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 |
|---|---|---|---|---|---|
Determine whether the variant at chromosome 19, position 11105570, in gene LDLR (low density lipoprotein receptor) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | AGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGT | AGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTC | pathogenic | 297,853 |
Variant on chromosome 19, at position 11105571, affecting LDLR (low density lipoprotein receptor): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTG | GGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGNNNNNNNNNNNNNNNNNNNNNN | pathogenic | 297,856 |
Is the variant located on chromosome 19 at position 11105573, gene LDLR (low density lipoprotein receptor), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1', 'LDLR-related_disorder'] | CGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCA | CGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGC | pathogenic | 297,859 |
A mutation at chromosome position 11105573 on chromosome 19 in gene LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | CGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCA | CGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCT | pathogenic | 297,860 |
Evaluate the clinical significance of the mutation at chromosome 19, position 11105573 in gene LDLR (low density lipoprotein receptor): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | CGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCA | CGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCANNNNNNNNNNNNNNN | pathogenic | 297,861 |
Determine if the mutation at chromosome 19, position 11105575 in gene LDLR (low density lipoprotein receptor) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | GGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAA | GGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACC | pathogenic | 297,863 |
For chromosome 19, position 11105575, gene LDLR (low density lipoprotein receptor): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAA | GGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCC | pathogenic | 297,864 |
Mutation at chromosome 19, position 11105578, within LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGG | GGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGN | pathogenic | 297,868 |
For chromosome 19, position 11105579, gene LDLR (low density lipoprotein receptor): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Familial_hypercholesterolemia'] | GATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGC | GATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACTGCAAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCNNNNNN | pathogenic | 297,869 |
Does the genetic variant at chromosome 19, position 11105580, impacting gene LDLR (low density lipoprotein receptor), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | ATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCT | ATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCA | pathogenic | 297,870 |
The genetic variant at chromosome 19, position 11105582, affecting gene LDLR (low density lipoprotein receptor): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia'] | CACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCC | CACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGG | pathogenic | 297,872 |
The mutation impacting LDLR (low density lipoprotein receptor) on chromosome 19 at position 11105582: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hypercholesterolemia,_familial,_1'] | CACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCC | CACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCNNNNNNNNNNNNN | pathogenic | 297,873 |
The mutation impacting LDLR (low density lipoprotein receptor) on chromosome 19 at position 11105585: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Homozygous_familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | TTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTT | TTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTNN | pathogenic | 297,876 |
Gene LDLR (low density lipoprotein receptor) variant at chromosome 19, position 11105586—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | TGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTT | TGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGAGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTN | pathogenic | 297,878 |
Determine if the mutation at chromosome 19, position 11105586 in gene LDLR (low density lipoprotein receptor) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | TGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTT | TGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGCAAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTN | pathogenic | 297,879 |
The chromosome 19, position 11105586 genetic variant in gene LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | TGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTT | TGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGCGGTATGGACTGCAAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAA | pathogenic | 297,880 |
Classify the chromosome 19 variant at position 11105586 affecting gene LDLR (low density lipoprotein receptor) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | TGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTT | TGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTNNNNNNNNNNNN | pathogenic | 297,881 |
Clinical significance of chromosome 19, position 11105587, gene LDLR (low density lipoprotein receptor): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTT | GAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACTGAGGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCT | pathogenic | 297,883 |
Evaluate this variant at chromosome 19, position 11105587, gene LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | GAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTT | GAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTN | pathogenic | 297,886 |
A genetic variant at chromosome 19, position 11105596, affecting gene LDLR (low density lipoprotein receptor)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | AGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGA | AGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGANNNNNNNNNNNNNNNNNNNNNN | pathogenic | 297,894 |
Variant at chromosome 19, position 11105604, gene LDLR (low density lipoprotein receptor): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | AGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCT | AGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTNNNNNNNNNNN | benign | 297,904 |
Gene LDLR (low density lipoprotein receptor) variant at chromosome position 11106573 on chromosome 19: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Cardiovascular_phenotype', 'Hypercholesterolemia,_familial,_1'] | AGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTCGCACGGTCGCCCAGGCTGGAGCGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAAGCCCGGGTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCCACCCCATGAAAAAAAATTAAAAAATGAAGCGATGCTGGGCGCGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACGAGGGCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGGGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGAATTCTGAAATACATGAATTCTTTTCCTTAGATGCCTGCTTCTGTCTTGAGGTTTGTTGTTGTTATTTCGAAACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCACAACCTCCGGCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGAATGCCACCTTGCTGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCGAGTGATCTGCCCGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCTCGTCCTGGTGAGGGTTTTTTTTTTTCCCCAACCCTCTGT | AGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTCGCACGGTCGCCCAGGCTGGAGCGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAAGCCCGGGTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCCACCCCATGAAAAAAAATTAAAAAATGAAGCGATGCTGGGCGCGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACGAGGGCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGGGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGAATTCTGAAATACATGAATTCTTTTCCTTAGATGCCTGCTTCTGTCTTGAGGTTTGTTGTTGTTATTTCGAAACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCACAACCTCCGGCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGAATGCCACCTTGCTGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCGAGTGATCTGCCCGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCTCGTCCTGGTGAGGGTTTTTTTTTTTCCCCAACCCTCTG | pathogenic | 297,914 |
Mutation found at chromosome 19 position 11106620, gene LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | GCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTCGCACGGTCGCCCAGGCTGGAGCGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAAGCCCGGGTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCCACCCCATGAAAAAAAATTAAAAAATGAAGCGATGCTGGGCGCGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACGAGGGCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGGGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGAATTCTGAAATACATGAATTCTTTTCCTTAGATGCCTGCTTCTGTCTTGAGGTTTGTTGTTGTTATTTCGAAACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCACAACCTCCGGCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGAATGCCACCTTGCTGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCGAGTGATCTGCCCGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCTCGTCCTGGTGAGGGTTTTTTTTTTTCCCCAACCCTCTGTGGTGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAA | GCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTCGCACGGTCGCCCAGGCTGGAGCGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAAGCCCGGGTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCCACCCCATGAAAAAAAATTAAAAAATGAAGCGATGCTGGGCGCGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACGAGGGCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGGGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGAATTCTGAAATACATGAATTCTTTTCCTTAGATGCCTGCTTCTGTCTTGAGGTTTGTTGTTGTTATTTCGAAACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCACAACCTCCGGCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGAATGCCACCTTGCTGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCGAGTGATCTGCCCGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCTCGTCCTGGTGAGGGTTTTTTTTTTTCCCCAACCCTCTGTGGTGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGA | pathogenic | 297,924 |
Considering the variant on chromosome 19, location 11106646, involving gene LDLR (low density lipoprotein receptor), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Cardiovascular_phenotype'] | ATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTCGCACGGTCGCCCAGGCTGGAGCGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAAGCCCGGGTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCCACCCCATGAAAAAAAATTAAAAAATGAAGCGATGCTGGGCGCGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACGAGGGCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGGGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGAATTCTGAAATACATGAATTCTTTTCCTTAGATGCCTGCTTCTGTCTTGAGGTTTGTTGTTGTTATTTCGAAACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCACAACCTCCGGCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGAATGCCACCTTGCTGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCGAGTGATCTGCCCGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCTCGTCCTGGTGAGGGTTTTTTTTTTTCCCCAACCCTCTGTGGTGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATA | ATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTCGCACGGTCGCCCAGGCTGGAGCGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAAGCCCGGGTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCCACCCCATGAAAAAAAATTAAAAAATGAAGCGATGCTGGGCGCGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACGAGGGCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGGGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGAATTCTGAAATACATGAATTCTTTTCCTTAGATGCCTGCTTCTGTCTTGAGGTTTGTTGTTGTTATTTCGAAACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCACAACCTCCGGCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGAATGCCACCTTGCTGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCGAGTGATCTGCCCGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCTCGTCCTGGTGAGGGTTTTTTTTTTTCCCCAACCCTCTGTGGTGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATANNNN | pathogenic | 297,934 |
Does the variant on chromosome 19 at location 11106650 affecting gene LDLR (low density lipoprotein receptor) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | TTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTCGCACGGTCGCCCAGGCTGGAGCGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAAGCCCGGGTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCCACCCCATGAAAAAAAATTAAAAAATGAAGCGATGCTGGGCGCGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACGAGGGCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGGGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGAATTCTGAAATACATGAATTCTTTTCCTTAGATGCCTGCTTCTGTCTTGAGGTTTGTTGTTGTTATTTCGAAACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCACAACCTCCGGCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGAATGCCACCTTGCTGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCGAGTGATCTGCCCGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCTCGTCCTGGTGAGGGTTTTTTTTTTTCCCCAACCCTCTGTGGTGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACC | TTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTCGCACGGTCGCCCAGGCTGGAGCGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAAGCCCGGGTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCCACCCCATGAAAAAAAATTAAAAAATGAAGCGATGCTGGGCGCGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACGAGGGCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGGGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGAATTCTGAAATACATGAATTCTTTTCCTTAGATGCCTGCTTCTGTCTTGAGGTTTGTTGTTGTTATTTCGAAACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCACAACCTCCGGCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGAATGCCACCTTGCTGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCGAGTGATCTGCCCGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCTCGTCCTGGTGAGGGTTTTTTTTTTTCCCCAACCCTCTGTGGTGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCN | pathogenic | 297,936 |
Evaluate the clinical significance of the mutation at chromosome 19, position 11107393 in gene LDLR (low density lipoprotein receptor): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | ACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTCGCACGGTCGCCCAGGCTGGAGCGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAAGCCCGGGTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCCACCCCATGAAAAAAAATTAAAAAATGAAGCGATGCTGGGCGCGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACGAGGGCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGGGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGAATTCTGAAATACATGAATTCTTTTCCTTAGATGCCTGCTTCTGTCTTGAGGTTTGTTGTTGTTATTTCGAAACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCACAACCTCCGGCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGAATGCCACCTTGCTGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCGAGTGATCTGCCCGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCTCGTCCTGGTGAGGGTTTTTTTTTTTCCCCAACCCTCTGTGGTGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTG | ACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGCACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTCGCACGGTCGCCCAGGCTGGAGCGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAAGCCCGGGTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCCACCCCATGAAAAAAAATTAAAAAATGAAGCGATGCTGGGCGCGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACGAGGGCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGGGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGAATTCTGAAATACATGAATTCTTTTCCTTAGATGCCTGCTTCTGTCTTGAGGTTTGTTGTTGTTATTTCGAAACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCACAACCTCCGGCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGAATGCCACCTTGCTGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCGAGTGATCTGCCCGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCTCGTCCTGGTGAGGGTTTTTTTTTTTCCCCAACCCTCTGTGGTGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGN | pathogenic | 297,959 |
Is the variant located on chromosome 19 at position 11107396, gene LDLR (low density lipoprotein receptor), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | TGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTCGCACGGTCGCCCAGGCTGGAGCGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAAGCCCGGGTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCCACCCCATGAAAAAAAATTAAAAAATGAAGCGATGCTGGGCGCGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACGAGGGCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGGGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGAATTCTGAAATACATGAATTCTTTTCCTTAGATGCCTGCTTCTGTCTTGAGGTTTGTTGTTGTTATTTCGAAACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCACAACCTCCGGCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGAATGCCACCTTGCTGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCGAGTGATCTGCCCGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCTCGTCCTGGTGAGGGTTTTTTTTTTTCCCCAACCCTCTGTGGTGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCT | TGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTCGCACGGTCGCCCAGGCTGGAGCGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAAGCCCGGGTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCCACCCCATGAAAAAAAATTAAAAAATGAAGCGATGCTGGGCGCGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACGAGGGCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGGGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGAATTCTGAAATACATGAATTCTTTTCCTTAGATGCCTGCTTCTGTCTTGAGGTTTGTTGTTGTTATTTCGAAACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCACAACCTCCGGCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGAATGCCACCTTGCTGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCGAGTGATCTGCCCGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCTCGTCCTGGTGAGGGTTTTTTTTTTTCCCCAACCCTCTGTGGTGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTNN | pathogenic | 297,960 |
Is the genetic variant on chromosome 19, position 11107438, gene LDLR (low density lipoprotein receptor), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | CCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTCGCACGGTCGCCCAGGCTGGAGCGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAAGCCCGGGTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCCACCCCATGAAAAAAAATTAAAAAATGAAGCGATGCTGGGCGCGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACGAGGGCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGGGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGAATTCTGAAATACATGAATTCTTTTCCTTAGATGCCTGCTTCTGTCTTGAGGTTTGTTGTTGTTATTTCGAAACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCACAACCTCCGGCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGAATGCCACCTTGCTGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCGAGTGATCTGCCCGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCTCGTCCTGGTGAGGGTTTTTTTTTTTCCCCAACCCTCTGTGGTGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCG | CCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAAGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTCGCACGGTCGCCCAGGCTGGAGCGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAAGCCCGGGTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCCACCCCATGAAAAAAAATTAAAAAATGAAGCGATGCTGGGCGCGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACGAGGGCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGGGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGAATTCTGAAATACATGAATTCTTTTCCTTAGATGCCTGCTTCTGTCTTGAGGTTTGTTGTTGTTATTTCGAAACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCACAACCTCCGGCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGAATGCCACCTTGCTGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCGAGTGATCTGCCCGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCTCGTCCTGGTGAGGGTTTTTTTTTTTCCCCAACCCTCTGTGGTGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGN | pathogenic | 297,976 |
A genetic variant on chromosome 19, position 11107445, affects the gene LDLR (low density lipoprotein receptor). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | TGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTCGCACGGTCGCCCAGGCTGGAGCGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAAGCCCGGGTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCCACCCCATGAAAAAAAATTAAAAAATGAAGCGATGCTGGGCGCGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACGAGGGCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGGGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGAATTCTGAAATACATGAATTCTTTTCCTTAGATGCCTGCTTCTGTCTTGAGGTTTGTTGTTGTTATTTCGAAACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCACAACCTCCGGCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGAATGCCACCTTGCTGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCGAGTGATCTGCCCGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCTCGTCCTGGTGAGGGTTTTTTTTTTTCCCCAACCCTCTGTGGTGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGAC | TGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTCGCACGGTCGCCCAGGCTGGAGCGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAAGCCCGGGTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCCACCCCATGAAAAAAAATTAAAAAATGAAGCGATGCTGGGCGCGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACGAGGGCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGGGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGAATTCTGAAATACATGAATTCTTTTCCTTAGATGCCTGCTTCTGTCTTGAGGTTTGTTGTTGTTATTTCGAAACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCACAACCTCCGGCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGAATGCCACCTTGCTGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCGAGTGATCTGCCCGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCTCGTCCTGGTGAGGGTTTTTTTTTTTCCCCAACCCTCTGTGGTGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACN | pathogenic | 297,978 |
Evaluate the clinical significance of the mutation at chromosome 19, position 11107448 in gene LDLR (low density lipoprotein receptor): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTCGCACGGTCGCCCAGGCTGGAGCGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAAGCCCGGGTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCCACCCCATGAAAAAAAATTAAAAAATGAAGCGATGCTGGGCGCGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACGAGGGCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGGGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGAATTCTGAAATACATGAATTCTTTTCCTTAGATGCCTGCTTCTGTCTTGAGGTTTGTTGTTGTTATTTCGAAACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCACAACCTCCGGCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGAATGCCACCTTGCTGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCGAGTGATCTGCCCGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCTCGTCCTGGTGAGGGTTTTTTTTTTTCCCCAACCCTCTGTGGTGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTT 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GGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTCGCACGGTCGCCCAGGCTGGAGCGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAAGCCCGGGTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCCACCCCATGAAAAAAAATTAAAAAATGAAGCGATGCTGGGCGCGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACGAGGGCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGGGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGAATTCTGAAATACATGAATTCTTTTCCTTAGATGCCTGCTTCTGTCTTGAGGTTTGTTGTTGTTATTTCGAAACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCACAACCTCCGGCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGAATGCCACCTTGCTGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCGAGTGATCTGCCCGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCTCGTCCTGGTGAGGGTTTTTTTTTTTCCCCAACCCTCTGTGGTGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTT | pathogenic | 297,979 |
Considering the variant on chromosome 19, location 11107453, involving gene LDLR (low density lipoprotein receptor), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Homozygous_familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | TGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTCGCACGGTCGCCCAGGCTGGAGCGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAAGCCCGGGTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCCACCCCATGAAAAAAAATTAAAAAATGAAGCGATGCTGGGCGCGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACGAGGGCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGGGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGAATTCTGAAATACATGAATTCTTTTCCTTAGATGCCTGCTTCTGTCTTGAGGTTTGTTGTTGTTATTTCGAAACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCACAACCTCCGGCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGAATGCCACCTTGCTGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCGAGTGATCTGCCCGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCTCGTCCTGGTGAGGGTTTTTTTTTTTCCCCAACCCTCTGTGGTGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTG | TGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTCGCACGGTCGCCCAGGCTGGAGCGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAAGCCCGGGTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCCACCCCATGAAAAAAAATTAAAAAATGAAGCGATGCTGGGCGCGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACGAGGGCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGGGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGAATTCTGAAATACATGAATTCTTTTCCTTAGATGCCTGCTTCTGTCTTGAGGTTTGTTGTTGTTATTTCGAAACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCACAACCTCCGGCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGAATGCCACCTTGCTGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCGAGTGATCTGCCCGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCTCGTCCTGGTGAGGGTTTTTTTTTTTCCCCAACCCTCTGTGGTGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGNN | pathogenic | 297,981 |
Assess the variant on chromosome 19, position 11107457, impacting LDLR (low density lipoprotein receptor): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | ACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTCGCACGGTCGCCCAGGCTGGAGCGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAAGCCCGGGTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCCACCCCATGAAAAAAAATTAAAAAATGAAGCGATGCTGGGCGCGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACGAGGGCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGGGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGAATTCTGAAATACATGAATTCTTTTCCTTAGATGCCTGCTTCTGTCTTGAGGTTTGTTGTTGTTATTTCGAAACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCACAACCTCCGGCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGAATGCCACCTTGCTGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCGAGTGATCTGCCCGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCTCGTCCTGGTGAGGGTTTTTTTTTTTCCCCAACCCTCTGTGGTGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTT | ACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTCGCACGGTCGCCCAGGCTGGAGCGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAAGCCCGGGTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCCACCCCATGAAAAAAAATTAAAAAATGAAGCGATGCTGGGCGCGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACGAGGGCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGGGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGAATTCTGAAATACATGAATTCTTTTCCTTAGATGCCTGCTTCTGTCTTGAGGTTTGTTGTTGTTATTTCGAAACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCACAACCTCCGGCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGAATGCCACCTTGCTGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCGAGTGATCTGCCCGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCTCGTCCTGGTGAGGGTTTTTTTTTTTCCCCAACCCTCTGTGGTGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTN | pathogenic | 297,983 |
Variant at chromosome 19, position 11107469, gene LDLR (low density lipoprotein receptor): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Hypercholesterolemia,_familial,_1'] | ACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTCGCACGGTCGCCCAGGCTGGAGCGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAAGCCCGGGTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCCACCCCATGAAAAAAAATTAAAAAATGAAGCGATGCTGGGCGCGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACGAGGGCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGGGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGAATTCTGAAATACATGAATTCTTTTCCTTAGATGCCTGCTTCTGTCTTGAGGTTTGTTGTTGTTATTTCGAAACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCACAACCTCCGGCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGAATGCCACCTTGCTGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCGAGTGATCTGCCCGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCTCGTCCTGGTGAGGGTTTTTTTTTTTCCCCAACCCTCTGTGGTGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATAT | ACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTCGCACGGTCGCCCAGGCTGGAGCGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAAGCCCGGGTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCCACCCCATGAAAAAAAATTAAAAAATGAAGCGATGCTGGGCGCGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACGAGGGCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGGGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGAATTCTGAAATACATGAATTCTTTTCCTTAGATGCCTGCTTCTGTCTTGAGGTTTGTTGTTGTTATTTCGAAACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCACAACCTCCGGCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGAATGCCACCTTGCTGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCGAGTGATCTGCCCGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCTCGTCCTGGTGAGGGTTTTTTTTTTTCCCCAACCCTCTGTGGTGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATN | pathogenic | 297,986 |
Mutation at chromosome 19, position 11107478, within LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | ATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTCGCACGGTCGCCCAGGCTGGAGCGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAAGCCCGGGTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCCACCCCATGAAAAAAAATTAAAAAATGAAGCGATGCTGGGCGCGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACGAGGGCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGGGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGAATTCTGAAATACATGAATTCTTTTCCTTAGATGCCTGCTTCTGTCTTGAGGTTTGTTGTTGTTATTTCGAAACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCACAACCTCCGGCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGAATGCCACCTTGCTGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCGAGTGATCTGCCCGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCTCGTCCTGGTGAGGGTTTTTTTTTTTCCCCAACCCTCTGTGGTGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATA | ATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTCGCACGGTCGCCCAGGCTGGAGCGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAAGCCCGGGTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCCACCCCATGAAAAAAAATTAAAAAATGAAGCGATGCTGGGCGCGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACGAGGGCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGGGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGAATTCTGAAATACATGAATTCTTTTCCTTAGATGCCTGCTTCTGTCTTGAGGTTTGTTGTTGTTATTTCGAAACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCACAACCTCCGGCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGAATGCCACCTTGCTGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCGAGTGATCTGCCCGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCTCGTCCTGGTGAGGGTTTTTTTTTTTCCCCAACCCTCTGTGGTGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAN | pathogenic | 297,990 |
Is the variant located on chromosome 19 at position 11107488, gene LDLR (low density lipoprotein receptor), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Hypercholesterolemia,_familial,_1'] | TGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTCGCACGGTCGCCCAGGCTGGAGCGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAAGCCCGGGTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCCACCCCATGAAAAAAAATTAAAAAATGAAGCGATGCTGGGCGCGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACGAGGGCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGGGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGAATTCTGAAATACATGAATTCTTTTCCTTAGATGCCTGCTTCTGTCTTGAGGTTTGTTGTTGTTATTTCGAAACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCACAACCTCCGGCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGAATGCCACCTTGCTGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCGAGTGATCTGCCCGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCTCGTCCTGGTGAGGGTTTTTTTTTTTCCCCAACCCTCTGTGGTGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTA | TGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTCGCACGGTCGCCCAGGCTGGAGCGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAAGCCCGGGTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCCACCCCATGAAAAAAAATTAAAAAATGAAGCGATGCTGGGCGCGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACGAGGGCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGGGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGAATTCTGAAATACATGAATTCTTTTCCTTAGATGCCTGCTTCTGTCTTGAGGTTTGTTGTTGTTATTTCGAAACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCACAACCTCCGGCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGAATGCCACCTTGCTGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCGAGTGATCTGCCCGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCTCGTCCTGGTGAGGGTTTTTTTTTTTCCCCAACCCTCTGTGGTGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGT | pathogenic | 297,996 |
Clinically, how would you classify the variant at chromosome 19, position 11107497, gene LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | GCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTCGCACGGTCGCCCAGGCTGGAGCGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAAGCCCGGGTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCCACCCCATGAAAAAAAATTAAAAAATGAAGCGATGCTGGGCGCGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACGAGGGCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGGGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGAATTCTGAAATACATGAATTCTTTTCCTTAGATGCCTGCTTCTGTCTTGAGGTTTGTTGTTGTTATTTCGAAACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCACAACCTCCGGCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGAATGCCACCTTGCTGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCGAGTGATCTGCCCGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCTCGTCCTGGTGAGGGTTTTTTTTTTTCCCCAACCCTCTGTGGTGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATAT | GCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTCGCACGGTCGCCCAGGCTGGAGCGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAAGCCCGGGTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCCACCCCATGAAAAAAAATTAAAAAATGAAGCGATGCTGGGCGCGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACGAGGGCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGGGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGAATTCTGAAATACATGAATTCTTTTCCTTAGATGCCTGCTTCTGTCTTGAGGTTTGTTGTTGTTATTTCGAAACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCACAACCTCCGGCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGAATGCCACCTTGCTGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCGAGTGATCTGCCCGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCTCGTCCTGGTGAGGGTTTTTTTTTTTCCCCAACCCTCTGTGGTGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATNNNNNNN | pathogenic | 298,004 |
Considering the variant on chromosome 19, location 11107504, involving gene LDLR (low density lipoprotein receptor), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | TGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTCGCACGGTCGCCCAGGCTGGAGCGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAAGCCCGGGTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCCACCCCATGAAAAAAAATTAAAAAATGAAGCGATGCTGGGCGCGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACGAGGGCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGGGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGAATTCTGAAATACATGAATTCTTTTCCTTAGATGCCTGCTTCTGTCTTGAGGTTTGTTGTTGTTATTTCGAAACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCACAACCTCCGGCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGAATGCCACCTTGCTGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCGAGTGATCTGCCCGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCTCGTCCTGGTGAGGGTTTTTTTTTTTCCCCAACCCTCTGTGGTGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTT | TGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTCGCACGGTCGCCCAGGCTGGAGCGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAAGCCCGGGTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCCACCCCATGAAAAAAAATTAAAAAATGAAGCGATGCTGGGCGCGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACGAGGGCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGGGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGAATTCTGAAATACATGAATTCTTTTCCTTAGATGCCTGCTTCTGTCTTGAGGTTTGTTGTTGTTATTTCGAAACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCACAACCTCCGGCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGAATGCCACCTTGCTGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCGAGTGATCTGCCCGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCTCGTCCTGGTGAGGGTTTTTTTTTTTCCCCAACCCTCTGTGGTGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTN | pathogenic | 298,006 |
Variant at chromosome 19, position 11107504, gene LDLR (low density lipoprotein receptor): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | TGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTCGCACGGTCGCCCAGGCTGGAGCGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAAGCCCGGGTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCCACCCCATGAAAAAAAATTAAAAAATGAAGCGATGCTGGGCGCGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACGAGGGCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGGGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGAATTCTGAAATACATGAATTCTTTTCCTTAGATGCCTGCTTCTGTCTTGAGGTTTGTTGTTGTTATTTCGAAACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCACAACCTCCGGCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGAATGCCACCTTGCTGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCGAGTGATCTGCCCGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCTCGTCCTGGTGAGGGTTTTTTTTTTTCCCCAACCCTCTGTGGTGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTT | TGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTCGCACGGTCGCCCAGGCTGGAGCGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAAGCCCGGGTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCCACCCCATGAAAAAAAATTAAAAAATGAAGCGATGCTGGGCGCGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACGAGGGCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGGGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGAATTCTGAAATACATGAATTCTTTTCCTTAGATGCCTGCTTCTGTCTTGAGGTTTGTTGTTGTTATTTCGAAACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCACAACCTCCGGCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGAATGCCACCTTGCTGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCGAGTGATCTGCCCGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCTCGTCCTGGTGAGGGTTTTTTTTTTTCCCCAACCCTCTGTGGTGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTNN | pathogenic | 298,007 |
Clinical significance of chromosome 19, position 11107506, gene LDLR (low density lipoprotein receptor): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hypercholesterolemia,_familial,_1'] | TAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTCGCACGGTCGCCCAGGCTGGAGCGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAAGCCCGGGTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCCACCCCATGAAAAAAAATTAAAAAATGAAGCGATGCTGGGCGCGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACGAGGGCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGGGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGAATTCTGAAATACATGAATTCTTTTCCTTAGATGCCTGCTTCTGTCTTGAGGTTTGTTGTTGTTATTTCGAAACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCACAACCTCCGGCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGAATGCCACCTTGCTGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCGAGTGATCTGCCCGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCTCGTCCTGGTGAGGGTTTTTTTTTTTCCCCAACCCTCTGTGGTGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGT | TAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTCGCACGGTCGCCCAGGCTGGAGCGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAAGCCCGGGTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCCACCCCATGAAAAAAAATTAAAAAATGAAGCGATGCTGGGCGCGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACGAGGGCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGGGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGAATTCTGAAATACATGAATTCTTTTCCTTAGATGCCTGCTTCTGTCTTGAGGTTTGTTGTTGTTATTTCGAAACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCACAACCTCCGGCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGAATGCCACCTTGCTGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCGAGTGATCTGCCCGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCTCGTCCTGGTGAGGGTTTTTTTTTTTCCCCAACCCTCTGTGGTGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTNN | pathogenic | 298,008 |
The genetic variant at chromosome 19, position 11107509, affecting gene LDLR (low density lipoprotein receptor): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | GGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTCGCACGGTCGCCCAGGCTGGAGCGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAAGCCCGGGTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCCACCCCATGAAAAAAAATTAAAAAATGAAGCGATGCTGGGCGCGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACGAGGGCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGGGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGAATTCTGAAATACATGAATTCTTTTCCTTAGATGCCTGCTTCTGTCTTGAGGTTTGTTGTTGTTATTTCGAAACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCACAACCTCCGGCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGAATGCCACCTTGCTGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCGAGTGATCTGCCCGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCTCGTCCTGGTGAGGGTTTTTTTTTTTCCCCAACCCTCTGTGGTGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTT | GGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTCGCACGGTCGCCCAGGCTGGAGCGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAAGCCCGGGTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCCACCCCATGAAAAAAAATTAAAAAATGAAGCGATGCTGGGCGCGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACGAGGGCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGGGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGAATTCTGAAATACATGAATTCTTTTCCTTAGATGCCTGCTTCTGTCTTGAGGTTTGTTGTTGTTATTTCGAAACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCACAACCTCCGGCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGAATGCCACCTTGCTGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCGAGTGATCTGCCCGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCTCGTCCTGGTGAGGGTTTTTTTTTTTCCCCAACCCTCTGTGGTGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTNNNNNNNNNNNNNNN | pathogenic | 298,010 |
Determine if the mutation at chromosome 19, position 11107512 in gene LDLR (low density lipoprotein receptor) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Dyslipidemia', 'Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1', 'LDLR-related_disorder'] | TCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTCGCACGGTCGCCCAGGCTGGAGCGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAAGCCCGGGTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCCACCCCATGAAAAAAAATTAAAAAATGAAGCGATGCTGGGCGCGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACGAGGGCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGGGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGAATTCTGAAATACATGAATTCTTTTCCTTAGATGCCTGCTTCTGTCTTGAGGTTTGTTGTTGTTATTTCGAAACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCACAACCTCCGGCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGAATGCCACCTTGCTGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCGAGTGATCTGCCCGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCTCGTCCTGGTGAGGGTTTTTTTTTTTCCCCAACCCTCTGTGGTGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATA | TCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTATGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTCGCACGGTCGCCCAGGCTGGAGCGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAAGCCCGGGTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCCACCCCATGAAAAAAAATTAAAAAATGAAGCGATGCTGGGCGCGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACGAGGGCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGGGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGAATTCTGAAATACATGAATTCTTTTCCTTAGATGCCTGCTTCTGTCTTGAGGTTTGTTGTTGTTATTTCGAAACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCACAACCTCCGGCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGAATGCCACCTTGCTGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCGAGTGATCTGCCCGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCTCGTCCTGGTGAGGGTTTTTTTTTTTCCCCAACCCTCTGTGGTGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATA | pathogenic | 298,015 |
Assess the variant on chromosome 19, position 11107514, impacting LDLR (low density lipoprotein receptor): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | TTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTCGCACGGTCGCCCAGGCTGGAGCGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAAGCCCGGGTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCCACCCCATGAAAAAAAATTAAAAAATGAAGCGATGCTGGGCGCGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACGAGGGCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGGGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGAATTCTGAAATACATGAATTCTTTTCCTTAGATGCCTGCTTCTGTCTTGAGGTTTGTTGTTGTTATTTCGAAACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCACAACCTCCGGCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGAATGCCACCTTGCTGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCGAGTGATCTGCCCGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCTCGTCCTGGTGAGGGTTTTTTTTTTTCCCCAACCCTCTGTGGTGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATA | TTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTCGCACGGTCGCCCAGGCTGGAGCGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAAGCCCGGGTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCCACCCCATGAAAAAAAATTAAAAAATGAAGCGATGCTGGGCGCGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACGAGGGCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGGGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGAATTCTGAAATACATGAATTCTTTTCCTTAGATGCCTGCTTCTGTCTTGAGGTTTGTTGTTGTTATTTCGAAACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCACAACCTCCGGCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGAATGCCACCTTGCTGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCGAGTGATCTGCCCGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCTCGTCCTGGTGAGGGTTTTTTTTTTTCCCCAACCCTCTGTGGTGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATANNNN | pathogenic | 298,018 |
A genetic alteration at chromosome 19, position 11110660, in gene LDLR (low density lipoprotein receptor)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | ACCCTCTGTGGTGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATT | ACCCTCTGTGGTGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTN | pathogenic | 298,040 |
A genetic variant on chromosome 19, position 11110669, affects the gene LDLR (low density lipoprotein receptor). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GGTGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTT | GGTGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTNNN | pathogenic | 298,045 |
Does the genetic variant at chromosome 19, position 11110671, impacting gene LDLR (low density lipoprotein receptor), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | TGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTT | TGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACCAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTNN | pathogenic | 298,046 |
Gene mutation in LDLR (low density lipoprotein receptor) at chromosome 19, position 11110676—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia'] | ACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTT | ACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAAGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTN | pathogenic | 298,047 |
Is the chromosome 19, position 11110679 variant in LDLR (low density lipoprotein receptor) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGA | GAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAN | pathogenic | 298,050 |
A genetic alteration at chromosome 19, position 11110680, in gene LDLR (low density lipoprotein receptor)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | AAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAG | AAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGN | pathogenic | 298,052 |
The mutation in gene LDLR (low density lipoprotein receptor) at chromosome 19, position 11110687—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia'] | ATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGT | ATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTN | pathogenic | 298,058 |
Is the genetic change at chromosome 19, position 11110690, within gene LDLR (low density lipoprotein receptor) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hypercholesterolemia,_familial,_1'] | TTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTC | TTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCAACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCT | pathogenic | 298,062 |
Located at chromosome 19 position 11110718, the variant affecting gene LDLR (low density lipoprotein receptor)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | CAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTG | CAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTAGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGN | pathogenic | 298,071 |
Chromosome 19, position 11110718, gene LDLR (low density lipoprotein receptor): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Familial_hypercholesterolemia'] | CAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTG | CAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGNNNNNNNNNNNNNNN | pathogenic | 298,072 |
Determine whether the variant at chromosome 19, position 11110719, in gene LDLR (low density lipoprotein receptor) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Familial_hypercholesterolemia', 'Familial_type_3_hyperlipoproteinemia', 'Hypercholesterolemia,_familial,_1'] | AGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGG | AGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCG | pathogenic | 298,074 |
Regarding the variant at chromosome 19 and position 11110727, affecting gene LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCT | GTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATC | pathogenic | 298,081 |
Does the variant on chromosome 19 at location 11110730 affecting gene LDLR (low density lipoprotein receptor) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Homozygous_familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | TTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGG | TTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTTGCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGG | pathogenic | 298,084 |
Evaluate if the mutation on chromosome 19 at position 11110740 in LDLR (low density lipoprotein receptor) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | TATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAA | TATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAAN | pathogenic | 298,094 |
Gene mutation in LDLR (low density lipoprotein receptor) at chromosome 19, position 11110744—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | CCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTC | CCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCT | pathogenic | 298,095 |
Clinical classification of chromosome 19, position 11110750, gene LDLR (low density lipoprotein receptor): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Familial_hypercholesterolemia'] | TGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTC | TGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGATGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCT | pathogenic | 298,099 |
The genetic variant at chromosome 19, position 11110751, affecting gene LDLR (low density lipoprotein receptor): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCC | GGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCN | pathogenic | 298,100 |
Is the chromosome 19, position 11110753 variant in LDLR (low density lipoprotein receptor) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | GCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCA | GCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAN | pathogenic | 298,101 |
Chromosome 19, position 11110756, gene LDLR (low density lipoprotein receptor): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Cardiovascular_phenotype', 'Hypercholesterolemia,_familial,_1'] | TGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGT | TGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGG | pathogenic | 298,102 |
Located at chromosome 19 position 11110757, the variant affecting gene LDLR (low density lipoprotein receptor)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTT | GGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCT | pathogenic | 298,104 |
Variant chromosome 19, position 11110764, gene LDLR (low density lipoprotein receptor): benign or pathogenic? Disease(s)? | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Homozygous_familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | GTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAA | GTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAANNNNNNNN | pathogenic | 298,109 |
Assess the variant on chromosome 19, position 11110781, impacting LDLR (low density lipoprotein receptor): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | TCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCT | TCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCCAGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCT | benign | 298,119 |
Gene LDLR (low density lipoprotein receptor) variant at chromosome position 11111519 on chromosome 19: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Cardiovascular_phenotype', 'Hypercholesterolemia,_familial,_1'] | GCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTT | GCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGTGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTN | pathogenic | 298,132 |
Variant on chromosome 19, at position 11111521, affecting LDLR (low density lipoprotein receptor): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | ATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCC | ATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGA | pathogenic | 298,135 |
Variant in gene LDLR (low density lipoprotein receptor), located at chromosome 19 position 11111522: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | TGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCT | TGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTN | pathogenic | 298,137 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 19, position 11111537, gene LDLR (low density lipoprotein receptor). What disease(s) is it linked to if pathogenic? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCA | GGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGCACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAN | pathogenic | 298,142 |
Determine if the mutation at chromosome 19, position 11111552 in gene LDLR (low density lipoprotein receptor) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | TATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGG | TATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGGTGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGNNNN | pathogenic | 298,148 |
Determine whether the variant at chromosome 19, position 11111568, in gene LDLR (low density lipoprotein receptor) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Homozygous_familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | TATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGC | TATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGC | pathogenic | 298,155 |
The mutation impacting LDLR (low density lipoprotein receptor) on chromosome 19 at position 11111571: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | ATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGT | ATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGG | pathogenic | 298,159 |
Determine whether the variant at chromosome 19, position 11111582, in gene LDLR (low density lipoprotein receptor) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | TATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCC | TATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCN | pathogenic | 298,165 |
Does the variant on chromosome 19 at location 11111601 affecting gene LDLR (low density lipoprotein receptor) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | TTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGAC | TTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACNNNNNNNNN | pathogenic | 298,178 |
Clinical classification of chromosome 19, position 11111610, gene LDLR (low density lipoprotein receptor): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | TATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGT | TATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTN | pathogenic | 298,182 |
Assess the variant on chromosome 19, position 11111629, impacting LDLR (low density lipoprotein receptor): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | AAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTT | AAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTN | pathogenic | 298,191 |
The chromosome 19, position 11113276 genetic variant in gene LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | CAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTC | CAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCN | pathogenic | 298,209 |
Variant chromosome 19, position 11113287, gene LDLR (low density lipoprotein receptor): benign or pathogenic? Disease(s)? | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | AAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGT | AAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTNNNNNNNNN | pathogenic | 298,215 |
Gene LDLR (low density lipoprotein receptor) variant at chromosome position 11113292 on chromosome 19: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | CCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGA | CCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGANNN | pathogenic | 298,219 |
Considering the genetic mutation at chromosome 19, position 11113295, impacting LDLR (low density lipoprotein receptor): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hypercholesterolemia,_familial,_1'] | TCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTG | TCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGNN | pathogenic | 298,220 |
Chromosome 19, position 11113296, gene LDLR (low density lipoprotein receptor): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | CCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGC | CCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCN | pathogenic | 298,221 |
Considering the genetic mutation at chromosome 19, position 11113297, impacting LDLR (low density lipoprotein receptor): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hypercholesterolemia,_familial,_1'] | CAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCA | CAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAN | pathogenic | 298,222 |
Considering the variant on chromosome 19, location 11113299, involving gene LDLR (low density lipoprotein receptor), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | AAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGT | AAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTN | pathogenic | 298,223 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 19, position 11113334, gene LDLR (low density lipoprotein receptor). What disease(s) is it linked to if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hypercholesterolemia,_familial,_1'] | AATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTT | AATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTNN | pathogenic | 298,242 |
The mutation in gene LDLR (low density lipoprotein receptor) at chromosome 19, position 11113374—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | CGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCT | CGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAAGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTN | pathogenic | 298,263 |
Is chromosome 19, position 11113394, gene LDLR (low density lipoprotein receptor) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Cardiovascular_phenotype', 'Hypercholesterolemia,_familial,_1'] | GGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCA | GGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGTCGCTCTGGACACGTAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGC | pathogenic | 298,278 |
Chromosome 19, position 11113395, gene LDLR (low density lipoprotein receptor): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | GTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCAC | GTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACN | pathogenic | 298,279 |
Located at chromosome 19 position 11113425, the variant affecting gene LDLR (low density lipoprotein receptor)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | CCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGT | CCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTN | pathogenic | 298,296 |
Variant on chromosome 19, at position 11113433, affecting LDLR (low density lipoprotein receptor): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | ACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGA | ACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAN | pathogenic | 298,300 |
Is the genetic mutation found on chromosome 19 at position 11113534, within the gene LDLR (low density lipoprotein receptor), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia'] | CCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGC | CCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCNNNN | pathogenic | 298,317 |
Benign or pathogenic: chromosome 19, position 11113536, gene LDLR (low density lipoprotein receptor) variant? Disease(s) if pathogenic? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | ACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGC | ACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCN | pathogenic | 298,318 |
Variant on chromosome 19, at position 11113539, affecting LDLR (low density lipoprotein receptor): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | AAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATG | AAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGNNNNNNNNNN | pathogenic | 298,321 |
Is the variant located on chromosome 19 at position 11113544, gene LDLR (low density lipoprotein receptor), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | TCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTG | TCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGG | pathogenic | 298,323 |
Is the variant located on chromosome 19 at position 11113547, gene LDLR (low density lipoprotein receptor), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Hypercholesterolemia,_familial,_1'] | TTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGT | TTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTNN | pathogenic | 298,325 |
A genetic variant on chromosome 19, position 11113551, affects the gene LDLR (low density lipoprotein receptor). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | CTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTT | CTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTNNNN | pathogenic | 298,326 |
Determine whether the variant at chromosome 19, position 11113556, in gene LDLR (low density lipoprotein receptor) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Familial_hypercholesterolemia'] | TTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTT | TTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTN | pathogenic | 298,328 |
For chromosome 19, position 11113566, gene LDLR (low density lipoprotein receptor): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | CGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTT | CGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTN | pathogenic | 298,331 |
Evaluate if the mutation on chromosome 19 at position 11113589 in LDLR (low density lipoprotein receptor) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | CCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTC | CCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGGGACATACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTC | pathogenic | 298,336 |
Variant at chromosome position 11113590, chromosome 19, gene LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | CTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCT | CTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCA | pathogenic | 298,337 |
Benign or pathogenic: chromosome 19, position 11113599, gene LDLR (low density lipoprotein receptor) variant? Disease(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Homozygous_familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | GCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAG | GCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCA | pathogenic | 298,340 |
Regarding the variant found on chromosome 19 at position 11113599 in gene LDLR (low density lipoprotein receptor): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAG | GCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGACCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGN | pathogenic | 298,341 |
Subsets and Splits
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