGGGACCCTCCTN | benign | 154,993 |
Evaluate this variant at chromosome 9, position 136366802, gene CARD9 (caspase recruitment domain family member 9): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Predisposition_to_invasive_fungal_disease_due_to_CARD9_deficiency'] | TTTCAGATGCCAAGACACACCCAGGAGGCCAAGCCACGGCTCCAGCCTGGGGTCCGGGCCATTGTTTCTACAACAAAGCCCGAGGTGGTGCTTGCTCTCAGGACTCCTGTGTTCACCTCCTCATCCACTGTAAAGGCCCTCGGAAAACCAGGACCAGGCACATCCACGTCCAAAAAGCCCCCCAAGCTGCTGCAGTGCCCAAGAAAGGGGGATCCACTTCGCAGCCCAGACACCGCACCCCGAGCACTGTGGGCAGAGACCTTGTGGTCACTCCTCAGCTGTCGTCGGGGCCACCGCAGGGGGTGCCCAGGGCAGGGAGCCACTCTCCCTGTGATCGGTCACCCTGAGGCCCACGGCTGGGAGGACCCCACCCCGGGGAAGCCTTACATGGGGGTTCCGCAAAACCTGCTCCTGGTGCAGAGCTGCAAAGGGCTGTTTCGGGCTCCCCCCGCCGGCAAGGCAGCCTGGAAAGGAGAGTCGTGCCTGTGGGACCTGCCCATCTGCTGGGCCACGTATAGCACGGCTGCCCCACCCCTCCCCGGCATTGCAGTGGGGCTGTCTTCCAAGGCCTGGTGGGATCCCCACATGGGTCCAGTGTAGACTCTGCTTTCTGTAGATGAGACTGAGGCCTTATGGCCTCGCTTGCCTGTTCATTGCTCCAGGAGGCCGCCAGATGCCAGCCCAGGCCCAACGCTCCCGCCAGTGACCATCCCTCCCCCGAGCTGGCTGCCTGCCAGGGAGGAACGCCTCCCAGACCTCGGGGGAACTTAAACCCTGGGCCTGAGCAGCACCGTCCCCCATCACTCCAAAGCATCTGTGGGCATGGCGGCCCTGGGGAGAGAGTTGGGGACAGCTACAGTGGCTGTCTGGGTCCTCCTGAAGTGGGGGCAGGGGTACTGCAGCAATTGGGAGAGAACCTTCAGGCGGCTGGACCCCCTCAGAAACCGCCAGGACCTGGGCAGACCAGGGATCAGGACCCTTGGGCAGAAACCACGCACGTCCAGTCTCAGCCCCACTGCGGTGAGGGCCAGGCCAGGGCTGTCCTGGCCATTGGCAGCCCCTTAGAGCCAGCCCCTCCCCTGCTCACCCTCCAACCTTCACACCTGCCCCTGCTCCTGCCACAGCCACCCAGGGGGATGGGGGCAGTGCCTGAGCCGGACTCCTGGGTCCTGCTCGCCTCTGTGCCTACATGGGGGCTTGGCATCCCCATGTTCAAGTGTTCTGAGCTGCAGCCAAAGGCGCTGGTCTTCACTTCCCCGTCTGCGGCTCCTCCTTCCCCTTCCGCCTCTGCTTGGAGGCCACGGCCTGGTACTCAGGAAGCTTGTCCAACTCCGGTGCAGCCTCCCAGGACCCCTCTGCTGGGCCCTCCCCAACCCCTACCTGACAGCACCTTCAGTGCAAACACCTACCTCATCACCACTGCCCACTCCTGGACACTCGGGAGCTGCTCCCAGCTAGCCACCCAGTCCTTCCCCCAGACAGGCAGAGGGGGCCTGCCCTGCCCGCTAGAAGCCCCTGCCACTGCCTTACCCCCACTGCACCGGGACACAGCAGGCCCTTGGCCACCCCTGCATTCAGCCCTTTCCCTCAAGCCACGTGGGGCCCCATCTCGCCCCATCTTCTAGCTTCATGCACCTGGTCGTTCGCTCGTTACCACCTCCCTCTGTCCAGGAGGAAGCTTGGAGCAGCCAGGACTGGGCCTGCTCACCTCTGCACCCCGTGGGGGCTGCCCAGAGGGGCCCCACACTCTCAGGACGGTGGGCCTGCTCACCTCTGCAGCCCATGGGGGCTGCCCAGACCCCCACACTCTCCACCCCAGGGGACACTTGTCCCACTAGCTGGGGCCCTGGGTTCCAGCTGGGCTCTGTAGTTTGTTCTCTAGGTGACCTTGACCATTTTACTTATCCCCAGCCCCAGTTTCCCTGTCTGTGGAGTGGGGGTTGTGGGGGTTGACACAGGCATTGCGGCACGGGCTGCCTGTGCTGAAGATGGGCCTCACTTGGGGAAGCTGGGAGGCCTCTGGGTGTACTGCTGTCCCCACCTCACCTTTGTCTGAGAGCTGGGTGTCCTCCAGGTCCTGGGGGAGTGAGAGCTTCCAAAGAGAGTCAAGATGTCCCATTAGGCCACTTCGCCAAGGACTGGACCCGGCCACACTGCCCACCCCAGCCCTTGGCCCTCAGCTGGGTGCAGCCATTGCCGTCACCCCCTGCACAGAGCTTCTCAGAGACTCAGGTGCCCAGCAGACGGACATTGGGCGGCCAGGAGGTGGGCACTGTCCGTGCCTTACCTTACCCCTTGAGCCATCAGAGGCCTTAGCATTTGGCCACCTGCTCTTCCTCCACCCAGCCCAGCCCACCGAGCAGGGCCATGTGACGGGCAGTGTGGGGCTATGCCTGGTGGCAGCTCAGCCAGGACCCCAGGTGAAGGAAGGCCAGCCTCGTGCTGGCTGGGGTCTCACTCACCTCCTGGGACCTCCTGGGTGAGCCATCTTCCAGGTCGGAGCTCTGTGGTCATAGAAAATGGGGTGGGTGGGCTGTGAGGGCAGAGGGCTCCCCAGGCACAGGGTGGGCAGGGCACAGAGCGGGATCCTCCAGGGAGCCCTGGGCATGCCCTCAGCCACACCAGGCCCCCTCCATGCCCAGAACAACCTGCTAGGCTGCCTGATGGCCAGGCCCAGGACCCACCCCGGCCCTGCAGCCCCACTTCCTGCTGGGACCCTGAACTGCTCGTGTGCCCTCACCCCACTGCCAGGAGGGGTTTGGTTAGGTTGGGGCCCGTCACAGAGAAGGGTTGGGTCGGGAAGGCCGGGGCTGAGGCTCCGTGCTCCCCTGGCCCTGCATCCCACGCGCCGGCTCCCCTCCCTGCCGCAGGCCCCAGGCCCACCAGGACGAGCGTCTCCAGCTGCTGCCGCCTGAGCCTGCCCTCCACGGCCAGTAGCTGCGCCTCACACTGGAACACCTGCAGCTGCAGCTCATCCGCCTTCTCGCCCAGCTCCCGCACCTGCTTGCGCAGCGCGTCCTTCTCCTGCAGGCCCCGGGCGTGCTGTGCGTGCAGCTCCTCCCGCGTGGCTATGGCCTGACGGGACAGCACAAGGCCGACCCTCAGTGAGGGCCCCAAGCTTGCCCTGGGCCCTCGGCCCGGCCGCCCAACTCCAAGCAGAGGCTCCGGAGGACGTCAAGCCGCTGGGCGCGGAGGCTGGTCACAGCCCCTCCATTTGTGTGCTCTGCGGACACGAAGTCAGCACGTGGGGGATTGTAAATGTGACAGTTGTCCCTGCTGCCCTTCTGTCTCCTCCCAAGCCTGCACCCCCGGTGGACACAGCGTGTGCTATGTACCCCCACACGTGCACATTTGATAAATTTTGGACGCGGCTTGATATGGAGACCCTGACTGTCCATAGCTAAGCGTCCTTCGTGACCGCAGCACTCTTTACCACCCCTGTCCTCACTGCGGACACTGAGACGCAGGAGCGAATGTGCAAACACGACGGCTTGACCACCCCTGCAGCCGAGGCTGGGAGGCCCTCACCTAACCCCTTCTGCCCAGACTGGAGCAACGGCTGGCAGCTTCCCTAATCCCTGGCCAACGCGCTCCCGGGAAGTCCCGTGGGAGCCCCCGCCCTGGGAGCCACACCAACCCCCATGGGGGCACAGCTGGATCTGCCCTTTTCCCCTGCCTTGGCGTGGGCCAGGCGCGAGTGAGGCTGAGGTGGGGCTGAGACAGGAGCTCTGAGCCTGGGCTGCTCTCATGGGGGCCGGGGCTTCCTTTGTAGCCCCAGGGGTCTCGTTTTAAGGCTCCTGATGTGGACAAAGTGCCATCCAGCATTTAGCCGAAGCAGCAATGGTGTCCATTGGAAACAACCTCCAGGATGGGACTTGGGACGGGGCATGGGAAGCAGACACAGCCCTGCCCCGCGACGCTCCATCCGGCTCACAGCACGTAGCACTGGAGGCCTTGCAGGCCTCACTCCCGTGGCCCAGGCTGGAGTGCAATAGCGCAATGGTGACTTGCTGCAGCCTCAGCCTCCTAAATAGCTGGGACCACAGGCATGCGCCACCACGACCAGTTAATTTTTTTTTTTTTTGAGACGGAGTCT | TTTCAGATGCCAAGACACACCCAGGAGGCCAAGCCACGGCTCCAGCCTGGGGTCCGGGCCATTGTTTCTACAACAAAGCCCGAGGTGGTGCTTGCTCTCAGGACTCCTGTGTTCACCTCCTCATCCACTGTAAAGGCCCTCGGAAAACCAGGACCAGGCACATCCACGTCCAAAAAGCCCCCCAAGCTGCTGCAGTGCCCAAGAAAGGGGGATCCACTTCGCAGCCCAGACACCGCACCCCGAGCACTGTGGGCAGAGACCTTGTGGTCACTCCTCAGCTGTCGTCGGGGCCACCGCAGGGGGTGCCCAGGGCAGGGAGCCACTCTCCCTGTGATCGGTCACCCTGAGGCCCACGGCTGGGAGGACCCCACCCCGGGGAAGCCTTACATGGGGGTTCCGCAAAACCTGCTCCTGGTGCAGAGCTGCAAAGGGCTGTTTCGGGCTCCCCCCGCCGGCAAGGCAGCCTGGAAAGGAGAGTCGTGCCTGTGGGACCTGCCCATCTGCTGGGCCACGTATAGCACGGCTGCCCCACCCCTCCCCGGCATTGCAGTGGGGCTGTCTTCCAAGGCCTGGTGGGATCCCCACATGGGTCCAGTGTAGACTCTGCTTTCTGTAGATGAGACTGAGGCCTTATGGCCTCGCTTGCCTGTTCATTGCTCCAGGAGGCCGCCAGATGCCAGCCCAGGCCCAACGCTCCCGCCAGTGACCATCCCTCCCCCGAGCTGGCTGCCTGCCAGGGAGGAACGCCTCCCAGACCTCGGGGGAACTTAAACCCTGGGCCTGAGCAGCACCGTCCCCCATCACTCCAAAGCATCTGTGGGCATGGCGGCCCTGGGGAGAGAGTTGGGGACAGCTACAGTGGCTGTCTGGGTCCTCCTGAAGTGGGGGCAGGGGTACTGCAGCAATTGGGAGAGAACCTTCAGGCGGCTGGACCCCCTCAGAAACCGCCAGGACCTGGGCAGACCAGGGATCAGGACCCTTGGGCAGAAACCACGCACGTCCAGTCTCAGCCCCACTGCGGTGAGGGCCAGGCCAGGGCTGTCCTGGCCATTGGCAGCCCCTTAGAGCCAGCCCCTCCCCTGCTCACCCTCCAACCTTCACACCTGCCCCTGCTCCTGCCACAGCCACCCAGGGGGATGGGGGCAGTGCCTGAGCCGGACTCCTGGGTCCTGCTCGCCTCTGTGCCTACATGGGGGCTTGGCATCCCCATGTTCAAGTGTTCTGAGCTGCAGCCAAAGGCGCTGGTCTTCACTTCCCCGTCTGCGGCTCCTCCTTCCCCTTCCGCCTCTGCTTGGAGGCCACGGCCTGGTACTCAGGAAGCTTGTCCAACTCCGGTGCAGCCTCCCAGGACCCCTCTGCTGGGCCCTCCCCAACCCCTACCTGACAGCACCTTCAGTGCAAACACCTACCTCATCACCACTGCCCACTCCTGGACACTCGGGAGCTGCTCCCAGCTAGCCACCCAGTCCTTCCCCCAGACAGGCAGAGGGGGCCTGCCCTGCCCGCTAGAAGCCCCTGCCACTGCCTTACCCCCACTGCACCGGGACACAGCAGGCCCTTGGCCACCCCTGCATTCAGCCCTTTCCCTCAAGCCACGTGGGGCCCCATCTCGCCCCATCTTCTAGCTTCATGCACCTGGTCGTTCGCTCGTTACCACCTCCCTCTGTCCAGGAGGAAGCTTGGAGCAGCCAGGACTGGGCCTGCTCACCTCTGCACCCCGTGGGGGCTGCCCAGAGGGGCCCCACACTCTCAGGACGGTGGGCCTGCTCACCTCTGCAGCCCATGGGGGCTGCCCAGACCCCCACACTCTCCACCCCAGGGGACACTTGTCCCACTAGCTGGGGCCCTGGGTTCCAGCTGGGCTCTGTAGTTTGTTCTCTAGGTGACCTTGACCATTTTACTTATCCCCAGCCCCAGTTTCCCTGTCTGTGGAGTGGGGGTTGTGGGGGTTGACACAGGCATTGCGGCACGGGCTGCCTGTGCTGAAGATGGGCCTCACTTGGGGAAGCTGGGAGGCCTCTGGGTGTACTGCTGTCCCCACCTCACCTTTGAGAGCTGGGTGTCCTCCAGGTCCTGGGGGAGTGAGAGCTTCCAAAGAGAGTCAAGATGTCCCATTAGGCCACTTCGCCAAGGACTGGACCCGGCCACACTGCCCACCCCAGCCCTTGGCCCTCAGCTGGGTGCAGCCATTGCCGTCACCCCCTGCACAGAGCTTCTCAGAGACTCAGGTGCCCAGCAGACGGACATTGGGCGGCCAGGAGGTGGGCACTGTCCGTGCCTTACCTTACCCCTTGAGCCATCAGAGGCCTTAGCATTTGGCCACCTGCTCTTCCTCCACCCAGCCCAGCCCACCGAGCAGGGCCATGTGACGGGCAGTGTGGGGCTATGCCTGGTGGCAGCTCAGCCAGGACCCCAGGTGAAGGAAGGCCAGCCTCGTGCTGGCTGGGGTCTCACTCACCTCCTGGGACCTCCTGGGTGAGCCATCTTCCAGGTCGGAGCTCTGTGGTCATAGAAAATGGGGTGGGTGGGCTGTGAGGGCAGAGGGCTCCCCAGGCACAGGGTGGGCAGGGCACAGAGCGGGATCCTCCAGGGAGCCCTGGGCATGCCCTCAGCCACACCAGGCCCCCTCCATGCCCAGAACAACCTGCTAGGCTGCCTGATGGCCAGGCCCAGGACCCACCCCGGCCCTGCAGCCCCACTTCCTGCTGGGACCCTGAACTGCTCGTGTGCCCTCACCCCACTGCCAGGAGGGGTTTGGTTAGGTTGGGGCCCGTCACAGAGAAGGGTTGGGTCGGGAAGGCCGGGGCTGAGGCTCCGTGCTCCCCTGGCCCTGCATCCCACGCGCCGGCTCCCCTCCCTGCCGCAGGCCCCAGGCCCACCAGGACGAGCGTCTCCAGCTGCTGCCGCCTGAGCCTGCCCTCCACGGCCAGTAGCTGCGCCTCACACTGGAACACCTGCAGCTGCAGCTCATCCGCCTTCTCGCCCAGCTCCCGCACCTGCTTGCGCAGCGCGTCCTTCTCCTGCAGGCCCCGGGCGTGCTGTGCGTGCAGCTCCTCCCGCGTGGCTATGGCCTGACGGGACAGCACAAGGCCGACCCTCAGTGAGGGCCCCAAGCTTGCCCTGGGCCCTCGGCCCGGCCGCCCAACTCCAAGCAGAGGCTCCGGAGGACGTCAAGCCGCTGGGCGCGGAGGCTGGTCACAGCCCCTCCATTTGTGTGCTCTGCGGACACGAAGTCAGCACGTGGGGGATTGTAAATGTGACAGTTGTCCCTGCTGCCCTTCTGTCTCCTCCCAAGCCTGCACCCCCGGTGGACACAGCGTGTGCTATGTACCCCCACACGTGCACATTTGATAAATTTTGGACGCGGCTTGATATGGAGACCCTGACTGTCCATAGCTAAGCGTCCTTCGTGACCGCAGCACTCTTTACCACCCCTGTCCTCACTGCGGACACTGAGACGCAGGAGCGAATGTGCAAACACGACGGCTTGACCACCCCTGCAGCCGAGGCTGGGAGGCCCTCACCTAACCCCTTCTGCCCAGACTGGAGCAACGGCTGGCAGCTTCCCTAATCCCTGGCCAACGCGCTCCCGGGAAGTCCCGTGGGAGCCCCCGCCCTGGGAGCCACACCAACCCCCATGGGGGCACAGCTGGATCTGCCCTTTTCCCCTGCCTTGGCGTGGGCCAGGCGCGAGTGAGGCTGAGGTGGGGCTGAGACAGGAGCTCTGAGCCTGGGCTGCTCTCATGGGGGCCGGGGCTTCCTTTGTAGCCCCAGGGGTCTCGTTTTAAGGCTCCTGATGTGGACAAAGTGCCATCCAGCATTTAGCCGAAGCAGCAATGGTGTCCATTGGAAACAACCTCCAGGATGGGACTTGGGACGGGGCATGGGAAGCAGACACAGCCCTGCCCCGCGACGCTCCATCCGGCTCACAGCACGTAGCACTGGAGGCCTTGCAGGCCTCACTCCCGTGGCCCAGGCTGGAGTGCAATAGCGCAATGGTGACTTGCTGCAGCCTCAGCCTCCTAAATAGCTGGGACCACAGGCATGCGCCACCACGACCAGTTAATTTTTTTTTTTTTTGAGACGGAGTCTNNNN | pathogenic | 155,012 |
The chromosome 9, position 136370424 genetic variant in gene CARD9 (caspase recruitment domain family member 9): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Predisposition_to_invasive_fungal_disease_due_to_CARD9_deficiency'] | GGGAGCCACACCAACCCCCATGGGGGCACAGCTGGATCTGCCCTTTTCCCCTGCCTTGGCGTGGGCCAGGCGCGAGTGAGGCTGAGGTGGGGCTGAGACAGGAGCTCTGAGCCTGGGCTGCTCTCATGGGGGCCGGGGCTTCCTTTGTAGCCCCAGGGGTCTCGTTTTAAGGCTCCTGATGTGGACAAAGTGCCATCCAGCATTTAGCCGAAGCAGCAATGGTGTCCATTGGAAACAACCTCCAGGATGGGACTTGGGACGGGGCATGGGAAGCAGACACAGCCCTGCCCCGCGACGCTCCATCCGGCTCACAGCACGTAGCACTGGAGGCCTTGCAGGCCTCACTCCCGTGGCCCAGGCTGGAGTGCAATAGCGCAATGGTGACTTGCTGCAGCCTCAGCCTCCTAAATAGCTGGGACCACAGGCATGCGCCACCACGACCAGTTAATTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTACAGTAGCGTGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGGAACCACACCAGGCTAATTTTTGTGTTTTTAGTAGAGACGGGGTTTCCCCATACTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGAGCCGCCTGCCTCGCCCTCCTAGAGTGCTGGGATTATAGGCGTGAGCCACCGCGCCAGGCCAATTTTTGCATTTTTTTGTAGAGCAGGGATCTCACCGTGTTGCCCAGGCTGCTCTGGAACTCCTGGGCTCAAGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATGACAGGCGAGAGACACCACGTCCAGCCAAGCTTTTTTTAAGATTAAAAAAAGCTACTGGTAAAACAAGACAGAATGTTTCCATTTTTGTAAAACAAAACCAAATATATAAATAGATAGATAGGTGATAGATGATAGACAGATGGATACATGGATAGATGACAGGTAAGTCTGTAAGGTGGAGCGGGAAGGTTGAACACGGTTTTCCCTGACAGTAGGCTGGGGTGGGGAAGTATTGACTTCATCATCGTTTACTTTTTTTTAGTGTTAAGTATTGCTTCTGTCATTTAAAAAACAGACCAGGTGTGGCAGCTCAGCTTGCAATCCCAGCACTTTGGGAGGCTGAGGCCGGAGGATTGCTTGAGGCCAGTAGTTTGAGGCCACCCTGGGTGACATAGCAAGACCCCATCTCAAAAACAAATAACAAAGATTAAAAATCCTCTGACAACTGCCCTCAAGGGCCGTGGCCCTGGTGCACCCACCCGCGAGTGGGGTGCTTTGTCCTGCCCCTGCGAGTGCCCACCTGGTCCCGCTCAATGGCGACCTCCTCCATCTGCAGCAGGATGGCCTCGATGCGGTCCTTGTACATCTTGGAGTCCTTACGTAGTGCCAGGCACTGCAGCTCGAACATCTCCTTCTCCTCCATGCACTGCAGGGGGCGGCAGCTCAGCCCCCACAGGCCTGAGGCCCCCCATTCTGGCCCTTGGGGTATACTCCGGGCAGGGGCTCAGAAGCATGTGGTCAGGCCAGTTGGGATGTCGGGGGAGGCCATAGGAGTCCCCAGGCCCCTACCAGCCCTGCACTTCCAGACCGCGGCAGGACAGGGCCCTCCGGCAGGCCTCAGACACTGCTGTGCCTCAGGCACCATGAGCCCAGAGGTTGGCCTTTGCCATGGGGGGCAGGCGGGCAAGGAGAGGGCACCGTCCACTGTGCCTCCAGGAGTGGGTGAGTGGAGGCGCTGCACTGGGGTCTCCACACCCCACCTTCCAGGCACGGAGTGGGCGGAGCTCAGCCCGTCCAGCCTGGCTTGGACCCCAGGGGCCATGTCTCCCCGCCTGCCCTCCTACCCGGAGGCGTCGGGCCTCGCCCTGGCGGAGGTCCTTGCGCAGGGAGAAGATGGTGTTGGCCTGCTCCTGGTGGTCCCGCAGCGCCTGCCGCCAGTCCTCCTCCAGTACCTGGATGTAGGGGCTGCTCCTGTCCAGCTTCCCCTCCTGAAGGGGGCAAAAGGCAATGGCCTGGCTGGGAAGGCCCCCACTGCCCTGCCTGGGCTGCACCTGCCCTGCCTACGGCCCCACCTGGACGGAGGCCTCCAGCTCCTGCACCCGGGCCTGGAGCAGGGCCTTCTCCTGCTGCAGCTCCCACAGCAGCTCCTGGCTGGGCCGCTGCTCCATGGCGTGCCTGAGCTTCAGCGTGTGCTTGCGCTCCACCTTGCAGTCGTCCTCGGCCTTCATGAGGCTGTGCTTGAGCTGGTCAATCTGCAGAAGGTCCAGTGAGCCTGGCTGTCCCCTCCAGGCGGTGACCGCAGACCCGTGGGGCCACCCCCGACCGCCCCGGCCTGCAGACCCCGCCAGGCCAGGCGAGGGTGGCCTGGTTTCCCGGGGGCAGCGGGCGCACCTCCAGCTGCAGGTCACGGTTCCGCATGAGCGCGGCGCCCTTCTCCTCACTCTGGTGCGCCAGGCGCATGGCCAGGTCGTAGTTCTCCTCCTTGCAGCGCTTGAGCTCGCGGCTGCCGGCCTCGCACTCCTCCTTGAGCCTCTGCACACGCTCCTGGTGCTTGCGCAGCAGGCTGTCCTTCACCCGCAGCTCCTTGATGAAGTCATCTTTGGAGCTCAGCAGCGCGGTCAGGTCCTGCACCTTCTTCTGCAGCTTCATGACCTCAGTCATCAGCAGCTGAGTCAGGCCTGACTCCCCGGACGCGTCTGTGGGCCAGGCCAGTGTCAGATGGTGCCGTGTTCCCCGGTGGCCCAGCTCCATCACGCCCTGCGCTGTGGCAGGAGCTCAGGGCTCCTAGGGATGGGGGCCAGGCAGAGGACCCAACACCACTGCCCGCTCCCCGCCAGCGCCTCCCCTGTCGGCCCCGCCTCCCCCGTCACTCACCGATGATCATGGAGAAGACGCGGGCCGGCTCCTTGCCTGTGACCTTCTTGTACAGCTGCGGGTAGTAGAGCTCCAGGCTCTCGAGGAAGGCCACGTAGCCCTTGTGGCCGGTCCGCTGCAGGATGTCCAGGAGCACACCTGCGGGCCAGAGAGGCCTAACTGGGGGCGGGGCACAGGCGAGGCAGAGGGCTGGGGTGGGTGGGCCTGGGGGCAGGGACAGGTGGAGGCTGGCATGCAGATGAGGTGTGCCGTGGTCTGGGTCTTGGATGAGGTACCCTGCGGGTCTTGGTACTAGGCTGGGGACCAAGTGCTGCCCACCCGCCCCTTGGCTGTCTCAGGAGCCCCCGCTGCGGTGGGAGCCCCGCTGCCCCTCTTGGCAGCACCAAGCCGGCAGGAGAGGCTGGGGGACGGGCCACGTGCCAGGGTTGAGGTTGGGCCTCAGTCAGAGGCCAGGGGCAAAGCCAGGCGGGGCTCTCCTGGGGTTGAGGGTCAGGGTGGCAGAGCGTGCAGCCACCTCCGAGCTGACTCTGTGGTTGGGTTTGGGGCCTGGGGCCCGCGGGGCAACACTGACCCACTTTCCGTTTGCGGATGACCAGGTTGGGGTCGCTGAGCACCTGCTCCTCATCATCGGGGTTCAGGACCTTGCACTGCCGCAGGTAAGGTGTGATGCGTGAGGGGTCGATGACCGAGGTGAGCGTCACCCGGAAGCCCTCCAGGACGCTCCAGCACTCGTCATCGTTCTCGTAGTCCGACATGGCCTCAGCAGGCAGGCTGGGGAGTGTGGGGCAGTGCTGAGAGCGATGCCGGCTCCTGCCCCCACCCGGGCCCAGCTCCCACTCCTTCTCAGACGCTGGGCCAGGGCTCTCGTCAGGGCATCGAGGGGGATCAGCCCAGGGGCATCCAGGAGAGGTGCCCAGCTCCATGTCCCATCCCCACGCTGGATCCCCCAGGGAGGCAGCAGAGACACAGTGACCCCGCTCCCCACCAGACCAGCCGAGGGCCCCTCCGCAGCCTTTCCCAGCCCTTGCTCCTGCCCGTTGGCATCCATGTCACCCAGATACGCAGCGGGGGAGGCACAGATGGGGTCTGAGAGAGGAACTCCCCCTACAGCATGACCCCCTCTGGCCTCTGCCTCCTGGACACTCCCA | GGGAGCCACACCAACCCCCATGGGGGCACAGCTGGATCTGCCCTTTTCCCCTGCCTTGGCGTGGGCCAGGCGCGAGTGAGGCTGAGGTGGGGCTGAGACAGGAGCTCTGAGCCTGGGCTGCTCTCATGGGGGCCGGGGCTTCCTTTGTAGCCCCAGGGGTCTCGTTTTAAGGCTCCTGATGTGGACAAAGTGCCATCCAGCATTTAGCCGAAGCAGCAATGGTGTCCATTGGAAACAACCTCCAGGATGGGACTTGGGACGGGGCATGGGAAGCAGACACAGCCCTGCCCCGCGACGCTCCATCCGGCTCACAGCACGTAGCACTGGAGGCCTTGCAGGCCTCACTCCCGTGGCCCAGGCTGGAGTGCAATAGCGCAATGGTGACTTGCTGCAGCCTCAGCCTCCTAAATAGCTGGGACCACAGGCATGCGCCACCACGACCAGTTAATTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTACAGTAGCGTGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGGAACCACACCAGGCTAATTTTTGTGTTTTTAGTAGAGACGGGGTTTCCCCATACTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGAGCCGCCTGCCTCGCCCTCCTAGAGTGCTGGGATTATAGGCGTGAGCCACCGCGCCAGGCCAATTTTTGCATTTTTTTGTAGAGCAGGGATCTCACCGTGTTGCCCAGGCTGCTCTGGAACTCCTGGGCTCAAGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATGACAGGCGAGAGACACCACGTCCAGCCAAGCTTTTTTTAAGATTAAAAAAAGCTACTGGTAAAACAAGACAGAATGTTTCCATTTTTGTAAAACAAAACCAAATATATAAATAGATAGATAGGTGATAGATGATAGACAGATGGATACATGGATAGATGACAGGTAAGTCTGTAAGGTGGAGCGGGAAGGTTGAACACGGTTTTCCCTGACAGTAGGCTGGGGTGGGGAAGTATTGACTTCATCATCGTTTACTTTTTTTTAGTGTTAAGTATTGCTTCTGTCATTTAAAAAACAGACCAGGTGTGGCAGCTCAGCTTGCAATCCCAGCACTTTGGGAGGCTGAGGCCGGAGGATTGCTTGAGGCCAGTAGTTTGAGGCCACCCTGGGTGACATAGCAAGACCCCATCTCAAAAACAAATAACAAAGATTAAAAATCCTCTGACAACTGCCCTCAAGGGCCGTGGCCCTGGTGCACCCACCCGCGAGTGGGGTGCTTTGTCCTGCCCCTGCGAGTGCCCACCTGGTCCCGCTCAATGGCGACCTCCTCCATCTGCAGCAGGATGGCCTCGATGCGGTCCTTGTACATCTTGGAGTCCTTACGTAGTGCCAGGCACTGCAGCTCGAACATCTCCTTCTCCTCCATGCACTGCAGGGGGCGGCAGCTCAGCCCCCACAGGCCTGAGGCCCCCCATTCTGGCCCTTGGGGTATACTCCGGGCAGGGGCTCAGAAGCATGTGGTCAGGCCAGTTGGGATGTCGGGGGAGGCCATAGGAGTCCCCAGGCCCCTACCAGCCCTGCACTTCCAGACCGCGGCAGGACAGGGCCCTCCGGCAGGCCTCAGACACTGCTGTGCCTCAGGCACCATGAGCCCAGAGGTTGGCCTTTGCCATGGGGGGCAGGCGGGCAAGGAGAGGGCACCGTCCACTGTGCCTCCAGGAGTGGGTGAGTGGAGGCGCTGCACTGGGGTCTCCACACCCCACCTTCCAGGCACGGAGTGGGCGGAGCTCAGCCCGTCCAGCCTGGCTTGGACCCCAGGGGCCATGTCTCCCCGCCTGCCCTCCTACCCGGAGGCGTCGGGCCTCGCCCTGGCGGAGGTCCTTGCGCAGGGAGAAGATGGTGTTGGCCTGCTCCTGGTGGTCCCGCAGCGCCTGCCGCCAGTCCTCCTCCAGTACCTGGATGTAGGGGCTGCTCCTGTCCCAGCTTCCCCTCCTGAAGGGGGCAAAAGGCAATGGCCTGGCTGGGAAGGCCCCCACTGCCCTGCCTGGGCTGCACCTGCCCTGCCTACGGCCCCACCTGGACGGAGGCCTCCAGCTCCTGCACCCGGGCCTGGAGCAGGGCCTTCTCCTGCTGCAGCTCCCACAGCAGCTCCTGGCTGGGCCGCTGCTCCATGGCGTGCCTGAGCTTCAGCGTGTGCTTGCGCTCCACCTTGCAGTCGTCCTCGGCCTTCATGAGGCTGTGCTTGAGCTGGTCAATCTGCAGAAGGTCCAGTGAGCCTGGCTGTCCCCTCCAGGCGGTGACCGCAGACCCGTGGGGCCACCCCCGACCGCCCCGGCCTGCAGACCCCGCCAGGCCAGGCGAGGGTGGCCTGGTTTCCCGGGGGCAGCGGGCGCACCTCCAGCTGCAGGTCACGGTTCCGCATGAGCGCGGCGCCCTTCTCCTCACTCTGGTGCGCCAGGCGCATGGCCAGGTCGTAGTTCTCCTCCTTGCAGCGCTTGAGCTCGCGGCTGCCGGCCTCGCACTCCTCCTTGAGCCTCTGCACACGCTCCTGGTGCTTGCGCAGCAGGCTGTCCTTCACCCGCAGCTCCTTGATGAAGTCATCTTTGGAGCTCAGCAGCGCGGTCAGGTCCTGCACCTTCTTCTGCAGCTTCATGACCTCAGTCATCAGCAGCTGAGTCAGGCCTGACTCCCCGGACGCGTCTGTGGGCCAGGCCAGTGTCAGATGGTGCCGTGTTCCCCGGTGGCCCAGCTCCATCACGCCCTGCGCTGTGGCAGGAGCTCAGGGCTCCTAGGGATGGGGGCCAGGCAGAGGACCCAACACCACTGCCCGCTCCCCGCCAGCGCCTCCCCTGTCGGCCCCGCCTCCCCCGTCACTCACCGATGATCATGGAGAAGACGCGGGCCGGCTCCTTGCCTGTGACCTTCTTGTACAGCTGCGGGTAGTAGAGCTCCAGGCTCTCGAGGAAGGCCACGTAGCCCTTGTGGCCGGTCCGCTGCAGGATGTCCAGGAGCACACCTGCGGGCCAGAGAGGCCTAACTGGGGGCGGGGCACAGGCGAGGCAGAGGGCTGGGGTGGGTGGGCCTGGGGGCAGGGACAGGTGGAGGCTGGCATGCAGATGAGGTGTGCCGTGGTCTGGGTCTTGGATGAGGTACCCTGCGGGTCTTGGTACTAGGCTGGGGACCAAGTGCTGCCCACCCGCCCCTTGGCTGTCTCAGGAGCCCCCGCTGCGGTGGGAGCCCCGCTGCCCCTCTTGGCAGCACCAAGCCGGCAGGAGAGGCTGGGGGACGGGCCACGTGCCAGGGTTGAGGTTGGGCCTCAGTCAGAGGCCAGGGGCAAAGCCAGGCGGGGCTCTCCTGGGGTTGAGGGTCAGGGTGGCAGAGCGTGCAGCCACCTCCGAGCTGACTCTGTGGTTGGGTTTGGGGCCTGGGGCCCGCGGGGCAACACTGACCCACTTTCCGTTTGCGGATGACCAGGTTGGGGTCGCTGAGCACCTGCTCCTCATCATCGGGGTTCAGGACCTTGCACTGCCGCAGGTAAGGTGTGATGCGTGAGGGGTCGATGACCGAGGTGAGCGTCACCCGGAAGCCCTCCAGGACGCTCCAGCACTCGTCATCGTTCTCGTAGTCCGACATGGCCTCAGCAGGCAGGCTGGGGAGTGTGGGGCAGTGCTGAGAGCGATGCCGGCTCCTGCCCCCACCCGGGCCCAGCTCCCACTCCTTCTCAGACGCTGGGCCAGGGCTCTCGTCAGGGCATCGAGGGGGATCAGCCCAGGGGCATCCAGGAGAGGTGCCCAGCTCCATGTCCCATCCCCACGCTGGATCCCCCAGGGAGGCAGCAGAGACACAGTGACCCCGCTCCCCACCAGACCAGCCGAGGGCCCCTCCGCAGCCTTTCCCAGCCCTTGCTCCTGCCCGTTGGCATCCATGTCACCCAGATACGCAGCGGGGGAGGCACAGATGGGGTCTGAGAGAGGAACTCCCCCTACAGCATGACCCCCTCTGGCCTCTGCCTCCTGGACACTCCC | pathogenic | 155,021 |
Does the variant on chromosome 9 at location 136430318 affecting gene INPP5E (inositol polyphosphate-5-phosphatase E) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_aplasia_of_the_vermis', 'INPP5E-related_disorder', 'Rod-cone_dystrophy'] | ACCACACCCGGCTAATTTTTGTAATTTTAGTAGAGATGCAGGGGTGGTCGCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATTTGCCCACCACTCAGATGATCCATCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGAGTGAGCCACCGCACCCAGCCGAATGTAGGATTTTAAAGATAGCAGAGATGAACCGGACAAGATCATAGTCAGCTGTTGAGGGTTGAGACCAAACTTTTTGCCTGTGGATTTTACAGCCTTTCAAACAAGGACATTGTGAGAACGGGATATGCATGTATATTGTTGCTTCCAGGTTTCAGTCTTTGGCCAGAAAGAGATTTTAAGACTCAATATATGCATTTATTTAAAAATATAAATATGGAAAAATAATTTAAAAGACTAGATTGAATGTCCCTAGATTTTCACACATTCAAAGACTACATTTTTTCAAGAGATGGAATGGGACACAAAGCAAGAATGAACGGTTCTATACTCTCGAAGAAAGAAACCCGGGACATGGTGGGGATCCCTGGCCTAGGTGTTCAAGGTGGTGGCATCCTGAACTTCCAGCAGTTCCCTAGCCCGGTTCCACTAATGTCATTCCGCGGCTGGAGTTAAAGAAGCAAACGGTCTACGTCACCAAGACCATGAGACGGTTTCAAAAATGGTCTACGTCACCAAGACCATGAGATGGTTTCACACAATAGGCTTGGCCTATGAGAGGAGGGGAAGCAGCTTCTTACTCAGCTGGGGAGGCCCTTATACTGGGGTGCAGGCCTCCTCGCCCCATGGCAGGCGACTTGCAGCCAAGTGGAGGGGAACCGTGCCACGTCCTGGAGGCTGTGTGGCTTCCTCAGCTGGGCTCTGGGGCCCACTCAGAGGTCTGAGGCCCCAGGGGTCACCTAGCCCAGATCCAGCCTTGCTCTGGATACCCGTGTGACATGGGGTGGTGTGTGTTTGAGGGGCTGCCAGGAGGACACAGATGGACGCCTGCTTCGGGTGTGGAGGGAGAGGCTGGTGCAGAGCACGGGGGTGTTGGGGGGCTCTGTGACTGCCCCCAGGGCACAGGAGCTGCTCAGGAACGGATTCTGACGTCTGCCCCCGAGAGTGGCTGGGGTCCGTGGTGCTGCTGGGCGGGTCCAAACCCTGCCACCCATGCTGTATGGACCTGCCATGGAGACGGGGGTCCAAGCCCTGCCCACCCACACCGTGTGGACCTGCCACAGAGGACAGGCTCGCTCAGGGTTGGCTTCCTTCCTGGGACGCTGGCACAGAGGCACGGTCGCCACAGTCCCTCGGATCCCCGAAAGGCGGCAAACTCTTTGTCCTTCCCAGTGGGTTTTGATCAATACAATCACCCCACGTTGCAGCTGTGAGTCCTCGTTCAGCAAACTTCAAGAAACGGAGCAGATGGTGCTGGAGTTCTGACTCTGTAGTGCTTGCTGCCTCTGAATCTCCTTCGAAATCCGTCTTTTAATTCCTAGTAAGTACAGTTCTCTATCAAATTTGCCAGCTGCCAACGGAATGCTGTGGAGGAGGAGGGGGCGTTAGGAGGGCACCCAGGGCCAGGAGGAGGGGGCGTTAGGAGGGGGCCGGCCCCGGAGGAGGGGGCATTTAAGAGGACACCCAGGGCCAGGATGAGGGGCTGTTAGGTGGGCACTGGCCCAGATTGGCCCTGCCTCTAAGCACACGGAGGCCTGTTCCTGGGACAGAGCCGCAGGAAGGACAGGGCGGATGCCTGAGTGCTTAAGGCCTTCGTCCCTCCAGCTGGCCACACCCAGCCCCCCAGCTGGGCCTCTCTTCACTTTCCAGAGCCTCTCCCCTTCCTGCCTTCTCCTGCTCCAGGATGAGTCCAACCGATCCCGGGGAACACAGCCCTGAAGGTCCCAGAACAAAGCCCCAAGTGGAACCCCACGATGACAGGGACCCTCTTAGCTCATGGGACGACGGCACGACCCCCAGGCCCAAGGGGGAAGGTGAGCGGGAGAACACTGACTTGTCTCGCCCCGGCCTCACTTTCACCCGGAAGAGGCCATACACAGGGCGGTGGTCGGACGTCTTGATCCCGGGGCAGGAAGAGTAGCTCACAGGACAGATGTCACCCTTGTGGCGGCTTCTGTACAAGACGCGGTCCTTTGGGAAGATTGCAGAGGCAGGAGGTCCAGTTACTTGTGAGGAGCCGTGGGGCGTGGCCCGCTCACCTCCCTGCTGTTCTCAAGCGCCCCCCACAAGGAAGCCTTCTGGGACCCCTGACACTCATGCCCATTTTGTTGCCTGGCGTCTGTGGCCAGCTGGGCCAGGGCCTGTCCCTCGCCGCTGGAGAGACCCTGTGGACAGCGGCTGCTCCTACCCTGCCCTGCCTCAGTGGCTTCTTGAGGCTTCCAGCAGATATCCAGATATCGGGACATGCCCAGAGATGCAGCCATGGGCCTGGCAGGAGGGTGAGCGAGGGTGCAACGGGCAGAGGGCAGAGGCTCTGCAGGCCGGAGGCGAGGGCATGGCTGGTGCCCTGTGTGCCAGCCGGCTCACCCAGCCTTGAAAACACCCATGGAGAGGGCGCCGTTCTCCACCAAAGGGGACTTGCCACAAGGCCAAGGTGCAGAGCTGAGTTTCAAGTCCAGGCCGTCCAGGCTCAGACCCCTGACGCCAGGCATCGGTTCCCGGCTGTGGGAGATGCCTGCCCTGGAAGCACTCTGCACCGCAGCGGTGGGCAGGCCTCACCGTGTATGAGGGCGTCCTCTGCTTGGAGGTGCTGTCGTACGTGTCCTTCCCGATGTCAAACTTGTATGATGGGAGGAAGTGGATGTCCGGCTCCTGGAAGCCCTTGAAGATGGACCCTGCCACAGGATGGGCACTCGGACTGGCTCAGACCAGCTTGTGCCAGCCGCCGCACCCCAGGCCCTCACCTCTCCTCATCTCCCACCACGCCCACCCTCCCCCCACCCGCCGCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCATGCCCGCCCCCCCAGGCCCTCACCTTTCCGCATCTCCCGGATGAGCTGGTCGTGCTGCAGCAGCGCCGGCACGTCCACCACCAGGCCCTGGCACAGGAGGGCGTCCACGACTGTGCGCCCGCCACTCAGGCGGAAGTTGAAGTCTCCAAACCAGAACACCTCATCGAAGCGGGTGGTGACGTCCGCTGCGGCACAGTGGGCCATGTGTGGGCACAGGCAGAGGGACGGCAGGTCCTTCCCCTTCCCCAGAACATGGCCTGGGAGTGGCTCTCAGGGGAAGTGGGTCTTGGGCGCCAGCCGGTGGGGCCGGGCCCTCAGGGGTGGGATTCGCACTGGGACAGTTCCAGAAGGCACCTGGAGCAGCCTCAGGAGCAGACGATGCCCATGGCAGGCGATGGCCACGTCCCTGCTCCTCTCCACACAGCCAGGGGAGGCGGCGGGGCGGGCAGTGGCGAGGACCAGGACCCAGGCTAGTGGGCCACGCCGAGTGGACAGGATCCGCCCACCCCACTAACCGTGCTAAAGAACCGCGAGGGGCCATGCGCTGGGGGCACTGGACGTTTCG | ACCACACCCGGCTAATTTTTGTAATTTTAGTAGAGATGCAGGGGTGGTCGCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATTTGCCCACCACTCAGATGATCCATCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGAGTGAGCCACCGCACCCAGCCGAATGTAGGATTTTAAAGATAGCAGAGATGAACCGGACAAGATCATAGTCAGCTGTTGAGGGTTGAGACCAAACTTTTTGCCTGTGGATTTTACAGCCTTTCAAACAAGGACATTGTGAGAACGGGATATGCATGTATATTGTTGCTTCCAGGTTTCAGTCTTTGGCCAGAAAGAGATTTTAAGACTCAATATATGCATTTATTTAAAAATATAAATATGGAAAAATAATTTAAAAGACTAGATTGAATGTCCCTAGATTTTCACACATTCAAAGACTACATTTTTTCAAGAGATGGAATGGGACACAAAGCAAGAATGAACGGTTCTATACTCTCGAAGAAAGAAACCCGGGACATGGTGGGGATCCCTGGCCTAGGTGTTCAAGGTGGTGGCATCCTGAACTTCCAGCAGTTCCCTAGCCCGGTTCCACTAATGTCATTCCGCGGCTGGAGTTAAAGAAGCAAACGGTCTACGTCACCAAGACCATGAGACGGTTTCAAAAATGGTCTACGTCACCAAGACCATGAGATGGTTTCACACAATAGGCTTGGCCTATGAGAGGAGGGGAAGCAGCTTCTTACTCAGCTGGGGAGGCCCTTATACTGGGGTGCAGGCCTCCTCGCCCCATGGCAGGCGACTTGCAGCCAAGTGGAGGGGAACCGTGCCACGTCCTGGAGGCTGTGTGGCTTCCTCAGCTGGGCTCTGGGGCCCACTCAGAGGTCTGAGGCCCCAGGGGTCACCTAGCCCAGATCCAGCCTTGCTCTGGATACCCGTGTGACATGGGGTGGTGTGTGTTTGAGGGGCTGCCAGGAGGACACAGATGGACGCCTGCTTCGGGTGTGGAGGGAGAGGCTGGTGCAGAGCACGGGGGTGTTGGGGGGCTCTGTGACTGCCCCCAGGGCACAGGAGCTGCTCAGGAACGGATTCTGACGTCTGCCCCCGAGAGTGGCTGGGGTCCGTGGTGCTGCTGGGCGGGTCCAAACCCTGCCACCCATGCTGTATGGACCTGCCATGGAGACGGGGGTCCAAGCCCTGCCCACCCACACCGTGTGGACCTGCCACAGAGGACAGGCTCGCTCAGGGTTGGCTTCCTTCCTGGGACGCTGGCACAGAGGCACGGTCGCCACAGTCCCTCGGATCCCCGAAAGGCGGCAAACTCTTTGTCCTTCCCAGTGGGTTTTGATCAATACAATCACCCCACGTTGCAGCTGTGAGTCCTCGTTCAGCAAACTTCAAGAAACGGAGCAGATGGTGCTGGAGTTCTGACTCTGTAGTGCTTGCTGCCTCTGAATCTCCTTCGAAATCCGTCTTTTAATTCCTAGTAAGTACAGTTCTCTATCAAATTTGCCAGCTGCCAACGGAATGCTGTGGAGGAGGAGGGGGCGTTAGGAGGGCACCCAGGGCCAGGAGGAGGGGGCGTTAGGAGGGGGCCGGCCCCGGAGGAGGGGGCATTTAAGAGGACACCCAGGGCCAGGATGAGGGGCTGTTAGGTGGGCACTGGCCCAGATTGGCCCTGCCTCTAAGCACACGGAGGCCTGTTCCTGGGACAGAGCCGCAGGAAGGACAGGGCGGATGCCTGAGTGCTTAAGGCCTTCGTCCCTCCAGCTGGCCACACCCAGCCCCCCAGCTGGGCCTCTCTTCACTTTCCAGAGCCTCTCCCCTTCCTGCCTTCTCCTGCTCCAGGATGAGTCCAACCGATCCCGGGGAACACAGCCCTGAAGGTCCCAGAACAAAGCCCCAAGTGGAACCCCACGATGACAGGGACCCTCTTAGCTCATGGGACGACGGCACGACCCCCAGGCCCAAGGGGGAAGGTGAGCGGGAGAACACTGACTTGTCTCGCCCCGGCCTCACTTTCACCCGGAAGAGGCCATACCAGGGCGGTGGTCGGACGTCTTGATCCCGGGGCAGGAAGAGTAGCTCACAGGACAGATGTCACCCTTGTGGCGGCTTCTGTACAAGACGCGGTCCTTTGGGAAGATTGCAGAGGCAGGAGGTCCAGTTACTTGTGAGGAGCCGTGGGGCGTGGCCCGCTCACCTCCCTGCTGTTCTCAAGCGCCCCCCACAAGGAAGCCTTCTGGGACCCCTGACACTCATGCCCATTTTGTTGCCTGGCGTCTGTGGCCAGCTGGGCCAGGGCCTGTCCCTCGCCGCTGGAGAGACCCTGTGGACAGCGGCTGCTCCTACCCTGCCCTGCCTCAGTGGCTTCTTGAGGCTTCCAGCAGATATCCAGATATCGGGACATGCCCAGAGATGCAGCCATGGGCCTGGCAGGAGGGTGAGCGAGGGTGCAACGGGCAGAGGGCAGAGGCTCTGCAGGCCGGAGGCGAGGGCATGGCTGGTGCCCTGTGTGCCAGCCGGCTCACCCAGCCTTGAAAACACCCATGGAGAGGGCGCCGTTCTCCACCAAAGGGGACTTGCCACAAGGCCAAGGTGCAGAGCTGAGTTTCAAGTCCAGGCCGTCCAGGCTCAGACCCCTGACGCCAGGCATCGGTTCCCGGCTGTGGGAGATGCCTGCCCTGGAAGCACTCTGCACCGCAGCGGTGGGCAGGCCTCACCGTGTATGAGGGCGTCCTCTGCTTGGAGGTGCTGTCGTACGTGTCCTTCCCGATGTCAAACTTGTATGATGGGAGGAAGTGGATGTCCGGCTCCTGGAAGCCCTTGAAGATGGACCCTGCCACAGGATGGGCACTCGGACTGGCTCAGACCAGCTTGTGCCAGCCGCCGCACCCCAGGCCCTCACCTCTCCTCATCTCCCACCACGCCCACCCTCCCCCCACCCGCCGCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCATGCCCGCCCCCCCAGGCCCTCACCTTTCCGCATCTCCCGGATGAGCTGGTCGTGCTGCAGCAGCGCCGGCACGTCCACCACCAGGCCCTGGCACAGGAGGGCGTCCACGACTGTGCGCCCGCCACTCAGGCGGAAGTTGAAGTCTCCAAACCAGAACACCTCATCGAAGCGGGTGGTGACGTCCGCTGCGGCACAGTGGGCCATGTGTGGGCACAGGCAGAGGGACGGCAGGTCCTTCCCCTTCCCCAGAACATGGCCTGGGAGTGGCTCTCAGGGGAAGTGGGTCTTGGGCGCCAGCCGGTGGGGCCGGGCCCTCAGGGGTGGGATTCGCACTGGGACAGTTCCAGAAGGCACCTGGAGCAGCCTCAGGAGCAGACGATGCCCATGGCAGGCGATGGCCACGTCCCTGCTCCTCTCCACACAGCCAGGGGAGGCGGCGGGGCGGGCAGTGGCGAGGACCAGGACCCAGGCTAGTGGGCCACGCCGAGTGGACAGGATCCGCCCACCCCACTAACCGTGCTAAAGAACCGCGAGGGGCCATGCGCTGGGGGCACTGGACGTTTCGN | pathogenic | 155,080 |
A mutation at chromosome position 136431806 on chromosome 9 in gene INPP5E (inositol polyphosphate-5-phosphatase E): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | TTCCTAGTAAGTACAGTTCTCTATCAAATTTGCCAGCTGCCAACGGAATGCTGTGGAGGAGGAGGGGGCGTTAGGAGGGCACCCAGGGCCAGGAGGAGGGGGCGTTAGGAGGGGGCCGGCCCCGGAGGAGGGGGCATTTAAGAGGACACCCAGGGCCAGGATGAGGGGCTGTTAGGTGGGCACTGGCCCAGATTGGCCCTGCCTCTAAGCACACGGAGGCCTGTTCCTGGGACAGAGCCGCAGGAAGGACAGGGCGGATGCCTGAGTGCTTAAGGCCTTCGTCCCTCCAGCTGGCCACACCCAGCCCCCCAGCTGGGCCTCTCTTCACTTTCCAGAGCCTCTCCCCTTCCTGCCTTCTCCTGCTCCAGGATGAGTCCAACCGATCCCGGGGAACACAGCCCTGAAGGTCCCAGAACAAAGCCCCAAGTGGAACCCCACGATGACAGGGACCCTCTTAGCTCATGGGACGACGGCACGACCCCCAGGCCCAAGGGGGAAGGTGAGCGGGAGAACACTGACTTGTCTCGCCCCGGCCTCACTTTCACCCGGAAGAGGCCATACACAGGGCGGTGGTCGGACGTCTTGATCCCGGGGCAGGAAGAGTAGCTCACAGGACAGATGTCACCCTTGTGGCGGCTTCTGTACAAGACGCGGTCCTTTGGGAAGATTGCAGAGGCAGGAGGTCCAGTTACTTGTGAGGAGCCGTGGGGCGTGGCCCGCTCACCTCCCTGCTGTTCTCAAGCGCCCCCCACAAGGAAGCCTTCTGGGACCCCTGACACTCATGCCCATTTTGTTGCCTGGCGTCTGTGGCCAGCTGGGCCAGGGCCTGTCCCTCGCCGCTGGAGAGACCCTGTGGACAGCGGCTGCTCCTACCCTGCCCTGCCTCAGTGGCTTCTTGAGGCTTCCAGCAGATATCCAGATATCGGGACATGCCCAGAGATGCAGCCATGGGCCTGGCAGGAGGGTGAGCGAGGGTGCAACGGGCAGAGGGCAGAGGCTCTGCAGGCCGGAGGCGAGGGCATGGCTGGTGCCCTGTGTGCCAGCCGGCTCACCCAGCCTTGAAAACACCCATGGAGAGGGCGCCGTTCTCCACCAAAGGGGACTTGCCACAAGGCCAAGGTGCAGAGCTGAGTTTCAAGTCCAGGCCGTCCAGGCTCAGACCCCTGACGCCAGGCATCGGTTCCCGGCTGTGGGAGATGCCTGCCCTGGAAGCACTCTGCACCGCAGCGGTGGGCAGGCCTCACCGTGTATGAGGGCGTCCTCTGCTTGGAGGTGCTGTCGTACGTGTCCTTCCCGATGTCAAACTTGTATGATGGGAGGAAGTGGATGTCCGGCTCCTGGAAGCCCTTGAAGATGGACCCTGCCACAGGATGGGCACTCGGACTGGCTCAGACCAGCTTGTGCCAGCCGCCGCACCCCAGGCCCTCACCTCTCCTCATCTCCCACCACGCCCACCCTCCCCCCACCCGCCGCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCATGCCCGCCCCCCCAGGCCCTCACCTTTCCGCATCTCCCGGATGAGCTGGTCGTGCTGCAGCAGCGCCGGCACGTCCACCACCAGGCCCTGGCACAGGAGGGCGTCCACGACTGTGCGCCCGCCACTCAGGCGGAAGTTGAAGTCTCCAAACCAGAACACCTCATCGAAGCGGGTGGTGACGTCCGCTGCGGCACAGTGGGCCATGTGTGGGCACAGGCAGAGGGACGGCAGGTCCTTCCCCTTCCCCAGAACATGGCCTGGGAGTGGCTCTCAGGGGAAGTGGGTCTTGGGCGCCAGCCGGTGGGGCCGGGCCCTCAGGGGTGGGATTCGCACTGGGACAGTTCCAGAAGGCACCTGGAGCAGCCTCAGGAGCAGACGATGCCCATGGCAGGCGATGGCCACGTCCCTGCTCCTCTCCACACAGCCAGGGGAGGCGGCGGGGCGGGCAGTGGCGAGGACCAGGACCCAGGCTAGTGGGCCACGCCGAGTGGACAGGATCCGCCCACCCCACTAACCGTGCTAAAGAACCGCGAGGGGCCATGCGCTGGGGGCACTGGACGTTTCGGCCCTCGCTTCCCAAAGCTCAGGACGCTGCCTCTTCAGAACTGCCCTAAAAACGACGGGCGCCCGTGTGCGAACCACGGCGGCACCACCCACACGCAGCGTGGACGCCCTCACCTGCGCTGGAGCGATAGGGGTTGGTGTCGGGCACATTTCTGGGCAGGACCAGGGCTTGTACAGTCCTGGTGTAGTCCAGCAGCCGCTCCGCCACCTTCCCGTCACCTGCTGTGGGAACAGAAATGGGGTAGGGACCACAGGGTTCCGGATGCTCGAGTCTCCCTAAAGCGCCGCACCTCTGGACTGTGCCCTGACTGCGCACCCCCGGCAGACGCAACCCCACCGGGCATCCGCTGCCGGGCCCAGCCAGTGACATTTCCGCCTCGGAGGACAGAGCACGGGCCCAGCACGGCACGCCCTCGGTGCCGGGGTCTGCCGGGGGTCCTTGGCGTGCATCTTAGCAAGCGTGGTGCCCACCCCACGGCCCTGGGTGGAAGATGAAGCCAGCGGTCAGGACCCCTGCCTTGGACAGGGTCCCGGTCAGGAGAGGAAGCTGTTCTCACACAGCACCTGCGGTGCGGGCACCAAGCAACTTACAGGTGAAGTGGGACGTGATGAAGAGGAAGGAAGTGCCAAAAAAGGTGAAGCTGATGCCCAAGGCCCCCTTGGTCTTGATCTGAGACACGATGCGTGTGGTCACCGTGGAGCACTCCACCTCTGTGGGAGGGGCAGCCCTCAGCTCACCTGTGGGACGCTGCCACCTTCCAGCCGCGCCCACCCCTCCAGCCGCGCCCACCTGAGCAGAACCAGATGAGGTCCCTGCGGATGAAGAGCGACATGTAGAGCACGCCGTGGGCCGCCGAGGACAGCAGCACATAGTGCGGGCCCAGCGTCTCCTGCAGACGAGTCTCCCACTCCCGCCTGCAGAGGAGGAAGCACGGCCGGCTGGGGGACATGGCCTCCCAGCTCCGCCACCCCCAGACCTGCTGCCCAGAGCCCCTCGAGGAGCTACCAGGGAAACCCCACGACCTGGCCTTGGTGTCTTGCGCGGAGAAGCAATTGCCAGAAGGCCTGGTGGGCCAGAGTTGGGACCTGCCGGGGGCCACAGGCCCCAGTTCCACTTGAGTGGCTCCCCTGGACCCCCGCCGAGACCCCAGTGAGCAGAGCTCCTCCCGCCTGAGGGACTCATGGGCCAGGGAGGTGGGGCCCACCTCAACTCCTTCCCCCAGAGCACCTGTGTGGGCGGCAGCCACCTGCTGTTCCCGCCATGACATGGGGGCCCGGGAGGCCTTGGGGCCCGGCCCTGCTCCGGCTGCCCTTCTACTCTCGCACGCCAACAGTTTGTTACCAAAATCAAATCTCATTGATTTTAAACTCTCCGAGTTGCCACTGGAAAAAAATCTGACCCATGCCTCCCACCCAGGCGTGGAGGCTGCCCGTGCCCGGCCGCCACCCGGGTCTCAGCGCCCAGCAGCTTCAGAGACGGCAGCCCCCG | TTCCTAGTAAGTACAGTTCTCTATCAAATTTGCCAGCTGCCAACGGAATGCTGTGGAGGAGGAGGGGGCGTTAGGAGGGCACCCAGGGCCAGGAGGAGGGGGCGTTAGGAGGGGGCCGGCCCCGGAGGAGGGGGCATTTAAGAGGACACCCAGGGCCAGGATGAGGGGCTGTTAGGTGGGCACTGGCCCAGATTGGCCCTGCCTCTAAGCACACGGAGGCCTGTTCCTGGGACAGAGCCGCAGGAAGGACAGGGCGGATGCCTGAGTGCTTAAGGCCTTCGTCCCTCCAGCTGGCCACACCCAGCCCCCCAGCTGGGCCTCTCTTCACTTTCCAGAGCCTCTCCCCTTCCTGCCTTCTCCTGCTCCAGGATGAGTCCAACCGATCCCGGGGAACACAGCCCTGAAGGTCCCAGAACAAAGCCCCAAGTGGAACCCCACGATGACAGGGACCCTCTTAGCTCATGGGACGACGGCACGACCCCCAGGCCCAAGGGGGAAGGTGAGCGGGAGAACACTGACTTGTCTCGCCCCGGCCTCACTTTCACCCGGAAGAGGCCATACACAGGGCGGTGGTCGGACGTCTTGATCCCGGGGCAGGAAGAGTAGCTCACAGGACAGATGTCACCCTTGTGGCGGCTTCTGTACAAGACGCGGTCCTTTGGGAAGATTGCAGAGGCAGGAGGTCCAGTTACTTGTGAGGAGCCGTGGGGCGTGGCCCGCTCACCTCCCTGCTGTTCTCAAGCGCCCCCCACAAGGAAGCCTTCTGGGACCCCTGACACTCATGCCCATTTTGTTGCCTGGCGTCTGTGGCCAGCTGGGCCAGGGCCTGTCCCTCGCCGCTGGAGAGACCCTGTGGACAGCGGCTGCTCCTACCCTGCCCTGCCTCAGTGGCTTCTTGAGGCTTCCAGCAGATATCCAGATATCGGGACATGCCCAGAGATGCAGCCATGGGCCTGGCAGGAGGGTGAGCGAGGGTGCAACGGGCAGAGGGCAGAGGCTCTGCAGGCCGGAGGCGAGGGCATGGCTGGTGCCCTGTGTGCCAGCCGGCTCACCCAGCCTTGAAAACACCCATGGAGAGGGCGCCGTTCTCCACCAAAGGGGACTTGCCACAAGGCCAAGGTGCAGAGCTGAGTTTCAAGTCCAGGCCGTCCAGGCTCAGACCCCTGACGCCAGGCATCGGTTCCCGGCTGTGGGAGATGCCTGCCCTGGAAGCACTCTGCACCGCAGCGGTGGGCAGGCCTCACCGTGTATGAGGGCGTCCTCTGCTTGGAGGTGCTGTCGTACGTGTCCTTCCCGATGTCAAACTTGTATGATGGGAGGAAGTGGATGTCCGGCTCCTGGAAGCCCTTGAAGATGGACCCTGCCACAGGATGGGCACTCGGACTGGCTCAGACCAGCTTGTGCCAGCCGCCGCACCCCAGGCCCTCACCTCTCCTCATCTCCCACCACGCCCACCCTCCCCCCACCCGCCGCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCATGCCCGCCCCCCAGGCCCTCACCTTTCCGCATCTCCCGGATGAGCTGGTCGTGCTGCAGCAGCGCCGGCACGTCCACCACCAGGCCCTGGCACAGGAGGGCGTCCACGACTGTGCGCCCGCCACTCAGGCGGAAGTTGAAGTCTCCAAACCAGAACACCTCATCGAAGCGGGTGGTGACGTCCGCTGCGGCACAGTGGGCCATGTGTGGGCACAGGCAGAGGGACGGCAGGTCCTTCCCCTTCCCCAGAACATGGCCTGGGAGTGGCTCTCAGGGGAAGTGGGTCTTGGGCGCCAGCCGGTGGGGCCGGGCCCTCAGGGGTGGGATTCGCACTGGGACAGTTCCAGAAGGCACCTGGAGCAGCCTCAGGAGCAGACGATGCCCATGGCAGGCGATGGCCACGTCCCTGCTCCTCTCCACACAGCCAGGGGAGGCGGCGGGGCGGGCAGTGGCGAGGACCAGGACCCAGGCTAGTGGGCCACGCCGAGTGGACAGGATCCGCCCACCCCACTAACCGTGCTAAAGAACCGCGAGGGGCCATGCGCTGGGGGCACTGGACGTTTCGGCCCTCGCTTCCCAAAGCTCAGGACGCTGCCTCTTCAGAACTGCCCTAAAAACGACGGGCGCCCGTGTGCGAACCACGGCGGCACCACCCACACGCAGCGTGGACGCCCTCACCTGCGCTGGAGCGATAGGGGTTGGTGTCGGGCACATTTCTGGGCAGGACCAGGGCTTGTACAGTCCTGGTGTAGTCCAGCAGCCGCTCCGCCACCTTCCCGTCACCTGCTGTGGGAACAGAAATGGGGTAGGGACCACAGGGTTCCGGATGCTCGAGTCTCCCTAAAGCGCCGCACCTCTGGACTGTGCCCTGACTGCGCACCCCCGGCAGACGCAACCCCACCGGGCATCCGCTGCCGGGCCCAGCCAGTGACATTTCCGCCTCGGAGGACAGAGCACGGGCCCAGCACGGCACGCCCTCGGTGCCGGGGTCTGCCGGGGGTCCTTGGCGTGCATCTTAGCAAGCGTGGTGCCCACCCCACGGCCCTGGGTGGAAGATGAAGCCAGCGGTCAGGACCCCTGCCTTGGACAGGGTCCCGGTCAGGAGAGGAAGCTGTTCTCACACAGCACCTGCGGTGCGGGCACCAAGCAACTTACAGGTGAAGTGGGACGTGATGAAGAGGAAGGAAGTGCCAAAAAAGGTGAAGCTGATGCCCAAGGCCCCCTTGGTCTTGATCTGAGACACGATGCGTGTGGTCACCGTGGAGCACTCCACCTCTGTGGGAGGGGCAGCCCTCAGCTCACCTGTGGGACGCTGCCACCTTCCAGCCGCGCCCACCCCTCCAGCCGCGCCCACCTGAGCAGAACCAGATGAGGTCCCTGCGGATGAAGAGCGACATGTAGAGCACGCCGTGGGCCGCCGAGGACAGCAGCACATAGTGCGGGCCCAGCGTCTCCTGCAGACGAGTCTCCCACTCCCGCCTGCAGAGGAGGAAGCACGGCCGGCTGGGGGACATGGCCTCCCAGCTCCGCCACCCCCAGACCTGCTGCCCAGAGCCCCTCGAGGAGCTACCAGGGAAACCCCACGACCTGGCCTTGGTGTCTTGCGCGGAGAAGCAATTGCCAGAAGGCCTGGTGGGCCAGAGTTGGGACCTGCCGGGGGCCACAGGCCCCAGTTCCACTTGAGTGGCTCCCCTGGACCCCCGCCGAGACCCCAGTGAGCAGAGCTCCTCCCGCCTGAGGGACTCATGGGCCAGGGAGGTGGGGCCCACCTCAACTCCTTCCCCCAGAGCACCTGTGTGGGCGGCAGCCACCTGCTGTTCCCGCCATGACATGGGGGCCCGGGAGGCCTTGGGGCCCGGCCCTGCTCCGGCTGCCCTTCTACTCTCGCACGCCAACAGTTTGTTACCAAAATCAAATCTCATTGATTTTAAACTCTCCGAGTTGCCACTGGAAAAAAATCTGACCCATGCCTCCCACCCAGGCGTGGAGGCTGCCCGTGCCCGGCCGCCACCCGGGTCTCAGCGCCCAGCAGCTTCAGAGACGGCAGCCCCCGN | benign | 155,096 |
The genetic variant at chromosome 9, position 136433146, affecting gene INPP5E (inositol polyphosphate-5-phosphatase E): benign or pathogenic? Disease name(s) if pathogenic? | benign | GAAGCCCTTGAAGATGGACCCTGCCACAGGATGGGCACTCGGACTGGCTCAGACCAGCTTGTGCCAGCCGCCGCACCCCAGGCCCTCACCTCTCCTCATCTCCCACCACGCCCACCCTCCCCCCACCCGCCGCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCATGCCCGCCCCCCCAGGCCCTCACCTTTCCGCATCTCCCGGATGAGCTGGTCGTGCTGCAGCAGCGCCGGCACGTCCACCACCAGGCCCTGGCACAGGAGGGCGTCCACGACTGTGCGCCCGCCACTCAGGCGGAAGTTGAAGTCTCCAAACCAGAACACCTCATCGAAGCGGGTGGTGACGTCCGCTGCGGCACAGTGGGCCATGTGTGGGCACAGGCAGAGGGACGGCAGGTCCTTCCCCTTCCCCAGAACATGGCCTGGGAGTGGCTCTCAGGGGAAGTGGGTCTTGGGCGCCAGCCGGTGGGGCCGGGCCCTCAGGGGTGGGATTCGCACTGGGACAGTTCCAGAAGGCACCTGGAGCAGCCTCAGGAGCAGACGATGCCCATGGCAGGCGATGGCCACGTCCCTGCTCCTCTCCACACAGCCAGGGGAGGCGGCGGGGCGGGCAGTGGCGAGGACCAGGACCCAGGCTAGTGGGCCACGCCGAGTGGACAGGATCCGCCCACCCCACTAACCGTGCTAAAGAACCGCGAGGGGCCATGCGCTGGGGGCACTGGACGTTTCGGCCCTCGCTTCCCAAAGCTCAGGACGCTGCCTCTTCAGAACTGCCCTAAAAACGACGGGCGCCCGTGTGCGAACCACGGCGGCACCACCCACACGCAGCGTGGACGCCCTCACCTGCGCTGGAGCGATAGGGGTTGGTGTCGGGCACATTTCTGGGCAGGACCAGGGCTTGTACAGTCCTGGTGTAGTCCAGCAGCCGCTCCGCCACCTTCCCGTCACCTGCTGTGGGAACAGAAATGGGGTAGGGACCACAGGGTTCCGGATGCTCGAGTCTCCCTAAAGCGCCGCACCTCTGGACTGTGCCCTGACTGCGCACCCCCGGCAGACGCAACCCCACCGGGCATCCGCTGCCGGGCCCAGCCAGTGACATTTCCGCCTCGGAGGACAGAGCACGGGCCCAGCACGGCACGCCCTCGGTGCCGGGGTCTGCCGGGGGTCCTTGGCGTGCATCTTAGCAAGCGTGGTGCCCACCCCACGGCCCTGGGTGGAAGATGAAGCCAGCGGTCAGGACCCCTGCCTTGGACAGGGTCCCGGTCAGGAGAGGAAGCTGTTCTCACACAGCACCTGCGGTGCGGGCACCAAGCAACTTACAGGTGAAGTGGGACGTGATGAAGAGGAAGGAAGTGCCAAAAAAGGTGAAGCTGATGCCCAAGGCCCCCTTGGTCTTGATCTGAGACACGATGCGTGTGGTCACCGTGGAGCACTCCACCTCTGTGGGAGGGGCAGCCCTCAGCTCACCTGTGGGACGCTGCCACCTTCCAGCCGCGCCCACCCCTCCAGCCGCGCCCACCTGAGCAGAACCAGATGAGGTCCCTGCGGATGAAGAGCGACATGTAGAGCACGCCGTGGGCCGCCGAGGACAGCAGCACATAGTGCGGGCCCAGCGTCTCCTGCAGACGAGTCTCCCACTCCCGCCTGCAGAGGAGGAAGCACGGCCGGCTGGGGGACATGGCCTCCCAGCTCCGCCACCCCCAGACCTGCTGCCCAGAGCCCCTCGAGGAGCTACCAGGGAAACCCCACGACCTGGCCTTGGTGTCTTGCGCGGAGAAGCAATTGCCAGAAGGCCTGGTGGGCCAGAGTTGGGACCTGCCGGGGGCCACAGGCCCCAGTTCCACTTGAGTGGCTCCCCTGGACCCCCGCCGAGACCCCAGTGAGCAGAGCTCCTCCCGCCTGAGGGACTCATGGGCCAGGGAGGTGGGGCCCACCTCAACTCCTTCCCCCAGAGCACCTGTGTGGGCGGCAGCCACCTGCTGTTCCCGCCATGACATGGGGGCCCGGGAGGCCTTGGGGCCCGGCCCTGCTCCGGCTGCCCTTCTACTCTCGCACGCCAACAGTTTGTTACCAAAATCAAATCTCATTGATTTTAAACTCTCCGAGTTGCCACTGGAAAAAAATCTGACCCATGCCTCCCACCCAGGCGTGGAGGCTGCCCGTGCCCGGCCGCCACCCGGGTCTCAGCGCCCAGCAGCTTCAGAGACGGCAGCCCCCGGGCAGGCACTGCAGATCTGTGCCCGGCCACGAACCGGGTATCAGCGCCCAGCAGCTTCACAGATGGCAGCCCCCGGGCAGGCACTGCAGACCCGTGCCCAGCCATGACCACAGGTCTCAGCACCCAGCTGCTTCAGAGACGGCAGCCCCTGGGCAGGCACTGCAGGGCCTGCAGCCGCCCTACCTGTCAGAACAGCCCTCCTGGACCCCGATGACATACAGGTCCTGGGCATAGTCGGCCTCGGCTGGGAGCAGGAACTCGTCCAGGCTGGGCGGGAGCTCCTGGAAGGAGGGAGCATGTGGTGGGCCGGCTCCTCCCGAAACCTGCAGGCGCCTGTGGGTGAATCCCACTGCGGTGCCTTGAGTACCAGCGACTCCTCCGAATGAGGGGAAACTGAGGCCAGGGCCAAAAAGGGAGCTGCCCGGTCTCCGAGGCAGCCTCTGACACACCAAACACGCCTCACGTTGGCCCTCGGCCTGTTTCCCTCTCCAAGCACGAGTCTGTCCAACGACCACCCCTGTATGACCCTCCCGTCACCATGACCCCAGCCCGTGCTGCCCACCCTGTCCCTGAGCCACCCCTACGCGTGCCCCGCTGGCCGCCCTCCCGCTCACCTTGAGCAGGTGATTCTCGGCCAGGCCCGTTGCCCCAACCCCCTCCCCTACTTTCTGCAGCCACGTGGCCAGGGAGGTGCAGGTGGGAGCTCTGGGGGATGGGGGTCCTTACCCACTCTCACCCTCCTGTACTGCGGTTAGCAGTGGGGTGCACCTCGGGGCTCTGCCCTCCTGGCCCCAGGATGAGGCACAGAGCTGCCCCGTCCCCCTCACCCGCCTTTGTCCAGCACCACCCCACCCTTCCCCGCCCAGCACCACCCACAGCCACTCACCTTCTGGCCCTGCATGTTCCAGGTGGCCACGAAGAGTGCCACGTTCCGGTCTGGGAAGTAGCGGGCCAGCTCATCCGCCCCCAACAGGGCCCCGCTGGCCAGGAGGCTGCCCTCCAGGTAACTCCTGTGACGGGAGGACCCCAAGCTCAGGGCCAGGCACAGGACACATCCCTGGGGGTCTGGGCCAGGTCCCCAGGGACAATAGCAAAACCCATGGAATGTCAGGAGCTGCCCCCAGCCCCAAGCAAGGACTCTCCTGGCCCCCGCGGCACTGCTGTCTGCTCTCCAGGAACACAAGGCCTGACCTGGTTGCACAAACACCCAGAGCGGGTTCACACCCCCTCCCTACCTCCCGGGAAGAGGCATGAGAGGGTGACGGTTTGGGCTTTTTGGTGGTGGGATCCTGGAAAAGCCACAGAGAGGAGCTCCCAAACTATAAGCCAAGGCAGTGGGC | GAAGCCCTTGAAGATGGACCCTGCCACAGGATGGGCACTCGGACTGGCTCAGACCAGCTTGTGCCAGCCGCCGCACCCCAGGCCCTCACCTCTCCTCATCTCCCACCACGCCCACCCTCCCCCCACCCGCCGCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCATGCCCGCCCCCCCAGGCCCTCACCTTTCCGCATCTCCCGGATGAGCTGGTCGTGCTGCAGCAGCGCCGGCACGTCCACCACCAGGCCCTGGCACAGGAGGGCGTCCACGACTGTGCGCCCGCCACTCAGGCGGAAGTTGAAGTCTCCAAACCAGAACACCTCATCGAAGCGGGTGGTGACGTCCGCTGCGGCACAGTGGGCCATGTGTGGGCACAGGCAGAGGGACGGCAGGTCCTTCCCCTTCCCCAGAACATGGCCTGGGAGTGGCTCTCAGGGGAAGTGGGTCTTGGGCGCCAGCCGGTGGGGCCGGGCCCTCAGGGGTGGGATTCGCACTGGGACAGTTCCAGAAGGCACCTGGAGCAGCCTCAGGAGCAGACGATGCCCATGGCAGGCGATGGCCACGTCCCTGCTCCTCTCCACACAGCCAGGGGAGGCGGCGGGGCGGGCAGTGGCGAGGACCAGGACCCAGGCTAGTGGGCCACGCCGAGTGGACAGGATCCGCCCACCCCACTAACCGTGCTAAAGAACCGCGAGGGGCCATGCGCTGGGGGCACTGGACGTTTCGGCCCTCGCTTCCCAAAGCTCAGGACGCTGCCTCTTCAGAACTGCCCTAAAAACGACGGGCGCCCGTGTGCGAACCACGGCGGCACCACCCACACGCAGCGTGGACGCCCTCACCTGCGCTGGAGCGATAGGGGTTGGTGTCGGGCACATTTCTGGGCAGGACCAGGGCTTGTACAGTCCTGGTGTAGTCCAGCAGCCGCTCCGCCACCTTCCCGTCACCTGCTGTGGGAACAGAAATGGGGTAGGGACCACAGGGTTCCGGATGCTCGAGTCTCCCTAAAGCGCCGCACCTCTGGACTGTGCCCTGACTGCGCACCCCCGGCAGACGCAACCCCACCGGGCATCCGCTGCCGGGCCCAGCCAGTGACATTTCCGCCTCGGAGGACAGAGCACGGGCCCAGCACGGCACGCCCTCGGTGCCGGGGTCTGCCGGGGGTCCTTGGCGTGCATCTTAGCAAGCGTGGTGCCCACCCCACGGCCCTGGGTGGAAGATGAAGCCAGCGGTCAGGACCCCTGCCTTGGACAGGGTCCCGGTCAGGAGAGGAAGCTGTTCTCACACAGCACCTGCGGTGCGGGCACCAAGCAACTTACAGGTGAAGTGGGACGTGATGAAGAGGAAGGAAGTGCCAAAAAAGGTGAAGCTGATGCCCAAGGCCCCCTTGGTCTTGATCTGAGACACGATGCGTGTGGTCACCGTGGAGCACTCCACCTCTGTGGGAGGGGCAGCCCTCAGCTCACCTGTGGGACGCTGCCACCTTCCAGCCGCGCCCACCCCTCCAGCCGCGCCCACCCCTCCAGCTGCGCCCACCTGAGCAGAACCAGATGAGGTCCCTGCGGATGAAGAGCGACATGTAGAGCACGCCGTGGGCCGCCGAGGACAGCAGCACATAGTGCGGGCCCAGCGTCTCCTGCAGACGAGTCTCCCACTCCCGCCTGCAGAGGAGGAAGCACGGCCGGCTGGGGGACATGGCCTCCCAGCTCCGCCACCCCCAGACCTGCTGCCCAGAGCCCCTCGAGGAGCTACCAGGGAAACCCCACGACCTGGCCTTGGTGTCTTGCGCGGAGAAGCAATTGCCAGAAGGCCTGGTGGGCCAGAGTTGGGACCTGCCGGGGGCCACAGGCCCCAGTTCCACTTGAGTGGCTCCCCTGGACCCCCGCCGAGACCCCAGTGAGCAGAGCTCCTCCCGCCTGAGGGACTCATGGGCCAGGGAGGTGGGGCCCACCTCAACTCCTTCCCCCAGAGCACCTGTGTGGGCGGCAGCCACCTGCTGTTCCCGCCATGACATGGGGGCCCGGGAGGCCTTGGGGCCCGGCCCTGCTCCGGCTGCCCTTCTACTCTCGCACGCCAACAGTTTGTTACCAAAATCAAATCTCATTGATTTTAAACTCTCCGAGTTGCCACTGGAAAAAAATCTGACCCATGCCTCCCACCCAGGCGTGGAGGCTGCCCGTGCCCGGCCGCCACCCGGGTCTCAGCGCCCAGCAGCTTCAGAGACGGCAGCCCCCGGGCAGGCACTGCAGATCTGTGCCCGGCCACGAACCGGGTATCAGCGCCCAGCAGCTTCACAGATGGCAGCCCCCGGGCAGGCACTGCAGACCCGTGCCCAGCCATGACCACAGGTCTCAGCACCCAGCTGCTTCAGAGACGGCAGCCCCTGGGCAGGCACTGCAGGGCCTGCAGCCGCCCTACCTGTCAGAACAGCCCTCCTGGACCCCGATGACATACAGGTCCTGGGCATAGTCGGCCTCGGCTGGGAGCAGGAACTCGTCCAGGCTGGGCGGGAGCTCCTGGAAGGAGGGAGCATGTGGTGGGCCGGCTCCTCCCGAAACCTGCAGGCGCCTGTGGGTGAATCCCACTGCGGTGCCTTGAGTACCAGCGACTCCTCCGAATGAGGGGAAACTGAGGCCAGGGCCAAAAAGGGAGCTGCCCGGTCTCCGAGGCAGCCTCTGACACACCAAACACGCCTCACGTTGGCCCTCGGCCTGTTTCCCTCTCCAAGCACGAGTCTGTCCAACGACCACCCCTGTATGACCCTCCCGTCACCATGACCCCAGCCCGTGCTGCCCACCCTGTCCCTGAGCCACCCCTACGCGTGCCCCGCTGGCCGCCCTCCCGCTCACCTTGAGCAGGTGATTCTCGGCCAGGCCCGTTGCCCCAACCCCCTCCCCTACTTTCTGCAGCCACGTGGCCAGGGAGGTGCAGGTGGGAGCTCTGGGGGATGGGGGTCCTTACCCACTCTCACCCTCCTGTACTGCGGTTAGCAGTGGGGTGCACCTCGGGGCTCTGCCCTCCTGGCCCCAGGATGAGGCACAGAGCTGCCCCGTCCCCCTCACCCGCCTTTGTCCAGCACCACCCCACCCTTCCCCGCCCAGCACCACCCACAGCCACTCACCTTCTGGCCCTGCATGTTCCAGGTGGCCACGAAGAGTGCCACGTTCCGGTCTGGGAAGTAGCGGGCCAGCTCATCCGCCCCCAACAGGGCCCCGCTGGCCAGGAGGCTGCCCTCCAGGTAACTCCTGTGACGGGAGGACCCCAAGCTCAGGGCCAGGCACAGGACACATCCCTGGGGGTCTGGGCCAGGTCCCCAGGGACAATAGCAAAACCCATGGAATGTCAGGAGCTGCCCCCAGCCCCAAGCAAGGACTCTCCTGGCCCCCGCGGCACTGCTGTCTGCTCTCCAGGAACACAAGGCCTGACCTGGTTGCACAAACACCCAGAGCGGGTTCACACCCCCTCCCTACCTCCCGGGAAGAGGCATGAGAGGGTGACGGTTTGGGCTTTTTGGTGGTGGGATCCTGGAAAAGCCACAGAGAGGAGCTCCCAAACTA | benign | 155,121 |
Clinical classification of chromosome 9, position 136433147, gene INPP5E (inositol polyphosphate-5-phosphatase E): benign or pathogenic? Disease(s) if pathogenic? | benign | AAGCCCTTGAAGATGGACCCTGCCACAGGATGGGCACTCGGACTGGCTCAGACCAGCTTGTGCCAGCCGCCGCACCCCAGGCCCTCACCTCTCCTCATCTCCCACCACGCCCACCCTCCCCCCACCCGCCGCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCATGCCCGCCCCCCCAGGCCCTCACCTTTCCGCATCTCCCGGATGAGCTGGTCGTGCTGCAGCAGCGCCGGCACGTCCACCACCAGGCCCTGGCACAGGAGGGCGTCCACGACTGTGCGCCCGCCACTCAGGCGGAAGTTGAAGTCTCCAAACCAGAACACCTCATCGAAGCGGGTGGTGACGTCCGCTGCGGCACAGTGGGCCATGTGTGGGCACAGGCAGAGGGACGGCAGGTCCTTCCCCTTCCCCAGAACATGGCCTGGGAGTGGCTCTCAGGGGAAGTGGGTCTTGGGCGCCAGCCGGTGGGGCCGGGCCCTCAGGGGTGGGATTCGCACTGGGACAGTTCCAGAAGGCACCTGGAGCAGCCTCAGGAGCAGACGATGCCCATGGCAGGCGATGGCCACGTCCCTGCTCCTCTCCACACAGCCAGGGGAGGCGGCGGGGCGGGCAGTGGCGAGGACCAGGACCCAGGCTAGTGGGCCACGCCGAGTGGACAGGATCCGCCCACCCCACTAACCGTGCTAAAGAACCGCGAGGGGCCATGCGCTGGGGGCACTGGACGTTTCGGCCCTCGCTTCCCAAAGCTCAGGACGCTGCCTCTTCAGAACTGCCCTAAAAACGACGGGCGCCCGTGTGCGAACCACGGCGGCACCACCCACACGCAGCGTGGACGCCCTCACCTGCGCTGGAGCGATAGGGGTTGGTGTCGGGCACATTTCTGGGCAGGACCAGGGCTTGTACAGTCCTGGTGTAGTCCAGCAGCCGCTCCGCCACCTTCCCGTCACCTGCTGTGGGAACAGAAATGGGGTAGGGACCACAGGGTTCCGGATGCTCGAGTCTCCCTAAAGCGCCGCACCTCTGGACTGTGCCCTGACTGCGCACCCCCGGCAGACGCAACCCCACCGGGCATCCGCTGCCGGGCCCAGCCAGTGACATTTCCGCCTCGGAGGACAGAGCACGGGCCCAGCACGGCACGCCCTCGGTGCCGGGGTCTGCCGGGGGTCCTTGGCGTGCATCTTAGCAAGCGTGGTGCCCACCCCACGGCCCTGGGTGGAAGATGAAGCCAGCGGTCAGGACCCCTGCCTTGGACAGGGTCCCGGTCAGGAGAGGAAGCTGTTCTCACACAGCACCTGCGGTGCGGGCACCAAGCAACTTACAGGTGAAGTGGGACGTGATGAAGAGGAAGGAAGTGCCAAAAAAGGTGAAGCTGATGCCCAAGGCCCCCTTGGTCTTGATCTGAGACACGATGCGTGTGGTCACCGTGGAGCACTCCACCTCTGTGGGAGGGGCAGCCCTCAGCTCACCTGTGGGACGCTGCCACCTTCCAGCCGCGCCCACCCCTCCAGCCGCGCCCACCTGAGCAGAACCAGATGAGGTCCCTGCGGATGAAGAGCGACATGTAGAGCACGCCGTGGGCCGCCGAGGACAGCAGCACATAGTGCGGGCCCAGCGTCTCCTGCAGACGAGTCTCCCACTCCCGCCTGCAGAGGAGGAAGCACGGCCGGCTGGGGGACATGGCCTCCCAGCTCCGCCACCCCCAGACCTGCTGCCCAGAGCCCCTCGAGGAGCTACCAGGGAAACCCCACGACCTGGCCTTGGTGTCTTGCGCGGAGAAGCAATTGCCAGAAGGCCTGGTGGGCCAGAGTTGGGACCTGCCGGGGGCCACAGGCCCCAGTTCCACTTGAGTGGCTCCCCTGGACCCCCGCCGAGACCCCAGTGAGCAGAGCTCCTCCCGCCTGAGGGACTCATGGGCCAGGGAGGTGGGGCCCACCTCAACTCCTTCCCCCAGAGCACCTGTGTGGGCGGCAGCCACCTGCTGTTCCCGCCATGACATGGGGGCCCGGGAGGCCTTGGGGCCCGGCCCTGCTCCGGCTGCCCTTCTACTCTCGCACGCCAACAGTTTGTTACCAAAATCAAATCTCATTGATTTTAAACTCTCCGAGTTGCCACTGGAAAAAAATCTGACCCATGCCTCCCACCCAGGCGTGGAGGCTGCCCGTGCCCGGCCGCCACCCGGGTCTCAGCGCCCAGCAGCTTCAGAGACGGCAGCCCCCGGGCAGGCACTGCAGATCTGTGCCCGGCCACGAACCGGGTATCAGCGCCCAGCAGCTTCACAGATGGCAGCCCCCGGGCAGGCACTGCAGACCCGTGCCCAGCCATGACCACAGGTCTCAGCACCCAGCTGCTTCAGAGACGGCAGCCCCTGGGCAGGCACTGCAGGGCCTGCAGCCGCCCTACCTGTCAGAACAGCCCTCCTGGACCCCGATGACATACAGGTCCTGGGCATAGTCGGCCTCGGCTGGGAGCAGGAACTCGTCCAGGCTGGGCGGGAGCTCCTGGAAGGAGGGAGCATGTGGTGGGCCGGCTCCTCCCGAAACCTGCAGGCGCCTGTGGGTGAATCCCACTGCGGTGCCTTGAGTACCAGCGACTCCTCCGAATGAGGGGAAACTGAGGCCAGGGCCAAAAAGGGAGCTGCCCGGTCTCCGAGGCAGCCTCTGACACACCAAACACGCCTCACGTTGGCCCTCGGCCTGTTTCCCTCTCCAAGCACGAGTCTGTCCAACGACCACCCCTGTATGACCCTCCCGTCACCATGACCCCAGCCCGTGCTGCCCACCCTGTCCCTGAGCCACCCCTACGCGTGCCCCGCTGGCCGCCCTCCCGCTCACCTTGAGCAGGTGATTCTCGGCCAGGCCCGTTGCCCCAACCCCCTCCCCTACTTTCTGCAGCCACGTGGCCAGGGAGGTGCAGGTGGGAGCTCTGGGGGATGGGGGTCCTTACCCACTCTCACCCTCCTGTACTGCGGTTAGCAGTGGGGTGCACCTCGGGGCTCTGCCCTCCTGGCCCCAGGATGAGGCACAGAGCTGCCCCGTCCCCCTCACCCGCCTTTGTCCAGCACCACCCCACCCTTCCCCGCCCAGCACCACCCACAGCCACTCACCTTCTGGCCCTGCATGTTCCAGGTGGCCACGAAGAGTGCCACGTTCCGGTCTGGGAAGTAGCGGGCCAGCTCATCCGCCCCCAACAGGGCCCCGCTGGCCAGGAGGCTGCCCTCCAGGTAACTCCTGTGACGGGAGGACCCCAAGCTCAGGGCCAGGCACAGGACACATCCCTGGGGGTCTGGGCCAGGTCCCCAGGGACAATAGCAAAACCCATGGAATGTCAGGAGCTGCCCCCAGCCCCAAGCAAGGACTCTCCTGGCCCCCGCGGCACTGCTGTCTGCTCTCCAGGAACACAAGGCCTGACCTGGTTGCACAAACACCCAGAGCGGGTTCACACCCCCTCCCTACCTCCCGGGAAGAGGCATGAGAGGGTGACGGTTTGGGCTTTTTGGTGGTGGGATCCTGGAAAAGCCACAGAGAGGAGCTCCCAAACTATAAGCCAAGGCAGTGGGCA | AAGCCCTTGAAGATGGACCCTGCCACAGGATGGGCACTCGGACTGGCTCAGACCAGCTTGTGCCAGCCGCCGCACCCCAGGCCCTCACCTCTCCTCATCTCCCACCACGCCCACCCTCCCCCCACCCGCCGCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCATGCCCGCCCCCCCAGGCCCTCACCTTTCCGCATCTCCCGGATGAGCTGGTCGTGCTGCAGCAGCGCCGGCACGTCCACCACCAGGCCCTGGCACAGGAGGGCGTCCACGACTGTGCGCCCGCCACTCAGGCGGAAGTTGAAGTCTCCAAACCAGAACACCTCATCGAAGCGGGTGGTGACGTCCGCTGCGGCACAGTGGGCCATGTGTGGGCACAGGCAGAGGGACGGCAGGTCCTTCCCCTTCCCCAGAACATGGCCTGGGAGTGGCTCTCAGGGGAAGTGGGTCTTGGGCGCCAGCCGGTGGGGCCGGGCCCTCAGGGGTGGGATTCGCACTGGGACAGTTCCAGAAGGCACCTGGAGCAGCCTCAGGAGCAGACGATGCCCATGGCAGGCGATGGCCACGTCCCTGCTCCTCTCCACACAGCCAGGGGAGGCGGCGGGGCGGGCAGTGGCGAGGACCAGGACCCAGGCTAGTGGGCCACGCCGAGTGGACAGGATCCGCCCACCCCACTAACCGTGCTAAAGAACCGCGAGGGGCCATGCGCTGGGGGCACTGGACGTTTCGGCCCTCGCTTCCCAAAGCTCAGGACGCTGCCTCTTCAGAACTGCCCTAAAAACGACGGGCGCCCGTGTGCGAACCACGGCGGCACCACCCACACGCAGCGTGGACGCCCTCACCTGCGCTGGAGCGATAGGGGTTGGTGTCGGGCACATTTCTGGGCAGGACCAGGGCTTGTACAGTCCTGGTGTAGTCCAGCAGCCGCTCCGCCACCTTCCCGTCACCTGCTGTGGGAACAGAAATGGGGTAGGGACCACAGGGTTCCGGATGCTCGAGTCTCCCTAAAGCGCCGCACCTCTGGACTGTGCCCTGACTGCGCACCCCCGGCAGACGCAACCCCACCGGGCATCCGCTGCCGGGCCCAGCCAGTGACATTTCCGCCTCGGAGGACAGAGCACGGGCCCAGCACGGCACGCCCTCGGTGCCGGGGTCTGCCGGGGGTCCTTGGCGTGCATCTTAGCAAGCGTGGTGCCCACCCCACGGCCCTGGGTGGAAGATGAAGCCAGCGGTCAGGACCCCTGCCTTGGACAGGGTCCCGGTCAGGAGAGGAAGCTGTTCTCACACAGCACCTGCGGTGCGGGCACCAAGCAACTTACAGGTGAAGTGGGACGTGATGAAGAGGAAGGAAGTGCCAAAAAAGGTGAAGCTGATGCCCAAGGCCCCCTTGGTCTTGATCTGAGACACGATGCGTGTGGTCACCGTGGAGCACTCCACCTCTGTGGGAGGGGCAGCCCTCAGCTCACCTGTGGGACGCTGCCACCTTCCAGCCGCGCCCACCCCTCCAGCCGCGCCCACCCCTCCAGCCACGCCCACCTGAGCAGAACCAGATGAGGTCCCTGCGGATGAAGAGCGACATGTAGAGCACGCCGTGGGCCGCCGAGGACAGCAGCACATAGTGCGGGCCCAGCGTCTCCTGCAGACGAGTCTCCCACTCCCGCCTGCAGAGGAGGAAGCACGGCCGGCTGGGGGACATGGCCTCCCAGCTCCGCCACCCCCAGACCTGCTGCCCAGAGCCCCTCGAGGAGCTACCAGGGAAACCCCACGACCTGGCCTTGGTGTCTTGCGCGGAGAAGCAATTGCCAGAAGGCCTGGTGGGCCAGAGTTGGGACCTGCCGGGGGCCACAGGCCCCAGTTCCACTTGAGTGGCTCCCCTGGACCCCCGCCGAGACCCCAGTGAGCAGAGCTCCTCCCGCCTGAGGGACTCATGGGCCAGGGAGGTGGGGCCCACCTCAACTCCTTCCCCCAGAGCACCTGTGTGGGCGGCAGCCACCTGCTGTTCCCGCCATGACATGGGGGCCCGGGAGGCCTTGGGGCCCGGCCCTGCTCCGGCTGCCCTTCTACTCTCGCACGCCAACAGTTTGTTACCAAAATCAAATCTCATTGATTTTAAACTCTCCGAGTTGCCACTGGAAAAAAATCTGACCCATGCCTCCCACCCAGGCGTGGAGGCTGCCCGTGCCCGGCCGCCACCCGGGTCTCAGCGCCCAGCAGCTTCAGAGACGGCAGCCCCCGGGCAGGCACTGCAGATCTGTGCCCGGCCACGAACCGGGTATCAGCGCCCAGCAGCTTCACAGATGGCAGCCCCCGGGCAGGCACTGCAGACCCGTGCCCAGCCATGACCACAGGTCTCAGCACCCAGCTGCTTCAGAGACGGCAGCCCCTGGGCAGGCACTGCAGGGCCTGCAGCCGCCCTACCTGTCAGAACAGCCCTCCTGGACCCCGATGACATACAGGTCCTGGGCATAGTCGGCCTCGGCTGGGAGCAGGAACTCGTCCAGGCTGGGCGGGAGCTCCTGGAAGGAGGGAGCATGTGGTGGGCCGGCTCCTCCCGAAACCTGCAGGCGCCTGTGGGTGAATCCCACTGCGGTGCCTTGAGTACCAGCGACTCCTCCGAATGAGGGGAAACTGAGGCCAGGGCCAAAAAGGGAGCTGCCCGGTCTCCGAGGCAGCCTCTGACACACCAAACACGCCTCACGTTGGCCCTCGGCCTGTTTCCCTCTCCAAGCACGAGTCTGTCCAACGACCACCCCTGTATGACCCTCCCGTCACCATGACCCCAGCCCGTGCTGCCCACCCTGTCCCTGAGCCACCCCTACGCGTGCCCCGCTGGCCGCCCTCCCGCTCACCTTGAGCAGGTGATTCTCGGCCAGGCCCGTTGCCCCAACCCCCTCCCCTACTTTCTGCAGCCACGTGGCCAGGGAGGTGCAGGTGGGAGCTCTGGGGGATGGGGGTCCTTACCCACTCTCACCCTCCTGTACTGCGGTTAGCAGTGGGGTGCACCTCGGGGCTCTGCCCTCCTGGCCCCAGGATGAGGCACAGAGCTGCCCCGTCCCCCTCACCCGCCTTTGTCCAGCACCACCCCACCCTTCCCCGCCCAGCACCACCCACAGCCACTCACCTTCTGGCCCTGCATGTTCCAGGTGGCCACGAAGAGTGCCACGTTCCGGTCTGGGAAGTAGCGGGCCAGCTCATCCGCCCCCAACAGGGCCCCGCTGGCCAGGAGGCTGCCCTCCAGGTAACTCCTGTGACGGGAGGACCCCAAGCTCAGGGCCAGGCACAGGACACATCCCTGGGGGTCTGGGCCAGGTCCCCAGGGACAATAGCAAAACCCATGGAATGTCAGGAGCTGCCCCCAGCCCCAAGCAAGGACTCTCCTGGCCCCCGCGGCACTGCTGTCTGCTCTCCAGGAACACAAGGCCTGACCTGGTTGCACAAACACCCAGAGCGGGTTCACACCCCCTCCCTACCTCCCGGGAAGAGGCATGAGAGGGTGACGGTTTGGGCTTTTTGGTGGTGGGATCCTGGAAAAGCCACAGAGAGGAGCTCCCAAACTAT | benign | 155,124 |
Determine if the mutation at chromosome 9, position 136433147 in gene INPP5E (inositol polyphosphate-5-phosphatase E) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | AAGCCCTTGAAGATGGACCCTGCCACAGGATGGGCACTCGGACTGGCTCAGACCAGCTTGTGCCAGCCGCCGCACCCCAGGCCCTCACCTCTCCTCATCTCCCACCACGCCCACCCTCCCCCCACCCGCCGCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCATGCCCGCCCCCCCAGGCCCTCACCTTTCCGCATCTCCCGGATGAGCTGGTCGTGCTGCAGCAGCGCCGGCACGTCCACCACCAGGCCCTGGCACAGGAGGGCGTCCACGACTGTGCGCCCGCCACTCAGGCGGAAGTTGAAGTCTCCAAACCAGAACACCTCATCGAAGCGGGTGGTGACGTCCGCTGCGGCACAGTGGGCCATGTGTGGGCACAGGCAGAGGGACGGCAGGTCCTTCCCCTTCCCCAGAACATGGCCTGGGAGTGGCTCTCAGGGGAAGTGGGTCTTGGGCGCCAGCCGGTGGGGCCGGGCCCTCAGGGGTGGGATTCGCACTGGGACAGTTCCAGAAGGCACCTGGAGCAGCCTCAGGAGCAGACGATGCCCATGGCAGGCGATGGCCACGTCCCTGCTCCTCTCCACACAGCCAGGGGAGGCGGCGGGGCGGGCAGTGGCGAGGACCAGGACCCAGGCTAGTGGGCCACGCCGAGTGGACAGGATCCGCCCACCCCACTAACCGTGCTAAAGAACCGCGAGGGGCCATGCGCTGGGGGCACTGGACGTTTCGGCCCTCGCTTCCCAAAGCTCAGGACGCTGCCTCTTCAGAACTGCCCTAAAAACGACGGGCGCCCGTGTGCGAACCACGGCGGCACCACCCACACGCAGCGTGGACGCCCTCACCTGCGCTGGAGCGATAGGGGTTGGTGTCGGGCACATTTCTGGGCAGGACCAGGGCTTGTACAGTCCTGGTGTAGTCCAGCAGCCGCTCCGCCACCTTCCCGTCACCTGCTGTGGGAACAGAAATGGGGTAGGGACCACAGGGTTCCGGATGCTCGAGTCTCCCTAAAGCGCCGCACCTCTGGACTGTGCCCTGACTGCGCACCCCCGGCAGACGCAACCCCACCGGGCATCCGCTGCCGGGCCCAGCCAGTGACATTTCCGCCTCGGAGGACAGAGCACGGGCCCAGCACGGCACGCCCTCGGTGCCGGGGTCTGCCGGGGGTCCTTGGCGTGCATCTTAGCAAGCGTGGTGCCCACCCCACGGCCCTGGGTGGAAGATGAAGCCAGCGGTCAGGACCCCTGCCTTGGACAGGGTCCCGGTCAGGAGAGGAAGCTGTTCTCACACAGCACCTGCGGTGCGGGCACCAAGCAACTTACAGGTGAAGTGGGACGTGATGAAGAGGAAGGAAGTGCCAAAAAAGGTGAAGCTGATGCCCAAGGCCCCCTTGGTCTTGATCTGAGACACGATGCGTGTGGTCACCGTGGAGCACTCCACCTCTGTGGGAGGGGCAGCCCTCAGCTCACCTGTGGGACGCTGCCACCTTCCAGCCGCGCCCACCCCTCCAGCCGCGCCCACCTGAGCAGAACCAGATGAGGTCCCTGCGGATGAAGAGCGACATGTAGAGCACGCCGTGGGCCGCCGAGGACAGCAGCACATAGTGCGGGCCCAGCGTCTCCTGCAGACGAGTCTCCCACTCCCGCCTGCAGAGGAGGAAGCACGGCCGGCTGGGGGACATGGCCTCCCAGCTCCGCCACCCCCAGACCTGCTGCCCAGAGCCCCTCGAGGAGCTACCAGGGAAACCCCACGACCTGGCCTTGGTGTCTTGCGCGGAGAAGCAATTGCCAGAAGGCCTGGTGGGCCAGAGTTGGGACCTGCCGGGGGCCACAGGCCCCAGTTCCACTTGAGTGGCTCCCCTGGACCCCCGCCGAGACCCCAGTGAGCAGAGCTCCTCCCGCCTGAGGGACTCATGGGCCAGGGAGGTGGGGCCCACCTCAACTCCTTCCCCCAGAGCACCTGTGTGGGCGGCAGCCACCTGCTGTTCCCGCCATGACATGGGGGCCCGGGAGGCCTTGGGGCCCGGCCCTGCTCCGGCTGCCCTTCTACTCTCGCACGCCAACAGTTTGTTACCAAAATCAAATCTCATTGATTTTAAACTCTCCGAGTTGCCACTGGAAAAAAATCTGACCCATGCCTCCCACCCAGGCGTGGAGGCTGCCCGTGCCCGGCCGCCACCCGGGTCTCAGCGCCCAGCAGCTTCAGAGACGGCAGCCCCCGGGCAGGCACTGCAGATCTGTGCCCGGCCACGAACCGGGTATCAGCGCCCAGCAGCTTCACAGATGGCAGCCCCCGGGCAGGCACTGCAGACCCGTGCCCAGCCATGACCACAGGTCTCAGCACCCAGCTGCTTCAGAGACGGCAGCCCCTGGGCAGGCACTGCAGGGCCTGCAGCCGCCCTACCTGTCAGAACAGCCCTCCTGGACCCCGATGACATACAGGTCCTGGGCATAGTCGGCCTCGGCTGGGAGCAGGAACTCGTCCAGGCTGGGCGGGAGCTCCTGGAAGGAGGGAGCATGTGGTGGGCCGGCTCCTCCCGAAACCTGCAGGCGCCTGTGGGTGAATCCCACTGCGGTGCCTTGAGTACCAGCGACTCCTCCGAATGAGGGGAAACTGAGGCCAGGGCCAAAAAGGGAGCTGCCCGGTCTCCGAGGCAGCCTCTGACACACCAAACACGCCTCACGTTGGCCCTCGGCCTGTTTCCCTCTCCAAGCACGAGTCTGTCCAACGACCACCCCTGTATGACCCTCCCGTCACCATGACCCCAGCCCGTGCTGCCCACCCTGTCCCTGAGCCACCCCTACGCGTGCCCCGCTGGCCGCCCTCCCGCTCACCTTGAGCAGGTGATTCTCGGCCAGGCCCGTTGCCCCAACCCCCTCCCCTACTTTCTGCAGCCACGTGGCCAGGGAGGTGCAGGTGGGAGCTCTGGGGGATGGGGGTCCTTACCCACTCTCACCCTCCTGTACTGCGGTTAGCAGTGGGGTGCACCTCGGGGCTCTGCCCTCCTGGCCCCAGGATGAGGCACAGAGCTGCCCCGTCCCCCTCACCCGCCTTTGTCCAGCACCACCCCACCCTTCCCCGCCCAGCACCACCCACAGCCACTCACCTTCTGGCCCTGCATGTTCCAGGTGGCCACGAAGAGTGCCACGTTCCGGTCTGGGAAGTAGCGGGCCAGCTCATCCGCCCCCAACAGGGCCCCGCTGGCCAGGAGGCTGCCCTCCAGGTAACTCCTGTGACGGGAGGACCCCAAGCTCAGGGCCAGGCACAGGACACATCCCTGGGGGTCTGGGCCAGGTCCCCAGGGACAATAGCAAAACCCATGGAATGTCAGGAGCTGCCCCCAGCCCCAAGCAAGGACTCTCCTGGCCCCCGCGGCACTGCTGTCTGCTCTCCAGGAACACAAGGCCTGACCTGGTTGCACAAACACCCAGAGCGGGTTCACACCCCCTCCCTACCTCCCGGGAAGAGGCATGAGAGGGTGACGGTTTGGGCTTTTTGGTGGTGGGATCCTGGAAAAGCCACAGAGAGGAGCTCCCAAACTATAAGCCAAGGCAGTGGGCA | AAGCCCTTGAAGATGGACCCTGCCACAGGATGGGCACTCGGACTGGCTCAGACCAGCTTGTGCCAGCCGCCGCACCCCAGGCCCTCACCTCTCCTCATCTCCCACCACGCCCACCCTCCCCCCACCCGCCGCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCATGCCCGCCCCCCCAGGCCCTCACCTTTCCGCATCTCCCGGATGAGCTGGTCGTGCTGCAGCAGCGCCGGCACGTCCACCACCAGGCCCTGGCACAGGAGGGCGTCCACGACTGTGCGCCCGCCACTCAGGCGGAAGTTGAAGTCTCCAAACCAGAACACCTCATCGAAGCGGGTGGTGACGTCCGCTGCGGCACAGTGGGCCATGTGTGGGCACAGGCAGAGGGACGGCAGGTCCTTCCCCTTCCCCAGAACATGGCCTGGGAGTGGCTCTCAGGGGAAGTGGGTCTTGGGCGCCAGCCGGTGGGGCCGGGCCCTCAGGGGTGGGATTCGCACTGGGACAGTTCCAGAAGGCACCTGGAGCAGCCTCAGGAGCAGACGATGCCCATGGCAGGCGATGGCCACGTCCCTGCTCCTCTCCACACAGCCAGGGGAGGCGGCGGGGCGGGCAGTGGCGAGGACCAGGACCCAGGCTAGTGGGCCACGCCGAGTGGACAGGATCCGCCCACCCCACTAACCGTGCTAAAGAACCGCGAGGGGCCATGCGCTGGGGGCACTGGACGTTTCGGCCCTCGCTTCCCAAAGCTCAGGACGCTGCCTCTTCAGAACTGCCCTAAAAACGACGGGCGCCCGTGTGCGAACCACGGCGGCACCACCCACACGCAGCGTGGACGCCCTCACCTGCGCTGGAGCGATAGGGGTTGGTGTCGGGCACATTTCTGGGCAGGACCAGGGCTTGTACAGTCCTGGTGTAGTCCAGCAGCCGCTCCGCCACCTTCCCGTCACCTGCTGTGGGAACAGAAATGGGGTAGGGACCACAGGGTTCCGGATGCTCGAGTCTCCCTAAAGCGCCGCACCTCTGGACTGTGCCCTGACTGCGCACCCCCGGCAGACGCAACCCCACCGGGCATCCGCTGCCGGGCCCAGCCAGTGACATTTCCGCCTCGGAGGACAGAGCACGGGCCCAGCACGGCACGCCCTCGGTGCCGGGGTCTGCCGGGGGTCCTTGGCGTGCATCTTAGCAAGCGTGGTGCCCACCCCACGGCCCTGGGTGGAAGATGAAGCCAGCGGTCAGGACCCCTGCCTTGGACAGGGTCCCGGTCAGGAGAGGAAGCTGTTCTCACACAGCACCTGCGGTGCGGGCACCAAGCAACTTACAGGTGAAGTGGGACGTGATGAAGAGGAAGGAAGTGCCAAAAAAGGTGAAGCTGATGCCCAAGGCCCCCTTGGTCTTGATCTGAGACACGATGCGTGTGGTCACCGTGGAGCACTCCACCTCTGTGGGAGGGGCAGCCCTCAGCTCACCTGTGGGACGCTGCCACCTTCCAGCCGCGCCCACCCCTCCAGCCGCGCCCACCCCTCTAGCCACGCCCACCTGAGCAGAACCAGATGAGGTCCCTGCGGATGAAGAGCGACATGTAGAGCACGCCGTGGGCCGCCGAGGACAGCAGCACATAGTGCGGGCCCAGCGTCTCCTGCAGACGAGTCTCCCACTCCCGCCTGCAGAGGAGGAAGCACGGCCGGCTGGGGGACATGGCCTCCCAGCTCCGCCACCCCCAGACCTGCTGCCCAGAGCCCCTCGAGGAGCTACCAGGGAAACCCCACGACCTGGCCTTGGTGTCTTGCGCGGAGAAGCAATTGCCAGAAGGCCTGGTGGGCCAGAGTTGGGACCTGCCGGGGGCCACAGGCCCCAGTTCCACTTGAGTGGCTCCCCTGGACCCCCGCCGAGACCCCAGTGAGCAGAGCTCCTCCCGCCTGAGGGACTCATGGGCCAGGGAGGTGGGGCCCACCTCAACTCCTTCCCCCAGAGCACCTGTGTGGGCGGCAGCCACCTGCTGTTCCCGCCATGACATGGGGGCCCGGGAGGCCTTGGGGCCCGGCCCTGCTCCGGCTGCCCTTCTACTCTCGCACGCCAACAGTTTGTTACCAAAATCAAATCTCATTGATTTTAAACTCTCCGAGTTGCCACTGGAAAAAAATCTGACCCATGCCTCCCACCCAGGCGTGGAGGCTGCCCGTGCCCGGCCGCCACCCGGGTCTCAGCGCCCAGCAGCTTCAGAGACGGCAGCCCCCGGGCAGGCACTGCAGATCTGTGCCCGGCCACGAACCGGGTATCAGCGCCCAGCAGCTTCACAGATGGCAGCCCCCGGGCAGGCACTGCAGACCCGTGCCCAGCCATGACCACAGGTCTCAGCACCCAGCTGCTTCAGAGACGGCAGCCCCTGGGCAGGCACTGCAGGGCCTGCAGCCGCCCTACCTGTCAGAACAGCCCTCCTGGACCCCGATGACATACAGGTCCTGGGCATAGTCGGCCTCGGCTGGGAGCAGGAACTCGTCCAGGCTGGGCGGGAGCTCCTGGAAGGAGGGAGCATGTGGTGGGCCGGCTCCTCCCGAAACCTGCAGGCGCCTGTGGGTGAATCCCACTGCGGTGCCTTGAGTACCAGCGACTCCTCCGAATGAGGGGAAACTGAGGCCAGGGCCAAAAAGGGAGCTGCCCGGTCTCCGAGGCAGCCTCTGACACACCAAACACGCCTCACGTTGGCCCTCGGCCTGTTTCCCTCTCCAAGCACGAGTCTGTCCAACGACCACCCCTGTATGACCCTCCCGTCACCATGACCCCAGCCCGTGCTGCCCACCCTGTCCCTGAGCCACCCCTACGCGTGCCCCGCTGGCCGCCCTCCCGCTCACCTTGAGCAGGTGATTCTCGGCCAGGCCCGTTGCCCCAACCCCCTCCCCTACTTTCTGCAGCCACGTGGCCAGGGAGGTGCAGGTGGGAGCTCTGGGGGATGGGGGTCCTTACCCACTCTCACCCTCCTGTACTGCGGTTAGCAGTGGGGTGCACCTCGGGGCTCTGCCCTCCTGGCCCCAGGATGAGGCACAGAGCTGCCCCGTCCCCCTCACCCGCCTTTGTCCAGCACCACCCCACCCTTCCCCGCCCAGCACCACCCACAGCCACTCACCTTCTGGCCCTGCATGTTCCAGGTGGCCACGAAGAGTGCCACGTTCCGGTCTGGGAAGTAGCGGGCCAGCTCATCCGCCCCCAACAGGGCCCCGCTGGCCAGGAGGCTGCCCTCCAGGTAACTCCTGTGACGGGAGGACCCCAAGCTCAGGGCCAGGCACAGGACACATCCCTGGGGGTCTGGGCCAGGTCCCCAGGGACAATAGCAAAACCCATGGAATGTCAGGAGCTGCCCCCAGCCCCAAGCAAGGACTCTCCTGGCCCCCGCGGCACTGCTGTCTGCTCTCCAGGAACACAAGGCCTGACCTGGTTGCACAAACACCCAGAGCGGGTTCACACCCCCTCCCTACCTCCCGGGAAGAGGCATGAGAGGGTGACGGTTTGGGCTTTTTGGTGGTGGGATCCTGGAAAAGCCACAGAGAGGAGCTCCCAAACTAT | benign | 155,125 |
Gene INPP5E (inositol polyphosphate-5-phosphatase E) variant at chromosome position 136438597 on chromosome 9: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | CAGCTCTCCGAGCAAAAGGAACGGGTGGGGAAAGGCCCCCTAACCCGCCCTGGCAGCCCCAAGGCACTGGCAAAAGCCAGCAGCCATTCTCAAACAGGGCGGACCCAGCCCGTGCACACGCGGCCCGCAAACTCAGAATGGGTTTTACTGTGTGGAACGGCAGAGAAAGAAAAAAGAGCGAGGTTCCAATGTATGTCCCTAATAGACTCACTGGCACACAGACGCCCTTTGGTCCCCACTGTCTGTGTCTCCCCCTTGACAGAAAGAGTGCGCCGACTCCTATTCTAGAACAGACCGGAGGTCTGGAAATGGGAAGCTGTTAGGCAGCAGAACTGGGTTAAAGGATCCACGTCAACCCTCGTTTCCTGGTTGTTTGAAAACAATGACTTGAGGGTCCAAATTTGAGACACGACTGTCCTTTTCTCTAACAGGTGTATCTACGTCAACCGGATCTAATTTTAAAATGTGATGCTTTAGATGCACTAAGAAATCTCACTCTTTACGAGAAGCCCTGCAGTGAATTATTTTAACAAAAGCAGCAGTCTTGCCCTGGATGTGATCGCACCTGCTCCATCCATGACAGGAGGAGAGTATGGTGGGGGCGCCAGGCACGGGCCCTCACTCCAGGCCTGAGCCCACCTGCCTGCTGGTGCACCACAGACGCGGGGAAGTGAGGCTACCTTCGGGGACTGTGGTGAGCTGAACAGTGATCCCCAAAGCCATGTCCACTCCCAGAGCCCCAGAACCTTGGAATGGGACCTTATTCGGAAACGGGGTCTTTGCAAACGTGTTTAATTAAGGATCTCGAGATAAGACCACCCTGGATTTAGGGTAGGCAGTAAATTCAATGACTGGTGTCCTTATAAAAAGAGAGGGGAACACAGAGAGACAGGGAAGAGGCCACATAAAGACAGAGGCAGAGACTGGAGCATGCGGCCACAAGCCAAGGAACAAGTGGGGCCCCAGGAGCGGGAGGCAGCGGGAGGACCCTCCCCTGAGCCTCTGGAGAGAGGCTGCGTGGCCACACCTTGATTTTAGACTTCTGGCCTCTAGAACTGGGAGAGAGTCCAGCTCTGCTGTTGCAAGCCTCCCAGTCTGTGGTCATGAGTTACAACGGCCCCAGGACACCAACACAGAAACCACCTCACACCTCTCCCTTCTCACACCTGTCCTGCCTCCCGCCGCGGCTGACAGACAAGACTTGGGCACCATGGCAGTGGGGTGGGGGGAGGAAAAGAAGGGTGCAGGTGACTCTGCCAAGTCATAGTGGGAGCATCTCAGGACAGGCCCCCAGACTGAGACCCCAAGACAAGACCAGGCTTGGGAGAGGTCATGGGTTCAGCTGCAGTTCCTTCCAGCAACAGCTGGAGCCCACCAAAATGTTCCTCATGAGCAAGTGGCTAAACGAAAGTAGCCTCAACACATCTGGGGCCTCTTGCCGCAGAAAAAAACAAAGGGGGCAGGCCGGGCGCAGTGGCCCACGCCGGGAATCCCAGCACTTTGGGAGGCCGAGGCCAGGAGTTCGAGACCAGCCTCGCCAACACGGCGAAACCCCGCCCCTACTAAAAATACAAAATTTAGCTGGGTGTGGTGGCGGGCGCCTGTAATCCCAGATTCTCAGGAGGCTGCGGCAGGAGGATCCCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGGGATCGCGCCGCTGCACTCCAGCCTGGGCGACAGAGAGAGTAACAAACAAAAACAACCAAAGGGGCGGATCGTATACATTGACGACATTTCCCAAGACTAAACAAGAAAAAGCGCCAGATACGTAATTGTATGCAGGATGCCATCCTGTCTACCTTAACACAACGTCACGCCCACGAATGGTTCTGAAACGCACAGGAAAAGTTCTGGGAAGGGCGCTGCTGTGGGGTGGGGCTGGGAGATGGGGTGGCTGCGGGAGACCCGCTTCGTTCTTTCCGGTTAGGCATCTTAAACGCTGCTGATGGGAACGGTCTCACGAGGTTCCAGCAGCCTGAACACTACAACGAAGGCGGCGCGGGCGCTGCACCCGCCAGGCCCTCCCTACCTGCTGCGGACGTCCTTGCTGCGGATGGGCGCCAGGAGGCTGAAGGAGGATTTGGCCGAGCGAAGGGAACAGTCGTCGCAGGCCAGGGGGCTCCGCGGCCGGCCGGGGCCCAGGCTGCTGTGGGCCCGCACCAGGAGCGGCTGCGCGCGGAGCTTGTAGTCTGCAAGATCCGAGTCGACCTTGTTTGCTGTCCTCAGGGAGTCGGAGGCGATGTCCAGGCTCAGGGCAGGCGGTGGGCGCGGGGGCAGCAGGCTGGGCAGCCTGGGCGAGCTCCCCGCCACGGCGGCGTCTCTGTGCGGGAGGTTCGGGGAGCTGCTGGCCACCCCAGAGAGAGGGTTACCCCCCGAGGACGGGCTCCCTCTCTCACTGCTCAGGACCCCGCGGGACTTGGGGATTTCCTGCAAGGAGGTGCTCAGGCAGGGCGGGGAGCAGCTGTGGGCGGGGGCCCCGGGGCCCTCGCTCTGCACTGAGCCCCTGGAGGGACTGGTCCCATTCCGGGCTTCCAGGTCCTCCTGGCTGCCTCGAAAACGCCTCCTCCTCCAGCCCTTGTCGTCCAGGGACAGGGCTCGCTCCAGTCGAGGCCTGGCGGGGGGCCGCGGGGCGATGGGTGCTGCTCGGGCTGGCGGGTCCTCGCCGCTGGGCGTGGCCGGAGTGCTGCAGGCAAGCGCGGGGCTCTCGGAGCCCGGAGCATCGGGTGGGGACCCCGCGCGCTGGGCCGGCGGAGCGCCGGGAAGCTGTCCTTGGAGCGTCCTCCCTTCCGGCGGCTGCGGGGCCGGCTCGGAGGGCCGCAGATTCTCCGCCTTGGACGGCATGGACGGTCTCTCCCGGGGCAGGCCTCGGCGCGAGGCCGCAGGCAGCGCGAGGGGTCACGGGTGCCGGGTCCGGGGTCGCCGGCGCAGCGAGGAGCAGAAACGCCGCTGCGGCTCCCGCTTGGGCCGGGGATGGTCGCGGAGGGGCGGGGGCGGCTGCCGCATGGCCCGGGCCCCGAGTCCCGCCAGCCCCTCGGGGCTCCCAGACGCCGTTCCCAGGGCGGTCCGCAGGCAAGGCCTGGGGGAACAGGCGGCTGGGCGCCTGTCGCGGGGGAGGTTCGACCCCGACGGGGACGCCGCTCGGGGAGAGGGGTGGGAAGCGGGCACCCCTGGCTGGGCTCGCAGACTCCGAAGTCGACCCGGTACTCGCGGAGGCCCGGCCGCCCAGAAGCGGAGTCAGCCCGGCCGGGACCCAGCAACCGCCGCCGCGGGGCCGCGCCCGGTCCCCGCCCCGCGCCCCGGCCCCGCCCACAGCGGCCCCTGGCGGCCGGAGGACTGCGCCGCACCGGACCCGGACGGGTCTCCCACGCCCCTCCCAACCCGGCAGCCCCGCAGTCCGGCAGGTCCCAGCGAGGCAGGTGCAGGTCCCCGGAGAGGACCTGGGTGCGGTCCAGGACAGCGCCGAGGCCTGCGGACACCTGCACTCACTCGCTTCCAGCAAACCAAAGGGAACCACAGGTGAAGGTGCTTGAAGGAGCGCAAAATATTTTATTCAACAATTTGCAATGTAACAATTCTCATTTAGGAAAAATAGCCGCTCCCGCCTGGAGGAAGCTTCTTGAATCAAAAGTCGTGGCAGTCGACCCCAGAACAGCGGGCAGAGCCGACCGGAAGAGGTCCCAGGATTCACACGAGCTGACCGAGGGACAGAGAGGGCTGCCCCGTCACAGGGACTGGCCTTTCTCCAAGTGACAAGGACAAATGGATCCAGCGGGACACGCCTGTGGAACATTTTGGAAAACATCCTGGGTGGTCTGGGCTAAATGATCAAGTGAAACAGAAAGCCAGGAAGGATCTGTGCTAATTCCACATTCTACAATTTCTACACTTAAATTTAAAACACCAAACAGTTTGTATTCCTCCAGCAGAACCTACAGAAATTATCTACTGATTTTTATTAGTATTTAAATCTTTTCTTCAGTCTCTTTAGACTTGACAAGAATACGAAGAGTTTCAGAACAGTCAGAGAAGCCTTAAAGCTTTGCATCAGTGAGAGGAGGCCCGTCTC | CAGCTCTCCGAGCAAAAGGAACGGGTGGGGAAAGGCCCCCTAACCCGCCCTGGCAGCCCCAAGGCACTGGCAAAAGCCAGCAGCCATTCTCAAACAGGGCGGACCCAGCCCGTGCACACGCGGCCCGCAAACTCAGAATGGGTTTTACTGTGTGGAACGGCAGAGAAAGAAAAAAGAGCGAGGTTCCAATGTATGTCCCTAATAGACTCACTGGCACACAGACGCCCTTTGGTCCCCACTGTCTGTGTCTCCCCCTTGACAGAAAGAGTGCGCCGACTCCTATTCTAGAACAGACCGGAGGTCTGGAAATGGGAAGCTGTTAGGCAGCAGAACTGGGTTAAAGGATCCACGTCAACCCTCGTTTCCTGGTTGTTTGAAAACAATGACTTGAGGGTCCAAATTTGAGACACGACTGTCCTTTTCTCTAACAGGTGTATCTACGTCAACCGGATCTAATTTTAAAATGTGATGCTTTAGATGCACTAAGAAATCTCACTCTTTACGAGAAGCCCTGCAGTGAATTATTTTAACAAAAGCAGCAGTCTTGCCCTGGATGTGATCGCACCTGCTCCATCCATGACAGGAGGAGAGTATGGTGGGGGCGCCAGGCACGGGCCCTCACTCCAGGCCTGAGCCCACCTGCCTGCTGGTGCACCACAGACGCGGGGAAGTGAGGCTACCTTCGGGGACTGTGGTGAGCTGAACAGTGATCCCCAAAGCCATGTCCACTCCCAGAGCCCCAGAACCTTGGAATGGGACCTTATTCGGAAACGGGGTCTTTGCAAACGTGTTTAATTAAGGATCTCGAGATAAGACCACCCTGGATTTAGGGTAGGCAGTAAATTCAATGACTGGTGTCCTTATAAAAAGAGAGGGGAACACAGAGAGACAGGGAAGAGGCCACATAAAGACAGAGGCAGAGACTGGAGCATGCGGCCACAAGCCAAGGAACAAGTGGGGCCCCAGGAGCGGGAGGCAGCGGGAGGACCCTCCCCTGAGCCTCTGGAGAGAGGCTGCGTGGCCACACCTTGATTTTAGACTTCTGGCCTCTAGAACTGGGAGAGAGTCCAGCTCTGCTGTTGCAAGCCTCCCAGTCTGTGGTCATGAGTTACAACGGCCCCAGGACACCAACACAGAAACCACCTCACACCTCTCCCTTCTCACACCTGTCCTGCCTCCCGCCGCGGCTGACAGACAAGACTTGGGCACCATGGCAGTGGGGTGGGGGGAGGAAAAGAAGGGTGCAGGTGACTCTGCCAAGTCATAGTGGGAGCATCTCAGGACAGGCCCCCAGACTGAGACCCCAAGACAAGACCAGGCTTGGGAGAGGTCATGGGTTCAGCTGCAGTTCCTTCCAGCAACAGCTGGAGCCCACCAAAATGTTCCTCATGAGCAAGTGGCTAAACGAAAGTAGCCTCAACACATCTGGGGCCTCTTGCCGCAGAAAAAAACAAAGGGGGCAGGCCGGGCGCAGTGGCCCACGCCGGGAATCCCAGCACTTTGGGAGGCCGAGGCCAGGAGTTCGAGACCAGCCTCGCCAACACGGCGAAACCCCGCCCCTACTAAAAATACAAAATTTAGCTGGGTGTGGTGGCGGGCGCCTGTAATCCCAGATTCTCAGGAGGCTGCGGCAGGAGGATCCCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGGGATCGCGCCGCTGCACTCCAGCCTGGGCGACAGAGAGAGTAACAAACAAAAACAACCAAAGGGGCGGATCGTATACATTGACGACATTTCCCAAGACTAAACAAGAAAAAGCGCCAGATACGTAATTGTATGCAGGATGCCATCCTGTCTACCTTAACACAACGTCACGCCCACGAATGGTTCTGAAACGCACAGGAAAAGTTCTGGGAAGGGCGCTGCTGTGGGGTGGGGCTGGGAGATGGGGTGGCTGCGGGAGACCCGCTTCGTTCTTTCCGGTTAGGCATCTTAAACGCTGCTGATGGGAACGGTCTCACGAGGTTCCAGCAGCCTGAACACTACAACGAAGGCGGCGCGGGCGCTGCACCCGCCAGGCCCTACCTGCTGCGGACGTCCTTGCTGCGGATGGGCGCCAGGAGGCTGAAGGAGGATTTGGCCGAGCGAAGGGAACAGTCGTCGCAGGCCAGGGGGCTCCGCGGCCGGCCGGGGCCCAGGCTGCTGTGGGCCCGCACCAGGAGCGGCTGCGCGCGGAGCTTGTAGTCTGCAAGATCCGAGTCGACCTTGTTTGCTGTCCTCAGGGAGTCGGAGGCGATGTCCAGGCTCAGGGCAGGCGGTGGGCGCGGGGGCAGCAGGCTGGGCAGCCTGGGCGAGCTCCCCGCCACGGCGGCGTCTCTGTGCGGGAGGTTCGGGGAGCTGCTGGCCACCCCAGAGAGAGGGTTACCCCCCGAGGACGGGCTCCCTCTCTCACTGCTCAGGACCCCGCGGGACTTGGGGATTTCCTGCAAGGAGGTGCTCAGGCAGGGCGGGGAGCAGCTGTGGGCGGGGGCCCCGGGGCCCTCGCTCTGCACTGAGCCCCTGGAGGGACTGGTCCCATTCCGGGCTTCCAGGTCCTCCTGGCTGCCTCGAAAACGCCTCCTCCTCCAGCCCTTGTCGTCCAGGGACAGGGCTCGCTCCAGTCGAGGCCTGGCGGGGGGCCGCGGGGCGATGGGTGCTGCTCGGGCTGGCGGGTCCTCGCCGCTGGGCGTGGCCGGAGTGCTGCAGGCAAGCGCGGGGCTCTCGGAGCCCGGAGCATCGGGTGGGGACCCCGCGCGCTGGGCCGGCGGAGCGCCGGGAAGCTGTCCTTGGAGCGTCCTCCCTTCCGGCGGCTGCGGGGCCGGCTCGGAGGGCCGCAGATTCTCCGCCTTGGACGGCATGGACGGTCTCTCCCGGGGCAGGCCTCGGCGCGAGGCCGCAGGCAGCGCGAGGGGTCACGGGTGCCGGGTCCGGGGTCGCCGGCGCAGCGAGGAGCAGAAACGCCGCTGCGGCTCCCGCTTGGGCCGGGGATGGTCGCGGAGGGGCGGGGGCGGCTGCCGCATGGCCCGGGCCCCGAGTCCCGCCAGCCCCTCGGGGCTCCCAGACGCCGTTCCCAGGGCGGTCCGCAGGCAAGGCCTGGGGGAACAGGCGGCTGGGCGCCTGTCGCGGGGGAGGTTCGACCCCGACGGGGACGCCGCTCGGGGAGAGGGGTGGGAAGCGGGCACCCCTGGCTGGGCTCGCAGACTCCGAAGTCGACCCGGTACTCGCGGAGGCCCGGCCGCCCAGAAGCGGAGTCAGCCCGGCCGGGACCCAGCAACCGCCGCCGCGGGGCCGCGCCCGGTCCCCGCCCCGCGCCCCGGCCCCGCCCACAGCGGCCCCTGGCGGCCGGAGGACTGCGCCGCACCGGACCCGGACGGGTCTCCCACGCCCCTCCCAACCCGGCAGCCCCGCAGTCCGGCAGGTCCCAGCGAGGCAGGTGCAGGTCCCCGGAGAGGACCTGGGTGCGGTCCAGGACAGCGCCGAGGCCTGCGGACACCTGCACTCACTCGCTTCCAGCAAACCAAAGGGAACCACAGGTGAAGGTGCTTGAAGGAGCGCAAAATATTTTATTCAACAATTTGCAATGTAACAATTCTCATTTAGGAAAAATAGCCGCTCCCGCCTGGAGGAAGCTTCTTGAATCAAAAGTCGTGGCAGTCGACCCCAGAACAGCGGGCAGAGCCGACCGGAAGAGGTCCCAGGATTCACACGAGCTGACCGAGGGACAGAGAGGGCTGCCCCGTCACAGGGACTGGCCTTTCTCCAAGTGACAAGGACAAATGGATCCAGCGGGACACGCCTGTGGAACATTTTGGAAAACATCCTGGGTGGTCTGGGCTAAATGATCAAGTGAAACAGAAAGCCAGGAAGGATCTGTGCTAATTCCACATTCTACAATTTCTACACTTAAATTTAAAACACCAAACAGTTTGTATTCCTCCAGCAGAACCTACAGAAATTATCTACTGATTTTTATTAGTATTTAAATCTTTTCTTCAGTCTCTTTAGACTTGACAAGAATACGAAGAGTTTCAGAACAGTCAGAGAAGCCTTAAAGCTTTGCATCAGTGAGAGGAGGCCCGTCTCNNNN | benign | 155,141 |
The mutation in gene INPP5E (inositol polyphosphate-5-phosphatase E) at chromosome 9, position 136438946—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_aplasia_of_the_vermis', 'Joubert_syndrome_1', 'MORM_syndrome', 'Rod-cone_dystrophy'] | CGTCAACCCTCGTTTCCTGGTTGTTTGAAAACAATGACTTGAGGGTCCAAATTTGAGACACGACTGTCCTTTTCTCTAACAGGTGTATCTACGTCAACCGGATCTAATTTTAAAATGTGATGCTTTAGATGCACTAAGAAATCTCACTCTTTACGAGAAGCCCTGCAGTGAATTATTTTAACAAAAGCAGCAGTCTTGCCCTGGATGTGATCGCACCTGCTCCATCCATGACAGGAGGAGAGTATGGTGGGGGCGCCAGGCACGGGCCCTCACTCCAGGCCTGAGCCCACCTGCCTGCTGGTGCACCACAGACGCGGGGAAGTGAGGCTACCTTCGGGGACTGTGGTGAGCTGAACAGTGATCCCCAAAGCCATGTCCACTCCCAGAGCCCCAGAACCTTGGAATGGGACCTTATTCGGAAACGGGGTCTTTGCAAACGTGTTTAATTAAGGATCTCGAGATAAGACCACCCTGGATTTAGGGTAGGCAGTAAATTCAATGACTGGTGTCCTTATAAAAAGAGAGGGGAACACAGAGAGACAGGGAAGAGGCCACATAAAGACAGAGGCAGAGACTGGAGCATGCGGCCACAAGCCAAGGAACAAGTGGGGCCCCAGGAGCGGGAGGCAGCGGGAGGACCCTCCCCTGAGCCTCTGGAGAGAGGCTGCGTGGCCACACCTTGATTTTAGACTTCTGGCCTCTAGAACTGGGAGAGAGTCCAGCTCTGCTGTTGCAAGCCTCCCAGTCTGTGGTCATGAGTTACAACGGCCCCAGGACACCAACACAGAAACCACCTCACACCTCTCCCTTCTCACACCTGTCCTGCCTCCCGCCGCGGCTGACAGACAAGACTTGGGCACCATGGCAGTGGGGTGGGGGGAGGAAAAGAAGGGTGCAGGTGACTCTGCCAAGTCATAGTGGGAGCATCTCAGGACAGGCCCCCAGACTGAGACCCCAAGACAAGACCAGGCTTGGGAGAGGTCATGGGTTCAGCTGCAGTTCCTTCCAGCAACAGCTGGAGCCCACCAAAATGTTCCTCATGAGCAAGTGGCTAAACGAAAGTAGCCTCAACACATCTGGGGCCTCTTGCCGCAGAAAAAAACAAAGGGGGCAGGCCGGGCGCAGTGGCCCACGCCGGGAATCCCAGCACTTTGGGAGGCCGAGGCCAGGAGTTCGAGACCAGCCTCGCCAACACGGCGAAACCCCGCCCCTACTAAAAATACAAAATTTAGCTGGGTGTGGTGGCGGGCGCCTGTAATCCCAGATTCTCAGGAGGCTGCGGCAGGAGGATCCCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGGGATCGCGCCGCTGCACTCCAGCCTGGGCGACAGAGAGAGTAACAAACAAAAACAACCAAAGGGGCGGATCGTATACATTGACGACATTTCCCAAGACTAAACAAGAAAAAGCGCCAGATACGTAATTGTATGCAGGATGCCATCCTGTCTACCTTAACACAACGTCACGCCCACGAATGGTTCTGAAACGCACAGGAAAAGTTCTGGGAAGGGCGCTGCTGTGGGGTGGGGCTGGGAGATGGGGTGGCTGCGGGAGACCCGCTTCGTTCTTTCCGGTTAGGCATCTTAAACGCTGCTGATGGGAACGGTCTCACGAGGTTCCAGCAGCCTGAACACTACAACGAAGGCGGCGCGGGCGCTGCACCCGCCAGGCCCTCCCTACCTGCTGCGGACGTCCTTGCTGCGGATGGGCGCCAGGAGGCTGAAGGAGGATTTGGCCGAGCGAAGGGAACAGTCGTCGCAGGCCAGGGGGCTCCGCGGCCGGCCGGGGCCCAGGCTGCTGTGGGCCCGCACCAGGAGCGGCTGCGCGCGGAGCTTGTAGTCTGCAAGATCCGAGTCGACCTTGTTTGCTGTCCTCAGGGAGTCGGAGGCGATGTCCAGGCTCAGGGCAGGCGGTGGGCGCGGGGGCAGCAGGCTGGGCAGCCTGGGCGAGCTCCCCGCCACGGCGGCGTCTCTGTGCGGGAGGTTCGGGGAGCTGCTGGCCACCCCAGAGAGAGGGTTACCCCCCGAGGACGGGCTCCCTCTCTCACTGCTCAGGACCCCGCGGGACTTGGGGATTTCCTGCAAGGAGGTGCTCAGGCAGGGCGGGGAGCAGCTGTGGGCGGGGGCCCCGGGGCCCTCGCTCTGCACTGAGCCCCTGGAGGGACTGGTCCCATTCCGGGCTTCCAGGTCCTCCTGGCTGCCTCGAAAACGCCTCCTCCTCCAGCCCTTGTCGTCCAGGGACAGGGCTCGCTCCAGTCGAGGCCTGGCGGGGGGCCGCGGGGCGATGGGTGCTGCTCGGGCTGGCGGGTCCTCGCCGCTGGGCGTGGCCGGAGTGCTGCAGGCAAGCGCGGGGCTCTCGGAGCCCGGAGCATCGGGTGGGGACCCCGCGCGCTGGGCCGGCGGAGCGCCGGGAAGCTGTCCTTGGAGCGTCCTCCCTTCCGGCGGCTGCGGGGCCGGCTCGGAGGGCCGCAGATTCTCCGCCTTGGACGGCATGGACGGTCTCTCCCGGGGCAGGCCTCGGCGCGAGGCCGCAGGCAGCGCGAGGGGTCACGGGTGCCGGGTCCGGGGTCGCCGGCGCAGCGAGGAGCAGAAACGCCGCTGCGGCTCCCGCTTGGGCCGGGGATGGTCGCGGAGGGGCGGGGGCGGCTGCCGCATGGCCCGGGCCCCGAGTCCCGCCAGCCCCTCGGGGCTCCCAGACGCCGTTCCCAGGGCGGTCCGCAGGCAAGGCCTGGGGGAACAGGCGGCTGGGCGCCTGTCGCGGGGGAGGTTCGACCCCGACGGGGACGCCGCTCGGGGAGAGGGGTGGGAAGCGGGCACCCCTGGCTGGGCTCGCAGACTCCGAAGTCGACCCGGTACTCGCGGAGGCCCGGCCGCCCAGAAGCGGAGTCAGCCCGGCCGGGACCCAGCAACCGCCGCCGCGGGGCCGCGCCCGGTCCCCGCCCCGCGCCCCGGCCCCGCCCACAGCGGCCCCTGGCGGCCGGAGGACTGCGCCGCACCGGACCCGGACGGGTCTCCCACGCCCCTCCCAACCCGGCAGCCCCGCAGTCCGGCAGGTCCCAGCGAGGCAGGTGCAGGTCCCCGGAGAGGACCTGGGTGCGGTCCAGGACAGCGCCGAGGCCTGCGGACACCTGCACTCACTCGCTTCCAGCAAACCAAAGGGAACCACAGGTGAAGGTGCTTGAAGGAGCGCAAAATATTTTATTCAACAATTTGCAATGTAACAATTCTCATTTAGGAAAAATAGCCGCTCCCGCCTGGAGGAAGCTTCTTGAATCAAAAGTCGTGGCAGTCGACCCCAGAACAGCGGGCAGAGCCGACCGGAAGAGGTCCCAGGATTCACACGAGCTGACCGAGGGACAGAGAGGGCTGCCCCGTCACAGGGACTGGCCTTTCTCCAAGTGACAAGGACAAATGGATCCAGCGGGACACGCCTGTGGAACATTTTGGAAAACATCCTGGGTGGTCTGGGCTAAATGATCAAGTGAAACAGAAAGCCAGGAAGGATCTGTGCTAATTCCACATTCTACAATTTCTACACTTAAATTTAAAACACCAAACAGTTTGTATTCCTCCAGCAGAACCTACAGAAATTATCTACTGATTTTTATTAGTATTTAAATCTTTTCTTCAGTCTCTTTAGACTTGACAAGAATACGAAGAGTTTCAGAACAGTCAGAGAAGCCTTAAAGCTTTGCATCAGTGAGAGGAGGCCCGTCTCTGAGTTGAACAGGGTTGAGTCCACCAGGAGCTACTCAAAGTCTCAGTGTGGCAAAACTCGGGGCAGAAATACTAAGTTCCAGAGCTGCTGTCAAGAAACTGTGTTAAGATACTCTCCCCAAGTGCTACCAACCTCTGAACCAACGTCCCCCAGGGGAGAAAGTGGGTCATGTGGATTGTACCACGAAAAGTGCTCACGGAAAGTGCAGCCTTTTAGAGAAGTGCATCCAGCTTCCTTAACAGTGAGTCTAACCGTGCTCCTACACACGAAATGAAGCCCAAATCAAACATCACACGGTCAGTTTTCAACCTGGATGACCACCCTGAGCCATCATGTCAGACAGCCGGCT | CGTCAACCCTCGTTTCCTGGTTGTTTGAAAACAATGACTTGAGGGTCCAAATTTGAGACACGACTGTCCTTTTCTCTAACAGGTGTATCTACGTCAACCGGATCTAATTTTAAAATGTGATGCTTTAGATGCACTAAGAAATCTCACTCTTTACGAGAAGCCCTGCAGTGAATTATTTTAACAAAAGCAGCAGTCTTGCCCTGGATGTGATCGCACCTGCTCCATCCATGACAGGAGGAGAGTATGGTGGGGGCGCCAGGCACGGGCCCTCACTCCAGGCCTGAGCCCACCTGCCTGCTGGTGCACCACAGACGCGGGGAAGTGAGGCTACCTTCGGGGACTGTGGTGAGCTGAACAGTGATCCCCAAAGCCATGTCCACTCCCAGAGCCCCAGAACCTTGGAATGGGACCTTATTCGGAAACGGGGTCTTTGCAAACGTGTTTAATTAAGGATCTCGAGATAAGACCACCCTGGATTTAGGGTAGGCAGTAAATTCAATGACTGGTGTCCTTATAAAAAGAGAGGGGAACACAGAGAGACAGGGAAGAGGCCACATAAAGACAGAGGCAGAGACTGGAGCATGCGGCCACAAGCCAAGGAACAAGTGGGGCCCCAGGAGCGGGAGGCAGCGGGAGGACCCTCCCCTGAGCCTCTGGAGAGAGGCTGCGTGGCCACACCTTGATTTTAGACTTCTGGCCTCTAGAACTGGGAGAGAGTCCAGCTCTGCTGTTGCAAGCCTCCCAGTCTGTGGTCATGAGTTACAACGGCCCCAGGACACCAACACAGAAACCACCTCACACCTCTCCCTTCTCACACCTGTCCTGCCTCCCGCCGCGGCTGACAGACAAGACTTGGGCACCATGGCAGTGGGGTGGGGGGAGGAAAAGAAGGGTGCAGGTGACTCTGCCAAGTCATAGTGGGAGCATCTCAGGACAGGCCCCCAGACTGAGACCCCAAGACAAGACCAGGCTTGGGAGAGGTCATGGGTTCAGCTGCAGTTCCTTCCAGCAACAGCTGGAGCCCACCAAAATGTTCCTCATGAGCAAGTGGCTAAACGAAAGTAGCCTCAACACATCTGGGGCCTCTTGCCGCAGAAAAAAACAAAGGGGGCAGGCCGGGCGCAGTGGCCCACGCCGGGAATCCCAGCACTTTGGGAGGCCGAGGCCAGGAGTTCGAGACCAGCCTCGCCAACACGGCGAAACCCCGCCCCTACTAAAAATACAAAATTTAGCTGGGTGTGGTGGCGGGCGCCTGTAATCCCAGATTCTCAGGAGGCTGCGGCAGGAGGATCCCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGGGATCGCGCCGCTGCACTCCAGCCTGGGCGACAGAGAGAGTAACAAACAAAAACAACCAAAGGGGCGGATCGTATACATTGACGACATTTCCCAAGACTAAACAAGAAAAAGCGCCAGATACGTAATTGTATGCAGGATGCCATCCTGTCTACCTTAACACAACGTCACGCCCACGAATGGTTCTGAAACGCACAGGAAAAGTTCTGGGAAGGGCGCTGCTGTGGGGTGGGGCTGGGAGATGGGGTGGCTGCGGGAGACCCGCTTCGTTCTTTCCGGTTAGGCATCTTAAACGCTGCTGATGGGAACGGTCTCACGAGGTTCCAGCAGCCTGAACACTACAACGAAGGCGGCGCGGGCGCTGCACCCGCCAGGCCCTCCCTACCTGCTGCGGACGTCCTTGCTGCGGATGGGCGCCAGGAGGCTGAAGGAGGATTTGGCCGAGCGAAGGGAACAGTCGTCGCAGGCCAGGGGGCTCCGCGGCCGGCCGGGGCCCAGGCTGCTGTGGGCCCGCACCAGGAGCGGCTGCGCGCGGAGCTTGTAGTCTGCAAGATCCGAGTCGACCTTGTTTGCTGTCCTCAGGGAGTCGGAGGCGATGTCCAGGCTCAGGGCAGGCGGTGGGCGCGGGGGCAGCAGGCTGGGCAGCCTGGGCGAGCTCCCCGCCACGGCGGCGTCTCTGTGCGGGAGGTTCGGGGAGCTGCTGGCCACCCCAGAGAGAGGGTTACCCCCCCGAGGACGGGCTCCCTCTCTCACTGCTCAGGACCCCGCGGGACTTGGGGATTTCCTGCAAGGAGGTGCTCAGGCAGGGCGGGGAGCAGCTGTGGGCGGGGGCCCCGGGGCCCTCGCTCTGCACTGAGCCCCTGGAGGGACTGGTCCCATTCCGGGCTTCCAGGTCCTCCTGGCTGCCTCGAAAACGCCTCCTCCTCCAGCCCTTGTCGTCCAGGGACAGGGCTCGCTCCAGTCGAGGCCTGGCGGGGGGCCGCGGGGCGATGGGTGCTGCTCGGGCTGGCGGGTCCTCGCCGCTGGGCGTGGCCGGAGTGCTGCAGGCAAGCGCGGGGCTCTCGGAGCCCGGAGCATCGGGTGGGGACCCCGCGCGCTGGGCCGGCGGAGCGCCGGGAAGCTGTCCTTGGAGCGTCCTCCCTTCCGGCGGCTGCGGGGCCGGCTCGGAGGGCCGCAGATTCTCCGCCTTGGACGGCATGGACGGTCTCTCCCGGGGCAGGCCTCGGCGCGAGGCCGCAGGCAGCGCGAGGGGTCACGGGTGCCGGGTCCGGGGTCGCCGGCGCAGCGAGGAGCAGAAACGCCGCTGCGGCTCCCGCTTGGGCCGGGGATGGTCGCGGAGGGGCGGGGGCGGCTGCCGCATGGCCCGGGCCCCGAGTCCCGCCAGCCCCTCGGGGCTCCCAGACGCCGTTCCCAGGGCGGTCCGCAGGCAAGGCCTGGGGGAACAGGCGGCTGGGCGCCTGTCGCGGGGGAGGTTCGACCCCGACGGGGACGCCGCTCGGGGAGAGGGGTGGGAAGCGGGCACCCCTGGCTGGGCTCGCAGACTCCGAAGTCGACCCGGTACTCGCGGAGGCCCGGCCGCCCAGAAGCGGAGTCAGCCCGGCCGGGACCCAGCAACCGCCGCCGCGGGGCCGCGCCCGGTCCCCGCCCCGCGCCCCGGCCCCGCCCACAGCGGCCCCTGGCGGCCGGAGGACTGCGCCGCACCGGACCCGGACGGGTCTCCCACGCCCCTCCCAACCCGGCAGCCCCGCAGTCCGGCAGGTCCCAGCGAGGCAGGTGCAGGTCCCCGGAGAGGACCTGGGTGCGGTCCAGGACAGCGCCGAGGCCTGCGGACACCTGCACTCACTCGCTTCCAGCAAACCAAAGGGAACCACAGGTGAAGGTGCTTGAAGGAGCGCAAAATATTTTATTCAACAATTTGCAATGTAACAATTCTCATTTAGGAAAAATAGCCGCTCCCGCCTGGAGGAAGCTTCTTGAATCAAAAGTCGTGGCAGTCGACCCCAGAACAGCGGGCAGAGCCGACCGGAAGAGGTCCCAGGATTCACACGAGCTGACCGAGGGACAGAGAGGGCTGCCCCGTCACAGGGACTGGCCTTTCTCCAAGTGACAAGGACAAATGGATCCAGCGGGACACGCCTGTGGAACATTTTGGAAAACATCCTGGGTGGTCTGGGCTAAATGATCAAGTGAAACAGAAAGCCAGGAAGGATCTGTGCTAATTCCACATTCTACAATTTCTACACTTAAATTTAAAACACCAAACAGTTTGTATTCCTCCAGCAGAACCTACAGAAATTATCTACTGATTTTTATTAGTATTTAAATCTTTTCTTCAGTCTCTTTAGACTTGACAAGAATACGAAGAGTTTCAGAACAGTCAGAGAAGCCTTAAAGCTTTGCATCAGTGAGAGGAGGCCCGTCTCTGAGTTGAACAGGGTTGAGTCCACCAGGAGCTACTCAAAGTCTCAGTGTGGCAAAACTCGGGGCAGAAATACTAAGTTCCAGAGCTGCTGTCAAGAAACTGTGTTAAGATACTCTCCCCAAGTGCTACCAACCTCTGAACCAACGTCCCCCAGGGGAGAAAGTGGGTCATGTGGATTGTACCACGAAAAGTGCTCACGGAAAGTGCAGCCTTTTAGAGAAGTGCATCCAGCTTCCTTAACAGTGAGTCTAACCGTGCTCCTACACACGAAATGAAGCCCAAATCAAACATCACACGGTCAGTTTTCAACCTGGATGACCACCCTGAGCCATCATGTCAGACAGCCGGC | pathogenic | 155,149 |
The genetic variant at chromosome 9, position 136438946, affecting gene INPP5E (inositol polyphosphate-5-phosphatase E): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Familial_aplasia_of_the_vermis', 'INPP5E-related_disorder', 'Joubert_syndrome_and_related_disorders', 'Retinal_dystrophy'] | CGTCAACCCTCGTTTCCTGGTTGTTTGAAAACAATGACTTGAGGGTCCAAATTTGAGACACGACTGTCCTTTTCTCTAACAGGTGTATCTACGTCAACCGGATCTAATTTTAAAATGTGATGCTTTAGATGCACTAAGAAATCTCACTCTTTACGAGAAGCCCTGCAGTGAATTATTTTAACAAAAGCAGCAGTCTTGCCCTGGATGTGATCGCACCTGCTCCATCCATGACAGGAGGAGAGTATGGTGGGGGCGCCAGGCACGGGCCCTCACTCCAGGCCTGAGCCCACCTGCCTGCTGGTGCACCACAGACGCGGGGAAGTGAGGCTACCTTCGGGGACTGTGGTGAGCTGAACAGTGATCCCCAAAGCCATGTCCACTCCCAGAGCCCCAGAACCTTGGAATGGGACCTTATTCGGAAACGGGGTCTTTGCAAACGTGTTTAATTAAGGATCTCGAGATAAGACCACCCTGGATTTAGGGTAGGCAGTAAATTCAATGACTGGTGTCCTTATAAAAAGAGAGGGGAACACAGAGAGACAGGGAAGAGGCCACATAAAGACAGAGGCAGAGACTGGAGCATGCGGCCACAAGCCAAGGAACAAGTGGGGCCCCAGGAGCGGGAGGCAGCGGGAGGACCCTCCCCTGAGCCTCTGGAGAGAGGCTGCGTGGCCACACCTTGATTTTAGACTTCTGGCCTCTAGAACTGGGAGAGAGTCCAGCTCTGCTGTTGCAAGCCTCCCAGTCTGTGGTCATGAGTTACAACGGCCCCAGGACACCAACACAGAAACCACCTCACACCTCTCCCTTCTCACACCTGTCCTGCCTCCCGCCGCGGCTGACAGACAAGACTTGGGCACCATGGCAGTGGGGTGGGGGGAGGAAAAGAAGGGTGCAGGTGACTCTGCCAAGTCATAGTGGGAGCATCTCAGGACAGGCCCCCAGACTGAGACCCCAAGACAAGACCAGGCTTGGGAGAGGTCATGGGTTCAGCTGCAGTTCCTTCCAGCAACAGCTGGAGCCCACCAAAATGTTCCTCATGAGCAAGTGGCTAAACGAAAGTAGCCTCAACACATCTGGGGCCTCTTGCCGCAGAAAAAAACAAAGGGGGCAGGCCGGGCGCAGTGGCCCACGCCGGGAATCCCAGCACTTTGGGAGGCCGAGGCCAGGAGTTCGAGACCAGCCTCGCCAACACGGCGAAACCCCGCCCCTACTAAAAATACAAAATTTAGCTGGGTGTGGTGGCGGGCGCCTGTAATCCCAGATTCTCAGGAGGCTGCGGCAGGAGGATCCCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGGGATCGCGCCGCTGCACTCCAGCCTGGGCGACAGAGAGAGTAACAAACAAAAACAACCAAAGGGGCGGATCGTATACATTGACGACATTTCCCAAGACTAAACAAGAAAAAGCGCCAGATACGTAATTGTATGCAGGATGCCATCCTGTCTACCTTAACACAACGTCACGCCCACGAATGGTTCTGAAACGCACAGGAAAAGTTCTGGGAAGGGCGCTGCTGTGGGGTGGGGCTGGGAGATGGGGTGGCTGCGGGAGACCCGCTTCGTTCTTTCCGGTTAGGCATCTTAAACGCTGCTGATGGGAACGGTCTCACGAGGTTCCAGCAGCCTGAACACTACAACGAAGGCGGCGCGGGCGCTGCACCCGCCAGGCCCTCCCTACCTGCTGCGGACGTCCTTGCTGCGGATGGGCGCCAGGAGGCTGAAGGAGGATTTGGCCGAGCGAAGGGAACAGTCGTCGCAGGCCAGGGGGCTCCGCGGCCGGCCGGGGCCCAGGCTGCTGTGGGCCCGCACCAGGAGCGGCTGCGCGCGGAGCTTGTAGTCTGCAAGATCCGAGTCGACCTTGTTTGCTGTCCTCAGGGAGTCGGAGGCGATGTCCAGGCTCAGGGCAGGCGGTGGGCGCGGGGGCAGCAGGCTGGGCAGCCTGGGCGAGCTCCCCGCCACGGCGGCGTCTCTGTGCGGGAGGTTCGGGGAGCTGCTGGCCACCCCAGAGAGAGGGTTACCCCCCGAGGACGGGCTCCCTCTCTCACTGCTCAGGACCCCGCGGGACTTGGGGATTTCCTGCAAGGAGGTGCTCAGGCAGGGCGGGGAGCAGCTGTGGGCGGGGGCCCCGGGGCCCTCGCTCTGCACTGAGCCCCTGGAGGGACTGGTCCCATTCCGGGCTTCCAGGTCCTCCTGGCTGCCTCGAAAACGCCTCCTCCTCCAGCCCTTGTCGTCCAGGGACAGGGCTCGCTCCAGTCGAGGCCTGGCGGGGGGCCGCGGGGCGATGGGTGCTGCTCGGGCTGGCGGGTCCTCGCCGCTGGGCGTGGCCGGAGTGCTGCAGGCAAGCGCGGGGCTCTCGGAGCCCGGAGCATCGGGTGGGGACCCCGCGCGCTGGGCCGGCGGAGCGCCGGGAAGCTGTCCTTGGAGCGTCCTCCCTTCCGGCGGCTGCGGGGCCGGCTCGGAGGGCCGCAGATTCTCCGCCTTGGACGGCATGGACGGTCTCTCCCGGGGCAGGCCTCGGCGCGAGGCCGCAGGCAGCGCGAGGGGTCACGGGTGCCGGGTCCGGGGTCGCCGGCGCAGCGAGGAGCAGAAACGCCGCTGCGGCTCCCGCTTGGGCCGGGGATGGTCGCGGAGGGGCGGGGGCGGCTGCCGCATGGCCCGGGCCCCGAGTCCCGCCAGCCCCTCGGGGCTCCCAGACGCCGTTCCCAGGGCGGTCCGCAGGCAAGGCCTGGGGGAACAGGCGGCTGGGCGCCTGTCGCGGGGGAGGTTCGACCCCGACGGGGACGCCGCTCGGGGAGAGGGGTGGGAAGCGGGCACCCCTGGCTGGGCTCGCAGACTCCGAAGTCGACCCGGTACTCGCGGAGGCCCGGCCGCCCAGAAGCGGAGTCAGCCCGGCCGGGACCCAGCAACCGCCGCCGCGGGGCCGCGCCCGGTCCCCGCCCCGCGCCCCGGCCCCGCCCACAGCGGCCCCTGGCGGCCGGAGGACTGCGCCGCACCGGACCCGGACGGGTCTCCCACGCCCCTCCCAACCCGGCAGCCCCGCAGTCCGGCAGGTCCCAGCGAGGCAGGTGCAGGTCCCCGGAGAGGACCTGGGTGCGGTCCAGGACAGCGCCGAGGCCTGCGGACACCTGCACTCACTCGCTTCCAGCAAACCAAAGGGAACCACAGGTGAAGGTGCTTGAAGGAGCGCAAAATATTTTATTCAACAATTTGCAATGTAACAATTCTCATTTAGGAAAAATAGCCGCTCCCGCCTGGAGGAAGCTTCTTGAATCAAAAGTCGTGGCAGTCGACCCCAGAACAGCGGGCAGAGCCGACCGGAAGAGGTCCCAGGATTCACACGAGCTGACCGAGGGACAGAGAGGGCTGCCCCGTCACAGGGACTGGCCTTTCTCCAAGTGACAAGGACAAATGGATCCAGCGGGACACGCCTGTGGAACATTTTGGAAAACATCCTGGGTGGTCTGGGCTAAATGATCAAGTGAAACAGAAAGCCAGGAAGGATCTGTGCTAATTCCACATTCTACAATTTCTACACTTAAATTTAAAACACCAAACAGTTTGTATTCCTCCAGCAGAACCTACAGAAATTATCTACTGATTTTTATTAGTATTTAAATCTTTTCTTCAGTCTCTTTAGACTTGACAAGAATACGAAGAGTTTCAGAACAGTCAGAGAAGCCTTAAAGCTTTGCATCAGTGAGAGGAGGCCCGTCTCTGAGTTGAACAGGGTTGAGTCCACCAGGAGCTACTCAAAGTCTCAGTGTGGCAAAACTCGGGGCAGAAATACTAAGTTCCAGAGCTGCTGTCAAGAAACTGTGTTAAGATACTCTCCCCAAGTGCTACCAACCTCTGAACCAACGTCCCCCAGGGGAGAAAGTGGGTCATGTGGATTGTACCACGAAAAGTGCTCACGGAAAGTGCAGCCTTTTAGAGAAGTGCATCCAGCTTCCTTAACAGTGAGTCTAACCGTGCTCCTACACACGAAATGAAGCCCAAATCAAACATCACACGGTCAGTTTTCAACCTGGATGACCACCCTGAGCCATCATGTCAGACAGCCGGCT | CGTCAACCCTCGTTTCCTGGTTGTTTGAAAACAATGACTTGAGGGTCCAAATTTGAGACACGACTGTCCTTTTCTCTAACAGGTGTATCTACGTCAACCGGATCTAATTTTAAAATGTGATGCTTTAGATGCACTAAGAAATCTCACTCTTTACGAGAAGCCCTGCAGTGAATTATTTTAACAAAAGCAGCAGTCTTGCCCTGGATGTGATCGCACCTGCTCCATCCATGACAGGAGGAGAGTATGGTGGGGGCGCCAGGCACGGGCCCTCACTCCAGGCCTGAGCCCACCTGCCTGCTGGTGCACCACAGACGCGGGGAAGTGAGGCTACCTTCGGGGACTGTGGTGAGCTGAACAGTGATCCCCAAAGCCATGTCCACTCCCAGAGCCCCAGAACCTTGGAATGGGACCTTATTCGGAAACGGGGTCTTTGCAAACGTGTTTAATTAAGGATCTCGAGATAAGACCACCCTGGATTTAGGGTAGGCAGTAAATTCAATGACTGGTGTCCTTATAAAAAGAGAGGGGAACACAGAGAGACAGGGAAGAGGCCACATAAAGACAGAGGCAGAGACTGGAGCATGCGGCCACAAGCCAAGGAACAAGTGGGGCCCCAGGAGCGGGAGGCAGCGGGAGGACCCTCCCCTGAGCCTCTGGAGAGAGGCTGCGTGGCCACACCTTGATTTTAGACTTCTGGCCTCTAGAACTGGGAGAGAGTCCAGCTCTGCTGTTGCAAGCCTCCCAGTCTGTGGTCATGAGTTACAACGGCCCCAGGACACCAACACAGAAACCACCTCACACCTCTCCCTTCTCACACCTGTCCTGCCTCCCGCCGCGGCTGACAGACAAGACTTGGGCACCATGGCAGTGGGGTGGGGGGAGGAAAAGAAGGGTGCAGGTGACTCTGCCAAGTCATAGTGGGAGCATCTCAGGACAGGCCCCCAGACTGAGACCCCAAGACAAGACCAGGCTTGGGAGAGGTCATGGGTTCAGCTGCAGTTCCTTCCAGCAACAGCTGGAGCCCACCAAAATGTTCCTCATGAGCAAGTGGCTAAACGAAAGTAGCCTCAACACATCTGGGGCCTCTTGCCGCAGAAAAAAACAAAGGGGGCAGGCCGGGCGCAGTGGCCCACGCCGGGAATCCCAGCACTTTGGGAGGCCGAGGCCAGGAGTTCGAGACCAGCCTCGCCAACACGGCGAAACCCCGCCCCTACTAAAAATACAAAATTTAGCTGGGTGTGGTGGCGGGCGCCTGTAATCCCAGATTCTCAGGAGGCTGCGGCAGGAGGATCCCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGGGATCGCGCCGCTGCACTCCAGCCTGGGCGACAGAGAGAGTAACAAACAAAAACAACCAAAGGGGCGGATCGTATACATTGACGACATTTCCCAAGACTAAACAAGAAAAAGCGCCAGATACGTAATTGTATGCAGGATGCCATCCTGTCTACCTTAACACAACGTCACGCCCACGAATGGTTCTGAAACGCACAGGAAAAGTTCTGGGAAGGGCGCTGCTGTGGGGTGGGGCTGGGAGATGGGGTGGCTGCGGGAGACCCGCTTCGTTCTTTCCGGTTAGGCATCTTAAACGCTGCTGATGGGAACGGTCTCACGAGGTTCCAGCAGCCTGAACACTACAACGAAGGCGGCGCGGGCGCTGCACCCGCCAGGCCCTCCCTACCTGCTGCGGACGTCCTTGCTGCGGATGGGCGCCAGGAGGCTGAAGGAGGATTTGGCCGAGCGAAGGGAACAGTCGTCGCAGGCCAGGGGGCTCCGCGGCCGGCCGGGGCCCAGGCTGCTGTGGGCCCGCACCAGGAGCGGCTGCGCGCGGAGCTTGTAGTCTGCAAGATCCGAGTCGACCTTGTTTGCTGTCCTCAGGGAGTCGGAGGCGATGTCCAGGCTCAGGGCAGGCGGTGGGCGCGGGGGCAGCAGGCTGGGCAGCCTGGGCGAGCTCCCCGCCACGGCGGCGTCTCTGTGCGGGAGGTTCGGGGAGCTGCTGGCCACCCCAGAGAGAGGGTTACCCCCGAGGACGGGCTCCCTCTCTCACTGCTCAGGACCCCGCGGGACTTGGGGATTTCCTGCAAGGAGGTGCTCAGGCAGGGCGGGGAGCAGCTGTGGGCGGGGGCCCCGGGGCCCTCGCTCTGCACTGAGCCCCTGGAGGGACTGGTCCCATTCCGGGCTTCCAGGTCCTCCTGGCTGCCTCGAAAACGCCTCCTCCTCCAGCCCTTGTCGTCCAGGGACAGGGCTCGCTCCAGTCGAGGCCTGGCGGGGGGCCGCGGGGCGATGGGTGCTGCTCGGGCTGGCGGGTCCTCGCCGCTGGGCGTGGCCGGAGTGCTGCAGGCAAGCGCGGGGCTCTCGGAGCCCGGAGCATCGGGTGGGGACCCCGCGCGCTGGGCCGGCGGAGCGCCGGGAAGCTGTCCTTGGAGCGTCCTCCCTTCCGGCGGCTGCGGGGCCGGCTCGGAGGGCCGCAGATTCTCCGCCTTGGACGGCATGGACGGTCTCTCCCGGGGCAGGCCTCGGCGCGAGGCCGCAGGCAGCGCGAGGGGTCACGGGTGCCGGGTCCGGGGTCGCCGGCGCAGCGAGGAGCAGAAACGCCGCTGCGGCTCCCGCTTGGGCCGGGGATGGTCGCGGAGGGGCGGGGGCGGCTGCCGCATGGCCCGGGCCCCGAGTCCCGCCAGCCCCTCGGGGCTCCCAGACGCCGTTCCCAGGGCGGTCCGCAGGCAAGGCCTGGGGGAACAGGCGGCTGGGCGCCTGTCGCGGGGGAGGTTCGACCCCGACGGGGACGCCGCTCGGGGAGAGGGGTGGGAAGCGGGCACCCCTGGCTGGGCTCGCAGACTCCGAAGTCGACCCGGTACTCGCGGAGGCCCGGCCGCCCAGAAGCGGAGTCAGCCCGGCCGGGACCCAGCAACCGCCGCCGCGGGGCCGCGCCCGGTCCCCGCCCCGCGCCCCGGCCCCGCCCACAGCGGCCCCTGGCGGCCGGAGGACTGCGCCGCACCGGACCCGGACGGGTCTCCCACGCCCCTCCCAACCCGGCAGCCCCGCAGTCCGGCAGGTCCCAGCGAGGCAGGTGCAGGTCCCCGGAGAGGACCTGGGTGCGGTCCAGGACAGCGCCGAGGCCTGCGGACACCTGCACTCACTCGCTTCCAGCAAACCAAAGGGAACCACAGGTGAAGGTGCTTGAAGGAGCGCAAAATATTTTATTCAACAATTTGCAATGTAACAATTCTCATTTAGGAAAAATAGCCGCTCCCGCCTGGAGGAAGCTTCTTGAATCAAAAGTCGTGGCAGTCGACCCCAGAACAGCGGGCAGAGCCGACCGGAAGAGGTCCCAGGATTCACACGAGCTGACCGAGGGACAGAGAGGGCTGCCCCGTCACAGGGACTGGCCTTTCTCCAAGTGACAAGGACAAATGGATCCAGCGGGACACGCCTGTGGAACATTTTGGAAAACATCCTGGGTGGTCTGGGCTAAATGATCAAGTGAAACAGAAAGCCAGGAAGGATCTGTGCTAATTCCACATTCTACAATTTCTACACTTAAATTTAAAACACCAAACAGTTTGTATTCCTCCAGCAGAACCTACAGAAATTATCTACTGATTTTTATTAGTATTTAAATCTTTTCTTCAGTCTCTTTAGACTTGACAAGAATACGAAGAGTTTCAGAACAGTCAGAGAAGCCTTAAAGCTTTGCATCAGTGAGAGGAGGCCCGTCTCTGAGTTGAACAGGGTTGAGTCCACCAGGAGCTACTCAAAGTCTCAGTGTGGCAAAACTCGGGGCAGAAATACTAAGTTCCAGAGCTGCTGTCAAGAAACTGTGTTAAGATACTCTCCCCAAGTGCTACCAACCTCTGAACCAACGTCCCCCAGGGGAGAAAGTGGGTCATGTGGATTGTACCACGAAAAGTGCTCACGGAAAGTGCAGCCTTTTAGAGAAGTGCATCCAGCTTCCTTAACAGTGAGTCTAACCGTGCTCCTACACACGAAATGAAGCCCAAATCAAACATCACACGGTCAGTTTTCAACCTGGATGACCACCCTGAGCCATCATGTCAGACAGCCGGCTN | pathogenic | 155,150 |
Is the chromosome 9, position 136439409 variant in INPP5E (inositol polyphosphate-5-phosphatase E) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Familial_aplasia_of_the_vermis'] | AGACCACCCTGGATTTAGGGTAGGCAGTAAATTCAATGACTGGTGTCCTTATAAAAAGAGAGGGGAACACAGAGAGACAGGGAAGAGGCCACATAAAGACAGAGGCAGAGACTGGAGCATGCGGCCACAAGCCAAGGAACAAGTGGGGCCCCAGGAGCGGGAGGCAGCGGGAGGACCCTCCCCTGAGCCTCTGGAGAGAGGCTGCGTGGCCACACCTTGATTTTAGACTTCTGGCCTCTAGAACTGGGAGAGAGTCCAGCTCTGCTGTTGCAAGCCTCCCAGTCTGTGGTCATGAGTTACAACGGCCCCAGGACACCAACACAGAAACCACCTCACACCTCTCCCTTCTCACACCTGTCCTGCCTCCCGCCGCGGCTGACAGACAAGACTTGGGCACCATGGCAGTGGGGTGGGGGGAGGAAAAGAAGGGTGCAGGTGACTCTGCCAAGTCATAGTGGGAGCATCTCAGGACAGGCCCCCAGACTGAGACCCCAAGACAAGACCAGGCTTGGGAGAGGTCATGGGTTCAGCTGCAGTTCCTTCCAGCAACAGCTGGAGCCCACCAAAATGTTCCTCATGAGCAAGTGGCTAAACGAAAGTAGCCTCAACACATCTGGGGCCTCTTGCCGCAGAAAAAAACAAAGGGGGCAGGCCGGGCGCAGTGGCCCACGCCGGGAATCCCAGCACTTTGGGAGGCCGAGGCCAGGAGTTCGAGACCAGCCTCGCCAACACGGCGAAACCCCGCCCCTACTAAAAATACAAAATTTAGCTGGGTGTGGTGGCGGGCGCCTGTAATCCCAGATTCTCAGGAGGCTGCGGCAGGAGGATCCCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGGGATCGCGCCGCTGCACTCCAGCCTGGGCGACAGAGAGAGTAACAAACAAAAACAACCAAAGGGGCGGATCGTATACATTGACGACATTTCCCAAGACTAAACAAGAAAAAGCGCCAGATACGTAATTGTATGCAGGATGCCATCCTGTCTACCTTAACACAACGTCACGCCCACGAATGGTTCTGAAACGCACAGGAAAAGTTCTGGGAAGGGCGCTGCTGTGGGGTGGGGCTGGGAGATGGGGTGGCTGCGGGAGACCCGCTTCGTTCTTTCCGGTTAGGCATCTTAAACGCTGCTGATGGGAACGGTCTCACGAGGTTCCAGCAGCCTGAACACTACAACGAAGGCGGCGCGGGCGCTGCACCCGCCAGGCCCTCCCTACCTGCTGCGGACGTCCTTGCTGCGGATGGGCGCCAGGAGGCTGAAGGAGGATTTGGCCGAGCGAAGGGAACAGTCGTCGCAGGCCAGGGGGCTCCGCGGCCGGCCGGGGCCCAGGCTGCTGTGGGCCCGCACCAGGAGCGGCTGCGCGCGGAGCTTGTAGTCTGCAAGATCCGAGTCGACCTTGTTTGCTGTCCTCAGGGAGTCGGAGGCGATGTCCAGGCTCAGGGCAGGCGGTGGGCGCGGGGGCAGCAGGCTGGGCAGCCTGGGCGAGCTCCCCGCCACGGCGGCGTCTCTGTGCGGGAGGTTCGGGGAGCTGCTGGCCACCCCAGAGAGAGGGTTACCCCCCGAGGACGGGCTCCCTCTCTCACTGCTCAGGACCCCGCGGGACTTGGGGATTTCCTGCAAGGAGGTGCTCAGGCAGGGCGGGGAGCAGCTGTGGGCGGGGGCCCCGGGGCCCTCGCTCTGCACTGAGCCCCTGGAGGGACTGGTCCCATTCCGGGCTTCCAGGTCCTCCTGGCTGCCTCGAAAACGCCTCCTCCTCCAGCCCTTGTCGTCCAGGGACAGGGCTCGCTCCAGTCGAGGCCTGGCGGGGGGCCGCGGGGCGATGGGTGCTGCTCGGGCTGGCGGGTCCTCGCCGCTGGGCGTGGCCGGAGTGCTGCAGGCAAGCGCGGGGCTCTCGGAGCCCGGAGCATCGGGTGGGGACCCCGCGCGCTGGGCCGGCGGAGCGCCGGGAAGCTGTCCTTGGAGCGTCCTCCCTTCCGGCGGCTGCGGGGCCGGCTCGGAGGGCCGCAGATTCTCCGCCTTGGACGGCATGGACGGTCTCTCCCGGGGCAGGCCTCGGCGCGAGGCCGCAGGCAGCGCGAGGGGTCACGGGTGCCGGGTCCGGGGTCGCCGGCGCAGCGAGGAGCAGAAACGCCGCTGCGGCTCCCGCTTGGGCCGGGGATGGTCGCGGAGGGGCGGGGGCGGCTGCCGCATGGCCCGGGCCCCGAGTCCCGCCAGCCCCTCGGGGCTCCCAGACGCCGTTCCCAGGGCGGTCCGCAGGCAAGGCCTGGGGGAACAGGCGGCTGGGCGCCTGTCGCGGGGGAGGTTCGACCCCGACGGGGACGCCGCTCGGGGAGAGGGGTGGGAAGCGGGCACCCCTGGCTGGGCTCGCAGACTCCGAAGTCGACCCGGTACTCGCGGAGGCCCGGCCGCCCAGAAGCGGAGTCAGCCCGGCCGGGACCCAGCAACCGCCGCCGCGGGGCCGCGCCCGGTCCCCGCCCCGCGCCCCGGCCCCGCCCACAGCGGCCCCTGGCGGCCGGAGGACTGCGCCGCACCGGACCCGGACGGGTCTCCCACGCCCCTCCCAACCCGGCAGCCCCGCAGTCCGGCAGGTCCCAGCGAGGCAGGTGCAGGTCCCCGGAGAGGACCTGGGTGCGGTCCAGGACAGCGCCGAGGCCTGCGGACACCTGCACTCACTCGCTTCCAGCAAACCAAAGGGAACCACAGGTGAAGGTGCTTGAAGGAGCGCAAAATATTTTATTCAACAATTTGCAATGTAACAATTCTCATTTAGGAAAAATAGCCGCTCCCGCCTGGAGGAAGCTTCTTGAATCAAAAGTCGTGGCAGTCGACCCCAGAACAGCGGGCAGAGCCGACCGGAAGAGGTCCCAGGATTCACACGAGCTGACCGAGGGACAGAGAGGGCTGCCCCGTCACAGGGACTGGCCTTTCTCCAAGTGACAAGGACAAATGGATCCAGCGGGACACGCCTGTGGAACATTTTGGAAAACATCCTGGGTGGTCTGGGCTAAATGATCAAGTGAAACAGAAAGCCAGGAAGGATCTGTGCTAATTCCACATTCTACAATTTCTACACTTAAATTTAAAACACCAAACAGTTTGTATTCCTCCAGCAGAACCTACAGAAATTATCTACTGATTTTTATTAGTATTTAAATCTTTTCTTCAGTCTCTTTAGACTTGACAAGAATACGAAGAGTTTCAGAACAGTCAGAGAAGCCTTAAAGCTTTGCATCAGTGAGAGGAGGCCCGTCTCTGAGTTGAACAGGGTTGAGTCCACCAGGAGCTACTCAAAGTCTCAGTGTGGCAAAACTCGGGGCAGAAATACTAAGTTCCAGAGCTGCTGTCAAGAAACTGTGTTAAGATACTCTCCCCAAGTGCTACCAACCTCTGAACCAACGTCCCCCAGGGGAGAAAGTGGGTCATGTGGATTGTACCACGAAAAGTGCTCACGGAAAGTGCAGCCTTTTAGAGAAGTGCATCCAGCTTCCTTAACAGTGAGTCTAACCGTGCTCCTACACACGAAATGAAGCCCAAATCAAACATCACACGGTCAGTTTTCAACCTGGATGACCACCCTGAGCCATCATGTCAGACAGCCGGCTCTCTGGGGCTCCTTCCCAGTGACTGGGCCACACGGTGGGCAGTCCCCAGCGCTTTGGGTACACAAAATCACCCATGGTCCTCATCAGGCCACAGAAAGTAAAGTGAGGCTGGAAGCGTCTTTGCAACAGGAAAGAAATTCACTGCAGTAACTAAGGCCTCTCTCAAAAACCGTGAACTAATGCCGAAGGAACCCCACGGCTCCTCGGAGGCGCTGATTGAGAACACAGCGCCCTCCACTCATTCAGCCAGGTTCAAACACGGCGAGGGCCCAGATGGTGCAGAGCAGGGGTTGGGGTCTGCCTCAGTCACCCTCTCTTTGCTCCCAGCACCTTAAAGGAAGCGCGGGACTCACTGGGCAGTGACTCACAGCTGGGCTTGGAGAGGCCCTGGTTACTACCGACCATGTGGCTCTCCTGTGGCAGAGACAGCTCCGGCTTCAATGAATGAACATTCTTAAATGAC | AGACCACCCTGGATTTAGGGTAGGCAGTAAATTCAATGACTGGTGTCCTTATAAAAAGAGAGGGGAACACAGAGAGACAGGGAAGAGGCCACATAAAGACAGAGGCAGAGACTGGAGCATGCGGCCACAAGCCAAGGAACAAGTGGGGCCCCAGGAGCGGGAGGCAGCGGGAGGACCCTCCCCTGAGCCTCTGGAGAGAGGCTGCGTGGCCACACCTTGATTTTAGACTTCTGGCCTCTAGAACTGGGAGAGAGTCCAGCTCTGCTGTTGCAAGCCTCCCAGTCTGTGGTCATGAGTTACAACGGCCCCAGGACACCAACACAGAAACCACCTCACACCTCTCCCTTCTCACACCTGTCCTGCCTCCCGCCGCGGCTGACAGACAAGACTTGGGCACCATGGCAGTGGGGTGGGGGGAGGAAAAGAAGGGTGCAGGTGACTCTGCCAAGTCATAGTGGGAGCATCTCAGGACAGGCCCCCAGACTGAGACCCCAAGACAAGACCAGGCTTGGGAGAGGTCATGGGTTCAGCTGCAGTTCCTTCCAGCAACAGCTGGAGCCCACCAAAATGTTCCTCATGAGCAAGTGGCTAAACGAAAGTAGCCTCAACACATCTGGGGCCTCTTGCCGCAGAAAAAAACAAAGGGGGCAGGCCGGGCGCAGTGGCCCACGCCGGGAATCCCAGCACTTTGGGAGGCCGAGGCCAGGAGTTCGAGACCAGCCTCGCCAACACGGCGAAACCCCGCCCCTACTAAAAATACAAAATTTAGCTGGGTGTGGTGGCGGGCGCCTGTAATCCCAGATTCTCAGGAGGCTGCGGCAGGAGGATCCCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGGGATCGCGCCGCTGCACTCCAGCCTGGGCGACAGAGAGAGTAACAAACAAAAACAACCAAAGGGGCGGATCGTATACATTGACGACATTTCCCAAGACTAAACAAGAAAAAGCGCCAGATACGTAATTGTATGCAGGATGCCATCCTGTCTACCTTAACACAACGTCACGCCCACGAATGGTTCTGAAACGCACAGGAAAAGTTCTGGGAAGGGCGCTGCTGTGGGGTGGGGCTGGGAGATGGGGTGGCTGCGGGAGACCCGCTTCGTTCTTTCCGGTTAGGCATCTTAAACGCTGCTGATGGGAACGGTCTCACGAGGTTCCAGCAGCCTGAACACTACAACGAAGGCGGCGCGGGCGCTGCACCCGCCAGGCCCTCCCTACCTGCTGCGGACGTCCTTGCTGCGGATGGGCGCCAGGAGGCTGAAGGAGGATTTGGCCGAGCGAAGGGAACAGTCGTCGCAGGCCAGGGGGCTCCGCGGCCGGCCGGGGCCCAGGCTGCTGTGGGCCCGCACCAGGAGCGGCTGCGCGCGGAGCTTGTAGTCTGCAAGATCCGAGTCGACCTTGTTTGCTGTCCTCAGGGAGTCGGAGGCGATGTCCAGGCTCAGGGCAGGCGGTGGGCGCGGGGGCAGCAGGCTGGGCAGCCTGGGCGAGCTCCCCGCCACGGCGGCGTCTCTGTGCGGGAGGTTCGGGGAGCTGCTGGCCACCCCAGAGAGAGGGTTACCCCCCGAGGACGGGCTCCCTCTCTCACTGCTCAGGACCCCGCGGGACTTGGGGATTTCCTGCAAGGAGGTGCTCAGGCAGGGCGGGGAGCAGCTGTGGGCGGGGGCCCCGGGGCCCTCGCTCTGCACTGAGCCCCTGGAGGGACTGGTCCCATTCCGGGCTTCCAGGTCCTCCTGGCTGCCTCGAAAACGCCTCCTCCTCCAGCCCTTGTCGTCCAGGGACAGGGCTCGCTCCAGTCGAGGCCTGGCGGGGGGCCGCGGGGCGATGGGTGCTGCTCGGGCTGGCGGGTCCTCGCCGCTGGGCGTGGCCGGAGTGCTGCAGGCAAGCGCGGGGCTCTCGGAGCCCGGAGCATCGGGTGGGGACCCCGCGCGCTGGGCCGGCGGAGCGCCGGGAAGCTGTCCTTGGAGCGTCCTCCCTTCCGGCGGCTGCGGGGCCGGCTCGGAGGGCCGCAGATTCTCCGCCTTGGACGGTCTCTCCCGGGGCAGGCCTCGGCGCGAGGCCGCAGGCAGCGCGAGGGGTCACGGGTGCCGGGTCCGGGGTCGCCGGCGCAGCGAGGAGCAGAAACGCCGCTGCGGCTCCCGCTTGGGCCGGGGATGGTCGCGGAGGGGCGGGGGCGGCTGCCGCATGGCCCGGGCCCCGAGTCCCGCCAGCCCCTCGGGGCTCCCAGACGCCGTTCCCAGGGCGGTCCGCAGGCAAGGCCTGGGGGAACAGGCGGCTGGGCGCCTGTCGCGGGGGAGGTTCGACCCCGACGGGGACGCCGCTCGGGGAGAGGGGTGGGAAGCGGGCACCCCTGGCTGGGCTCGCAGACTCCGAAGTCGACCCGGTACTCGCGGAGGCCCGGCCGCCCAGAAGCGGAGTCAGCCCGGCCGGGACCCAGCAACCGCCGCCGCGGGGCCGCGCCCGGTCCCCGCCCCGCGCCCCGGCCCCGCCCACAGCGGCCCCTGGCGGCCGGAGGACTGCGCCGCACCGGACCCGGACGGGTCTCCCACGCCCCTCCCAACCCGGCAGCCCCGCAGTCCGGCAGGTCCCAGCGAGGCAGGTGCAGGTCCCCGGAGAGGACCTGGGTGCGGTCCAGGACAGCGCCGAGGCCTGCGGACACCTGCACTCACTCGCTTCCAGCAAACCAAAGGGAACCACAGGTGAAGGTGCTTGAAGGAGCGCAAAATATTTTATTCAACAATTTGCAATGTAACAATTCTCATTTAGGAAAAATAGCCGCTCCCGCCTGGAGGAAGCTTCTTGAATCAAAAGTCGTGGCAGTCGACCCCAGAACAGCGGGCAGAGCCGACCGGAAGAGGTCCCAGGATTCACACGAGCTGACCGAGGGACAGAGAGGGCTGCCCCGTCACAGGGACTGGCCTTTCTCCAAGTGACAAGGACAAATGGATCCAGCGGGACACGCCTGTGGAACATTTTGGAAAACATCCTGGGTGGTCTGGGCTAAATGATCAAGTGAAACAGAAAGCCAGGAAGGATCTGTGCTAATTCCACATTCTACAATTTCTACACTTAAATTTAAAACACCAAACAGTTTGTATTCCTCCAGCAGAACCTACAGAAATTATCTACTGATTTTTATTAGTATTTAAATCTTTTCTTCAGTCTCTTTAGACTTGACAAGAATACGAAGAGTTTCAGAACAGTCAGAGAAGCCTTAAAGCTTTGCATCAGTGAGAGGAGGCCCGTCTCTGAGTTGAACAGGGTTGAGTCCACCAGGAGCTACTCAAAGTCTCAGTGTGGCAAAACTCGGGGCAGAAATACTAAGTTCCAGAGCTGCTGTCAAGAAACTGTGTTAAGATACTCTCCCCAAGTGCTACCAACCTCTGAACCAACGTCCCCCAGGGGAGAAAGTGGGTCATGTGGATTGTACCACGAAAAGTGCTCACGGAAAGTGCAGCCTTTTAGAGAAGTGCATCCAGCTTCCTTAACAGTGAGTCTAACCGTGCTCCTACACACGAAATGAAGCCCAAATCAAACATCACACGGTCAGTTTTCAACCTGGATGACCACCCTGAGCCATCATGTCAGACAGCCGGCTCTCTGGGGCTCCTTCCCAGTGACTGGGCCACACGGTGGGCAGTCCCCAGCGCTTTGGGTACACAAAATCACCCATGGTCCTCATCAGGCCACAGAAAGTAAAGTGAGGCTGGAAGCGTCTTTGCAACAGGAAAGAAATTCACTGCAGTAACTAAGGCCTCTCTCAAAAACCGTGAACTAATGCCGAAGGAACCCCACGGCTCCTCGGAGGCGCTGATTGAGAACACAGCGCCCTCCACTCATTCAGCCAGGTTCAAACACGGCGAGGGCCCAGATGGTGCAGAGCAGGGGTTGGGGTCTGCCTCAGTCACCCTCTCTTTGCTCCCAGCACCTTAAAGGAAGCGCGGGACTCACTGGGCAGTGACTCACAGCTGGGCTTGGAGAGGCCCTGGTTACTACCGACCATGTGGCTCTCCTGTGGCAGAGACAGCTCCGGCTTCAATGAATGAACATTCTTAAATGACNNNNNNNNN | pathogenic | 155,155 |
The mutation in gene NOTCH1 at chromosome 9, position 136499143—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Adams-Oliver_syndrome_5'] | GAGGCCACGTCTGACAGGTAGCCATGGGGTGACTCCAGGGAGTCCACGGGCGAGAGCATGCCGGAGCTGTCCAGCAGGCAGCCCTTGCCGTCCTGGGACTTCTTCCTCCGTGCCTTGAGGTCCTTGGCCTCCTTGCTTCCACAGGCCAGGCCTTTGCTGCTGGGCTTGCGGACCTTCTTGCCCTGCACGCCGGGCTTGAGGCTGCCCAGGTAGCCGTTGGGCGAGCAGAGCGGGGGCGACAGGGTGGGCGTGCCCCCCAGCGGGGCTCCGTGCAGCTGCGGGCTGCGCACCAGGTTGTACTCGTCCAGCAGCCTCACGATGTCGTGATGCATGCGCTCCTGTGCGATGTCGCGCGGCAGGCGGTCCATATGATCCGTGATGTCCCGGTTGGCAAAGTGGTCCAGCAGCACCTTGGCGGTCTCGTAGCTGCCCTCCCGGGCGGCCAGAAACAGGGGTGTCTCCTCCTGGGGGATGAGGGCGGGGGCCGGTGAGGGGGGCCAGGCCAGGCGTGGGGACCCTCCCCAAGGTTCCATCACCAGAGGAAGCAGCAGTACAACCTCCTCCGCGGGGTGGGGGCAGGCAGGCTGCTCCTCAGGACCCCACCCCAGCGTCCTGCAACCACCTAGCCTGACTCTTGTTAAATGTTAAGGCTTTGATACATCTTCTGAAACCCACCCAGAGAGGGGATCTGTGCAGTCCTCTACCCTAGATCAGCGGGGCTCCACCTCTATGGGGGGGTCACAGACCCCACTGAAAATCTAACCAACTGCAGGCCCTCTTCCCTGCCCCCAATAAGGCACAAAAGGAAATTCCTGGAGCGGTTCAGAGGCACCGGCGAGGGCACCAGGGAGGGAGCTCGTCATCTGGACGGCCATCAAGCCACCCTGGTGGCCACCAAGCTCCTTCCTGGGGTCTCCTCTGTGCGGTGGACACGTCACAGGTCTGGGTGAGGCTGCTGTGTGGGAGTGGGAAGGGGCTTCCCAGGCCTTGATGCCCTCTGGGGCCCAGTCTCTGTGGGGCCATGCTGCCACGGACTGGGGAGCGCCTGGGCCAACATGCCCCGGTGCCCAGGCCCGCTGTGTGCCCTCACCCAGGAGGGAGAGACGCCTGAGCCTGACATGCCAAGGGGGCAGCAGGAGTTGGGGGCGGGGGTGGGGGTTCTGGCGGCAGGGAGGTGGGGGTGTCTGCACCTGTGCCCTGAGCACCCAGGGGAAACCAACAGCAGCTGCAGGGCCAGGAGCTGCAGGGCCAGGATGAGGGCTGGGGGTGGCTCCCCTTGGATATAGTCCTGAGACTTCTTCCTCTGAGCCTTGAGGTCCTTGGCCTTGGTGAACACACCAAGAGGCCCCGCCCCGCAGGGAGCTGCCGCCACGCGTGTTCTGGCTCAATCTGCACCACCTGCGTCACCACATTCCCATCCCCACCCCCGCCTGGTGACAGCTGGGGACAGAAGGTGAGGTCCAGGTGACGGTGACACAGCAGTGGCAGCAGCAGCGTTCCCCACGCCAGGCTGTGTGCCCCGCCATGACTGCCGCCCAGGAGGGTAGGGCTGGGTCTGAGGGGCGAGCCGCCGTGTCCTGACAGCTGGACCTGCACTTGGAAGGGCTCCATAAACGGGGGCTGAAGGAAGGCAGGAGCACTAACGAGGTGCCCGCATCATGCGGGTGGGGCCCACATGCGGGCCCAGCGACCCTCGAGACCCTGTGGGTCAGGCCCTTGTGTCCCTGCGCCCCGTGGGTTTGGCCCTCACTTCTCTGTGGATTCAGCCCTCACGTCTCCCCTGGCATCCCAGCCTCGCGCTCACCCTGTTGTTCTGCATATCTTTGTTAGCCCCGTTCTTCAGGAGCACAACTGCGGCATCCACATTGTTCACGGCGGCGGCCCAGTGCAGGGCGGACTTGCCTGCGTGAAAGAAGCAGATGGGGTAGGTTGGAGACCAGCTGGAGGCAACCCAGTCCCACCCGTCCCTGTGGCGGTCCCGCCCCACGACAGAGCAGCCGTGCCCCCGTGGGCTCACCCAGGTCATCTACGGCGTTGACGTCGGCGTGTGAGTTGATGAGGTCCTCCAGCATGCCCTCCACGGCCAGGCGGGCAGCCAGGATCAGTGGCGTCGTGCCATCATGCATGCGGGCATCCAGGTCTGTGGCTCGGTTCCGGATCAGGATCTGGGCAACAGGGAGAGGCTCAGGCGGGTGCTGGGCAGACGTACACCGATGCCTCCTGCCCAGAACGAACGCCTGGACGGGAAGCCCCACTGTCTTCCGGACACAGACGAGACCCTCCTGAGATCGGCACGGCCGGGCAAGACGAAACGCCATGGGGCTGCCCCTGAGGAGGGGCCCGGATGGGGGCAGGGGCTGTGCTGCCCACAGACAGGCCCCTTGGTGACAGTGGGATCCATCGTGACCACGTGTGGCCTCATTTAATCCTCACTGTGGTCCTAGCTGCCATGACCACCTACAAAACAGAGAGGTCAAGTCCCTGCCCCCAACGGCGGTTACAGCTGGCACTCAGGAAGCCGGGCTCACGGCCCTACAGCCGTCTCAGAACCGCCGAGCTAGTGTCCGGCTCTGCCCAGAGAGGGGGTGGGCAGCCCTTGTAATGCAGCCGGGTCTTGGCATCTGGCAGGAGGAATGGCCCCTGCTCACTGGCGGGTGCAAAAGGCAACTTGGCCTGATTCCTGCAAAGCACCTGGGAACTTCCACATCTGTGCAAAGAAGGCAGCTGAGAGAGGCACACACCAAACCCGCACGGGGCTCCCTTCCACGCTCTTTCTGCTCACCTACATTTATTTCTGCGAGATGACAATGTGTCACCTGAGCTAAGAAATCAGGAAATGAGAAGCTCTGTGGTAACTCCCCGGGCTGTGCCCATCTGAACCTGCTTGCTCCAGGGCCGCCTGGAGCCTGGGGACTCGCAGCAGGGGTGACTGCAAAGGCAGCCCCTGCCAGGGACACTCCCTGGAGACCCAGGCATCCAAATCCCTAAATCCATTCTTGCCACGAGCTCACCGGCAAGCTGAGCCCTAGGTCTGCAGGCACCGAGCGGCAGCCTCTAAACCCTGCTTCTCACTGCCACAGGCTACGCCGGCAGCCAAGGTTGAGGGAGGGGCGGGGCTGCGAGGGGCTGCAGCAGTGGAACCTGGACCTTGAGCAAGGCCCACAACCCTGATGGAGCCTGTTTTGCTGGGGGTGGGGAGGTGCTGCCTCACTCAGCAGATCCCCCAGGCCTCCTGCCAGACCCGCCTCTGCCTGACTTCCCTGGAGAACACAGATGGGCCCGACGCCCTCCCCCTCGCACCTCGCTGACTGCGAAGGTCCCAGGTGGAGGCACCAGTTGTCCCGGACTCAGCTGTGCTCGGGGTCAGGCTCCCAGGGCCACGTAAGCCTGGCCACTGCCCCAGACCACCAGGCGGCCCTGAGGAGGGCAGGTGGGCACACAGGCAGCCACTGCCTACCTGGAAGACACCTTGTGCGTCGGCAGACACAGCCGCATGCAGCGGGGTGCGGCCCATGTTGTCCTGGATGTTGGCATCTGCGCTGGCCTCCAGCAGGCGCTTGGCGGCATCAGAGCGTGAGTAGCGGGCGGCCAGGTGCAAGGCGGTCTCGCCCGTGCGGTCTGTCTGGTTGTGCAGGCTGGCGCCCTGGTAGATGAAGTCGGAGATGACGGCCGGCGCGTCCTCCTCTTCCTCGCTGTTGCCCGTCTCCAGGCCGCCCCCGCTGCAGGAGGCGATCATGAGCGGGGTGAAGCCATCTGCAGAGGCAGAGACGGGTGCTCAGTCTGGAGGGCCGGTCCCCAGCTGCAGCCCAGGGGGAGGGGGGCAGCAGCCCCAAGCTCAAGGGGCCACGGTGTGGATGCACCACCCAGCACTTGGTGGCCCCGTGCACACAGCCACCAAGGGGCAGCTGAAGTCCGCCTGGGCTGCTCAGTGGACAGAGCCGAATCCAGCTTAAACTCCTGGCGGGCAACTGCTTCCTGACCTGCCCAAGACCTGGCACCCAAAATCCACCCAGGAAAAAGAGGACCCCAGAAGCATGCAGTTAGAAAATTAATGCTTCAGCAGGATGCGGAGGCTCACGCTGTCATCCTAGCACTG | GAGGCCACGTCTGACAGGTAGCCATGGGGTGACTCCAGGGAGTCCACGGGCGAGAGCATGCCGGAGCTGTCCAGCAGGCAGCCCTTGCCGTCCTGGGACTTCTTCCTCCGTGCCTTGAGGTCCTTGGCCTCCTTGCTTCCACAGGCCAGGCCTTTGCTGCTGGGCTTGCGGACCTTCTTGCCCTGCACGCCGGGCTTGAGGCTGCCCAGGTAGCCGTTGGGCGAGCAGAGCGGGGGCGACAGGGTGGGCGTGCCCCCCAGCGGGGCTCCGTGCAGCTGCGGGCTGCGCACCAGGTTGTACTCGTCCAGCAGCCTCACGATGTCGTGATGCATGCGCTCCTGTGCGATGTCGCGCGGCAGGCGGTCCATATGATCCGTGATGTCCCGGTTGGCAAAGTGGTCCAGCAGCACCTTGGCGGTCTCGTAGCTGCCCTCCCGGGCGGCCAGAAACAGGGGTGTCTCCTCCTGGGGGATGAGGGCGGGGGCCGGTGAGGGGGGCCAGGCCAGGCGTGGGGACCCTCCCCAAGGTTCCATCACCAGAGGAAGCAGCAGTACAACCTCCTCCGCGGGGTGGGGGCAGGCAGGCTGCTCCTCAGGACCCCACCCCAGCGTCCTGCAACCACCTAGCCTGACTCTTGTTAAATGTTAAGGCTTTGATACATCTTCTGAAACCCACCCAGAGAGGGGATCTGTGCAGTCCTCTACCCTAGATCAGCGGGGCTCCACCTCTATGGGGGGGTCACAGACCCCACTGAAAATCTAACCAACTGCAGGCCCTCTTCCCTGCCCCCAATAAGGCACAAAAGGAAATTCCTGGAGCGGTTCAGAGGCACCGGCGAGGGCACCAGGGAGGGAGCTCGTCATCTGGACGGCCATCAAGCCACCCTGGTGGCCACCAAGCTCCTTCCTGGGGTCTCCTCTGTGCGGTGGACACGTCACAGGTCTGGGTGAGGCTGCTGTGTGGGAGTGGGAAGGGGCTTCCCAGGCCTTGATGCCCTCTGGGGCCCAGTCTCTGTGGGGCCATGCTGCCACGGACTGGGGAGCGCCTGGGCCAACATGCCCCGGTGCCCAGGCCCGCTGTGTGCCCTCACCCAGGAGGGAGAGACGCCTGAGCCTGACATGCCAAGGGGGCAGCAGGAGTTGGGGGCGGGGGTGGGGGTTCTGGCGGCAGGGAGGTGGGGGTGTCTGCACCTGTGCCCTGAGCACCCAGGGGAAACCAACAGCAGCTGCAGGGCCAGGAGCTGCAGGGCCAGGATGAGGGCTGGGGGTGGCTCCCCTTGGATATAGTCCTGAGACTTCTTCCTCTGAGCCTTGAGGTCCTTGGCCTTGGTGAACACACCAAGAGGCCCCGCCCCGCAGGGAGCTGCCGCCACGCGTGTTCTGGCTCAATCTGCACCACCTGCGTCACCACATTCCCATCCCCACCCCCGCCTGGTGACAGCTGGGGACAGAAGGTGAGGTCCAGGTGACGGTGACACAGCAGTGGCAGCAGCAGCGTTCCCCACGCCAGGCTGTGTGCCCCGCCATGACTGCCGCCCAGGAGGGTAGGGCTGGGTCTGAGGGGCGAGCCGCCGTGTCCTGACAGCTGGACCTGCACTTGGAAGGGCTCCATAAACGGGGGCTGAAGGAAGGCAGGAGCACTAACGAGGTGCCCGCATCATGCGGGTGGGGCCCACATGCGGGCCCAGCGACCCTCGAGACCCTGTGGGTCAGGCCCTTGTGTCCCTGCGCCCCGTGGGTTTGGCCCTCACTTCTCTGTGGATTCAGCCCTCACGTCTCCCCTGGCATCCCAGCCTCGCGCTCACCCTGTTGTTCTGCATATCTTTGTTAGCCCCGTTCTTCAGGAGCACAACTGCGGCATCCACATTGTTCACGGCGGCGGCCCAGTGCAGGGCGGACTTGCCTGCGTGAAAGAAGCAGATGGGGTAGGTTGGAGACCAGCTGGAGGCAACCCAGTCCCACCCGTCCCTGTGGCGGTCCCGCCCCACGACAGAGCAGCCGTGCCCCCGTGGGCTCACCCAGGTCATCTACGGCGTTGACGTCGGCGTGTGTTGATGAGGTCCTCCAGCATGCCCTCCACGGCCAGGCGGGCAGCCAGGATCAGTGGCGTCGTGCCATCATGCATGCGGGCATCCAGGTCTGTGGCTCGGTTCCGGATCAGGATCTGGGCAACAGGGAGAGGCTCAGGCGGGTGCTGGGCAGACGTACACCGATGCCTCCTGCCCAGAACGAACGCCTGGACGGGAAGCCCCACTGTCTTCCGGACACAGACGAGACCCTCCTGAGATCGGCACGGCCGGGCAAGACGAAACGCCATGGGGCTGCCCCTGAGGAGGGGCCCGGATGGGGGCAGGGGCTGTGCTGCCCACAGACAGGCCCCTTGGTGACAGTGGGATCCATCGTGACCACGTGTGGCCTCATTTAATCCTCACTGTGGTCCTAGCTGCCATGACCACCTACAAAACAGAGAGGTCAAGTCCCTGCCCCCAACGGCGGTTACAGCTGGCACTCAGGAAGCCGGGCTCACGGCCCTACAGCCGTCTCAGAACCGCCGAGCTAGTGTCCGGCTCTGCCCAGAGAGGGGGTGGGCAGCCCTTGTAATGCAGCCGGGTCTTGGCATCTGGCAGGAGGAATGGCCCCTGCTCACTGGCGGGTGCAAAAGGCAACTTGGCCTGATTCCTGCAAAGCACCTGGGAACTTCCACATCTGTGCAAAGAAGGCAGCTGAGAGAGGCACACACCAAACCCGCACGGGGCTCCCTTCCACGCTCTTTCTGCTCACCTACATTTATTTCTGCGAGATGACAATGTGTCACCTGAGCTAAGAAATCAGGAAATGAGAAGCTCTGTGGTAACTCCCCGGGCTGTGCCCATCTGAACCTGCTTGCTCCAGGGCCGCCTGGAGCCTGGGGACTCGCAGCAGGGGTGACTGCAAAGGCAGCCCCTGCCAGGGACACTCCCTGGAGACCCAGGCATCCAAATCCCTAAATCCATTCTTGCCACGAGCTCACCGGCAAGCTGAGCCCTAGGTCTGCAGGCACCGAGCGGCAGCCTCTAAACCCTGCTTCTCACTGCCACAGGCTACGCCGGCAGCCAAGGTTGAGGGAGGGGCGGGGCTGCGAGGGGCTGCAGCAGTGGAACCTGGACCTTGAGCAAGGCCCACAACCCTGATGGAGCCTGTTTTGCTGGGGGTGGGGAGGTGCTGCCTCACTCAGCAGATCCCCCAGGCCTCCTGCCAGACCCGCCTCTGCCTGACTTCCCTGGAGAACACAGATGGGCCCGACGCCCTCCCCCTCGCACCTCGCTGACTGCGAAGGTCCCAGGTGGAGGCACCAGTTGTCCCGGACTCAGCTGTGCTCGGGGTCAGGCTCCCAGGGCCACGTAAGCCTGGCCACTGCCCCAGACCACCAGGCGGCCCTGAGGAGGGCAGGTGGGCACACAGGCAGCCACTGCCTACCTGGAAGACACCTTGTGCGTCGGCAGACACAGCCGCATGCAGCGGGGTGCGGCCCATGTTGTCCTGGATGTTGGCATCTGCGCTGGCCTCCAGCAGGCGCTTGGCGGCATCAGAGCGTGAGTAGCGGGCGGCCAGGTGCAAGGCGGTCTCGCCCGTGCGGTCTGTCTGGTTGTGCAGGCTGGCGCCCTGGTAGATGAAGTCGGAGATGACGGCCGGCGCGTCCTCCTCTTCCTCGCTGTTGCCCGTCTCCAGGCCGCCCCCGCTGCAGGAGGCGATCATGAGCGGGGTGAAGCCATCTGCAGAGGCAGAGACGGGTGCTCAGTCTGGAGGGCCGGTCCCCAGCTGCAGCCCAGGGGGAGGGGGGCAGCAGCCCCAAGCTCAAGGGGCCACGGTGTGGATGCACCACCCAGCACTTGGTGGCCCCGTGCACACAGCCACCAAGGGGCAGCTGAAGTCCGCCTGGGCTGCTCAGTGGACAGAGCCGAATCCAGCTTAAACTCCTGGCGGGCAACTGCTTCCTGACCTGCCCAAGACCTGGCACCCAAAATCCACCCAGGAAAAAGAGGACCCCAGAAGCATGCAGTTAGAAAATTAATGCTTCAGCAGGATGCGGAGGCTCACGCTGTCATCCTAGCACTGNN | pathogenic | 155,344 |
Regarding the variant at chromosome 9 and position 136503339, affecting gene NOTCH1 (notch receptor 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | AGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGAGAGGTGGAGGTTGCAGGGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGTGACGGAGCGAGACTCCATCTCAAAAACAAAAAAAAAAGAAAAAAAAAAAGAAAAAGAAAATCAACGCTTTCCATGTCTCAAGAAGGTTTCAGAAAAGAGTAATTTACAGGGACAGAGTGGCCCTGCGGTATCACCCCAGGAAGGGGTTGGTGGAAGAACAGGAGGACTCCAGGACCCCCCCACGTCTACTCTGAATGGGAAACACCCCAAGGATGAAAGCTCTCACCCCCAATTCTAAGTTTCCAGAGTATCAACTGTACCCCAGCCTCGGGGCTTAGGGGAGAGAGGCAGGTGGGCCACGGGGCTAGGGAAGCCCTGGCTGCTGGCACCCTTACCAGGCCCGCGGACATTGACGTCCATGCAGTCGGCGTCAACCTCACCCTGGGGCGGTGTGGGGGCCATGGCAGACATGCGCAGGTCAGCGGCATCCAGGTGCTGCTGAGTCCACTGCCGGTGGTCTGTCTGGTCGTCCAGGTCAGGCAGAACCACGGGCTCCTCGAACTACATAGAGGGAGTGAGCAGAGCCTGTCAGGGCAGCCCGGCAGCAGGTGCCCGGGAGCCCAGGAGCCCGGGAGCCTCGCGACTCACCCGGAACTTCTTGGTCTCCAGGTCCTCGTCCCCCCACTCATTCTGGTTGTCGTCCATGAGGGCACCGTCTGAAGCGTTCTTCAGGGGCCTGGGGGGTGAGGGGTCGAGAAGTGAGGCTGAGCGAGCTCCCTAGGAAGCCCCCAGAGACCCCTGGCCCGGGCCTGGCGTGGGAGGTGGGCCCTGGGTCGGGAGGGGCAGACTCCCGGTGAGGATGCTCGGCCAGGTCCCACCTCCCACCGGGGACCCAGAAGCAGGGGCGGCGTCCGCTCACTTGAGGCCCACGGAGTCCTCGCCGAGGGGCTCCCGCCGCTTCTTCTTGCTGGCCTCAGACACTTTGAAGCCCTCAGGGAACCAGAGCTGGCCATGCTGCCGCCGGCGCTTGCGGGACAGCAGCACCCCGCAGCCCACGAAGAACAGAAGCACAAAGGCGGCCGCCGCCACGTACATGAAGTGCAGCTGCGCCGGCGGGGGCGGCTCCACGGTCTCACCTGCGGGCACGGGGGCCAGGGGCAGGTGCCCGGACATCAGGCAGCGGCTACGCAGCAGGCTGGTGGCCGGGGGGCGGCGGACTGGCTCCGCGTCCGGGCGCCTCCTCACCCACTCTCCTCCATCCCGCCCTCCAAAATAAGGTCATTTTCTACGCGATTAATCAGAATTGCAAACTATCGCTAAATTCTCTCCTGCACCAGCCGACTCTATCTGGAGACGGCTTTTACTTTTTTCTCCTTTAAGGAAGGAGGATTAGTCAACTTCAAATCGCTGCACTCGCACTGAGCTGTTAAGACAAAGGATTTAGAGGGATTTTCAAGATACAAACTTCAACACTTCACATGACACCGATCAATTCTTCTCTCTCTCTCTTTTTTTTTCTTTAAAAAAAGCCGTAATGATTTTGAAATAATACCCAACAAAGAAAATTCAGGAGGAAAGGGTGGGGAGAGAAGCAGGCACCCACTTTCCCGTGGCTGGACTCGTTCCCAGGTGGCTCCACCGGCAGCTGTGACCGCCGCAGGTGGGGGCGGAGTGCCATTCAGAAAATTCCAGAAAAGCCCTACCCCAACTCGGACGGCAACGCTCACACCCGTGGGTAGCAACTGGCACAAACAGCCAGCGTGTCTGGGGCACGGGGGGATGGCACCCCCTGCAGGCAGAGCCTGTTCCCGGGATGGGGCCACACTTACTCTGCACGGCCTCGATCTTGTAGGGGATGTTGAGGCTGCCCAGCGAGGCGAGCGCTCCCAGGAATGCGGCCACGTCGGTGGCACTCTGGAAGCACTGCGAGGAGGCCTGCACACACTGCCGGTTGTCAATCTCCAGGTAGACGATGGAGCTGGGCGGACAATCAGAGAGGGGCTGGGACCCGAGGCTTCCTCCTCCCCCGCCCACCGGCCAGGGATGCTGCCGCAGGACACTGAGGCCCATGACGCCACAGTCAGGACATGGTGAGGCAGCCTGGGGTGGTGGGAAGCCAGGTCTGACAGCAGCTACCCTGCAGGGGACTGGTGCCAGCCCCCCGACTCCGGCCAGTGCTGATCACGGCTCATCCCAGATACCCACCAACGCGCTCTCCCTGGCCCGCCCTGACACCCTCTCTGGCTCCTGCTGGTGCCACAGACACGTTTCCTCATCTCAGGACAGAGTATGTGCCAGGAGCCCAGTCCTCCCCCAGGAGCCATCCCCAGGCCCTGCAGGAAGCACAGGCGTGAGGTGGGGGTGGGTGCAGCGGTGGTGGGCTGTGTGGTGAGGCTGGCTGGGGGTGAGCTCTGCTCCCCAGGACTGGGTTCCCGTGAGCAGGATCCCATCCAGCCTGTGAGATGATGCTTCTGACCTCCAGGATTGCTCCAAGCCAGCAGAACTGACAGGCAAACCCACCAGGGTCAGGCACACGAAGGGCACAACCAACCTGGCTCCTGGGTCCAGCTGCCCCAGATCGAGTAGGCATGGGCGGGAGCCTTGTGGGGTGCCCCCTGCACTCAAGCTGCTCCTGCCTGTGTTCTCCCACCGTGGGACCCCCCACCCCCACCAGCTCCTCCTCCAACTGCAAGGCCCAGCAATGCCCCCTCCCAGGACCTCCACCTGCCTCCTCTCCAGCCCAAGCCAGGCAGACGCCATGACCAAGCGGCATTCTTGTCTGGGGTGGGGCTGTTCAGCCCTGTGGGAACCCCTGGAGAGCTGAGTGTTTTGTTTTTTACTTCTTTTAATACTTTTTTAAAAAAAACAGAGACAAGGTCTCCCTATGTTGCCCAGACTGGTCTCGAACTCCTGGGCTCAAGGGCTCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCTCCTCGCCTGGCAGAGGGCTGAGTTTTAATCAGTGTAGTATCCAGTGCCTAAGGCACAGCTCAATCTCAAAATCACCTACTGGGCACAGGAGTGCCGCCTGTCCAGGGGAAGGCAGTGGCCCAGGAAAAGGGTGTGGCTGTGGGGTCAGGGCCCTGAGCTGGAATGCTGCCTCTACTCCTTGCCTGCGCAGGCCCTGAAGTCCCAGGTCCTCTCGGAACCTCCGTCTCTTTTACCATAAAGTGGGGAGAGTACTGCTTGCCATGGCGCCGGCCGTGAGGGGCAGGGAGGCCGTCGGGGAGGGCCCAGGAGAGTTGCGGGGATTGACCGTGGGCGCCGGGTCTCACTCACCCGCGGACGTCCATGGGGTCCAGCTCCCTCCGCCGCCGCCCACCCTCGCTGCCACCAGGGAGCAGCGAGGCCTTCACCTGGCCCAGCAGGGCGTCAGGTGCGGCCCAGCCCTCGGCGGCACGCTTGATGGGGTGCTTGCGCAGCTCCTCCTCGCGGCCGTAGTAGGGGAAGATCATCTGCTGGCCGTGTGCGTCACGCTTGAAGACCACGTTGGTGTGCAGCACGCGGCTGAGCTCCCGCAGGAAGTGGAAGGAGCTGTTGCGCAGCTGCTCCGGCGGCATCAGCACCACCACCACCAGCGTGCCGGCCGCCAGCCTCTCGGGTACATGCTCCGCACAGTCCAGCCCGTCCCACTCGCACTCCGCGCTGTTGCAGCCCTGGTCGCAGTGCCCGTCGCTGAAGTGGTCCTTGCAGTACTGGTCGTACAGGGGGCTGTGGGGGGCGGGACACGCTCAGGCCGCCTTCCTCGGGGGGCCTCGCACCCGCCGTCCGGTGCCTCCAGCCCACTGGCCAGCCGCGGGGGACGTCCCTGCACCCCCTGAGCAGAGCCTTAGAACTGCATGCTGGCCTCCGGGCCCAAGCCAGGCCACATCCAAGTTCAGGTCCTCCCTCAGCCCCATGAGCCCCGCAGCCTTACTTGCACTGGCCTTCCGCACGCTGGCAGTCAAAGCCGTCGAAGAGGCAGCCGGCTGAGTTGCACTGGCTGTCACAGTG | AGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGAGAGGTGGAGGTTGCAGGGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGTGACGGAGCGAGACTCCATCTCAAAAACAAAAAAAAAAGAAAAAAAAAAAGAAAAAGAAAATCAACGCTTTCCATGTCTCAAGAAGGTTTCAGAAAAGAGTAATTTACAGGGACAGAGTGGCCCTGCGGTATCACCCCAGGAAGGGGTTGGTGGAAGAACAGGAGGACTCCAGGACCCCCCCACGTCTACTCTGAATGGGAAACACCCCAAGGATGAAAGCTCTCACCCCCAATTCTAAGTTTCCAGAGTATCAACTGTACCCCAGCCTCGGGGCTTAGGGGAGAGAGGCAGGTGGGCCACGGGGCTAGGGAAGCCCTGGCTGCTGGCACCCTTACCAGGCCCGCGGACATTGACGTCCATGCAGTCGGCGTCAACCTCACCCTGGGGCGGTGTGGGGGCCATGGCAGACATGCGCAGGTCAGCGGCATCCAGGTGCTGCTGAGTCCACTGCCGGTGGTCTGTCTGGTCGTCCAGGTCAGGCAGAACCACGGGCTCCTCGAACTACATAGAGGGAGTGAGCAGAGCCTGTCAGGGCAGCCCGGCAGCAGGTGCCCGGGAGCCCAGGAGCCCGGGAGCCTCGCGACTCACCCGGAACTTCTTGGTCTCCAGGTCCTCGTCCCCCCACTCATTCTGGTTGTCGTCCATGAGGGCACCGTCTGAAGCGTTCTTCAGGGGCCTGGGGGGTGAGGGGTCGAGAAGTGAGGCTGAGCGAGCTCCCTAGGAAGCCCCCAGAGACCCCTGGCCCGGGCCTGGCGTGGGAGGTGGGCCCTGGGTCGGGAGGGGCAGACTCCCGGTGAGGATGCTCGGCCAGGTCCCACCTCCCACCGGGGACCCAGAAGCAGGGGCGGCGTCCGCTCACTTGAGGCCCACGGAGTCCTCGCCGAGGGGCTCCCGCCGCTTCTTCTTGCTGGCCTCAGACACTTTGAAGCCCTCAGGGAACCAGAGCTGGCCATGCTGCCGCCGGCGCTTGCGGGACAGCAGCACCCCGCAGCCCACGAAGAACAGAAGCACAAAGGCGGCCGCCGCCACGTACATGAAGTGCAGCTGCGCCGGCGGGGGCGGCTCCACGGTCTCACCTGCGGGCACGGGGGCCAGGGGCAGGTGCCCGGACATCAGGCAGCGGCTACGCAGCAGGCTGGTGGCCGGGGGGCGGCGGACTGGCTCCGCGTCCGGGCGCCTCCTCACCCACTCTCCTCCATCCCGCCCTCCAAAATAAGGTCATTTTCTACGCGATTAATCAGAATTGCAAACTATCGCTAAATTCTCTCCTGCACCAGCCGACTCTATCTGGAGACGGCTTTTACTTTTTTCTCCTTTAAGGAAGGAGGATTAGTCAACTTCAAATCGCTGCACTCGCACTGAGCTGTTAAGACAAAGGATTTAGAGGGATTTTCAAGATACAAACTTCAACACTTCACATGACACCGATCAATTCTTCTCTCTCTCTCTTTTTTTTTCTTTAAAAAAAGCCGTAATGATTTTGAAATAATACCCAACAAAGAAAATTCAGGAGGAAAGGGTGGGGAGAGAAGCAGGCACCCACTTTCCCGTGGCTGGACTCGTTCCCAGGTGGCTCCACCGGCAGCTGTGACCGCCGCAGGTGGGGGCGGAGTGCCATTCAGAAAATTCCAGAAAAGCCCTACCCCAACTCGGACGGCAACGCTCACACCCGTGGGTAGCAACTGGCACAAACAGCCAGCGTGTCTGGGGCACGGGGGGATGGCACCCCCTGCAGGCAGAGCCTGTTCCCGGGATGGGGCCACACTTACTCTGCACGGCCTCGATCTTGTAGGGGATGTTGAGGCTGCCCAGCGAGGCGAGCGCTCCCAGGAATGCGGCCACGTCGGTGGCACTCTGGAAGCACTGCGAGGAGGCCTGCACACACTGCCGGTTGTCAATCTCCAGGTAGACGATGGAGCTGGGCGGACAGAGAGGGGCTGGGACCCGAGGCTTCCTCCTCCCCCGCCCACCGGCCAGGGATGCTGCCGCAGGACACTGAGGCCCATGACGCCACAGTCAGGACATGGTGAGGCAGCCTGGGGTGGTGGGAAGCCAGGTCTGACAGCAGCTACCCTGCAGGGGACTGGTGCCAGCCCCCCGACTCCGGCCAGTGCTGATCACGGCTCATCCCAGATACCCACCAACGCGCTCTCCCTGGCCCGCCCTGACACCCTCTCTGGCTCCTGCTGGTGCCACAGACACGTTTCCTCATCTCAGGACAGAGTATGTGCCAGGAGCCCAGTCCTCCCCCAGGAGCCATCCCCAGGCCCTGCAGGAAGCACAGGCGTGAGGTGGGGGTGGGTGCAGCGGTGGTGGGCTGTGTGGTGAGGCTGGCTGGGGGTGAGCTCTGCTCCCCAGGACTGGGTTCCCGTGAGCAGGATCCCATCCAGCCTGTGAGATGATGCTTCTGACCTCCAGGATTGCTCCAAGCCAGCAGAACTGACAGGCAAACCCACCAGGGTCAGGCACACGAAGGGCACAACCAACCTGGCTCCTGGGTCCAGCTGCCCCAGATCGAGTAGGCATGGGCGGGAGCCTTGTGGGGTGCCCCCTGCACTCAAGCTGCTCCTGCCTGTGTTCTCCCACCGTGGGACCCCCCACCCCCACCAGCTCCTCCTCCAACTGCAAGGCCCAGCAATGCCCCCTCCCAGGACCTCCACCTGCCTCCTCTCCAGCCCAAGCCAGGCAGACGCCATGACCAAGCGGCATTCTTGTCTGGGGTGGGGCTGTTCAGCCCTGTGGGAACCCCTGGAGAGCTGAGTGTTTTGTTTTTTACTTCTTTTAATACTTTTTTAAAAAAAACAGAGACAAGGTCTCCCTATGTTGCCCAGACTGGTCTCGAACTCCTGGGCTCAAGGGCTCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCTCCTCGCCTGGCAGAGGGCTGAGTTTTAATCAGTGTAGTATCCAGTGCCTAAGGCACAGCTCAATCTCAAAATCACCTACTGGGCACAGGAGTGCCGCCTGTCCAGGGGAAGGCAGTGGCCCAGGAAAAGGGTGTGGCTGTGGGGTCAGGGCCCTGAGCTGGAATGCTGCCTCTACTCCTTGCCTGCGCAGGCCCTGAAGTCCCAGGTCCTCTCGGAACCTCCGTCTCTTTTACCATAAAGTGGGGAGAGTACTGCTTGCCATGGCGCCGGCCGTGAGGGGCAGGGAGGCCGTCGGGGAGGGCCCAGGAGAGTTGCGGGGATTGACCGTGGGCGCCGGGTCTCACTCACCCGCGGACGTCCATGGGGTCCAGCTCCCTCCGCCGCCGCCCACCCTCGCTGCCACCAGGGAGCAGCGAGGCCTTCACCTGGCCCAGCAGGGCGTCAGGTGCGGCCCAGCCCTCGGCGGCACGCTTGATGGGGTGCTTGCGCAGCTCCTCCTCGCGGCCGTAGTAGGGGAAGATCATCTGCTGGCCGTGTGCGTCACGCTTGAAGACCACGTTGGTGTGCAGCACGCGGCTGAGCTCCCGCAGGAAGTGGAAGGAGCTGTTGCGCAGCTGCTCCGGCGGCATCAGCACCACCACCACCAGCGTGCCGGCCGCCAGCCTCTCGGGTACATGCTCCGCACAGTCCAGCCCGTCCCACTCGCACTCCGCGCTGTTGCAGCCCTGGTCGCAGTGCCCGTCGCTGAAGTGGTCCTTGCAGTACTGGTCGTACAGGGGGCTGTGGGGGGCGGGACACGCTCAGGCCGCCTTCCTCGGGGGGCCTCGCACCCGCCGTCCGGTGCCTCCAGCCCACTGGCCAGCCGCGGGGGACGTCCCTGCACCCCCTGAGCAGAGCCTTAGAACTGCATGCTGGCCTCCGGGCCCAAGCCAGGCCACATCCAAGTTCAGGTCCTCCCTCAGCCCCATGAGCCCCGCAGCCTTACTTGCACTGGCCTTCCGCACGCTGGCAGTCAAAGCCGTCGAAGAGGCAGCCGGCTGAGTTGCACTGGCTGTCACAGTGNNNN | benign | 155,460 |
Classify the chromosome 9 variant at position 136506932 affecting gene NOTCH1 (notch receptor 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Adams-Oliver_syndrome_5', 'NOTCH1-related_disorder'] | TGGTGTGCAGCACGCGGCTGAGCTCCCGCAGGAAGTGGAAGGAGCTGTTGCGCAGCTGCTCCGGCGGCATCAGCACCACCACCACCAGCGTGCCGGCCGCCAGCCTCTCGGGTACATGCTCCGCACAGTCCAGCCCGTCCCACTCGCACTCCGCGCTGTTGCAGCCCTGGTCGCAGTGCCCGTCGCTGAAGTGGTCCTTGCAGTACTGGTCGTACAGGGGGCTGTGGGGGGCGGGACACGCTCAGGCCGCCTTCCTCGGGGGGCCTCGCACCCGCCGTCCGGTGCCTCCAGCCCACTGGCCAGCCGCGGGGGACGTCCCTGCACCCCCTGAGCAGAGCCTTAGAACTGCATGCTGGCCTCCGGGCCCAAGCCAGGCCACATCCAAGTTCAGGTCCTCCCTCAGCCCCATGAGCCCCGCAGCCTTACTTGCACTGGCCTTCCGCACGCTGGCAGTCAAAGCCGTCGAAGAGGCAGCCGGCTGAGTTGCACTGGCTGTCACAGTGGCCGTCACTGAAGTACTTCCAGCACTGCAGAGACTGCGTGCAGTTCTTCCAGGGGTCATTGAAGTTGAGGGAGCAGTCACCGCCGTCCCAGCCGCACGCGTGGTTGTTGCACTGCAGGCTGCAGACCTTGTTGCCCGCGTCCTCCTGGCACTCGGGCAGCTCGCACGCCTCCTCGATCAGCGGCGGGGGGATGTCGCGCCCGGCCCCACCCCCGAAGCTGTAGTCCAGGATGTGGCACAAGAGCCCGTTGAATTTGGCGGGGCACAGGCAACGGTAGAAGGGGCTCTCGGATGTGGGCTCACAGGTCCCCTGGTTGTAGCAGGGGTTGCCGCCCAGGCAGGGGCTGCTGGCCGGGAACTGGCATTCGGGGCCCGTGAAGGGGCCCAGGCACAGGCAGGTGGGGCTGCGCGGGCCGGAGATGCATGTGCCGCCGTTGAGGCAGCGCAGGCTGCCGCAGGTACGAGCGTCATTCTCACACGTGGCGCCCTCGAAGCCCTGCCCGAGAGGGAAGACAGGACGGTGTCGGGGTGGGCCACCCCCCGCCCCCCCGCCACCTCACACCCAGCCCTCGGCCAGCAGTGCCACCGCTCTCCTCTAACCTGGGAGGCGGCCTGCAACCTTGCCCCCAGCAGCAAAACCCTTTACACACATTCTACCAACAGAGAAAGATCGGGGGTGCCAGGGGGTCGGGAGATGGAGGAAGGGGTAAACTGGTGGAGTGCTGAGGACTTTAGGGCAGGGACTCTCTGCCGTGATCCTGCGAGGGTGGGCAGGCATGTCATACCTCAGCCCAAACCCACAACCACAAAGCCAAGGGCAAGCCCCAGGTACAGGAAGGGCTGCTGTTGGTAACAATGTATCACTGAAATCCAGAGTGAAATTGATGCAAGCTGCTAACCAGGGGAACTGCGTGCAGGGGACAGCCACCCCAGGGAGTCTACTTCCTGCTCCATTTTTCTATAAATCTAAAATGTCTCTAAAATCATTTATTGAAACTAAAAAAAAAAAAAAGACATCAGGGTGAGGAGGAGGATGAAGGCCGGGAGGATCACTGCCCGGTCTGCGCCCCGAGGCCCCCACGTGGACCTCTCCAGGTGTCTCCCCTGGCGGGCCCCTGCCTCCCTGCACCCCTGCACCTACCGCAGGGCACTTGCAGATGAACCCGCGGGCGGTGTTGGAGGCCACGGCGCAGGTGCCCCCATTCTTGCAGGGCTTGCCTTTGCAGCCATTGATGACGGACTCGCAGCGGCGCCCTAGGGGTAAGAGCAGGGCAGTGAGAGGCTCACCCTGCTGCCCCACACGCCCCACCCGCCTGGGCGCGGCACCCACCGGTGTGACCAGCACGGCACTCGCAGTGGAAGTCATTGACGCGCTGCACGCAGTTCTGGGTGCCACGGGCGTCGCAGGGATTGGACAGGCACTCGTTGACATCCCCCTCACAGCGCTCACCCACGAAGCCCGGCGGGCAGGTGCAGCTGTAGCCGCCCACCTGGTCCACGCAGGTGCCGTTGTTAAAGCACTTGGGGCTCCGGGACACGGGGTCAACGGGGGGATTGCAGTCGTCCACGTTGATCTCACAGTGCACACCTGCGGGGCCAGGTTTCGTCAGTGGCCCAAGCCCGCCACACCCCGGCCCTGCCGTGCCGCGTGTCCGTCCCGGAAGACGAGCGCTCAGGTCTGGGGCTGCACGGACACTCGGGAGAGGCAGGTGTCAAGGGTGCCGTGGAGACGCCCTTCCCACTGGGACCCCCGCTCTGGGCCCTTTCCCTGGGCAGCTGTGAGTCGGCCTTGGCCTCACACAGGAAAATGGGAGTTTCTGGCTGGTTCCTGGATGCCTCTGGCCGGTCCCGGGGTGCCTGCCCTGCCCCTGCCCTGGCCATGGATGGCCAACACCAGCCCTCCGTGCAGCGGCCCTTACCCTGAGTGCCCCGTGGGCAGGAGCACTTGTAGGTGTTGGGGAGGTCGAGGCAGGTGCCCCCGTTCTGGCAGGGGTGGGAGAGGCACTCGTCGATCTCCTCAGAGCAGTTCACCCCGTGGTAGCCGGCCACGCACTGTGCAGGCGACAGAACGAGGGGCCCTTCGGCTCAGCCGGCGCCAGGATGCAGTGCTCCCACACCCCACTGTGAGGGCTGACAGGGCCACATGAGCTGCCCTCAGGTCCAGCGAAGCCACGGGCCCCTCGCTCCTGTCAGACCTGGAGAGAGACCCAGCCCAACAGACCCTGGCGGGGCCTCGGTGACCGGAGTCACTGCCTGTTGGGGGTGGGTGGACCCCGTCCCATAGGATAGAGGTGAGGGCCTCAGGGTAGGTGTTGGCCAAGCCCAGACACAATCTAGGGGAAGGGAAAACCCCATCCCACTTCTCAGTATAGGTACCCTCCTTCAGGCTTTCCACAGGCCACCTCTTCCAGGCAGTCTACCCTGATTACCCCAGCCCTCCCCTAATGAGACTGAACAGTGCATGGGCCTATCAGGTTCAGTTTTCTCCACTGGGCCAGCTCCCAGCCAGGGCCTGGTGTGTGGCAACACTCGTGCCGGCCACAACCCTTACCCTAGGAGGGACCCCCACCTTGCAGGAGTAGCCGCCCAGGTAGTCCGTGCAGGTGGCCCCGTTCTGGCAGGGGCTGGGTGAGCACTCGTCCACCAGGTCCTCACAGTAGCTGCCTGTGTAGCCCGCCTGGCAGCGGCAGTGGTGCGTGTTGCCCGCGTCCACACAGAGCCCTCCATGCTGGCACAGGCGGGCAACGTCAACACCTGCGGGGGATGGGGTGGTAGACAGGTGAGGCCCAGGCCCACAGAGGACCTTGATGGGCTGGGACCCGAGCTGGGTGGGCACAGCAGGTTACCTTGTCGCTGCGCAGCCACCTCACAGGACACGCTGGGCACGTCGCAGTAAAGGCCGGTCCAGCCGCTGGGGCACTCGCAGCGGTACTGGGTGTGGGTCTGCCAGCATTTGCCGCCGTTCTTGCAGGGCGAGGAGTCACACCAGTGCACAAGGTTCTGGGGACAGATTGGGGTCAGCTGGGTGCCCGCGCCCCGGCCATTTCCCCGGTAGCTCAGAACGCACATCTGCCAAGGGGCCTACTCCAACCCAGGCTGCAACCCATTCTACAGAAGTGGAAACTGCCGCCCCTGGACTCCCCACCACCCCCACACCAGGAACAGCCTGGGCTGGGTCTCCCTCAGGGCCCTCAGCAGGTCCAGACCACCCTCGGCCTTTGCTAGAAGGAACACTTTTCCTCAATTCCCCAATTCCTGAGCTCCTGCCCCGGCTCCAGAAACCTGGGATTGAAACGAAGGTGCCTGCTGCTTCCGCATCAGGTTCCTTCACCGGCTGCTCAGATCCCCAGAAACCCTCTGCCCGGGGGTGTGGGGGTGACCCCGAGCCGACACAGTGGGACCTGGGGTGACCGTTCCCACCTCCCGCAGGTAGGCACCCACCCAGGGCCCCTCCTTCGGGCACCTCTGTGGCCGGCGCACTCACCTGGCAGTTGGGGCCAGTGTAGCCCTGGGGGCAGGTGCACCTGTAGGAGCCGCAGCCGTCCTGACAGGTGCCGCCATGCAGGCAGGGCTGTGAGTCGCACTCATTGACAT | TGGTGTGCAGCACGCGGCTGAGCTCCCGCAGGAAGTGGAAGGAGCTGTTGCGCAGCTGCTCCGGCGGCATCAGCACCACCACCACCAGCGTGCCGGCCGCCAGCCTCTCGGGTACATGCTCCGCACAGTCCAGCCCGTCCCACTCGCACTCCGCGCTGTTGCAGCCCTGGTCGCAGTGCCCGTCGCTGAAGTGGTCCTTGCAGTACTGGTCGTACAGGGGGCTGTGGGGGGCGGGACACGCTCAGGCCGCCTTCCTCGGGGGGCCTCGCACCCGCCGTCCGGTGCCTCCAGCCCACTGGCCAGCCGCGGGGGACGTCCCTGCACCCCCTGAGCAGAGCCTTAGAACTGCATGCTGGCCTCCGGGCCCAAGCCAGGCCACATCCAAGTTCAGGTCCTCCCTCAGCCCCATGAGCCCCGCAGCCTTACTTGCACTGGCCTTCCGCACGCTGGCAGTCAAAGCCGTCGAAGAGGCAGCCGGCTGAGTTGCACTGGCTGTCACAGTGGCCGTCACTGAAGTACTTCCAGCACTGCAGAGACTGCGTGCAGTTCTTCCAGGGGTCATTGAAGTTGAGGGAGCAGTCACCGCCGTCCCAGCCGCACGCGTGGTTGTTGCACTGCAGGCTGCAGACCTTGTTGCCCGCGTCCTCCTGGCACTCGGGCAGCTCGCACGCCTCCTCGATCAGCGGCGGGGGGATGTCGCGCCCGGCCCCACCCCCGAAGCTGTAGTCCAGGATGTGGCACAAGAGCCCGTTGAATTTGGCGGGGCACAGGCAACGGTAGAAGGGGCTCTCGGATGTGGGCTCACAGGTCCCCTGGTTGTAGCAGGGGTTGCCGCCCAGGCAGGGGCTGCTGGCCGGGAACTGGCATTCGGGGCCCGTGAAGGGGCCCAGGCACAGGCAGGTGGGGCTGCGCGGGCCGGAGATGCATGTGCCGCCGTTGAGGCAGCGCAGGCTGCCGCAGGTACGAGCGTCATTCTCACACGTGGCGCCCTCGAAGCCCTGCCCGAGAGGGAAGACAGGACGGTGTCGGGGTGGGCCACCCCCCGCCCCCCCGCCACCTCACACCCAGCCCTCGGCCAGCAGTGCCACCGCTCTCCTCTAACCTGGGAGGCGGCCTGCAACCTTGCCCCCAGCAGCAAAACCCTTTACACACATTCTACCAACAGAGAAAGATCGGGGGTGCCAGGGGGTCGGGAGATGGAGGAAGGGGTAAACTGGTGGAGTGCTGAGGACTTTAGGGCAGGGACTCTCTGCCGTGATCCTGCGAGGGTGGGCAGGCATGTCATACCTCAGCCCAAACCCACAACCACAAAGCCAAGGGCAAGCCCCAGGTACAGGAAGGGCTGCTGTTGGTAACAATGTATCACTGAAATCCAGAGTGAAATTGATGCAAGCTGCTAACCAGGGGAACTGCGTGCAGGGGACAGCCACCCCAGGGAGTCTACTTCCTGCTCCATTTTTCTATAAATCTAAAATGTCTCTAAAATCATTTATTGAAACTAAAAAAAAAAAAAAGACATCAGGGTGAGGAGGAGGATGAAGGCCGGGAGGATCACTGCCCGGTCTGCGCCCCGAGGCCCCCACGTGGACCTCTCCAGGTGTCTCCCCTGGCGGGCCCCTGCCTCCCTGCACCCCTGCACCTACCGCAGGGCACTTGCAGATGAACCCGCGGGCGGTGTTGGAGGCCACGGCGCAGGTGCCCCCATTCTTGCAGGGCTTGCCTTTGCAGCCATTGATGACGGACTCGCAGCGGCGCCCTAGGGGTAAGAGCAGGGCAGTGAGAGGCTCACCCTGCTGCCCCACACGCCCCACCCGCCTGGGCGCGGCACCCACCGGTGTGACCAGCACGGCACTCGCAGTGGAAGTCATTGACGCGCTGCACGCAGTTCTGGGTGCCACGGGCGTCGCAGGGATTGGACAGGCACTCGTTGACATCCCCCTCACAGCGCTCACCCACGAAGCCCGGCGGGCAGGTGCAGCTGTAGCCGCCCACCTGGTCCACGCAGGTGCCGTTGTTAAAGCACTTGGGGCTCCGGGACACGGGGTCAACGGGGGATTGCAGTCGTCCACGTTGATCTCACAGTGCACACCTGCGGGGCCAGGTTTCGTCAGTGGCCCAAGCCCGCCACACCCCGGCCCTGCCGTGCCGCGTGTCCGTCCCGGAAGACGAGCGCTCAGGTCTGGGGCTGCACGGACACTCGGGAGAGGCAGGTGTCAAGGGTGCCGTGGAGACGCCCTTCCCACTGGGACCCCCGCTCTGGGCCCTTTCCCTGGGCAGCTGTGAGTCGGCCTTGGCCTCACACAGGAAAATGGGAGTTTCTGGCTGGTTCCTGGATGCCTCTGGCCGGTCCCGGGGTGCCTGCCCTGCCCCTGCCCTGGCCATGGATGGCCAACACCAGCCCTCCGTGCAGCGGCCCTTACCCTGAGTGCCCCGTGGGCAGGAGCACTTGTAGGTGTTGGGGAGGTCGAGGCAGGTGCCCCCGTTCTGGCAGGGGTGGGAGAGGCACTCGTCGATCTCCTCAGAGCAGTTCACCCCGTGGTAGCCGGCCACGCACTGTGCAGGCGACAGAACGAGGGGCCCTTCGGCTCAGCCGGCGCCAGGATGCAGTGCTCCCACACCCCACTGTGAGGGCTGACAGGGCCACATGAGCTGCCCTCAGGTCCAGCGAAGCCACGGGCCCCTCGCTCCTGTCAGACCTGGAGAGAGACCCAGCCCAACAGACCCTGGCGGGGCCTCGGTGACCGGAGTCACTGCCTGTTGGGGGTGGGTGGACCCCGTCCCATAGGATAGAGGTGAGGGCCTCAGGGTAGGTGTTGGCCAAGCCCAGACACAATCTAGGGGAAGGGAAAACCCCATCCCACTTCTCAGTATAGGTACCCTCCTTCAGGCTTTCCACAGGCCACCTCTTCCAGGCAGTCTACCCTGATTACCCCAGCCCTCCCCTAATGAGACTGAACAGTGCATGGGCCTATCAGGTTCAGTTTTCTCCACTGGGCCAGCTCCCAGCCAGGGCCTGGTGTGTGGCAACACTCGTGCCGGCCACAACCCTTACCCTAGGAGGGACCCCCACCTTGCAGGAGTAGCCGCCCAGGTAGTCCGTGCAGGTGGCCCCGTTCTGGCAGGGGCTGGGTGAGCACTCGTCCACCAGGTCCTCACAGTAGCTGCCTGTGTAGCCCGCCTGGCAGCGGCAGTGGTGCGTGTTGCCCGCGTCCACACAGAGCCCTCCATGCTGGCACAGGCGGGCAACGTCAACACCTGCGGGGGATGGGGTGGTAGACAGGTGAGGCCCAGGCCCACAGAGGACCTTGATGGGCTGGGACCCGAGCTGGGTGGGCACAGCAGGTTACCTTGTCGCTGCGCAGCCACCTCACAGGACACGCTGGGCACGTCGCAGTAAAGGCCGGTCCAGCCGCTGGGGCACTCGCAGCGGTACTGGGTGTGGGTCTGCCAGCATTTGCCGCCGTTCTTGCAGGGCGAGGAGTCACACCAGTGCACAAGGTTCTGGGGACAGATTGGGGTCAGCTGGGTGCCCGCGCCCCGGCCATTTCCCCGGTAGCTCAGAACGCACATCTGCCAAGGGGCCTACTCCAACCCAGGCTGCAACCCATTCTACAGAAGTGGAAACTGCCGCCCCTGGACTCCCCACCACCCCCACACCAGGAACAGCCTGGGCTGGGTCTCCCTCAGGGCCCTCAGCAGGTCCAGACCACCCTCGGCCTTTGCTAGAAGGAACACTTTTCCTCAATTCCCCAATTCCTGAGCTCCTGCCCCGGCTCCAGAAACCTGGGATTGAAACGAAGGTGCCTGCTGCTTCCGCATCAGGTTCCTTCACCGGCTGCTCAGATCCCCAGAAACCCTCTGCCCGGGGGTGTGGGGGTGACCCCGAGCCGACACAGTGGGACCTGGGGTGACCGTTCCCACCTCCCGCAGGTAGGCACCCACCCAGGGCCCCTCCTTCGGGCACCTCTGTGGCCGGCGCACTCACCTGGCAGTTGGGGCCAGTGTAGCCCTGGGGGCAGGTGCACCTGTAGGAGCCGCAGCCGTCCTGACAGGTGCCGCCATGCAGGCAGGGCTGTGAGTCGCACTCATTGACATN | pathogenic | 155,601 |
Does the chromosome 9 mutation at position 136513039 within gene NOTCH1 (notch receptor 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Adams-Oliver_syndrome_5'] | TCCCAGGTCAATTCCTGATTCCAGAACTTCTCCGACCAGGGCCTCCTCAGCACCCACCAGCTCCTCTTCAAAGACTCATCTAGCCTGCCTGGGAGCTGCCTGTGTCCCGCAGACATCCTGACCTCCCATCCCAGCCCTCACCGGGCCCTGGCCAGCCTCACCTTGCCAGCCCGTGGGGCAGACACAGGAGAAGCTCTCATAGTCCTCGGATTGCCTGCACTCCCCGCCGTTTCTGCAGGGGCTGGGGGCACACGGGGCCAGCACCACCTCACACGTGGCACCTGCGGGAAGGAGACACACGTGACCCCGGGAGCCTCACCCAGAGGGATCTCCCAAATCGGCCACCGCCTGCTGGTCTTTCCGCCATCAGAGTGCCGTCTGCTGGTCCCGCCGGGAGGCAAATGTGCACCGAGACCCCTGAGCGCTCCCGGCTGTGCCAGGACCCTGACCCAGGGAGGAGTGGAGCACAGATGGGGGGACGCTGAAGACAAGCTGCACAAATGTCACGCTCAGAAGCCACCCCTCATTCCCGGTTGGCAGCGGGGCACAGCCTAGGCCTCACCCCACCAGGCGTGCCCAGGAACAAGGACTGCACCAGGAGAGGCGGCCTCAGTCGGGTGGGCTCCACGACACTGCAGGGACCTGGGCCCACCCCGGACGCAAGCCCCCTCATCTCTGGGTGACGAGGAAAGGCCCTGGCCTGAGACCGAGGCCTGAAACTAATCCTGGGGCTCCGTGTCACAGGCAGCAAACGCCCATCACGGGAGGCCAACAAACAAGGGCTGCGATGGAGGGGACAGGCCCAGGCCCCCAGCACATCCTGCGTGTCGGGGCACGGGGCACGGCCTGGAGACCTCCAGGGCCACGCAGGGTGTCTGGCAAAGGCTATGTGGGAACCACGTGCACAGCCGAGGGCCTTTTTCTGCACAAGCCCATGGCCGAGCTTCCTGTTTATAGCCGTGGGGACTGCGTTATCTTCCCTGTCCCCCATTATCTCCCTGGCCTGCTGGGGCGACTTTCCAGGGCCTCTCTTCCTATTGGTTTCCACGGTGACCCGGGCAGGCAGGAACTGCGCCAGAGTTTCCGACAATTGTGCGAAAGGAAGCAGGAAGCGGGCAGATAGGAAGCGGGTCAGCACCGCCGCTCCTCCTGCCGGCCCGATCGACGTGTCTGAAAGGGACAGGGGCGCCCAGCCGTGGAGGGAGGGTCCTCACTGACTGACACAGGAGAGAAAACCCAGGTCCTTAACTTCGGTCAAAGAAAACAGCGTTCTGGCCACAGGCTGCTGGATGTCATGGGAACCGCAGGCGTGGGACCTCCAGCCCGGCTGCCTGGCCCAGGCAGGCCCTCCCTGACCAGGCCCCGTGGCAGCACCCTCTGCCCGCTCCTGGGGAGCGCCAGGACCCCGGTGCTTGTGGACTCTTCTTTGTCTTTTCTAGAGGAGATCATTTCCTGTGATCCCCTTGGCTGGGTTCATAGCAGGGGCTGGACAGTTGGGGGAACATCCCCCTCCCCGCTCAGCCCAAACAGAGGGCTCCTTGTTCCGCTCACACAAAGAGAGCCCGCCATCAAAGGAATCCCTCAGGTCCGGCTGGCGGGGGTGGGGAAGCCCGGCCCCCAGAGACCCCAGCAGGGTGGGCGCCGGGAGCACGGAGCCCAGTGACCCAGGCCCGGCCCTGCTAAGGATTCACCTGCATCTTACCTGTGTCTTGCGGCAGGCTTGCCAGGTAAAACACATGCTTGCATGAAAATTTTCTCCCAGGCATCCTGTATCTTTGCTAATCTGCCAACCCCACCCCCGGGAGAAGGCCCACATACTGCAGGGGCCTAAGGCACTCAGTGAGGCGCAGAACCTTCTGGAAGGCCCCGCCCCAAGAAAGCCACCACTTTACCCTCCAGTCACGGCTTCCCAGGCCGCCCCCACCCCTGGCCCCACCCTCTCCAGCACAGGCTCCGCCCTCTCCAGCACAGGTCCCGCCCCTCCCACATAGGCCCCGCCCCCTCCAGCACAGGCCCCACCCACCCCTCACCTGTGTAGGGCAGCAGGCAGTTGCACTTGTACCCGGCAACGTCGTCAATACACGTGCCCTGGTTCAGACATGGGTTGGACGCACACTCGTTGATGTTGGTCTGGCAGTTGGGACCTGGAGGGAAGGGGACAGCACTCGGCATGTCCAGCACTCCCAGGCACCTTGGCAGGGCCCCACAACAGCAGCCCTGGGCCTGCTCCCCACCCCAGGCCCCTCCTCATCTCCAAGAGCCAGAGGCCTGGAGCTAAGGCTTTGCCACGGGAGGGAGACACCATGCATGGTGCTGGCTGGACCTGGGTCCCGATCCTGTGTCTCCAGCTCCCCAGACTCGAGGGCGGCCCTCTGCACTGAGAAACGCGCAGCCCACTCACCGCTGAAGCCCTCCCGGCAGGTGCACACGTAGCCACTGGTCATGTCTTTGCAGGTGCCGCCGTTGACACAAGGGTTGGATTCACACTCATTGTTGTTGATGTCACAGTTGGTCCCACTCCACCCAGGGTCACAGTCGCACTTGTACCTGCAAGGGGGACCACACTGCAGGTCGAGGGAGGCCCGAGCAGCACGGCCGGGGCCTGGGCACTCCCGGGTCTGCAATGCCCTATGGGCTGGCGGAGGTGCCCATCCACTCAGACTCGCAGAGTCCTTTAGTGGGGGCAGGCTGGGCGCTGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCGGGGGTGGCTGAGTCACTTGAGGCCAGGAGTTCAAGATCAGCCTGGCCAACATGGCGAAACTCCCCCACCCCATATATACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCACATGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGGGAATCACTTGAACCTGAGGGGTGGAGGTTGCAGTGAGCTGAGATCATGCCATTGCACTCCAGCCTGGACAACAGAGCAAGGCTCTGTCTCAAAATAAAGAAAAAAGTGGGGGCCGCAGCGCTTCCCATACCCAAGACTGCGGCAGGGGTTTGGTTCATTAGCGAGGGGACCATGCCAAGTGCAGGGCAGTAGGGTGCTGCGAAAAGCCCCCCACCACTTGCCCGCTGTGTGGCCCCGAACAAAGCACGTGCCTTCTCTGCGCCAAATGAGGGCAATGGGGTCCCTGCTGATTTAAATGGTCCCATCCAGGCAGAGTGCTGCCAGGCACATCATGGGCATCAGAAACACTTGCGGCTGTTACCATGGAAACGTGTTCCAGGGTCACTGTGGGCCTGTGTCCTGAGCACACCATGCAGCCCACAAGGACACGCAGCACACAGCTGCTGGGTGTGGACTGTAGTCTGACTGAGGACCCAGAGGCATGTGCGTCCCCGAGGGGAGCTCCCTGCCACCCAGCCCCGTCCGAGGCCCGTTTCTGGCCCATCTCAAGCTCTGTGCAGGTGCCACCCTCCTGGCAGCAGAGCTCCCAGGGTTTAGGACTGATGTGTCCCCATGATCGGCCCCGCCGCATACCCGTTGAGGCTGTCCCGGCAGGCCCCGTGGACGCAGGGGTTGCTGTTGCACTCATTGACCTCAGACAGGCAGGTGGGGTCGTGGTAGCCCTCGGGGCAGCGGCAGGTGAAGCCATTGATGCCGTCCTCGCAGGTGCCCCCGTTGTGGCAGGGGTTGCCCGCACACTCATCGATGTTGATGTTACACATGCTCCCTAAGGGCAGGGCGGGTCAGACTCCGAGGCCCAGCGCCCAGGGGGTCCCACCCACGTCAACCTCGATTTCCCTGTCTGTTGAGCCGGGGCGATCACCCTTCTGGCCACATCCTTCCAGGTGTCAGAAACCATCTTGGATCACAATGTGCCATGTGCCAGCCTCCCCGGGCACCAGTGCCCACTCAAGTCATCCTCCCAGGGGCCCCAGGGGCAGGGGCTACTGCAGCCCTGACTGATGAGAATCTGAGGCCCAGAGAGGCAGAGGGACCTGCTCAAAGGTGCTGGTGAGCCACAGAGGCAGAAGGTACTTAAGCCTGGCCTCAGGGCTGGCTGCTCCCTCTTGGCCTGCTGGGCCACTCTGCCAACACGGCCTGGGACAGCTCT | TCCCAGGTCAATTCCTGATTCCAGAACTTCTCCGACCAGGGCCTCCTCAGCACCCACCAGCTCCTCTTCAAAGACTCATCTAGCCTGCCTGGGAGCTGCCTGTGTCCCGCAGACATCCTGACCTCCCATCCCAGCCCTCACCGGGCCCTGGCCAGCCTCACCTTGCCAGCCCGTGGGGCAGACACAGGAGAAGCTCTCATAGTCCTCGGATTGCCTGCACTCCCCGCCGTTTCTGCAGGGGCTGGGGGCACACGGGGCCAGCACCACCTCACACGTGGCACCTGCGGGAAGGAGACACACGTGACCCCGGGAGCCTCACCCAGAGGGATCTCCCAAATCGGCCACCGCCTGCTGGTCTTTCCGCCATCAGAGTGCCGTCTGCTGGTCCCGCCGGGAGGCAAATGTGCACCGAGACCCCTGAGCGCTCCCGGCTGTGCCAGGACCCTGACCCAGGGAGGAGTGGAGCACAGATGGGGGGACGCTGAAGACAAGCTGCACAAATGTCACGCTCAGAAGCCACCCCTCATTCCCGGTTGGCAGCGGGGCACAGCCTAGGCCTCACCCCACCAGGCGTGCCCAGGAACAAGGACTGCACCAGGAGAGGCGGCCTCAGTCGGGTGGGCTCCACGACACTGCAGGGACCTGGGCCCACCCCGGACGCAAGCCCCCTCATCTCTGGGTGACGAGGAAAGGCCCTGGCCTGAGACCGAGGCCTGAAACTAATCCTGGGGCTCCGTGTCACAGGCAGCAAACGCCCATCACGGGAGGCCAACAAACAAGGGCTGCGATGGAGGGGACAGGCCCAGGCCCCCAGCACATCCTGCGTGTCGGGGCACGGGGCACGGCCTGGAGACCTCCAGGGCCACGCAGGGTGTCTGGCAAAGGCTATGTGGGAACCACGTGCACAGCCGAGGGCCTTTTTCTGCACAAGCCCATGGCCGAGCTTCCTGTTTATAGCCGTGGGGACTGCGTTATCTTCCCTGTCCCCCATTATCTCCCTGGCCTGCTGGGGCGACTTTCCAGGGCCTCTCTTCCTATTGGTTTCCACGGTGACCCGGGCAGGCAGGAACTGCGCCAGAGTTTCCGACAATTGTGCGAAAGGAAGCAGGAAGCGGGCAGATAGGAAGCGGGTCAGCACCGCCGCTCCTCCTGCCGGCCCGATCGACGTGTCTGAAAGGGACAGGGGCGCCCAGCCGTGGAGGGAGGGTCCTCACTGACTGACACAGGAGAGAAAACCCAGGTCCTTAACTTCGGTCAAAGAAAACAGCGTTCTGGCCACAGGCTGCTGGATGTCATGGGAACCGCAGGCGTGGGACCTCCAGCCCGGCTGCCTGGCCCAGGCAGGCCCTCCCTGACCAGGCCCCGTGGCAGCACCCTCTGCCCGCTCCTGGGGAGCGCCAGGACCCCGGTGCTTGTGGACTCTTCTTTGTCTTTTCTAGAGGAGATCATTTCCTGTGATCCCCTTGGCTGGGTTCATAGCAGGGGCTGGACAGTTGGGGGAACATCCCCCTCCCCGCTCAGCCCAAACAGAGGGCTCCTTGTTCCGCTCACACAAAGAGAGCCCGCCATCAAAGGAATCCCTCAGGTCCGGCTGGCGGGGGTGGGGAAGCCCGGCCCCCAGAGACCCCAGCAGGGTGGGCGCCGGGAGCACGGAGCCCAGTGACCCAGGCCCGGCCCTGCTAAGGATTCACCTGCATCTTACCTGTGTCTTGCGGCAGGCTTGCCAGGTAAAACACATGCTTGCATGAAAATTTTCTCCCAGGCATCCTGTATCTTTGCTAATCTGCCAACCCCACCCCCGGGAGAAGGCCCACATACTGCAGGGGCCTAAGGCACTCAGTGAGGCGCAGAACCTTCTGGAAGGCCCCGCCCCAAGAAAGCCACCACTTTACCCTCCAGTCACGGCTTCCCAGGCCGCCCCCACCCCTGGCCCCACCCTCTCCAGCACAGGCTCCGCCCTCTCCAGCACAGGTCCCGCCCCTCCCACATAGGCCCCGCCCCCTCCAGCACAGGCCCCACCCACCCCTCACCTGTGTAGGGCAGCAGGCAGGTTGCACTTGTACCCGGCAACGTCGTCAATACACGTGCCCTGGTTCAGACATGGGTTGGACGCACACTCGTTGATGTTGGTCTGGCAGTTGGGACCTGGAGGGAAGGGGACAGCACTCGGCATGTCCAGCACTCCCAGGCACCTTGGCAGGGCCCCACAACAGCAGCCCTGGGCCTGCTCCCCACCCCAGGCCCCTCCTCATCTCCAAGAGCCAGAGGCCTGGAGCTAAGGCTTTGCCACGGGAGGGAGACACCATGCATGGTGCTGGCTGGACCTGGGTCCCGATCCTGTGTCTCCAGCTCCCCAGACTCGAGGGCGGCCCTCTGCACTGAGAAACGCGCAGCCCACTCACCGCTGAAGCCCTCCCGGCAGGTGCACACGTAGCCACTGGTCATGTCTTTGCAGGTGCCGCCGTTGACACAAGGGTTGGATTCACACTCATTGTTGTTGATGTCACAGTTGGTCCCACTCCACCCAGGGTCACAGTCGCACTTGTACCTGCAAGGGGGACCACACTGCAGGTCGAGGGAGGCCCGAGCAGCACGGCCGGGGCCTGGGCACTCCCGGGTCTGCAATGCCCTATGGGCTGGCGGAGGTGCCCATCCACTCAGACTCGCAGAGTCCTTTAGTGGGGGCAGGCTGGGCGCTGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCGGGGGTGGCTGAGTCACTTGAGGCCAGGAGTTCAAGATCAGCCTGGCCAACATGGCGAAACTCCCCCACCCCATATATACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCACATGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGGGAATCACTTGAACCTGAGGGGTGGAGGTTGCAGTGAGCTGAGATCATGCCATTGCACTCCAGCCTGGACAACAGAGCAAGGCTCTGTCTCAAAATAAAGAAAAAAGTGGGGGCCGCAGCGCTTCCCATACCCAAGACTGCGGCAGGGGTTTGGTTCATTAGCGAGGGGACCATGCCAAGTGCAGGGCAGTAGGGTGCTGCGAAAAGCCCCCCACCACTTGCCCGCTGTGTGGCCCCGAACAAAGCACGTGCCTTCTCTGCGCCAAATGAGGGCAATGGGGTCCCTGCTGATTTAAATGGTCCCATCCAGGCAGAGTGCTGCCAGGCACATCATGGGCATCAGAAACACTTGCGGCTGTTACCATGGAAACGTGTTCCAGGGTCACTGTGGGCCTGTGTCCTGAGCACACCATGCAGCCCACAAGGACACGCAGCACACAGCTGCTGGGTGTGGACTGTAGTCTGACTGAGGACCCAGAGGCATGTGCGTCCCCGAGGGGAGCTCCCTGCCACCCAGCCCCGTCCGAGGCCCGTTTCTGGCCCATCTCAAGCTCTGTGCAGGTGCCACCCTCCTGGCAGCAGAGCTCCCAGGGTTTAGGACTGATGTGTCCCCATGATCGGCCCCGCCGCATACCCGTTGAGGCTGTCCCGGCAGGCCCCGTGGACGCAGGGGTTGCTGTTGCACTCATTGACCTCAGACAGGCAGGTGGGGTCGTGGTAGCCCTCGGGGCAGCGGCAGGTGAAGCCATTGATGCCGTCCTCGCAGGTGCCCCCGTTGTGGCAGGGGTTGCCCGCACACTCATCGATGTTGATGTTACACATGCTCCCTAAGGGCAGGGCGGGTCAGACTCCGAGGCCCAGCGCCCAGGGGGTCCCACCCACGTCAACCTCGATTTCCCTGTCTGTTGAGCCGGGGCGATCACCCTTCTGGCCACATCCTTCCAGGTGTCAGAAACCATCTTGGATCACAATGTGCCATGTGCCAGCCTCCCCGGGCACCAGTGCCCACTCAAGTCATCCTCCCAGGGGCCCCAGGGGCAGGGGCTACTGCAGCCCTGACTGATGAGAATCTGAGGCCCAGAGAGGCAGAGGGACCTGCTCAAAGGTGCTGGTGAGCCACAGAGGCAGAAGGTACTTAAGCCTGGCCTCAGGGCTGGCTGCTCCCTCTTGGCCTGCTGGGCCACTCTGCCAACACGGCCTGGGACAGCTC | pathogenic | 155,750 |
Determine whether the variant at chromosome 9, position 136518120, in gene NOTCH1 (notch receptor 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | CTGGCACAGATGCCCAGTGAAGCCTGGGGCCGGGGAGGGGAGGGGAGGGAGTCATGTGCAACAGCACTATGGCCCTTCAGGGACCCCTGGCCAGACCCCAGCAGTGAGCGCCTGGCTGGGCTCCCCAGGGCACACTCAGCCTGAGCTCAGCCAGCTCCAGCTCTCCCTGCCTCCCGCTGCCCGCTCCCCGGATCAAAGCCCCTCCCCCAGCACCACACGCCCTCGCTCCCACAGAAGGGGCCTTTTTCCCAAACCGACTGGGTTGCTATGGCTACAGTGGAGCCGGGCTGAGAATGGGGCTCCCCTCGCTCCAGTGTCTGGGACGGGTAATCTATGTCTTGGGAGCCTAGGCTTGGGCTGGCAACGCCTCCCTGGGCTCTGCGCCCCGGCCCCCAGCTCTGGGACAGATGGAAACACCTTTCACCCAGGCCCCTGAGAGTTCCTCCAAGTCCGCCCCGGGCAGCCATCATCTCCATTGCAGGCCAACCTGCCCCACGTGGTTCTCTGCATACCCTTGTCGCTGGCGTGCCGTTGGGCAGGGGACATGGCAGGACAGGGCAGGCTGGCCTCCCTCCCAGCATCGAGCCCTCAGAAAGCCAGGCTGGAGCCTCCTCCCTGTCTGGGCACTGCAGCTCCTGGTATACCCTTCTCTCCAGGCAGAAGGGGCTGCACCCAGATCAAGGAGGATCTCCTGGCCCTGGGCTCCACCGCGACCCCTGGGCAAGCTCCCACTCCCCACTGGGCCCTGCCCTTCCTTCGGGGAAGTCTGAAAACACTCCCATCCACTCATGAGGCAAAACCCTCGCTCTCCTGGGAATCTGAACACAACCAATGGCCAGGCCCCCCTCAGAAGGCCGGGGTGCAGACGGCCCAGGGGCAGGGGACACAACCTACGGCCAGGCACCCCTCAGGAGGCCGGGGTGCAGACGGCCCAGGGGCAGGGGACACAATCCACGGCCAGGCCCCCCTCAGGAGGCCGGGGTGCAGACGGCCCAGGAGCAGGGGACACAACCCACGGCCCTCACCCCTCAGGAGGCCGGGGTGCGGACGGCCCGAGGGCAGGGGGTGGGGGCGGCCCTCACCCCTCAGGAGGCCGGGGTGCAGATGGCCCGGGGGCAGGGGACACAACCCACGCCCAGGCACCCCTCAGGAGGCCAGGGTGCAGACGACCCGGGGGCAGGGGGCGGGGGTGGCCCTCACCCGTGGGGCACTCGCACTGGAACTCATTGATCTTGTCCAGGCAGCGGCCATTGTGCAGGCAGGGGCTGCTGGCACACTCGTCTGTGTTGACCTCGCAGTGCACACCCTCGTAGCCTGTGGGGTGGGGCAACAGTGAGGGGGGCACGCGCGGCCCCAGTGCCCCACTGGGCACAGCTGTGGACTTGGGACAGAAACGAACCCTGCCTCCAGCCCAGTGTCCCAGCCACCACGGGCCCCCTGCGCACCCGCTCCCCTGCAGCCCGTGGCCCCTGGCCCGGCACCCTCATCTGCCTAGCACTGCCCCCGTGCTCTGCTGGCCCTGTGGCCTGGCCTCAGTTTCCCCATGCCCTGTGCAGGCTGTGGGCCCAGAAGGCATGGAGGCTGGGGAAAGCGGAAGCAACCCACAGATGTTCCCGGGGCTGCCCCTCCAAGGCTGCCCAGCCTCGACTCGGTTTCCCGCCCTGGCCCCGGCCGACGCACCGGGCATGCAGATGCACTGGAACTCCCCAATCTGGTCCAGGCAGGTGGCGTCGTTCTGGCACGGGTTCGAGACGCACTCGTTGACGTCGATCTCGCATCGGGGGCCCGTGTAGCCCTGCAGACACTGGCACTCGAAGGAGCCCAGCGTGTTGATGCACTTGCCCGCATGCTCGCAGGGGTTGGCACCTGGCGAGGGCACACGGGTGAGAGGCTGCTCCAGGCACCCTGGCCCCTGCAACACCTCACTGCACACCACCCCCATCGGACTGGCAGGGTCCCATCCCCCATCTAACTGGGCACCCCCTGAAGCCAGAATCGACTTCTCATCGGTTCTGGGGCCAGGCTGCCACCCCCACCTGGCCGCACCCCCTGTGCTGGCACCTACCCAGCGAGCACTCATCCACGTCCTGGCTGCAGGCCGGGCCCGTGTACCCCGAGGGGCAGGTGCAGATGGCCTTGCCATTGACAGGGTTGGTGTCGCAGTTGGAGCCCTCGTTACAGGGGTTGCTGATGCATGCGTCGTTGAGGTGGCACAGCAGACCTGGGCAGGCAGCGGCGGTCAGTGGGCACGGCCCCTGGGCCAGGCATGGCACACCACCCACGGCTGGGGTCCAACCCCACTGACACCCCAGGAGGAGCTGCCCGCCGTGACCCCGTCGGGCATCCCGTGACACTTGGGACGTTCCGGGGGACTCACAGCGACCACCGGCCTCCCTGACCAGAAAGGCCCTTTCAGGTTATCCTGGGTGCAGGAGGGCCACAGTCCCTGGGTGAGGTCACACAGCTCAGGCCTGGCCCATGTGAGCCCCCTGCGCCCACCTGGGCCTCAAGGCACTCACCTGTGCGGCCATGGGGACACTCGCAGTAGAAGGAGGCCACACGGTCATGGCAGGTGGCGCCGTGGAAGCAGGCGGCGCTGGCACAGTCATCAATGTTCTCGCTGCAGTCCTCACCAGTCCAGCCGTTGACACACACGCAGTTGTAGCCACCGTGGGTGTTGTGGCAGGTCCCGCCGTTCTGGCAGGCATTTGGCATCAGCTGGCACTCGTCCACATCCTCGGTACAGTACTGACCTGCAGGGAACAGGAGCTGTCGGCCCCGGGCAGCTGCCACTCCCTGAGCTCCCTGTCCCCTAAGACGCAGGGTGGCAATGCCGCCCCCTCCAGGAAGCCTTCCTGGGCTGACTCCTCCACCCACCGCCAGCCTAAATCACTCCTTCCTCTGCAGGCCCAGCACCATGGAGTCTTGCCTCCTCTTTGTGCTCTGTGGACACTGCTGCGTCGGGGTGCACCTTTGCCCGTCACCCCACCAGAGGGTAATTCCCGAACACAGGGCCTGTCTGTTCATCCAGGCATCCCTGTGACTGGCCCAGGAAGCGTGGCCTGAGTGGGGTGCTGAAGGCCCTCAATGCCAGGACACCCCACTGGGCACAGGGGCTGCCTGGAGCCAGGTTGCAAACGGCCCACACAGACCAACCAGGGCCCTGTCTGTGCTGACCCCCGAGGTGAGGGGCACCAGACCCTGGCCACGGGAAGTGGGGCCCCCATCATGTTGTCCTTCTCGGCCAACCCTAGTCTGCCTGGCCTGGGACAGGGTCTCGGCTGCTCCCCGCTATGCCTGTGAGTGCAGTTTAGTAAGTGGGTAGCAGCCCCGCCCCGGCTACCCCGCCCTGCGGCGACCCGTATACGCGCCTGTCCACTCTGGCGGGCAGCGGCAGTTGTAGGTGTTCACGCCGTCCACACAGGCACCCCCGTTCTTGCAGTTGTTTCCTGGACAATCGTCGATATTTTCCTCACAGTTCTGGCCGGTGAAGCCTGCCGCAAGAGGGGCCGGGTCAGCCTCTTCCCTGAGGTCCAGTCCGGCTCCTGCCTGGACCCCCGACACACTGCTCTGGACACAAGAGCCTGGCCTCCACGGCCCTGCCCTGGGGCCCCCGGGGTCTGTGCCCGTCCCCTGCCTCACTCCAGTGCCCAGAGGGACACGCCCTGCTTGAAAGAATCATTTTGGACAGGACTGGCTAAACAGGGACTCAGGAACACAGGGTTCCAGAAGATTCTGTCACAAAAACCCTTGGGTCTCTTTTAAGAGGTTCCGGCAGCTCCTGCACCTGGGTGCCGCCTGCATGCTCAGAGCTCCCTACAATGTCTCCACAGGGGGGCCGCACACCCCATCTTCAGGGGCTGACACTGGGGCCTGGGCTCTGAGCAGCAGGGGGACATGGGGCCAGCAGGCTGCTGGCTGGGGCAGGGTGGGCCCCTCGCAGCCCCAGGGAAGCTGCAGAGATTCAGATGGCCCATCCTCCCTGGGGCAGAGCTCTGGTGCCCACCTCCTCCTCCCCCTCCTCCTCCACAGGCTGCCAGGGCCCCCTCCCCCGAGGTATGGCCCCACCCAGGCCTCCAAGGCAGCCAGTTAGCTA | CTGGCACAGATGCCCAGTGAAGCCTGGGGCCGGGGAGGGGAGGGGAGGGAGTCATGTGCAACAGCACTATGGCCCTTCAGGGACCCCTGGCCAGACCCCAGCAGTGAGCGCCTGGCTGGGCTCCCCAGGGCACACTCAGCCTGAGCTCAGCCAGCTCCAGCTCTCCCTGCCTCCCGCTGCCCGCTCCCCGGATCAAAGCCCCTCCCCCAGCACCACACGCCCTCGCTCCCACAGAAGGGGCCTTTTTCCCAAACCGACTGGGTTGCTATGGCTACAGTGGAGCCGGGCTGAGAATGGGGCTCCCCTCGCTCCAGTGTCTGGGACGGGTAATCTATGTCTTGGGAGCCTAGGCTTGGGCTGGCAACGCCTCCCTGGGCTCTGCGCCCCGGCCCCCAGCTCTGGGACAGATGGAAACACCTTTCACCCAGGCCCCTGAGAGTTCCTCCAAGTCCGCCCCGGGCAGCCATCATCTCCATTGCAGGCCAACCTGCCCCACGTGGTTCTCTGCATACCCTTGTCGCTGGCGTGCCGTTGGGCAGGGGACATGGCAGGACAGGGCAGGCTGGCCTCCCTCCCAGCATCGAGCCCTCAGAAAGCCAGGCTGGAGCCTCCTCCCTGTCTGGGCACTGCAGCTCCTGGTATACCCTTCTCTCCAGGCAGAAGGGGCTGCACCCAGATCAAGGAGGATCTCCTGGCCCTGGGCTCCACCGCGACCCCTGGGCAAGCTCCCACTCCCCACTGGGCCCTGCCCTTCCTTCGGGGAAGTCTGAAAACACTCCCATCCACTCATGAGGCAAAACCCTCGCTCTCCTGGGAATCTGAACACAACCAATGGCCAGGCCCCCCTCAGAAGGCCGGGGTGCAGACGGCCCAGGGGCAGGGGACACAACCTACGGCCAGGCACCCCTCAGGAGGCCGGGGTGCAGACGGCCCAGGGGCAGGGGACACAATCCACGGCCAGGCCCCCCTCAGGAGGCCGGGGTGCAGACGGCCCAGGAGCAGGGGACACAACCCACGGCCCTCACCCCTCAGGAGGCCGGGGTGCGGACGGCCCGAGGGCAGGGGGTGGGGGCGGCCCTCACCCCTCAGGAGGCCGGGGTGCAGATGGCCCGGGGGCAGGGGACACAACCCACGCCCAGGCACCCCTCAGGAGGCCAGGGTGCAGACGACCCGGGGGCAGGGGGCGGGGGTGGCCCTCACCCGTGGGGCACTCGCACTGGAACTCATTGATCTTGTCCAGGCAGCGGCCATTGTGCAGGCAGGGGCTGCTGGCACACTCGTCTGTGTTGACCTCGCAGTGCACACCCTCGTAGCCTGTGGGGTGGGGCAACAGTGAGGGGGGCACGCGCGGCCCCAGTGCCCCACTGGGCACAGCTGTGGACTTGGGACAGAAACGAACCCTGCCTCCAGCCCAGTGTCCCAGCCACCACGGGCCCCCTGCGCACCCGCTCCCCTGCAGCCCGTGGCCCCTGGCCCGGCACCCTCATCTGCCTAGCACTGCCCCCGTGCTCTGCTGGCCCTGTGGCCTGGCCTCAGTTTCCCCATGCCCTGTGCAGGCTGTGGGCCCAGAAGGCATGGAGGCTGGGGAAAGCGGAAGCAACCCACAGATGTTCCCGGGGCTGCCCCTCCAAGGCTGCCCAGCCTCGACTCGGTTTCCCGCCCTGGCCCCGGCCGACGCACCGGGCATGCAGATGCACTGGAACTCCCCAATCTGGTCCAGGCAGGTGGCGTCGTTCTGGCACGGGTTCGAGACGCACTCGTTGACGTCGATCTCGCATCGGGGGCCCGTGTAGCCCTGCAGACACTGGCACTCGAAGGAGCCCAGCGTGTTGATGCACTTGCCCGCATGCTCGCAGGGGTTGGCACCTGGCGAGGGCACACGGGTGAGAGGCTGCTCCAGGCACCCTGGCCCCTGCAACACCTCACTGCACACCACCCCCATCGGACTGGCAGGGTCCCATCCCCCATCTAACTGGGCACCCCCTGAAGCCAGAATCGACTTCTCATCGGTTCTGGGGCCAGGCTGCCACCCCCACCTGGCCGCACCCCGTGCTGGCACCTACCCAGCGAGCACTCATCCACGTCCTGGCTGCAGGCCGGGCCCGTGTACCCCGAGGGGCAGGTGCAGATGGCCTTGCCATTGACAGGGTTGGTGTCGCAGTTGGAGCCCTCGTTACAGGGGTTGCTGATGCATGCGTCGTTGAGGTGGCACAGCAGACCTGGGCAGGCAGCGGCGGTCAGTGGGCACGGCCCCTGGGCCAGGCATGGCACACCACCCACGGCTGGGGTCCAACCCCACTGACACCCCAGGAGGAGCTGCCCGCCGTGACCCCGTCGGGCATCCCGTGACACTTGGGACGTTCCGGGGGACTCACAGCGACCACCGGCCTCCCTGACCAGAAAGGCCCTTTCAGGTTATCCTGGGTGCAGGAGGGCCACAGTCCCTGGGTGAGGTCACACAGCTCAGGCCTGGCCCATGTGAGCCCCCTGCGCCCACCTGGGCCTCAAGGCACTCACCTGTGCGGCCATGGGGACACTCGCAGTAGAAGGAGGCCACACGGTCATGGCAGGTGGCGCCGTGGAAGCAGGCGGCGCTGGCACAGTCATCAATGTTCTCGCTGCAGTCCTCACCAGTCCAGCCGTTGACACACACGCAGTTGTAGCCACCGTGGGTGTTGTGGCAGGTCCCGCCGTTCTGGCAGGCATTTGGCATCAGCTGGCACTCGTCCACATCCTCGGTACAGTACTGACCTGCAGGGAACAGGAGCTGTCGGCCCCGGGCAGCTGCCACTCCCTGAGCTCCCTGTCCCCTAAGACGCAGGGTGGCAATGCCGCCCCCTCCAGGAAGCCTTCCTGGGCTGACTCCTCCACCCACCGCCAGCCTAAATCACTCCTTCCTCTGCAGGCCCAGCACCATGGAGTCTTGCCTCCTCTTTGTGCTCTGTGGACACTGCTGCGTCGGGGTGCACCTTTGCCCGTCACCCCACCAGAGGGTAATTCCCGAACACAGGGCCTGTCTGTTCATCCAGGCATCCCTGTGACTGGCCCAGGAAGCGTGGCCTGAGTGGGGTGCTGAAGGCCCTCAATGCCAGGACACCCCACTGGGCACAGGGGCTGCCTGGAGCCAGGTTGCAAACGGCCCACACAGACCAACCAGGGCCCTGTCTGTGCTGACCCCCGAGGTGAGGGGCACCAGACCCTGGCCACGGGAAGTGGGGCCCCCATCATGTTGTCCTTCTCGGCCAACCCTAGTCTGCCTGGCCTGGGACAGGGTCTCGGCTGCTCCCCGCTATGCCTGTGAGTGCAGTTTAGTAAGTGGGTAGCAGCCCCGCCCCGGCTACCCCGCCCTGCGGCGACCCGTATACGCGCCTGTCCACTCTGGCGGGCAGCGGCAGTTGTAGGTGTTCACGCCGTCCACACAGGCACCCCCGTTCTTGCAGTTGTTTCCTGGACAATCGTCGATATTTTCCTCACAGTTCTGGCCGGTGAAGCCTGCCGCAAGAGGGGCCGGGTCAGCCTCTTCCCTGAGGTCCAGTCCGGCTCCTGCCTGGACCCCCGACACACTGCTCTGGACACAAGAGCCTGGCCTCCACGGCCCTGCCCTGGGGCCCCCGGGGTCTGTGCCCGTCCCCTGCCTCACTCCAGTGCCCAGAGGGACACGCCCTGCTTGAAAGAATCATTTTGGACAGGACTGGCTAAACAGGGACTCAGGAACACAGGGTTCCAGAAGATTCTGTCACAAAAACCCTTGGGTCTCTTTTAAGAGGTTCCGGCAGCTCCTGCACCTGGGTGCCGCCTGCATGCTCAGAGCTCCCTACAATGTCTCCACAGGGGGGCCGCACACCCCATCTTCAGGGGCTGACACTGGGGCCTGGGCTCTGAGCAGCAGGGGGACATGGGGCCAGCAGGCTGCTGGCTGGGGCAGGGTGGGCCCCTCGCAGCCCCAGGGAAGCTGCAGAGATTCAGATGGCCCATCCTCCCTGGGGCAGAGCTCTGGTGCCCACCTCCTCCTCCCCCTCCTCCTCCACAGGCTGCCAGGGCCCCCTCCCCCGAGGTATGGCCCCACCCAGGCCTCCAAGGCAGCCAGTTAGCTANN | benign | 155,881 |
Evaluate this variant at chromosome 9, position 136523163, gene NOTCH1 (notch receptor 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Adams-Oliver_syndrome_5'] | GAGGGCCCTTCAGGGGGCCTGGGTGCAGGGGCCGCCGGGGACAGTCTGAAGCTGGGGTCTGGCAGGCCTGAGTCATTTGGGGAGGCCCCCGGATGGTCATCTCACCCTGAAACGGCCAGACTCCACAGCAGGCAGTGAGCACACCCCTCACCGGACGGGTGACCCAGCCCCCAGCACCCCAGCCTCTGAGATCTACCCACACTCAAGTGAGTGAACCCCACCAGCCCCTCCCCTTCCCTCCCTGCCCACTCCCCAGGGCCCTGAGCTGCCCCTGCACGGGCAGTGGCTCTGAGCCGGCCCAGCACCCCTGGCATCTCTGCCGCTGGGCCTCACCAGGAGGTCCTCACCCACCCTGCCCAAGGCGGGTGGGCATCAGCTCTGCACACAGGTGGCCTTGGACAAGGCCGCACACACCCCACCTGCCCTAGCCTGAACCACGGCCCCCCAAGAGCTTGGCCCCTCAATCCGTGTGACTGGAGGTAGGGTCCCGTGCTGCTAGGAAGGCATCTGAGCCCCCACCAGCAGAAGGGCTCTGCGCCCCACCCTGCAGAGATCCAAGCTGGCCAGGGAGTGTCTGTCCCCACCCCACGCTCGCCCAGTGACTTGCAGGAAACGCACACGTCTGGTGTCTGCACGCAGAGGTGGCTGGGCTCAGCTGACTGGGCAGCCAGGGAGCTTCCCCTTTGCAGGGGCCAGGCCAGCTTGGGGCTTCCAAGGGGGTGGGGCAGCCCTTGGGCCACCCGTGGGTCAGCCAGGACCCTGTGCACCCTCCAGCCCCACCCCTGCCTGAATGCCCTCTCCCCATTCCCACCTAACAGCCATTCTGTGCAGCTGAGATTGGAGGTTTTCTTTTTTCTCTTCACTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTCCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCGTGCCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCGTGTTAGCCAGGATGGTCTCCATCTCCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGAGTACAGGCGTGAGCCACCACGCGCGGCCGAGACTGGAGGTTTTCAAAACTCTTCCTTATTTTTAGAGCTGCTGCAAAATTTACTCAAACAAGAACTACAGCAGAGAGGCTCCTACGTACAACACGGGGATCGGGGAGCACTGGGGACACGGGCAGGCGGCTGCGCCTACCTGTCACCCACACCCGCAGGAGACCAGCAGGATGGCAGGAAGGGCCATGGCTTGGGAAGTGATGGTGCCCCCGCAGCTCCCACGCCCTCTCCGGCCCCAGCCCCACTGCAGGGGAAACCCTGGGGGTTGCGCAAGTCAGGGTGCCTGCACTGGGGGGAGGCAGGGCGTCCTACAGCTCGAATGTGAGTTCCGGGAAACTCCAGAGACACGGGCTGGCACCTGGACCCTGTGCAAGCCTCCTCCCAGCGCACACCCCGCTCCAGACGCGTCCCCCCGACACCACACGCAGTCTGGGGAACTCGCCATCCCGCCTTCCCAACTCCCCGCCATGGGCCCTCCCAGGGCTGCCCCTACACCAGGCGCCCCGTTCCCACCCCCTGGGCCTGGCAGCCGGGGAGGGGCTCGTGCACCCCGGCCAGCGGGCAGCACTACCTGGCAGGCAGGCACACTCGTGGGTGACGTCGCCCGTGGGGCGGCAGGTGCCCCCGTTCTGGCAGGGCGAGGGGCTGCAGGGCACGTAGGGCCGCTCGCAGTTGGGGCCAGTGTGGGTGGCGCGGCAGACGCAGCGGTAGGAGCCGACCTCGTTGTGGCAGGTGCCTCCGTGGCGGCAAAGCCCGGGCTTCTGGCCACACTCGTTGACATCCTGCCGGCAGGTGGGGCCATGGAAGCTGGGTGGGCAGTGGCAGATGTAGGAGGCCTCGAAGGGCAGGCACTGGCCACCGTTGGCGCAGGGGTTGGAGGCGCACGGGTCAGCCTGCTGGCACGATTTCCCTGGAGACAAGGGGACAAGAGGGTCGTGCTGGCCTCACTGCTCCCCGAGGCCGGGCCTTCCCTCCCTTCAGGCCACCTGGAGGTGCCAGCCTGGGCTCCACCTTAGGTGCTATCACATTTGATCCTCAGGACCTGCCGTGAGACCGGTCGCCTTTGGCAGATGAAGGACCACAGCTCCCAAGAGGCCTGAGCCTGGGCCGTCTCTTCCCAGAGCTGACACCTCCAGACACCCTTCACCCTAACAGGTGAGGGCCAGTGCACGGCAGGAGGAAGGGGGCAGGGGCGGCCTGGACACAGAGGCTCCCCTTGTCTCGCAGAAGCGGGGACAGCAAGAGTTGGGCCAGAGCAAGCAGCTGAAAACGAGGCGATTCCAGGTCTGGGAGGGGGGCAGGGACCCTGGGGCAGGGGCTCCCAATTACTTCCGGGTCAGAGACCCGGGCCTGGATCCCGCCAAGTACCTCAAGTTGCCTGGGCAGCTGGCGGCGGGCCTGGGTCTGCCCACCCCTCAGGCTGTGGGTCCTCCCTCACCTGACCAGCCGGGCGGGCAGCGGCACTTGTACTCCGTCAGCGTGAGCAGGTCGCAGGTGCCCCCGTTGCGGCAGGGGTTGGTGAGGCAGGCATTGTCCAGGGGTGTCAGGCAGAGGGGCCCAGAGAAGCCCAGGGCACAGCTGCAGGCATAGTCTGCCACGCCTCTGCGGTCCACCACGTGGCATGTCCCGGCGTTCTTGCAGGGGGTGCTGAGGCACGGGTTGGGGTCCTGGCATCGCGGGCCCACGAAGGCCCCGCCACAGCTGTTGGCAGATGTGCCAGGGCAGTTAGTTCCCACCTGCTTCCCCAGCGCCCCCGCCACTCAGCACCGGGAACCTGTCATGGGCACAGCCGCCTCCCCCCACACCCCGGGCACGGGCACAACGGCTGCTTAGCGGGGTTCCCTTAGGGCTGATAAAATGTTCTGGAACCAGACACATGCCGCGATTGCACAACTTTGGGAATGTACTGAATGCCACTGAATGAGGCTGAAGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCAAAAAAAGAAAGAAAGAAGAAGACAAATGACTGCTAACTTGGGGAACAAGCTAGAGACTAGGATGTTCCAGCAGAACCCAGCTTGGACTCCACAGCCCGGGCAGGGGTCTGGGTCTACACCCGCGGAGAGCCATGGAGAGGAGCCGGGTGCATTAGCTCCGTAGAGCCTCCGGGTCTGCAGGCCTATCTGCTTTTCTTCCCAGCTTTGCTAAAGCGAACAGGCATTGCTTGGGCAGTAACAAAGGCCGTGGTTTTTCCAACCTTCAGGTGTCAACATGATGGCAGCCACGGAAAGTGTGGATCAGCCCCTTCCTACGTGGAAGCCTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGGGGCGCGATCTAGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGACACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCTTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCGCGCCCGGCCAGGAAGCCTTTCTGATGGGACACCTCAGGCTGAGACTGCAATGGGGATGGGACATCTCATGTCAAGATCGCACTGGGGATGAAGGCTGGCCCGTTCCCTGCCCACGCTCAGCCCCCAGACACGTTTCCCTTTCGGCATTGAGTCTTCATAACTCACATCCAGGCACATCAGCCAGGAGCAGAAGCACCCACATTACAGCCGGGGAAACCAAGGTGCCAGGAGGAGGTCCCTCTGCCAGGTCTCTGCAACCCCGTCAAGGTGGGTGAAAGGCTGCC | GAGGGCCCTTCAGGGGGCCTGGGTGCAGGGGCCGCCGGGGACAGTCTGAAGCTGGGGTCTGGCAGGCCTGAGTCATTTGGGGAGGCCCCCGGATGGTCATCTCACCCTGAAACGGCCAGACTCCACAGCAGGCAGTGAGCACACCCCTCACCGGACGGGTGACCCAGCCCCCAGCACCCCAGCCTCTGAGATCTACCCACACTCAAGTGAGTGAACCCCACCAGCCCCTCCCCTTCCCTCCCTGCCCACTCCCCAGGGCCCTGAGCTGCCCCTGCACGGGCAGTGGCTCTGAGCCGGCCCAGCACCCCTGGCATCTCTGCCGCTGGGCCTCACCAGGAGGTCCTCACCCACCCTGCCCAAGGCGGGTGGGCATCAGCTCTGCACACAGGTGGCCTTGGACAAGGCCGCACACACCCCACCTGCCCTAGCCTGAACCACGGCCCCCCAAGAGCTTGGCCCCTCAATCCGTGTGACTGGAGGTAGGGTCCCGTGCTGCTAGGAAGGCATCTGAGCCCCCACCAGCAGAAGGGCTCTGCGCCCCACCCTGCAGAGATCCAAGCTGGCCAGGGAGTGTCTGTCCCCACCCCACGCTCGCCCAGTGACTTGCAGGAAACGCACACGTCTGGTGTCTGCACGCAGAGGTGGCTGGGCTCAGCTGACTGGGCAGCCAGGGAGCTTCCCCTTTGCAGGGGCCAGGCCAGCTTGGGGCTTCCAAGGGGGTGGGGCAGCCCTTGGGCCACCCGTGGGTCAGCCAGGACCCTGTGCACCCTCCAGCCCCACCCCTGCCTGAATGCCCTCTCCCCATTCCCACCTAACAGCCATTCTGTGCAGCTGAGATTGGAGGTTTTCTTTTTTCTCTTCACTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTCCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCGTGCCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCGTGTTAGCCAGGATGGTCTCCATCTCCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGAGTACAGGCGTGAGCCACCACGCGCGGCCGAGACTGGAGGTTTTCAAAACTCTTCCTTATTTTTAGAGCTGCTGCAAAATTTACTCAAACAAGAACTACAGCAGAGAGGCTCCTACGTACAACACGGGGATCGGGGAGCACTGGGGACACGGGCAGGCGGCTGCGCCTACCTGTCACCCACACCCGCAGGAGACCAGCAGGATGGCAGGAAGGGCCATGGCTTGGGAAGTGATGGTGCCCCCGCAGCTCCCACGCCCTCTCCGGCCCCAGCCCCACTGCAGGGGAAACCCTGGGGGTTGCGCAAGTCAGGGTGCCTGCACTGGGGGGAGGCAGGGCGTCCTACAGCTCGAATGTGAGTTCCGGGAAACTCCAGAGACACGGGCTGGCACCTGGACCCTGTGCAAGCCTCCTCCCAGCGCACACCCCGCTCCAGACGCGTCCCCCCGACACCACACGCAGTCTGGGGAACTCGCCATCCCGCCTTCCCAACTCCCCGCCATGGGCCCTCCCAGGGCTGCCCCTACACCAGGCGCCCCGTTCCCACCCCCTGGGCCTGGCAGCCGGGGAGGGGCTCGTGCACCCCGGCCAGCGGGCAGCACTACCTGGCAGGCAGGCACACTCGTGGGTGACGTCGCCCGTGGGGCGGCAGGTGCCCCCGTTCTGGCAGGGCGAGGGGCTGCAGGGCACGTAGGGCCGCTCGCAGTTGGGGCCAGTGTGGGTGGCGCGGCAGACGCAGCGGTAGGAGCCGACCTCGTTGTGGCAGGTGCCTCCGTGGCGGCAAAGCCCGGGCTTCTGGCCACACTCGTTGACATCCTGCCGGCAGGTGGGGCCATGGAAGCTGGGTGGGCAGTGGCAGATGTAGGAGGCCTCGAAGGGCAGGCACTGGCCACCGTTGGCGCAGGGGTTGGAGGCGCACGGTCAGCCTGCTGGCACGATTTCCCTGGAGACAAGGGGACAAGAGGGTCGTGCTGGCCTCACTGCTCCCCGAGGCCGGGCCTTCCCTCCCTTCAGGCCACCTGGAGGTGCCAGCCTGGGCTCCACCTTAGGTGCTATCACATTTGATCCTCAGGACCTGCCGTGAGACCGGTCGCCTTTGGCAGATGAAGGACCACAGCTCCCAAGAGGCCTGAGCCTGGGCCGTCTCTTCCCAGAGCTGACACCTCCAGACACCCTTCACCCTAACAGGTGAGGGCCAGTGCACGGCAGGAGGAAGGGGGCAGGGGCGGCCTGGACACAGAGGCTCCCCTTGTCTCGCAGAAGCGGGGACAGCAAGAGTTGGGCCAGAGCAAGCAGCTGAAAACGAGGCGATTCCAGGTCTGGGAGGGGGGCAGGGACCCTGGGGCAGGGGCTCCCAATTACTTCCGGGTCAGAGACCCGGGCCTGGATCCCGCCAAGTACCTCAAGTTGCCTGGGCAGCTGGCGGCGGGCCTGGGTCTGCCCACCCCTCAGGCTGTGGGTCCTCCCTCACCTGACCAGCCGGGCGGGCAGCGGCACTTGTACTCCGTCAGCGTGAGCAGGTCGCAGGTGCCCCCGTTGCGGCAGGGGTTGGTGAGGCAGGCATTGTCCAGGGGTGTCAGGCAGAGGGGCCCAGAGAAGCCCAGGGCACAGCTGCAGGCATAGTCTGCCACGCCTCTGCGGTCCACCACGTGGCATGTCCCGGCGTTCTTGCAGGGGGTGCTGAGGCACGGGTTGGGGTCCTGGCATCGCGGGCCCACGAAGGCCCCGCCACAGCTGTTGGCAGATGTGCCAGGGCAGTTAGTTCCCACCTGCTTCCCCAGCGCCCCCGCCACTCAGCACCGGGAACCTGTCATGGGCACAGCCGCCTCCCCCCACACCCCGGGCACGGGCACAACGGCTGCTTAGCGGGGTTCCCTTAGGGCTGATAAAATGTTCTGGAACCAGACACATGCCGCGATTGCACAACTTTGGGAATGTACTGAATGCCACTGAATGAGGCTGAAGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCAAAAAAAGAAAGAAAGAAGAAGACAAATGACTGCTAACTTGGGGAACAAGCTAGAGACTAGGATGTTCCAGCAGAACCCAGCTTGGACTCCACAGCCCGGGCAGGGGTCTGGGTCTACACCCGCGGAGAGCCATGGAGAGGAGCCGGGTGCATTAGCTCCGTAGAGCCTCCGGGTCTGCAGGCCTATCTGCTTTTCTTCCCAGCTTTGCTAAAGCGAACAGGCATTGCTTGGGCAGTAACAAAGGCCGTGGTTTTTCCAACCTTCAGGTGTCAACATGATGGCAGCCACGGAAAGTGTGGATCAGCCCCTTCCTACGTGGAAGCCTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGGGGCGCGATCTAGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGACACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCTTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCGCGCCCGGCCAGGAAGCCTTTCTGATGGGACACCTCAGGCTGAGACTGCAATGGGGATGGGACATCTCATGTCAAGATCGCACTGGGGATGAAGGCTGGCCCGTTCCCTGCCCACGCTCAGCCCCCAGACACGTTTCCCTTTCGGCATTGAGTCTTCATAACTCACATCCAGGCACATCAGCCAGGAGCAGAAGCACCCACATTACAGCCGGGGAAACCAAGGTGCCAGGAGGAGGTCCCTCTGCCAGGTCTCTGCAACCCCGTCAAGGTGGGTGAAAGGCTGCCN | pathogenic | 155,963 |
Evaluate if the mutation on chromosome 9 at position 136544003 in NOTCH1 (notch receptor 1) is benign or pathogenic. Disease name(s) if pathogenic? | benign | CAGGCCCCAGCAAAGGGGACAAGGCCAGGCACCAAAGCCATGGTCGGCGGCCTGCCTTGGGCTGGAAACAGCTCACCGGGATCCCAGGTTTGGGGAATGGGAAAGTGGGCCCATGACACCAGTGTTTTGCGGCCCTGTGGCAGGGTTTTAACCCAGACACCAGGGAGCTGCAGCAATCTGTACCCCAAAGCACAGCGCTCTGGCCCAGGGAGACCTCAGTCCCAGACCCCTGTGGGCCAGGCTGTGCCTACTCCCTGGTGCCACTGAGAAGAAGCAACAGGCCCCCAATTTTCCCAGCACGGTGTTCCTCCCACCCTCCCAAAGTCCTCTGCAGGAGCAAGAAGCTTCTCCCAGAGCCCCGAATGGGTGAGAGGCAAAGTCCGAGCCGGGAGCGCAGTGGCGGGGAAGGGGGTTATACATTCTGGGAAGCCACGCATAATTAATCACACGGCATTAATCCGCCTCCCCCAACAATAGCTGCTGCACTTCCCCTGGATCCCAGCTGTCGGTCTCTGAATGAAAGGAAACAAGATTTAGGGCATCAAGCGTCCGTGCGGCTTCTGCAGAGGGAGAAGGGGGCCCCAAAAAGCAAAAAAAAAAAAAAAAAAAAAAGTAGTGCGCATTCATTAGTGTCTGACAAAGACACAATCGGCTTTGTCCATTAAACTGCTCACAGACCTGCTTAATTGGCTTCAGTTTGGGGAGGGTGGGGGCCGGGGAGGGAGGGGGCCTGCTGCCCACAGGCTGGGCAGTCGGCACAGGCAGGAGCCGGGCTGGGGTTGTCAAGGGAATGGGACCTTCTGCAGTTGGAATGAGGGCGCGCAGACTGGCTGGGGAGCCATTTCTTCATCTGTAGCTCCTGGGGGGCGGAGGGAACTCTTTTTCCAGACACCAAACACCTCCTCATTATTCTCATCAGGGATGGACTCAAGTTGAAGGGCATCGGCCACAGCAGAACAGTTCCCCACGGCTGATGGGCACTCACAGGCAGGCAGGAGGGAGCGGTTCCGCACGACTTCCCGGCCCCCTCAGTGCCCATTTTACATCTGAGGCTGGCAGACCAGAAGGGCCACGGGATTTTGAGGTCAGAGTTTGCAGATGCCAGGACAGAAACCAGACTCAATAATTACCCCACACCCCACGCCAAAACATGAGTTCCACCTTCTCTTCCCCAGCCCCAGCCTGAGGCCGGGAAGAGGGAGCTGGGGCAAACAGAGAGCCCAAAGGCGGGTCCGATTTTGAAGAGTCAATTTCCTTTGAAGAGGCATCACCCACCCGGAGGTGGCATCACCTGCCCAGGAAGTATCACCTGTGCCTAGAGGAGGCATCACCCGCCTAGAGGAGGTATCACCACCCAGAGGAGGCATCACCCACCTAGAGGAGGTATCACCACCCAGAGGAGGCATCACCCACCCAGGAGGTGGCATCACCCGTGCCCAGAGGAGGCATCACGCACCCAGAGGAGGCATCACCCGCCCAGGAGGTGGCATCACCTGTGCCCAGAGGAGGCATTGCCGCCAGCCCAGGAGGCATCACGCACCCAGAGGAGGCATCACCCGCCCAGGAGGTGGCATCACCTGTGCCAGAGGAGGCATCACTACCAGCCCAAGAGGCATCACCACCCACCTAGGAGGCATCACCCCCGAGAGGAGGCATCACCTGTGCCCAGGAGGCATCACCCGCCCAGAGGAGGCGCCCCAAGTTGGCAGGGTGGTGGGGGCTGGGCCTCTCAGTAAATGGTCCAGAGCTTCCCCTGGCAGATCAACTGTTTCTTGGGGACTTAAAGAAGAATTGGGGTACTGGGACTCCCACTTAGTGACCCCGGAGCCTGAGGTGGCCCACGGAGGAGTGCCCAAGCCCTCAGCAGCCAGACCAGCTCCACACGCAGCATAATTGCTGGTGATTAAGTAATTGCCAGACTTTGTCCAATAAAAGTCAGCACGTGACCGTGCCCAGACTCTGGGCCATCTCCAGAAGACAATGGCCTAGTGTTCTGTCCCCTGCGCGGCTGCAGAAGGCAGGGGCTCTGCCCTCGACAAAGCAACAGGTCCCGCAGGGGTGGTACTCACACGCAGGCCTCCGTGCCATTGGCCGCTTCACACTTCCCGCCATTCAGGCAGGTCTCACCGGGCTGGGAGCATCGCGGGCCTAGGCAGGGGCAGGAGAAGAGAGGTCAGTCTCACCCGCACCACCACCACCGAAGGCCCTGGTTACCCTGGGGGCGGGGACCTGCACCCAGCCAAGGGGCATCGTCCGCCCCCTACCCCGGACGCACTCTGCTCAGTATCATGGGTTGCTGGGGCACGGGTCCGCAGGAAGCCCCTCCATGAAACCAAAGGGGCGTCAACATTCTGCCCAGAGTTCTGTAGTCAGAAATGGGGGGAAGGGGAGCAGCAGGGAACACGTCCTGCTTGAAGCAGGGTGGGGTGGCCTGATGTGCCGCCTGGACGCAGTGGGGGAAAAGCAGAGACAAAGTGGGCTACTCTCCAAAGCGTTGCCCCCCACCCTGGAGGCTCACTGAGGAGTCTGGCAGGGCAGGGCCCCCCATCCAGCCGCCGAGATTGCCTCTGTTCAAACCCGTTCTGCAAGGGGGCAGAGCTGGACGGGGGGAGGGGGGGTGGCCACACTCAGCTCCCGCCCGTGGGAAAATGCGACAGCTGCTCGCCCGCTACCCCGCCCGCCAACAAAGCGCCGGCCTCCGCCTCAGAATCAGAGCGGCCCATTGTGGAGTCGGGGCCGCCTCCAGGGGCACCGGGACAGCACCCTGGGGACGCGGCCCCGCCTCCGCCGACACCCAATACCTGCCTCCGCGGGCGCGCATCTCCAGGGCAGCCCCCATACACCCACAGGAGGGGGATGAAGGTCCCCCATTCGGAAGGAATTCGACCCCATCTCGAGAAGGGATCAATTACTCAAGCCCCTCCCTCCCCATCTTACCGGGGCTGAGAAACGGGGGAGGGGGGTGTGACACAGAGCCGCACTTTCTGGAAGAGGACAGATAATTCTCGCCTCCAACTCTCGGAGAAAGAGTGGATTAATCACTCGATTCCCCAGAGACCCCGCTCGCTGTGCGGCGGGGAGAAATGTAAGAGCCCCCCACCCGCGTCCCGCTCTCCGCCCCCAAGCTTTCCAAACTTCAACTCCGCAAAGCAAAAGGAAAGTTCAGTCCCCCCGGGCGCGGCGGCTTCTTACGCAACCCCTCCCCCAAACTGAGAGCCGGGCTGGGGGGCACCGGCGGGCGGGGCGACCGGGAGCCCGGGGACCCAGCCCGGCCGCGCGGGTCAGTGAAGGCGAACGCGGCGCCGCAGAGCCCACACTCCGCGCCCCAACATCCGCCCCGGCGTGGGCCAGAGGCGAAGAAGAAAGAAGATAAATGGCCCGGAGAAGCAACAGGAAACCAAAACCGACTCTATTCAAATCGAAAAATAGTAGGCAGCCCGCCCGCCCGGCCGACCGGCGGCAAGCCCCACGCGCGGCGGGTGAAGGGCGGGCCCGGAGTAGGGCCTCCGGGGCCCCAGCACCCCACACCGGCCTCCTAACTCGGCTCCAGGCACGGGCGGCGCGAGTCCGCCTCCACGGGGGGATCGAGGGGGAAGGTCGGTCCTCCCTGATCCCGGGACTCCAGAACCCCACGCCCCGGGCCGCCCGCTTTTCCCTCTCCATGCTGGCCTCCCCGCCGCCCGCTCCCAGCCGTGGGGCGCGCGCGCCGGGCGCCGCCAAAGTTTCCAAAGGGCGCGGAAAGTGGGGGCTCGCGGGTGGGTGGGCGCCTACCTCGTGCGGCGAGCGCGGGCAGCAGCGCCAGGCAGAGCAGGGGCGCCAGGAGCGGCGGCATGCCTCCCCACCGGCTGCCCTCTGCGCCCGGGCGGCGGCCTCCTGCGCTGGCCGGCGGGGCTGGGACGCACACGCGCGGCGTACGGTCCCGGGGCGGCGGCGGACGGTCCCGCCCTCTCTTCCCCGGCTGGCTGGCGGCGCTGTGCTCTCGCAGGCCCCCGGGCCCGGCTCCGCGCCCGGCTCGTTCCTTCGCTGCGCTCGCGCCCGCGCCCGCGCCCCGCGCCCCGCGCCCTTGCGCTCCCTCCCGCGGCCGAGGCACTAGTGA | CAGGCCCCAGCAAAGGGGACAAGGCCAGGCACCAAAGCCATGGTCGGCGGCCTGCCTTGGGCTGGAAACAGCTCACCGGGATCCCAGGTTTGGGGAATGGGAAAGTGGGCCCATGACACCAGTGTTTTGCGGCCCTGTGGCAGGGTTTTAACCCAGACACCAGGGAGCTGCAGCAATCTGTACCCCAAAGCACAGCGCTCTGGCCCAGGGAGACCTCAGTCCCAGACCCCTGTGGGCCAGGCTGTGCCTACTCCCTGGTGCCACTGAGAAGAAGCAACAGGCCCCCAATTTTCCCAGCACGGTGTTCCTCCCACCCTCCCAAAGTCCTCTGCAGGAGCAAGAAGCTTCTCCCAGAGCCCCGAATGGGTGAGAGGCAAAGTCCGAGCCGGGAGCGCAGTGGCGGGGAAGGGGGTTATACATTCTGGGAAGCCACGCATAATTAATCACACGGCATTAATCCGCCTCCCCCAACAATAGCTGCTGCACTTCCCCTGGATCCCAGCTGTCGGTCTCTGAATGAAAGGAAACAAGATTTAGGGCATCAAGCGTCCGTGCGGCTTCTGCAGAGGGAGAAGGGGGCCCCAAAAAGCAAAAAAAAAAAAAAAAAAAAAAGTAGTGCGCATTCATTAGTGTCTGACAAAGACACAATCGGCTTTGTCCATTAAACTGCTCACAGACCTGCTTAATTGGCTTCAGTTTGGGGAGGGTGGGGGCCGGGGAGGGAGGGGGCCTGCTGCCCACAGGCTGGGCAGTCGGCACAGGCAGGAGCCGGGCTGGGGTTGTCAAGGGAATGGGACCTTCTGCAGTTGGAATGAGGGCGCGCAGACTGGCTGGGGAGCCATTTCTTCATCTGTAGCTCCTGGGGGGCGGAGGGAACTCTTTTTCCAGACACCAAACACCTCCTCATTATTCTCATCAGGGATGGACTCAAGTTGAAGGGCATCGGCCACAGCAGAACAGTTCCCCACGGCTGATGGGCACTCACAGGCAGGCAGGAGGGAGCGGTTCCGCACGACTTCCCGGCCCCCTCAGTGCCCATTTTACATCTGAGGCTGGCAGACCAGAAGGGCCACGGGATTTTGAGGTCAGAGTTTGCAGATGCCAGGACAGAAACCAGACTCAATAATTACCCCACACCCCACGCCAAAACATGAGTTCCACCTTCTCTTCCCCAGCCCCAGCCTGAGGCCGGGAAGAGGGAGCTGGGGCAAACAGAGAGCCCAAAGGCGGGTCCGATTTTGAAGAGTCAATTTCCTTTGAAGAGGCATCACCCACCCGGAGGTGGCATCACCTGCCCAGGAAGTATCACCTGTGCCTAGAGGAGGCATCACCCGCCTAGAGGAGGTATCACCACCCAGAGGAGGCATCACCCACCTAGAGGAGGTATCACCACCCAGAGGAGGCATCACCCACCCAGGAGGTGGCATCACCCGTGCCCAGAGGAGGCATCACGCACCCAGAGGAGGCATCACCCGCCCAGGAGGTGGCATCACCTGTGCCCAGAGGAGGCATTGCCGCCAGCCCAGGAGGCATCACGCACCCAGAGGAGGCATCACCCGCCCAGGAGGTGGCATCACCTGTGCCAGAGGAGGCATCACTACCAGCCCAAGAGGCATCACCACCCACCTAGGAGGCATCACCCCCGAGAGGAGGCATCACCTGTGCCCAGGAGGCATCACCCGCCCAGAGGAGGCGCCCCAAGTTGGCAGGGTGGTGGGGGCTGGGCCTCTCAGTAAATGGTCCAGAGCTTCCCCTGGCAGATCAACTGTTTCTTGGGGACTTAAAGAAGAATTGGGGTACTGGGACTCCCACTTAGTGACCCCGGAGCCTGAGGTGGCCCACGGAGGAGTGCCCAAGCCCTCAGCAGCCAGACCAGCTCCACACGCAGCATAATTGCTGGTGATTAAGTAATTGCCAGACTTTGTCCAATAAAAGTCAGCACGTGACCGTGCCCAGACTCTGGGCCATCTCCAGAAGACAATGGCCTAGTGTTCTGTCCCCTGCGCGGCTGCAGAAGGCAGGGGCTCTGCCCTCGACAAAGCAACAGGTCCGCAGGGGTGGTACTCACACGCAGGCCTCCGTGCCATTGGCCGCTTCACACTTCCCGCCATTCAGGCAGGTCTCACCGGGCTGGGAGCATCGCGGGCCTAGGCAGGGGCAGGAGAAGAGAGGTCAGTCTCACCCGCACCACCACCACCGAAGGCCCTGGTTACCCTGGGGGCGGGGACCTGCACCCAGCCAAGGGGCATCGTCCGCCCCCTACCCCGGACGCACTCTGCTCAGTATCATGGGTTGCTGGGGCACGGGTCCGCAGGAAGCCCCTCCATGAAACCAAAGGGGCGTCAACATTCTGCCCAGAGTTCTGTAGTCAGAAATGGGGGGAAGGGGAGCAGCAGGGAACACGTCCTGCTTGAAGCAGGGTGGGGTGGCCTGATGTGCCGCCTGGACGCAGTGGGGGAAAAGCAGAGACAAAGTGGGCTACTCTCCAAAGCGTTGCCCCCCACCCTGGAGGCTCACTGAGGAGTCTGGCAGGGCAGGGCCCCCCATCCAGCCGCCGAGATTGCCTCTGTTCAAACCCGTTCTGCAAGGGGGCAGAGCTGGACGGGGGGAGGGGGGGTGGCCACACTCAGCTCCCGCCCGTGGGAAAATGCGACAGCTGCTCGCCCGCTACCCCGCCCGCCAACAAAGCGCCGGCCTCCGCCTCAGAATCAGAGCGGCCCATTGTGGAGTCGGGGCCGCCTCCAGGGGCACCGGGACAGCACCCTGGGGACGCGGCCCCGCCTCCGCCGACACCCAATACCTGCCTCCGCGGGCGCGCATCTCCAGGGCAGCCCCCATACACCCACAGGAGGGGGATGAAGGTCCCCCATTCGGAAGGAATTCGACCCCATCTCGAGAAGGGATCAATTACTCAAGCCCCTCCCTCCCCATCTTACCGGGGCTGAGAAACGGGGGAGGGGGGTGTGACACAGAGCCGCACTTTCTGGAAGAGGACAGATAATTCTCGCCTCCAACTCTCGGAGAAAGAGTGGATTAATCACTCGATTCCCCAGAGACCCCGCTCGCTGTGCGGCGGGGAGAAATGTAAGAGCCCCCCACCCGCGTCCCGCTCTCCGCCCCCAAGCTTTCCAAACTTCAACTCCGCAAAGCAAAAGGAAAGTTCAGTCCCCCCGGGCGCGGCGGCTTCTTACGCAACCCCTCCCCCAAACTGAGAGCCGGGCTGGGGGGCACCGGCGGGCGGGGCGACCGGGAGCCCGGGGACCCAGCCCGGCCGCGCGGGTCAGTGAAGGCGAACGCGGCGCCGCAGAGCCCACACTCCGCGCCCCAACATCCGCCCCGGCGTGGGCCAGAGGCGAAGAAGAAAGAAGATAAATGGCCCGGAGAAGCAACAGGAAACCAAAACCGACTCTATTCAAATCGAAAAATAGTAGGCAGCCCGCCCGCCCGGCCGACCGGCGGCAAGCCCCACGCGCGGCGGGTGAAGGGCGGGCCCGGAGTAGGGCCTCCGGGGCCCCAGCACCCCACACCGGCCTCCTAACTCGGCTCCAGGCACGGGCGGCGCGAGTCCGCCTCCACGGGGGGATCGAGGGGGAAGGTCGGTCCTCCCTGATCCCGGGACTCCAGAACCCCACGCCCCGGGCCGCCCGCTTTTCCCTCTCCATGCTGGCCTCCCCGCCGCCCGCTCCCAGCCGTGGGGCGCGCGCGCCGGGCGCCGCCAAAGTTTCCAAAGGGCGCGGAAAGTGGGGGCTCGCGGGTGGGTGGGCGCCTACCTCGTGCGGCGAGCGCGGGCAGCAGCGCCAGGCAGAGCAGGGGCGCCAGGAGCGGCGGCATGCCTCCCCACCGGCTGCCCTCTGCGCCCGGGCGGCGGCCTCCTGCGCTGGCCGGCGGGGCTGGGACGCACACGCGCGGCGTACGGTCCCGGGGCGGCGGCGGACGGTCCCGCCCTCTCTTCCCCGGCTGGCTGGCGGCGCTGTGCTCTCGCAGGCCCCCGGGCCCGGCTCCGCGCCCGGCTCGTTCCTTCGCTGCGCTCGCGCCCGCGCCCGCGCCCCGCGCCCCGCGCCCTTGCGCTCCCTCCCGCGGCCGAGGCACTAGTGAN | benign | 155,996 |
Clinical impact (benign or pathogenic) of the variant at chromosome 9, location 137087116, gene MAN1B1: what disease(s) if pathogenic? | benign | TTTTTTGAGACTGGATCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCATGGCTCACTGCAGCCTCGACCTCCTGGGGCTTAGGTGGTCTTCCCACCTCAGCCTCCAGAGTAGCTGGGACCACAGGTGCACACCACCACACTGGACTCATTTTTTTATTTTTTGTAGAGACAGGGGTTTCACCATGTTGCCCAGGTTGGACTCCTGAGCTCAGGGGATCTGCCCACCTTGGCCTCCAAAAGTGCTGGGATTACTACAGGCATGAGTCACTGTGCCCCGCCCACGGGAAATTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCCATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGGAATTCTCCTGCCTAAGCCTCCCGTGTAGCTGGGACTACAGGTGCCTGCCACCAACCATGCCCTGCTAATTTTTTTGTGTTTTTTGTAGAGACGGGTGTCTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTCCTGGGATTACAGAAGCCACCGCGCCTGGCCCCAAGGGGAATCTTTTAAAAAAGAGAAGTTCCCATAAACTGCTTTGAAACCATAAAGACCAAAGGTTAGAAGGGTTTGCCGCAGGCGCTCCGTTGCTAATGTTTTTGTGAGGGCTTCTTCAGGGCCTCTTGTTAGAGTGTGACATAAACGACTTCATTTGGGTACCAGCAAGTGTCACAGGGGGCAGAGACCAGCAGAAACCTAAAGATGACCCCTAGAAGAGCAGGAGGCCAGGGGAACAGAGTTAGACGAGCCACGTGCTAAGCAGGACGTCGCTGCCGGGGGAGCTCTCCAGACACGCAGAAATGCCACAGTCAGGACCGTGGGACGCAGCGGATTCGCCCAAGGGCAGGAGCAGCCTGGCCAGGAGAGAATGAAGGAGGGGCCGGGCGTGAGGTTCGGCTGGGGAGAACCCAGGCAGGGAGGGCCTCGGGCGGCCACGGACGCCGCTTTGCCATTTTGGGCGTTTCTGGGGAGGACAACGCGTGCAGGAAGCGCAGTCATCTCAAGCTGACCTCCAAGGTTACCGAGTTCGAGGGCTGGGAGCCGGGTCTGAAAGCCCCGACCCGCCTATGGCGCGGGGACTGTGGGTCCAGCCGGCCGATTGGCCGCCTCGCTCGGCGCCGGTCCAGGCGCAGCGCTCGGGCCCCGGGGACCGTGAGATGCGGCGCAGCCAGCTTAGCTCGGGGTAGCAGCCACCCCAGCCCGGGTGCCGCCCGGCCTGGTCCGCGACTTCGGGAGGGTCCGGTCCTTCCCCCGGCCCCCACGCCTGGGTGAGGCCCTGGGCTTCTTGCCGGTGACCACGCGGCCAGGGTGGGCACCAGCCCAGGACGGCGCCCAAGGGCAGCCCAGCTCCATCCCCGCGCCGCGGGTTCCGGAACCGAGGCGCGGGACGCTGGGACTCTCTGCCAACATGGCGGCCCCGCCCGGGCGCCTCCCCGGGTCCCTAGTGTCTGCGTCTCCCGTGAGGGCGTGGGCAAAGTCGGTGCAGCCAGACGACAGGAGGCGAGAGAAGCCCAGCTCCAGGCCCATGAGGCGAACCACGTGGGAGCCCCAGACAGCGACCACGCCCCAGGCGAACCAAGGCCCGCCCCGTTGCTACAGCTACGCTCGTAGCACACCTGGGCAGGCGCTGCCGGACGCATGCGCAATGAACCTGAGGGCAGGGCGGAGTCGCAGCAGTTGTCTGACGCAGTCGCCGTAGGACGCAGCCCCGTACGCTGGAGCGCAGCGGAGACAGGCGCGGGCGCACTGGCCGCATAGAGACGCAGCGCACGCGCAGTCGCGTATCCGTGTGATGGGCGGGCTGTTGACGGCGCTGCGATGGCTGCCTGCGAGGGCAGGAGAAGCGGAGCTCTCGGTTCCTCTCAGTCGGACTTCCTGACGCCGCCAGTGGGCGGGGCCCCTTGGGCCGTCGCCACCACTGTAGTCATGTACCCACCGCCGCCGCCGCCGCCTCATCGGGACTTCATCTCGGTGACGCTGAGCTTTGGCGAGAACTATGACAACAGCAAGAGTTGGCGGCGGCGCTCGTGCTGGAGGGTGAGGGTCGCGCCGGGCTGACTGGGGCCCGGGGCTGCCGTGCCCGCCGCCCTCCCAGACTGCGGCTCCGAGCGGGACCTGGGCGGGCGGACTCGACTCCCCAGGCGCCGCCCTCTCCACCCCTTCCCCGCAAAAAGGGGCAAATGTGCGTTCCTGGTTGGGGCAGCCGTGGGCGGCTCGCCTGCAGCGGTCTCAGCGGCCCAAATTCTGCGGGGCGGTGGTGGGAAGAGGGCTCAGAGCCCCAGCAGGTTTTCTGGGCTTCGTTCGCTTTTCTGCAAGGTCCTGGCCCAGGCGCCTGCCCCTCTTGGAGCGGAAACCGGAGGTTCCCCGTGGTGTATGCTCCCCTCGGTACAGTGAGAAATGAGCCCCTCTTGATTGGCTCCTGGTCTGTTCGTGGTGGTCTCAGGCCGAAGGGCATTGATAACCACATGCGGACTGTGCATCGCCTGGGCGGTGCCTGGGCTACATCTGTGGGAGTCGCAGGAGTCTTTCTCCACTGTTGATGAAATGTGACAGAAATGTTTCTGCTTTTTTCTTATCCTCGTCTCATCTGCACCACTGTATTAACGACATCTGTAGTATTGTCCCAGCAATGTTCCTACTCCCTGCTGAGAGGGAACTTCTCCCCATTCAAAATAAATAGAGCTGGCCGGGCACGGTGGCTCATCCCGCGTTCCACCCACTACACTCCAGCCTAGGTGTAACAGAATGAGACCCTGTTTCCAAAAAAAAAAAGAAATAGAGCTGAACACTGGATCTTCCAGAAGAATTCCTTATTGTCCTCACAGTTTGTGACAGTTGAGACGTTCCGTGTGATATATTCAGTAAGAAATGTCATTCTCTGTACCTCCCTTAGAAATGGAAGCAACTGTCGAGATTGCAGCGGAATATGATTCTCTTCCTCCTTGCCTTTCTGCTTTTCTGTGGACTCCTCTTCTACATCAACTTGGCTGACCATTGGAAAGGTATCAGAAACACGTGTACTTGAAAACGATATCTGTGTTGAGGGTTGATTGGGCAGAAGCAATCTTGCATTCTACCTTAAACAGCTCCAGGAGGCATATATGGCAACGAATTGGCAAGAAATCAAGATAAAGAGAAAGGTAGAGCTGTATGTAACCACCTGGCTAGAACACAGATGTTAATTTGATGCTGTCTGACTACTTTCTAGGTCTCTGGTGTAAGTACTGATATGTCCAGCCTCCCTTATAGAGTAAGTCAGCTGGTGGGCTTGAACACTCAGCCTAAATAACCACACAAATTTCGTAGCACTCATTAGCGTGTGTTTGGAAAAGACCAGGCAGAGTTCTGGTGAGGATGTGGAGAATCTCTTCTCACTTGGTCTAAGATGCTTCTCTTTGGAGCAAAGCTAAAGGGCTCCTGCCCACCTGCCACATGCTGAACGTCCCTGAATGGAAAATAGGAAGGCAAAAGATGTGGGGTTCTGTGTTATGGACAAGGACACAAACTGCCAAGTGTTTTGAAAAAGATTTCATTCCCTTGGGACATTGTTGAATTCATTTCAGTGACTATCAGGTATCATAATGTTGATTTGTAATGGATAGTGCCTGCCAAGTGTTTTTATAAAGCAGTTTAAATCTCTTGTAGGCCTTGTGGCATATTTGAAATAAAATAGCTTCTGTTATTCAGCTCTGGCTTTCAGGCTAGAGGAAGAGCAGAAGATGAGGCCAGAAATTGCTGGGTTAAAACCAGCAAATCCACCCGTCTTACCAGCTCCTCAGAAGGCGGACACCGACCCTGAGAACTTACCTGAGATTTCGTCACAGGTACTTTGAGCAAATGGTGTGGGGTTATAACTGGGGTTCAATCCAGAGGCATTTCAAACCACTGAAGATTGAGAAGAATTATTTTCCTTTACCATTTATTACCACGTGTTTACCTCTCTCTCGTTTTGGACTGGTCGGATAATACTTGGGGAAAGAGA | TTTTTTGAGACTGGATCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCATGGCTCACTGCAGCCTCGACCTCCTGGGGCTTAGGTGGTCTTCCCACCTCAGCCTCCAGAGTAGCTGGGACCACAGGTGCACACCACCACACTGGACTCATTTTTTTATTTTTTGTAGAGACAGGGGTTTCACCATGTTGCCCAGGTTGGACTCCTGAGCTCAGGGGATCTGCCCACCTTGGCCTCCAAAAGTGCTGGGATTACTACAGGCATGAGTCACTGTGCCCCGCCCACGGGAAATTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCCATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGGAATTCTCCTGCCTAAGCCTCCCGTGTAGCTGGGACTACAGGTGCCTGCCACCAACCATGCCCTGCTAATTTTTTTGTGTTTTTTGTAGAGACGGGTGTCTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTCCTGGGATTACAGAAGCCACCGCGCCTGGCCCCAAGGGGAATCTTTTAAAAAAGAGAAGTTCCCATAAACTGCTTTGAAACCATAAAGACCAAAGGTTAGAAGGGTTTGCCGCAGGCGCTCCGTTGCTAATGTTTTTGTGAGGGCTTCTTCAGGGCCTCTTGTTAGAGTGTGACATAAACGACTTCATTTGGGTACCAGCAAGTGTCACAGGGGGCAGAGACCAGCAGAAACCTAAAGATGACCCCTAGAAGAGCAGGAGGCCAGGGGAACAGAGTTAGACGAGCCACGTGCTAAGCAGGACGTCGCTGCCGGGGGAGCTCTCCAGACACGCAGAAATGCCACAGTCAGGACCGTGGGACGCAGCGGATTCGCCCAAGGGCAGGAGCAGCCTGGCCAGGAGAGAATGAAGGAGGGGCCGGGCGTGAGGTTCGGCTGGGGAGAACCCAGGCAGGGAGGGCCTCGGGCGGCCACGGACGCCGCTTTGCCATTTTGGGCGTTTCTGGGGAGGACAACGCGTGCAGGAAGCGCAGTCATCTCAAGCTGACCTCCAAGGTTACCGAGTTCGAGGGCTGGGAGCCGGGTCTGAAAGCCCCGACCCGCCTATGGCGCGGGGACTGTGGGTCCAGCCGGCCGATTGGCCGCCTCGCTCGGCGCCGGTCCAGGCGCAGCGCTCGGGCCCCGGGGACCGTGAGATGCGGCGCAGCCAGCTTAGCTCGGGGTAGCAGCCACCCCAGCCCGGGTGCCGCCCGGCCTGGTCCGCGACTTCGGGAGGGTCCGGTCCTTCCCCCGGCCCCCACGCCTGGGTGAGGCCCTGGGCTTCTTGCCGGTGACCACGCGGCCAGGGTGGGCACCAGCCCAGGACGGCGCCCAAGGGCAGCCCAGCTCCATCCCCGCGCCGCGGGTTCCGGAACCGAGGCGCGGGACGCTGGGACTCTCTGCCAACATGGCGGCCCCGCCCGGGCGCCTCCCCGGGTCCCTAGTGTCTGCGTCTCCCGTGAGGGCGTGGGCAAAGTCGGTGCAGCCAGACGACAGGAGGCGAGAGAAGCCCAGCTCCAGGCCCATGAGGCGAACCACGTGGGAGCCCCAGACAGCGACCACGCCCCAGGCGAACCAAGGCCCGCCCCGTTGCTACAGCTACGCTCGTAGCACACCTGGGCAGGCGCTGCCGGACGCATGCGCAATGAACCTGAGGGCAGGGCGGAGTCGCAGCAGTTGTCTGACGCAGTCGCCGTAGGACGCAGCCCCGTACGCTGGAGCGCAGCGGAGACAGGCGCGGGCGCACTGGCCGCATAGAGACGCAGCGCACGCGCAGTCGCGTATCCGTGTGATGGGCGGGCTGTTGACGGCGCTGCGATGGCTGCCTGCGAGGGCAGGAGAAGCGGAGCTCTCGGTTCCTCTCAGTCGGACTTCCTGACGCCGCCAGTGGGCGGGGCCCCTTGGGCCGTCGCCACCACTGTAGTCATGTACCCACCGCCGCCGCCGCCGCCGCCTCATCGGGACTTCATCTCGGTGACGCTGAGCTTTGGCGAGAACTATGACAACAGCAAGAGTTGGCGGCGGCGCTCGTGCTGGAGGGTGAGGGTCGCGCCGGGCTGACTGGGGCCCGGGGCTGCCGTGCCCGCCGCCCTCCCAGACTGCGGCTCCGAGCGGGACCTGGGCGGGCGGACTCGACTCCCCAGGCGCCGCCCTCTCCACCCCTTCCCCGCAAAAAGGGGCAAATGTGCGTTCCTGGTTGGGGCAGCCGTGGGCGGCTCGCCTGCAGCGGTCTCAGCGGCCCAAATTCTGCGGGGCGGTGGTGGGAAGAGGGCTCAGAGCCCCAGCAGGTTTTCTGGGCTTCGTTCGCTTTTCTGCAAGGTCCTGGCCCAGGCGCCTGCCCCTCTTGGAGCGGAAACCGGAGGTTCCCCGTGGTGTATGCTCCCCTCGGTACAGTGAGAAATGAGCCCCTCTTGATTGGCTCCTGGTCTGTTCGTGGTGGTCTCAGGCCGAAGGGCATTGATAACCACATGCGGACTGTGCATCGCCTGGGCGGTGCCTGGGCTACATCTGTGGGAGTCGCAGGAGTCTTTCTCCACTGTTGATGAAATGTGACAGAAATGTTTCTGCTTTTTTCTTATCCTCGTCTCATCTGCACCACTGTATTAACGACATCTGTAGTATTGTCCCAGCAATGTTCCTACTCCCTGCTGAGAGGGAACTTCTCCCCATTCAAAATAAATAGAGCTGGCCGGGCACGGTGGCTCATCCCGCGTTCCACCCACTACACTCCAGCCTAGGTGTAACAGAATGAGACCCTGTTTCCAAAAAAAAAAAGAAATAGAGCTGAACACTGGATCTTCCAGAAGAATTCCTTATTGTCCTCACAGTTTGTGACAGTTGAGACGTTCCGTGTGATATATTCAGTAAGAAATGTCATTCTCTGTACCTCCCTTAGAAATGGAAGCAACTGTCGAGATTGCAGCGGAATATGATTCTCTTCCTCCTTGCCTTTCTGCTTTTCTGTGGACTCCTCTTCTACATCAACTTGGCTGACCATTGGAAAGGTATCAGAAACACGTGTACTTGAAAACGATATCTGTGTTGAGGGTTGATTGGGCAGAAGCAATCTTGCATTCTACCTTAAACAGCTCCAGGAGGCATATATGGCAACGAATTGGCAAGAAATCAAGATAAAGAGAAAGGTAGAGCTGTATGTAACCACCTGGCTAGAACACAGATGTTAATTTGATGCTGTCTGACTACTTTCTAGGTCTCTGGTGTAAGTACTGATATGTCCAGCCTCCCTTATAGAGTAAGTCAGCTGGTGGGCTTGAACACTCAGCCTAAATAACCACACAAATTTCGTAGCACTCATTAGCGTGTGTTTGGAAAAGACCAGGCAGAGTTCTGGTGAGGATGTGGAGAATCTCTTCTCACTTGGTCTAAGATGCTTCTCTTTGGAGCAAAGCTAAAGGGCTCCTGCCCACCTGCCACATGCTGAACGTCCCTGAATGGAAAATAGGAAGGCAAAAGATGTGGGGTTCTGTGTTATGGACAAGGACACAAACTGCCAAGTGTTTTGAAAAAGATTTCATTCCCTTGGGACATTGTTGAATTCATTTCAGTGACTATCAGGTATCATAATGTTGATTTGTAATGGATAGTGCCTGCCAAGTGTTTTTATAAAGCAGTTTAAATCTCTTGTAGGCCTTGTGGCATATTTGAAATAAAATAGCTTCTGTTATTCAGCTCTGGCTTTCAGGCTAGAGGAAGAGCAGAAGATGAGGCCAGAAATTGCTGGGTTAAAACCAGCAAATCCACCCGTCTTACCAGCTCCTCAGAAGGCGGACACCGACCCTGAGAACTTACCTGAGATTTCGTCACAGGTACTTTGAGCAAATGGTGTGGGGTTATAACTGGGGTTCAATCCAGAGGCATTTCAAACCACTGAAGATTGAGAAGAATTATTTTCCTTTACCATTTATTACCACGTGTTTACCTCTCTCTCGTTTTGGACTGGTCGGATAATACTTGGGGAAAG | benign | 156,118 |
A mutation at chromosome position 137099689 on chromosome 9 in gene MAN1B1 (mannosidase alpha class 1B member 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | GGCTCTCAGGCACGGGAGCTCAGGACTGAACTGTGTGTTTCCTGCCACTCAGCAGCCTGCACCTCAGGATGATGGGGCCGCTTTGGGTGCAGGGCTGTGCCTTGGCCGTGGGTATGGAGCGTGGGGGTGGGAAACATGGAGCCACAAATGTTTGACGGCAGCTGACACCCTTCCTTCTCCCCCGAAGCTGGAGGGGAGCGGTGATCGAGCCTGAGCAGGGCACCGAGCTCCCTTCAAGAAGAGCAGAAGTGCCCACCAAGCCTCCCCTGCCACCGGCCAGGACACAGGGCACACCAGGTGAGGCCACACCTGCACCCCTTCCTCCCCGGGCGCTCAGGGGCTGGTGGCTGATGGGTGCAGGCTTCGTCTCAGCCATGGTGGGTGGCGCCCCCGCCCTGGTGTGCACCTTGCCCTTCAGCATCCCCCTGTTGTCTGAGTCCTCACAGGCTCTGCAACCTTGGTGACACCATGTGGCTCTTGGCCTGCTGTCCCTGAGCACATGGCTGCAGAAGAAGGTGTGTCTGAGAGGTTTGTGTCTGGGCCAGGCTGCCCCACGGGATCCCTGGAGACTGCTGCCCGTGCTGTGTCCCCTGTCTCGGCCTGGCCAGTCCCAGGCAGCTCTGGGGGCCACTTCATTCTCAGCACCGTTTGTTGGGGGCCTCCCAGGTGCGGGCCTTCGGCCAAGCTCAGTGCATGACCTGAGGCCTCTTTCAACCTCATGACACCCTCTGACACGATAAGCCACTCACCCTCCCGTTCTCCAGACTGAAAAGCAGGGCTGAGGACAGCCACCCCCAGAGTCGTTTGCTTGTCTGTGGGGGCTCATGGCAGGTCGCTGAGTCTGGAGCCCTGCTCTCATCATGCCCCCCAGGTGTCTCTGAGGTGGGGAGGGAGCCCAGAGCCAGGACTCCCAGCCCCGGGCCTGTGAGGGATGTGTAGCAATCTCTGCGGCATCAATGAGGGCAGAGGCAGAGGCAGAGGCATAGACATGCCATGAGCACAAGGAGGCCTCAGAACCTTTCCTGAGAGGACGTGTGGTTTGGTGCCGTTACACACGTGTCAATCCACACATTAGTCAATGTTGGCCGGGCGTGGTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGAGGTAGAAGGATCTCTTGAGTCCAGGAGTTCAAGACCAGCCTGGACAACACAGTGAGGCCCCATCTCTACAAAAAAAAAAGAAATTTATATATATGTGTATATTTGAGACAGAGTCTTGCTTTGTCACTTCACTGCAACGTCTGCCTTCTGGGTTCAAGCAAGTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTATAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCGATGTTGGCGAGGCTGGTCTCAAACTTCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAGAGTACTGGGATTACAGGCGGGAGCCACCGTGCCCAGCCAAAAAAATTTAAAAAAAGGGAACGAAGGGACTGTAGCGCGTGTGCACAGTGCGATTCCCGTGGAGCACCTGAAGCCCACGTGGCAGAAGGAGCGTGTTTGAGTCGAGGATGTTCATCGCGAGGTCTGCACCCGTCCGTGTTTCACATTCTGAGTTGGCACCACACTCACCCACGTCTCCACAGGCTGTGCTCACTGTGCTGTCCCAGCGCCCTTGGGGCAGCCACCCTTGTCCCTTTGGCCAGAGGCCACCGAGGCCCAAGGAGGGTGTGCCTGCCCAGGCGCCAGGTGGAGGTGCATGGGCCCCAGTCAGGTGGTCGGGTGACAGGTGCCATCCTGTGCAGTCTCCAGAGGTCTCAGGCCCTTGGCAGGCTGTGTTCTCCCTGGGGGCTGCTGCAGCCTCTGTGGCCCTGGCCTTTGCTGTGCCCACCACCGCCCTTCCCGTCGTCCCAAACCCACCGTCATCTTTGCCCCATGGGGGTCACAGCAGTGCTCTGCCTGAGGGTGTCCATCTGTGCCGACGCCAGGACCACGTCCGCCATGGCCTGTGCTCTCTCCCCCCTACTAGTGCATCTGAACTATCGCCAGAAGGGCGTGATTGACGTCTTCCTGCATGCATGGAAAGGATACCGCAAGTTTGCATGGGGCCATGACGAGCTGAAGCCTGTGTCCAGGTCCTTCAGTGAGTGGTTTGGCCTCGGTCTCACACTGATCGACGCGCTGGACACCATGTGGATCTTGGGTCTGAGGAAAGGTACCTGGTGCTTTCTGGGGAGGGGCTGAGCCCTCCGTGTGGGCCTCGTGTGCTGAGGCAGAGTGTGGGTTGCACACGGGGTGAAAGCTGCTGTTTGCATCTGACCATGGGTTTTCCCTTCTCCTGGGTGCGGGAGTGGACGTGTTGGCTGTGGTCAGTTCCTGTTCTTGTCCAGCCACCCAAGGCACACACAGGGCCGCTGTCCCCAGACCTCTGCAGGAGTTGAGTGTGGACTCTTTGGGGGACGTCCAAGGGACATTCCCAGGCTGTGCTTCTCTTGCAGCTGGGGGTGGTGGGATGAGTGACTGTGGGGCCCCGCTGGTCCCAGATCTCAGCAGCATCCTTCATAGACCAGCACATCCACTTTGAATTGGGAGTATGTGTCTTCGGTTATTTAAGCGATAATTTAAACATTTGCCTAATTTTTTGAATAGGTTGAAGACCACCAGTAAACGACGTGTGTAATTTTTTTGGGTCGTAGCCTTTGGTTGTGACCCATTGGTGGCCATAGCAACTGCACTGCTGACTCCGTTTTATTAACAAATGTTGACGACTTCAAGATTTACCCCCTTGAGATAGGAGGTGATATTGAAGCCCTGCAGGGGAACGATAACGCCCCAGACATGGGTTTGGTTTTTTGTTTTTGTTTTTTTGTTTTTGAGATGGAGTCTTTCACTGTCTCCTGGGCTGGAGTGCAATGGCGCAATCTCGGCTCATTGCAACCTTGGCCTCCTGGTTTCAAACGTGGGTTTTTTGGAGACAGAGTCTAGTGGTGTGGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAGCCTTCGCCTCCCGGGTTCAAGCTATTCTCATGCCTCACCCTCCCCAGTAGTTGGGACCACAGGCATGCGCCACCATACTCAGCTAATTTTTGTGTTTTTAGTAGAGATGGGGTTTTCCCATGTTGTCCAGGCTGGTCTCTAACTCCTGGGCTCAAGCAATCCACTTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCAAATGTATTTTGAAGATGGATAGATAATAGGAAAACGTTGGAGCCATCCATTTGTCTCTGCATCCTTTACTGTTTTATGTCATAGAATTTGAGGAAGCCAGGAAGTGGGTGTCGAAGAAGTTACACTTTGAAAAGGACGTGGACGTCAACCTGTTTGAGAGCACGATCCGCATCCTGGGGGGGCTCCTGAGTGCCTACCACCTGTCTGGGGACAGCCTCTTCCTGAGGAAAGCTGTAAGTGTCTTGGGGTGTCCTGCAGGGAGATGGTGGACTCGCATTCAAGCAGTTACCCCTTTAGTGGACTTGTGGGGACGTGACTGTCTTCCTGTTTCCTCTTCAAATGCACTGGAGTCTGTTTCTGAGCTCATATTCGTGAGCTGATGAAGCCACTTTGATCACCACTGGCCTTGTAGAGACATTCACTCAGTGCAGAGTGATGCCCGTTTCCTTGCTGCTGTGTTGACCCCAGAGAGCCTTCAGTGTCTCCACTGAACTGCATGAAAGGGTGTAGACGAGGCCTCTGGGTGACCTGAACGTTGGTTCTCTACTCTGCTCATATACCAGGAGGATTTTGGAAATCGGCTAATGCCTGCCTTCAGAACACCATCCAAGATTCCTTACTCGGATGTGAACATCGGTACTGGAGTTGCCCACCCGCCACGGTGGACCTCCGACAGCACTGTGGCCGAGGTGACCAGCATTCAGCTGGAGTTCCGGGAGCTCTCCCGTCTCACAGGGGATAAGAAGTTTCAGGTAAGGGGGCAGGCTTTCTGGCTGGATGCGCCTCCCCTGGAGCTACCTTTTGCTCATCACAGCA | GGCTCTCAGGCACGGGAGCTCAGGACTGAACTGTGTGTTTCCTGCCACTCAGCAGCCTGCACCTCAGGATGATGGGGCCGCTTTGGGTGCAGGGCTGTGCCTTGGCCGTGGGTATGGAGCGTGGGGGTGGGAAACATGGAGCCACAAATGTTTGACGGCAGCTGACACCCTTCCTTCTCCCCCGAAGCTGGAGGGGAGCGGTGATCGAGCCTGAGCAGGGCACCGAGCTCCCTTCAAGAAGAGCAGAAGTGCCCACCAAGCCTCCCCTGCCACCGGCCAGGACACAGGGCACACCAGGTGAGGCCACACCTGCACCCCTTCCTCCCCGGGCGCTCAGGGGCTGGTGGCTGATGGGTGCAGGCTTCGTCTCAGCCATGGTGGGTGGCGCCCCCGCCCTGGTGTGCACCTTGCCCTTCAGCATCCCCCTGTTGTCTGAGTCCTCACAGGCTCTGCAACCTTGGTGACACCATGTGGCTCTTGGCCTGCTGTCCCTGAGCACATGGCTGCAGAAGAAGGTGTGTCTGAGAGGTTTGTGTCTGGGCCAGGCTGCCCCACGGGATCCCTGGAGACTGCTGCCCGTGCTGTGTCCCCTGTCTCGGCCTGGCCAGTCCCAGGCAGCTCTGGGGGCCACTTCATTCTCAGCACCGTTTGTTGGGGGCCTCCCAGGTGCGGGCCTTCGGCCAAGCTCAGTGCATGACCTGAGGCCTCTTTCAACCTCATGACACCCTCTGACACGATAAGCCACTCACCCTCCCGTTCTCCAGACTGAAAAGCAGGGCTGAGGACAGCCACCCCCAGAGTCGTTTGCTTGTCTGTGGGGGCTCATGGCAGGTCGCTGAGTCTGGAGCCCTGCTCTCATCATGCCCCCCAGGTGTCTCTGAGGTGGGGAGGGAGCCCAGAGCCAGGACTCCCAGCCCCGGGCCTGTGAGGGATGTGTAGCAATCTCTGCGGCATCAATGAGGGCAGAGGCAGAGGCAGAGGCATAGACATGCCATGAGCACAAGGAGGCCTCAGAACCTTTCCTGAGAGGACGTGTGGTTTGGTGCCGTTACACACGTGTCAATCCACACATTAGTCAATGTTGGCCGGGCGTGGTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGAGGTAGAAGGATCTCTTGAGTCCAGGAGTTCAAGACCAGCCTGGACAACACAGTGAGGCCCCATCTCTACAAAAAAAAAAGAAATTTATATATATGTGTATATTTGAGACAGAGTCTTGCTTTGTCACTTCACTGCAACGTCTGCCTTCTGGGTTCAAGCAAGTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTATAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCGATGTTGGCGAGGCTGGTCTCAAACTTCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAGAGTACTGGGATTACAGGCGGGAGCCACCGTGCCCAGCCAAAAAAATTTAAAAAAAGGGAACGAAGGGACTGTAGCGCGTGTGCACAGTGCGATTCCCGTGGAGCACCTGAAGCCCACGTGGCAGAAGGAGCGTGTTTGAGTCGAGGATGTTCATCGCGAGGTCTGCACCCGTCCGTGTTTCACATTCTGAGTTGGCACCACACTCACCCACGTCTCCACAGGCTGTGCTCACTGTGCTGTCCCAGCGCCCTTGGGGCAGCCACCCTTGTCCCTTTGGCCAGAGGCCACCGAGGCCCAAGGAGGGTGTGCCTGCCCAGGCGCCAGGTGGAGGTGCATGGGCCCCAGTCAGGTGGTCGGGTGACAGGTGCCATCCTGTGCAGTCTCCAGAGGTCTCAGGCCCTTGGCAGGCTGTGTTCTCCCTGGGGGCTGCTGCAGCCTCTGTGGCCCTGGCCTTTGCTGTGCCCACCACCGCCCTTCCCGTCGTCCCAAACCCACCGTCATCTTTGCCCCATGGGGGTCACAGCAGTGCTCTGCCTGAGGGTGTCCATCTGTGCCGACGCCAGGACCACGTCCGCCATGGCCTGTGCTCTCTCCCCCCACTAGTGCATCTGAACTATCGCCAGAAGGGCGTGATTGACGTCTTCCTGCATGCATGGAAAGGATACCGCAAGTTTGCATGGGGCCATGACGAGCTGAAGCCTGTGTCCAGGTCCTTCAGTGAGTGGTTTGGCCTCGGTCTCACACTGATCGACGCGCTGGACACCATGTGGATCTTGGGTCTGAGGAAAGGTACCTGGTGCTTTCTGGGGAGGGGCTGAGCCCTCCGTGTGGGCCTCGTGTGCTGAGGCAGAGTGTGGGTTGCACACGGGGTGAAAGCTGCTGTTTGCATCTGACCATGGGTTTTCCCTTCTCCTGGGTGCGGGAGTGGACGTGTTGGCTGTGGTCAGTTCCTGTTCTTGTCCAGCCACCCAAGGCACACACAGGGCCGCTGTCCCCAGACCTCTGCAGGAGTTGAGTGTGGACTCTTTGGGGGACGTCCAAGGGACATTCCCAGGCTGTGCTTCTCTTGCAGCTGGGGGTGGTGGGATGAGTGACTGTGGGGCCCCGCTGGTCCCAGATCTCAGCAGCATCCTTCATAGACCAGCACATCCACTTTGAATTGGGAGTATGTGTCTTCGGTTATTTAAGCGATAATTTAAACATTTGCCTAATTTTTTGAATAGGTTGAAGACCACCAGTAAACGACGTGTGTAATTTTTTTGGGTCGTAGCCTTTGGTTGTGACCCATTGGTGGCCATAGCAACTGCACTGCTGACTCCGTTTTATTAACAAATGTTGACGACTTCAAGATTTACCCCCTTGAGATAGGAGGTGATATTGAAGCCCTGCAGGGGAACGATAACGCCCCAGACATGGGTTTGGTTTTTTGTTTTTGTTTTTTTGTTTTTGAGATGGAGTCTTTCACTGTCTCCTGGGCTGGAGTGCAATGGCGCAATCTCGGCTCATTGCAACCTTGGCCTCCTGGTTTCAAACGTGGGTTTTTTGGAGACAGAGTCTAGTGGTGTGGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAGCCTTCGCCTCCCGGGTTCAAGCTATTCTCATGCCTCACCCTCCCCAGTAGTTGGGACCACAGGCATGCGCCACCATACTCAGCTAATTTTTGTGTTTTTAGTAGAGATGGGGTTTTCCCATGTTGTCCAGGCTGGTCTCTAACTCCTGGGCTCAAGCAATCCACTTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCAAATGTATTTTGAAGATGGATAGATAATAGGAAAACGTTGGAGCCATCCATTTGTCTCTGCATCCTTTACTGTTTTATGTCATAGAATTTGAGGAAGCCAGGAAGTGGGTGTCGAAGAAGTTACACTTTGAAAAGGACGTGGACGTCAACCTGTTTGAGAGCACGATCCGCATCCTGGGGGGGCTCCTGAGTGCCTACCACCTGTCTGGGGACAGCCTCTTCCTGAGGAAAGCTGTAAGTGTCTTGGGGTGTCCTGCAGGGAGATGGTGGACTCGCATTCAAGCAGTTACCCCTTTAGTGGACTTGTGGGGACGTGACTGTCTTCCTGTTTCCTCTTCAAATGCACTGGAGTCTGTTTCTGAGCTCATATTCGTGAGCTGATGAAGCCACTTTGATCACCACTGGCCTTGTAGAGACATTCACTCAGTGCAGAGTGATGCCCGTTTCCTTGCTGCTGTGTTGACCCCAGAGAGCCTTCAGTGTCTCCACTGAACTGCATGAAAGGGTGTAGACGAGGCCTCTGGGTGACCTGAACGTTGGTTCTCTACTCTGCTCATATACCAGGAGGATTTTGGAAATCGGCTAATGCCTGCCTTCAGAACACCATCCAAGATTCCTTACTCGGATGTGAACATCGGTACTGGAGTTGCCCACCCGCCACGGTGGACCTCCGACAGCACTGTGGCCGAGGTGACCAGCATTCAGCTGGAGTTCCGGGAGCTCTCCCGTCTCACAGGGGATAAGAAGTTTCAGGTAAGGGGGCAGGCTTTCTGGCTGGATGCGCCTCCCCTGGAGCTACCTTTTGCTCATCACAGCAN | benign | 156,140 |
A genetic alteration at chromosome 9, position 137106248, in gene MAN1B1 (mannosidase alpha class 1B member 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Rafiq_syndrome'] | TCCTCGTGTGAGTGCAGTCACACACGATTTGTCCTTTTTTTGTTTTCGTTTGTTGAGACAGAGTCTCATTCTGTCACTCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCCACTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCCAGCTAATTTTTGTGTTTTTATTAGAGACAGGGTTTCACCAAGTTGGCCAGACTGGTCTCAAACTCCTGACCTCGTGATCCACCCGCCTGGGCCTCCCACAGTGCTGGGATGACAGGCGTGAGCTACCACACCCGGCTGATTTATCCTTTTATTTGGGCTCCTTTCACTCAGCGTCTTTAAGCTTCATACGCGAAAGATGCTTCAGAGATTCCTTTTTCAGGCTGAATATCTGCTGCGTGGCTAGGCCACTTTTTGTTTAATCCTCTCTCCTCTGGTGGACACCAGGACTGTGCTGTTTTGGTTGCTGTAAGCGCGGGTGCACACGCCTGCCTGAGGCTGTGTTTTGGCCGTTGTGAGTGTGGGTGCACACACCTGCCTGAGGCTCTGCTTTGTTGTGAGTGCGGGTGCACACACCTGCCTGAGGCTGTGTTTTGGGTGTTGTGAGTGTGGGTGCACACACCTGCCTGAGGCTGTGTTTTGGGTGTTGTGAGTGTGGGTGCACACACCTGCCTGAGGCTGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACACCCACCACCACACCCCGTTATTTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGATGGTCTGGAACTGACCTCAGGTGATCCACCCACTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCTCTTTTTACTTTGTTAATGGTGTATTTTGATAGATAACAGATTGTCATTTTCATGAAGCACAGCTGGTCAGTTTATTGTTGCTCATGTATTTGGCCTCATGTTCGAGTCCCTGTTTTTAATCATGAGCTGGACACAGCCCTCTTTAGAGCAACTGTGACCACTTGTGGTGAGAAGTGCAGCCCACACCATCCACGTGAGGCTCCCACACGCCATCCACGTGAGGCTCCCATGCAGACATTTAGAAGGCGTTTTCACTGCAGCTCAGAAAATGGCCCCAGGCCCCCATGGGCACCCCCATGTCACCAGGGCCTCTGGTTGCTGCCGGTACACAGGGATAGGCAGCCAGGCCTCGAAGGTGCTGGGCATGGGTTTGGGTGTCTGCGTTGGGTAGAGACCCGGAGCGCCCTTGCTGGGCGTGCCCTAACATCCCGGTACCCTGTGCCCCTCTGTGGGCCAGGACGCCTGGTGCTGCCAGCTGGGCGTAAGCCCTGAGGAGCTGAGGGTGGCTGTGACTTGGAGGATGAGTAGGAGCTCACCAGGAGGGCGTGGAGCCGAGGCGTTTAATATCATCAGGAGCAACACTGGGCTCAGAAGGCAGGCACACTTGCCGTCCCTCCAGAGCCATGGCTGACGGCCAGGCCTGGTGGGCTCTCGTGAGGACAGTGCCTGTGGTTGTCAGATGCTGTCCCTTCGAGTAAGGGATGAGAGCCATCCTGAAGATGGGTCAGCTCTGTGGTGACCACCCGTTGGGAGCAGTGACATTCAGGTGCGTTGCACTGGTGGCTGTGTGGCTGTGTGGTACGGCCACCAGGAGCCATGTGGGCAAGGACAGCTGTGGGCTGGGCACAGAGCTCTCTCTGCTGGGAGTCAGTCGGTGCTGGGGCGAGGGGAGGCAGAGCTCACAGAGCCCCTCTACAGCTCACCCTGCAGCTCGGCCCTGGCCAGTAAACCCACCATCCCCCTTTCTGCCGCAGGAGGCAGTGGAGAAGGTGACACAGCACATCCACGGCCTGTCTGGGAAGAAGGATGGGCTGGTGCCCATGTTCATCAATACCCACAGTGGCCTCTTCACCCACCTGGGCGTATTCACGCTGGGCGCCAGGGCCGACAGCTACTATGAGTACCTGCTGAAGCAGTGGATCCAGGGCGGGAAGCAGGAGACACAGTGAGGCCCGGCCCGCTGCCCCCAGCTCCCGCGGCTCCCCCGTTCCCGCAGCCCCCCACTCCTGCTGCCCCCAGCTCCCACGGCCCCCGCTCCTGCTGCCCCCCGCCACACTGTGTGTCAGGAAACCGCAGCCGTGCCAGGCCTGGCCCAGGCATTTATGTGGAGGGCGTATTCATTCACCTCTCACCGTGGCCTCTGGGGGGGTGAGGGGGGCATCTTCACTGAGGGCCATGGGCTGTGCAGGGTGGCACCTTCTGTCCGGCAAGGGCCAGGCCTGCTGTACTTGTGTGGGCCCAGGATGTGCCTGTCCCTGGTGCCCCACGGGAGCCGATGCACCGTCCTGGTAGAGTGAGATGACTGCTGGTGTCCACAGGCTGCTGGAAGACTACGTGGAAGCCATCGAGGGTGTCAGAACGCACCTGCTGCGGCACTCCGAGCCCAGTAAGCTCACCTTTGTGGGGGAGCTTGCCCACGGCCGCTTCAGTGCCAAGATGGTGAGTGTGTCTGCGGGGCCTTCCGGCCGCCGCCCCTTTTACCTTGGCTTCCAAGGTGCCTGAGTCATGATGTCAAAAAGAACGAAATCCTGGCCATGGCGCCCACGTGGAGGCCCTGGGTGGACCGTGGCTGCCTGGCCAGGCCTGTCTTGGCAACAGGGCAGTAAGGCCTTGTGTGGCACCTGGGGTGGGCAGGGCTTCCCCAGGGCAGCTCCCTCCCCGTGCCCGGTGTGTAGCAGGTCCTCGGGCGGTGTGTGGGGGCCGGGTTGGAGGGCCTGGTCCAGGCAGCTCCGCTGTTCCATGCCAAGTGCCCTCGCGTGGCCTCCCCTCCCAGGGTACCAGGGCCGAGGCAGCGCTGGGCTCCCACGTTGGCTGCCCGTGCAGCTGCAGGCTGAGGGCAGGGCCTGGGATCTGGGGCTGAAGAGACCCTCTGATTCCAGGACCACCTGGTGTGCTTCCTGCCAGGGACGCTGGCTCTGGGCGTCTACCACGGCCTGCCCGCCAGCCACATGGAGCTGGCCCAGGAGCTCATGGAGACTTGTTACCAGATGAACCGGCAGATGGAGACGGGGCTGAGTCCCGAGATCGTGCACTTCAACCTTTACCCCCAGCCGGGCCGTCGGGACGTGGAGGTCAAGGTGGGCCTGGGCCTGGGTCAGGGTCCATCAGGAGGAGGGTGCTGGCAGGGCTGGCCTTGCCCTGAGCTCTGCTCCGCCCACAGCCAGCAGACAGGCACAACCTGCTGCGGCCAGAGACCGTGGAGAGCCTGTTCTACCTGTACCGCGTCACAGGGGACCGCAAATACCAGGACTGGGGCTGGGAGATTCTGCAGAGCTTCAGCCGATTCACACGGGTGAGCACCTGTCCTCGCCCCGCGTGGTCACGGCCACCGGGCCACAGGCACGGCTGGGCTGTGGGGCTCAGGCTGGCTCCGCTCTTGGTGGTGGCTGTGACCTGGATCCGGGAGGGGCGGGCTTGCCGCAGCCTCGGGGTGGCCACACTGCAGCTTGGGGGCCCTGGCATCCCCATCCCCACTGAGCTTCATGGTTGTGGGACCCAGAGTACTTGGAGGGGCTGGGCACCCCTCATTTTCATTTCTCAGGGCCTGTCTAGGGAGGGTCTCTGCTGTGGGCCCAGCATCCCCCCAGTTTAGGAGGCACACGCACCCATGACTGGGGCACCATCCCCACTGTGGACCAGGCCCTGTTTTAGGTCACGCCCTCCACGCCAGAGTGTCACTTCCTGGCTCTGCTGTGATCTTGGCCTGAGGCCCCCGCTGCCTCCGCTCCCACCGTCTGCCCTGTGCCCTGTGCCCTGTGCGGCAACTGTGAGGCCCCCTGAGCCCAGGTTCTGGGGGAGGCGGTTTCTGTCGTGGTCACTTGAGGGTTGTTGGCATTTCCAGGTGGGCTCCGGTGGAACCACACGGCTCGCCTGGGGGTGGCCATCATCCAGGCGCCCTCCACCCTGAGCTTGCGCTGGGGGCCAC | TCCTCGTGTGAGTGCAGTCACACACGATTTGTCCTTTTTTTGTTTTCGTTTGTTGAGACAGAGTCTCATTCTGTCACTCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCCACTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCCAGCTAATTTTTGTGTTTTTATTAGAGACAGGGTTTCACCAAGTTGGCCAGACTGGTCTCAAACTCCTGACCTCGTGATCCACCCGCCTGGGCCTCCCACAGTGCTGGGATGACAGGCGTGAGCTACCACACCCGGCTGATTTATCCTTTTATTTGGGCTCCTTTCACTCAGCGTCTTTAAGCTTCATACGCGAAAGATGCTTCAGAGATTCCTTTTTCAGGCTGAATATCTGCTGCGTGGCTAGGCCACTTTTTGTTTAATCCTCTCTCCTCTGGTGGACACCAGGACTGTGCTGTTTTGGTTGCTGTAAGCGCGGGTGCACACGCCTGCCTGAGGCTGTGTTTTGGCCGTTGTGAGTGTGGGTGCACACACCTGCCTGAGGCTCTGCTTTGTTGTGAGTGCGGGTGCACACACCTGCCTGAGGCTGTGTTTTGGGTGTTGTGAGTGTGGGTGCACACACCTGCCTGAGGCTGTGTTTTGGGTGTTGTGAGTGTGGGTGCACACACCTGCCTGAGGCTGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACACCCACCACCACACCCCGTTATTTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGATGGTCTGGAACTGACCTCAGGTGATCCACCCACTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCTCTTTTTACTTTGTTAATGGTGTATTTTGATAGATAACAGATTGTCATTTTCATGAAGCACAGCTGGTCAGTTTATTGTTGCTCATGTATTTGGCCTCATGTTCGAGTCCCTGTTTTTAATCATGAGCTGGACACAGCCCTCTTTAGAGCAACTGTGACCACTTGTGGTGAGAAGTGCAGCCCACACCATCCACGTGAGGCTCCCACACGCCATCCACGTGAGGCTCCCATGCAGACATTTAGAAGGCGTTTTCACTGCAGCTCAGAAAATGGCCCCAGGCCCCCATGGGCACCCCCATGTCACCAGGGCCTCTGGTTGCTGCCGGTACACAGGGATAGGCAGCCAGGCCTCGAAGGTGCTGGGCATGGGTTTGGGTGTCTGCGTTGGGTAGAGACCCGGAGCGCCCTTGCTGGGCGTGCCCTAACATCCCGGTACCCTGTGCCCCTCTGTGGGCCAGGACGCCTGGTGCTGCCAGCTGGGCGTAAGCCCTGAGGAGCTGAGGGTGGCTGTGACTTGGAGGATGAGTAGGAGCTCACCAGGAGGGCGTGGAGCCGAGGCGTTTAATATCATCAGGAGCAACACTGGGCTCAGAAGGCAGGCACACTTGCCGTCCCTCCAGAGCCATGGCTGACGGCCAGGCCTGGTGGGCTCTCGTGAGGACAGTGCCTGTGGTTGTCAGATGCTGTCCCTTCGAGTAAGGGATGAGAGCCATCCTGAAGATGGGTCAGCTCTGTGGTGACCACCCGTTGGGAGCAGTGACATTCAGGTGCGTTGCACTGGTGGCTGTGTGGCTGTGTGGTACGGCCACCAGGAGCCATGTGGGCAAGGACAGCTGTGGGCTGGGCACAGAGCTCTCTCTGCTGGGAGTCAGTCGGTGCTGGGGCGAGGGGAGGCAGAGCTCACAGAGCCCCTCTACAGCTCACCCTGCAGCTCGGCCCTGGCCAGTAAACCCACCATCCCCCTTTCTGCCGCAGGAGGCAGTGGAGAAGGTGACACAGCACATCCACGGCCTGTCTGGGAAGAAGGATGGGCTGGTGCCCATGTTCATCAATACCCACAGTGGCCTCTTCACCCACCTGGGCGTATTCACGCTGGGCAGCTATGAGTACCTGCTGAAGCAGTGGATCCAGGGCGGGAAGCAGGAGACACAGTGAGGCCCGGCCCGCTGCCCCCAGCTCCCGCGGCTCCCCCGTTCCCGCAGCCCCCCACTCCTGCTGCCCCCAGCTCCCACGGCCCCCGCTCCTGCTGCCCCCCGCCACACTGTGTGTCAGGAAACCGCAGCCGTGCCAGGCCTGGCCCAGGCATTTATGTGGAGGGCGTATTCATTCACCTCTCACCGTGGCCTCTGGGGGGGTGAGGGGGGCATCTTCACTGAGGGCCATGGGCTGTGCAGGGTGGCACCTTCTGTCCGGCAAGGGCCAGGCCTGCTGTACTTGTGTGGGCCCAGGATGTGCCTGTCCCTGGTGCCCCACGGGAGCCGATGCACCGTCCTGGTAGAGTGAGATGACTGCTGGTGTCCACAGGCTGCTGGAAGACTACGTGGAAGCCATCGAGGGTGTCAGAACGCACCTGCTGCGGCACTCCGAGCCCAGTAAGCTCACCTTTGTGGGGGAGCTTGCCCACGGCCGCTTCAGTGCCAAGATGGTGAGTGTGTCTGCGGGGCCTTCCGGCCGCCGCCCCTTTTACCTTGGCTTCCAAGGTGCCTGAGTCATGATGTCAAAAAGAACGAAATCCTGGCCATGGCGCCCACGTGGAGGCCCTGGGTGGACCGTGGCTGCCTGGCCAGGCCTGTCTTGGCAACAGGGCAGTAAGGCCTTGTGTGGCACCTGGGGTGGGCAGGGCTTCCCCAGGGCAGCTCCCTCCCCGTGCCCGGTGTGTAGCAGGTCCTCGGGCGGTGTGTGGGGGCCGGGTTGGAGGGCCTGGTCCAGGCAGCTCCGCTGTTCCATGCCAAGTGCCCTCGCGTGGCCTCCCCTCCCAGGGTACCAGGGCCGAGGCAGCGCTGGGCTCCCACGTTGGCTGCCCGTGCAGCTGCAGGCTGAGGGCAGGGCCTGGGATCTGGGGCTGAAGAGACCCTCTGATTCCAGGACCACCTGGTGTGCTTCCTGCCAGGGACGCTGGCTCTGGGCGTCTACCACGGCCTGCCCGCCAGCCACATGGAGCTGGCCCAGGAGCTCATGGAGACTTGTTACCAGATGAACCGGCAGATGGAGACGGGGCTGAGTCCCGAGATCGTGCACTTCAACCTTTACCCCCAGCCGGGCCGTCGGGACGTGGAGGTCAAGGTGGGCCTGGGCCTGGGTCAGGGTCCATCAGGAGGAGGGTGCTGGCAGGGCTGGCCTTGCCCTGAGCTCTGCTCCGCCCACAGCCAGCAGACAGGCACAACCTGCTGCGGCCAGAGACCGTGGAGAGCCTGTTCTACCTGTACCGCGTCACAGGGGACCGCAAATACCAGGACTGGGGCTGGGAGATTCTGCAGAGCTTCAGCCGATTCACACGGGTGAGCACCTGTCCTCGCCCCGCGTGGTCACGGCCACCGGGCCACAGGCACGGCTGGGCTGTGGGGCTCAGGCTGGCTCCGCTCTTGGTGGTGGCTGTGACCTGGATCCGGGAGGGGCGGGCTTGCCGCAGCCTCGGGGTGGCCACACTGCAGCTTGGGGGCCCTGGCATCCCCATCCCCACTGAGCTTCATGGTTGTGGGACCCAGAGTACTTGGAGGGGCTGGGCACCCCTCATTTTCATTTCTCAGGGCCTGTCTAGGGAGGGTCTCTGCTGTGGGCCCAGCATCCCCCCAGTTTAGGAGGCACACGCACCCATGACTGGGGCACCATCCCCACTGTGGACCAGGCCCTGTTTTAGGTCACGCCCTCCACGCCAGAGTGTCACTTCCTGGCTCTGCTGTGATCTTGGCCTGAGGCCCCCGCTGCCTCCGCTCCCACCGTCTGCCCTGTGCCCTGTGCCCTGTGCGGCAACTGTGAGGCCCCCTGAGCCCAGGTTCTGGGGGAGGCGGTTTCTGTCGTGGTCACTTGAGGGTTGTTGGCATTTCCAGGTGGGCTCCGGTGGAACCACACGGCTCGCCTGGGGGTGGCCATCATCCAGGCGCCCTCCACCCTGAGCTTGCGCTGGGGGCCACNNNNNNNNNNNNNNN | pathogenic | 156,158 |
Considering the variant on chromosome 9, location 137107419, involving gene MAN1B1 (mannosidase alpha class 1B member 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; [] | AGGCTCCCATGCAGACATTTAGAAGGCGTTTTCACTGCAGCTCAGAAAATGGCCCCAGGCCCCCATGGGCACCCCCATGTCACCAGGGCCTCTGGTTGCTGCCGGTACACAGGGATAGGCAGCCAGGCCTCGAAGGTGCTGGGCATGGGTTTGGGTGTCTGCGTTGGGTAGAGACCCGGAGCGCCCTTGCTGGGCGTGCCCTAACATCCCGGTACCCTGTGCCCCTCTGTGGGCCAGGACGCCTGGTGCTGCCAGCTGGGCGTAAGCCCTGAGGAGCTGAGGGTGGCTGTGACTTGGAGGATGAGTAGGAGCTCACCAGGAGGGCGTGGAGCCGAGGCGTTTAATATCATCAGGAGCAACACTGGGCTCAGAAGGCAGGCACACTTGCCGTCCCTCCAGAGCCATGGCTGACGGCCAGGCCTGGTGGGCTCTCGTGAGGACAGTGCCTGTGGTTGTCAGATGCTGTCCCTTCGAGTAAGGGATGAGAGCCATCCTGAAGATGGGTCAGCTCTGTGGTGACCACCCGTTGGGAGCAGTGACATTCAGGTGCGTTGCACTGGTGGCTGTGTGGCTGTGTGGTACGGCCACCAGGAGCCATGTGGGCAAGGACAGCTGTGGGCTGGGCACAGAGCTCTCTCTGCTGGGAGTCAGTCGGTGCTGGGGCGAGGGGAGGCAGAGCTCACAGAGCCCCTCTACAGCTCACCCTGCAGCTCGGCCCTGGCCAGTAAACCCACCATCCCCCTTTCTGCCGCAGGAGGCAGTGGAGAAGGTGACACAGCACATCCACGGCCTGTCTGGGAAGAAGGATGGGCTGGTGCCCATGTTCATCAATACCCACAGTGGCCTCTTCACCCACCTGGGCGTATTCACGCTGGGCGCCAGGGCCGACAGCTACTATGAGTACCTGCTGAAGCAGTGGATCCAGGGCGGGAAGCAGGAGACACAGTGAGGCCCGGCCCGCTGCCCCCAGCTCCCGCGGCTCCCCCGTTCCCGCAGCCCCCCACTCCTGCTGCCCCCAGCTCCCACGGCCCCCGCTCCTGCTGCCCCCCGCCACACTGTGTGTCAGGAAACCGCAGCCGTGCCAGGCCTGGCCCAGGCATTTATGTGGAGGGCGTATTCATTCACCTCTCACCGTGGCCTCTGGGGGGGTGAGGGGGGCATCTTCACTGAGGGCCATGGGCTGTGCAGGGTGGCACCTTCTGTCCGGCAAGGGCCAGGCCTGCTGTACTTGTGTGGGCCCAGGATGTGCCTGTCCCTGGTGCCCCACGGGAGCCGATGCACCGTCCTGGTAGAGTGAGATGACTGCTGGTGTCCACAGGCTGCTGGAAGACTACGTGGAAGCCATCGAGGGTGTCAGAACGCACCTGCTGCGGCACTCCGAGCCCAGTAAGCTCACCTTTGTGGGGGAGCTTGCCCACGGCCGCTTCAGTGCCAAGATGGTGAGTGTGTCTGCGGGGCCTTCCGGCCGCCGCCCCTTTTACCTTGGCTTCCAAGGTGCCTGAGTCATGATGTCAAAAAGAACGAAATCCTGGCCATGGCGCCCACGTGGAGGCCCTGGGTGGACCGTGGCTGCCTGGCCAGGCCTGTCTTGGCAACAGGGCAGTAAGGCCTTGTGTGGCACCTGGGGTGGGCAGGGCTTCCCCAGGGCAGCTCCCTCCCCGTGCCCGGTGTGTAGCAGGTCCTCGGGCGGTGTGTGGGGGCCGGGTTGGAGGGCCTGGTCCAGGCAGCTCCGCTGTTCCATGCCAAGTGCCCTCGCGTGGCCTCCCCTCCCAGGGTACCAGGGCCGAGGCAGCGCTGGGCTCCCACGTTGGCTGCCCGTGCAGCTGCAGGCTGAGGGCAGGGCCTGGGATCTGGGGCTGAAGAGACCCTCTGATTCCAGGACCACCTGGTGTGCTTCCTGCCAGGGACGCTGGCTCTGGGCGTCTACCACGGCCTGCCCGCCAGCCACATGGAGCTGGCCCAGGAGCTCATGGAGACTTGTTACCAGATGAACCGGCAGATGGAGACGGGGCTGAGTCCCGAGATCGTGCACTTCAACCTTTACCCCCAGCCGGGCCGTCGGGACGTGGAGGTCAAGGTGGGCCTGGGCCTGGGTCAGGGTCCATCAGGAGGAGGGTGCTGGCAGGGCTGGCCTTGCCCTGAGCTCTGCTCCGCCCACAGCCAGCAGACAGGCACAACCTGCTGCGGCCAGAGACCGTGGAGAGCCTGTTCTACCTGTACCGCGTCACAGGGGACCGCAAATACCAGGACTGGGGCTGGGAGATTCTGCAGAGCTTCAGCCGATTCACACGGGTGAGCACCTGTCCTCGCCCCGCGTGGTCACGGCCACCGGGCCACAGGCACGGCTGGGCTGTGGGGCTCAGGCTGGCTCCGCTCTTGGTGGTGGCTGTGACCTGGATCCGGGAGGGGCGGGCTTGCCGCAGCCTCGGGGTGGCCACACTGCAGCTTGGGGGCCCTGGCATCCCCATCCCCACTGAGCTTCATGGTTGTGGGACCCAGAGTACTTGGAGGGGCTGGGCACCCCTCATTTTCATTTCTCAGGGCCTGTCTAGGGAGGGTCTCTGCTGTGGGCCCAGCATCCCCCCAGTTTAGGAGGCACACGCACCCATGACTGGGGCACCATCCCCACTGTGGACCAGGCCCTGTTTTAGGTCACGCCCTCCACGCCAGAGTGTCACTTCCTGGCTCTGCTGTGATCTTGGCCTGAGGCCCCCGCTGCCTCCGCTCCCACCGTCTGCCCTGTGCCCTGTGCCCTGTGCGGCAACTGTGAGGCCCCCTGAGCCCAGGTTCTGGGGGAGGCGGTTTCTGTCGTGGTCACTTGAGGGTTGTTGGCATTTCCAGGTGGGCTCCGGTGGAACCACACGGCTCGCCTGGGGGTGGCCATCATCCAGGCGCCCTCCACCCTGAGCTTGCGCTGGGGGCCACATTCACCATGGGGTGGAGAGCGCTTCGGTGATGAGGCTGAGGGGGGTGCAGGGTGCCCCCCGTGTGGTGACGAGGCCCTGGCTGCTGCACAGGTCCCCTCGGGTGGCTATTCTTCCATCAACAATGTCCAGGATCCTCAGAAGCCCGAGCCTAGGGACAAGATGGAGAGCTTCTTCCTGGGGGAGACGCTCAAGTATCTGTTCTTGCTCTTCTCCGATGACCCAAACCTGCTCAGCCTGGATGCCTACGTGTTCAACACCGAAGCCCACCCTCTGCCTATCTGGACCCCTGCCTAGGGTGGATGGCTGCTGGTGTGGGGACTTCGGGTGGGCAGAGGCACCTTGCTGGGTCTGTGGCATTTTCCAAGGGCCCACGTAGCACCGGCAACCGCCAAGTGGCCCAGGCTCTGAACTGGCTCTGGGCTCCTCCTCGTCTCTGCTTTAATCAGGACACCGTGAGGACAAGTGAGGCCGTCAGTCTTGGTGTGATGCGGGGTGGGCTGGGCCGCTGGAGCCTCCGCCTGCTTCCTCCAGAAGACACGAATCATGACTCACGATTGCTGAAGCCTGAGCAGGTCTCTGTGGGCCGACCAGAGGGGGGCTTCGAGGTGGTCCCTGGTACTGGGGTGACCGAGTGGACAGCCCAGGGTGCAGCTCTGCCCGGGCTCGTGAAGCCTCAGATGTCCCCAATCCAAGGGTCTGGAGGGGCTGCCGTGACTCCAGAGGCCTGAGGCTCCAGGGCTGGCTCTGGTGTTTACAAGCTGGACTCAGGGATCCTCCTGGCCGCCCCGCAGGGGGCTTGGAGGGCTGGACGGCAAGTCCGTCTAGCTCACGGGCCCCTCCAGTGGAATGGGTCTTTTCGGTGGAGATAAAAGTTGATTTGCTCTAACCGCGATGTCGCCTGTGTCTTTAGGGATCTCCATGACTGGAAAGTCTGGGCGGACGTTGGGGAGAAGGTATTCTTCAAGTCACGTCTCAGAATTCGGTTTGCTGAGACTGGACTCTAGCTGTCCCCTGCTGGTGGGCAGGGAGAGGCCACGGGGAAGCTCCGTGTCCCTGGCCCCACGGGGCAGATGCTTGGCGGGAGGCATCCTTGCGCCTGCGTTTCACACAGGGCCTGTTTCCCTGCAGGGCTGGCACTGAGGCGCACAGCTGAGGGATACACGGGCCCT | AGGCTCCCATGCAGACATTTAGAAGGCGTTTTCACTGCAGCTCAGAAAATGGCCCCAGGCCCCCATGGGCACCCCCATGTCACCAGGGCCTCTGGTTGCTGCCGGTACACAGGGATAGGCAGCCAGGCCTCGAAGGTGCTGGGCATGGGTTTGGGTGTCTGCGTTGGGTAGAGACCCGGAGCGCCCTTGCTGGGCGTGCCCTAACATCCCGGTACCCTGTGCCCCTCTGTGGGCCAGGACGCCTGGTGCTGCCAGCTGGGCGTAAGCCCTGAGGAGCTGAGGGTGGCTGTGACTTGGAGGATGAGTAGGAGCTCACCAGGAGGGCGTGGAGCCGAGGCGTTTAATATCATCAGGAGCAACACTGGGCTCAGAAGGCAGGCACACTTGCCGTCCCTCCAGAGCCATGGCTGACGGCCAGGCCTGGTGGGCTCTCGTGAGGACAGTGCCTGTGGTTGTCAGATGCTGTCCCTTCGAGTAAGGGATGAGAGCCATCCTGAAGATGGGTCAGCTCTGTGGTGACCACCCGTTGGGAGCAGTGACATTCAGGTGCGTTGCACTGGTGGCTGTGTGGCTGTGTGGTACGGCCACCAGGAGCCATGTGGGCAAGGACAGCTGTGGGCTGGGCACAGAGCTCTCTCTGCTGGGAGTCAGTCGGTGCTGGGGCGAGGGGAGGCAGAGCTCACAGAGCCCCTCTACAGCTCACCCTGCAGCTCGGCCCTGGCCAGTAAACCCACCATCCCCCTTTCTGCCGCAGGAGGCAGTGGAGAAGGTGACACAGCACATCCACGGCCTGTCTGGGAAGAAGGATGGGCTGGTGCCCATGTTCATCAATACCCACAGTGGCCTCTTCACCCACCTGGGCGTATTCACGCTGGGCGCCAGGGCCGACAGCTACTATGAGTACCTGCTGAAGCAGTGGATCCAGGGCGGGAAGCAGGAGACACAGTGAGGCCCGGCCCGCTGCCCCCAGCTCCCGCGGCTCCCCCGTTCCCGCAGCCCCCCACTCCTGCTGCCCCCAGCTCCCACGGCCCCCGCTCCTGCTGCCCCCCGCCACACTGTGTGTCAGGAAACCGCAGCCGTGCCAGGCCTGGCCCAGGCATTTATGTGGAGGGCGTATTCATTCACCTCTCACCGTGGCCTCTGGGGGGGTGAGGGGGGCATCTTCACTGAGGGCCATGGGCTGTGCAGGGTGGCACCTTCTGTCCGGCAAGGGCCAGGCCTGCTGTACTTGTGTGGGCCCAGGATGTGCCTGTCCCTGGTGCCCCACGGGAGCCGATGCACCGTCCTGGTAGAGTGAGATGACTGCTGGTGTCCACAGGCTGCTGGAAGACTACGTGGAAGCCATCGAGGGTGTCAGAACGCACCTGCTGCGGCACTCCGAGCCCAGTAAGCTCACCTTTGTGGGGGAGCTTGCCCACGGCCGCTTCAGTGCCAAGATGGTGAGTGTGTCTGCGGGGCCTTCCGGCCGCCGCCCCTTTTACCTTGGCTTCCAAGGTGCCTGAGTCATGATGTCAAAAAGAACGAAATCCTGGCCATGGCGCCCACGTGGAGGCCCTGGGTGGACCGTGGCTGCCTGGCCAGGCCTGTCTTGGCAACAGGGCAGTAAGGCCTTGTGTGGCACCTGGGGTGGGCAGGGCTTCCCCAGGGCAGCTCCCTCCCCGTGCCCGGTGTGTAGCAGGTCCTCGGGCGGTGTGTGGGGGCCGGGTTGGAGGGCCTGGTCCAGGCAGCTCCGCTGTTCCATGCCAAGTGCCCTCGCGTGGCCTCCCCTCCCAGGGTACCAGGGCCGAGGCAGCGCTGGGCTCCCACGTTGGCTGCCCGTGCAGCTGCAGGCTGAGGGCAGGGCCTGGGATCTGGGGCTGAAGAGACCCTCTGATTCCAGGACCACCTGGTGTGCTTCCTGCCAGGGACGCTGGCTCTGGGCGTCTACCACGGCCTGCCCGCCAGCCACATGGAGCTGGCCCAGGAGCTCATGGAGACTTGTTACCAGATGAACCGGCAGATGGAGACGGGGCTGAGTCCCGAGATCGTGCACTTCAACCTTTACCCCCCGGCCGGGCCGTCGGGACGTGGAGGTCAAGGTGGGCCTGGGCCTGGGTCAGGGTCCATCAGGAGGAGGGTGCTGGCAGGGCTGGCCTTGCCCTGAGCTCTGCTCCGCCCACAGCCAGCAGACAGGCACAACCTGCTGCGGCCAGAGACCGTGGAGAGCCTGTTCTACCTGTACCGCGTCACAGGGGACCGCAAATACCAGGACTGGGGCTGGGAGATTCTGCAGAGCTTCAGCCGATTCACACGGGTGAGCACCTGTCCTCGCCCCGCGTGGTCACGGCCACCGGGCCACAGGCACGGCTGGGCTGTGGGGCTCAGGCTGGCTCCGCTCTTGGTGGTGGCTGTGACCTGGATCCGGGAGGGGCGGGCTTGCCGCAGCCTCGGGGTGGCCACACTGCAGCTTGGGGGCCCTGGCATCCCCATCCCCACTGAGCTTCATGGTTGTGGGACCCAGAGTACTTGGAGGGGCTGGGCACCCCTCATTTTCATTTCTCAGGGCCTGTCTAGGGAGGGTCTCTGCTGTGGGCCCAGCATCCCCCCAGTTTAGGAGGCACACGCACCCATGACTGGGGCACCATCCCCACTGTGGACCAGGCCCTGTTTTAGGTCACGCCCTCCACGCCAGAGTGTCACTTCCTGGCTCTGCTGTGATCTTGGCCTGAGGCCCCCGCTGCCTCCGCTCCCACCGTCTGCCCTGTGCCCTGTGCCCTGTGCGGCAACTGTGAGGCCCCCTGAGCCCAGGTTCTGGGGGAGGCGGTTTCTGTCGTGGTCACTTGAGGGTTGTTGGCATTTCCAGGTGGGCTCCGGTGGAACCACACGGCTCGCCTGGGGGTGGCCATCATCCAGGCGCCCTCCACCCTGAGCTTGCGCTGGGGGCCACATTCACCATGGGGTGGAGAGCGCTTCGGTGATGAGGCTGAGGGGGGTGCAGGGTGCCCCCCGTGTGGTGACGAGGCCCTGGCTGCTGCACAGGTCCCCTCGGGTGGCTATTCTTCCATCAACAATGTCCAGGATCCTCAGAAGCCCGAGCCTAGGGACAAGATGGAGAGCTTCTTCCTGGGGGAGACGCTCAAGTATCTGTTCTTGCTCTTCTCCGATGACCCAAACCTGCTCAGCCTGGATGCCTACGTGTTCAACACCGAAGCCCACCCTCTGCCTATCTGGACCCCTGCCTAGGGTGGATGGCTGCTGGTGTGGGGACTTCGGGTGGGCAGAGGCACCTTGCTGGGTCTGTGGCATTTTCCAAGGGCCCACGTAGCACCGGCAACCGCCAAGTGGCCCAGGCTCTGAACTGGCTCTGGGCTCCTCCTCGTCTCTGCTTTAATCAGGACACCGTGAGGACAAGTGAGGCCGTCAGTCTTGGTGTGATGCGGGGTGGGCTGGGCCGCTGGAGCCTCCGCCTGCTTCCTCCAGAAGACACGAATCATGACTCACGATTGCTGAAGCCTGAGCAGGTCTCTGTGGGCCGACCAGAGGGGGGCTTCGAGGTGGTCCCTGGTACTGGGGTGACCGAGTGGACAGCCCAGGGTGCAGCTCTGCCCGGGCTCGTGAAGCCTCAGATGTCCCCAATCCAAGGGTCTGGAGGGGCTGCCGTGACTCCAGAGGCCTGAGGCTCCAGGGCTGGCTCTGGTGTTTACAAGCTGGACTCAGGGATCCTCCTGGCCGCCCCGCAGGGGGCTTGGAGGGCTGGACGGCAAGTCCGTCTAGCTCACGGGCCCCTCCAGTGGAATGGGTCTTTTCGGTGGAGATAAAAGTTGATTTGCTCTAACCGCGATGTCGCCTGTGTCTTTAGGGATCTCCATGACTGGAAAGTCTGGGCGGACGTTGGGGAGAAGGTATTCTTCAAGTCACGTCTCAGAATTCGGTTTGCTGAGACTGGACTCTAGCTGTCCCCTGCTGGTGGGCAGGGAGAGGCCACGGGGAAGCTCCGTGTCCCTGGCCCCACGGGGCAGATGCTTGGCGGGAGGCATCCTTGCGCCTGCGTTTCACACAGGGCCTGTTTCCCTGCAGGGCTGGCACTGAGGCGCACAGCTGAGGGATACACGGGCCC | pathogenic | 156,173 |
A genetic variant at chromosome 9, position 137107598, affecting gene MAN1B1 (mannosidase alpha class 1B member 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Inborn_genetic_diseases', 'Rafiq_syndrome'] | AGCGCCCTTGCTGGGCGTGCCCTAACATCCCGGTACCCTGTGCCCCTCTGTGGGCCAGGACGCCTGGTGCTGCCAGCTGGGCGTAAGCCCTGAGGAGCTGAGGGTGGCTGTGACTTGGAGGATGAGTAGGAGCTCACCAGGAGGGCGTGGAGCCGAGGCGTTTAATATCATCAGGAGCAACACTGGGCTCAGAAGGCAGGCACACTTGCCGTCCCTCCAGAGCCATGGCTGACGGCCAGGCCTGGTGGGCTCTCGTGAGGACAGTGCCTGTGGTTGTCAGATGCTGTCCCTTCGAGTAAGGGATGAGAGCCATCCTGAAGATGGGTCAGCTCTGTGGTGACCACCCGTTGGGAGCAGTGACATTCAGGTGCGTTGCACTGGTGGCTGTGTGGCTGTGTGGTACGGCCACCAGGAGCCATGTGGGCAAGGACAGCTGTGGGCTGGGCACAGAGCTCTCTCTGCTGGGAGTCAGTCGGTGCTGGGGCGAGGGGAGGCAGAGCTCACAGAGCCCCTCTACAGCTCACCCTGCAGCTCGGCCCTGGCCAGTAAACCCACCATCCCCCTTTCTGCCGCAGGAGGCAGTGGAGAAGGTGACACAGCACATCCACGGCCTGTCTGGGAAGAAGGATGGGCTGGTGCCCATGTTCATCAATACCCACAGTGGCCTCTTCACCCACCTGGGCGTATTCACGCTGGGCGCCAGGGCCGACAGCTACTATGAGTACCTGCTGAAGCAGTGGATCCAGGGCGGGAAGCAGGAGACACAGTGAGGCCCGGCCCGCTGCCCCCAGCTCCCGCGGCTCCCCCGTTCCCGCAGCCCCCCACTCCTGCTGCCCCCAGCTCCCACGGCCCCCGCTCCTGCTGCCCCCCGCCACACTGTGTGTCAGGAAACCGCAGCCGTGCCAGGCCTGGCCCAGGCATTTATGTGGAGGGCGTATTCATTCACCTCTCACCGTGGCCTCTGGGGGGGTGAGGGGGGCATCTTCACTGAGGGCCATGGGCTGTGCAGGGTGGCACCTTCTGTCCGGCAAGGGCCAGGCCTGCTGTACTTGTGTGGGCCCAGGATGTGCCTGTCCCTGGTGCCCCACGGGAGCCGATGCACCGTCCTGGTAGAGTGAGATGACTGCTGGTGTCCACAGGCTGCTGGAAGACTACGTGGAAGCCATCGAGGGTGTCAGAACGCACCTGCTGCGGCACTCCGAGCCCAGTAAGCTCACCTTTGTGGGGGAGCTTGCCCACGGCCGCTTCAGTGCCAAGATGGTGAGTGTGTCTGCGGGGCCTTCCGGCCGCCGCCCCTTTTACCTTGGCTTCCAAGGTGCCTGAGTCATGATGTCAAAAAGAACGAAATCCTGGCCATGGCGCCCACGTGGAGGCCCTGGGTGGACCGTGGCTGCCTGGCCAGGCCTGTCTTGGCAACAGGGCAGTAAGGCCTTGTGTGGCACCTGGGGTGGGCAGGGCTTCCCCAGGGCAGCTCCCTCCCCGTGCCCGGTGTGTAGCAGGTCCTCGGGCGGTGTGTGGGGGCCGGGTTGGAGGGCCTGGTCCAGGCAGCTCCGCTGTTCCATGCCAAGTGCCCTCGCGTGGCCTCCCCTCCCAGGGTACCAGGGCCGAGGCAGCGCTGGGCTCCCACGTTGGCTGCCCGTGCAGCTGCAGGCTGAGGGCAGGGCCTGGGATCTGGGGCTGAAGAGACCCTCTGATTCCAGGACCACCTGGTGTGCTTCCTGCCAGGGACGCTGGCTCTGGGCGTCTACCACGGCCTGCCCGCCAGCCACATGGAGCTGGCCCAGGAGCTCATGGAGACTTGTTACCAGATGAACCGGCAGATGGAGACGGGGCTGAGTCCCGAGATCGTGCACTTCAACCTTTACCCCCAGCCGGGCCGTCGGGACGTGGAGGTCAAGGTGGGCCTGGGCCTGGGTCAGGGTCCATCAGGAGGAGGGTGCTGGCAGGGCTGGCCTTGCCCTGAGCTCTGCTCCGCCCACAGCCAGCAGACAGGCACAACCTGCTGCGGCCAGAGACCGTGGAGAGCCTGTTCTACCTGTACCGCGTCACAGGGGACCGCAAATACCAGGACTGGGGCTGGGAGATTCTGCAGAGCTTCAGCCGATTCACACGGGTGAGCACCTGTCCTCGCCCCGCGTGGTCACGGCCACCGGGCCACAGGCACGGCTGGGCTGTGGGGCTCAGGCTGGCTCCGCTCTTGGTGGTGGCTGTGACCTGGATCCGGGAGGGGCGGGCTTGCCGCAGCCTCGGGGTGGCCACACTGCAGCTTGGGGGCCCTGGCATCCCCATCCCCACTGAGCTTCATGGTTGTGGGACCCAGAGTACTTGGAGGGGCTGGGCACCCCTCATTTTCATTTCTCAGGGCCTGTCTAGGGAGGGTCTCTGCTGTGGGCCCAGCATCCCCCCAGTTTAGGAGGCACACGCACCCATGACTGGGGCACCATCCCCACTGTGGACCAGGCCCTGTTTTAGGTCACGCCCTCCACGCCAGAGTGTCACTTCCTGGCTCTGCTGTGATCTTGGCCTGAGGCCCCCGCTGCCTCCGCTCCCACCGTCTGCCCTGTGCCCTGTGCCCTGTGCGGCAACTGTGAGGCCCCCTGAGCCCAGGTTCTGGGGGAGGCGGTTTCTGTCGTGGTCACTTGAGGGTTGTTGGCATTTCCAGGTGGGCTCCGGTGGAACCACACGGCTCGCCTGGGGGTGGCCATCATCCAGGCGCCCTCCACCCTGAGCTTGCGCTGGGGGCCACATTCACCATGGGGTGGAGAGCGCTTCGGTGATGAGGCTGAGGGGGGTGCAGGGTGCCCCCCGTGTGGTGACGAGGCCCTGGCTGCTGCACAGGTCCCCTCGGGTGGCTATTCTTCCATCAACAATGTCCAGGATCCTCAGAAGCCCGAGCCTAGGGACAAGATGGAGAGCTTCTTCCTGGGGGAGACGCTCAAGTATCTGTTCTTGCTCTTCTCCGATGACCCAAACCTGCTCAGCCTGGATGCCTACGTGTTCAACACCGAAGCCCACCCTCTGCCTATCTGGACCCCTGCCTAGGGTGGATGGCTGCTGGTGTGGGGACTTCGGGTGGGCAGAGGCACCTTGCTGGGTCTGTGGCATTTTCCAAGGGCCCACGTAGCACCGGCAACCGCCAAGTGGCCCAGGCTCTGAACTGGCTCTGGGCTCCTCCTCGTCTCTGCTTTAATCAGGACACCGTGAGGACAAGTGAGGCCGTCAGTCTTGGTGTGATGCGGGGTGGGCTGGGCCGCTGGAGCCTCCGCCTGCTTCCTCCAGAAGACACGAATCATGACTCACGATTGCTGAAGCCTGAGCAGGTCTCTGTGGGCCGACCAGAGGGGGGCTTCGAGGTGGTCCCTGGTACTGGGGTGACCGAGTGGACAGCCCAGGGTGCAGCTCTGCCCGGGCTCGTGAAGCCTCAGATGTCCCCAATCCAAGGGTCTGGAGGGGCTGCCGTGACTCCAGAGGCCTGAGGCTCCAGGGCTGGCTCTGGTGTTTACAAGCTGGACTCAGGGATCCTCCTGGCCGCCCCGCAGGGGGCTTGGAGGGCTGGACGGCAAGTCCGTCTAGCTCACGGGCCCCTCCAGTGGAATGGGTCTTTTCGGTGGAGATAAAAGTTGATTTGCTCTAACCGCGATGTCGCCTGTGTCTTTAGGGATCTCCATGACTGGAAAGTCTGGGCGGACGTTGGGGAGAAGGTATTCTTCAAGTCACGTCTCAGAATTCGGTTTGCTGAGACTGGACTCTAGCTGTCCCCTGCTGGTGGGCAGGGAGAGGCCACGGGGAAGCTCCGTGTCCCTGGCCCCACGGGGCAGATGCTTGGCGGGAGGCATCCTTGCGCCTGCGTTTCACACAGGGCCTGTTTCCCTGCAGGGCTGGCACTGAGGCGCACAGCTGAGGGATACACGGGCCCTCAGGTCAGGCAGCTCCCAGCAGCCTGGCATGGCTATGGCCCCGAGCCCTGGGCTGTGGTGGCAGAGTTGTCCTCATCATCACTCTACTGCTGTCCCTATCCCAGGGCTGACCCTGGGCCTTGGCTGGGTTCCCCCCGACCCTGAACCAGGTGACCTCTTAGGACCACGCCCCCTCGCTC | AGCGCCCTTGCTGGGCGTGCCCTAACATCCCGGTACCCTGTGCCCCTCTGTGGGCCAGGACGCCTGGTGCTGCCAGCTGGGCGTAAGCCCTGAGGAGCTGAGGGTGGCTGTGACTTGGAGGATGAGTAGGAGCTCACCAGGAGGGCGTGGAGCCGAGGCGTTTAATATCATCAGGAGCAACACTGGGCTCAGAAGGCAGGCACACTTGCCGTCCCTCCAGAGCCATGGCTGACGGCCAGGCCTGGTGGGCTCTCGTGAGGACAGTGCCTGTGGTTGTCAGATGCTGTCCCTTCGAGTAAGGGATGAGAGCCATCCTGAAGATGGGTCAGCTCTGTGGTGACCACCCGTTGGGAGCAGTGACATTCAGGTGCGTTGCACTGGTGGCTGTGTGGCTGTGTGGTACGGCCACCAGGAGCCATGTGGGCAAGGACAGCTGTGGGCTGGGCACAGAGCTCTCTCTGCTGGGAGTCAGTCGGTGCTGGGGCGAGGGGAGGCAGAGCTCACAGAGCCCCTCTACAGCTCACCCTGCAGCTCGGCCCTGGCCAGTAAACCCACCATCCCCCTTTCTGCCGCAGGAGGCAGTGGAGAAGGTGACACAGCACATCCACGGCCTGTCTGGGAAGAAGGATGGGCTGGTGCCCATGTTCATCAATACCCACAGTGGCCTCTTCACCCACCTGGGCGTATTCACGCTGGGCGCCAGGGCCGACAGCTACTATGAGTACCTGCTGAAGCAGTGGATCCAGGGCGGGAAGCAGGAGACACAGTGAGGCCCGGCCCGCTGCCCCCAGCTCCCGCGGCTCCCCCGTTCCCGCAGCCCCCCACTCCTGCTGCCCCCAGCTCCCACGGCCCCCGCTCCTGCTGCCCCCCGCCACACTGTGTGTCAGGAAACCGCAGCCGTGCCAGGCCTGGCCCAGGCATTTATGTGGAGGGCGTATTCATTCACCTCTCACCGTGGCCTCTGGGGGGGTGAGGGGGGCATCTTCACTGAGGGCCATGGGCTGTGCAGGGTGGCACCTTCTGTCCGGCAAGGGCCAGGCCTGCTGTACTTGTGTGGGCCCAGGATGTGCCTGTCCCTGGTGCCCCACGGGAGCCGATGCACCGTCCTGGTAGAGTGAGATGACTGCTGGTGTCCACAGGCTGCTGGAAGACTACGTGGAAGCCATCGAGGGTGTCAGAACGCACCTGCTGCGGCACTCCGAGCCCAGTAAGCTCACCTTTGTGGGGGAGCTTGCCCACGGCCGCTTCAGTGCCAAGATGGTGAGTGTGTCTGCGGGGCCTTCCGGCCGCCGCCCCTTTTACCTTGGCTTCCAAGGTGCCTGAGTCATGATGTCAAAAAGAACGAAATCCTGGCCATGGCGCCCACGTGGAGGCCCTGGGTGGACCGTGGCTGCCTGGCCAGGCCTGTCTTGGCAACAGGGCAGTAAGGCCTTGTGTGGCACCTGGGGTGGGCAGGGCTTCCCCAGGGCAGCTCCCTCCCCGTGCCCGGTGTGTAGCAGGTCCTCGGGCGGTGTGTGGGGGCCGGGTTGGAGGGCCTGGTCCAGGCAGCTCCGCTGTTCCATGCCAAGTGCCCTCGCGTGGCCTCCCCTCCCAGGGTACCAGGGCCGAGGCAGCGCTGGGCTCCCACGTTGGCTGCCCGTGCAGCTGCAGGCTGAGGGCAGGGCCTGGGATCTGGGGCTGAAGAGACCCTCTGATTCCAGGACCACCTGGTGTGCTTCCTGCCAGGGACGCTGGCTCTGGGCGTCTACCACGGCCTGCCCGCCAGCCACATGGAGCTGGCCCAGGAGCTCATGGAGACTTGTTACCAGATGAACCGGCAGATGGAGACGGGGCTGAGTCCCGAGATCGTGCACTTCAACCTTTACCCCCAGCCGGGCCGTCGGGACGTGGAGGTCAAGGTGGGCCTGGGCCTGGGTCAGGGTCCATCAGGAGGAGGGTGCTGGCAGGGCTGGCCTTGCCCTGAGCTCTGCTCCGCCCACAGCCAGCAGACAGGCACAACCTGCTGCGGCCAGAGACCGTGGAGAGCCTGTTCTACCTGTACCGCGTCACGGGACCGCAAATACCAGGACTGGGGCTGGGAGATTCTGCAGAGCTTCAGCCGATTCACACGGGTGAGCACCTGTCCTCGCCCCGCGTGGTCACGGCCACCGGGCCACAGGCACGGCTGGGCTGTGGGGCTCAGGCTGGCTCCGCTCTTGGTGGTGGCTGTGACCTGGATCCGGGAGGGGCGGGCTTGCCGCAGCCTCGGGGTGGCCACACTGCAGCTTGGGGGCCCTGGCATCCCCATCCCCACTGAGCTTCATGGTTGTGGGACCCAGAGTACTTGGAGGGGCTGGGCACCCCTCATTTTCATTTCTCAGGGCCTGTCTAGGGAGGGTCTCTGCTGTGGGCCCAGCATCCCCCCAGTTTAGGAGGCACACGCACCCATGACTGGGGCACCATCCCCACTGTGGACCAGGCCCTGTTTTAGGTCACGCCCTCCACGCCAGAGTGTCACTTCCTGGCTCTGCTGTGATCTTGGCCTGAGGCCCCCGCTGCCTCCGCTCCCACCGTCTGCCCTGTGCCCTGTGCCCTGTGCGGCAACTGTGAGGCCCCCTGAGCCCAGGTTCTGGGGGAGGCGGTTTCTGTCGTGGTCACTTGAGGGTTGTTGGCATTTCCAGGTGGGCTCCGGTGGAACCACACGGCTCGCCTGGGGGTGGCCATCATCCAGGCGCCCTCCACCCTGAGCTTGCGCTGGGGGCCACATTCACCATGGGGTGGAGAGCGCTTCGGTGATGAGGCTGAGGGGGGTGCAGGGTGCCCCCCGTGTGGTGACGAGGCCCTGGCTGCTGCACAGGTCCCCTCGGGTGGCTATTCTTCCATCAACAATGTCCAGGATCCTCAGAAGCCCGAGCCTAGGGACAAGATGGAGAGCTTCTTCCTGGGGGAGACGCTCAAGTATCTGTTCTTGCTCTTCTCCGATGACCCAAACCTGCTCAGCCTGGATGCCTACGTGTTCAACACCGAAGCCCACCCTCTGCCTATCTGGACCCCTGCCTAGGGTGGATGGCTGCTGGTGTGGGGACTTCGGGTGGGCAGAGGCACCTTGCTGGGTCTGTGGCATTTTCCAAGGGCCCACGTAGCACCGGCAACCGCCAAGTGGCCCAGGCTCTGAACTGGCTCTGGGCTCCTCCTCGTCTCTGCTTTAATCAGGACACCGTGAGGACAAGTGAGGCCGTCAGTCTTGGTGTGATGCGGGGTGGGCTGGGCCGCTGGAGCCTCCGCCTGCTTCCTCCAGAAGACACGAATCATGACTCACGATTGCTGAAGCCTGAGCAGGTCTCTGTGGGCCGACCAGAGGGGGGCTTCGAGGTGGTCCCTGGTACTGGGGTGACCGAGTGGACAGCCCAGGGTGCAGCTCTGCCCGGGCTCGTGAAGCCTCAGATGTCCCCAATCCAAGGGTCTGGAGGGGCTGCCGTGACTCCAGAGGCCTGAGGCTCCAGGGCTGGCTCTGGTGTTTACAAGCTGGACTCAGGGATCCTCCTGGCCGCCCCGCAGGGGGCTTGGAGGGCTGGACGGCAAGTCCGTCTAGCTCACGGGCCCCTCCAGTGGAATGGGTCTTTTCGGTGGAGATAAAAGTTGATTTGCTCTAACCGCGATGTCGCCTGTGTCTTTAGGGATCTCCATGACTGGAAAGTCTGGGCGGACGTTGGGGAGAAGGTATTCTTCAAGTCACGTCTCAGAATTCGGTTTGCTGAGACTGGACTCTAGCTGTCCCCTGCTGGTGGGCAGGGAGAGGCCACGGGGAAGCTCCGTGTCCCTGGCCCCACGGGGCAGATGCTTGGCGGGAGGCATCCTTGCGCCTGCGTTTCACACAGGGCCTGTTTCCCTGCAGGGCTGGCACTGAGGCGCACAGCTGAGGGATACACGGGCCCTCAGGTCAGGCAGCTCCCAGCAGCCTGGCATGGCTATGGCCCCGAGCCCTGGGCTGTGGTGGCAGAGTTGTCCTCATCATCACTCTACTGCTGTCCCTATCCCAGGGCTGACCCTGGGCCTTGGCTGGGTTCCCCCCGACCCTGAACCAGGTGACCTCTTAGGACCACGCCCCCTCGCTCNN | pathogenic | 156,176 |
Mutation found at chromosome 9 position 137142021, gene GRIN1 (glutamate ionotropic receptor NMDA type subunit 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Intellectual_disability,_autosomal_dominant_8'] | AGAGGGCCCCTGGGGCTCCAGGCCCTGACTGGTGTGTGTAGACGTGGGGCTGGAGTGTGTCAGTGTGGGGGTGGGCATTCCGGGTAAGAGAGTAGAAGCGCCTGTCCAGCTACATGCCCGCCCTGCAGAGCTTTAAACAGGACGGGGCCTGGGGCCATCTTTGTTTCTGCTTCCAGGTTCTCCTGCCCTTTCTTTCGTCCCTTCCCCCTACCGATGGGTCCGCCTGGGAAGAGAAATGGCTCAGGTGCCACGGCAGGACGCTTTGTGGGGGTGGGAGTGGGGGTGCACACGCGAGAGGCATCAGGGCATGGGAGCTGTCGGCAGCCAGCGCTGCGGGGGAGGACGTGGCTCCTGGGATTTTGCCTGTCGGAGCTGTCCGCCCCTGGGCCGAGCGCCTGCTGAATTCCAATGAGGCTGCAAGGATCTGCAATGCAGCCCTTTATGTAAGAGGCAAGACAGACATCCAGCCTAGCACCGCTCACACGTGCCTACCTGATGGACACACCACATCTGTGGACACACATGCTCACACTCACACCAAATGTTACATTAGCACACACTCATGCACCTCAGCATCACACAATCAATTTCATATGCTCATCTGCACACATGCAGATCCATTGACACCTGCTCATGTGCCACACACGGCTTGGCATGCATTCCCAGAGGCACGTGCAAACATGCACATTTACACACATGGTTCCAGTCATTCACACGCATGTACACGAACAGACATGCCAGGGCATGTGATGCACATAACCATACCCTAGCACACGCGTGAACACCTGCATGGTCACACACGGACCTACGGGTCTTTGCCAAGCACCTCTGGGTGCAGGCTGGAAGCAAGAGCTGGGGGAGGGAGAACCACTTCAAACAGCTGCAGCTGCAGGGCCCACACCAGAGTTTTCTCAGAAATCCTCCCTCCCCACTTCACAAGCCACCCCCGTGCCCCAGCCCAGGACACCATGGGATGGGACTGGGGGGATGCATCTGTAGCCAGTGGCTGCAGTCACATATTCCATCTGGGACTGGGGAGGGACACGGAAGGTGGACTCAGGAAATCCAGGAGGGGCCATTCCTGGGGAATTGCTTCAACTCACGCCCATGTTGCTGTCTGTCTGTGGGCATGGCCTCTGCAGCAAAGGCAATGCCTGCAGCTACCACTCACGGAACACACCCCCGGCCAGGTACTGTCCTGCCACGTGGGGCCATGCAGTGCACGCCCCCATTCGCCAAAGCTCTAAGAGGCACAGGCAGACTTGGGGACAGACGCAGGTCCTTGCTGTGTGAAGGTGGTGTGGACCACCAGCTGCCTGCCTCCCTGCCTTGGGAGGCTGGGGAGAGAGGGAGGCATCAGCTCCAGGGGGCTGAGCCGCTGGCTTTAGATCTGCCCCATGGGGCCTTGGTCATGGGCAGGAAGGCTGGGCTGCACCCCCAATGCCTCCCTTCCCTTCCTTGAGGATGAGGCCAGCACTCAAAGTAAGGGCTTGGTGTTGTTCAGACAGAGCCCGTCACAGGCCCTGCCCCTGGAGACACCAGCAAAAGGGATCTCGGCCTCTTTGGCAGCTCCTAGCTGCTTCCCCCTGAAGTCCGGTACCACCCTTCAGAGCTGCCCGCCCTGTCTCGGGATGTGGGCTGGCCCCACCCCTGGCCCATCAGGAAGGACGGGTGGGTTCTGAGAATCAAGGCCATCATGATGCAGGACCAGCCATCCTCCCCGGTCCACCTTGGGTGCGTCCCGTGCTCCAGGCCCCCAGGACATCCCAAGGGCAGTCCTTCACCTGGCCCTTGAGCACAACACCTGCAGGGCCCTAGTCAGCAGTGTGAGAGGAGTGAGGGGAGGTCCGGGTGGGGTCTCCCTCCCCTGCCCTGTGGGCATGTGTGCATCTGGGCCTGGGCATGTAGCATGTACCCGAATCATGCCCCCAGCCCCCCTTAGCCTGCTGGGTTCAGCCCCTGCTGCTTCCAGATCTCAGCCTCTAACCCAGTGCCTGGCTCACCCCTGACTCAAGCTGATCATGTCTCCTGTGTCCACAGGTCTACGCCATCCTAGTTAGCCATCCACCTACCCCCAACGACCACTTCACTCCCACCCCTGTCTCCTACACAGCCGGCTTCTACCGCATACCCGTGCTGGGGCTGACCACCCGCATGTCCATCTACTCGGACAAGGTAAGCCTGACTGCCAGACCAGGCCTTCCGGCCCTCGGCCCCAGGGCACAGCCTGGCCACTCCAGGAGCAGCGGGCCGACCCGCTCACATGGAACTCACACACCACAAACAGCCACACAGCTCCCCCACATTCATGCACGTCCACACGCTCTCACGTGTCCAACTCACACATCTGCAAACATGCTCACATGCACACTCATGTGCTCTTACACACACAATACACACTCTCTTGCACATAGAGGGCTCACGTGGAGCCCAGCACGTGCCCCCAGCCCAGAGCAGGCCAAAGGGAGGGGGCACACATCACACACTCACACATCACACACACATCACACACTCACACATTCATACAGCACCCACACGCTACACTGCTATGCTCACCCTCCCCACACATGAACACTGACACACCCATGGATTCGCACAAAGTCACACACACTCACTGGCACAGGCACCAGTGACACCCCCTCAGGACGAGAGGGCCCGTGGGCTAGGAGAAGGGATGGCTGGGAGGCTTTCTAGACAGGTGGACTTTGAAGGGGAGTTTGGAGAGCTGGGGGTTGCTCCAGGAGGAAAGGGGTGTGCACGCAGCCAGGGTGGTGGGGCCAGCCTTTCCCACTGCAGGCATGGGTGGAGAGCAATGTCTGTGGTTGCAGCTCAGGGTCGGGGGCGCTGGCCTGGGGGCTTCCAGCCTCTAGGGCTGAGGGCACCTTGGCTTAGCCTCCTGCAGACCCTCCTGGCCCACAGGCTATGAGGAGGGCTTCTGTCCAATCCTGGAACATCAGCTGGAAGAGAGGAGGGTCATCCAGTCAGTTTTGCAGGAATCTCCAAGCCAGAGAGCCATGGGGGCTTGCTCTAGGTCACACAGCCCTCCGTCTACCCAGGATGCAAACTGGGCACTGAGAGGCTGACCAACCTGGGGCCACTGGCAGACAGACCTGCAGGGCCACTTGGCAGGGGACATCCAGTTTGGTGCCAGCGCTGAGGAGCCAGAGGGCTGGGCTGTGCAGCCAGGCTTCTGGGTCCCCCACCTTCTCCAAATTCCTCCTGCCCAGAGTCCACAGTCCTTGGTAACACTGCCTTAAAGCACAGGGGTCGCCCCAGCCAGGCCCAGGCTCTTCTGGGAGGATGGAAGGCCCCAGAGGCAGGAACTGAGACAGAGGCTGGAACAGCCACCTTCCTGAGGCTCTGAAAGCCCTGGCGTGCCCCCTCGGCACCCAAACTGCTCCTCCCAGGTGACTTCACCTCTGGCCATGGGAAGGTGGGGGTCTCATTCCTGTGCCCTCAGGCACGACCTCCTTCGCCTCTCTGGGCACCAGTTTCCTCACATGTGAAGGAGAGAAGATGGCCTTACCCAGGAAAGCAGCCAGTGGTCAAATGAAAGGCGGGGGAAACGGATGCCCCTGGCCCAGAGCAGGCCAAAGGGAGGGGGCACAGCTCACAGCTGCACCCTGGCCTTACCACAGTCTCTACACTACAACCAACCTGTGCCCAAAACATGAACCGGCAAGGCCAGGTCAGAGCTAGTCCAAGACCTCAAGCACAGCCTGCCTTGCCACCACGTCACCAGGTGGATAGACAGAAGCAGGGGACATTTTTGCACCCCAAGGCACTGCCCCAGGCCACAAAGAGGGAGCAGGTGAAAAATAACCTGGAAGCCTCAGAGGACCACAAGATCAGCAAGAGTCCACAGGGACACTGAAGGAACCAGGGCTTACCTGGACAGACACAGAGAACTGAGGCAGAGGGGGGCAGAGCCTGCTCCACTCCCGGCCATGCCACGGCACTCCGTGGCAGCTTGAAGCCAGGAAAAGCAAGCCAGGGCAAGCAAGCACCACGCTCTCGCCTGGGGAGATGAGGCCTTTAGCCCCAAGAGTGAATTCTTCTTCATACATAGAGTTGTTTAAATTTGGGAGGACTCTAT | AGAGGGCCCCTGGGGCTCCAGGCCCTGACTGGTGTGTGTAGACGTGGGGCTGGAGTGTGTCAGTGTGGGGGTGGGCATTCCGGGTAAGAGAGTAGAAGCGCCTGTCCAGCTACATGCCCGCCCTGCAGAGCTTTAAACAGGACGGGGCCTGGGGCCATCTTTGTTTCTGCTTCCAGGTTCTCCTGCCCTTTCTTTCGTCCCTTCCCCCTACCGATGGGTCCGCCTGGGAAGAGAAATGGCTCAGGTGCCACGGCAGGACGCTTTGTGGGGGTGGGAGTGGGGGTGCACACGCGAGAGGCATCAGGGCATGGGAGCTGTCGGCAGCCAGCGCTGCGGGGGAGGACGTGGCTCCTGGGATTTTGCCTGTCGGAGCTGTCCGCCCCTGGGCCGAGCGCCTGCTGAATTCCAATGAGGCTGCAAGGATCTGCAATGCAGCCCTTTATGTAAGAGGCAAGACAGACATCCAGCCTAGCACCGCTCACACGTGCCTACCTGATGGACACACCACATCTGTGGACACACATGCTCACACTCACACCAAATGTTACATTAGCACACACTCATGCACCTCAGCATCACACAATCAATTTCATATGCTCATCTGCACACATGCAGATCCATTGACACCTGCTCATGTGCCACACACGGCTTGGCATGCATTCCCAGAGGCACGTGCAAACATGCACATTTACACACATGGTTCCAGTCATTCACACGCATGTACACGAACAGACATGCCAGGGCATGTGATGCACATAACCATACCCTAGCACACGCGTGAACACCTGCATGGTCACACACGGACCTACGGGTCTTTGCCAAGCACCTCTGGGTGCAGGCTGGAAGCAAGAGCTGGGGGAGGGAGAACCACTTCAAACAGCTGCAGCTGCAGGGCCCACACCAGAGTTTTCTCAGAAATCCTCCCTCCCCACTTCACAAGCCACCCCCGTGCCCCAGCCCAGGACACCATGGGATGGGACTGGGGGGATGCATCTGTAGCCAGTGGCTGCAGTCACATATTCCATCTGGGACTGGGGAGGGACACGGAAGGTGGACTCAGGAAATCCAGGAGGGGCCATTCCTGGGGAATTGCTTCAACTCACGCCCATGTTGCTGTCTGTCTGTGGGCATGGCCTCTGCAGCAAAGGCAATGCCTGCAGCTACCACTCACGGAACACACCCCCGGCCAGGTACTGTCCTGCCACGTGGGGCCATGCAGTGCACGCCCCCATTCGCCAAAGCTCTAAGAGGCACAGGCAGACTTGGGGACAGACGCAGGTCCTTGCTGTGTGAAGGTGGTGTGGACCACCAGCTGCCTGCCTCCCTGCCTTGGGAGGCTGGGGAGAGAGGGAGGCATCAGCTCCAGGGGGCTGAGCCGCTGGCTTTAGATCTGCCCCATGGGGCCTTGGTCATGGGCAGGAAGGCTGGGCTGCACCCCCAATGCCTCCCTTCCCTTCCTTGAGGATGAGGCCAGCACTCAAAGTAAGGGCTTGGTGTTGTTCAGACAGAGCCCGTCACAGGCCCTGCCCCTGGAGACACCAGCAAAAGGGATCTCGGCCTCTTTGGCAGCTCCTAGCTGCTTCCCCCTGAAGTCCGGTACCACCCTTCAGAGCTGCCCGCCCTGTCTCGGGATGTGGGCTGGCCCCACCCCTGGCCCATCAGGAAGGACGGGTGGGTTCTGAGAATCAAGGCCATCATGATGCAGGACCAGCCATCCTCCCCGGTCCACCTTGGGTGCGTCCCGTGCTCCAGGCCCCCAGGACATCCCAAGGGCAGTCCTTCACCTGGCCCTTGAGCACAACACCTGCAGGGCCCTAGTCAGCAGTGTGAGAGGAGTGAGGGGAGGTCCGGGTGGGGTCTCCCTCCCCTGCCCTGTGGGCATGTGTGCATCTGGGCCTGGGCATGTAGCATGTACCCGAATCATGCCCCCAGCCCCCCTTAGCCTGCTGGGTTCAGCCCCTGCTGCTTCCAGATCTCAGCCTCTAACCCAGTGCCTGGCTCACCCCTGACTCAAGCTGATCATGTCTCCTGTGTCCACAGGTCTACGCCTCCTAGTTAGCCATCCACCTACCCCCAACGACCACTTCACTCCCACCCCTGTCTCCTACACAGCCGGCTTCTACCGCATACCCGTGCTGGGGCTGACCACCCGCATGTCCATCTACTCGGACAAGGTAAGCCTGACTGCCAGACCAGGCCTTCCGGCCCTCGGCCCCAGGGCACAGCCTGGCCACTCCAGGAGCAGCGGGCCGACCCGCTCACATGGAACTCACACACCACAAACAGCCACACAGCTCCCCCACATTCATGCACGTCCACACGCTCTCACGTGTCCAACTCACACATCTGCAAACATGCTCACATGCACACTCATGTGCTCTTACACACACAATACACACTCTCTTGCACATAGAGGGCTCACGTGGAGCCCAGCACGTGCCCCCAGCCCAGAGCAGGCCAAAGGGAGGGGGCACACATCACACACTCACACATCACACACACATCACACACTCACACATTCATACAGCACCCACACGCTACACTGCTATGCTCACCCTCCCCACACATGAACACTGACACACCCATGGATTCGCACAAAGTCACACACACTCACTGGCACAGGCACCAGTGACACCCCCTCAGGACGAGAGGGCCCGTGGGCTAGGAGAAGGGATGGCTGGGAGGCTTTCTAGACAGGTGGACTTTGAAGGGGAGTTTGGAGAGCTGGGGGTTGCTCCAGGAGGAAAGGGGTGTGCACGCAGCCAGGGTGGTGGGGCCAGCCTTTCCCACTGCAGGCATGGGTGGAGAGCAATGTCTGTGGTTGCAGCTCAGGGTCGGGGGCGCTGGCCTGGGGGCTTCCAGCCTCTAGGGCTGAGGGCACCTTGGCTTAGCCTCCTGCAGACCCTCCTGGCCCACAGGCTATGAGGAGGGCTTCTGTCCAATCCTGGAACATCAGCTGGAAGAGAGGAGGGTCATCCAGTCAGTTTTGCAGGAATCTCCAAGCCAGAGAGCCATGGGGGCTTGCTCTAGGTCACACAGCCCTCCGTCTACCCAGGATGCAAACTGGGCACTGAGAGGCTGACCAACCTGGGGCCACTGGCAGACAGACCTGCAGGGCCACTTGGCAGGGGACATCCAGTTTGGTGCCAGCGCTGAGGAGCCAGAGGGCTGGGCTGTGCAGCCAGGCTTCTGGGTCCCCCACCTTCTCCAAATTCCTCCTGCCCAGAGTCCACAGTCCTTGGTAACACTGCCTTAAAGCACAGGGGTCGCCCCAGCCAGGCCCAGGCTCTTCTGGGAGGATGGAAGGCCCCAGAGGCAGGAACTGAGACAGAGGCTGGAACAGCCACCTTCCTGAGGCTCTGAAAGCCCTGGCGTGCCCCCTCGGCACCCAAACTGCTCCTCCCAGGTGACTTCACCTCTGGCCATGGGAAGGTGGGGGTCTCATTCCTGTGCCCTCAGGCACGACCTCCTTCGCCTCTCTGGGCACCAGTTTCCTCACATGTGAAGGAGAGAAGATGGCCTTACCCAGGAAAGCAGCCAGTGGTCAAATGAAAGGCGGGGGAAACGGATGCCCCTGGCCCAGAGCAGGCCAAAGGGAGGGGGCACAGCTCACAGCTGCACCCTGGCCTTACCACAGTCTCTACACTACAACCAACCTGTGCCCAAAACATGAACCGGCAAGGCCAGGTCAGAGCTAGTCCAAGACCTCAAGCACAGCCTGCCTTGCCACCACGTCACCAGGTGGATAGACAGAAGCAGGGGACATTTTTGCACCCCAAGGCACTGCCCCAGGCCACAAAGAGGGAGCAGGTGAAAAATAACCTGGAAGCCTCAGAGGACCACAAGATCAGCAAGAGTCCACAGGGACACTGAAGGAACCAGGGCTTACCTGGACAGACACAGAGAACTGAGGCAGAGGGGGGCAGAGCCTGCTCCACTCCCGGCCATGCCACGGCACTCCGTGGCAGCTTGAAGCCAGGAAAAGCAAGCCAGGGCAAGCAAGCACCACGCTCTCGCCTGGGGAGATGAGGCCTTTAGCCCCAAGAGTGAATTCTTCTTCATACATAGAGTTGTTTAAATTTGGGAGGACTCTATN | pathogenic | 156,213 |
Variant chromosome 9, position 137157043, gene GRIN1 (glutamate ionotropic receptor NMDA type subunit 1): benign or pathogenic? Disease(s)? | benign | GTTTTGCAGAGAGACATGACGCCAATCTTAATTTTTGACAATTTTCCATAGCATGCAGATAATTTGTTTCCAAAACTTTTCATTTTCCTGAAGTCATCTTGATTGGTATCAGCTATTTCCATAAAACGATCGGATGAGTTTTGATGGACAGATCAGGCTTTTGTTTACAACTGTTTTGCTCCTAATCATTCCACCACATCACATGTCATGGACCTGAATTGCGTCAAGAAGACGGGCTTGTCTGTCAGGCCCTGGTGGGCACTTTGATAGCGGGCATGCTGTGCCATGACACGTGTGGTGTTGGGTCTTGCTGGACAAGCTGTGCTGTGTTCAGTGTGCGGAGCCTCTGCTAGATGCTCTCATTTGGGGCACTGGGCCAGTGCTACTGGGAGCACTTCTGTTTTGTGTCACTGACATCCAATAGCATCGTTATGTAGAGCAAACACCGAAGGGCTGCATTTCTTTGTGGGCTTATTCTCGAGAAAACTGGGGGCAGATCCCTCCTCAAGGAGGGGAGGGCCACCTTGGTTTCCAGTCAAGTATTGTGAAAATTATCCAACACTCAGGCAATCCACCCAACCCTGCTGCCCATGTCTGGAGAAGCAAAGTGTCAGGGGTAGTCCAGGCCCACCTGGAGACAGGTCAGGCCCTGCAGAGAAAGGTCTGACAGACGGGGGTGAGGGAAGACCCCCCAAAGGCCTCCAGAGTCCCACCAGGTCTCCAGGTCCTTGTCATAACCAGAGAGGCCCCAGCCCCAGAGGACCAGGTCCCCTGCTCCACTGTCCACAGGGGCCCACCTGCAAGCACACTGGCAGAGCTCAAGACCACACATGCCTGCAAGGTGAGGCCTGTCTGGGCTCTGTCCTCCTGCAGGCCCCAGGCCTGGGTGGCTGGGCGAAGGCAGCTGCTTATGCAGACTCCAGGGGGAAAGCCGCCTCTCATCTCTGGCCGTCCCCAGGACGCTGGATCCACCAATATCTCACCAACCTGGAGAGCCACTCAACCCCTCATTTCACATGTTTGAACATAGAGGACCAGAGGGGTGTGGCCTGTCTAGGAGGTCTTAGGAGCTCGGGTCCTGACTCTGCCACTTACCAACTCTTGTGTGTCCCATGTGCCTCCGCTTCCCCTCGGGACACAGAGATATTGTGAAAGTTAAACAACATAATCCCCGTAAAACACTTCGAGCAGTGCCTGGTATCTGGCCAGCAAGTGATCAATGGTGATCCATTACCATCCTGGGACCCCATCAGAGCCTTCTGAGGTGGAGGGAAGGGCGTGCTGGGGAGCACAGGTGCAGGTCACAAGAAGGAAGTCAGTCCCATAAGCCAGGTATCTAACCCCATCCCTGCTCCCCCAAGGTAAGGGCCAGCATCTAACCCCACCCCTGCTCCCCCAAGGTAAGGGCCAGCATCTAACCCCATCCCTGCTCCCCCAAGGTAAGGGGGCCAGCATCTAACCCCATCCCTGCTCCCCCAAGGTAAGAGCCAGCAACGGAGGCCTGGGAGGCTCCTGGGTTCTGGGCCGCAGCGCCTCTGCGAGGTCTGCAGGCTTCGCTCTAGGAGGGGATGGGGGCTGGGCAGGTCCCTGCTCCAGAGGAGGAGGACCTGGGCCTGCGGAGCGCCGCGGTGGGAGTGCTGGAGTCCTGGCCCGTCATCCCCGTCTGCCCCACAGCGAGGACGATGCTGCCACTGTATACCGCGCAGCCGCGATGCTGAACATGACGGGCTCCGGGTACGTGTGGCTGGTCGGCGAGCGCGAGATCTCGGGGAACGCCCTGCGCTACGCCCCAGACGGTGAGTGCTGGGCCTTGGCGGGGTCCCCGAACGGGGAGGACCCCACGGGCTCTGAGTCGCATGCTCGCCTAGGCATCCTCGGGCTGCAGCTCATCAACGGCAAGAACGAGTCGGCCCACATCAGCGACGCCGTGGGCGTGGTGGCCCAGGCCGTGCACGAGCTCCTCGAGAAGGAGAACATCACCGACCCGCCGCGGGGCTGCGTGGGCAACACCAACATCTGGAAGACCGGGCCGCTCTTCAAGAGGTGGGCGGGGCCTCCCCGGAGCTGGGCGGGGCTGCTCTTGGGGAGGTGGGCGGGGTCACTCCAGAGATGGGCGGGGCCGCTCTTGGGGAGGTGGGCGGGGCCACTCTCCAGAGCTGGGCGGAGCAGCTCTCAGGACTAGGCGGGGCCGCTCTTAGGGAGCTGGGGGAGCGCTCCTCAAGAGATGGGTGGGGGCACTCTCGGGGAGGTGGGCGGGGTCGCTTCCAGGAGGTGGGCGGCGTCGCTCTCAGGGGTACTGCAGTGGAGCCTGCTGCCAACATCCTCTGGACACTGTTACTTCTCTCCTCTCCCCCCACACCCCCAGCACCACCACATCTAATGGCACAATCATCTGCCCTCTTCTCAACACTGACACCAGTACCTGGGCCGTCACTGGAGTGGGGACTGGCTCCACTGCCTCCGCCCCTACTTTCCACACTGCAGCCCACCCTGAAACAGCACCCCTCTCCCTGTGTGGCTGGCAGCCTTTGGGAGGAGGCTCTTGATGCAGATGGGGACTGAAAGCTTCCAGGGACCCAGGAGGCCAGACAAGCAGCCCAAGAACAGCACACGAGCCTTAGACAGCCAGGGTTGGCCAAGGCCCAGAGACCCAAGTGAACATCTGCAGTGTGGCAGGAGTTAGCTCACAGCACGCCTGGACACCATGCCATGCCAGCTCACCCCCAGATCCCCAACCACTGAGTAGCACGTGCAGAGCCACCATCCACAACGCCCACATAAGTGCAGATGTAGGCAGCACGTGTGCACACACACGACACACATACACAGAACCATGTGTGCACACAGACTCAGGCACATGACACACATGTGACACAAGCACATGCATGGGGTGCACCCCACATAGGGATCACGTGTGCACACAGGTTCACTGATGTGGCCCGATGGGTACAATGCACACGTGCACACACAGCCGGACAGGACAGCCTGGTGGTTAGAGCTGGCTCAACCTCGCCTTCACTTGCTGGCAAGAGGGCAGGCATCCTTCTGAGCTTCTGCCTCCGTCTCTGTAAGGCAGGATGGTTCTGAGGACAACGTCCTAACCCACAGAAAGCCGGGTCTGGCACCCATAAACCACTCAGCTGTCATGAACCACACCGTCCATCTGGTGCAGGCAGATACCACGGTGTCCAGGGTCTGGCGTCTGCTGATCTTTCCGTTCTTGGGACTGGGACAAGGGAAAAGCCCAAGCTGCTCAGCCGGCAGGAGAAGGAGCAGGGAGAAGGAGCAGGGGGAAGGAGCAGGGAGAAGCAGCAGGGGGAAGGAGCAGGGAGGAGCAGGAGAAGGAGCATCTCTGAGAAGCCTCAGCTATGCTTCCTTCCCTAGAGTGCTGATGTCTTCCAAGTATGCGGATGGGGTGACTGGTCGCGTGGAGTTCAATGAGGATGGGGACCGGAAGTTCGCCAACTACAGCATCATGAACCTGCAGAACCGCAAGCTGGTGCAAGTGGGCATCTACAATGGCACCCACGTAGGTGGGGGTCATGAGGGGGTGGGGGCTGGGGCCTTAGGGTCCTGGGGCCAAGACCCCTGCGTGGCCACCCTCCATCTCATACTCCCACCCCCAGGTCATCCCTAATGACAGGAAGATCATCTGGCCAGGCGGAGAGACAGAGAAGCCTCGAGGGTACCAGATGTCCACCAGACTGAAGGTGGGGGCCCCACAGACCTCCCTCAGTGTCCCCACCCCAGACAGCCCATCCACCCCCTCTGGCCTGAAGGAGGAGGGTGCGGTGAGGTCAATGAAAGCCACTAAAGGAAGTGGGGGTGGGGCCTGCTTCCCCTGGACACCGTCCAGCACACCTGGCACAGCACAGGAAGCAGAGAGAACAGGAGGGAGGAGAGGAAGCTGCCCCCATCCCACAGGGGGTCTCCAGTGCCCCTCTTGACCCAGCCCTACTTAAGTCTGGGGCAGTTAGTTGTCTGACAGGACCCTGCTGGGGAAGAGCAGATGGGGGACAGCAGGCAGACCTCAGCTTCAGCACTCGCTGTCCCCAGTCCTGGTCCTCCACACCCCTCATCCCTCCTCCAGCCTGCA | GTTTTGCAGAGAGACATGACGCCAATCTTAATTTTTGACAATTTTCCATAGCATGCAGATAATTTGTTTCCAAAACTTTTCATTTTCCTGAAGTCATCTTGATTGGTATCAGCTATTTCCATAAAACGATCGGATGAGTTTTGATGGACAGATCAGGCTTTTGTTTACAACTGTTTTGCTCCTAATCATTCCACCACATCACATGTCATGGACCTGAATTGCGTCAAGAAGACGGGCTTGTCTGTCAGGCCCTGGTGGGCACTTTGATAGCGGGCATGCTGTGCCATGACACGTGTGGTGTTGGGTCTTGCTGGACAAGCTGTGCTGTGTTCAGTGTGCGGAGCCTCTGCTAGATGCTCTCATTTGGGGCACTGGGCCAGTGCTACTGGGAGCACTTCTGTTTTGTGTCACTGACATCCAATAGCATCGTTATGTAGAGCAAACACCGAAGGGCTGCATTTCTTTGTGGGCTTATTCTCGAGAAAACTGGGGGCAGATCCCTCCTCAAGGAGGGGAGGGCCACCTTGGTTTCCAGTCAAGTATTGTGAAAATTATCCAACACTCAGGCAATCCACCCAACCCTGCTGCCCATGTCTGGAGAAGCAAAGTGTCAGGGGTAGTCCAGGCCCACCTGGAGACAGGTCAGGCCCTGCAGAGAAAGGTCTGACAGACGGGGGTGAGGGAAGACCCCCCAAAGGCCTCCAGAGTCCCACCAGGTCTCCAGGTCCTTGTCATAACCAGAGAGGCCCCAGCCCCAGAGGACCAGGTCCCCTGCTCCACTGTCCACAGGGGCCCACCTGCAAGCACACTGGCAGAGCTCAAGACCACACATGCCTGCAAGGTGAGGCCTGTCTGGGCTCTGTCCTCCTGCAGGCCCCAGGCCTGGGTGGCTGGGCGAAGGCAGCTGCTTATGCAGACTCCAGGGGGAAAGCCGCCTCTCATCTCTGGCCGTCCCCAGGACGCTGGATCCACCAATATCTCACCAACCTGGAGAGCCACTCAACCCCTCATTTCACATGTTTGAACATAGAGGACCAGAGGGGTGTGGCCTGTCTAGGAGGTCTTAGGAGCTCGGGTCCTGACTCTGCCACTTACCAACTCTTGTGTGTCCCATGTGCCTCCGCTTCCCCTCGGGACACAGAGATATTGTGAAAGTTAAACAACATAATCCCCGTAAAACACTTCGAGCAGTGCCTGGTATCTGGCCAGCAAGTGATCAATGGTGATCCATTACCATCCTGGGACCCCATCAGAGCCTTCTGAGGTGGAGGGAAGGGCGTGCTGGGGAGCACAGGTGCAGGTCACAAGAAGGAAGTCAGTCCCATAAGCCAGGTATCTAACCCCATCCCTGCTCCCCCAAGGTAAGGGCCAGCATCTAACCCCACCCCTGCTCCCCCAAGGTAAGGGCCAGCATCTAACCCCATCCCTGCTCCCCCAAGGTAAGGGGGCCAGCATCTAACCCCATCCCTGCTCCCCCAAGGTAAGAGCCAGCAACGGAGGCCTGGGAGGCTCCTGGGTTCTGGGCCGCAGCGCCTCTGCGAGGTCTGCAGGCTTCGCTCTAGGAGGGGATGGGGGCTGGGCAGGTCCCTGCTCCAGAGGAGGAGGACCTGGGCCTGCGGAGCGCCGCGGTGGGAGTGCTGGAGTCCTGGCCCGTCATCCCCGTCTGCCCCACAGCGAGGACGATGCTGCCACTGTATACCGCGCAGCCGCGATGCTGAACATGACGGGCTCCGGGTACGTGTGGCTGGTCGGCGAGCGCGAGATCTCGGGGAACGCCCTGCGCTACGCCCCAGACGGTGAGTGCTGGGCCTTGGCGGGGTCCCCGAACGGGGAGGACCCCACGGGCTCTGAGTCGCATGCTCGCCTAGGCATCCTCGGGCTGCAGCTCATCAACGGCAAGAACGAGTCGGCCCACATCAGCGACGCCGTGGGCGTGGTGGCCCAGGCCGTGCACGAGCTCCTCGAGAAGGAGAACATCACCGACCCGCCGCGGGGCTGCGTGGGCAACACCAACATCTGGAAGACCGGGCCGCTCTTCAAGAGGTGGGCGGGGGCCTCCCCGGAGCTGGGCGGGGCTGCTCTTGGGGAGGTGGGCGGGGTCACTCCAGAGATGGGCGGGGCCGCTCTTGGGGAGGTGGGCGGGGCCACTCTCCAGAGCTGGGCGGAGCAGCTCTCAGGACTAGGCGGGGCCGCTCTTAGGGAGCTGGGGGAGCGCTCCTCAAGAGATGGGTGGGGGCACTCTCGGGGAGGTGGGCGGGGTCGCTTCCAGGAGGTGGGCGGCGTCGCTCTCAGGGGTACTGCAGTGGAGCCTGCTGCCAACATCCTCTGGACACTGTTACTTCTCTCCTCTCCCCCCACACCCCCAGCACCACCACATCTAATGGCACAATCATCTGCCCTCTTCTCAACACTGACACCAGTACCTGGGCCGTCACTGGAGTGGGGACTGGCTCCACTGCCTCCGCCCCTACTTTCCACACTGCAGCCCACCCTGAAACAGCACCCCTCTCCCTGTGTGGCTGGCAGCCTTTGGGAGGAGGCTCTTGATGCAGATGGGGACTGAAAGCTTCCAGGGACCCAGGAGGCCAGACAAGCAGCCCAAGAACAGCACACGAGCCTTAGACAGCCAGGGTTGGCCAAGGCCCAGAGACCCAAGTGAACATCTGCAGTGTGGCAGGAGTTAGCTCACAGCACGCCTGGACACCATGCCATGCCAGCTCACCCCCAGATCCCCAACCACTGAGTAGCACGTGCAGAGCCACCATCCACAACGCCCACATAAGTGCAGATGTAGGCAGCACGTGTGCACACACACGACACACATACACAGAACCATGTGTGCACACAGACTCAGGCACATGACACACATGTGACACAAGCACATGCATGGGGTGCACCCCACATAGGGATCACGTGTGCACACAGGTTCACTGATGTGGCCCGATGGGTACAATGCACACGTGCACACACAGCCGGACAGGACAGCCTGGTGGTTAGAGCTGGCTCAACCTCGCCTTCACTTGCTGGCAAGAGGGCAGGCATCCTTCTGAGCTTCTGCCTCCGTCTCTGTAAGGCAGGATGGTTCTGAGGACAACGTCCTAACCCACAGAAAGCCGGGTCTGGCACCCATAAACCACTCAGCTGTCATGAACCACACCGTCCATCTGGTGCAGGCAGATACCACGGTGTCCAGGGTCTGGCGTCTGCTGATCTTTCCGTTCTTGGGACTGGGACAAGGGAAAAGCCCAAGCTGCTCAGCCGGCAGGAGAAGGAGCAGGGAGAAGGAGCAGGGGGAAGGAGCAGGGAGAAGCAGCAGGGGGAAGGAGCAGGGAGGAGCAGGAGAAGGAGCATCTCTGAGAAGCCTCAGCTATGCTTCCTTCCCTAGAGTGCTGATGTCTTCCAAGTATGCGGATGGGGTGACTGGTCGCGTGGAGTTCAATGAGGATGGGGACCGGAAGTTCGCCAACTACAGCATCATGAACCTGCAGAACCGCAAGCTGGTGCAAGTGGGCATCTACAATGGCACCCACGTAGGTGGGGGTCATGAGGGGGTGGGGGCTGGGGCCTTAGGGTCCTGGGGCCAAGACCCCTGCGTGGCCACCCTCCATCTCATACTCCCACCCCCAGGTCATCCCTAATGACAGGAAGATCATCTGGCCAGGCGGAGAGACAGAGAAGCCTCGAGGGTACCAGATGTCCACCAGACTGAAGGTGGGGGCCCCACAGACCTCCCTCAGTGTCCCCACCCCAGACAGCCCATCCACCCCCTCTGGCCTGAAGGAGGAGGGTGCGGTGAGGTCAATGAAAGCCACTAAAGGAAGTGGGGGTGGGGCCTGCTTCCCCTGGACACCGTCCAGCACACCTGGCACAGCACAGGAAGCAGAGAGAACAGGAGGGAGGAGAGGAAGCTGCCCCCATCCCACAGGGGGTCTCCAGTGCCCCTCTTGACCCAGCCCTACTTAAGTCTGGGGCAGTTAGTTGTCTGACAGGACCCTGCTGGGGAAGAGCAGATGGGGGACAGCAGGCAGACCTCAGCTTCAGCACTCGCTGTCCCCAGTCCTGGTCCTCCACACCCCTCATCCCTCCTCCAGCCTGC | benign | 156,261 |
Evaluate this variant at chromosome 9, position 137161046, gene GRIN1 (glutamate ionotropic receptor NMDA type subunit 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | GAGCAGATGGGGGACAGCAGGCAGACCTCAGCTTCAGCACTCGCTGTCCCCAGTCCTGGTCCTCCACACCCCTCATCCCTCCTCCAGCCTGCATTGCTCTTGATGGGACCGGGTCAAACTGTCCTCTTCCACCGTGTGGGACAGCCCTTCCTGACTCCCCTGGGCCTCTGAGAGCCTCTGCCCTCGCCGGCTTCCTCCTCCAGAACATCTTTCCCTTGGCTCCCTACTCCAGGGTGCTCTCCTGGCCATTCCTCCCCGGGCAGAGCCACACTACCCCCACTCCACACACACTCCAGTCCTGGTAGCATCACAGACCACCAAAGGCAAGGACCTCACAGGCGACACGCCCACCAACCTTCTCTCGGTCATTCCAAGCCCTCAAATGTCTCTTGACCCTGTCTGTTTTCTGAGCCCACCCCTGAAGCTTGGTGTCAGCCCCTGTGACCTCTCACCCAGGCTCCCTCCCCTGCTCTGCACCGGCCCCTGTGGCCTCTCACCCAAGCTCCCTTCCCTGCTCTGCAGACAGGGTGGGGTTTTCCAGTGCCAGTGTGGGTTTCATTGCAGCCCAGACACCTCACACTGAAAAGTCTGAAAGCAGCGGTCAAACGCTAATGGCCAAAAGGCCCCATCTAGGCTGTGAGATGGAGATGGCTTTTTACAAATTTGTTTCTGGCCTCACTAATTTTTTAAAAATACTAGCATATATATTACCTGTATAACAGGAAAATGTAATGAAAGTTTTATAAAGCAAATCAACTTCTTCAATGGCTCCTGATTCCCCTGGGGATAAAAGACAAAATGCTGCCTGGAGGCTGAGGGTGGGCGGGCCTGCCCCCCTCTCAGGCTCACCCTGCCTAGGACATGCCGGGAGGGTGCCTCTCCCACCACCCCCACGCCTCCCTGCCTTTGCAGTTCTGGACTGCAGACTCCTCTGCTCCACCTGCCCTCAGGCACCTGCTTGATCCCTGCCCACCTTGAGGGCTCAGCTCTGACACCATCTCCCCTCACAGTTCTGGCAGTGTGCTATGCTCTATTCCAGCCCCCTGTGCCCCAGATCCCTTCCCCACCCCCATGCCATGGTCCCTTGAAGGACAGACAGGAGGGCGAGCCCAAGCAGGAGTGTGGGTCGAAGAGGCCACGGCGCGGTGGAGCACGTACACACGGGCAAGAGAAAGGAGCCAGAGACCTACATTCAAAGCCTGAGGGCTTCGGGACTGGGGGCCGGGACAGGCAGTGCGCCGGGATGAAGGGAGGCACGGGTGGGTGGCCCCACGGGTCCCAGGTCCTGTGCAGGTGCAGGGTCGGCTTTGTGGACATGCCCCTGTCCTCGTGGCACAGCAGGGTGGGGGTCAGCCTGCAGGCTGGGCTGTTTCTCACCCCAGGAAGATGCCTGGCATACACGGGACATCAGCGGCTCCTCTGCTGGAGGGAATCATGTCTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGGTCTCCGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTCAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAAGGGTCCAGCTCTCCAGGAGTCTTTTCTGAGCCCCCAGCCCCCACCCCCCCGGGGCTGCAGGCAGACGATGCTGACGGTGGCTGGGGAGGACGTGTCCTGAACACTTGGGCTCGTGAAGAAGCTCCAGAGAGGGGCAGTGGCCGGCGGCGCAGGGCGGGGGGTGTGAGGGGTGCGTCGGGGATTAAGAGGGGCGCCAGGGGAGGCTGGGAGCTGAGAAGAGACTGCCGCCCTGGGCAGCCTTAGGTCGGTGGTCCAGGCTGGGTCTCCCCTTCCCCCCCAGATTGTGACGATCCACCAGGAGCCCTTCGTGTACGTCAAGCCCACGCTGAGTGATGGGACATGCAAGGAGGAGTTCACAGTCAACGGCGACCCAGTCAAGAAGGTGATCTGCACCGGGCCCAACGACACGTCGCCGGGCAGCCGTGAGTGCGCGGGGCAGGGCGCGGGGCGCGGGGCAGGGCGCGGGGCGTGGGGCGGTCTGGAGCCCAGCAGTTACCGCCCGCACCTACCCAGCCCGCCACACGGTGCCTCAGTGTTGCTACGGCTTTTGCATCGACCTGCTCATCAAGCTGGCACGGACCATGAACTTCACCTACGAGGTGCACCTGGTGGCAGATGGCAAGTTCGGCACACAGGAGCGGGTAGGCTGGACGGCGGGGGTGGGGACCAGCGTGAGAGGGGCCTGCAGGCGCGGTCGGAGTGGGTGGGGCATGGAGTAGGCGGGGCTTGCAGATGGTGGGGGGTCCTGGGGTGAGTGGGGCATGGAGTGAGCGGAGCCTGCGGGCTGGGTCCTGGCGTGGGTAAAGCATGGGGTGGGCGGGGCCTGAGGGCTGGGTGGGGCCTGACATGGGAGGGGCCTGACGTGGGGGTCGGAGTGGGTGGGGCACGGAGTGGGCAGGGCCTGCAGGCGGGGGTCTGGAGTGGGCGGGACGTGGAGTGGGCGGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGGGCCTGACTATTCTGGTCAAGAAGGTGGGCAGGGGCCGGGTGGCGGGGTGGCGGCGGGGGGAGTCCCTGGAGGGCCCGGGCCGCGCTGACCTCGCGTCCCTCCGCAGGAGATTCCCCGGAGCACGCTGGACTCGTTCATGCAGCCGTTCCAGAGCACACTGTGGCTGCTGGTGGGGCTGTCGGTGCACGTGGTGGCCGTGATGCTGTACCTGCTGGACCGCTTCAGGTGAGCGCGACCCGGGGCTCAGACACCTCCATCTGCGGGGCGCGGAGCCGGCCAGGGGCGGGGCAGGGCCGCCTCTCCCGCCCTCTCTCCCGCCCGCCCTCTGCGCCCCGCAGCCCCTTCGGCCGGTTCAAGGTGAACAGCGAGGAGGAGGAGGAGGACGCACTGACCCTGTCCTCGGCCATGTGGTTCTCCTGGGGCGTCCTGCTCAACTCCGGCATCGGGGAAGGTAAGGCCCCGCCCGGCCCGCCTGGTCCCGCCTCGGCCCTCTAGGGTCTGACAGAGCCCCCCGCCCGCCCACAGGCGCCCCCAGAAGCTTCTCAGCGCGCATCCTGGGCATGGTGTGGGCCGGCTTTGCCATGATCATCGTGGCCTCCTACACCGCCAACCTGGCGGCCTTCCTGGTGCTGGACCGGCCGGAGGAGCGCATCACGGGCATCAACGACCCTCGGGTGAGGCCTGGCCGGGCTGGGGGAGGGAATGCGAGGTGAGCTGGGGTCGGCCTCGGTTAGGGGCCTGGGGAGCCGCCGCCGCGATCCCTGCCCTCCGACCCTGCAGCTGAGGAACCCCTCGGACAAGTTTATCTACGCCACGGTGAAGCAGAGCTCCGTGGATATCTACTTCCGGCGCCAGGTGGAGCTGAGCACCATGTACCGGCATATGGAGAAGCACAACTACGAGAGTGCGGCGGAGGCCATCCAGGCCGTGAGAGACAAGTGAGGCGCGGGCGGCCACCCTGGCGGGGCGGGACAGGTGCGGGGAGGGGGAGGGTGGCCTCCACCGGGCAGGAGAGCGTCCGGGCCGGG | GAGCAGATGGGGGACAGCAGGCAGACCTCAGCTTCAGCACTCGCTGTCCCCAGTCCTGGTCCTCCACACCCCTCATCCCTCCTCCAGCCTGCATTGCTCTTGATGGGACCGGGTCAAACTGTCCTCTTCCACCGTGTGGGACAGCCCTTCCTGACTCCCCTGGGCCTCTGAGAGCCTCTGCCCTCGCCGGCTTCCTCCTCCAGAACATCTTTCCCTTGGCTCCCTACTCCAGGGTGCTCTCCTGGCCATTCCTCCCCGGGCAGAGCCACACTACCCCCACTCCACACACACTCCAGTCCTGGTAGCATCACAGACCACCAAAGGCAAGGACCTCACAGGCGACACGCCCACCAACCTTCTCTCGGTCATTCCAAGCCCTCAAATGTCTCTTGACCCTGTCTGTTTTCTGAGCCCACCCCTGAAGCTTGGTGTCAGCCCCTGTGACCTCTCACCCAGGCTCCCTCCCCTGCTCTGCACCGGCCCCTGTGGCCTCTCACCCAAGCTCCCTTCCCTGCTCTGCAGACAGGGTGGGGTTTTCCAGTGCCAGTGTGGGTTTCATTGCAGCCCAGACACCTCACACTGAAAAGTCTGAAAGCAGCGGTCAAACGCTAATGGCCAAAAGGCCCCATCTAGGCTGTGAGATGGAGATGGCTTTTTACAAATTTGTTTCTGGCCTCACTAATTTTTTAAAAATACTAGCATATATATTACCTGTATAACAGGAAAATGTAATGAAAGTTTTATAAAGCAAATCAACTTCTTCAATGGCTCCTGATTCCCCTGGGGATAAAAGACAAAATGCTGCCTGGAGGCTGAGGGTGGGCGGGCCTGCCCCCCTCTCAGGCTCACCCTGCCTAGGACATGCCGGGAGGGTGCCTCTCCCACCACCCCCACGCCTCCCTGCCTTTGCAGTTCTGGACTGCAGACTCCTCTGCTCCACCTGCCCTCAGGCACCTGCTTGATCCCTGCCCACCTTGAGGGCTCAGCTCTGACACCATCTCCCCTCACAGTTCTGGCAGTGTGCTATGCTCTATTCCAGCCCCCTGTGCCCCAGATCCCTTCCCCACCCCCATGCCATGGTCCCTTGAAGGACAGACAGGAGGGCGAGCCCAAGCAGGAGTGTGGGTCGAAGAGGCCACGGCGCGGTGGAGCACGTACACACGGGCAAGAGAAAGGAGCCAGAGACCTACATTCAAAGCCTGAGGGCTTCGGGACTGGGGGCCGGGACAGGCAGTGCGCCGGGATGAAGGGAGGCACGGGTGGGTGGCCCCACGGGTCCCAGGTCCTGTGCAGGTGCAGGGTCGGCTTTGTGGACATGCCCCTGTCCTCGTGGCACAGCAGGGTGGGGGTCAGCCTGCAGGCTGGGCTGTTTCTCACCCCAGGAAGATGCCTGGCATACACGGGACATCAGCGGCTCCTCTGCTGGAGGGAATCATGTCTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGGTCTCCGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTCAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAAGGGTCCAGCTCTCCAGGAGTCTTTTCTGAGCCCCCAGCCCCCACCCCCCCGGGGCTGCAGGCAGACGATGCTGACGGTGGCTGGGGAGGACGTGTCCTGAACACTTGGGCTCGTGAAGAAGCTCCAGAGAGGGGCAGTGGCCGGCGGCGCAGGGCGGGGGGTGTGAGGGGTGCGTCGGGGATTAAGAGGGGCGCCAGGGGAGGCTGGGAGCTGAGAAGAGACTGCCGCCCTGGGCAGCCTTAGGTCGGTGGTCCAGGCTGGGTCTCCCCTTCCCCCCAGATTGTGACGATCCACCAGGAGCCCTTCGTGTACGTCAAGCCCACGCTGAGTGATGGGACATGCAAGGAGGAGTTCACAGTCAACGGCGACCCAGTCAAGAAGGTGATCTGCACCGGGCCCAACGACACGTCGCCGGGCAGCCGTGAGTGCGCGGGGCAGGGCGCGGGGCGCGGGGCAGGGCGCGGGGCGTGGGGCGGTCTGGAGCCCAGCAGTTACCGCCCGCACCTACCCAGCCCGCCACACGGTGCCTCAGTGTTGCTACGGCTTTTGCATCGACCTGCTCATCAAGCTGGCACGGACCATGAACTTCACCTACGAGGTGCACCTGGTGGCAGATGGCAAGTTCGGCACACAGGAGCGGGTAGGCTGGACGGCGGGGGTGGGGACCAGCGTGAGAGGGGCCTGCAGGCGCGGTCGGAGTGGGTGGGGCATGGAGTAGGCGGGGCTTGCAGATGGTGGGGGGTCCTGGGGTGAGTGGGGCATGGAGTGAGCGGAGCCTGCGGGCTGGGTCCTGGCGTGGGTAAAGCATGGGGTGGGCGGGGCCTGAGGGCTGGGTGGGGCCTGACATGGGAGGGGCCTGACGTGGGGGTCGGAGTGGGTGGGGCACGGAGTGGGCAGGGCCTGCAGGCGGGGGTCTGGAGTGGGCGGGACGTGGAGTGGGCGGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGGGCCTGACTATTCTGGTCAAGAAGGTGGGCAGGGGCCGGGTGGCGGGGTGGCGGCGGGGGGAGTCCCTGGAGGGCCCGGGCCGCGCTGACCTCGCGTCCCTCCGCAGGAGATTCCCCGGAGCACGCTGGACTCGTTCATGCAGCCGTTCCAGAGCACACTGTGGCTGCTGGTGGGGCTGTCGGTGCACGTGGTGGCCGTGATGCTGTACCTGCTGGACCGCTTCAGGTGAGCGCGACCCGGGGCTCAGACACCTCCATCTGCGGGGCGCGGAGCCGGCCAGGGGCGGGGCAGGGCCGCCTCTCCCGCCCTCTCTCCCGCCCGCCCTCTGCGCCCCGCAGCCCCTTCGGCCGGTTCAAGGTGAACAGCGAGGAGGAGGAGGAGGACGCACTGACCCTGTCCTCGGCCATGTGGTTCTCCTGGGGCGTCCTGCTCAACTCCGGCATCGGGGAAGGTAAGGCCCCGCCCGGCCCGCCTGGTCCCGCCTCGGCCCTCTAGGGTCTGACAGAGCCCCCCGCCCGCCCACAGGCGCCCCCAGAAGCTTCTCAGCGCGCATCCTGGGCATGGTGTGGGCCGGCTTTGCCATGATCATCGTGGCCTCCTACACCGCCAACCTGGCGGCCTTCCTGGTGCTGGACCGGCCGGAGGAGCGCATCACGGGCATCAACGACCCTCGGGTGAGGCCTGGCCGGGCTGGGGGAGGGAATGCGAGGTGAGCTGGGGTCGGCCTCGGTTAGGGGCCTGGGGAGCCGCCGCCGCGATCCCTGCCCTCCGACCCTGCAGCTGAGGAACCCCTCGGACAAGTTTATCTACGCCACGGTGAAGCAGAGCTCCGTGGATATCTACTTCCGGCGCCAGGTGGAGCTGAGCACCATGTACCGGCATATGGAGAAGCACAACTACGAGAGTGCGGCGGAGGCCATCCAGGCCGTGAGAGACAAGTGAGGCGCGGGCGGCCACCCTGGCGGGGCGGGACAGGTGCGGGGAGGGGGAGGGTGGCCTCCACCGGGCAGGAGAGCGTCCGGGCCGGGN | benign | 156,267 |
Considering the variant on chromosome 9, location 137161271, involving gene GRIN1 (glutamate ionotropic receptor NMDA type subunit 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | ACTCCAGGGTGCTCTCCTGGCCATTCCTCCCCGGGCAGAGCCACACTACCCCCACTCCACACACACTCCAGTCCTGGTAGCATCACAGACCACCAAAGGCAAGGACCTCACAGGCGACACGCCCACCAACCTTCTCTCGGTCATTCCAAGCCCTCAAATGTCTCTTGACCCTGTCTGTTTTCTGAGCCCACCCCTGAAGCTTGGTGTCAGCCCCTGTGACCTCTCACCCAGGCTCCCTCCCCTGCTCTGCACCGGCCCCTGTGGCCTCTCACCCAAGCTCCCTTCCCTGCTCTGCAGACAGGGTGGGGTTTTCCAGTGCCAGTGTGGGTTTCATTGCAGCCCAGACACCTCACACTGAAAAGTCTGAAAGCAGCGGTCAAACGCTAATGGCCAAAAGGCCCCATCTAGGCTGTGAGATGGAGATGGCTTTTTACAAATTTGTTTCTGGCCTCACTAATTTTTTAAAAATACTAGCATATATATTACCTGTATAACAGGAAAATGTAATGAAAGTTTTATAAAGCAAATCAACTTCTTCAATGGCTCCTGATTCCCCTGGGGATAAAAGACAAAATGCTGCCTGGAGGCTGAGGGTGGGCGGGCCTGCCCCCCTCTCAGGCTCACCCTGCCTAGGACATGCCGGGAGGGTGCCTCTCCCACCACCCCCACGCCTCCCTGCCTTTGCAGTTCTGGACTGCAGACTCCTCTGCTCCACCTGCCCTCAGGCACCTGCTTGATCCCTGCCCACCTTGAGGGCTCAGCTCTGACACCATCTCCCCTCACAGTTCTGGCAGTGTGCTATGCTCTATTCCAGCCCCCTGTGCCCCAGATCCCTTCCCCACCCCCATGCCATGGTCCCTTGAAGGACAGACAGGAGGGCGAGCCCAAGCAGGAGTGTGGGTCGAAGAGGCCACGGCGCGGTGGAGCACGTACACACGGGCAAGAGAAAGGAGCCAGAGACCTACATTCAAAGCCTGAGGGCTTCGGGACTGGGGGCCGGGACAGGCAGTGCGCCGGGATGAAGGGAGGCACGGGTGGGTGGCCCCACGGGTCCCAGGTCCTGTGCAGGTGCAGGGTCGGCTTTGTGGACATGCCCCTGTCCTCGTGGCACAGCAGGGTGGGGGTCAGCCTGCAGGCTGGGCTGTTTCTCACCCCAGGAAGATGCCTGGCATACACGGGACATCAGCGGCTCCTCTGCTGGAGGGAATCATGTCTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGGTCTCCGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTCAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAAGGGTCCAGCTCTCCAGGAGTCTTTTCTGAGCCCCCAGCCCCCACCCCCCCGGGGCTGCAGGCAGACGATGCTGACGGTGGCTGGGGAGGACGTGTCCTGAACACTTGGGCTCGTGAAGAAGCTCCAGAGAGGGGCAGTGGCCGGCGGCGCAGGGCGGGGGGTGTGAGGGGTGCGTCGGGGATTAAGAGGGGCGCCAGGGGAGGCTGGGAGCTGAGAAGAGACTGCCGCCCTGGGCAGCCTTAGGTCGGTGGTCCAGGCTGGGTCTCCCCTTCCCCCCCAGATTGTGACGATCCACCAGGAGCCCTTCGTGTACGTCAAGCCCACGCTGAGTGATGGGACATGCAAGGAGGAGTTCACAGTCAACGGCGACCCAGTCAAGAAGGTGATCTGCACCGGGCCCAACGACACGTCGCCGGGCAGCCGTGAGTGCGCGGGGCAGGGCGCGGGGCGCGGGGCAGGGCGCGGGGCGTGGGGCGGTCTGGAGCCCAGCAGTTACCGCCCGCACCTACCCAGCCCGCCACACGGTGCCTCAGTGTTGCTACGGCTTTTGCATCGACCTGCTCATCAAGCTGGCACGGACCATGAACTTCACCTACGAGGTGCACCTGGTGGCAGATGGCAAGTTCGGCACACAGGAGCGGGTAGGCTGGACGGCGGGGGTGGGGACCAGCGTGAGAGGGGCCTGCAGGCGCGGTCGGAGTGGGTGGGGCATGGAGTAGGCGGGGCTTGCAGATGGTGGGGGGTCCTGGGGTGAGTGGGGCATGGAGTGAGCGGAGCCTGCGGGCTGGGTCCTGGCGTGGGTAAAGCATGGGGTGGGCGGGGCCTGAGGGCTGGGTGGGGCCTGACATGGGAGGGGCCTGACGTGGGGGTCGGAGTGGGTGGGGCACGGAGTGGGCAGGGCCTGCAGGCGGGGGTCTGGAGTGGGCGGGACGTGGAGTGGGCGGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGGGCCTGACTATTCTGGTCAAGAAGGTGGGCAGGGGCCGGGTGGCGGGGTGGCGGCGGGGGGAGTCCCTGGAGGGCCCGGGCCGCGCTGACCTCGCGTCCCTCCGCAGGAGATTCCCCGGAGCACGCTGGACTCGTTCATGCAGCCGTTCCAGAGCACACTGTGGCTGCTGGTGGGGCTGTCGGTGCACGTGGTGGCCGTGATGCTGTACCTGCTGGACCGCTTCAGGTGAGCGCGACCCGGGGCTCAGACACCTCCATCTGCGGGGCGCGGAGCCGGCCAGGGGCGGGGCAGGGCCGCCTCTCCCGCCCTCTCTCCCGCCCGCCCTCTGCGCCCCGCAGCCCCTTCGGCCGGTTCAAGGTGAACAGCGAGGAGGAGGAGGAGGACGCACTGACCCTGTCCTCGGCCATGTGGTTCTCCTGGGGCGTCCTGCTCAACTCCGGCATCGGGGAAGGTAAGGCCCCGCCCGGCCCGCCTGGTCCCGCCTCGGCCCTCTAGGGTCTGACAGAGCCCCCCGCCCGCCCACAGGCGCCCCCAGAAGCTTCTCAGCGCGCATCCTGGGCATGGTGTGGGCCGGCTTTGCCATGATCATCGTGGCCTCCTACACCGCCAACCTGGCGGCCTTCCTGGTGCTGGACCGGCCGGAGGAGCGCATCACGGGCATCAACGACCCTCGGGTGAGGCCTGGCCGGGCTGGGGGAGGGAATGCGAGGTGAGCTGGGGTCGGCCTCGGTTAGGGGCCTGGGGAGCCGCCGCCGCGATCCCTGCCCTCCGACCCTGCAGCTGAGGAACCCCTCGGACAAGTTTATCTACGCCACGGTGAAGCAGAGCTCCGTGGATATCTACTTCCGGCGCCAGGTGGAGCTGAGCACCATGTACCGGCATATGGAGAAGCACAACTACGAGAGTGCGGCGGAGGCCATCCAGGCCGTGAGAGACAAGTGAGGCGCGGGCGGCCACCCTGGCGGGGCGGGACAGGTGCGGGGAGGGGGAGGGTGGCCTCCACCGGGCAGGAGAGCGTCCGGGCCGGGCACCCCGGAGGGCGCGGGCGTGGGGCTTCCAGGCTGGCAGGACCAAGGCCCCCGTGACTCCGCCTCTGCCGGCAGCAAGCTGCATGCCTTCATCTGGGACTCGGCGGTGCTGGAGTTCGAGGCCTCGCAGAAGTGCGACCTGGTGACGACTGGAGAGCTGTTTTTCCGCTCGGGCTTCGGCATAGGCATGCGCAAAGACAGCCCCTGGAAGCAGAACGTCTCCCT | ACTCCAGGGTGCTCTCCTGGCCATTCCTCCCCGGGCAGAGCCACACTACCCCCACTCCACACACACTCCAGTCCTGGTAGCATCACAGACCACCAAAGGCAAGGACCTCACAGGCGACACGCCCACCAACCTTCTCTCGGTCATTCCAAGCCCTCAAATGTCTCTTGACCCTGTCTGTTTTCTGAGCCCACCCCTGAAGCTTGGTGTCAGCCCCTGTGACCTCTCACCCAGGCTCCCTCCCCTGCTCTGCACCGGCCCCTGTGGCCTCTCACCCAAGCTCCCTTCCCTGCTCTGCAGACAGGGTGGGGTTTTCCAGTGCCAGTGTGGGTTTCATTGCAGCCCAGACACCTCACACTGAAAAGTCTGAAAGCAGCGGTCAAACGCTAATGGCCAAAAGGCCCCATCTAGGCTGTGAGATGGAGATGGCTTTTTACAAATTTGTTTCTGGCCTCACTAATTTTTTAAAAATACTAGCATATATATTACCTGTATAACAGGAAAATGTAATGAAAGTTTTATAAAGCAAATCAACTTCTTCAATGGCTCCTGATTCCCCTGGGGATAAAAGACAAAATGCTGCCTGGAGGCTGAGGGTGGGCGGGCCTGCCCCCCTCTCAGGCTCACCCTGCCTAGGACATGCCGGGAGGGTGCCTCTCCCACCACCCCCACGCCTCCCTGCCTTTGCAGTTCTGGACTGCAGACTCCTCTGCTCCACCTGCCCTCAGGCACCTGCTTGATCCCTGCCCACCTTGAGGGCTCAGCTCTGACACCATCTCCCCTCACAGTTCTGGCAGTGTGCTATGCTCTATTCCAGCCCCCTGTGCCCCAGATCCCTTCCCCACCCCCATGCCATGGTCCCTTGAAGGACAGACAGGAGGGCGAGCCCAAGCAGGAGTGTGGGTCGAAGAGGCCACGGCGCGGTGGAGCACGTACACACGGGCAAGAGAAAGGAGCCAGAGACCTACATTCAAAGCCTGAGGGCTTCGGGACTGGGGGCCGGGACAGGCAGTGCGCCGGGATGAAGGGAGGCACGGGTGGGTGGCCCCACGGGTCCCAGGTCCTGTGCAGGTGCAGGGTCGGCTTTGTGGACATGCCCCTGTCCTCGTGGCACAGCAGGGTGGGGGTCAGCCTGCAGGCTGGGCTGTTTCTCACCCCAGGAAGATGCCTGGCATACACGGGACATCAGCGGCTCCTCTGCTGGAGGGAATCATGTCTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGGTCTCCGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTCAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAAGGGTCCAGCTCTCCAGGAGTCTTTTCTGAGCCCCCAGCCCCCACCCCCCCGGGGCTGCAGGCAGACGATGCTGACGGTGGCTGGGGAGGACGTGTCCTGAACACTTGGGCTCGTGAAGAAGCTCCAGAGAGGGGCAGTGGCCGGCGGCGCAGGGCGGGGGGTGTGAGGGGTGCGTCGGGGATTAAGAGGGGCGCCAGGGGAGGCTGGGAGCTGAGAAGAGACTGCCGCCCTGGGCAGCCTTAGGTCGGTGGTCCAGGCTGGGTCTCCCCTTCCCCCCCAGATTGTGACGATCCACCAGGAGCCCTTCGTGTACGTCAAGCCCACGCTGAGTGATGGGACATGCAAGGAGGAGTTCACAGTCAACGGCGACCCAGTCAAGAAGGTGATCTGCACCGGGCCCAACGACACGTCGCCGGGCAGCCGTGAGTGCGCGGGGCAGGGCGCGGGGCGCGGGGCAGGGCGCGGGGCGTGGGGCGGTCTGGAGCCCAGCAGTTACGTACGCCCGCACCTACCCAGCCCGCCACACGGTGCCTCAGTGTTGCTACGGCTTTTGCATCGACCTGCTCATCAAGCTGGCACGGACCATGAACTTCACCTACGAGGTGCACCTGGTGGCAGATGGCAAGTTCGGCACACAGGAGCGGGTAGGCTGGACGGCGGGGGTGGGGACCAGCGTGAGAGGGGCCTGCAGGCGCGGTCGGAGTGGGTGGGGCATGGAGTAGGCGGGGCTTGCAGATGGTGGGGGGTCCTGGGGTGAGTGGGGCATGGAGTGAGCGGAGCCTGCGGGCTGGGTCCTGGCGTGGGTAAAGCATGGGGTGGGCGGGGCCTGAGGGCTGGGTGGGGCCTGACATGGGAGGGGCCTGACGTGGGGGTCGGAGTGGGTGGGGCACGGAGTGGGCAGGGCCTGCAGGCGGGGGTCTGGAGTGGGCGGGACGTGGAGTGGGCGGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGGGCCTGACTATTCTGGTCAAGAAGGTGGGCAGGGGCCGGGTGGCGGGGTGGCGGCGGGGGGAGTCCCTGGAGGGCCCGGGCCGCGCTGACCTCGCGTCCCTCCGCAGGAGATTCCCCGGAGCACGCTGGACTCGTTCATGCAGCCGTTCCAGAGCACACTGTGGCTGCTGGTGGGGCTGTCGGTGCACGTGGTGGCCGTGATGCTGTACCTGCTGGACCGCTTCAGGTGAGCGCGACCCGGGGCTCAGACACCTCCATCTGCGGGGCGCGGAGCCGGCCAGGGGCGGGGCAGGGCCGCCTCTCCCGCCCTCTCTCCCGCCCGCCCTCTGCGCCCCGCAGCCCCTTCGGCCGGTTCAAGGTGAACAGCGAGGAGGAGGAGGAGGACGCACTGACCCTGTCCTCGGCCATGTGGTTCTCCTGGGGCGTCCTGCTCAACTCCGGCATCGGGGAAGGTAAGGCCCCGCCCGGCCCGCCTGGTCCCGCCTCGGCCCTCTAGGGTCTGACAGAGCCCCCCGCCCGCCCACAGGCGCCCCCAGAAGCTTCTCAGCGCGCATCCTGGGCATGGTGTGGGCCGGCTTTGCCATGATCATCGTGGCCTCCTACACCGCCAACCTGGCGGCCTTCCTGGTGCTGGACCGGCCGGAGGAGCGCATCACGGGCATCAACGACCCTCGGGTGAGGCCTGGCCGGGCTGGGGGAGGGAATGCGAGGTGAGCTGGGGTCGGCCTCGGTTAGGGGCCTGGGGAGCCGCCGCCGCGATCCCTGCCCTCCGACCCTGCAGCTGAGGAACCCCTCGGACAAGTTTATCTACGCCACGGTGAAGCAGAGCTCCGTGGATATCTACTTCCGGCGCCAGGTGGAGCTGAGCACCATGTACCGGCATATGGAGAAGCACAACTACGAGAGTGCGGCGGAGGCCATCCAGGCCGTGAGAGACAAGTGAGGCGCGGGCGGCCACCCTGGCGGGGCGGGACAGGTGCGGGGAGGGGGAGGGTGGCCTCCACCGGGCAGGAGAGCGTCCGGGCCGGGCACCCCGGAGGGCGCGGGCGTGGGGCTTCCAGGCTGGCAGGACCAAGGCCCCCGTGACTCCGCCTCTGCCGGCAGCAAGCTGCATGCCTTCATCTGGGACTCGGCGGTGCTGGAGTTCGAGGCCTCGCAGAAGTGCGACCTGGTGACGACTGGAGAGCTGTTTTTCCGCTCGGGCTTCGGCATAGGCATGCGCAAAGACAGCCCCTGGAAGCAGAACGTCTC | benign | 156,272 |
Regarding the variant found on chromosome 9 at position 137162100 in gene GRIN1 (glutamate ionotropic receptor NMDA type subunit 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | ATCCCTTCCCCACCCCCATGCCATGGTCCCTTGAAGGACAGACAGGAGGGCGAGCCCAAGCAGGAGTGTGGGTCGAAGAGGCCACGGCGCGGTGGAGCACGTACACACGGGCAAGAGAAAGGAGCCAGAGACCTACATTCAAAGCCTGAGGGCTTCGGGACTGGGGGCCGGGACAGGCAGTGCGCCGGGATGAAGGGAGGCACGGGTGGGTGGCCCCACGGGTCCCAGGTCCTGTGCAGGTGCAGGGTCGGCTTTGTGGACATGCCCCTGTCCTCGTGGCACAGCAGGGTGGGGGTCAGCCTGCAGGCTGGGCTGTTTCTCACCCCAGGAAGATGCCTGGCATACACGGGACATCAGCGGCTCCTCTGCTGGAGGGAATCATGTCTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGGTCTCCGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTCAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAAGGGTCCAGCTCTCCAGGAGTCTTTTCTGAGCCCCCAGCCCCCACCCCCCCGGGGCTGCAGGCAGACGATGCTGACGGTGGCTGGGGAGGACGTGTCCTGAACACTTGGGCTCGTGAAGAAGCTCCAGAGAGGGGCAGTGGCCGGCGGCGCAGGGCGGGGGGTGTGAGGGGTGCGTCGGGGATTAAGAGGGGCGCCAGGGGAGGCTGGGAGCTGAGAAGAGACTGCCGCCCTGGGCAGCCTTAGGTCGGTGGTCCAGGCTGGGTCTCCCCTTCCCCCCCAGATTGTGACGATCCACCAGGAGCCCTTCGTGTACGTCAAGCCCACGCTGAGTGATGGGACATGCAAGGAGGAGTTCACAGTCAACGGCGACCCAGTCAAGAAGGTGATCTGCACCGGGCCCAACGACACGTCGCCGGGCAGCCGTGAGTGCGCGGGGCAGGGCGCGGGGCGCGGGGCAGGGCGCGGGGCGTGGGGCGGTCTGGAGCCCAGCAGTTACCGCCCGCACCTACCCAGCCCGCCACACGGTGCCTCAGTGTTGCTACGGCTTTTGCATCGACCTGCTCATCAAGCTGGCACGGACCATGAACTTCACCTACGAGGTGCACCTGGTGGCAGATGGCAAGTTCGGCACACAGGAGCGGGTAGGCTGGACGGCGGGGGTGGGGACCAGCGTGAGAGGGGCCTGCAGGCGCGGTCGGAGTGGGTGGGGCATGGAGTAGGCGGGGCTTGCAGATGGTGGGGGGTCCTGGGGTGAGTGGGGCATGGAGTGAGCGGAGCCTGCGGGCTGGGTCCTGGCGTGGGTAAAGCATGGGGTGGGCGGGGCCTGAGGGCTGGGTGGGGCCTGACATGGGAGGGGCCTGACGTGGGGGTCGGAGTGGGTGGGGCACGGAGTGGGCAGGGCCTGCAGGCGGGGGTCTGGAGTGGGCGGGACGTGGAGTGGGCGGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGGGCCTGACTATTCTGGTCAAGAAGGTGGGCAGGGGCCGGGTGGCGGGGTGGCGGCGGGGGGAGTCCCTGGAGGGCCCGGGCCGCGCTGACCTCGCGTCCCTCCGCAGGAGATTCCCCGGAGCACGCTGGACTCGTTCATGCAGCCGTTCCAGAGCACACTGTGGCTGCTGGTGGGGCTGTCGGTGCACGTGGTGGCCGTGATGCTGTACCTGCTGGACCGCTTCAGGTGAGCGCGACCCGGGGCTCAGACACCTCCATCTGCGGGGCGCGGAGCCGGCCAGGGGCGGGGCAGGGCCGCCTCTCCCGCCCTCTCTCCCGCCCGCCCTCTGCGCCCCGCAGCCCCTTCGGCCGGTTCAAGGTGAACAGCGAGGAGGAGGAGGAGGACGCACTGACCCTGTCCTCGGCCATGTGGTTCTCCTGGGGCGTCCTGCTCAACTCCGGCATCGGGGAAGGTAAGGCCCCGCCCGGCCCGCCTGGTCCCGCCTCGGCCCTCTAGGGTCTGACAGAGCCCCCCGCCCGCCCACAGGCGCCCCCAGAAGCTTCTCAGCGCGCATCCTGGGCATGGTGTGGGCCGGCTTTGCCATGATCATCGTGGCCTCCTACACCGCCAACCTGGCGGCCTTCCTGGTGCTGGACCGGCCGGAGGAGCGCATCACGGGCATCAACGACCCTCGGGTGAGGCCTGGCCGGGCTGGGGGAGGGAATGCGAGGTGAGCTGGGGTCGGCCTCGGTTAGGGGCCTGGGGAGCCGCCGCCGCGATCCCTGCCCTCCGACCCTGCAGCTGAGGAACCCCTCGGACAAGTTTATCTACGCCACGGTGAAGCAGAGCTCCGTGGATATCTACTTCCGGCGCCAGGTGGAGCTGAGCACCATGTACCGGCATATGGAGAAGCACAACTACGAGAGTGCGGCGGAGGCCATCCAGGCCGTGAGAGACAAGTGAGGCGCGGGCGGCCACCCTGGCGGGGCGGGACAGGTGCGGGGAGGGGGAGGGTGGCCTCCACCGGGCAGGAGAGCGTCCGGGCCGGGCACCCCGGAGGGCGCGGGCGTGGGGCTTCCAGGCTGGCAGGACCAAGGCCCCCGTGACTCCGCCTCTGCCGGCAGCAAGCTGCATGCCTTCATCTGGGACTCGGCGGTGCTGGAGTTCGAGGCCTCGCAGAAGTGCGACCTGGTGACGACTGGAGAGCTGTTTTTCCGCTCGGGCTTCGGCATAGGCATGCGCAAAGACAGCCCCTGGAAGCAGAACGTCTCCCTGTCCATCCTCAAGTGAGTGTCCGTGCGCCCGCGTCCCTCCTCCGCCCCTCTCCGCCAGAGGTGGACGCCCTCCCCAGTGCCAGACCACTCCGAGGCCACCACTGATTTCCCACCCAGGCCGGGCGCTGCCCACTCCACGCCGCACCCTACCCCGCAGGCCCCGCCCCGGCCCCGCCCCCAGCTTGCTCCTTCCCGTCCTGGGCCCCGCCTCACTGCAGGCTCACTTGTTCCCACCGCCAGGTCCCACGAGAATGGCTTCATGGAAGACCTGGACAAGACGTGGGTTCGGTATCAGGAATGTGACTCGCGCAGCAACGCCCCTGCGACCCTTACTTTTGAGAACATGGCCGGTGCGTTCTCCTTCATCCATTCTCGGGTGGGTTCTCCGTGGGCTGCGGCCTCCCTGGCCAGCAACTGAGGCTCTGGGTCCCGGCACACAGGGGTCTTCATGCTGGTAGCTGGGGGCATCGTGGCCGGGATCTTCCTGATTTTCATCGAGATTGCCTACAAGCGGCACAAGGATGCTCGCCGGAAGCAGATGCAGCTGGCCTTTGCCGCCGTTAACGTGTGGCGGAAGAACCTGCAGGTAGGGCAGGCCACCCTCCGAGGCCTGGTGCCCAGGGCCCGGCCTGGCCACGGCCCTCCTCCATCCCCGAAGGCCGTGGCACTGGCTCTGGCTCTGGTGGGCAGGACTGGAGCTAGGAGCCATGGCCAGGGGCAGTGGTGAGTGCTCCCAGGGCACGGGGGCAGCACCGGTGGGGGGCTGCCTGCAGGTGGCTGCCCACTGCAAAGCCGGGGCCGAGGGAGGCCACGCACCCTGCTCCAAGCC | ATCCCTTCCCCACCCCCATGCCATGGTCCCTTGAAGGACAGACAGGAGGGCGAGCCCAAGCAGGAGTGTGGGTCGAAGAGGCCACGGCGCGGTGGAGCACGTACACACGGGCAAGAGAAAGGAGCCAGAGACCTACATTCAAAGCCTGAGGGCTTCGGGACTGGGGGCCGGGACAGGCAGTGCGCCGGGATGAAGGGAGGCACGGGTGGGTGGCCCCACGGGTCCCAGGTCCTGTGCAGGTGCAGGGTCGGCTTTGTGGACATGCCCCTGTCCTCGTGGCACAGCAGGGTGGGGGTCAGCCTGCAGGCTGGGCTGTTTCTCACCCCAGGAAGATGCCTGGCATACACGGGACATCAGCGGCTCCTCTGCTGGAGGGAATCATGTCTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGGTCTCCGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTCAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAAGGGTCCAGCTCTCCAGGAGTCTTTTCTGAGCCCCCAGCCCCCACCCCCCCGGGGCTGCAGGCAGACGATGCTGACGGTGGCTGGGGAGGACGTGTCCTGAACACTTGGGCTCGTGAAGAAGCTCCAGAGAGGGGCAGTGGCCGGCGGCGCAGGGCGGGGGGTGTGAGGGGTGCGTCGGGGATTAAGAGGGGCGCCAGGGGAGGCTGGGAGCTGAGAAGAGACTGCCGCCCTGGGCAGCCTTAGGTCGGTGGTCCAGGCTGGGTCTCCCCTTCCCCCCCAGATTGTGACGATCCACCAGGAGCCCTTCGTGTACGTCAAGCCCACGCTGAGTGATGGGACATGCAAGGAGGAGTTCACAGTCAACGGCGACCCAGTCAAGAAGGTGATCTGCACCGGGCCCAACGACACGTCGCCGGGCAGCCGTGAGTGCGCGGGGCAGGGCGCGGGGCGCGGGGCAGGGCGCGGGGCGTGGGGCGGTCTGGAGCCCAGCAGTTACCGCCCGCACCTACCCAGCCCGCCACACGGTGCCTCAGTGTTGCTACGGCTTTTGCATCGACCTGCTCATCAAGCTGGCACGGACCATGAACTTCACCTACGAGGTGCACCTGGTGGCAGATGGCAAGTTCGGCACACAGGAGCGGGTAGGCTGGACGGCGGGGGTGGGGACCAGCGTGAGAGGGGCCTGCAGGCGCGGTCGGAGTGGGTGGGGCATGGAGTAGGCGGGGCTTGCAGATGGTGGGGGGTCCTGGGGTGAGTGGGGCATGGAGTGAGCGGAGCCTGCGGGCTGGGTCCTGGCGTGGGTAAAGCATGGGGTGGGCGGGGCCTGAGGGCTGGGTGGGGCCTGACATGGGAGGGGCCTGACGTGGGGGTCGGAGTGGGTGGGGCACGGAGTGGGCAGGGCCTGCAGGCGGGGGTCTGGAGTGGGCGGGACGTGGAGTGGGCGGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGGGCCTGACTATTCTGGTCAAGAAGGTGGGCAGGGGCCGGGGTGGCGGCGGGGGGAGTCCCTGGAGGGCCCGGGCCGCGCTGACCTCGCGTCCCTCCGCAGGAGATTCCCCGGAGCACGCTGGACTCGTTCATGCAGCCGTTCCAGAGCACACTGTGGCTGCTGGTGGGGCTGTCGGTGCACGTGGTGGCCGTGATGCTGTACCTGCTGGACCGCTTCAGGTGAGCGCGACCCGGGGCTCAGACACCTCCATCTGCGGGGCGCGGAGCCGGCCAGGGGCGGGGCAGGGCCGCCTCTCCCGCCCTCTCTCCCGCCCGCCCTCTGCGCCCCGCAGCCCCTTCGGCCGGTTCAAGGTGAACAGCGAGGAGGAGGAGGAGGACGCACTGACCCTGTCCTCGGCCATGTGGTTCTCCTGGGGCGTCCTGCTCAACTCCGGCATCGGGGAAGGTAAGGCCCCGCCCGGCCCGCCTGGTCCCGCCTCGGCCCTCTAGGGTCTGACAGAGCCCCCCGCCCGCCCACAGGCGCCCCCAGAAGCTTCTCAGCGCGCATCCTGGGCATGGTGTGGGCCGGCTTTGCCATGATCATCGTGGCCTCCTACACCGCCAACCTGGCGGCCTTCCTGGTGCTGGACCGGCCGGAGGAGCGCATCACGGGCATCAACGACCCTCGGGTGAGGCCTGGCCGGGCTGGGGGAGGGAATGCGAGGTGAGCTGGGGTCGGCCTCGGTTAGGGGCCTGGGGAGCCGCCGCCGCGATCCCTGCCCTCCGACCCTGCAGCTGAGGAACCCCTCGGACAAGTTTATCTACGCCACGGTGAAGCAGAGCTCCGTGGATATCTACTTCCGGCGCCAGGTGGAGCTGAGCACCATGTACCGGCATATGGAGAAGCACAACTACGAGAGTGCGGCGGAGGCCATCCAGGCCGTGAGAGACAAGTGAGGCGCGGGCGGCCACCCTGGCGGGGCGGGACAGGTGCGGGGAGGGGGAGGGTGGCCTCCACCGGGCAGGAGAGCGTCCGGGCCGGGCACCCCGGAGGGCGCGGGCGTGGGGCTTCCAGGCTGGCAGGACCAAGGCCCCCGTGACTCCGCCTCTGCCGGCAGCAAGCTGCATGCCTTCATCTGGGACTCGGCGGTGCTGGAGTTCGAGGCCTCGCAGAAGTGCGACCTGGTGACGACTGGAGAGCTGTTTTTCCGCTCGGGCTTCGGCATAGGCATGCGCAAAGACAGCCCCTGGAAGCAGAACGTCTCCCTGTCCATCCTCAAGTGAGTGTCCGTGCGCCCGCGTCCCTCCTCCGCCCCTCTCCGCCAGAGGTGGACGCCCTCCCCAGTGCCAGACCACTCCGAGGCCACCACTGATTTCCCACCCAGGCCGGGCGCTGCCCACTCCACGCCGCACCCTACCCCGCAGGCCCCGCCCCGGCCCCGCCCCCAGCTTGCTCCTTCCCGTCCTGGGCCCCGCCTCACTGCAGGCTCACTTGTTCCCACCGCCAGGTCCCACGAGAATGGCTTCATGGAAGACCTGGACAAGACGTGGGTTCGGTATCAGGAATGTGACTCGCGCAGCAACGCCCCTGCGACCCTTACTTTTGAGAACATGGCCGGTGCGTTCTCCTTCATCCATTCTCGGGTGGGTTCTCCGTGGGCTGCGGCCTCCCTGGCCAGCAACTGAGGCTCTGGGTCCCGGCACACAGGGGTCTTCATGCTGGTAGCTGGGGGCATCGTGGCCGGGATCTTCCTGATTTTCATCGAGATTGCCTACAAGCGGCACAAGGATGCTCGCCGGAAGCAGATGCAGCTGGCCTTTGCCGCCGTTAACGTGTGGCGGAAGAACCTGCAGGTAGGGCAGGCCACCCTCCGAGGCCTGGTGCCCAGGGCCCGGCCTGGCCACGGCCCTCCTCCATCCCCGAAGGCCGTGGCACTGGCTCTGGCTCTGGTGGGCAGGACTGGAGCTAGGAGCCATGGCCAGGGGCAGTGGTGAGTGCTCCCAGGGCACGGGGGCAGCACCGGTGGGGGGCTGCCTGCAGGTGGCTGCCCACTGCAAAGCCGGGGCCGAGGGAGGCCACGCACCCTGCTCCAAGCCNNNNNNN | benign | 156,287 |
Regarding the variant found on chromosome 9 at position 137192572 in gene TPRN (taperin): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | TGCCCACCCTCCCCAGGCCAGCCCCACCCTGAGCCCTCCCCAGCAGGGCCGCCGGTCCTCTTCCCCTGACTGGCCCACGGCTCACCCTCCTCTCAGGAGCTCTGCTTGCTCGTCCTGTTCTCTGCCACACCCTGGTGGCCAGCATAGGACCCAGCCCAGAGAGACAGCTGGGGATGCCAAGCATATCCAGCAGCTGCCTCAGATTCAGGTCCCTCTCAGCAAGGACTGGGGGGAGTTCACACCCCCCACCCCCGTCGGTTCCTCAGTTGCAAGTTTTGCTTGGCCTGATGACACCACTGCTGCCACCAGGCCCTGCTGCCCACCTTTCCCTGGCCGCACACCAAGCACTGGCCACTTCCATCCTTCCATGTGCCCTGGGGCCTCTGTTTTGTCCCTGCAGCAACCAAGCATGGCCCGAGGACTGGGCCGATTTGGGAGGCATGTGTTGATCCAGAGGGTCCAGAAAAGAGCTGGGCCTAACCCGACCAGGGAAATACACCAAACTCTCCTTCCGCCGGAGTTTGGCCAGACAGCATCTCTTTATCTCTTTGCTCTTAGGTTTGATCCTCCAGGGAGGAAATGGTGCTTGGGTTCCATGGGCTGTAAACAGCCCCAGCTCTGGCCGTCTGAGGCAGGCGCTGCTCCCGGCCTGCCTCATCCTGTGGGTCGGGGGGCACGCCAAGCCCAGCAGAAGACACCGTCCCCTGTGCTGCCCTCATGCTGCCCTTCCCTTGGTCCCTCCCCAGGCTCTGGGCCCCTCAGAGAAGCCACTTCAGGCCCAACAGCTGCAACACTCTCACCCTCCCACCTGAAGTCTAGGCCCCTGACAGCAGGCCTGTCATCCTACCTCCCACAGTGCCAGCTCTGGGAGGCTGGGGTGGAGGGGCAACAGGTTAACAGGCCATGGAAGTTGGGAGGTCAGAGCCTTGGCCACTGGGACATCAAGGAGTGGGGGTACCAGATCGGGGTCACCTCCCACACACCCTGGCATAGACGTGCAAACTGGGGCCCACTGGACCCCATGTGGCCTCTTCCTGCAGAGACCTCCCCCTGCTCCCTTCTCAGCCAAGGACCACGCAGTGGGGACACCAGCAGCCTTGTCCAGTGCTGTTTATTGAGTCCATCATCAGAGGCAGGAAAGACGCCACTCATCACAGAGGGCATGTGGGCTGCGGGCAGGGGCTTAGGGTCCTGCAGAGGACAAGTAGCTGGGACAGCCCTTCACCCCGACACCCCATGGCCACTGTGAGGCAGGCTGAGGAGACAGGACAGGGAATGGCCAGGTGCAGAATCTGCACAGCCCCCTGCCGGGTCGCAGATGGCCACCACCCAGCAGGCCCCTGGCACTCACCCACAGGCAGTTCCCCACCCCACTTCCCCCTTGGACCCTCCCAAATCAGGGCCGGGGAGTGAGACCCAGACCTGGCCCCGATGGCAGGAGGCACCCTAGCTGCTTCCAGGGCCAGGAGGGGTGGGTGGGATACAGTGAGGCCAAACAAGGCAGAAGCGGGTGCAGTAGTCCCTGGCTACTGCCCAGCTTCCGGGACTCCCACAGCTGGGCTCAGCCTTGGTCCTGGCAGTGCTGGGCTCAGAAATACAGGGCTGGCTCGCTGCGGAAGTCCGAGAGGTCATTCTGACTGGCGGGTGTGAGCTGAAAGTGAGAGGACAGAATGTGGACACATGGGCTCGCCCGGGTGTCAGACTCCCCCCAGCGCTCCACTCCCCCGCATCTCACCATGGCCTCCACGGGCGGGGGCTCTGCCTCCCTCGGGGCCTGCTCCAGCGCCTGCTCCTGCCACTTGCTGAAGGCCACAGAGTGCTTCGGGGTGTAGCTGGACAGGCCTGTGAATGGAGGTGCACATGCAGACGTGGACACAGACCAGGCTCCACCCCTCCCAGGCTGCCTGTCCCCCAGGTGGGCACTCACCTGAGCTACCCTCTGGCAGCCGAGAGCTCTCGGGTCTCACGCTGCTCACAAACGTGGCCCGGGGCAGGAAGAGTGCAAAGGGCTTCTCCTCTGAGCCGGATCCCTCTTCCTCCTCTTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCTCCTGCTGGTCCACCTCTTCCTCCTGCTCTAGGGAGCTCTCGGAAGGGTACTCAAATGTGGTCTGCAGGCTTTTGTCGTTGAAGGAGATCTTCATCTGGGAGTGAGAGTCACGTGAACGAGGGCTGAGGGCCCACATGGGCACAGTGATGCCAGGGGCTCAGGTTCAGCCCTCAGGATGAGGCTGACCCAAGTGGGGCGCCAGACACACCATCAACCGTTCCGGGGGCTCCAGGAGGGGGCACAGAGCTCTCCAGCTGGACCCTGCAGGCGTCCATCCCTCCACCCTGGGGGTCAACCTCCCCTCCCCATTCCAGCCAGGGACCAAACGCTGACCAGGACCAGGAGCCCAAAGCCTCTGGGTCCCCAGAAGCCTCTAGACCAGCTCCTGGAGCTACCATCTCAGGCCCCTCCTGCTCTGCTGTCTGGGCAGAGTGCCAGCTGGGGGGAAACTGGGGTGGACACATCCCCTCCCACCAAGCAGCTCTAGAGCAGGAACAGGGTGGAAAAGAGGCTGTCCCCTCAGGGGCCTTGCACTCTAGGCTCCAGGCAGCTCCTGCTGGTGTCTGGGGCCTCTCTCTAAAGCCAAGTTCATGTCCTGGCTTACTGGATGCCTGGACAATCCAGCAGAGCATGGACCCCCCACTGTGAACAGGGGCCTCTGTGAGCCGTCAAGGCCAGGCAGTAGCCTCAGGCACCATCACCCACCTAACATAGTTGAGAGTTGGCCTGCGGCTGTGCAGAGTAGGGGGCTGCCTCCACTGAGCCTGGGTGCCAGCAACCCCAGCAGTGACCCCTTCCTCACCCTGCTGCCCCTCTGGCCCTCGTCCTCCATCCCCACTTCGTAGGCTGCAAGATTTCACATCTGAGCAAATTCTTTCCTTCTCCCAGTGGCCTTGAAGCCCAGGCAGGGCTGCTGGTTCCCAGGGGTAATGGGGGCAGTGGGGACCAATGGTCAGGACTCTCCACCTCCCCTGAACGGGGCTTGCATGGGGCTAAGCTCCCCACAACAGCCGAGCTCCCACTGCTCAGCTGCACTCAGCCCGGCCCCAGTGGTCCCTAATGAATATGAGCGGCCCCCGCTTGCAGCAGATGGAAGCAGCCCTGAGGGAGCTCGAAATATTAAACTCTTCCTGGGCACAGGACACCAGCAGCTCAAGTTCCTCCTCCTCCCCTAGAAGGACCCGGAGGCAGGAGCCGGGCCCCAGGCAGAGAACCACCGCAGCCAGGCACAGGACGAGACGGCCTCTCAGGAGGCAGCCGAGGAGGCCACACAGGGCTGCCAGGACAGGGCCAAGGGCACACACTCTTGCCATCATGCTCTCTCCCACAGCGGCCACACGGCCCACACAGCCAGGTGTACCCTCAGGTCCCTTCTCACCACGAATACCCCCGCCTCCCACAGCTGGGGGGCCACGCTTTGTGCCCAAACCCCCAGCTTCCCCTCTCAGCACAGCTCACACAGAGCCCTGCTGGGCAACTCAGCTGCCTGCTTGCACCCCTACCCCAGGCCCCGGCACCCCAGCCGTCTGCATGGATGAGCGGGGGAGGGGGAGGCCACCTGGGCCAGACAAAACAAGGAGGAAAGCACCCGCTCCTGTCCCTTAACTGCCCTGCCTGTGGCTAGGCCCACCTGGCCCTCCAACGCTCATCCCACAGGAGGCCAGGCAGGGAGAGGCTGGGACAGACCTCACAGGCACCCACCCACTGCCAGCCCACTTGGGGAGGGGGTCACCCGGCCCTCCCAGACTCATGCTTTGGGACAGATACCCCAGGTGGAGGTGCTCAAGGCAGGACAGGGCTGGTGGCTAGAGCTCTCCCACAGCCCCGAAGTCCAGCAGCAAATGGGGTTTCCAGTCGCCCTGGATATGTGGAGCTAACCCAGATGACCCCGAAGCCCTCCAGGCCCAGCCCCCACGGCTGAGAACACAGAAGGGCTGGCTGCCAGGGCCGCGGGATTAGTGCCCTCACTCGTGCACATGACCGGTCCCAGCAGGGGGGCCGCGGGGGCTGGGTGCACATGGG | TGCCCACCCTCCCCAGGCCAGCCCCACCCTGAGCCCTCCCCAGCAGGGCCGCCGGTCCTCTTCCCCTGACTGGCCCACGGCTCACCCTCCTCTCAGGAGCTCTGCTTGCTCGTCCTGTTCTCTGCCACACCCTGGTGGCCAGCATAGGACCCAGCCCAGAGAGACAGCTGGGGATGCCAAGCATATCCAGCAGCTGCCTCAGATTCAGGTCCCTCTCAGCAAGGACTGGGGGGAGTTCACACCCCCCACCCCCGTCGGTTCCTCAGTTGCAAGTTTTGCTTGGCCTGATGACACCACTGCTGCCACCAGGCCCTGCTGCCCACCTTTCCCTGGCCGCACACCAAGCACTGGCCACTTCCATCCTTCCATGTGCCCTGGGGCCTCTGTTTTGTCCCTGCAGCAACCAAGCATGGCCCGAGGACTGGGCCGATTTGGGAGGCATGTGTTGATCCAGAGGGTCCAGAAAAGAGCTGGGCCTAACCCGACCAGGGAAATACACCAAACTCTCCTTCCGCCGGAGTTTGGCCAGACAGCATCTCTTTATCTCTTTGCTCTTAGGTTTGATCCTCCAGGGAGGAAATGGTGCTTGGGTTCCATGGGCTGTAAACAGCCCCAGCTCTGGCCGTCTGAGGCAGGCGCTGCTCCCGGCCTGCCTCATCCTGTGGGTCGGGGGGCACGCCAAGCCCAGCAGAAGACACCGTCCCCTGTGCTGCCCTCATGCTGCCCTTCCCTTGGTCCCTCCCCAGGCTCTGGGCCCCTCAGAGAAGCCACTTCAGGCCCAACAGCTGCAACACTCTCACCCTCCCACCTGAAGTCTAGGCCCCTGACAGCAGGCCTGTCATCCTACCTCCCACAGTGCCAGCTCTGGGAGGCTGGGGTGGAGGGGCAACAGGTTAACAGGCCATGGAAGTTGGGAGGTCAGAGCCTTGGCCACTGGGACATCAAGGAGTGGGGGTACCAGATCGGGGTCACCTCCCACACACCCTGGCATAGACGTGCAAACTGGGGCCCACTGGACCCCATGTGGCCTCTTCCTGCAGAGACCTCCCCCTGCTCCCTTCTCAGCCAAGGACCACGCAGTGGGGACACCAGCAGCCTTGTCCAGTGCTGTTTATTGAGTCCATCATCAGAGGCAGGAAAGACGCCACTCATCACAGAGGGCATGTGGGCTGCGGGCAGGGGCTTAGGGTCCTGCAGAGGACAAGTAGCTGGGACAGCCCTTCACCCCGACACCCCATGGCCACTGTGAGGCAGGCTGAGGAGACAGGACAGGGAATGGCCAGGTGCAGAATCTGCACAGCCCCCTGCCGGGTCGCAGATGGCCACCACCCAGCAGGCCCCTGGCACTCACCCACAGGCAGTTCCCCACCCCACTTCCCCCTTGGACCCTCCCAAATCAGGGCCGGGGAGTGAGACCCAGACCTGGCCCCGATGGCAGGAGGCACCCTAGCTGCTTCCAGGGCCAGGAGGGGTGGGTGGGATACAGTGAGGCCAAACAAGGCAGAAGCGGGTGCAGTAGTCCCTGGCTACTGCCCAGCTTCCGGGACTCCCACAGCTGGGCTCAGCCTTGGTCCTGGCAGTGCTGGGCTCAGAAATACAGGGCTGGCTCGCTGCGGAAGTCCGAGAGGTCATTCTGACTGGCGGGTGTGAGCTGAAAGTGAGAGGACAGAATGTGGACACATGGGCTCGCCCGGGTGTCAGACTCCCCCCAGCGCTCCACTCCCCCGCATCTCACCATGGCCTCCACGGGCGGGGGCTCTGCCTCCCTCGGGGCCTGCTCCAGCGCCTGCTCCTGCCACTTGCTGAAGGCCACAGAGTGCTTCGGGGTGTAGCTGGACAGGCCTGTGAATGGAGGTGCACATGCAGACGTGGACACAGACCAGGCTCCACCCCTCCCAGGCTGCCTGTCCCCCAGGTGGGCACTCACCTGAGCTACCCTCTGGCAGCCGAGAGCTCTCGGGTCTCACGCTGCTCACAAACGTGGCCCGGGGCAGGAAGAGTGCAAAGGGCTTCTCCTCTGAGCCGGATCCCTCTTCCTCCTCTTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTGCTGGTCCACCTCTTCCTCCTGCTCTAGGGAGCTCTCGGAAGGGTACTCAAATGTGGTCTGCAGGCTTTTGTCGTTGAAGGAGATCTTCATCTGGGAGTGAGAGTCACGTGAACGAGGGCTGAGGGCCCACATGGGCACAGTGATGCCAGGGGCTCAGGTTCAGCCCTCAGGATGAGGCTGACCCAAGTGGGGCGCCAGACACACCATCAACCGTTCCGGGGGCTCCAGGAGGGGGCACAGAGCTCTCCAGCTGGACCCTGCAGGCGTCCATCCCTCCACCCTGGGGGTCAACCTCCCCTCCCCATTCCAGCCAGGGACCAAACGCTGACCAGGACCAGGAGCCCAAAGCCTCTGGGTCCCCAGAAGCCTCTAGACCAGCTCCTGGAGCTACCATCTCAGGCCCCTCCTGCTCTGCTGTCTGGGCAGAGTGCCAGCTGGGGGGAAACTGGGGTGGACACATCCCCTCCCACCAAGCAGCTCTAGAGCAGGAACAGGGTGGAAAAGAGGCTGTCCCCTCAGGGGCCTTGCACTCTAGGCTCCAGGCAGCTCCTGCTGGTGTCTGGGGCCTCTCTCTAAAGCCAAGTTCATGTCCTGGCTTACTGGATGCCTGGACAATCCAGCAGAGCATGGACCCCCCACTGTGAACAGGGGCCTCTGTGAGCCGTCAAGGCCAGGCAGTAGCCTCAGGCACCATCACCCACCTAACATAGTTGAGAGTTGGCCTGCGGCTGTGCAGAGTAGGGGGCTGCCTCCACTGAGCCTGGGTGCCAGCAACCCCAGCAGTGACCCCTTCCTCACCCTGCTGCCCCTCTGGCCCTCGTCCTCCATCCCCACTTCGTAGGCTGCAAGATTTCACATCTGAGCAAATTCTTTCCTTCTCCCAGTGGCCTTGAAGCCCAGGCAGGGCTGCTGGTTCCCAGGGGTAATGGGGGCAGTGGGGACCAATGGTCAGGACTCTCCACCTCCCCTGAACGGGGCTTGCATGGGGCTAAGCTCCCCACAACAGCCGAGCTCCCACTGCTCAGCTGCACTCAGCCCGGCCCCAGTGGTCCCTAATGAATATGAGCGGCCCCCGCTTGCAGCAGATGGAAGCAGCCCTGAGGGAGCTCGAAATATTAAACTCTTCCTGGGCACAGGACACCAGCAGCTCAAGTTCCTCCTCCTCCCCTAGAAGGACCCGGAGGCAGGAGCCGGGCCCCAGGCAGAGAACCACCGCAGCCAGGCACAGGACGAGACGGCCTCTCAGGAGGCAGCCGAGGAGGCCACACAGGGCTGCCAGGACAGGGCCAAGGGCACACACTCTTGCCATCATGCTCTCTCCCACAGCGGCCACACGGCCCACACAGCCAGGTGTACCCTCAGGTCCCTTCTCACCACGAATACCCCCGCCTCCCACAGCTGGGGGGCCACGCTTTGTGCCCAAACCCCCAGCTTCCCCTCTCAGCACAGCTCACACAGAGCCCTGCTGGGCAACTCAGCTGCCTGCTTGCACCCCTACCCCAGGCCCCGGCACCCCAGCCGTCTGCATGGATGAGCGGGGGAGGGGGAGGCCACCTGGGCCAGACAAAACAAGGAGGAAAGCACCCGCTCCTGTCCCTTAACTGCCCTGCCTGTGGCTAGGCCCACCTGGCCCTCCAACGCTCATCCCACAGGAGGCCAGGCAGGGAGAGGCTGGGACAGACCTCACAGGCACCCACCCACTGCCAGCCCACTTGGGGAGGGGGTCACCCGGCCCTCCCAGACTCATGCTTTGGGACAGATACCCCAGGTGGAGGTGCTCAAGGCAGGACAGGGCTGGTGGCTAGAGCTCTCCCACAGCCCCGAAGTCCAGCAGCAAATGGGGTTTCCAGTCGCCCTGGATATGTGGAGCTAACCCAGATGACCCCGAAGCCCTCCAGGCCCAGCCCCCACGGCTGAGAACACAGAAGGGCTGGCTGCCAGGGCCGCGGGATTAGTGCCCTCACTCGTGCACATGACCGGTCCCAGCAGGGGGGCCGCGGGGGCTGGGTGCACAT | benign | 156,350 |
Determine whether the variant at chromosome 9, position 137192572, in gene TPRN (taperin) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | TGCCCACCCTCCCCAGGCCAGCCCCACCCTGAGCCCTCCCCAGCAGGGCCGCCGGTCCTCTTCCCCTGACTGGCCCACGGCTCACCCTCCTCTCAGGAGCTCTGCTTGCTCGTCCTGTTCTCTGCCACACCCTGGTGGCCAGCATAGGACCCAGCCCAGAGAGACAGCTGGGGATGCCAAGCATATCCAGCAGCTGCCTCAGATTCAGGTCCCTCTCAGCAAGGACTGGGGGGAGTTCACACCCCCCACCCCCGTCGGTTCCTCAGTTGCAAGTTTTGCTTGGCCTGATGACACCACTGCTGCCACCAGGCCCTGCTGCCCACCTTTCCCTGGCCGCACACCAAGCACTGGCCACTTCCATCCTTCCATGTGCCCTGGGGCCTCTGTTTTGTCCCTGCAGCAACCAAGCATGGCCCGAGGACTGGGCCGATTTGGGAGGCATGTGTTGATCCAGAGGGTCCAGAAAAGAGCTGGGCCTAACCCGACCAGGGAAATACACCAAACTCTCCTTCCGCCGGAGTTTGGCCAGACAGCATCTCTTTATCTCTTTGCTCTTAGGTTTGATCCTCCAGGGAGGAAATGGTGCTTGGGTTCCATGGGCTGTAAACAGCCCCAGCTCTGGCCGTCTGAGGCAGGCGCTGCTCCCGGCCTGCCTCATCCTGTGGGTCGGGGGGCACGCCAAGCCCAGCAGAAGACACCGTCCCCTGTGCTGCCCTCATGCTGCCCTTCCCTTGGTCCCTCCCCAGGCTCTGGGCCCCTCAGAGAAGCCACTTCAGGCCCAACAGCTGCAACACTCTCACCCTCCCACCTGAAGTCTAGGCCCCTGACAGCAGGCCTGTCATCCTACCTCCCACAGTGCCAGCTCTGGGAGGCTGGGGTGGAGGGGCAACAGGTTAACAGGCCATGGAAGTTGGGAGGTCAGAGCCTTGGCCACTGGGACATCAAGGAGTGGGGGTACCAGATCGGGGTCACCTCCCACACACCCTGGCATAGACGTGCAAACTGGGGCCCACTGGACCCCATGTGGCCTCTTCCTGCAGAGACCTCCCCCTGCTCCCTTCTCAGCCAAGGACCACGCAGTGGGGACACCAGCAGCCTTGTCCAGTGCTGTTTATTGAGTCCATCATCAGAGGCAGGAAAGACGCCACTCATCACAGAGGGCATGTGGGCTGCGGGCAGGGGCTTAGGGTCCTGCAGAGGACAAGTAGCTGGGACAGCCCTTCACCCCGACACCCCATGGCCACTGTGAGGCAGGCTGAGGAGACAGGACAGGGAATGGCCAGGTGCAGAATCTGCACAGCCCCCTGCCGGGTCGCAGATGGCCACCACCCAGCAGGCCCCTGGCACTCACCCACAGGCAGTTCCCCACCCCACTTCCCCCTTGGACCCTCCCAAATCAGGGCCGGGGAGTGAGACCCAGACCTGGCCCCGATGGCAGGAGGCACCCTAGCTGCTTCCAGGGCCAGGAGGGGTGGGTGGGATACAGTGAGGCCAAACAAGGCAGAAGCGGGTGCAGTAGTCCCTGGCTACTGCCCAGCTTCCGGGACTCCCACAGCTGGGCTCAGCCTTGGTCCTGGCAGTGCTGGGCTCAGAAATACAGGGCTGGCTCGCTGCGGAAGTCCGAGAGGTCATTCTGACTGGCGGGTGTGAGCTGAAAGTGAGAGGACAGAATGTGGACACATGGGCTCGCCCGGGTGTCAGACTCCCCCCAGCGCTCCACTCCCCCGCATCTCACCATGGCCTCCACGGGCGGGGGCTCTGCCTCCCTCGGGGCCTGCTCCAGCGCCTGCTCCTGCCACTTGCTGAAGGCCACAGAGTGCTTCGGGGTGTAGCTGGACAGGCCTGTGAATGGAGGTGCACATGCAGACGTGGACACAGACCAGGCTCCACCCCTCCCAGGCTGCCTGTCCCCCAGGTGGGCACTCACCTGAGCTACCCTCTGGCAGCCGAGAGCTCTCGGGTCTCACGCTGCTCACAAACGTGGCCCGGGGCAGGAAGAGTGCAAAGGGCTTCTCCTCTGAGCCGGATCCCTCTTCCTCCTCTTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCTCCTGCTGGTCCACCTCTTCCTCCTGCTCTAGGGAGCTCTCGGAAGGGTACTCAAATGTGGTCTGCAGGCTTTTGTCGTTGAAGGAGATCTTCATCTGGGAGTGAGAGTCACGTGAACGAGGGCTGAGGGCCCACATGGGCACAGTGATGCCAGGGGCTCAGGTTCAGCCCTCAGGATGAGGCTGACCCAAGTGGGGCGCCAGACACACCATCAACCGTTCCGGGGGCTCCAGGAGGGGGCACAGAGCTCTCCAGCTGGACCCTGCAGGCGTCCATCCCTCCACCCTGGGGGTCAACCTCCCCTCCCCATTCCAGCCAGGGACCAAACGCTGACCAGGACCAGGAGCCCAAAGCCTCTGGGTCCCCAGAAGCCTCTAGACCAGCTCCTGGAGCTACCATCTCAGGCCCCTCCTGCTCTGCTGTCTGGGCAGAGTGCCAGCTGGGGGGAAACTGGGGTGGACACATCCCCTCCCACCAAGCAGCTCTAGAGCAGGAACAGGGTGGAAAAGAGGCTGTCCCCTCAGGGGCCTTGCACTCTAGGCTCCAGGCAGCTCCTGCTGGTGTCTGGGGCCTCTCTCTAAAGCCAAGTTCATGTCCTGGCTTACTGGATGCCTGGACAATCCAGCAGAGCATGGACCCCCCACTGTGAACAGGGGCCTCTGTGAGCCGTCAAGGCCAGGCAGTAGCCTCAGGCACCATCACCCACCTAACATAGTTGAGAGTTGGCCTGCGGCTGTGCAGAGTAGGGGGCTGCCTCCACTGAGCCTGGGTGCCAGCAACCCCAGCAGTGACCCCTTCCTCACCCTGCTGCCCCTCTGGCCCTCGTCCTCCATCCCCACTTCGTAGGCTGCAAGATTTCACATCTGAGCAAATTCTTTCCTTCTCCCAGTGGCCTTGAAGCCCAGGCAGGGCTGCTGGTTCCCAGGGGTAATGGGGGCAGTGGGGACCAATGGTCAGGACTCTCCACCTCCCCTGAACGGGGCTTGCATGGGGCTAAGCTCCCCACAACAGCCGAGCTCCCACTGCTCAGCTGCACTCAGCCCGGCCCCAGTGGTCCCTAATGAATATGAGCGGCCCCCGCTTGCAGCAGATGGAAGCAGCCCTGAGGGAGCTCGAAATATTAAACTCTTCCTGGGCACAGGACACCAGCAGCTCAAGTTCCTCCTCCTCCCCTAGAAGGACCCGGAGGCAGGAGCCGGGCCCCAGGCAGAGAACCACCGCAGCCAGGCACAGGACGAGACGGCCTCTCAGGAGGCAGCCGAGGAGGCCACACAGGGCTGCCAGGACAGGGCCAAGGGCACACACTCTTGCCATCATGCTCTCTCCCACAGCGGCCACACGGCCCACACAGCCAGGTGTACCCTCAGGTCCCTTCTCACCACGAATACCCCCGCCTCCCACAGCTGGGGGGCCACGCTTTGTGCCCAAACCCCCAGCTTCCCCTCTCAGCACAGCTCACACAGAGCCCTGCTGGGCAACTCAGCTGCCTGCTTGCACCCCTACCCCAGGCCCCGGCACCCCAGCCGTCTGCATGGATGAGCGGGGGAGGGGGAGGCCACCTGGGCCAGACAAAACAAGGAGGAAAGCACCCGCTCCTGTCCCTTAACTGCCCTGCCTGTGGCTAGGCCCACCTGGCCCTCCAACGCTCATCCCACAGGAGGCCAGGCAGGGAGAGGCTGGGACAGACCTCACAGGCACCCACCCACTGCCAGCCCACTTGGGGAGGGGGTCACCCGGCCCTCCCAGACTCATGCTTTGGGACAGATACCCCAGGTGGAGGTGCTCAAGGCAGGACAGGGCTGGTGGCTAGAGCTCTCCCACAGCCCCGAAGTCCAGCAGCAAATGGGGTTTCCAGTCGCCCTGGATATGTGGAGCTAACCCAGATGACCCCGAAGCCCTCCAGGCCCAGCCCCCACGGCTGAGAACACAGAAGGGCTGGCTGCCAGGGCCGCGGGATTAGTGCCCTCACTCGTGCACATGACCGGTCCCAGCAGGGGGGCCGCGGGGGCTGGGTGCACATGGG | TGCCCACCCTCCCCAGGCCAGCCCCACCCTGAGCCCTCCCCAGCAGGGCCGCCGGTCCTCTTCCCCTGACTGGCCCACGGCTCACCCTCCTCTCAGGAGCTCTGCTTGCTCGTCCTGTTCTCTGCCACACCCTGGTGGCCAGCATAGGACCCAGCCCAGAGAGACAGCTGGGGATGCCAAGCATATCCAGCAGCTGCCTCAGATTCAGGTCCCTCTCAGCAAGGACTGGGGGGAGTTCACACCCCCCACCCCCGTCGGTTCCTCAGTTGCAAGTTTTGCTTGGCCTGATGACACCACTGCTGCCACCAGGCCCTGCTGCCCACCTTTCCCTGGCCGCACACCAAGCACTGGCCACTTCCATCCTTCCATGTGCCCTGGGGCCTCTGTTTTGTCCCTGCAGCAACCAAGCATGGCCCGAGGACTGGGCCGATTTGGGAGGCATGTGTTGATCCAGAGGGTCCAGAAAAGAGCTGGGCCTAACCCGACCAGGGAAATACACCAAACTCTCCTTCCGCCGGAGTTTGGCCAGACAGCATCTCTTTATCTCTTTGCTCTTAGGTTTGATCCTCCAGGGAGGAAATGGTGCTTGGGTTCCATGGGCTGTAAACAGCCCCAGCTCTGGCCGTCTGAGGCAGGCGCTGCTCCCGGCCTGCCTCATCCTGTGGGTCGGGGGGCACGCCAAGCCCAGCAGAAGACACCGTCCCCTGTGCTGCCCTCATGCTGCCCTTCCCTTGGTCCCTCCCCAGGCTCTGGGCCCCTCAGAGAAGCCACTTCAGGCCCAACAGCTGCAACACTCTCACCCTCCCACCTGAAGTCTAGGCCCCTGACAGCAGGCCTGTCATCCTACCTCCCACAGTGCCAGCTCTGGGAGGCTGGGGTGGAGGGGCAACAGGTTAACAGGCCATGGAAGTTGGGAGGTCAGAGCCTTGGCCACTGGGACATCAAGGAGTGGGGGTACCAGATCGGGGTCACCTCCCACACACCCTGGCATAGACGTGCAAACTGGGGCCCACTGGACCCCATGTGGCCTCTTCCTGCAGAGACCTCCCCCTGCTCCCTTCTCAGCCAAGGACCACGCAGTGGGGACACCAGCAGCCTTGTCCAGTGCTGTTTATTGAGTCCATCATCAGAGGCAGGAAAGACGCCACTCATCACAGAGGGCATGTGGGCTGCGGGCAGGGGCTTAGGGTCCTGCAGAGGACAAGTAGCTGGGACAGCCCTTCACCCCGACACCCCATGGCCACTGTGAGGCAGGCTGAGGAGACAGGACAGGGAATGGCCAGGTGCAGAATCTGCACAGCCCCCTGCCGGGTCGCAGATGGCCACCACCCAGCAGGCCCCTGGCACTCACCCACAGGCAGTTCCCCACCCCACTTCCCCCTTGGACCCTCCCAAATCAGGGCCGGGGAGTGAGACCCAGACCTGGCCCCGATGGCAGGAGGCACCCTAGCTGCTTCCAGGGCCAGGAGGGGTGGGTGGGATACAGTGAGGCCAAACAAGGCAGAAGCGGGTGCAGTAGTCCCTGGCTACTGCCCAGCTTCCGGGACTCCCACAGCTGGGCTCAGCCTTGGTCCTGGCAGTGCTGGGCTCAGAAATACAGGGCTGGCTCGCTGCGGAAGTCCGAGAGGTCATTCTGACTGGCGGGTGTGAGCTGAAAGTGAGAGGACAGAATGTGGACACATGGGCTCGCCCGGGTGTCAGACTCCCCCCAGCGCTCCACTCCCCCGCATCTCACCATGGCCTCCACGGGCGGGGGCTCTGCCTCCCTCGGGGCCTGCTCCAGCGCCTGCTCCTGCCACTTGCTGAAGGCCACAGAGTGCTTCGGGGTGTAGCTGGACAGGCCTGTGAATGGAGGTGCACATGCAGACGTGGACACAGACCAGGCTCCACCCCTCCCAGGCTGCCTGTCCCCCAGGTGGGCACTCACCTGAGCTACCCTCTGGCAGCCGAGAGCTCTCGGGTCTCACGCTGCTCACAAACGTGGCCCGGGGCAGGAAGAGTGCAAAGGGCTTCTCCTCTGAGCCGGATCCCTCTTCCTCCTCTTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCTGCTGGTCCACCTCTTCCTCCTGCTCTAGGGAGCTCTCGGAAGGGTACTCAAATGTGGTCTGCAGGCTTTTGTCGTTGAAGGAGATCTTCATCTGGGAGTGAGAGTCACGTGAACGAGGGCTGAGGGCCCACATGGGCACAGTGATGCCAGGGGCTCAGGTTCAGCCCTCAGGATGAGGCTGACCCAAGTGGGGCGCCAGACACACCATCAACCGTTCCGGGGGCTCCAGGAGGGGGCACAGAGCTCTCCAGCTGGACCCTGCAGGCGTCCATCCCTCCACCCTGGGGGTCAACCTCCCCTCCCCATTCCAGCCAGGGACCAAACGCTGACCAGGACCAGGAGCCCAAAGCCTCTGGGTCCCCAGAAGCCTCTAGACCAGCTCCTGGAGCTACCATCTCAGGCCCCTCCTGCTCTGCTGTCTGGGCAGAGTGCCAGCTGGGGGGAAACTGGGGTGGACACATCCCCTCCCACCAAGCAGCTCTAGAGCAGGAACAGGGTGGAAAAGAGGCTGTCCCCTCAGGGGCCTTGCACTCTAGGCTCCAGGCAGCTCCTGCTGGTGTCTGGGGCCTCTCTCTAAAGCCAAGTTCATGTCCTGGCTTACTGGATGCCTGGACAATCCAGCAGAGCATGGACCCCCCACTGTGAACAGGGGCCTCTGTGAGCCGTCAAGGCCAGGCAGTAGCCTCAGGCACCATCACCCACCTAACATAGTTGAGAGTTGGCCTGCGGCTGTGCAGAGTAGGGGGCTGCCTCCACTGAGCCTGGGTGCCAGCAACCCCAGCAGTGACCCCTTCCTCACCCTGCTGCCCCTCTGGCCCTCGTCCTCCATCCCCACTTCGTAGGCTGCAAGATTTCACATCTGAGCAAATTCTTTCCTTCTCCCAGTGGCCTTGAAGCCCAGGCAGGGCTGCTGGTTCCCAGGGGTAATGGGGGCAGTGGGGACCAATGGTCAGGACTCTCCACCTCCCCTGAACGGGGCTTGCATGGGGCTAAGCTCCCCACAACAGCCGAGCTCCCACTGCTCAGCTGCACTCAGCCCGGCCCCAGTGGTCCCTAATGAATATGAGCGGCCCCCGCTTGCAGCAGATGGAAGCAGCCCTGAGGGAGCTCGAAATATTAAACTCTTCCTGGGCACAGGACACCAGCAGCTCAAGTTCCTCCTCCTCCCCTAGAAGGACCCGGAGGCAGGAGCCGGGCCCCAGGCAGAGAACCACCGCAGCCAGGCACAGGACGAGACGGCCTCTCAGGAGGCAGCCGAGGAGGCCACACAGGGCTGCCAGGACAGGGCCAAGGGCACACACTCTTGCCATCATGCTCTCTCCCACAGCGGCCACACGGCCCACACAGCCAGGTGTACCCTCAGGTCCCTTCTCACCACGAATACCCCCGCCTCCCACAGCTGGGGGGCCACGCTTTGTGCCCAAACCCCCAGCTTCCCCTCTCAGCACAGCTCACACAGAGCCCTGCTGGGCAACTCAGCTGCCTGCTTGCACCCCTACCCCAGGCCCCGGCACCCCAGCCGTCTGCATGGATGAGCGGGGGAGGGGGAGGCCACCTGGGCCAGACAAAACAAGGAGGAAAGCACCCGCTCCTGTCCCTTAACTGCCCTGCCTGTGGCTAGGCCCACCTGGCCCTCCAACGCTCATCCCACAGGAGGCCAGGCAGGGAGAGGCTGGGACAGACCTCACAGGCACCCACCCACTGCCAGCCCACTTGGGGAGGGGGTCACCCGGCCCTCCCAGACTCATGCTTTGGGACAGATACCCCAGGTGGAGGTGCTCAAGGCAGGACAGGGCTGGTGGCTAGAGCTCTCCCACAGCCCCGAAGTCCAGCAGCAAATGGGGTTTCCAGTCGCCCTGGATATGTGGAGCTAACCCAGATGACCCCGAAGCCCTCCAGGCCCAGCCCCCACGGCTGAGAACACAGAAGGGCTGGCTGCCAGGGCCGCGGGATTAGTGCCCTCACTCGTGCACATGACCGGTCCCAGCAGGGGGGCCGCGGGGGCTGGGTGCACATGGGNNN | benign | 156,351 |
The genetic variant at chromosome 9, position 137192572, affecting gene TPRN (taperin): benign or pathogenic? Disease name(s) if pathogenic? | benign | TGCCCACCCTCCCCAGGCCAGCCCCACCCTGAGCCCTCCCCAGCAGGGCCGCCGGTCCTCTTCCCCTGACTGGCCCACGGCTCACCCTCCTCTCAGGAGCTCTGCTTGCTCGTCCTGTTCTCTGCCACACCCTGGTGGCCAGCATAGGACCCAGCCCAGAGAGACAGCTGGGGATGCCAAGCATATCCAGCAGCTGCCTCAGATTCAGGTCCCTCTCAGCAAGGACTGGGGGGAGTTCACACCCCCCACCCCCGTCGGTTCCTCAGTTGCAAGTTTTGCTTGGCCTGATGACACCACTGCTGCCACCAGGCCCTGCTGCCCACCTTTCCCTGGCCGCACACCAAGCACTGGCCACTTCCATCCTTCCATGTGCCCTGGGGCCTCTGTTTTGTCCCTGCAGCAACCAAGCATGGCCCGAGGACTGGGCCGATTTGGGAGGCATGTGTTGATCCAGAGGGTCCAGAAAAGAGCTGGGCCTAACCCGACCAGGGAAATACACCAAACTCTCCTTCCGCCGGAGTTTGGCCAGACAGCATCTCTTTATCTCTTTGCTCTTAGGTTTGATCCTCCAGGGAGGAAATGGTGCTTGGGTTCCATGGGCTGTAAACAGCCCCAGCTCTGGCCGTCTGAGGCAGGCGCTGCTCCCGGCCTGCCTCATCCTGTGGGTCGGGGGGCACGCCAAGCCCAGCAGAAGACACCGTCCCCTGTGCTGCCCTCATGCTGCCCTTCCCTTGGTCCCTCCCCAGGCTCTGGGCCCCTCAGAGAAGCCACTTCAGGCCCAACAGCTGCAACACTCTCACCCTCCCACCTGAAGTCTAGGCCCCTGACAGCAGGCCTGTCATCCTACCTCCCACAGTGCCAGCTCTGGGAGGCTGGGGTGGAGGGGCAACAGGTTAACAGGCCATGGAAGTTGGGAGGTCAGAGCCTTGGCCACTGGGACATCAAGGAGTGGGGGTACCAGATCGGGGTCACCTCCCACACACCCTGGCATAGACGTGCAAACTGGGGCCCACTGGACCCCATGTGGCCTCTTCCTGCAGAGACCTCCCCCTGCTCCCTTCTCAGCCAAGGACCACGCAGTGGGGACACCAGCAGCCTTGTCCAGTGCTGTTTATTGAGTCCATCATCAGAGGCAGGAAAGACGCCACTCATCACAGAGGGCATGTGGGCTGCGGGCAGGGGCTTAGGGTCCTGCAGAGGACAAGTAGCTGGGACAGCCCTTCACCCCGACACCCCATGGCCACTGTGAGGCAGGCTGAGGAGACAGGACAGGGAATGGCCAGGTGCAGAATCTGCACAGCCCCCTGCCGGGTCGCAGATGGCCACCACCCAGCAGGCCCCTGGCACTCACCCACAGGCAGTTCCCCACCCCACTTCCCCCTTGGACCCTCCCAAATCAGGGCCGGGGAGTGAGACCCAGACCTGGCCCCGATGGCAGGAGGCACCCTAGCTGCTTCCAGGGCCAGGAGGGGTGGGTGGGATACAGTGAGGCCAAACAAGGCAGAAGCGGGTGCAGTAGTCCCTGGCTACTGCCCAGCTTCCGGGACTCCCACAGCTGGGCTCAGCCTTGGTCCTGGCAGTGCTGGGCTCAGAAATACAGGGCTGGCTCGCTGCGGAAGTCCGAGAGGTCATTCTGACTGGCGGGTGTGAGCTGAAAGTGAGAGGACAGAATGTGGACACATGGGCTCGCCCGGGTGTCAGACTCCCCCCAGCGCTCCACTCCCCCGCATCTCACCATGGCCTCCACGGGCGGGGGCTCTGCCTCCCTCGGGGCCTGCTCCAGCGCCTGCTCCTGCCACTTGCTGAAGGCCACAGAGTGCTTCGGGGTGTAGCTGGACAGGCCTGTGAATGGAGGTGCACATGCAGACGTGGACACAGACCAGGCTCCACCCCTCCCAGGCTGCCTGTCCCCCAGGTGGGCACTCACCTGAGCTACCCTCTGGCAGCCGAGAGCTCTCGGGTCTCACGCTGCTCACAAACGTGGCCCGGGGCAGGAAGAGTGCAAAGGGCTTCTCCTCTGAGCCGGATCCCTCTTCCTCCTCTTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCTCCTGCTGGTCCACCTCTTCCTCCTGCTCTAGGGAGCTCTCGGAAGGGTACTCAAATGTGGTCTGCAGGCTTTTGTCGTTGAAGGAGATCTTCATCTGGGAGTGAGAGTCACGTGAACGAGGGCTGAGGGCCCACATGGGCACAGTGATGCCAGGGGCTCAGGTTCAGCCCTCAGGATGAGGCTGACCCAAGTGGGGCGCCAGACACACCATCAACCGTTCCGGGGGCTCCAGGAGGGGGCACAGAGCTCTCCAGCTGGACCCTGCAGGCGTCCATCCCTCCACCCTGGGGGTCAACCTCCCCTCCCCATTCCAGCCAGGGACCAAACGCTGACCAGGACCAGGAGCCCAAAGCCTCTGGGTCCCCAGAAGCCTCTAGACCAGCTCCTGGAGCTACCATCTCAGGCCCCTCCTGCTCTGCTGTCTGGGCAGAGTGCCAGCTGGGGGGAAACTGGGGTGGACACATCCCCTCCCACCAAGCAGCTCTAGAGCAGGAACAGGGTGGAAAAGAGGCTGTCCCCTCAGGGGCCTTGCACTCTAGGCTCCAGGCAGCTCCTGCTGGTGTCTGGGGCCTCTCTCTAAAGCCAAGTTCATGTCCTGGCTTACTGGATGCCTGGACAATCCAGCAGAGCATGGACCCCCCACTGTGAACAGGGGCCTCTGTGAGCCGTCAAGGCCAGGCAGTAGCCTCAGGCACCATCACCCACCTAACATAGTTGAGAGTTGGCCTGCGGCTGTGCAGAGTAGGGGGCTGCCTCCACTGAGCCTGGGTGCCAGCAACCCCAGCAGTGACCCCTTCCTCACCCTGCTGCCCCTCTGGCCCTCGTCCTCCATCCCCACTTCGTAGGCTGCAAGATTTCACATCTGAGCAAATTCTTTCCTTCTCCCAGTGGCCTTGAAGCCCAGGCAGGGCTGCTGGTTCCCAGGGGTAATGGGGGCAGTGGGGACCAATGGTCAGGACTCTCCACCTCCCCTGAACGGGGCTTGCATGGGGCTAAGCTCCCCACAACAGCCGAGCTCCCACTGCTCAGCTGCACTCAGCCCGGCCCCAGTGGTCCCTAATGAATATGAGCGGCCCCCGCTTGCAGCAGATGGAAGCAGCCCTGAGGGAGCTCGAAATATTAAACTCTTCCTGGGCACAGGACACCAGCAGCTCAAGTTCCTCCTCCTCCCCTAGAAGGACCCGGAGGCAGGAGCCGGGCCCCAGGCAGAGAACCACCGCAGCCAGGCACAGGACGAGACGGCCTCTCAGGAGGCAGCCGAGGAGGCCACACAGGGCTGCCAGGACAGGGCCAAGGGCACACACTCTTGCCATCATGCTCTCTCCCACAGCGGCCACACGGCCCACACAGCCAGGTGTACCCTCAGGTCCCTTCTCACCACGAATACCCCCGCCTCCCACAGCTGGGGGGCCACGCTTTGTGCCCAAACCCCCAGCTTCCCCTCTCAGCACAGCTCACACAGAGCCCTGCTGGGCAACTCAGCTGCCTGCTTGCACCCCTACCCCAGGCCCCGGCACCCCAGCCGTCTGCATGGATGAGCGGGGGAGGGGGAGGCCACCTGGGCCAGACAAAACAAGGAGGAAAGCACCCGCTCCTGTCCCTTAACTGCCCTGCCTGTGGCTAGGCCCACCTGGCCCTCCAACGCTCATCCCACAGGAGGCCAGGCAGGGAGAGGCTGGGACAGACCTCACAGGCACCCACCCACTGCCAGCCCACTTGGGGAGGGGGTCACCCGGCCCTCCCAGACTCATGCTTTGGGACAGATACCCCAGGTGGAGGTGCTCAAGGCAGGACAGGGCTGGTGGCTAGAGCTCTCCCACAGCCCCGAAGTCCAGCAGCAAATGGGGTTTCCAGTCGCCCTGGATATGTGGAGCTAACCCAGATGACCCCGAAGCCCTCCAGGCCCAGCCCCCACGGCTGAGAACACAGAAGGGCTGGCTGCCAGGGCCGCGGGATTAGTGCCCTCACTCGTGCACATGACCGGTCCCAGCAGGGGGGCCGCGGGGGCTGGGTGCACATGGG | TGCCCACCCTCCCCAGGCCAGCCCCACCCTGAGCCCTCCCCAGCAGGGCCGCCGGTCCTCTTCCCCTGACTGGCCCACGGCTCACCCTCCTCTCAGGAGCTCTGCTTGCTCGTCCTGTTCTCTGCCACACCCTGGTGGCCAGCATAGGACCCAGCCCAGAGAGACAGCTGGGGATGCCAAGCATATCCAGCAGCTGCCTCAGATTCAGGTCCCTCTCAGCAAGGACTGGGGGGAGTTCACACCCCCCACCCCCGTCGGTTCCTCAGTTGCAAGTTTTGCTTGGCCTGATGACACCACTGCTGCCACCAGGCCCTGCTGCCCACCTTTCCCTGGCCGCACACCAAGCACTGGCCACTTCCATCCTTCCATGTGCCCTGGGGCCTCTGTTTTGTCCCTGCAGCAACCAAGCATGGCCCGAGGACTGGGCCGATTTGGGAGGCATGTGTTGATCCAGAGGGTCCAGAAAAGAGCTGGGCCTAACCCGACCAGGGAAATACACCAAACTCTCCTTCCGCCGGAGTTTGGCCAGACAGCATCTCTTTATCTCTTTGCTCTTAGGTTTGATCCTCCAGGGAGGAAATGGTGCTTGGGTTCCATGGGCTGTAAACAGCCCCAGCTCTGGCCGTCTGAGGCAGGCGCTGCTCCCGGCCTGCCTCATCCTGTGGGTCGGGGGGCACGCCAAGCCCAGCAGAAGACACCGTCCCCTGTGCTGCCCTCATGCTGCCCTTCCCTTGGTCCCTCCCCAGGCTCTGGGCCCCTCAGAGAAGCCACTTCAGGCCCAACAGCTGCAACACTCTCACCCTCCCACCTGAAGTCTAGGCCCCTGACAGCAGGCCTGTCATCCTACCTCCCACAGTGCCAGCTCTGGGAGGCTGGGGTGGAGGGGCAACAGGTTAACAGGCCATGGAAGTTGGGAGGTCAGAGCCTTGGCCACTGGGACATCAAGGAGTGGGGGTACCAGATCGGGGTCACCTCCCACACACCCTGGCATAGACGTGCAAACTGGGGCCCACTGGACCCCATGTGGCCTCTTCCTGCAGAGACCTCCCCCTGCTCCCTTCTCAGCCAAGGACCACGCAGTGGGGACACCAGCAGCCTTGTCCAGTGCTGTTTATTGAGTCCATCATCAGAGGCAGGAAAGACGCCACTCATCACAGAGGGCATGTGGGCTGCGGGCAGGGGCTTAGGGTCCTGCAGAGGACAAGTAGCTGGGACAGCCCTTCACCCCGACACCCCATGGCCACTGTGAGGCAGGCTGAGGAGACAGGACAGGGAATGGCCAGGTGCAGAATCTGCACAGCCCCCTGCCGGGTCGCAGATGGCCACCACCCAGCAGGCCCCTGGCACTCACCCACAGGCAGTTCCCCACCCCACTTCCCCCTTGGACCCTCCCAAATCAGGGCCGGGGAGTGAGACCCAGACCTGGCCCCGATGGCAGGAGGCACCCTAGCTGCTTCCAGGGCCAGGAGGGGTGGGTGGGATACAGTGAGGCCAAACAAGGCAGAAGCGGGTGCAGTAGTCCCTGGCTACTGCCCAGCTTCCGGGACTCCCACAGCTGGGCTCAGCCTTGGTCCTGGCAGTGCTGGGCTCAGAAATACAGGGCTGGCTCGCTGCGGAAGTCCGAGAGGTCATTCTGACTGGCGGGTGTGAGCTGAAAGTGAGAGGACAGAATGTGGACACATGGGCTCGCCCGGGTGTCAGACTCCCCCCAGCGCTCCACTCCCCCGCATCTCACCATGGCCTCCACGGGCGGGGGCTCTGCCTCCCTCGGGGCCTGCTCCAGCGCCTGCTCCTGCCACTTGCTGAAGGCCACAGAGTGCTTCGGGGTGTAGCTGGACAGGCCTGTGAATGGAGGTGCACATGCAGACGTGGACACAGACCAGGCTCCACCCCTCCCAGGCTGCCTGTCCCCCAGGTGGGCACTCACCTGAGCTACCCTCTGGCAGCCGAGAGCTCTCGGGTCTCACGCTGCTCACAAACGTGGCCCGGGGCAGGAAGAGTGCAAAGGGCTTCTCCTCTGAGCCGGATCCCTCTTCCTCCTCTTCCTCTTCCTCCTCCTCCTCCTCCTCCTGCTGGTCCACCTCTTCCTCCTGCTCTAGGGAGCTCTCGGAAGGGTACTCAAATGTGGTCTGCAGGCTTTTGTCGTTGAAGGAGATCTTCATCTGGGAGTGAGAGTCACGTGAACGAGGGCTGAGGGCCCACATGGGCACAGTGATGCCAGGGGCTCAGGTTCAGCCCTCAGGATGAGGCTGACCCAAGTGGGGCGCCAGACACACCATCAACCGTTCCGGGGGCTCCAGGAGGGGGCACAGAGCTCTCCAGCTGGACCCTGCAGGCGTCCATCCCTCCACCCTGGGGGTCAACCTCCCCTCCCCATTCCAGCCAGGGACCAAACGCTGACCAGGACCAGGAGCCCAAAGCCTCTGGGTCCCCAGAAGCCTCTAGACCAGCTCCTGGAGCTACCATCTCAGGCCCCTCCTGCTCTGCTGTCTGGGCAGAGTGCCAGCTGGGGGGAAACTGGGGTGGACACATCCCCTCCCACCAAGCAGCTCTAGAGCAGGAACAGGGTGGAAAAGAGGCTGTCCCCTCAGGGGCCTTGCACTCTAGGCTCCAGGCAGCTCCTGCTGGTGTCTGGGGCCTCTCTCTAAAGCCAAGTTCATGTCCTGGCTTACTGGATGCCTGGACAATCCAGCAGAGCATGGACCCCCCACTGTGAACAGGGGCCTCTGTGAGCCGTCAAGGCCAGGCAGTAGCCTCAGGCACCATCACCCACCTAACATAGTTGAGAGTTGGCCTGCGGCTGTGCAGAGTAGGGGGCTGCCTCCACTGAGCCTGGGTGCCAGCAACCCCAGCAGTGACCCCTTCCTCACCCTGCTGCCCCTCTGGCCCTCGTCCTCCATCCCCACTTCGTAGGCTGCAAGATTTCACATCTGAGCAAATTCTTTCCTTCTCCCAGTGGCCTTGAAGCCCAGGCAGGGCTGCTGGTTCCCAGGGGTAATGGGGGCAGTGGGGACCAATGGTCAGGACTCTCCACCTCCCCTGAACGGGGCTTGCATGGGGCTAAGCTCCCCACAACAGCCGAGCTCCCACTGCTCAGCTGCACTCAGCCCGGCCCCAGTGGTCCCTAATGAATATGAGCGGCCCCCGCTTGCAGCAGATGGAAGCAGCCCTGAGGGAGCTCGAAATATTAAACTCTTCCTGGGCACAGGACACCAGCAGCTCAAGTTCCTCCTCCTCCCCTAGAAGGACCCGGAGGCAGGAGCCGGGCCCCAGGCAGAGAACCACCGCAGCCAGGCACAGGACGAGACGGCCTCTCAGGAGGCAGCCGAGGAGGCCACACAGGGCTGCCAGGACAGGGCCAAGGGCACACACTCTTGCCATCATGCTCTCTCCCACAGCGGCCACACGGCCCACACAGCCAGGTGTACCCTCAGGTCCCTTCTCACCACGAATACCCCCGCCTCCCACAGCTGGGGGGCCACGCTTTGTGCCCAAACCCCCAGCTTCCCCTCTCAGCACAGCTCACACAGAGCCCTGCTGGGCAACTCAGCTGCCTGCTTGCACCCCTACCCCAGGCCCCGGCACCCCAGCCGTCTGCATGGATGAGCGGGGGAGGGGGAGGCCACCTGGGCCAGACAAAACAAGGAGGAAAGCACCCGCTCCTGTCCCTTAACTGCCCTGCCTGTGGCTAGGCCCACCTGGCCCTCCAACGCTCATCCCACAGGAGGCCAGGCAGGGAGAGGCTGGGACAGACCTCACAGGCACCCACCCACTGCCAGCCCACTTGGGGAGGGGGTCACCCGGCCCTCCCAGACTCATGCTTTGGGACAGATACCCCAGGTGGAGGTGCTCAAGGCAGGACAGGGCTGGTGGCTAGAGCTCTCCCACAGCCCCGAAGTCCAGCAGCAAATGGGGTTTCCAGTCGCCCTGGATATGTGGAGCTAACCCAGATGACCCCGAAGCCCTCCAGGCCCAGCCCCCACGGCTGAGAACACAGAAGGGCTGGCTGCCAGGGCCGCGGGATTAGTGCCCTCACTCGTGCACATGACCGGTCCCAGCAGGGGGGCCGCGGGGGCTGGGTGCACATGGGNNNNNN | benign | 156,352 |
Variant on chromosome 9, at position 137199768, affecting TPRN (taperin): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_79'] | GAGGCTGTGGCTATCAGACTGACCCCACCTTGATGGGCTGGGGTGATGCTCGGGCGAGGGTCGGGGAGATAGACCCACGTGGCTCCAGGAGTGGGAGGGGCCCTGGACCCAGCCCCAAGCCCCCACTGGAAGCACCTCAGGAGGGTTAGCACGGATGCCTGGGCCGGCAGATAGAGCCGGCAGGGGCACCAACGCCCTGGTTCCAGGAGGGGAGTATGGCACAGGGAGAGGCGCAATGCCAAGGCCAATCCCGGGCAGGAAGCAAACAGAGGGAGGCAGCAGCCTATCTGCTGAGGGAGCCTGCAAGGTCCCATCCCCAGCCTGGGGAAACTGAGGCTGGAGGACAGCCCGCCTCAGGGGTGAGCCTAGCCAGCAATGGCTCTGGGGCAGTGCCTGGATAGGAAGACCCAAGGGAGGCGCCCCAGGCGCCCCCCCTCAGTCCCCAGGAAAGGTACACCTGCTTCCTGACAGGTCACCGCAGACCGGGAAGTCACATGGAGCTGCCCTTGGAATTTGCCCCAGGGAACAAATACAGGTGCAGGAATTACCAGAAAGAATCTGAAGATTTTTTTTCCTGTGCCCAGAGGATTCCAGGCCACTGGCCAAGAGGGAGACTCCCCTGCCTGGCTGGCTCAGAGCCTCCGAAGGCCCCTTCTCCCCAGCAAGCTTCCCAGGCCCAGAACAGGCATACACGGCACTCCTGCCCAGCTCCCAACCAGTGTGCCTTCTGGGGAGCTGATGGCCCTCTCCCAACTGGCTGGTGGGCTGCACCCCAAGGCTGACTGTGATGCGAGGATCCAGCCAACCCCGATCATCTGGCCCTTCCCATTCATAGCGTGGCGCCTGGCGCCCATGCAGCGGGCCTCCAGGAGACCATGTGAGGCCACCCCTCAAAGCCAAGCCCAGGGAGGAACCCACAAGCCCAGGTCTGCTTCTTTCAGCTGGACTCACAAAGGGACAGACCCGCCCAGCTAATTCCAGATGAGCCACAACAACTGGCAAGGGACATAGCACTGTCTGCCCTGTCGCTCTCCAGCAGCCTGGCAAGGCACACAGCAGGCCAGCTGTCCCCACGGCCCAAGTCAGGGGGCTCCACTGGGGCCCTGGACCCAGCACGGCCCACCCAGCCCCAGCTCGCCTCAAGTCCATGTAGAAACCATCCTTTGCCCAGGCCAAGCGTCCTGGGATCAGGGCAGGTGCTGCCCCCACAGTTCTGTGAGCTGTCACTCTCTCCCTGCCAGCCAGTGGCCCTGCCCCCACCACTGACCTTCTTTCTTGAGGAGCCAGCCTTGGTGAGGCAGGACTTCTGCAGGGCCAGGTAGCCGCCAATCACCTCGATCTCATGCACGGTGGGGTAGCGCTTCTTCAACGTGGGCCCCAGGAGGCAACTAGCCTCCTCCTCCTCGGCCTCCCGTGGCCGAGGCTCCCTGTTGGCCTGACTGAAGTGCTGGTCCTGCAGAGTCCCTGGCTTCCTCTTGGGCACCACTGTGAAGGTGTTGCTGCCCCGGGGCTGAAGCTCTGCCACGCACCCGGGCCTGGCAGGGTGCAGAGGCCTGGCAGGGTGCGGGAGGTAGGGTAGTTTGGCTGCTTGGGGGGCCTCCTCCGAGTCTACCTCATCGATGAAGGTGACAGGCAGCCCCGGCCTCACATATTCCCGGCTATTCTTGGCCAAGCCAGGAACCCTGAGGCCCTCAGCAGGCTCAGCTTCTTCCGAAGCAGCCGGCAGGAAGGGGGGCGGTGAGGACGGCCTCTGCCACCTAATAGCCCGGTCAGCGAGGGCGGTGGCTGTCCTGGGACAGGCCCCCTCCTCGACTGCCCACTGTGCCTCGACCTCCAGGGGGCTCTTCCCGAGGGCAGGCGCACCATCCCCTCCAGGCACCGGCTGGGATCCGAGCTCCTGGCTCGGGGAGGCCGGGCCCAGGTCTCCCTTTGGCAGCTCCACGGACTGCCTCCCCTCAGGAGGAGGAGCCCCGGAGGCCTTGCTCTTGGGGATGACCATGAAAGAATTTCGAGAGTTTGCGCGGAGGCTGGCCAGCGCCCGGGCCTGGAGGTCCCCCAAGGGGATGGTCTCCATAACTGGCTTGGGGGCCGGCCGTATCTCGAAGGAGTCGTTGGTGCTGGTGGCTGCGGAGACGCACTGGCGCTGGCTAGGAGTGGCACTGGCAGGGGGTGAGGCTGGAGTGGCACTCGGGGTCCCGGGGCTGGGGGGCGGGTGGAGGGAGGGATCCCCCGACTCCACCTTTGGCTTCCACTGTCCCGACCCAGGCGGGGAGCCCGCGAGGCGGTTGGCAGGGCCGGCCCGGGGCTCAGGGGCCGAGTGCCCGTTGGAGAGCAGGCGGGCGCCCGCGCCGCGGTGCAGACCCCGGGGGTGGACGGTGAAGGAGTTGCTGCCGGTCTTCTGGAGGAAGTCGCTGCGCCGGGCCCCGGGGCTCGCCCCGCCACCGCGGGGCCCGGGCGCGGCGGGCGGGCTGGGGGCCGCGGGCGGGGGCCGGGGCGGCGCGGGCGGCGGCGGCGGCGGCGGGGGGCGGGCGCGCTCGGGGCTCCCGCGGCGGCGCGGCGCGGCGGGCGGGTCGAACCTCTCCAGTAGGCGGCTGACGCGGCCGGGCGGCGCCCCGTACACCAGCACCTCGGCGGCGCGGATCTGCGCGGCCCCCGGGGCGGGCGGCGCGGGCGGGAAGCCGGGCACCGTCTCGATGATGAGGACGCTGTCGGCGCGGAGGGCGCGCACGCCAGGCACGCGGCGGTACCGCTCCAGCAGCCGCGCCCCCGCCGCGCCCCCGCCGCGCCGCCGCTCGGCCTCCAGCAGCATGAACGGGTTCTCGCGCAGCGGGCCCAGGCTCTCGGCCAGCACCCGCTGCTCGGGCTCCGCCGCCCCGGGCCCCGCGCCCCCGCCCAGCGCGGCTAGCTTGGCCCGCTTCCGCTCCAGGATCTCACGCTTCCAAGCGGGCACCGCAGCGCGCGGCCCCGAGCCCGGCCGCCCCAGGGCGGCCATGCTGCGAACGCGGCAGCGGACGGCTGGACTGAGGGCCGGAGTGGCAGCCGCCGCCGCGGCCAGCCTGGGCGCCGCGGCCACGCCCCCTCCCGGGCCACCGACCATTGGGGAAAGCCCGCTCTCCCCGCCCCGTGCGGGAGGCCCACCTATGGCAGGGGAGGAGGGCGGGCCCCTCAAGTGACCCTACCGATTGGACAACACTCGCCTCAACCCCGCCTCCCAAGGGACTTCATTGGACAACGCCTATCACCGGAGCTGGCCTCCATTGGGGACGGCCCCCCGGACACACCCCGGTGCCTCGCGCCGCTCACTGGCAGACCCCACTTCCGCCTCTGCGCTCTCAGCTCCCGGCGTCCCTGGGGGTAGCCGGGTGCGCGGCCCCTGGACCCTGCGCCCCGAGTGACCTTGGCTGAGCTTGGGACTTCCTCATGCTGCCAGCACCGAGGCCGCCTGTTCCGTCCGCTGAGAGCGCGGTGCAGGAAGGGCGCTGCTCCAGGACCGAAGGCACCCGTGTCCGTGGACGGTGCACAGGCCACACTCTGGCCCGGACCCTGCTTTCACCAGGGGTCCTCCGACCTCCGGCAGGTGCCTGCGGGGCTTGGAAATGCCAATTCTGGAGCCCCGAGCAGCCCCAACGAACCAGTTTCTCAGAAATCCCTAGTTTTTATAGGCTGCCCAGGTGGGAGCCTCTTAACCCAACCTTGCCATCCGTGGTCCCCAAAAAGCATCTGCAGGAGCAGGCACAAAGGAAGCAGCCTCTCCCGCCACACGCAAGCAGGTTCACCAGGGCAGGGCCCTGCATGCTTGGAGAGCTCTCCAATGCATTCAGAGCCAAAAAAAAAAAAAAAAAGCCAGGGTAACGGTGGGCCCCATAGGGCCGACCCCTGTGTCTGATTATTCCACCCTGCTGCCACGTTAAGGTTACTCCTCTCCCATCGGTTGAACGTCCCCTCATCAAGGCTCCGGATACCATGACCCTGAGGGCACAGCCTCCCGGCTGACAAGTCCCTTCTGCCCCAGGGAGGGCTTCAGAGTGCTTCCACAGCCTTTCAAGCCTGCAGACAATAGGGAGATCGCTTGGAGTCACGGGGAGAAGGGGAATTG | GAGGCTGTGGCTATCAGACTGACCCCACCTTGATGGGCTGGGGTGATGCTCGGGCGAGGGTCGGGGAGATAGACCCACGTGGCTCCAGGAGTGGGAGGGGCCCTGGACCCAGCCCCAAGCCCCCACTGGAAGCACCTCAGGAGGGTTAGCACGGATGCCTGGGCCGGCAGATAGAGCCGGCAGGGGCACCAACGCCCTGGTTCCAGGAGGGGAGTATGGCACAGGGAGAGGCGCAATGCCAAGGCCAATCCCGGGCAGGAAGCAAACAGAGGGAGGCAGCAGCCTATCTGCTGAGGGAGCCTGCAAGGTCCCATCCCCAGCCTGGGGAAACTGAGGCTGGAGGACAGCCCGCCTCAGGGGTGAGCCTAGCCAGCAATGGCTCTGGGGCAGTGCCTGGATAGGAAGACCCAAGGGAGGCGCCCCAGGCGCCCCCCCTCAGTCCCCAGGAAAGGTACACCTGCTTCCTGACAGGTCACCGCAGACCGGGAAGTCACATGGAGCTGCCCTTGGAATTTGCCCCAGGGAACAAATACAGGTGCAGGAATTACCAGAAAGAATCTGAAGATTTTTTTTCCTGTGCCCAGAGGATTCCAGGCCACTGGCCAAGAGGGAGACTCCCCTGCCTGGCTGGCTCAGAGCCTCCGAAGGCCCCTTCTCCCCAGCAAGCTTCCCAGGCCCAGAACAGGCATACACGGCACTCCTGCCCAGCTCCCAACCAGTGTGCCTTCTGGGGAGCTGATGGCCCTCTCCCAACTGGCTGGTGGGCTGCACCCCAAGGCTGACTGTGATGCGAGGATCCAGCCAACCCCGATCATCTGGCCCTTCCCATTCATAGCGTGGCGCCTGGCGCCCATGCAGCGGGCCTCCAGGAGACCATGTGAGGCCACCCCTCAAAGCCAAGCCCAGGGAGGAACCCACAAGCCCAGGTCTGCTTCTTTCAGCTGGACTCACAAAGGGACAGACCCGCCCAGCTAATTCCAGATGAGCCACAACAACTGGCAAGGGACATAGCACTGTCTGCCCTGTCGCTCTCCAGCAGCCTGGCAAGGCACACAGCAGGCCAGCTGTCCCCACGGCCCAAGTCAGGGGGCTCCACTGGGGCCCTGGACCCAGCACGGCCCACCCAGCCCCAGCTCGCCTCAAGTCCATGTAGAAACCATCCTTTGCCCAGGCCAAGCGTCCTGGGATCAGGGCAGGTGCTGCCCCCACAGTTCTGTGAGCTGTCACTCTCTCCCTGCCAGCCAGTGGCCCTGCCCCCACCACTGACCTTCTTTCTTGAGGAGCCAGCCTTGGTGAGGCAGGACTTCTGCAGGGCCAGGTAGCCGCCAATCACCTCGATCTCATGCACGGTGGGGTAGCGCTTCTTCAACGTGGGCCCCAGGAGGCAACTAGCCTCCTCCTCCTCGGCCTCCCGTGGCCGAGGCTCCCTGTTGGCCTGACTGAAGTGCTGGTCCTGCAGAGTCCCTGGCTTCCTCTTGGGCACCACTGTGAAGGTGTTGCTGCCCCGGGGCTGAAGCTCTGCCACGCACCCGGGCCTGGCAGGGTGCAGAGGCCTGGCAGGGTGCGGGAGGTAGGGTAGTTTGGCTGCTTGGGGGGCCTCCTCCGAGTCTACCTCATCGATGAAGGTGACAGGCAGCCCCGGCCTCACATATTCCCGGCTATTCTTGGCCAAGCCAGGAACCCTGAGGCCCTCAGCAGGCTCAGCTTCTTCCGAAGCAGCCGGCAGGAAGGGGGGCGGTGAGGACGGCCTCTGCCACCTAATAGCCCGGTCAGCGAGGGCGGTGGCTGTCCTGGGACAGGCCCCCTCCTCGACTGCCCACTGTGCCTCGACCTCCAGGGGGCTCTTCCCGAGGGCAGGCGCACCATCCCCTCCAGGCACCGGCTGGGATCCGAGCTCCTGGCTCGGGGAGGCCGGGCCCAGGTCTCCCTTTGGCAGCTCCACGGACTGCCTCCCCTCAGGAGGAGGAGCCCCGGAGGCCTTGCTCTTGGGGATGACCATGAAAGAATTTCGAGAGTTTGCGCGGAGGCTGGCCAGCGCCCGGGCCTGGAGGGTCCCCCAAGGGGATGGTCTCCATAACTGGCTTGGGGGCCGGCCGTATCTCGAAGGAGTCGTTGGTGCTGGTGGCTGCGGAGACGCACTGGCGCTGGCTAGGAGTGGCACTGGCAGGGGGTGAGGCTGGAGTGGCACTCGGGGTCCCGGGGCTGGGGGGCGGGTGGAGGGAGGGATCCCCCGACTCCACCTTTGGCTTCCACTGTCCCGACCCAGGCGGGGAGCCCGCGAGGCGGTTGGCAGGGCCGGCCCGGGGCTCAGGGGCCGAGTGCCCGTTGGAGAGCAGGCGGGCGCCCGCGCCGCGGTGCAGACCCCGGGGGTGGACGGTGAAGGAGTTGCTGCCGGTCTTCTGGAGGAAGTCGCTGCGCCGGGCCCCGGGGCTCGCCCCGCCACCGCGGGGCCCGGGCGCGGCGGGCGGGCTGGGGGCCGCGGGCGGGGGCCGGGGCGGCGCGGGCGGCGGCGGCGGCGGCGGGGGGCGGGCGCGCTCGGGGCTCCCGCGGCGGCGCGGCGCGGCGGGCGGGTCGAACCTCTCCAGTAGGCGGCTGACGCGGCCGGGCGGCGCCCCGTACACCAGCACCTCGGCGGCGCGGATCTGCGCGGCCCCCGGGGCGGGCGGCGCGGGCGGGAAGCCGGGCACCGTCTCGATGATGAGGACGCTGTCGGCGCGGAGGGCGCGCACGCCAGGCACGCGGCGGTACCGCTCCAGCAGCCGCGCCCCCGCCGCGCCCCCGCCGCGCCGCCGCTCGGCCTCCAGCAGCATGAACGGGTTCTCGCGCAGCGGGCCCAGGCTCTCGGCCAGCACCCGCTGCTCGGGCTCCGCCGCCCCGGGCCCCGCGCCCCCGCCCAGCGCGGCTAGCTTGGCCCGCTTCCGCTCCAGGATCTCACGCTTCCAAGCGGGCACCGCAGCGCGCGGCCCCGAGCCCGGCCGCCCCAGGGCGGCCATGCTGCGAACGCGGCAGCGGACGGCTGGACTGAGGGCCGGAGTGGCAGCCGCCGCCGCGGCCAGCCTGGGCGCCGCGGCCACGCCCCCTCCCGGGCCACCGACCATTGGGGAAAGCCCGCTCTCCCCGCCCCGTGCGGGAGGCCCACCTATGGCAGGGGAGGAGGGCGGGCCCCTCAAGTGACCCTACCGATTGGACAACACTCGCCTCAACCCCGCCTCCCAAGGGACTTCATTGGACAACGCCTATCACCGGAGCTGGCCTCCATTGGGGACGGCCCCCCGGACACACCCCGGTGCCTCGCGCCGCTCACTGGCAGACCCCACTTCCGCCTCTGCGCTCTCAGCTCCCGGCGTCCCTGGGGGTAGCCGGGTGCGCGGCCCCTGGACCCTGCGCCCCGAGTGACCTTGGCTGAGCTTGGGACTTCCTCATGCTGCCAGCACCGAGGCCGCCTGTTCCGTCCGCTGAGAGCGCGGTGCAGGAAGGGCGCTGCTCCAGGACCGAAGGCACCCGTGTCCGTGGACGGTGCACAGGCCACACTCTGGCCCGGACCCTGCTTTCACCAGGGGTCCTCCGACCTCCGGCAGGTGCCTGCGGGGCTTGGAAATGCCAATTCTGGAGCCCCGAGCAGCCCCAACGAACCAGTTTCTCAGAAATCCCTAGTTTTTATAGGCTGCCCAGGTGGGAGCCTCTTAACCCAACCTTGCCATCCGTGGTCCCCAAAAAGCATCTGCAGGAGCAGGCACAAAGGAAGCAGCCTCTCCCGCCACACGCAAGCAGGTTCACCAGGGCAGGGCCCTGCATGCTTGGAGAGCTCTCCAATGCATTCAGAGCCAAAAAAAAAAAAAAAAAGCCAGGGTAACGGTGGGCCCCATAGGGCCGACCCCTGTGTCTGATTATTCCACCCTGCTGCCACGTTAAGGTTACTCCTCTCCCATCGGTTGAACGTCCCCTCATCAAGGCTCCGGATACCATGACCCTGAGGGCACAGCCTCCCGGCTGACAAGTCCCTTCTGCCCCAGGGAGGGCTTCAGAGTGCTTCCACAGCCTTTCAAGCCTGCAGACAATAGGGAGATCGCTTGGAGTCACGGGGAGAAGGGGAATT | pathogenic | 156,365 |
Evaluate the clinical significance of the mutation at chromosome 9, position 137200476 in gene TPRN (taperin): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Ear_malformation'] | CTCCCAACCAGTGTGCCTTCTGGGGAGCTGATGGCCCTCTCCCAACTGGCTGGTGGGCTGCACCCCAAGGCTGACTGTGATGCGAGGATCCAGCCAACCCCGATCATCTGGCCCTTCCCATTCATAGCGTGGCGCCTGGCGCCCATGCAGCGGGCCTCCAGGAGACCATGTGAGGCCACCCCTCAAAGCCAAGCCCAGGGAGGAACCCACAAGCCCAGGTCTGCTTCTTTCAGCTGGACTCACAAAGGGACAGACCCGCCCAGCTAATTCCAGATGAGCCACAACAACTGGCAAGGGACATAGCACTGTCTGCCCTGTCGCTCTCCAGCAGCCTGGCAAGGCACACAGCAGGCCAGCTGTCCCCACGGCCCAAGTCAGGGGGCTCCACTGGGGCCCTGGACCCAGCACGGCCCACCCAGCCCCAGCTCGCCTCAAGTCCATGTAGAAACCATCCTTTGCCCAGGCCAAGCGTCCTGGGATCAGGGCAGGTGCTGCCCCCACAGTTCTGTGAGCTGTCACTCTCTCCCTGCCAGCCAGTGGCCCTGCCCCCACCACTGACCTTCTTTCTTGAGGAGCCAGCCTTGGTGAGGCAGGACTTCTGCAGGGCCAGGTAGCCGCCAATCACCTCGATCTCATGCACGGTGGGGTAGCGCTTCTTCAACGTGGGCCCCAGGAGGCAACTAGCCTCCTCCTCCTCGGCCTCCCGTGGCCGAGGCTCCCTGTTGGCCTGACTGAAGTGCTGGTCCTGCAGAGTCCCTGGCTTCCTCTTGGGCACCACTGTGAAGGTGTTGCTGCCCCGGGGCTGAAGCTCTGCCACGCACCCGGGCCTGGCAGGGTGCAGAGGCCTGGCAGGGTGCGGGAGGTAGGGTAGTTTGGCTGCTTGGGGGGCCTCCTCCGAGTCTACCTCATCGATGAAGGTGACAGGCAGCCCCGGCCTCACATATTCCCGGCTATTCTTGGCCAAGCCAGGAACCCTGAGGCCCTCAGCAGGCTCAGCTTCTTCCGAAGCAGCCGGCAGGAAGGGGGGCGGTGAGGACGGCCTCTGCCACCTAATAGCCCGGTCAGCGAGGGCGGTGGCTGTCCTGGGACAGGCCCCCTCCTCGACTGCCCACTGTGCCTCGACCTCCAGGGGGCTCTTCCCGAGGGCAGGCGCACCATCCCCTCCAGGCACCGGCTGGGATCCGAGCTCCTGGCTCGGGGAGGCCGGGCCCAGGTCTCCCTTTGGCAGCTCCACGGACTGCCTCCCCTCAGGAGGAGGAGCCCCGGAGGCCTTGCTCTTGGGGATGACCATGAAAGAATTTCGAGAGTTTGCGCGGAGGCTGGCCAGCGCCCGGGCCTGGAGGTCCCCCAAGGGGATGGTCTCCATAACTGGCTTGGGGGCCGGCCGTATCTCGAAGGAGTCGTTGGTGCTGGTGGCTGCGGAGACGCACTGGCGCTGGCTAGGAGTGGCACTGGCAGGGGGTGAGGCTGGAGTGGCACTCGGGGTCCCGGGGCTGGGGGGCGGGTGGAGGGAGGGATCCCCCGACTCCACCTTTGGCTTCCACTGTCCCGACCCAGGCGGGGAGCCCGCGAGGCGGTTGGCAGGGCCGGCCCGGGGCTCAGGGGCCGAGTGCCCGTTGGAGAGCAGGCGGGCGCCCGCGCCGCGGTGCAGACCCCGGGGGTGGACGGTGAAGGAGTTGCTGCCGGTCTTCTGGAGGAAGTCGCTGCGCCGGGCCCCGGGGCTCGCCCCGCCACCGCGGGGCCCGGGCGCGGCGGGCGGGCTGGGGGCCGCGGGCGGGGGCCGGGGCGGCGCGGGCGGCGGCGGCGGCGGCGGGGGGCGGGCGCGCTCGGGGCTCCCGCGGCGGCGCGGCGCGGCGGGCGGGTCGAACCTCTCCAGTAGGCGGCTGACGCGGCCGGGCGGCGCCCCGTACACCAGCACCTCGGCGGCGCGGATCTGCGCGGCCCCCGGGGCGGGCGGCGCGGGCGGGAAGCCGGGCACCGTCTCGATGATGAGGACGCTGTCGGCGCGGAGGGCGCGCACGCCAGGCACGCGGCGGTACCGCTCCAGCAGCCGCGCCCCCGCCGCGCCCCCGCCGCGCCGCCGCTCGGCCTCCAGCAGCATGAACGGGTTCTCGCGCAGCGGGCCCAGGCTCTCGGCCAGCACCCGCTGCTCGGGCTCCGCCGCCCCGGGCCCCGCGCCCCCGCCCAGCGCGGCTAGCTTGGCCCGCTTCCGCTCCAGGATCTCACGCTTCCAAGCGGGCACCGCAGCGCGCGGCCCCGAGCCCGGCCGCCCCAGGGCGGCCATGCTGCGAACGCGGCAGCGGACGGCTGGACTGAGGGCCGGAGTGGCAGCCGCCGCCGCGGCCAGCCTGGGCGCCGCGGCCACGCCCCCTCCCGGGCCACCGACCATTGGGGAAAGCCCGCTCTCCCCGCCCCGTGCGGGAGGCCCACCTATGGCAGGGGAGGAGGGCGGGCCCCTCAAGTGACCCTACCGATTGGACAACACTCGCCTCAACCCCGCCTCCCAAGGGACTTCATTGGACAACGCCTATCACCGGAGCTGGCCTCCATTGGGGACGGCCCCCCGGACACACCCCGGTGCCTCGCGCCGCTCACTGGCAGACCCCACTTCCGCCTCTGCGCTCTCAGCTCCCGGCGTCCCTGGGGGTAGCCGGGTGCGCGGCCCCTGGACCCTGCGCCCCGAGTGACCTTGGCTGAGCTTGGGACTTCCTCATGCTGCCAGCACCGAGGCCGCCTGTTCCGTCCGCTGAGAGCGCGGTGCAGGAAGGGCGCTGCTCCAGGACCGAAGGCACCCGTGTCCGTGGACGGTGCACAGGCCACACTCTGGCCCGGACCCTGCTTTCACCAGGGGTCCTCCGACCTCCGGCAGGTGCCTGCGGGGCTTGGAAATGCCAATTCTGGAGCCCCGAGCAGCCCCAACGAACCAGTTTCTCAGAAATCCCTAGTTTTTATAGGCTGCCCAGGTGGGAGCCTCTTAACCCAACCTTGCCATCCGTGGTCCCCAAAAAGCATCTGCAGGAGCAGGCACAAAGGAAGCAGCCTCTCCCGCCACACGCAAGCAGGTTCACCAGGGCAGGGCCCTGCATGCTTGGAGAGCTCTCCAATGCATTCAGAGCCAAAAAAAAAAAAAAAAAGCCAGGGTAACGGTGGGCCCCATAGGGCCGACCCCTGTGTCTGATTATTCCACCCTGCTGCCACGTTAAGGTTACTCCTCTCCCATCGGTTGAACGTCCCCTCATCAAGGCTCCGGATACCATGACCCTGAGGGCACAGCCTCCCGGCTGACAAGTCCCTTCTGCCCCAGGGAGGGCTTCAGAGTGCTTCCACAGCCTTTCAAGCCTGCAGACAATAGGGAGATCGCTTGGAGTCACGGGGAGAAGGGGAATTGGAGTGCACGGACATCACCTTCTTTCCATCACCTGCCCTGCAGTCAGCAGCCTGCTCAGTAGACACTGCTGTTTCCCACACCAAGGTCGCCTGGGTCTCTGCAATGATGCAGAACAGATTTTTTTTTTTTAACTTGGGGATGCCCTTCTCAGCTTCTGTGCCCCATGACAGTCTGCAGCAGCCGCTAGCTTAATGCTTGCCTTATTCTCCTGCCACTCCATTAAGCTGGAGAAAATAAACTTTTTCTTTTTCTTTTTTTTTTGAGATAGAGTCTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTACAACCTCCGCCTCCAGGATTCAAGCGATTCTCCTGCCTTCGCCTCCCAAGTAGCTGGGGTTACAGGTGCCCACCACAACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCATGATCTGCCTGCCTTGGCCTCCCAAACTGCTGGGATTACAGGCGTGAGCCACTGGGCCTGGCCAGAATAAACTTTCATTTCAGCTTTCCAGAAGCCAAGTGTCTCCTCCCTTAGGGCCCTCCTCAAATCACCTTTCTAAAGGAAGCATCTGATGTTCATCACTTCTACCCTAGTAGGGTTGCCCAATTCTGAACTACCAAAATAAAACAGGGGAACACACAAAACACAA | CTCCCAACCAGTGTGCCTTCTGGGGAGCTGATGGCCCTCTCCCAACTGGCTGGTGGGCTGCACCCCAAGGCTGACTGTGATGCGAGGATCCAGCCAACCCCGATCATCTGGCCCTTCCCATTCATAGCGTGGCGCCTGGCGCCCATGCAGCGGGCCTCCAGGAGACCATGTGAGGCCACCCCTCAAAGCCAAGCCCAGGGAGGAACCCACAAGCCCAGGTCTGCTTCTTTCAGCTGGACTCACAAAGGGACAGACCCGCCCAGCTAATTCCAGATGAGCCACAACAACTGGCAAGGGACATAGCACTGTCTGCCCTGTCGCTCTCCAGCAGCCTGGCAAGGCACACAGCAGGCCAGCTGTCCCCACGGCCCAAGTCAGGGGGCTCCACTGGGGCCCTGGACCCAGCACGGCCCACCCAGCCCCAGCTCGCCTCAAGTCCATGTAGAAACCATCCTTTGCCCAGGCCAAGCGTCCTGGGATCAGGGCAGGTGCTGCCCCCACAGTTCTGTGAGCTGTCACTCTCTCCCTGCCAGCCAGTGGCCCTGCCCCCACCACTGACCTTCTTTCTTGAGGAGCCAGCCTTGGTGAGGCAGGACTTCTGCAGGGCCAGGTAGCCGCCAATCACCTCGATCTCATGCACGGTGGGGTAGCGCTTCTTCAACGTGGGCCCCAGGAGGCAACTAGCCTCCTCCTCCTCGGCCTCCCGTGGCCGAGGCTCCCTGTTGGCCTGACTGAAGTGCTGGTCCTGCAGAGTCCCTGGCTTCCTCTTGGGCACCACTGTGAAGGTGTTGCTGCCCCGGGGCTGAAGCTCTGCCACGCACCCGGGCCTGGCAGGGTGCAGAGGCCTGGCAGGGTGCGGGAGGTAGGGTAGTTTGGCTGCTTGGGGGGCCTCCTCCGAGTCTACCTCATCGATGAAGGTGACAGGCAGCCCCGGCCTCACATATTCCCGGCTATTCTTGGCCAAGCCAGGAACCCTGAGGCCCTCAGCAGGCTCAGCTTCTTCCGAAGCAGCCGGCAGGAAGGGGGGCGGTGAGGACGGCCTCTGCCACCTAATAGCCCGGTCAGCGAGGGCGGTGGCTGTCCTGGGACAGGCCCCCTCCTCGACTGCCCACTGTGCCTCGACCTCCAGGGGGCTCTTCCCGAGGGCAGGCGCACCATCCCCTCCAGGCACCGGCTGGGATCCGAGCTCCTGGCTCGGGGAGGCCGGGCCCAGGTCTCCCTTTGGCAGCTCCACGGACTGCCTCCCCTCAGGAGGAGGAGCCCCGGAGGCCTTGCTCTTGGGGATGACCATGAAAGAATTTCGAGAGTTTGCGCGGAGGCTGGCCAGCGCCCGGGCCTGGAGGTCCCCCAAGGGGATGGTCTCCATAACTGGCTTGGGGGCCGGCCGTATCTCGAAGGAGTCGTTGGTGCTGGTGGCTGCGGAGACGCACTGGCGCTGGCTAGGAGTGGCACTGGCAGGGGGTGAGGCTGGAGTGGCACTCGGGGTCCCGGGGCTGGGGGGCGGGTGGAGGGAGGGATCCCCCGACTCCACCTTTGGCTTCCACTGTCCCGACCCAGGCGGGGAGCCCGCGAGGCGGTTGGCAGGGCCGGCCCGGGGCTCAGGGGCCGAGTGCCCGTTGGAGAGCAGGCGGGCGCCCGCGCCGCGGTGCAGACCCCGGGGGTGGACGGTGAAGGAGTTGCTGCCGGTCTTCTGGAGGAAGTCGCTGCGCCGGGCCCCGGGGCTCGCCCCGCCACCGCGGGGCCCGGGCGCGGCGGGCGGGCTGGGGGCCGCGGGCGGGGGCCGGGGCGGCGCGGGCGGCGGCGGCGGCGGCGGGGGGCGGGCGCGCTCGGGGCTCCCGCGGCGGCGCGGCGCGGCGGGCGGGTCGAACCTCTCCAGTAGGCGGCTGACGCGGCCGGGCGGCGCCCCGTACACCAGCACCTCGGCGGCGCGGATCTGCGCGGCCCCCGGGGCGGGCGGCGCGGGCGGGAAGCCGGGCACCGTCTCGATGATGAGGACGCTGTCGGCGCGGAGGGCGCGCACGCCAGGCACGCGGCGGTACCGCTCCAGCAGCCGCGCCCCCGCCGCGCCCCCGCCGCGCCCCCGCCGCGCCGCCGCTCGGCCTCCAGCAGCATGAACGGGTTCTCGCGCAGCGGGCCCAGGCTCTCGGCCAGCACCCGCTGCTCGGGCTCCGCCGCCCCGGGCCCCGCGCCCCCGCCCAGCGCGGCTAGCTTGGCCCGCTTCCGCTCCAGGATCTCACGCTTCCAAGCGGGCACCGCAGCGCGCGGCCCCGAGCCCGGCCGCCCCAGGGCGGCCATGCTGCGAACGCGGCAGCGGACGGCTGGACTGAGGGCCGGAGTGGCAGCCGCCGCCGCGGCCAGCCTGGGCGCCGCGGCCACGCCCCCTCCCGGGCCACCGACCATTGGGGAAAGCCCGCTCTCCCCGCCCCGTGCGGGAGGCCCACCTATGGCAGGGGAGGAGGGCGGGCCCCTCAAGTGACCCTACCGATTGGACAACACTCGCCTCAACCCCGCCTCCCAAGGGACTTCATTGGACAACGCCTATCACCGGAGCTGGCCTCCATTGGGGACGGCCCCCCGGACACACCCCGGTGCCTCGCGCCGCTCACTGGCAGACCCCACTTCCGCCTCTGCGCTCTCAGCTCCCGGCGTCCCTGGGGGTAGCCGGGTGCGCGGCCCCTGGACCCTGCGCCCCGAGTGACCTTGGCTGAGCTTGGGACTTCCTCATGCTGCCAGCACCGAGGCCGCCTGTTCCGTCCGCTGAGAGCGCGGTGCAGGAAGGGCGCTGCTCCAGGACCGAAGGCACCCGTGTCCGTGGACGGTGCACAGGCCACACTCTGGCCCGGACCCTGCTTTCACCAGGGGTCCTCCGACCTCCGGCAGGTGCCTGCGGGGCTTGGAAATGCCAATTCTGGAGCCCCGAGCAGCCCCAACGAACCAGTTTCTCAGAAATCCCTAGTTTTTATAGGCTGCCCAGGTGGGAGCCTCTTAACCCAACCTTGCCATCCGTGGTCCCCAAAAAGCATCTGCAGGAGCAGGCACAAAGGAAGCAGCCTCTCCCGCCACACGCAAGCAGGTTCACCAGGGCAGGGCCCTGCATGCTTGGAGAGCTCTCCAATGCATTCAGAGCCAAAAAAAAAAAAAAAAAGCCAGGGTAACGGTGGGCCCCATAGGGCCGACCCCTGTGTCTGATTATTCCACCCTGCTGCCACGTTAAGGTTACTCCTCTCCCATCGGTTGAACGTCCCCTCATCAAGGCTCCGGATACCATGACCCTGAGGGCACAGCCTCCCGGCTGACAAGTCCCTTCTGCCCCAGGGAGGGCTTCAGAGTGCTTCCACAGCCTTTCAAGCCTGCAGACAATAGGGAGATCGCTTGGAGTCACGGGGAGAAGGGGAATTGGAGTGCACGGACATCACCTTCTTTCCATCACCTGCCCTGCAGTCAGCAGCCTGCTCAGTAGACACTGCTGTTTCCCACACCAAGGTCGCCTGGGTCTCTGCAATGATGCAGAACAGATTTTTTTTTTTTAACTTGGGGATGCCCTTCTCAGCTTCTGTGCCCCATGACAGTCTGCAGCAGCCGCTAGCTTAATGCTTGCCTTATTCTCCTGCCACTCCATTAAGCTGGAGAAAATAAACTTTTTCTTTTTCTTTTTTTTTTGAGATAGAGTCTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTACAACCTCCGCCTCCAGGATTCAAGCGATTCTCCTGCCTTCGCCTCCCAAGTAGCTGGGGTTACAGGTGCCCACCACAACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCATGATCTGCCTGCCTTGGCCTCCCAAACTGCTGGGATTACAGGCGTGAGCCACTGGGCCTGGCCAGAATAAACTTTCATTTCAGCTTTCCAGAAGCCAAGTGTCTCCTCCCTTAGGGCCCTCCTCAAATCACCTTTCTAAAGGAAGCATCTGATGTTCATCACTTCTACCCTAGTAGGGTTGCCCAATTCTGAACTACCAAAATAAAACAGGGGAACAC | pathogenic | 156,373 |
Determine if the mutation at chromosome 9, position 137200476 in gene TPRN (taperin) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_79', 'Rare_genetic_deafness', 'TPRN-related_disorder'] | CTCCCAACCAGTGTGCCTTCTGGGGAGCTGATGGCCCTCTCCCAACTGGCTGGTGGGCTGCACCCCAAGGCTGACTGTGATGCGAGGATCCAGCCAACCCCGATCATCTGGCCCTTCCCATTCATAGCGTGGCGCCTGGCGCCCATGCAGCGGGCCTCCAGGAGACCATGTGAGGCCACCCCTCAAAGCCAAGCCCAGGGAGGAACCCACAAGCCCAGGTCTGCTTCTTTCAGCTGGACTCACAAAGGGACAGACCCGCCCAGCTAATTCCAGATGAGCCACAACAACTGGCAAGGGACATAGCACTGTCTGCCCTGTCGCTCTCCAGCAGCCTGGCAAGGCACACAGCAGGCCAGCTGTCCCCACGGCCCAAGTCAGGGGGCTCCACTGGGGCCCTGGACCCAGCACGGCCCACCCAGCCCCAGCTCGCCTCAAGTCCATGTAGAAACCATCCTTTGCCCAGGCCAAGCGTCCTGGGATCAGGGCAGGTGCTGCCCCCACAGTTCTGTGAGCTGTCACTCTCTCCCTGCCAGCCAGTGGCCCTGCCCCCACCACTGACCTTCTTTCTTGAGGAGCCAGCCTTGGTGAGGCAGGACTTCTGCAGGGCCAGGTAGCCGCCAATCACCTCGATCTCATGCACGGTGGGGTAGCGCTTCTTCAACGTGGGCCCCAGGAGGCAACTAGCCTCCTCCTCCTCGGCCTCCCGTGGCCGAGGCTCCCTGTTGGCCTGACTGAAGTGCTGGTCCTGCAGAGTCCCTGGCTTCCTCTTGGGCACCACTGTGAAGGTGTTGCTGCCCCGGGGCTGAAGCTCTGCCACGCACCCGGGCCTGGCAGGGTGCAGAGGCCTGGCAGGGTGCGGGAGGTAGGGTAGTTTGGCTGCTTGGGGGGCCTCCTCCGAGTCTACCTCATCGATGAAGGTGACAGGCAGCCCCGGCCTCACATATTCCCGGCTATTCTTGGCCAAGCCAGGAACCCTGAGGCCCTCAGCAGGCTCAGCTTCTTCCGAAGCAGCCGGCAGGAAGGGGGGCGGTGAGGACGGCCTCTGCCACCTAATAGCCCGGTCAGCGAGGGCGGTGGCTGTCCTGGGACAGGCCCCCTCCTCGACTGCCCACTGTGCCTCGACCTCCAGGGGGCTCTTCCCGAGGGCAGGCGCACCATCCCCTCCAGGCACCGGCTGGGATCCGAGCTCCTGGCTCGGGGAGGCCGGGCCCAGGTCTCCCTTTGGCAGCTCCACGGACTGCCTCCCCTCAGGAGGAGGAGCCCCGGAGGCCTTGCTCTTGGGGATGACCATGAAAGAATTTCGAGAGTTTGCGCGGAGGCTGGCCAGCGCCCGGGCCTGGAGGTCCCCCAAGGGGATGGTCTCCATAACTGGCTTGGGGGCCGGCCGTATCTCGAAGGAGTCGTTGGTGCTGGTGGCTGCGGAGACGCACTGGCGCTGGCTAGGAGTGGCACTGGCAGGGGGTGAGGCTGGAGTGGCACTCGGGGTCCCGGGGCTGGGGGGCGGGTGGAGGGAGGGATCCCCCGACTCCACCTTTGGCTTCCACTGTCCCGACCCAGGCGGGGAGCCCGCGAGGCGGTTGGCAGGGCCGGCCCGGGGCTCAGGGGCCGAGTGCCCGTTGGAGAGCAGGCGGGCGCCCGCGCCGCGGTGCAGACCCCGGGGGTGGACGGTGAAGGAGTTGCTGCCGGTCTTCTGGAGGAAGTCGCTGCGCCGGGCCCCGGGGCTCGCCCCGCCACCGCGGGGCCCGGGCGCGGCGGGCGGGCTGGGGGCCGCGGGCGGGGGCCGGGGCGGCGCGGGCGGCGGCGGCGGCGGCGGGGGGCGGGCGCGCTCGGGGCTCCCGCGGCGGCGCGGCGCGGCGGGCGGGTCGAACCTCTCCAGTAGGCGGCTGACGCGGCCGGGCGGCGCCCCGTACACCAGCACCTCGGCGGCGCGGATCTGCGCGGCCCCCGGGGCGGGCGGCGCGGGCGGGAAGCCGGGCACCGTCTCGATGATGAGGACGCTGTCGGCGCGGAGGGCGCGCACGCCAGGCACGCGGCGGTACCGCTCCAGCAGCCGCGCCCCCGCCGCGCCCCCGCCGCGCCGCCGCTCGGCCTCCAGCAGCATGAACGGGTTCTCGCGCAGCGGGCCCAGGCTCTCGGCCAGCACCCGCTGCTCGGGCTCCGCCGCCCCGGGCCCCGCGCCCCCGCCCAGCGCGGCTAGCTTGGCCCGCTTCCGCTCCAGGATCTCACGCTTCCAAGCGGGCACCGCAGCGCGCGGCCCCGAGCCCGGCCGCCCCAGGGCGGCCATGCTGCGAACGCGGCAGCGGACGGCTGGACTGAGGGCCGGAGTGGCAGCCGCCGCCGCGGCCAGCCTGGGCGCCGCGGCCACGCCCCCTCCCGGGCCACCGACCATTGGGGAAAGCCCGCTCTCCCCGCCCCGTGCGGGAGGCCCACCTATGGCAGGGGAGGAGGGCGGGCCCCTCAAGTGACCCTACCGATTGGACAACACTCGCCTCAACCCCGCCTCCCAAGGGACTTCATTGGACAACGCCTATCACCGGAGCTGGCCTCCATTGGGGACGGCCCCCCGGACACACCCCGGTGCCTCGCGCCGCTCACTGGCAGACCCCACTTCCGCCTCTGCGCTCTCAGCTCCCGGCGTCCCTGGGGGTAGCCGGGTGCGCGGCCCCTGGACCCTGCGCCCCGAGTGACCTTGGCTGAGCTTGGGACTTCCTCATGCTGCCAGCACCGAGGCCGCCTGTTCCGTCCGCTGAGAGCGCGGTGCAGGAAGGGCGCTGCTCCAGGACCGAAGGCACCCGTGTCCGTGGACGGTGCACAGGCCACACTCTGGCCCGGACCCTGCTTTCACCAGGGGTCCTCCGACCTCCGGCAGGTGCCTGCGGGGCTTGGAAATGCCAATTCTGGAGCCCCGAGCAGCCCCAACGAACCAGTTTCTCAGAAATCCCTAGTTTTTATAGGCTGCCCAGGTGGGAGCCTCTTAACCCAACCTTGCCATCCGTGGTCCCCAAAAAGCATCTGCAGGAGCAGGCACAAAGGAAGCAGCCTCTCCCGCCACACGCAAGCAGGTTCACCAGGGCAGGGCCCTGCATGCTTGGAGAGCTCTCCAATGCATTCAGAGCCAAAAAAAAAAAAAAAAAGCCAGGGTAACGGTGGGCCCCATAGGGCCGACCCCTGTGTCTGATTATTCCACCCTGCTGCCACGTTAAGGTTACTCCTCTCCCATCGGTTGAACGTCCCCTCATCAAGGCTCCGGATACCATGACCCTGAGGGCACAGCCTCCCGGCTGACAAGTCCCTTCTGCCCCAGGGAGGGCTTCAGAGTGCTTCCACAGCCTTTCAAGCCTGCAGACAATAGGGAGATCGCTTGGAGTCACGGGGAGAAGGGGAATTGGAGTGCACGGACATCACCTTCTTTCCATCACCTGCCCTGCAGTCAGCAGCCTGCTCAGTAGACACTGCTGTTTCCCACACCAAGGTCGCCTGGGTCTCTGCAATGATGCAGAACAGATTTTTTTTTTTTAACTTGGGGATGCCCTTCTCAGCTTCTGTGCCCCATGACAGTCTGCAGCAGCCGCTAGCTTAATGCTTGCCTTATTCTCCTGCCACTCCATTAAGCTGGAGAAAATAAACTTTTTCTTTTTCTTTTTTTTTTGAGATAGAGTCTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTACAACCTCCGCCTCCAGGATTCAAGCGATTCTCCTGCCTTCGCCTCCCAAGTAGCTGGGGTTACAGGTGCCCACCACAACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCATGATCTGCCTGCCTTGGCCTCCCAAACTGCTGGGATTACAGGCGTGAGCCACTGGGCCTGGCCAGAATAAACTTTCATTTCAGCTTTCCAGAAGCCAAGTGTCTCCTCCCTTAGGGCCCTCCTCAAATCACCTTTCTAAAGGAAGCATCTGATGTTCATCACTTCTACCCTAGTAGGGTTGCCCAATTCTGAACTACCAAAATAAAACAGGGGAACACACAAAACACAA | CTCCCAACCAGTGTGCCTTCTGGGGAGCTGATGGCCCTCTCCCAACTGGCTGGTGGGCTGCACCCCAAGGCTGACTGTGATGCGAGGATCCAGCCAACCCCGATCATCTGGCCCTTCCCATTCATAGCGTGGCGCCTGGCGCCCATGCAGCGGGCCTCCAGGAGACCATGTGAGGCCACCCCTCAAAGCCAAGCCCAGGGAGGAACCCACAAGCCCAGGTCTGCTTCTTTCAGCTGGACTCACAAAGGGACAGACCCGCCCAGCTAATTCCAGATGAGCCACAACAACTGGCAAGGGACATAGCACTGTCTGCCCTGTCGCTCTCCAGCAGCCTGGCAAGGCACACAGCAGGCCAGCTGTCCCCACGGCCCAAGTCAGGGGGCTCCACTGGGGCCCTGGACCCAGCACGGCCCACCCAGCCCCAGCTCGCCTCAAGTCCATGTAGAAACCATCCTTTGCCCAGGCCAAGCGTCCTGGGATCAGGGCAGGTGCTGCCCCCACAGTTCTGTGAGCTGTCACTCTCTCCCTGCCAGCCAGTGGCCCTGCCCCCACCACTGACCTTCTTTCTTGAGGAGCCAGCCTTGGTGAGGCAGGACTTCTGCAGGGCCAGGTAGCCGCCAATCACCTCGATCTCATGCACGGTGGGGTAGCGCTTCTTCAACGTGGGCCCCAGGAGGCAACTAGCCTCCTCCTCCTCGGCCTCCCGTGGCCGAGGCTCCCTGTTGGCCTGACTGAAGTGCTGGTCCTGCAGAGTCCCTGGCTTCCTCTTGGGCACCACTGTGAAGGTGTTGCTGCCCCGGGGCTGAAGCTCTGCCACGCACCCGGGCCTGGCAGGGTGCAGAGGCCTGGCAGGGTGCGGGAGGTAGGGTAGTTTGGCTGCTTGGGGGGCCTCCTCCGAGTCTACCTCATCGATGAAGGTGACAGGCAGCCCCGGCCTCACATATTCCCGGCTATTCTTGGCCAAGCCAGGAACCCTGAGGCCCTCAGCAGGCTCAGCTTCTTCCGAAGCAGCCGGCAGGAAGGGGGGCGGTGAGGACGGCCTCTGCCACCTAATAGCCCGGTCAGCGAGGGCGGTGGCTGTCCTGGGACAGGCCCCCTCCTCGACTGCCCACTGTGCCTCGACCTCCAGGGGGCTCTTCCCGAGGGCAGGCGCACCATCCCCTCCAGGCACCGGCTGGGATCCGAGCTCCTGGCTCGGGGAGGCCGGGCCCAGGTCTCCCTTTGGCAGCTCCACGGACTGCCTCCCCTCAGGAGGAGGAGCCCCGGAGGCCTTGCTCTTGGGGATGACCATGAAAGAATTTCGAGAGTTTGCGCGGAGGCTGGCCAGCGCCCGGGCCTGGAGGTCCCCCAAGGGGATGGTCTCCATAACTGGCTTGGGGGCCGGCCGTATCTCGAAGGAGTCGTTGGTGCTGGTGGCTGCGGAGACGCACTGGCGCTGGCTAGGAGTGGCACTGGCAGGGGGTGAGGCTGGAGTGGCACTCGGGGTCCCGGGGCTGGGGGGCGGGTGGAGGGAGGGATCCCCCGACTCCACCTTTGGCTTCCACTGTCCCGACCCAGGCGGGGAGCCCGCGAGGCGGTTGGCAGGGCCGGCCCGGGGCTCAGGGGCCGAGTGCCCGTTGGAGAGCAGGCGGGCGCCCGCGCCGCGGTGCAGACCCCGGGGGTGGACGGTGAAGGAGTTGCTGCCGGTCTTCTGGAGGAAGTCGCTGCGCCGGGCCCCGGGGCTCGCCCCGCCACCGCGGGGCCCGGGCGCGGCGGGCGGGCTGGGGGCCGCGGGCGGGGGCCGGGGCGGCGCGGGCGGCGGCGGCGGCGGCGGGGGGCGGGCGCGCTCGGGGCTCCCGCGGCGGCGCGGCGCGGCGGGCGGGTCGAACCTCTCCAGTAGGCGGCTGACGCGGCCGGGCGGCGCCCCGTACACCAGCACCTCGGCGGCGCGGATCTGCGCGGCCCCCGGGGCGGGCGGCGCGGGCGGGAAGCCGGGCACCGTCTCGATGATGAGGACGCTGTCGGCGCGGAGGGCGCGCACGCCAGGCACGCGGCGGTACCGCTCCAGCAGCCGCGCCCCCGCCGCGCCGCCGCTCGGCCTCCAGCAGCATGAACGGGTTCTCGCGCAGCGGGCCCAGGCTCTCGGCCAGCACCCGCTGCTCGGGCTCCGCCGCCCCGGGCCCCGCGCCCCCGCCCAGCGCGGCTAGCTTGGCCCGCTTCCGCTCCAGGATCTCACGCTTCCAAGCGGGCACCGCAGCGCGCGGCCCCGAGCCCGGCCGCCCCAGGGCGGCCATGCTGCGAACGCGGCAGCGGACGGCTGGACTGAGGGCCGGAGTGGCAGCCGCCGCCGCGGCCAGCCTGGGCGCCGCGGCCACGCCCCCTCCCGGGCCACCGACCATTGGGGAAAGCCCGCTCTCCCCGCCCCGTGCGGGAGGCCCACCTATGGCAGGGGAGGAGGGCGGGCCCCTCAAGTGACCCTACCGATTGGACAACACTCGCCTCAACCCCGCCTCCCAAGGGACTTCATTGGACAACGCCTATCACCGGAGCTGGCCTCCATTGGGGACGGCCCCCCGGACACACCCCGGTGCCTCGCGCCGCTCACTGGCAGACCCCACTTCCGCCTCTGCGCTCTCAGCTCCCGGCGTCCCTGGGGGTAGCCGGGTGCGCGGCCCCTGGACCCTGCGCCCCGAGTGACCTTGGCTGAGCTTGGGACTTCCTCATGCTGCCAGCACCGAGGCCGCCTGTTCCGTCCGCTGAGAGCGCGGTGCAGGAAGGGCGCTGCTCCAGGACCGAAGGCACCCGTGTCCGTGGACGGTGCACAGGCCACACTCTGGCCCGGACCCTGCTTTCACCAGGGGTCCTCCGACCTCCGGCAGGTGCCTGCGGGGCTTGGAAATGCCAATTCTGGAGCCCCGAGCAGCCCCAACGAACCAGTTTCTCAGAAATCCCTAGTTTTTATAGGCTGCCCAGGTGGGAGCCTCTTAACCCAACCTTGCCATCCGTGGTCCCCAAAAAGCATCTGCAGGAGCAGGCACAAAGGAAGCAGCCTCTCCCGCCACACGCAAGCAGGTTCACCAGGGCAGGGCCCTGCATGCTTGGAGAGCTCTCCAATGCATTCAGAGCCAAAAAAAAAAAAAAAAAGCCAGGGTAACGGTGGGCCCCATAGGGCCGACCCCTGTGTCTGATTATTCCACCCTGCTGCCACGTTAAGGTTACTCCTCTCCCATCGGTTGAACGTCCCCTCATCAAGGCTCCGGATACCATGACCCTGAGGGCACAGCCTCCCGGCTGACAAGTCCCTTCTGCCCCAGGGAGGGCTTCAGAGTGCTTCCACAGCCTTTCAAGCCTGCAGACAATAGGGAGATCGCTTGGAGTCACGGGGAGAAGGGGAATTGGAGTGCACGGACATCACCTTCTTTCCATCACCTGCCCTGCAGTCAGCAGCCTGCTCAGTAGACACTGCTGTTTCCCACACCAAGGTCGCCTGGGTCTCTGCAATGATGCAGAACAGATTTTTTTTTTTTAACTTGGGGATGCCCTTCTCAGCTTCTGTGCCCCATGACAGTCTGCAGCAGCCGCTAGCTTAATGCTTGCCTTATTCTCCTGCCACTCCATTAAGCTGGAGAAAATAAACTTTTTCTTTTTCTTTTTTTTTTGAGATAGAGTCTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTACAACCTCCGCCTCCAGGATTCAAGCGATTCTCCTGCCTTCGCCTCCCAAGTAGCTGGGGTTACAGGTGCCCACCACAACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCATGATCTGCCTGCCTTGGCCTCCCAAACTGCTGGGATTACAGGCGTGAGCCACTGGGCCTGGCCAGAATAAACTTTCATTTCAGCTTTCCAGAAGCCAAGTGTCTCCTCCCTTAGGGCCCTCCTCAAATCACCTTTCTAAAGGAAGCATCTGATGTTCATCACTTCTACCCTAGTAGGGTTGCCCAATTCTGAACTACCAAAATAAAACAGGGGAACACACAAAACACAANNNNNNNNNNN | pathogenic | 156,374 |
Variant chromosome 9, position 137200604, gene TPRN: benign or pathogenic? Disease(s)? | pathogenic; ['Rare_genetic_deafness'] | GTGGCGCCTGGCGCCCATGCAGCGGGCCTCCAGGAGACCATGTGAGGCCACCCCTCAAAGCCAAGCCCAGGGAGGAACCCACAAGCCCAGGTCTGCTTCTTTCAGCTGGACTCACAAAGGGACAGACCCGCCCAGCTAATTCCAGATGAGCCACAACAACTGGCAAGGGACATAGCACTGTCTGCCCTGTCGCTCTCCAGCAGCCTGGCAAGGCACACAGCAGGCCAGCTGTCCCCACGGCCCAAGTCAGGGGGCTCCACTGGGGCCCTGGACCCAGCACGGCCCACCCAGCCCCAGCTCGCCTCAAGTCCATGTAGAAACCATCCTTTGCCCAGGCCAAGCGTCCTGGGATCAGGGCAGGTGCTGCCCCCACAGTTCTGTGAGCTGTCACTCTCTCCCTGCCAGCCAGTGGCCCTGCCCCCACCACTGACCTTCTTTCTTGAGGAGCCAGCCTTGGTGAGGCAGGACTTCTGCAGGGCCAGGTAGCCGCCAATCACCTCGATCTCATGCACGGTGGGGTAGCGCTTCTTCAACGTGGGCCCCAGGAGGCAACTAGCCTCCTCCTCCTCGGCCTCCCGTGGCCGAGGCTCCCTGTTGGCCTGACTGAAGTGCTGGTCCTGCAGAGTCCCTGGCTTCCTCTTGGGCACCACTGTGAAGGTGTTGCTGCCCCGGGGCTGAAGCTCTGCCACGCACCCGGGCCTGGCAGGGTGCAGAGGCCTGGCAGGGTGCGGGAGGTAGGGTAGTTTGGCTGCTTGGGGGGCCTCCTCCGAGTCTACCTCATCGATGAAGGTGACAGGCAGCCCCGGCCTCACATATTCCCGGCTATTCTTGGCCAAGCCAGGAACCCTGAGGCCCTCAGCAGGCTCAGCTTCTTCCGAAGCAGCCGGCAGGAAGGGGGGCGGTGAGGACGGCCTCTGCCACCTAATAGCCCGGTCAGCGAGGGCGGTGGCTGTCCTGGGACAGGCCCCCTCCTCGACTGCCCACTGTGCCTCGACCTCCAGGGGGCTCTTCCCGAGGGCAGGCGCACCATCCCCTCCAGGCACCGGCTGGGATCCGAGCTCCTGGCTCGGGGAGGCCGGGCCCAGGTCTCCCTTTGGCAGCTCCACGGACTGCCTCCCCTCAGGAGGAGGAGCCCCGGAGGCCTTGCTCTTGGGGATGACCATGAAAGAATTTCGAGAGTTTGCGCGGAGGCTGGCCAGCGCCCGGGCCTGGAGGTCCCCCAAGGGGATGGTCTCCATAACTGGCTTGGGGGCCGGCCGTATCTCGAAGGAGTCGTTGGTGCTGGTGGCTGCGGAGACGCACTGGCGCTGGCTAGGAGTGGCACTGGCAGGGGGTGAGGCTGGAGTGGCACTCGGGGTCCCGGGGCTGGGGGGCGGGTGGAGGGAGGGATCCCCCGACTCCACCTTTGGCTTCCACTGTCCCGACCCAGGCGGGGAGCCCGCGAGGCGGTTGGCAGGGCCGGCCCGGGGCTCAGGGGCCGAGTGCCCGTTGGAGAGCAGGCGGGCGCCCGCGCCGCGGTGCAGACCCCGGGGGTGGACGGTGAAGGAGTTGCTGCCGGTCTTCTGGAGGAAGTCGCTGCGCCGGGCCCCGGGGCTCGCCCCGCCACCGCGGGGCCCGGGCGCGGCGGGCGGGCTGGGGGCCGCGGGCGGGGGCCGGGGCGGCGCGGGCGGCGGCGGCGGCGGCGGGGGGCGGGCGCGCTCGGGGCTCCCGCGGCGGCGCGGCGCGGCGGGCGGGTCGAACCTCTCCAGTAGGCGGCTGACGCGGCCGGGCGGCGCCCCGTACACCAGCACCTCGGCGGCGCGGATCTGCGCGGCCCCCGGGGCGGGCGGCGCGGGCGGGAAGCCGGGCACCGTCTCGATGATGAGGACGCTGTCGGCGCGGAGGGCGCGCACGCCAGGCACGCGGCGGTACCGCTCCAGCAGCCGCGCCCCCGCCGCGCCCCCGCCGCGCCGCCGCTCGGCCTCCAGCAGCATGAACGGGTTCTCGCGCAGCGGGCCCAGGCTCTCGGCCAGCACCCGCTGCTCGGGCTCCGCCGCCCCGGGCCCCGCGCCCCCGCCCAGCGCGGCTAGCTTGGCCCGCTTCCGCTCCAGGATCTCACGCTTCCAAGCGGGCACCGCAGCGCGCGGCCCCGAGCCCGGCCGCCCCAGGGCGGCCATGCTGCGAACGCGGCAGCGGACGGCTGGACTGAGGGCCGGAGTGGCAGCCGCCGCCGCGGCCAGCCTGGGCGCCGCGGCCACGCCCCCTCCCGGGCCACCGACCATTGGGGAAAGCCCGCTCTCCCCGCCCCGTGCGGGAGGCCCACCTATGGCAGGGGAGGAGGGCGGGCCCCTCAAGTGACCCTACCGATTGGACAACACTCGCCTCAACCCCGCCTCCCAAGGGACTTCATTGGACAACGCCTATCACCGGAGCTGGCCTCCATTGGGGACGGCCCCCCGGACACACCCCGGTGCCTCGCGCCGCTCACTGGCAGACCCCACTTCCGCCTCTGCGCTCTCAGCTCCCGGCGTCCCTGGGGGTAGCCGGGTGCGCGGCCCCTGGACCCTGCGCCCCGAGTGACCTTGGCTGAGCTTGGGACTTCCTCATGCTGCCAGCACCGAGGCCGCCTGTTCCGTCCGCTGAGAGCGCGGTGCAGGAAGGGCGCTGCTCCAGGACCGAAGGCACCCGTGTCCGTGGACGGTGCACAGGCCACACTCTGGCCCGGACCCTGCTTTCACCAGGGGTCCTCCGACCTCCGGCAGGTGCCTGCGGGGCTTGGAAATGCCAATTCTGGAGCCCCGAGCAGCCCCAACGAACCAGTTTCTCAGAAATCCCTAGTTTTTATAGGCTGCCCAGGTGGGAGCCTCTTAACCCAACCTTGCCATCCGTGGTCCCCAAAAAGCATCTGCAGGAGCAGGCACAAAGGAAGCAGCCTCTCCCGCCACACGCAAGCAGGTTCACCAGGGCAGGGCCCTGCATGCTTGGAGAGCTCTCCAATGCATTCAGAGCCAAAAAAAAAAAAAAAAAGCCAGGGTAACGGTGGGCCCCATAGGGCCGACCCCTGTGTCTGATTATTCCACCCTGCTGCCACGTTAAGGTTACTCCTCTCCCATCGGTTGAACGTCCCCTCATCAAGGCTCCGGATACCATGACCCTGAGGGCACAGCCTCCCGGCTGACAAGTCCCTTCTGCCCCAGGGAGGGCTTCAGAGTGCTTCCACAGCCTTTCAAGCCTGCAGACAATAGGGAGATCGCTTGGAGTCACGGGGAGAAGGGGAATTGGAGTGCACGGACATCACCTTCTTTCCATCACCTGCCCTGCAGTCAGCAGCCTGCTCAGTAGACACTGCTGTTTCCCACACCAAGGTCGCCTGGGTCTCTGCAATGATGCAGAACAGATTTTTTTTTTTTAACTTGGGGATGCCCTTCTCAGCTTCTGTGCCCCATGACAGTCTGCAGCAGCCGCTAGCTTAATGCTTGCCTTATTCTCCTGCCACTCCATTAAGCTGGAGAAAATAAACTTTTTCTTTTTCTTTTTTTTTTGAGATAGAGTCTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTACAACCTCCGCCTCCAGGATTCAAGCGATTCTCCTGCCTTCGCCTCCCAAGTAGCTGGGGTTACAGGTGCCCACCACAACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCATGATCTGCCTGCCTTGGCCTCCCAAACTGCTGGGATTACAGGCGTGAGCCACTGGGCCTGGCCAGAATAAACTTTCATTTCAGCTTTCCAGAAGCCAAGTGTCTCCTCCCTTAGGGCCCTCCTCAAATCACCTTTCTAAAGGAAGCATCTGATGTTCATCACTTCTACCCTAGTAGGGTTGCCCAATTCTGAACTACCAAAATAAAACAGGGGAACACACAAAACACAAAATCTAGAAATAAATAACATTACGAGGAAACTCACTCCCACTGTTCAGCTTGAATCTGGCTTTGACAAAAGTTATGCCAATCCCAGGCTGGACACAGTGTCGTAGCAACAAACCAGATAAGCTGCCTC | GTGGCGCCTGGCGCCCATGCAGCGGGCCTCCAGGAGACCATGTGAGGCCACCCCTCAAAGCCAAGCCCAGGGAGGAACCCACAAGCCCAGGTCTGCTTCTTTCAGCTGGACTCACAAAGGGACAGACCCGCCCAGCTAATTCCAGATGAGCCACAACAACTGGCAAGGGACATAGCACTGTCTGCCCTGTCGCTCTCCAGCAGCCTGGCAAGGCACACAGCAGGCCAGCTGTCCCCACGGCCCAAGTCAGGGGGCTCCACTGGGGCCCTGGACCCAGCACGGCCCACCCAGCCCCAGCTCGCCTCAAGTCCATGTAGAAACCATCCTTTGCCCAGGCCAAGCGTCCTGGGATCAGGGCAGGTGCTGCCCCCACAGTTCTGTGAGCTGTCACTCTCTCCCTGCCAGCCAGTGGCCCTGCCCCCACCACTGACCTTCTTTCTTGAGGAGCCAGCCTTGGTGAGGCAGGACTTCTGCAGGGCCAGGTAGCCGCCAATCACCTCGATCTCATGCACGGTGGGGTAGCGCTTCTTCAACGTGGGCCCCAGGAGGCAACTAGCCTCCTCCTCCTCGGCCTCCCGTGGCCGAGGCTCCCTGTTGGCCTGACTGAAGTGCTGGTCCTGCAGAGTCCCTGGCTTCCTCTTGGGCACCACTGTGAAGGTGTTGCTGCCCCGGGGCTGAAGCTCTGCCACGCACCCGGGCCTGGCAGGGTGCAGAGGCCTGGCAGGGTGCGGGAGGTAGGGTAGTTTGGCTGCTTGGGGGGCCTCCTCCGAGTCTACCTCATCGATGAAGGTGACAGGCAGCCCCGGCCTCACATATTCCCGGCTATTCTTGGCCAAGCCAGGAACCCTGAGGCCCTCAGCAGGCTCAGCTTCTTCCGAAGCAGCCGGCAGGAAGGGGGGCGGTGAGGACGGCCTCTGCCACCTAATAGCCCGGTCAGCGAGGGCGGTGGCTGTCCTGGGACAGGCCCCCTCCTCGACTGCCCACTGTGCCTCGACCTCCAGGGGGCTCTTCCCGAGGGCAGGCGCACCATCCCCTCCAGGCACCGGCTGGGATCCGAGCTCCTGGCTCGGGGAGGCCGGGCCCAGGTCTCCCTTTGGCAGCTCCACGGACTGCCTCCCCTCAGGAGGAGGAGCCCCGGAGGCCTTGCTCTTGGGGATGACCATGAAAGAATTTCGAGAGTTTGCGCGGAGGCTGGCCAGCGCCCGGGCCTGGAGGTCCCCCAAGGGGATGGTCTCCATAACTGGCTTGGGGGCCGGCCGTATCTCGAAGGAGTCGTTGGTGCTGGTGGCTGCGGAGACGCACTGGCGCTGGCTAGGAGTGGCACTGGCAGGGGGTGAGGCTGGAGTGGCACTCGGGGTCCCGGGGCTGGGGGGCGGGTGGAGGGAGGGATCCCCCGACTCCACCTTTGGCTTCCACTGTCCCGACCCAGGCGGGGAGCCCGCGAGGCGGTTGGCAGGGCCGGCCCGGGGCTCAGGGGCCGAGTGCCCGTTGGAGAGCAGGCGGGCGCCCGCGCCGCGGTGCAGACCCCGGGGGTGGACGGTGAAGGAGTTGCTGCCGGTCTTCTGGAGGAAGTCGCTGCGCCGGGCCCCGGGGCTCGCCCCGCCACCGCGGGGCCCGGGCGCGGCGGGCGGGCTGGGGGCCGCGGGCGGGGGCCGGGGCGGCGCGGGCGGCGGCGGCGGCGGCGGGGGGCGGGCGCGCTCGGGGCTCCCGCGGCGGCGCGGCGCGGCGGGCGGGTCGAACCTCTCCAGTAGGCGGCTGACGCGGCCGGGCGGCGCCCCGTACACCAGCACCTCGGCGGCGCGGATCTGCGCGGCCCCCGGGGCGGGCGGCGCGGGCGGGAAGCCGGGCACCGTCTCGATGATGAGGACGCTGTCGGCGCGGAGGGCGCGCACGCCAGGCACGCGGCGGTACCGCTCCAGCAGCCGCGCCCCCGCCGCGCCCCCGCCGCGCCGCCGCTCGGCCTCCAGCAGCATGAACGGGTTCTCGCGCAGCGGGCCCAGGCTCTCGGCCAGCACCCGCTGCTCGGGCTCCGCCGCCCCGGGCCCCGCGCCCCGCCCAGCGCGGCTAGCTTGGCCCGCTTCCGCTCCAGGATCTCACGCTTCCAAGCGGGCACCGCAGCGCGCGGCCCCGAGCCCGGCCGCCCCAGGGCGGCCATGCTGCGAACGCGGCAGCGGACGGCTGGACTGAGGGCCGGAGTGGCAGCCGCCGCCGCGGCCAGCCTGGGCGCCGCGGCCACGCCCCCTCCCGGGCCACCGACCATTGGGGAAAGCCCGCTCTCCCCGCCCCGTGCGGGAGGCCCACCTATGGCAGGGGAGGAGGGCGGGCCCCTCAAGTGACCCTACCGATTGGACAACACTCGCCTCAACCCCGCCTCCCAAGGGACTTCATTGGACAACGCCTATCACCGGAGCTGGCCTCCATTGGGGACGGCCCCCCGGACACACCCCGGTGCCTCGCGCCGCTCACTGGCAGACCCCACTTCCGCCTCTGCGCTCTCAGCTCCCGGCGTCCCTGGGGGTAGCCGGGTGCGCGGCCCCTGGACCCTGCGCCCCGAGTGACCTTGGCTGAGCTTGGGACTTCCTCATGCTGCCAGCACCGAGGCCGCCTGTTCCGTCCGCTGAGAGCGCGGTGCAGGAAGGGCGCTGCTCCAGGACCGAAGGCACCCGTGTCCGTGGACGGTGCACAGGCCACACTCTGGCCCGGACCCTGCTTTCACCAGGGGTCCTCCGACCTCCGGCAGGTGCCTGCGGGGCTTGGAAATGCCAATTCTGGAGCCCCGAGCAGCCCCAACGAACCAGTTTCTCAGAAATCCCTAGTTTTTATAGGCTGCCCAGGTGGGAGCCTCTTAACCCAACCTTGCCATCCGTGGTCCCCAAAAAGCATCTGCAGGAGCAGGCACAAAGGAAGCAGCCTCTCCCGCCACACGCAAGCAGGTTCACCAGGGCAGGGCCCTGCATGCTTGGAGAGCTCTCCAATGCATTCAGAGCCAAAAAAAAAAAAAAAAAGCCAGGGTAACGGTGGGCCCCATAGGGCCGACCCCTGTGTCTGATTATTCCACCCTGCTGCCACGTTAAGGTTACTCCTCTCCCATCGGTTGAACGTCCCCTCATCAAGGCTCCGGATACCATGACCCTGAGGGCACAGCCTCCCGGCTGACAAGTCCCTTCTGCCCCAGGGAGGGCTTCAGAGTGCTTCCACAGCCTTTCAAGCCTGCAGACAATAGGGAGATCGCTTGGAGTCACGGGGAGAAGGGGAATTGGAGTGCACGGACATCACCTTCTTTCCATCACCTGCCCTGCAGTCAGCAGCCTGCTCAGTAGACACTGCTGTTTCCCACACCAAGGTCGCCTGGGTCTCTGCAATGATGCAGAACAGATTTTTTTTTTTTAACTTGGGGATGCCCTTCTCAGCTTCTGTGCCCCATGACAGTCTGCAGCAGCCGCTAGCTTAATGCTTGCCTTATTCTCCTGCCACTCCATTAAGCTGGAGAAAATAAACTTTTTCTTTTTCTTTTTTTTTTGAGATAGAGTCTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTACAACCTCCGCCTCCAGGATTCAAGCGATTCTCCTGCCTTCGCCTCCCAAGTAGCTGGGGTTACAGGTGCCCACCACAACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCATGATCTGCCTGCCTTGGCCTCCCAAACTGCTGGGATTACAGGCGTGAGCCACTGGGCCTGGCCAGAATAAACTTTCATTTCAGCTTTCCAGAAGCCAAGTGTCTCCTCCCTTAGGGCCCTCCTCAAATCACCTTTCTAAAGGAAGCATCTGATGTTCATCACTTCTACCCTAGTAGGGTTGCCCAATTCTGAACTACCAAAATAAAACAGGGGAACACACAAAACACAAAATCTAGAAATAAATAACATTACGAGGAAACTCACTCCCACTGTTCAGCTTGAATCTGGCTTTGACAAAAGTTATGCCAATCCCAGGCTGGACACAGTGTCGTAGCAACAAACCAGATAAGCTGCCTCN | pathogenic | 156,377 |
Chromosome 9, position 137233318, gene SLC34A3 (solute carrier family 34 member 3): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Autosomal_recessive_hypophosphatemic_bone_disease'] | TCACTGTTTAGTATCAAATGCCAAAGTCTAAGTCGGGACCATCCACAGTGTCCCCGATGACACCAGATAGGGGAGGTCCCCAGGTTCCCCAGCTCATGGCCTGCACCCTCGGCACTAGCCTTCCAGTCAGGACCAGCAAGGGAGCCGGGGAGCTGGAGCCCCTTCGAGTCTACCCCTGAAACTGGACTGGGCTCGCCTGACAACTGCCTGAGGTCATTGTAGCCATCCCCCTGTGGATGGAGAAAGGGGGATGGTCACTGAGGCCTGCAGGGCGTAGAGAGGGAGGGTGGCGGCCAAGGGCTCAATTCAGGGGACCCAGGGGTGTGAATCCAGCTTGTGAGGACAGGGCCGGGGCAGGAGGAAATGTCTCTGACACGCGCGTCCCCCCCAGCAGATCTAGACCTGGGCCTGGGTCTGTCCCTGCCCGAAATCCATGCCGAGTTCCCTTCCCGGCAGCCAGGTCCCCCACCCCACTCTGGACGCGGTTGACCTAGTGGAAAAGACTCTGAGGAATGAAGGTACCAGTGGCCCCTGTGCCCCAGGCCTTCACCAGTCTGACCACCCACCCCCCAGGCACTGGGCAGAGACAGGCCAGGTTTCCTGCGGGCCTCCCGGGGAACCCACAGGGCTCATGACGCCTCCACTCAGGTCCAGCCCAGCTGGAGCCCCATCTTCCCCGTTCCGTTTCTGTCCCTCACTCCAGGCCTCTTACGCCTCAGCCCGTCCTCCGGCCTGTGCCCTTGTGCCCCCAGTTGGAGGGAGGTGGTCCTGGAAACAGCCGTACTCAATTCTACCTCCACAGGGACCTCCAGTTCTGCTCCAGTCTTGGAGGAAGGGGACACAGACCCCTGGACCCTCCCTCAGCTGAAGGACACAAGCCAGCCCTGGAAAGGTGGGTCTGGAGGTTCCGGGGGTGGCAGGCTGGCAGGCCTCTGTCCCCAACGGGACTGGGGAGACAGAGCAGGGTGGGGCCTGCCCAAACAGGCTGTGTGTGGGGAACTCCGCCATGCAGGCCCCCTCTGGGGAGACACGTGTCCCTCAACCGGGTGTCTGTGCTGTCCTGGGGCAGACCGGCCACCTCTGCCCATCCGTCCCTCCCCTCCTGCTCCTGCGAGGGAGGGTCCCAAGGGCTTCTGGCTTGGAAAGGCAGGAACCCGGGCCCTGCCCTGGGGGTTACGGAAGAGGAGGAAATGGGACCCAGCCCTGTTGGAGACAGAGGAGAGAGGGGGCAGAGAATGAGGGGCCTGGGAGGGAGACCTGTCAGGGTGGAGGGCCAGCCAGGGACAGCCTGCCCTGTGTCCTCAGAGCTCCGCGTGGCCGGCAGGCTGCGCCGCGTGGCCGGCAGCGTCCTCAAGGCCTGCGGGCTCCTCGGCAGCCTGTACTTCTTCATCTGCTCTCTGGACGTCCTCAGCTCCGCCTTCCAGCTGCTGGGCAGTGAGTGACGGGACGGGTGCCCAGGGCGGGGCGGGCAACCAGCCCTCCGCAGCTTCAGCGCACCTCTCTTGCCGGTGTAGGCAAAGTGGCCGGAGACATCTTCAAGGACAACGTGGTGCTGTCCAACCCTGTGGCTGGACTGGTCATTGGCGTGCTGGTCACAGCCCTGGTGCAGAGTTCCAGCACGTCCTCCTCCATCGTGGTCAGCATGGTGGCTGCTAAGCGTGGGTGCACACTCCCTCCCCGGGTGGTGGGGGGGGCAGGGTGGGCCGCAGGCTGACTCAGCCCCCCCACCAGCAGTGCTGACTGTCCGGGTGTCTGTGCCCATCATCATGGGTGTCAACGTAGGCACATCCATCACCAGCACCCTGGTCTCAATGGCGCAGTCAGGGGACCGGGATGAATTTCAGAGGTGAGTTGTGGGTGGAAGGGCTGGGCTGGGGCTGCAGTGGCAGCCCCAGCCCGGGCCCCCCCACCTGACCCTGCCCACTCTCTGCGGCCACAGGGCTTTCAGCGGCTCGGCGGTGCACGGGATCTTCAACTGGCTCACAGTGCTGGTCCTGCTGCCACTGGAGAGCGCCACGGCCCTGCTGGAGAGGCTAAGTGAGCTAGCCCTGGGTGCCGCCAGCCTGACACCCAGGGCGCAGGCGCCCGACATCCTCAAGGTGCTGACGAAGCCGCTCACACACCTCATCGTGCAGGTGAGGACGGCCACCGCCCCCGCCCAGAGAGCCTGAGCAGGCCGGATGGGAGGAGGGGAGGCCCGCCCTGCCCTGATGGAGGGTCAGCGGAGGGTCTGGGCCCTGTCCTGGGACAGGGGAGGAGAGGGCAGCAGTGGGCAGGGCTGGGCTGGACCCCGCGGGCGCCAGAGCCCCGGGTGAGTCCTGAGAGAGGGTGCAGCACACCGTCACGACCCCTCTGGCCCCCAGTTGGACTCCGACATGATCATGAGCAGTGCCACAGGCAACGCCACTAACAGCAGTCTCATTAAGCACTGGTGCGGCACCACGGGGCAGCCGGTGAGGCACCCAACCCTAGGCCCTCACTGACCCCCAACCTCCCACCTGCTGAGTCATCCCGCCCCACCCACCCTCACCTCGAGCCCTCTGACCTCTGTCTGCCCACTGAGCCTGTCCTGAGTCCTCCCTGCCCTCCCCAGACCCAGGAGAACAGCAGCTGTGGCGCCTTCGGCCCGTGCACAGAGAAGAACAGCACAGCCCCGGCGGACAGGCTGCCCTGTGAGGCCCGGCCCACCCCAAGCCCCCTACACCCCCCACACTCCCCCTCACCGGCCCCTACATGGAGAGGAACAGCACAGCCCCGGCGGACAGGCTGCCCTGTGAGGCCCGGCCCACCCCGGCCCACCCCCCAGGCTCCCCCTCACCTGCCCCTGCCCTGCCCCCAGGCCGCCACCTGTTTGCGGGCACGGAGCTCACGGACCTGGCCGTGGGCTGCATCCTGCTGGCCGGCTCCCTGCTGGTGCTCTGCGGCTGCCTGGTCCTCATAGTCAAGCTGCTCAACTCTGTGCTGCGCGGCCGCGTGGCCCAGGTCGTGAGGACAGTCATCAATGCGGGTGAGGGCGTGGGAGGAGGTGCGGTGGCCAGGGCTGACCCAGCATCCCCCATAGACTTCCCCTTCCCACCAGGCTGACTCGGGGGCTACCTGGCCCTCCTTGTGGGCGCTGGCCAGGGCTGACCCGGCATCCCCCACAGACTTCCCCTTCCCGCTGGGCTGGCTCGGCGGCTACCTGGCCGTCCTCGCGGGCGCCGGCCTGACCTTCGCACTGCAGAGCAGCAGCGTCTTCACGGCGGCCGTCGTGCCCCTCATGGGTGAGCAGGCAGGACAGAGGCCTCGGGAACGGGGGCTCGGGCTGGGGTCCTGTGGTGACTCCCAGTTCCCCCAGGGGTCGGGGTGATCAGTCTGGACCGGGCGTACCCCCTCTTACTGGGCTCCAACATCGGCACCACTACCACAGCCCTGCTGGCTGCCCTGGCCAGCCCCGCAGACAGGATGCTCAGCGCCCTGCAGGTACTGTCCACCCTGCCCCGCTGCCAGAACTGGCCAGCTTCCTCTCAGCCCCACAGACAGGAGTGTGTCACCAGCCCCGGGGCCCTAGGCTGGCTGTGCCCCCGCCTTCCTGGACCCCTTCCCTGGCCGCCAGCCTCAGCCCTGCTGCTCTGCCTCCTTGGACCCCACAGGTCCTGCACACATTTCACACCCTCCCTGCGTCTCCTCCCTTGAGACCTCCTCACTTCCACATTTTCTCAGCTCTTTGCTGTGTCCCTGGGGGCCTGCCCCCAGCATCTCAGGGGGCTCTAAGCCCCTCTATTCCAGCACCCTCAGATGCTTTCCCCCAACCCCTGCTCCCTCAAGGAGCAGCCACTCACCTCCAGCAGGTCCCCATCTGGACGACCCTCCCAGCCCCCATTCCACATCTGCAAAGGCCGAGTCCCACCGATGCTGGGCCCTGCCCTGCCGCTGCCAGGGCTGTGATTCTGCCTCCAGGACACTTCCCCCAGTCTGAGCCCCCAGCTCTGTGCCCCAACCCCAGTCTCATTTAGTCCAGCTGGTTCTCCCTCTAAAACAGCCCGTCTGCGGCCTGCTGCCCGGAGGCCCAACAGGTTCAGCTCCCGAAACTCCGGGTCATGCTGCACCGCCGCTG | TCACTGTTTAGTATCAAATGCCAAAGTCTAAGTCGGGACCATCCACAGTGTCCCCGATGACACCAGATAGGGGAGGTCCCCAGGTTCCCCAGCTCATGGCCTGCACCCTCGGCACTAGCCTTCCAGTCAGGACCAGCAAGGGAGCCGGGGAGCTGGAGCCCCTTCGAGTCTACCCCTGAAACTGGACTGGGCTCGCCTGACAACTGCCTGAGGTCATTGTAGCCATCCCCCTGTGGATGGAGAAAGGGGGATGGTCACTGAGGCCTGCAGGGCGTAGAGAGGGAGGGTGGCGGCCAAGGGCTCAATTCAGGGGACCCAGGGGTGTGAATCCAGCTTGTGAGGACAGGGCCGGGGCAGGAGGAAATGTCTCTGACACGCGCGTCCCCCCCAGCAGATCTAGACCTGGGCCTGGGTCTGTCCCTGCCCGAAATCCATGCCGAGTTCCCTTCCCGGCAGCCAGGTCCCCCACCCCACTCTGGACGCGGTTGACCTAGTGGAAAAGACTCTGAGGAATGAAGGTACCAGTGGCCCCTGTGCCCCAGGCCTTCACCAGTCTGACCACCCACCCCCCAGGCACTGGGCAGAGACAGGCCAGGTTTCCTGCGGGCCTCCCGGGGAACCCACAGGGCTCATGACGCCTCCACTCAGGTCCAGCCCAGCTGGAGCCCCATCTTCCCCGTTCCGTTTCTGTCCCTCACTCCAGGCCTCTTACGCCTCAGCCCGTCCTCCGGCCTGTGCCCTTGTGCCCCCAGTTGGAGGGAGGTGGTCCTGGAAACAGCCGTACTCAATTCTACCTCCACAGGGACCTCCAGTTCTGCTCCAGTCTTGGAGGAAGGGGACACAGACCCCTGGACCCTCCCTCAGCTGAAGGACACAAGCCAGCCCTGGAAAGGTGGGTCTGGAGGTTCCGGGGGTGGCAGGCTGGCAGGCCTCTGTCCCCAACGGGACTGGGGAGACAGAGCAGGGTGGGGCCTGCCCAAACAGGCTGTGTGTGGGGAACTCCGCCATGCAGGCCCCCTCTGGGGAGACACGTGTCCCTCAACCGGGTGTCTGTGCTGTCCTGGGGCAGACCGGCCACCTCTGCCCATCCGTCCCTCCCCTCCTGCTCCTGCGAGGGAGGGTCCCAAGGGCTTCTGGCTTGGAAAGGCAGGAACCCGGGCCCTGCCCTGGGGGTTACGGAAGAGGAGGAAATGGGACCCAGCCCTGTTGGAGACAGAGGAGAGAGGGGGCAGAGAATGAGGGGCCTGGGAGGGAGACCTGTCAGGGTGGAGGGCCAGCCAGGGACAGCCTGCCCTGTGTCCTCAGAGCTCCGCGTGGCCGGCAGGCTGCGCCGCGTGGCCGGCAGCGTCCTCAAGGCCTGCGGGCTCCTCGGCAGCCTGTACTTCTTCATCTGCTCTCTGGACGTCCTCAGCTCCGCCTTCCAGCTGCTGGGCAGTGAGTGACGGGACGGGTGCCCAGGGCGGGGCGGGCAACCAGCCCTCCGCAGCTTCAGCGCACCTCTCTTGCCGGTGTAGGCAAAGTGGCCGGAGACATCTTCAAGGACAACGTGGTGCTGTCCAACCCTGTGGCTGGACTGGTCATTGGCGTGCTGGTCACAGCCCTGGTGCAGAGTTCCAGCACGTCCTCCTCCATCGTGGTCAGCATGGTGGCTGCTAAGCGTGGGTGCACACTCCCTCCCCGGGTGGTGGGGGGGGCAGGGTGGGCCGCAGGCTGACTCAGCCCCCCCACCAGCAGTGCTGACTGTCCGGGTGTCTGTGCCCATCATCATGGGTGTCAACGTAGGCACATCCATCACCAGCACCCTGGTCTCAATGGCGCAGTCAGGGGACCGGGATGAATTTCAGAGGTGAGTTGTGGGTGGAAGGGCTGGGCTGGGGCTGCAGTGGCAGCCCCAGCCCGGGCCCCCCCACCTGACCCTGCCCACTCTCTGCGGCCACAGGGCTTTCAGCGGCTCGGCGGTGCACGGGATCTTCAACTGGCTCACAGTGCTGGTCCTGCTGCCACTGGAGAGCGCCACGGCCCTGCTGGAGAGGCTAAGTGAGCTAGCCCGGGTGCCGCCAGCCTGACACCCAGGGCGCAGGCGCCCGACATCCTCAAGGTGCTGACGAAGCCGCTCACACACCTCATCGTGCAGGTGAGGACGGCCACCGCCCCCGCCCAGAGAGCCTGAGCAGGCCGGATGGGAGGAGGGGAGGCCCGCCCTGCCCTGATGGAGGGTCAGCGGAGGGTCTGGGCCCTGTCCTGGGACAGGGGAGGAGAGGGCAGCAGTGGGCAGGGCTGGGCTGGACCCCGCGGGCGCCAGAGCCCCGGGTGAGTCCTGAGAGAGGGTGCAGCACACCGTCACGACCCCTCTGGCCCCCAGTTGGACTCCGACATGATCATGAGCAGTGCCACAGGCAACGCCACTAACAGCAGTCTCATTAAGCACTGGTGCGGCACCACGGGGCAGCCGGTGAGGCACCCAACCCTAGGCCCTCACTGACCCCCAACCTCCCACCTGCTGAGTCATCCCGCCCCACCCACCCTCACCTCGAGCCCTCTGACCTCTGTCTGCCCACTGAGCCTGTCCTGAGTCCTCCCTGCCCTCCCCAGACCCAGGAGAACAGCAGCTGTGGCGCCTTCGGCCCGTGCACAGAGAAGAACAGCACAGCCCCGGCGGACAGGCTGCCCTGTGAGGCCCGGCCCACCCCAAGCCCCCTACACCCCCCACACTCCCCCTCACCGGCCCCTACATGGAGAGGAACAGCACAGCCCCGGCGGACAGGCTGCCCTGTGAGGCCCGGCCCACCCCGGCCCACCCCCCAGGCTCCCCCTCACCTGCCCCTGCCCTGCCCCCAGGCCGCCACCTGTTTGCGGGCACGGAGCTCACGGACCTGGCCGTGGGCTGCATCCTGCTGGCCGGCTCCCTGCTGGTGCTCTGCGGCTGCCTGGTCCTCATAGTCAAGCTGCTCAACTCTGTGCTGCGCGGCCGCGTGGCCCAGGTCGTGAGGACAGTCATCAATGCGGGTGAGGGCGTGGGAGGAGGTGCGGTGGCCAGGGCTGACCCAGCATCCCCCATAGACTTCCCCTTCCCACCAGGCTGACTCGGGGGCTACCTGGCCCTCCTTGTGGGCGCTGGCCAGGGCTGACCCGGCATCCCCCACAGACTTCCCCTTCCCGCTGGGCTGGCTCGGCGGCTACCTGGCCGTCCTCGCGGGCGCCGGCCTGACCTTCGCACTGCAGAGCAGCAGCGTCTTCACGGCGGCCGTCGTGCCCCTCATGGGTGAGCAGGCAGGACAGAGGCCTCGGGAACGGGGGCTCGGGCTGGGGTCCTGTGGTGACTCCCAGTTCCCCCAGGGGTCGGGGTGATCAGTCTGGACCGGGCGTACCCCCTCTTACTGGGCTCCAACATCGGCACCACTACCACAGCCCTGCTGGCTGCCCTGGCCAGCCCCGCAGACAGGATGCTCAGCGCCCTGCAGGTACTGTCCACCCTGCCCCGCTGCCAGAACTGGCCAGCTTCCTCTCAGCCCCACAGACAGGAGTGTGTCACCAGCCCCGGGGCCCTAGGCTGGCTGTGCCCCCGCCTTCCTGGACCCCTTCCCTGGCCGCCAGCCTCAGCCCTGCTGCTCTGCCTCCTTGGACCCCACAGGTCCTGCACACATTTCACACCCTCCCTGCGTCTCCTCCCTTGAGACCTCCTCACTTCCACATTTTCTCAGCTCTTTGCTGTGTCCCTGGGGGCCTGCCCCCAGCATCTCAGGGGGCTCTAAGCCCCTCTATTCCAGCACCCTCAGATGCTTTCCCCCAACCCCTGCTCCCTCAAGGAGCAGCCACTCACCTCCAGCAGGTCCCCATCTGGACGACCCTCCCAGCCCCCATTCCACATCTGCAAAGGCCGAGTCCCACCGATGCTGGGCCCTGCCCTGCCGCTGCCAGGGCTGTGATTCTGCCTCCAGGACACTTCCCCCAGTCTGAGCCCCCAGCTCTGTGCCCCAACCCCAGTCTCATTTAGTCCAGCTGGTTCTCCCTCTAAAACAGCCCGTCTGCGGCCTGCTGCCCGGAGGCCCAACAGGTTCAGCTCCCGAAACTCCGGGTCATGCTGCACCGCCGCTGN | pathogenic | 156,406 |
Subsets and Splits
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