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 |
|---|---|---|---|---|---|
A genetic alteration at chromosome 19, position 11113607, in gene LDLR (low density lipoprotein receptor)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | TGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGT | TGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTN | pathogenic | 298,344 |
A genetic variant on chromosome 19, position 11113633, affects the gene LDLR (low density lipoprotein receptor). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia'] | CAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGT | CAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGA | pathogenic | 298,357 |
Considering the genetic mutation at chromosome 19, position 11113651, impacting LDLR (low density lipoprotein receptor): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Hypercholesterolemia', 'Hypercholesterolemia,_familial,_1', 'LDLR-related_disorder'] | CAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGC | CAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCNN | pathogenic | 298,369 |
Considering the genetic mutation at chromosome 19, position 11113653, impacting LDLR (low density lipoprotein receptor): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTC | GCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACAGAGACAGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGG | pathogenic | 298,370 |
The chromosome 19, position 11113660 genetic variant in gene LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | CCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAAT | CCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATNN | pathogenic | 298,371 |
Determine if the mutation at chromosome 19, position 11113666 in gene LDLR (low density lipoprotein receptor) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1', 'LDLR-related_disorder'] | ACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTT | ACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTNN | pathogenic | 298,374 |
Evaluate the clinical significance of the mutation at chromosome 19, position 11113668 in gene LDLR (low density lipoprotein receptor): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGA | GAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGANN | pathogenic | 298,376 |
Clinical classification of chromosome 19, position 11113672, gene LDLR (low density lipoprotein receptor): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTC | GCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCNN | pathogenic | 298,378 |
Gene LDLR (low density lipoprotein receptor) variant at chromosome 19, position 11113677—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | CAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCT | CAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCC | pathogenic | 298,379 |
A genetic variant at chromosome 19, position 11113704, affecting gene LDLR (low density lipoprotein receptor)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACC | GGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAAGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCN | pathogenic | 298,385 |
For chromosome 19, position 11113708, gene LDLR (low density lipoprotein receptor): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGT | GGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTAATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCG | pathogenic | 298,387 |
For chromosome 19, position 11113722, gene LDLR (low density lipoprotein receptor): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | CACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATA | CACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATANNNNNNN | pathogenic | 298,390 |
The mutation impacting LDLR (low density lipoprotein receptor) on chromosome 19 at position 11116113: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | CACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTG | CACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGN | pathogenic | 298,413 |
A genetic variant at chromosome 19, position 11116134, affecting gene LDLR (low density lipoprotein receptor)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | ACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAG | ACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGNNNNNNNNNNNNNNNNNNNNNNNN | pathogenic | 298,420 |
Chromosome 19, position 11116136, gene LDLR (low density lipoprotein receptor): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | AGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGT | AGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTN | pathogenic | 298,421 |
Is the chromosome 19, position 11116139 variant in LDLR (low density lipoprotein receptor) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Familial_hypercholesterolemia', 'Homozygous_familial_hypercholesterolemia'] | GTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCAT | GTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATN | pathogenic | 298,423 |
Clinical significance of chromosome 19, position 11116147, gene LDLR (low density lipoprotein receptor): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hypercholesterolemia,_familial,_1'] | CCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCAC | CCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCAGCGTCATCTTCCTGACCATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGC | pathogenic | 298,434 |
Considering the genetic mutation at chromosome 19, position 11116166, impacting LDLR (low density lipoprotein receptor): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hypercholesterolemia,_familial,_1'] | AAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCT | AAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTAATACTTTCAGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAA | pathogenic | 298,439 |
For chromosome 19, position 11116168, gene LDLR (low density lipoprotein receptor): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | AAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGG | AAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGAGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAA | pathogenic | 298,440 |
Is the genetic change at chromosome 19, position 11116193, within gene LDLR (low density lipoprotein receptor) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | GCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCC | GCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGC | pathogenic | 298,450 |
Determine whether the variant at chromosome 19, position 11116205, in gene LDLR (low density lipoprotein receptor) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTA | GATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATGCCCAATGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTA | pathogenic | 298,457 |
Gene LDLR (low density lipoprotein receptor) variant at chromosome position 11116211 on chromosome 19: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | ATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTT | ATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTN | pathogenic | 298,461 |
Clinically, how would you classify the variant at chromosome 19, position 11116214, gene LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | TTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTA | TTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTCATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTT | pathogenic | 298,465 |
Variant in gene LDLR (low density lipoprotein receptor), located at chromosome 19 position 11116868: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | ATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGC | ATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAACGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCNNNN | pathogenic | 298,485 |
Clinical significance of chromosome 19, position 11116869, gene LDLR (low density lipoprotein receptor): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hypercholesterolemia,_familial,_1'] | TTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCC | TTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCN | pathogenic | 298,486 |
Variant in LDLR (low density lipoprotein receptor), chromosome 19, position 11116889—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | AGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGG | AGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGATCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGN | pathogenic | 298,497 |
Considering the genetic mutation at chromosome 19, position 11116899, impacting LDLR (low density lipoprotein receptor): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hypercholesterolemia,_familial,_1'] | TGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC | TGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCNNNNN | pathogenic | 298,500 |
Variant at chromosome position 11116903, chromosome 19, gene LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGA | GCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAN | pathogenic | 298,505 |
Is the genetic change at chromosome 19, position 11116908, within gene LDLR (low density lipoprotein receptor) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATG | GGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGN | pathogenic | 298,508 |
Mutation at chromosome 19, position 11116926, within LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | TGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCG | TGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGN | pathogenic | 298,514 |
Does the variant impacting LDLR (low density lipoprotein receptor) on chromosome 19, position 11116935, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | CTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA | CTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCANNNNNNN | pathogenic | 298,519 |
The genetic variant at chromosome 19, position 11116957, affecting gene LDLR (low density lipoprotein receptor): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype'] | AGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTG | AGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACT | pathogenic | 298,525 |
Evaluate if the mutation on chromosome 19 at position 11116965 in LDLR (low density lipoprotein receptor) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAG | GTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGNNNNNNNNNNN | pathogenic | 298,526 |
Located at chromosome 19 position 11116979, 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'] | TCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAG | TCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGNNN | pathogenic | 298,533 |
Clinical impact (benign or pathogenic) of the variant at chromosome 19, location 11116997, gene LDLR (low density lipoprotein receptor): what disease(s) if pathogenic? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | AGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAA | AGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAN | pathogenic | 298,540 |
Does the genetic variant at chromosome 19, position 11116999, impacting gene LDLR (low density lipoprotein receptor), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Familial_hypercholesterolemia', 'Homozygous_familial_hypercholesterolemia'] | GATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAA | GATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAN | pathogenic | 298,544 |
Regarding the variant at chromosome 19 and position 11120094, affecting gene LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Familial_hypercholesterolemia'] | AAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCA | AAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAN | pathogenic | 298,555 |
Is the variant located on chromosome 19 at position 11120112, gene LDLR (low density lipoprotein receptor), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia'] | AGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTG | AGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATAATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGT | pathogenic | 298,567 |
Determine if the mutation at chromosome 19, position 11120112 in gene LDLR (low density lipoprotein receptor) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | AGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTG | AGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGNNN | pathogenic | 298,568 |
Clinical impact (benign or pathogenic) of the variant at chromosome 19, location 11120122, gene LDLR (low density lipoprotein receptor): what disease(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | GTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGC | GTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCN | pathogenic | 298,571 |
Gene LDLR (low density lipoprotein receptor) variant at chromosome 19, position 11120128—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | GGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTG | GGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGN | pathogenic | 298,576 |
Clinical significance of chromosome 19, position 11120147, gene LDLR (low density lipoprotein receptor): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | ACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGT | ACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTNN | pathogenic | 298,581 |
Is the chromosome 19, position 11120155 variant in LDLR (low density lipoprotein receptor) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Homozygous_familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | CGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCA | CGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCAN | pathogenic | 298,582 |
Chromosome 19, position 11120176, gene LDLR (low density lipoprotein receptor): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Cardiovascular_phenotype', 'Hypercholesterolemia,_familial,_1'] | TAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTG | TAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCT | pathogenic | 298,588 |
Clinical impact (benign or pathogenic) of the variant at chromosome 19, location 11120180, gene LDLR (low density lipoprotein receptor): what disease(s) if pathogenic? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTA | GATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAN | pathogenic | 298,589 |
A genetic variant at chromosome 19, position 11120192, affecting gene LDLR (low density lipoprotein receptor)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | CCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCA | CCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGA | pathogenic | 298,594 |
Variant at chromosome 19, position 11120197, gene LDLR (low density lipoprotein receptor): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | TTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGC | TTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCNN | pathogenic | 298,598 |
The mutation impacting LDLR (low density lipoprotein receptor) on chromosome 19 at position 11120203: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hypercholesterolemia,_familial,_1'] | AGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCA 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AGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCC | pathogenic | 298,600 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 19, position 11120208, gene LDLR (low density lipoprotein receptor). What disease(s) is it linked to if pathogenic? | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | GGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACG | GGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGN | pathogenic | 298,604 |
Does the variant on chromosome 19 at location 11120379 affecting gene LDLR (low density lipoprotein receptor) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | TCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG | TCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGNN | pathogenic | 298,626 |
Is the genetic variant on chromosome 19, position 11120396, gene LDLR (low density lipoprotein receptor), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | TGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCA | TGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAN | pathogenic | 298,636 |
Clinical significance of chromosome 19, position 11120403, gene LDLR (low density lipoprotein receptor): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hypercholesterolemia,_familial,_1'] | AGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGA | AGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATTGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGG | pathogenic | 298,637 |
Does the chromosome 19 mutation at position 11120407 within gene LDLR (low density lipoprotein receptor) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Cardiovascular_phenotype', 'Hypercholesterolemia,_familial,_1'] | AATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGC | AATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCN | pathogenic | 298,641 |
Variant at chromosome position 11120411, chromosome 19, gene LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTG | GGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGNNNNNNNNNNNNN | pathogenic | 298,644 |
Gene LDLR (low density lipoprotein receptor) variant at chromosome 19, position 11120432—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | TGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGCCATGATCTCAGCTCACTGCA | TGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGCCATGATCTCAGCTCACTGCAN | pathogenic | 298,655 |
For chromosome 19, position 11120432, gene LDLR (low density lipoprotein receptor): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia'] | TGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGCCATGATCTCAGCTCACTGCA | TGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGCCATGATCTCAGCTCACTGCANNNNNNNNNNNNNN | pathogenic | 298,656 |
Considering the genetic mutation at chromosome 19, position 11120442, impacting LDLR (low density lipoprotein receptor): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Homozygous_familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | CTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGCCATGATCTCAGCTCACTGCAAGCTCCACTT | CTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGCCATGATCTCAGCTCACTGCAAGCTCCACT | pathogenic | 298,663 |
Is the variant located on chromosome 19 at position 11120442, gene LDLR (low density lipoprotein receptor), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Hypercholesterolemia,_familial,_1'] | CTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGCCATGATCTCAGCTCACTGCAAGCTCCACTT | CTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGCCATGATCTCAGCTCACTGCAAGCTCCACTTN | pathogenic | 298,664 |
Determine whether the variant at chromosome 19, position 11120443, in gene LDLR (low density lipoprotein receptor) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | TGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGCCATGATCTCAGCTCACTGCAAGCTCCACTTC | TGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGCCATGATCTCAGCTCACTGCAAGCTCCACTT | pathogenic | 298,665 |
Evaluate this variant at chromosome 19, position 11120445, gene LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGCCATGATCTCAGCTCACTGCAAGCTCCACTTCCC | GTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGCCATGATCTCAGCTCACTGCAAGCTCCACTTCC | pathogenic | 298,666 |
Is the genetic mutation found on chromosome 19 at position 11120445, within the gene LDLR (low density lipoprotein receptor), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | GTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGCCATGATCTCAGCTCACTGCAAGCTCCACTTCCC | GTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGCCATGATCTCAGCTCACTGCAAGCTCCACTTCCCN | pathogenic | 298,667 |
Is chromosome 19, position 11120458, gene LDLR (low density lipoprotein receptor) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | ACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGCCATGATCTCAGCTCACTGCAAGCTCCACTTCCCAGGCTCACGCCAT | ACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGCCATGATCTCAGCTCACTGCAAGCTCCACTTCCCAGGCTCACGCCATNN | pathogenic | 298,671 |
Chromosome 19, position 11120465, gene LDLR (low density lipoprotein receptor): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGCCATGATCTCAGCTCACTGCAAGCTCCACTTCCCAGGCTCACGCCATTCTCCAG | GAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGCCATGATCTCAGCTCACTGCAAGCTCCACTTCCCAGGCTCACGCCATTCTCCAGNNNNNNNNNNNNNNNNNNN | pathogenic | 298,672 |
Chromosome 19, position 11120473, gene LDLR (low density lipoprotein receptor): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | AAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGCCATGATCTCAGCTCACTGCAAGCTCCACTTCCCAGGCTCACGCCATTCTCCAGCCTCAGCC | AAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGCCATGATCTCAGCTCACTGCAAGCTCCACTTCCCAGGCTCACGCCATTCTCCAGCCTCAGCCN | pathogenic | 298,678 |
The mutation impacting LDLR (low density lipoprotein receptor) on chromosome 19 at position 11120475: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | GTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGCCATGATCTCAGCTCACTGCAAGCTCCACTTCCCAGGCTCACGCCATTCTCCAGCCTCAGCCTC | GTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGCCATGATCTCAGCTCACTGCAAGCTCCACTTCCCAGGCTCACGCCATTCTCCAGCCTCAGCCTCN | pathogenic | 298,682 |
Benign or pathogenic: chromosome 19, position 11120487, gene LDLR (low density lipoprotein receptor) variant? Disease(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | AGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGCCATGATCTCAGCTCACTGCAAGCTCCACTTCCCAGGCTCACGCCATTCTCCAGCCTCAGCCTCCCAAGTAGCTGA | AGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGCCATGATCTCAGCTCACTGCAAGCTCCACTTCCCAGGCTCACGCCATTCTCCAGCCTCAGCCTCCCAAG | pathogenic | 298,686 |
Assess the variant on chromosome 19, position 11123198, impacting LDLR (low density lipoprotein receptor): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Cardiovascular_phenotype', 'Hypercholesterolemia,_familial,_1'] | CTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGCCATGATCTCAGCTCACTGCAAGCTCCACTTCCCAGGCTCACGCCATTCTCCAGCCTCAGCCTCCCAAGTAGCTGAGACTACAGGGGCCCGCCACCACACTCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTTGAACTCCTAACCTCAGGCGATTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGTATGAGCCACCTCGCCTGGTGTGAGCCACCTCGCCCAGCCTGAGCCACCTCACCCAGCCTAAGCCACTGTGCCTGGCCTGATTTTGGACTTTTTAAAAATTTTATTAATAATTATTTTTGGGTTTCTTTTTTTTGAGACAGGGTCTTACTCTGTCATCCAGGCCATCCTGTCTGTCTGTCATCCCAGTGATGGGATCATACCTTGCTGCAGCCTCTACCTCCTGGGCTCAAGCGATCCTCCCCCCTCAGCCTCCTGAGTAGCTGGGAGTACAGGTGTGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTTTGTATATAGAGATGGTATTTTGCCATGTTGACCAGGCTAGTCTTAAACTCCTGGACTCACTCAAGAGATCCTCCTGCCTTGGCCTCCCAAGGTCATTTGAGACTTTCGTCATTAGGCGCACACCTATGAGAAGGGCCTGCAGGCACGTGGCACTCAGAAGACGTTTATTTATTCTTTCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCAAGGTAAAGACTGGGCCCTCCCTAGGCCCCTCTTCACCCAGAGACGGGTCCCTTCAGTGGCCACGAACATTTTGGTCACGAGATGGAGTCCAGGTGTCGTCCTCACTCCCTTGCTGACCTTCTCTCACTTGGGCCGTGTGTCTCTGGGCCCTCAGTTTCCCTATCTGTAAAGTGGGTCTAATAACAGTTCTTGCCCTCTTTGCAAGGATTAAATGGGCCAAATCATATGAGGGGCCAGGTCCTTCAGGCTCCTGGTTCCCAAAGTCAGCCACGCACCGTGTGGGTCCCAAAATTTTATCAAGGCACATTCGTTGCCTCAGCTTCAGGCATCTGCCCAAAAAGGCCAGGACTAAGGCAAGGAGAGGGAGGGATTCCTCAGTACTCAGCTTTTCACAGAGGCTCCAAAAGGCTAAGGAATCCAGTAACGTTTTAACACAATTTTACAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGGCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCTCGGCTAATTTTGTATTTTTAGTACAGAAGGGGCTTCTCTGTTGGTCAGGCTGGTCGTGAACTCTCAACCTCAGGTGAGCCACCCGCCTGAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCTGGCCTTTTTTTTGAGACAGAGTCTCGCTCTCGCCCATGCTGTACTGCAGTGACGCAGTCTGGGCTCACTGTAACCTCCGCTTCCCAGGTTCAAGTGATTCTTCTGCCGCAGCCTCCCATGTAGAGTAGCTGGGATTACAGGCACCCGCCACCATGCCTGGCTAATTCTTGCATTTTTAGTAGAGATGGGGTTTCACAGTGTTGGCCAGGCTGGTCTCAAACTTCTGACCTCAAGTCATCTGCCTGCCTTGGCCCTGCCAAAGTGCTGGGATTATAGATGTGAGCCACCGCGCCTGGCCTACAGTTTATTCTTTGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCAAGGTGGGAGAATGGCTTGAGCCCAGGAGTTCAAGTCCAGCCTGGGCAACATAGCAAGACCCTATCTCTACTACAAAATAAATAATAAATAAACTAATTTTTTTTCTTTTAAAACCCAACTATTCAACATGGCAATGCAATATATTAAAAAAATTTTTTTTTTCTTTGAAACGGAGTCTCTCACTGTCACCCGGGCTGGAGTGCAGTGTCGCCATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTCCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCACCACCATACCCAGCTAATATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGGCAGGCTGGTCTGGAACTCCTGACCTCGTGATCTGCCCGAGGATCGGCGGCCTCCCAAAGTGCTGGGGATTGCAGGCATGAGCCACCGTGCCCAGCCAAAACTTTTTTATTTTTATTTTTTTGGGACACGGTCTCACTGTGTACCCCAGACTGGAGTGATAGAGTGCTGTCATGGCTCACTGCAGCCTCAACCTCCCTGGGCTCAGGTGATCTTCCTGCTTCAGTCTCCCAGGTAGCTGGGACTACAGGCATGAGCCACCACACCCAGCTAATTTTTGAATTTTTTTGTAGAGACAGGGTTTCACCTTGTGGCCCAGACTTGTCTCTAACTCCAGGGCTCAAGCGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTAATGCAATTTAAAAAATTTTTTGGCCAGGCCTGGTGGCTCATGCCTGTATTCACAACACCTTGGGAGGCAAAGGTGGGCAGA | CTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGCCATGATCTCAGCTCACTGCAAGCTCCACTTCCCAGGCTCACGCCATTCTCCAGCCTCAGCCTCCCAAGTAGCTGAGACTACAGGGGCCCGCCACCACACTCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTTGAACTCCTAACCTCAGGCGATTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGTATGAGCCACCTCGCCTGGTGTGAGCCACCTCGCCCAGCCTGAGCCACCTCACCCAGCCTAAGCCACTGTGCCTGGCCTGATTTTGGACTTTTTAAAAATTTTATTAATAATTATTTTTGGGTTTCTTTTTTTTGAGACAGGGTCTTACTCTGTCATCCAGGCCATCCTGTCTGTCTGTCATCCCAGTGATGGGATCATACCTTGCTGCAGCCTCTACCTCCTGGGCTCAAGCGATCCTCCCCCCTCAGCCTCCTGAGTAGCTGGGAGTACAGGTGTGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTTTGTATATAGAGATGGTATTTTGCCATGTTGACCAGGCTAGTCTTAAACTCCTGGACTCACTCAAGAGATCCTCCTGCCTTGGCCTCCCAAGGTCATTTGAGACTTTCGTCATTAGGCGCACACCTATGAGAAGGGCCTGCAGGCACGTGGCACTCAGAAGACGTTTATTTATTCTTTCAGAGGCTGAGGCTGCAGTGGCCACCCAGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCAAGGTAAAGACTGGGCCCTCCCTAGGCCCCTCTTCACCCAGAGACGGGTCCCTTCAGTGGCCACGAACATTTTGGTCACGAGATGGAGTCCAGGTGTCGTCCTCACTCCCTTGCTGACCTTCTCTCACTTGGGCCGTGTGTCTCTGGGCCCTCAGTTTCCCTATCTGTAAAGTGGGTCTAATAACAGTTCTTGCCCTCTTTGCAAGGATTAAATGGGCCAAATCATATGAGGGGCCAGGTCCTTCAGGCTCCTGGTTCCCAAAGTCAGCCACGCACCGTGTGGGTCCCAAAATTTTATCAAGGCACATTCGTTGCCTCAGCTTCAGGCATCTGCCCAAAAAGGCCAGGACTAAGGCAAGGAGAGGGAGGGATTCCTCAGTACTCAGCTTTTCACAGAGGCTCCAAAAGGCTAAGGAATCCAGTAACGTTTTAACACAATTTTACAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGGCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCTCGGCTAATTTTGTATTTTTAGTACAGAAGGGGCTTCTCTGTTGGTCAGGCTGGTCGTGAACTCTCAACCTCAGGTGAGCCACCCGCCTGAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCTGGCCTTTTTTTTGAGACAGAGTCTCGCTCTCGCCCATGCTGTACTGCAGTGACGCAGTCTGGGCTCACTGTAACCTCCGCTTCCCAGGTTCAAGTGATTCTTCTGCCGCAGCCTCCCATGTAGAGTAGCTGGGATTACAGGCACCCGCCACCATGCCTGGCTAATTCTTGCATTTTTAGTAGAGATGGGGTTTCACAGTGTTGGCCAGGCTGGTCTCAAACTTCTGACCTCAAGTCATCTGCCTGCCTTGGCCCTGCCAAAGTGCTGGGATTATAGATGTGAGCCACCGCGCCTGGCCTACAGTTTATTCTTTGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCAAGGTGGGAGAATGGCTTGAGCCCAGGAGTTCAAGTCCAGCCTGGGCAACATAGCAAGACCCTATCTCTACTACAAAATAAATAATAAATAAACTAATTTTTTTTCTTTTAAAACCCAACTATTCAACATGGCAATGCAATATATTAAAAAAATTTTTTTTTTCTTTGAAACGGAGTCTCTCACTGTCACCCGGGCTGGAGTGCAGTGTCGCCATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTCCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCACCACCATACCCAGCTAATATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGGCAGGCTGGTCTGGAACTCCTGACCTCGTGATCTGCCCGAGGATCGGCGGCCTCCCAAAGTGCTGGGGATTGCAGGCATGAGCCACCGTGCCCAGCCAAAACTTTTTTATTTTTATTTTTTTGGGACACGGTCTCACTGTGTACCCCAGACTGGAGTGATAGAGTGCTGTCATGGCTCACTGCAGCCTCAACCTCCCTGGGCTCAGGTGATCTTCCTGCTTCAGTCTCCCAGGTAGCTGGGACTACAGGCATGAGCCACCACACCCAGCTAATTTTTGAATTTTTTTGTAGAGACAGGGTTTCACCTTGTGGCCCAGACTTGTCTCTAACTCCAGGGCTCAAGCGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTAATGCAATTTAAAAAATTTTTTGGCCAGGCCTGGTGGCTCATGCCTGTATTCACAACACCTTGGGAGGCAAAGGTGGGCAGAN | pathogenic | 298,704 |
The genetic variant at chromosome 19, position 11123209, affecting gene LDLR (low density lipoprotein receptor): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | TGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGCCATGATCTCAGCTCACTGCAAGCTCCACTTCCCAGGCTCACGCCATTCTCCAGCCTCAGCCTCCCAAGTAGCTGAGACTACAGGGGCCCGCCACCACACTCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTTGAACTCCTAACCTCAGGCGATTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGTATGAGCCACCTCGCCTGGTGTGAGCCACCTCGCCCAGCCTGAGCCACCTCACCCAGCCTAAGCCACTGTGCCTGGCCTGATTTTGGACTTTTTAAAAATTTTATTAATAATTATTTTTGGGTTTCTTTTTTTTGAGACAGGGTCTTACTCTGTCATCCAGGCCATCCTGTCTGTCTGTCATCCCAGTGATGGGATCATACCTTGCTGCAGCCTCTACCTCCTGGGCTCAAGCGATCCTCCCCCCTCAGCCTCCTGAGTAGCTGGGAGTACAGGTGTGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTTTGTATATAGAGATGGTATTTTGCCATGTTGACCAGGCTAGTCTTAAACTCCTGGACTCACTCAAGAGATCCTCCTGCCTTGGCCTCCCAAGGTCATTTGAGACTTTCGTCATTAGGCGCACACCTATGAGAAGGGCCTGCAGGCACGTGGCACTCAGAAGACGTTTATTTATTCTTTCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCAAGGTAAAGACTGGGCCCTCCCTAGGCCCCTCTTCACCCAGAGACGGGTCCCTTCAGTGGCCACGAACATTTTGGTCACGAGATGGAGTCCAGGTGTCGTCCTCACTCCCTTGCTGACCTTCTCTCACTTGGGCCGTGTGTCTCTGGGCCCTCAGTTTCCCTATCTGTAAAGTGGGTCTAATAACAGTTCTTGCCCTCTTTGCAAGGATTAAATGGGCCAAATCATATGAGGGGCCAGGTCCTTCAGGCTCCTGGTTCCCAAAGTCAGCCACGCACCGTGTGGGTCCCAAAATTTTATCAAGGCACATTCGTTGCCTCAGCTTCAGGCATCTGCCCAAAAAGGCCAGGACTAAGGCAAGGAGAGGGAGGGATTCCTCAGTACTCAGCTTTTCACAGAGGCTCCAAAAGGCTAAGGAATCCAGTAACGTTTTAACACAATTTTACAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGGCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCTCGGCTAATTTTGTATTTTTAGTACAGAAGGGGCTTCTCTGTTGGTCAGGCTGGTCGTGAACTCTCAACCTCAGGTGAGCCACCCGCCTGAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCTGGCCTTTTTTTTGAGACAGAGTCTCGCTCTCGCCCATGCTGTACTGCAGTGACGCAGTCTGGGCTCACTGTAACCTCCGCTTCCCAGGTTCAAGTGATTCTTCTGCCGCAGCCTCCCATGTAGAGTAGCTGGGATTACAGGCACCCGCCACCATGCCTGGCTAATTCTTGCATTTTTAGTAGAGATGGGGTTTCACAGTGTTGGCCAGGCTGGTCTCAAACTTCTGACCTCAAGTCATCTGCCTGCCTTGGCCCTGCCAAAGTGCTGGGATTATAGATGTGAGCCACCGCGCCTGGCCTACAGTTTATTCTTTGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCAAGGTGGGAGAATGGCTTGAGCCCAGGAGTTCAAGTCCAGCCTGGGCAACATAGCAAGACCCTATCTCTACTACAAAATAAATAATAAATAAACTAATTTTTTTTCTTTTAAAACCCAACTATTCAACATGGCAATGCAATATATTAAAAAAATTTTTTTTTTCTTTGAAACGGAGTCTCTCACTGTCACCCGGGCTGGAGTGCAGTGTCGCCATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTCCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCACCACCATACCCAGCTAATATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGGCAGGCTGGTCTGGAACTCCTGACCTCGTGATCTGCCCGAGGATCGGCGGCCTCCCAAAGTGCTGGGGATTGCAGGCATGAGCCACCGTGCCCAGCCAAAACTTTTTTATTTTTATTTTTTTGGGACACGGTCTCACTGTGTACCCCAGACTGGAGTGATAGAGTGCTGTCATGGCTCACTGCAGCCTCAACCTCCCTGGGCTCAGGTGATCTTCCTGCTTCAGTCTCCCAGGTAGCTGGGACTACAGGCATGAGCCACCACACCCAGCTAATTTTTGAATTTTTTTGTAGAGACAGGGTTTCACCTTGTGGCCCAGACTTGTCTCTAACTCCAGGGCTCAAGCGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTAATGCAATTTAAAAAATTTTTTGGCCAGGCCTGGTGGCTCATGCCTGTATTCACAACACCTTGGGAGGCAAAGGTGGGCAGATCACTTGAGGT | TGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGCCATGATCTCAGCTCACTGCAAGCTCCACTTCCCAGGCTCACGCCATTCTCCAGCCTCAGCCTCCCAAGTAGCTGAGACTACAGGGGCCCGCCACCACACTCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTTGAACTCCTAACCTCAGGCGATTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGTATGAGCCACCTCGCCTGGTGTGAGCCACCTCGCCCAGCCTGAGCCACCTCACCCAGCCTAAGCCACTGTGCCTGGCCTGATTTTGGACTTTTTAAAAATTTTATTAATAATTATTTTTGGGTTTCTTTTTTTTGAGACAGGGTCTTACTCTGTCATCCAGGCCATCCTGTCTGTCTGTCATCCCAGTGATGGGATCATACCTTGCTGCAGCCTCTACCTCCTGGGCTCAAGCGATCCTCCCCCCTCAGCCTCCTGAGTAGCTGGGAGTACAGGTGTGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTTTGTATATAGAGATGGTATTTTGCCATGTTGACCAGGCTAGTCTTAAACTCCTGGACTCACTCAAGAGATCCTCCTGCCTTGGCCTCCCAAGGTCATTTGAGACTTTCGTCATTAGGCGCACACCTATGAGAAGGGCCTGCAGGCACGTGGCACTCAGAAGACGTTTATTTATTCTTTCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCAAGGTAAAGACTGGGCCCTCCCTAGGCCCCTCTTCACCCAGAGACGGGTCCCTTCAGTGGCCACGAACATTTTGGTCACGAGATGGAGTCCAGGTGTCGTCCTCACTCCCTTGCTGACCTTCTCTCACTTGGGCCGTGTGTCTCTGGGCCCTCAGTTTCCCTATCTGTAAAGTGGGTCTAATAACAGTTCTTGCCCTCTTTGCAAGGATTAAATGGGCCAAATCATATGAGGGGCCAGGTCCTTCAGGCTCCTGGTTCCCAAAGTCAGCCACGCACCGTGTGGGTCCCAAAATTTTATCAAGGCACATTCGTTGCCTCAGCTTCAGGCATCTGCCCAAAAAGGCCAGGACTAAGGCAAGGAGAGGGAGGGATTCCTCAGTACTCAGCTTTTCACAGAGGCTCCAAAAGGCTAAGGAATCCAGTAACGTTTTAACACAATTTTACAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGGCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCTCGGCTAATTTTGTATTTTTAGTACAGAAGGGGCTTCTCTGTTGGTCAGGCTGGTCGTGAACTCTCAACCTCAGGTGAGCCACCCGCCTGAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCTGGCCTTTTTTTTGAGACAGAGTCTCGCTCTCGCCCATGCTGTACTGCAGTGACGCAGTCTGGGCTCACTGTAACCTCCGCTTCCCAGGTTCAAGTGATTCTTCTGCCGCAGCCTCCCATGTAGAGTAGCTGGGATTACAGGCACCCGCCACCATGCCTGGCTAATTCTTGCATTTTTAGTAGAGATGGGGTTTCACAGTGTTGGCCAGGCTGGTCTCAAACTTCTGACCTCAAGTCATCTGCCTGCCTTGGCCCTGCCAAAGTGCTGGGATTATAGATGTGAGCCACCGCGCCTGGCCTACAGTTTATTCTTTGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCAAGGTGGGAGAATGGCTTGAGCCCAGGAGTTCAAGTCCAGCCTGGGCAACATAGCAAGACCCTATCTCTACTACAAAATAAATAATAAATAAACTAATTTTTTTTCTTTTAAAACCCAACTATTCAACATGGCAATGCAATATATTAAAAAAATTTTTTTTTTCTTTGAAACGGAGTCTCTCACTGTCACCCGGGCTGGAGTGCAGTGTCGCCATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTCCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCACCACCATACCCAGCTAATATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGGCAGGCTGGTCTGGAACTCCTGACCTCGTGATCTGCCCGAGGATCGGCGGCCTCCCAAAGTGCTGGGGATTGCAGGCATGAGCCACCGTGCCCAGCCAAAACTTTTTTATTTTTATTTTTTTGGGACACGGTCTCACTGTGTACCCCAGACTGGAGTGATAGAGTGCTGTCATGGCTCACTGCAGCCTCAACCTCCCTGGGCTCAGGTGATCTTCCTGCTTCAGTCTCCCAGGTAGCTGGGACTACAGGCATGAGCCACCACACCCAGCTAATTTTTGAATTTTTTTGTAGAGACAGGGTTTCACCTTGTGGCCCAGACTTGTCTCTAACTCCAGGGCTCAAGCGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTAATGCAATTTAAAAAATTTTTTGGCCAGGCCTGGTGGCTCATGCCTGTATTCACAACACCTTGGGAGGCAAAGGTGGGCAGATCACTTGAGGTN | pathogenic | 298,706 |
Located at chromosome 19 position 11123211, the variant affecting gene LDLR (low density lipoprotein receptor)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | AATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGCCATGATCTCAGCTCACTGCAAGCTCCACTTCCCAGGCTCACGCCATTCTCCAGCCTCAGCCTCCCAAGTAGCTGAGACTACAGGGGCCCGCCACCACACTCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTTGAACTCCTAACCTCAGGCGATTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGTATGAGCCACCTCGCCTGGTGTGAGCCACCTCGCCCAGCCTGAGCCACCTCACCCAGCCTAAGCCACTGTGCCTGGCCTGATTTTGGACTTTTTAAAAATTTTATTAATAATTATTTTTGGGTTTCTTTTTTTTGAGACAGGGTCTTACTCTGTCATCCAGGCCATCCTGTCTGTCTGTCATCCCAGTGATGGGATCATACCTTGCTGCAGCCTCTACCTCCTGGGCTCAAGCGATCCTCCCCCCTCAGCCTCCTGAGTAGCTGGGAGTACAGGTGTGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTTTGTATATAGAGATGGTATTTTGCCATGTTGACCAGGCTAGTCTTAAACTCCTGGACTCACTCAAGAGATCCTCCTGCCTTGGCCTCCCAAGGTCATTTGAGACTTTCGTCATTAGGCGCACACCTATGAGAAGGGCCTGCAGGCACGTGGCACTCAGAAGACGTTTATTTATTCTTTCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCAAGGTAAAGACTGGGCCCTCCCTAGGCCCCTCTTCACCCAGAGACGGGTCCCTTCAGTGGCCACGAACATTTTGGTCACGAGATGGAGTCCAGGTGTCGTCCTCACTCCCTTGCTGACCTTCTCTCACTTGGGCCGTGTGTCTCTGGGCCCTCAGTTTCCCTATCTGTAAAGTGGGTCTAATAACAGTTCTTGCCCTCTTTGCAAGGATTAAATGGGCCAAATCATATGAGGGGCCAGGTCCTTCAGGCTCCTGGTTCCCAAAGTCAGCCACGCACCGTGTGGGTCCCAAAATTTTATCAAGGCACATTCGTTGCCTCAGCTTCAGGCATCTGCCCAAAAAGGCCAGGACTAAGGCAAGGAGAGGGAGGGATTCCTCAGTACTCAGCTTTTCACAGAGGCTCCAAAAGGCTAAGGAATCCAGTAACGTTTTAACACAATTTTACAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGGCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCTCGGCTAATTTTGTATTTTTAGTACAGAAGGGGCTTCTCTGTTGGTCAGGCTGGTCGTGAACTCTCAACCTCAGGTGAGCCACCCGCCTGAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCTGGCCTTTTTTTTGAGACAGAGTCTCGCTCTCGCCCATGCTGTACTGCAGTGACGCAGTCTGGGCTCACTGTAACCTCCGCTTCCCAGGTTCAAGTGATTCTTCTGCCGCAGCCTCCCATGTAGAGTAGCTGGGATTACAGGCACCCGCCACCATGCCTGGCTAATTCTTGCATTTTTAGTAGAGATGGGGTTTCACAGTGTTGGCCAGGCTGGTCTCAAACTTCTGACCTCAAGTCATCTGCCTGCCTTGGCCCTGCCAAAGTGCTGGGATTATAGATGTGAGCCACCGCGCCTGGCCTACAGTTTATTCTTTGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCAAGGTGGGAGAATGGCTTGAGCCCAGGAGTTCAAGTCCAGCCTGGGCAACATAGCAAGACCCTATCTCTACTACAAAATAAATAATAAATAAACTAATTTTTTTTCTTTTAAAACCCAACTATTCAACATGGCAATGCAATATATTAAAAAAATTTTTTTTTTCTTTGAAACGGAGTCTCTCACTGTCACCCGGGCTGGAGTGCAGTGTCGCCATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTCCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCACCACCATACCCAGCTAATATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGGCAGGCTGGTCTGGAACTCCTGACCTCGTGATCTGCCCGAGGATCGGCGGCCTCCCAAAGTGCTGGGGATTGCAGGCATGAGCCACCGTGCCCAGCCAAAACTTTTTTATTTTTATTTTTTTGGGACACGGTCTCACTGTGTACCCCAGACTGGAGTGATAGAGTGCTGTCATGGCTCACTGCAGCCTCAACCTCCCTGGGCTCAGGTGATCTTCCTGCTTCAGTCTCCCAGGTAGCTGGGACTACAGGCATGAGCCACCACACCCAGCTAATTTTTGAATTTTTTTGTAGAGACAGGGTTTCACCTTGTGGCCCAGACTTGTCTCTAACTCCAGGGCTCAAGCGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTAATGCAATTTAAAAAATTTTTTGGCCAGGCCTGGTGGCTCATGCCTGTATTCACAACACCTTGGGAGGCAAAGGTGGGCAGATCACTTGAGGTCA | AATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGCCATGATCTCAGCTCACTGCAAGCTCCACTTCCCAGGCTCACGCCATTCTCCAGCCTCAGCCTCCCAAGTAGCTGAGACTACAGGGGCCCGCCACCACACTCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTTGAACTCCTAACCTCAGGCGATTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGTATGAGCCACCTCGCCTGGTGTGAGCCACCTCGCCCAGCCTGAGCCACCTCACCCAGCCTAAGCCACTGTGCCTGGCCTGATTTTGGACTTTTTAAAAATTTTATTAATAATTATTTTTGGGTTTCTTTTTTTTGAGACAGGGTCTTACTCTGTCATCCAGGCCATCCTGTCTGTCTGTCATCCCAGTGATGGGATCATACCTTGCTGCAGCCTCTACCTCCTGGGCTCAAGCGATCCTCCCCCCTCAGCCTCCTGAGTAGCTGGGAGTACAGGTGTGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTTTGTATATAGAGATGGTATTTTGCCATGTTGACCAGGCTAGTCTTAAACTCCTGGACTCACTCAAGAGATCCTCCTGCCTTGGCCTCCCAAGGTCATTTGAGACTTTCGTCATTAGGCGCACACCTATGAGAAGGGCCTGCAGGCACGTGGCACTCAGAAGACGTTTATTTATTCTTTCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCAAGGTAAAGACTGGGCCCTCCCTAGGCCCCTCTTCACCCAGAGACGGGTCCCTTCAGTGGCCACGAACATTTTGGTCACGAGATGGAGTCCAGGTGTCGTCCTCACTCCCTTGCTGACCTTCTCTCACTTGGGCCGTGTGTCTCTGGGCCCTCAGTTTCCCTATCTGTAAAGTGGGTCTAATAACAGTTCTTGCCCTCTTTGCAAGGATTAAATGGGCCAAATCATATGAGGGGCCAGGTCCTTCAGGCTCCTGGTTCCCAAAGTCAGCCACGCACCGTGTGGGTCCCAAAATTTTATCAAGGCACATTCGTTGCCTCAGCTTCAGGCATCTGCCCAAAAAGGCCAGGACTAAGGCAAGGAGAGGGAGGGATTCCTCAGTACTCAGCTTTTCACAGAGGCTCCAAAAGGCTAAGGAATCCAGTAACGTTTTAACACAATTTTACAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGGCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCTCGGCTAATTTTGTATTTTTAGTACAGAAGGGGCTTCTCTGTTGGTCAGGCTGGTCGTGAACTCTCAACCTCAGGTGAGCCACCCGCCTGAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCTGGCCTTTTTTTTGAGACAGAGTCTCGCTCTCGCCCATGCTGTACTGCAGTGACGCAGTCTGGGCTCACTGTAACCTCCGCTTCCCAGGTTCAAGTGATTCTTCTGCCGCAGCCTCCCATGTAGAGTAGCTGGGATTACAGGCACCCGCCACCATGCCTGGCTAATTCTTGCATTTTTAGTAGAGATGGGGTTTCACAGTGTTGGCCAGGCTGGTCTCAAACTTCTGACCTCAAGTCATCTGCCTGCCTTGGCCCTGCCAAAGTGCTGGGATTATAGATGTGAGCCACCGCGCCTGGCCTACAGTTTATTCTTTGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCAAGGTGGGAGAATGGCTTGAGCCCAGGAGTTCAAGTCCAGCCTGGGCAACATAGCAAGACCCTATCTCTACTACAAAATAAATAATAAATAAACTAATTTTTTTTCTTTTAAAACCCAACTATTCAACATGGCAATGCAATATATTAAAAAAATTTTTTTTTTCTTTGAAACGGAGTCTCTCACTGTCACCCGGGCTGGAGTGCAGTGTCGCCATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTCCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCACCACCATACCCAGCTAATATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGGCAGGCTGGTCTGGAACTCCTGACCTCGTGATCTGCCCGAGGATCGGCGGCCTCCCAAAGTGCTGGGGATTGCAGGCATGAGCCACCGTGCCCAGCCAAAACTTTTTTATTTTTATTTTTTTGGGACACGGTCTCACTGTGTACCCCAGACTGGAGTGATAGAGTGCTGTCATGGCTCACTGCAGCCTCAACCTCCCTGGGCTCAGGTGATCTTCCTGCTTCAGTCTCCCAGGTAGCTGGGACTACAGGCATGAGCCACCACACCCAGCTAATTTTTGAATTTTTTTGTAGAGACAGGGTTTCACCTTGTGGCCCAGACTTGTCTCTAACTCCAGGGCTCAAGCGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTAATGCAATTTAAAAAATTTTTTGGCCAGGCCTGGTGGCTCATGCCTGTATTCACAACACCTTGGGAGGCAAAGGTGGGCAGATCACTTGA | pathogenic | 298,709 |
Regarding the variant found on chromosome 19 at position 11123215 in gene LDLR (low density lipoprotein receptor): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | TCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGCCATGATCTCAGCTCACTGCAAGCTCCACTTCCCAGGCTCACGCCATTCTCCAGCCTCAGCCTCCCAAGTAGCTGAGACTACAGGGGCCCGCCACCACACTCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTTGAACTCCTAACCTCAGGCGATTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGTATGAGCCACCTCGCCTGGTGTGAGCCACCTCGCCCAGCCTGAGCCACCTCACCCAGCCTAAGCCACTGTGCCTGGCCTGATTTTGGACTTTTTAAAAATTTTATTAATAATTATTTTTGGGTTTCTTTTTTTTGAGACAGGGTCTTACTCTGTCATCCAGGCCATCCTGTCTGTCTGTCATCCCAGTGATGGGATCATACCTTGCTGCAGCCTCTACCTCCTGGGCTCAAGCGATCCTCCCCCCTCAGCCTCCTGAGTAGCTGGGAGTACAGGTGTGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTTTGTATATAGAGATGGTATTTTGCCATGTTGACCAGGCTAGTCTTAAACTCCTGGACTCACTCAAGAGATCCTCCTGCCTTGGCCTCCCAAGGTCATTTGAGACTTTCGTCATTAGGCGCACACCTATGAGAAGGGCCTGCAGGCACGTGGCACTCAGAAGACGTTTATTTATTCTTTCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCAAGGTAAAGACTGGGCCCTCCCTAGGCCCCTCTTCACCCAGAGACGGGTCCCTTCAGTGGCCACGAACATTTTGGTCACGAGATGGAGTCCAGGTGTCGTCCTCACTCCCTTGCTGACCTTCTCTCACTTGGGCCGTGTGTCTCTGGGCCCTCAGTTTCCCTATCTGTAAAGTGGGTCTAATAACAGTTCTTGCCCTCTTTGCAAGGATTAAATGGGCCAAATCATATGAGGGGCCAGGTCCTTCAGGCTCCTGGTTCCCAAAGTCAGCCACGCACCGTGTGGGTCCCAAAATTTTATCAAGGCACATTCGTTGCCTCAGCTTCAGGCATCTGCCCAAAAAGGCCAGGACTAAGGCAAGGAGAGGGAGGGATTCCTCAGTACTCAGCTTTTCACAGAGGCTCCAAAAGGCTAAGGAATCCAGTAACGTTTTAACACAATTTTACAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGGCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCTCGGCTAATTTTGTATTTTTAGTACAGAAGGGGCTTCTCTGTTGGTCAGGCTGGTCGTGAACTCTCAACCTCAGGTGAGCCACCCGCCTGAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCTGGCCTTTTTTTTGAGACAGAGTCTCGCTCTCGCCCATGCTGTACTGCAGTGACGCAGTCTGGGCTCACTGTAACCTCCGCTTCCCAGGTTCAAGTGATTCTTCTGCCGCAGCCTCCCATGTAGAGTAGCTGGGATTACAGGCACCCGCCACCATGCCTGGCTAATTCTTGCATTTTTAGTAGAGATGGGGTTTCACAGTGTTGGCCAGGCTGGTCTCAAACTTCTGACCTCAAGTCATCTGCCTGCCTTGGCCCTGCCAAAGTGCTGGGATTATAGATGTGAGCCACCGCGCCTGGCCTACAGTTTATTCTTTGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCAAGGTGGGAGAATGGCTTGAGCCCAGGAGTTCAAGTCCAGCCTGGGCAACATAGCAAGACCCTATCTCTACTACAAAATAAATAATAAATAAACTAATTTTTTTTCTTTTAAAACCCAACTATTCAACATGGCAATGCAATATATTAAAAAAATTTTTTTTTTCTTTGAAACGGAGTCTCTCACTGTCACCCGGGCTGGAGTGCAGTGTCGCCATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTCCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCACCACCATACCCAGCTAATATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGGCAGGCTGGTCTGGAACTCCTGACCTCGTGATCTGCCCGAGGATCGGCGGCCTCCCAAAGTGCTGGGGATTGCAGGCATGAGCCACCGTGCCCAGCCAAAACTTTTTTATTTTTATTTTTTTGGGACACGGTCTCACTGTGTACCCCAGACTGGAGTGATAGAGTGCTGTCATGGCTCACTGCAGCCTCAACCTCCCTGGGCTCAGGTGATCTTCCTGCTTCAGTCTCCCAGGTAGCTGGGACTACAGGCATGAGCCACCACACCCAGCTAATTTTTGAATTTTTTTGTAGAGACAGGGTTTCACCTTGTGGCCCAGACTTGTCTCTAACTCCAGGGCTCAAGCGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTAATGCAATTTAAAAAATTTTTTGGCCAGGCCTGGTGGCTCATGCCTGTATTCACAACACCTTGGGAGGCAAAGGTGGGCAGATCACTTGAGGTCAGGAG | TCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGCCATGATCTCAGCTCACTGCAAGCTCCACTTCCCAGGCTCACGCCATTCTCCAGCCTCAGCCTCCCAAGTAGCTGAGACTACAGGGGCCCGCCACCACACTCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTTGAACTCCTAACCTCAGGCGATTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGTATGAGCCACCTCGCCTGGTGTGAGCCACCTCGCCCAGCCTGAGCCACCTCACCCAGCCTAAGCCACTGTGCCTGGCCTGATTTTGGACTTTTTAAAAATTTTATTAATAATTATTTTTGGGTTTCTTTTTTTTGAGACAGGGTCTTACTCTGTCATCCAGGCCATCCTGTCTGTCTGTCATCCCAGTGATGGGATCATACCTTGCTGCAGCCTCTACCTCCTGGGCTCAAGCGATCCTCCCCCCTCAGCCTCCTGAGTAGCTGGGAGTACAGGTGTGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTTTGTATATAGAGATGGTATTTTGCCATGTTGACCAGGCTAGTCTTAAACTCCTGGACTCACTCAAGAGATCCTCCTGCCTTGGCCTCCCAAGGTCATTTGAGACTTTCGTCATTAGGCGCACACCTATGAGAAGGGCCTGCAGGCACGTGGCACTCAGAAGACGTTTATTTATTCTTTCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCAAGGTAAAGACTGGGCCCTCCCTAGGCCCCTCTTCACCCAGAGACGGGTCCCTTCAGTGGCCACGAACATTTTGGTCACGAGATGGAGTCCAGGTGTCGTCCTCACTCCCTTGCTGACCTTCTCTCACTTGGGCCGTGTGTCTCTGGGCCCTCAGTTTCCCTATCTGTAAAGTGGGTCTAATAACAGTTCTTGCCCTCTTTGCAAGGATTAAATGGGCCAAATCATATGAGGGGCCAGGTCCTTCAGGCTCCTGGTTCCCAAAGTCAGCCACGCACCGTGTGGGTCCCAAAATTTTATCAAGGCACATTCGTTGCCTCAGCTTCAGGCATCTGCCCAAAAAGGCCAGGACTAAGGCAAGGAGAGGGAGGGATTCCTCAGTACTCAGCTTTTCACAGAGGCTCCAAAAGGCTAAGGAATCCAGTAACGTTTTAACACAATTTTACAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGGCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCTCGGCTAATTTTGTATTTTTAGTACAGAAGGGGCTTCTCTGTTGGTCAGGCTGGTCGTGAACTCTCAACCTCAGGTGAGCCACCCGCCTGAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCTGGCCTTTTTTTTGAGACAGAGTCTCGCTCTCGCCCATGCTGTACTGCAGTGACGCAGTCTGGGCTCACTGTAACCTCCGCTTCCCAGGTTCAAGTGATTCTTCTGCCGCAGCCTCCCATGTAGAGTAGCTGGGATTACAGGCACCCGCCACCATGCCTGGCTAATTCTTGCATTTTTAGTAGAGATGGGGTTTCACAGTGTTGGCCAGGCTGGTCTCAAACTTCTGACCTCAAGTCATCTGCCTGCCTTGGCCCTGCCAAAGTGCTGGGATTATAGATGTGAGCCACCGCGCCTGGCCTACAGTTTATTCTTTGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCAAGGTGGGAGAATGGCTTGAGCCCAGGAGTTCAAGTCCAGCCTGGGCAACATAGCAAGACCCTATCTCTACTACAAAATAAATAATAAATAAACTAATTTTTTTTCTTTTAAAACCCAACTATTCAACATGGCAATGCAATATATTAAAAAAATTTTTTTTTTCTTTGAAACGGAGTCTCTCACTGTCACCCGGGCTGGAGTGCAGTGTCGCCATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTCCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCACCACCATACCCAGCTAATATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGGCAGGCTGGTCTGGAACTCCTGACCTCGTGATCTGCCCGAGGATCGGCGGCCTCCCAAAGTGCTGGGGATTGCAGGCATGAGCCACCGTGCCCAGCCAAAACTTTTTTATTTTTATTTTTTTGGGACACGGTCTCACTGTGTACCCCAGACTGGAGTGATAGAGTGCTGTCATGGCTCACTGCAGCCTCAACCTCCCTGGGCTCAGGTGATCTTCCTGCTTCAGTCTCCCAGGTAGCTGGGACTACAGGCATGAGCCACCACACCCAGCTAATTTTTGAATTTTTTTGTAGAGACAGGGTTTCACCTTGTGGCCCAGACTTGTCTCTAACTCCAGGGCTCAAGCGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTAATGCAATTTAAAAAATTTTTTGGCCAGGCCTGGTGGCTCATGCCTGTATTCACAACACCTTGGGAGGCAAAGGTGGGCAGATCACTTGAGGTCAGGAGN | pathogenic | 298,711 |
Assess the variant on chromosome 19, position 11123216, impacting LDLR (low density lipoprotein receptor): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | CCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGCCATGATCTCAGCTCACTGCAAGCTCCACTTCCCAGGCTCACGCCATTCTCCAGCCTCAGCCTCCCAAGTAGCTGAGACTACAGGGGCCCGCCACCACACTCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTTGAACTCCTAACCTCAGGCGATTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGTATGAGCCACCTCGCCTGGTGTGAGCCACCTCGCCCAGCCTGAGCCACCTCACCCAGCCTAAGCCACTGTGCCTGGCCTGATTTTGGACTTTTTAAAAATTTTATTAATAATTATTTTTGGGTTTCTTTTTTTTGAGACAGGGTCTTACTCTGTCATCCAGGCCATCCTGTCTGTCTGTCATCCCAGTGATGGGATCATACCTTGCTGCAGCCTCTACCTCCTGGGCTCAAGCGATCCTCCCCCCTCAGCCTCCTGAGTAGCTGGGAGTACAGGTGTGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTTTGTATATAGAGATGGTATTTTGCCATGTTGACCAGGCTAGTCTTAAACTCCTGGACTCACTCAAGAGATCCTCCTGCCTTGGCCTCCCAAGGTCATTTGAGACTTTCGTCATTAGGCGCACACCTATGAGAAGGGCCTGCAGGCACGTGGCACTCAGAAGACGTTTATTTATTCTTTCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCAAGGTAAAGACTGGGCCCTCCCTAGGCCCCTCTTCACCCAGAGACGGGTCCCTTCAGTGGCCACGAACATTTTGGTCACGAGATGGAGTCCAGGTGTCGTCCTCACTCCCTTGCTGACCTTCTCTCACTTGGGCCGTGTGTCTCTGGGCCCTCAGTTTCCCTATCTGTAAAGTGGGTCTAATAACAGTTCTTGCCCTCTTTGCAAGGATTAAATGGGCCAAATCATATGAGGGGCCAGGTCCTTCAGGCTCCTGGTTCCCAAAGTCAGCCACGCACCGTGTGGGTCCCAAAATTTTATCAAGGCACATTCGTTGCCTCAGCTTCAGGCATCTGCCCAAAAAGGCCAGGACTAAGGCAAGGAGAGGGAGGGATTCCTCAGTACTCAGCTTTTCACAGAGGCTCCAAAAGGCTAAGGAATCCAGTAACGTTTTAACACAATTTTACAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGGCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCTCGGCTAATTTTGTATTTTTAGTACAGAAGGGGCTTCTCTGTTGGTCAGGCTGGTCGTGAACTCTCAACCTCAGGTGAGCCACCCGCCTGAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCTGGCCTTTTTTTTGAGACAGAGTCTCGCTCTCGCCCATGCTGTACTGCAGTGACGCAGTCTGGGCTCACTGTAACCTCCGCTTCCCAGGTTCAAGTGATTCTTCTGCCGCAGCCTCCCATGTAGAGTAGCTGGGATTACAGGCACCCGCCACCATGCCTGGCTAATTCTTGCATTTTTAGTAGAGATGGGGTTTCACAGTGTTGGCCAGGCTGGTCTCAAACTTCTGACCTCAAGTCATCTGCCTGCCTTGGCCCTGCCAAAGTGCTGGGATTATAGATGTGAGCCACCGCGCCTGGCCTACAGTTTATTCTTTGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCAAGGTGGGAGAATGGCTTGAGCCCAGGAGTTCAAGTCCAGCCTGGGCAACATAGCAAGACCCTATCTCTACTACAAAATAAATAATAAATAAACTAATTTTTTTTCTTTTAAAACCCAACTATTCAACATGGCAATGCAATATATTAAAAAAATTTTTTTTTTCTTTGAAACGGAGTCTCTCACTGTCACCCGGGCTGGAGTGCAGTGTCGCCATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTCCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCACCACCATACCCAGCTAATATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGGCAGGCTGGTCTGGAACTCCTGACCTCGTGATCTGCCCGAGGATCGGCGGCCTCCCAAAGTGCTGGGGATTGCAGGCATGAGCCACCGTGCCCAGCCAAAACTTTTTTATTTTTATTTTTTTGGGACACGGTCTCACTGTGTACCCCAGACTGGAGTGATAGAGTGCTGTCATGGCTCACTGCAGCCTCAACCTCCCTGGGCTCAGGTGATCTTCCTGCTTCAGTCTCCCAGGTAGCTGGGACTACAGGCATGAGCCACCACACCCAGCTAATTTTTGAATTTTTTTGTAGAGACAGGGTTTCACCTTGTGGCCCAGACTTGTCTCTAACTCCAGGGCTCAAGCGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTAATGCAATTTAAAAAATTTTTTGGCCAGGCCTGGTGGCTCATGCCTGTATTCACAACACCTTGGGAGGCAAAGGTGGGCAGATCACTTGAGGTCAGGAGT | CCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGCCATGATCTCAGCTCACTGCAAGCTCCACTTCCCAGGCTCACGCCATTCTCCAGCCTCAGCCTCCCAAGTAGCTGAGACTACAGGGGCCCGCCACCACACTCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTTGAACTCCTAACCTCAGGCGATTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGTATGAGCCACCTCGCCTGGTGTGAGCCACCTCGCCCAGCCTGAGCCACCTCACCCAGCCTAAGCCACTGTGCCTGGCCTGATTTTGGACTTTTTAAAAATTTTATTAATAATTATTTTTGGGTTTCTTTTTTTTGAGACAGGGTCTTACTCTGTCATCCAGGCCATCCTGTCTGTCTGTCATCCCAGTGATGGGATCATACCTTGCTGCAGCCTCTACCTCCTGGGCTCAAGCGATCCTCCCCCCTCAGCCTCCTGAGTAGCTGGGAGTACAGGTGTGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTTTGTATATAGAGATGGTATTTTGCCATGTTGACCAGGCTAGTCTTAAACTCCTGGACTCACTCAAGAGATCCTCCTGCCTTGGCCTCCCAAGGTCATTTGAGACTTTCGTCATTAGGCGCACACCTATGAGAAGGGCCTGCAGGCACGTGGCACTCAGAAGACGTTTATTTATTCTTTCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCAAGGTAAAGACTGGGCCCTCCCTAGGCCCCTCTTCACCCAGAGACGGGTCCCTTCAGTGGCCACGAACATTTTGGTCACGAGATGGAGTCCAGGTGTCGTCCTCACTCCCTTGCTGACCTTCTCTCACTTGGGCCGTGTGTCTCTGGGCCCTCAGTTTCCCTATCTGTAAAGTGGGTCTAATAACAGTTCTTGCCCTCTTTGCAAGGATTAAATGGGCCAAATCATATGAGGGGCCAGGTCCTTCAGGCTCCTGGTTCCCAAAGTCAGCCACGCACCGTGTGGGTCCCAAAATTTTATCAAGGCACATTCGTTGCCTCAGCTTCAGGCATCTGCCCAAAAAGGCCAGGACTAAGGCAAGGAGAGGGAGGGATTCCTCAGTACTCAGCTTTTCACAGAGGCTCCAAAAGGCTAAGGAATCCAGTAACGTTTTAACACAATTTTACAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGGCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCTCGGCTAATTTTGTATTTTTAGTACAGAAGGGGCTTCTCTGTTGGTCAGGCTGGTCGTGAACTCTCAACCTCAGGTGAGCCACCCGCCTGAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCTGGCCTTTTTTTTGAGACAGAGTCTCGCTCTCGCCCATGCTGTACTGCAGTGACGCAGTCTGGGCTCACTGTAACCTCCGCTTCCCAGGTTCAAGTGATTCTTCTGCCGCAGCCTCCCATGTAGAGTAGCTGGGATTACAGGCACCCGCCACCATGCCTGGCTAATTCTTGCATTTTTAGTAGAGATGGGGTTTCACAGTGTTGGCCAGGCTGGTCTCAAACTTCTGACCTCAAGTCATCTGCCTGCCTTGGCCCTGCCAAAGTGCTGGGATTATAGATGTGAGCCACCGCGCCTGGCCTACAGTTTATTCTTTGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCAAGGTGGGAGAATGGCTTGAGCCCAGGAGTTCAAGTCCAGCCTGGGCAACATAGCAAGACCCTATCTCTACTACAAAATAAATAATAAATAAACTAATTTTTTTTCTTTTAAAACCCAACTATTCAACATGGCAATGCAATATATTAAAAAAATTTTTTTTTTCTTTGAAACGGAGTCTCTCACTGTCACCCGGGCTGGAGTGCAGTGTCGCCATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTCCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCACCACCATACCCAGCTAATATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGGCAGGCTGGTCTGGAACTCCTGACCTCGTGATCTGCCCGAGGATCGGCGGCCTCCCAAAGTGCTGGGGATTGCAGGCATGAGCCACCGTGCCCAGCCAAAACTTTTTTATTTTTATTTTTTTGGGACACGGTCTCACTGTGTACCCCAGACTGGAGTGATAGAGTGCTGTCATGGCTCACTGCAGCCTCAACCTCCCTGGGCTCAGGTGATCTTCCTGCTTCAGTCTCCCAGGTAGCTGGGACTACAGGCATGAGCCACCACACCCAGCTAATTTTTGAATTTTTTTGTAGAGACAGGGTTTCACCTTGTGGCCCAGACTTGTCTCTAACTCCAGGGCTCAAGCGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTAATGCAATTTAAAAAATTTTTTGGCCAGGCCTGGTGGCTCATGCCTGTATTCACAACACCTTGGGAGGCAAAGGTGGGCAGATCACTTGAGGTCAGGAGTNNNNNNNNNNN | pathogenic | 298,712 |
The mutation in gene LDLR (low density lipoprotein receptor) at chromosome 19, position 11123231—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | ACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGCCATGATCTCAGCTCACTGCAAGCTCCACTTCCCAGGCTCACGCCATTCTCCAGCCTCAGCCTCCCAAGTAGCTGAGACTACAGGGGCCCGCCACCACACTCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTTGAACTCCTAACCTCAGGCGATTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGTATGAGCCACCTCGCCTGGTGTGAGCCACCTCGCCCAGCCTGAGCCACCTCACCCAGCCTAAGCCACTGTGCCTGGCCTGATTTTGGACTTTTTAAAAATTTTATTAATAATTATTTTTGGGTTTCTTTTTTTTGAGACAGGGTCTTACTCTGTCATCCAGGCCATCCTGTCTGTCTGTCATCCCAGTGATGGGATCATACCTTGCTGCAGCCTCTACCTCCTGGGCTCAAGCGATCCTCCCCCCTCAGCCTCCTGAGTAGCTGGGAGTACAGGTGTGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTTTGTATATAGAGATGGTATTTTGCCATGTTGACCAGGCTAGTCTTAAACTCCTGGACTCACTCAAGAGATCCTCCTGCCTTGGCCTCCCAAGGTCATTTGAGACTTTCGTCATTAGGCGCACACCTATGAGAAGGGCCTGCAGGCACGTGGCACTCAGAAGACGTTTATTTATTCTTTCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCAAGGTAAAGACTGGGCCCTCCCTAGGCCCCTCTTCACCCAGAGACGGGTCCCTTCAGTGGCCACGAACATTTTGGTCACGAGATGGAGTCCAGGTGTCGTCCTCACTCCCTTGCTGACCTTCTCTCACTTGGGCCGTGTGTCTCTGGGCCCTCAGTTTCCCTATCTGTAAAGTGGGTCTAATAACAGTTCTTGCCCTCTTTGCAAGGATTAAATGGGCCAAATCATATGAGGGGCCAGGTCCTTCAGGCTCCTGGTTCCCAAAGTCAGCCACGCACCGTGTGGGTCCCAAAATTTTATCAAGGCACATTCGTTGCCTCAGCTTCAGGCATCTGCCCAAAAAGGCCAGGACTAAGGCAAGGAGAGGGAGGGATTCCTCAGTACTCAGCTTTTCACAGAGGCTCCAAAAGGCTAAGGAATCCAGTAACGTTTTAACACAATTTTACAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGGCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCTCGGCTAATTTTGTATTTTTAGTACAGAAGGGGCTTCTCTGTTGGTCAGGCTGGTCGTGAACTCTCAACCTCAGGTGAGCCACCCGCCTGAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCTGGCCTTTTTTTTGAGACAGAGTCTCGCTCTCGCCCATGCTGTACTGCAGTGACGCAGTCTGGGCTCACTGTAACCTCCGCTTCCCAGGTTCAAGTGATTCTTCTGCCGCAGCCTCCCATGTAGAGTAGCTGGGATTACAGGCACCCGCCACCATGCCTGGCTAATTCTTGCATTTTTAGTAGAGATGGGGTTTCACAGTGTTGGCCAGGCTGGTCTCAAACTTCTGACCTCAAGTCATCTGCCTGCCTTGGCCCTGCCAAAGTGCTGGGATTATAGATGTGAGCCACCGCGCCTGGCCTACAGTTTATTCTTTGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCAAGGTGGGAGAATGGCTTGAGCCCAGGAGTTCAAGTCCAGCCTGGGCAACATAGCAAGACCCTATCTCTACTACAAAATAAATAATAAATAAACTAATTTTTTTTCTTTTAAAACCCAACTATTCAACATGGCAATGCAATATATTAAAAAAATTTTTTTTTTCTTTGAAACGGAGTCTCTCACTGTCACCCGGGCTGGAGTGCAGTGTCGCCATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTCCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCACCACCATACCCAGCTAATATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGGCAGGCTGGTCTGGAACTCCTGACCTCGTGATCTGCCCGAGGATCGGCGGCCTCCCAAAGTGCTGGGGATTGCAGGCATGAGCCACCGTGCCCAGCCAAAACTTTTTTATTTTTATTTTTTTGGGACACGGTCTCACTGTGTACCCCAGACTGGAGTGATAGAGTGCTGTCATGGCTCACTGCAGCCTCAACCTCCCTGGGCTCAGGTGATCTTCCTGCTTCAGTCTCCCAGGTAGCTGGGACTACAGGCATGAGCCACCACACCCAGCTAATTTTTGAATTTTTTTGTAGAGACAGGGTTTCACCTTGTGGCCCAGACTTGTCTCTAACTCCAGGGCTCAAGCGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTAATGCAATTTAAAAAATTTTTTGGCCAGGCCTGGTGGCTCATGCCTGTATTCACAACACCTTGGGAGGCAAAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACTAGCCTGG | ACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGCCATGATCTCAGCTCACTGCAAGCTCCACTTCCCAGGCTCACGCCATTCTCCAGCCTCAGCCTCCCAAGTAGCTGAGACTACAGGGGCCCGCCACCACACTCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTTGAACTCCTAACCTCAGGCGATTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGTATGAGCCACCTCGCCTGGTGTGAGCCACCTCGCCCAGCCTGAGCCACCTCACCCAGCCTAAGCCACTGTGCCTGGCCTGATTTTGGACTTTTTAAAAATTTTATTAATAATTATTTTTGGGTTTCTTTTTTTTGAGACAGGGTCTTACTCTGTCATCCAGGCCATCCTGTCTGTCTGTCATCCCAGTGATGGGATCATACCTTGCTGCAGCCTCTACCTCCTGGGCTCAAGCGATCCTCCCCCCTCAGCCTCCTGAGTAGCTGGGAGTACAGGTGTGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTTTGTATATAGAGATGGTATTTTGCCATGTTGACCAGGCTAGTCTTAAACTCCTGGACTCACTCAAGAGATCCTCCTGCCTTGGCCTCCCAAGGTCATTTGAGACTTTCGTCATTAGGCGCACACCTATGAGAAGGGCCTGCAGGCACGTGGCACTCAGAAGACGTTTATTTATTCTTTCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCAAGGTAAAGACTGGGCCCTCCCTAGGCCCCTCTTCACCCAGAGACGGGTCCCTTCAGTGGCCACGAACATTTTGGTCACGAGATGGAGTCCAGGTGTCGTCCTCACTCCCTTGCTGACCTTCTCTCACTTGGGCCGTGTGTCTCTGGGCCCTCAGTTTCCCTATCTGTAAAGTGGGTCTAATAACAGTTCTTGCCCTCTTTGCAAGGATTAAATGGGCCAAATCATATGAGGGGCCAGGTCCTTCAGGCTCCTGGTTCCCAAAGTCAGCCACGCACCGTGTGGGTCCCAAAATTTTATCAAGGCACATTCGTTGCCTCAGCTTCAGGCATCTGCCCAAAAAGGCCAGGACTAAGGCAAGGAGAGGGAGGGATTCCTCAGTACTCAGCTTTTCACAGAGGCTCCAAAAGGCTAAGGAATCCAGTAACGTTTTAACACAATTTTACAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGGCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCTCGGCTAATTTTGTATTTTTAGTACAGAAGGGGCTTCTCTGTTGGTCAGGCTGGTCGTGAACTCTCAACCTCAGGTGAGCCACCCGCCTGAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCTGGCCTTTTTTTTGAGACAGAGTCTCGCTCTCGCCCATGCTGTACTGCAGTGACGCAGTCTGGGCTCACTGTAACCTCCGCTTCCCAGGTTCAAGTGATTCTTCTGCCGCAGCCTCCCATGTAGAGTAGCTGGGATTACAGGCACCCGCCACCATGCCTGGCTAATTCTTGCATTTTTAGTAGAGATGGGGTTTCACAGTGTTGGCCAGGCTGGTCTCAAACTTCTGACCTCAAGTCATCTGCCTGCCTTGGCCCTGCCAAAGTGCTGGGATTATAGATGTGAGCCACCGCGCCTGGCCTACAGTTTATTCTTTGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCAAGGTGGGAGAATGGCTTGAGCCCAGGAGTTCAAGTCCAGCCTGGGCAACATAGCAAGACCCTATCTCTACTACAAAATAAATAATAAATAAACTAATTTTTTTTCTTTTAAAACCCAACTATTCAACATGGCAATGCAATATATTAAAAAAATTTTTTTTTTCTTTGAAACGGAGTCTCTCACTGTCACCCGGGCTGGAGTGCAGTGTCGCCATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTCCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCACCACCATACCCAGCTAATATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGGCAGGCTGGTCTGGAACTCCTGACCTCGTGATCTGCCCGAGGATCGGCGGCCTCCCAAAGTGCTGGGGATTGCAGGCATGAGCCACCGTGCCCAGCCAAAACTTTTTTATTTTTATTTTTTTGGGACACGGTCTCACTGTGTACCCCAGACTGGAGTGATAGAGTGCTGTCATGGCTCACTGCAGCCTCAACCTCCCTGGGCTCAGGTGATCTTCCTGCTTCAGTCTCCCAGGTAGCTGGGACTACAGGCATGAGCCACCACACCCAGCTAATTTTTGAATTTTTTTGTAGAGACAGGGTTTCACCTTGTGGCCCAGACTTGTCTCTAACTCCAGGGCTCAAGCGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTAATGCAATTTAAAAAATTTTTTGGCCAGGCCTGGTGGCTCATGCCTGTATTCACAACACCTTGGGAGGCAAAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACTAGCCTGGNN | pathogenic | 298,714 |
Does the variant on chromosome 19 at location 11123239 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', 'Homozygous_familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | CAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGCCATGATCTCAGCTCACTGCAAGCTCCACTTCCCAGGCTCACGCCATTCTCCAGCCTCAGCCTCCCAAGTAGCTGAGACTACAGGGGCCCGCCACCACACTCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTTGAACTCCTAACCTCAGGCGATTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGTATGAGCCACCTCGCCTGGTGTGAGCCACCTCGCCCAGCCTGAGCCACCTCACCCAGCCTAAGCCACTGTGCCTGGCCTGATTTTGGACTTTTTAAAAATTTTATTAATAATTATTTTTGGGTTTCTTTTTTTTGAGACAGGGTCTTACTCTGTCATCCAGGCCATCCTGTCTGTCTGTCATCCCAGTGATGGGATCATACCTTGCTGCAGCCTCTACCTCCTGGGCTCAAGCGATCCTCCCCCCTCAGCCTCCTGAGTAGCTGGGAGTACAGGTGTGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTTTGTATATAGAGATGGTATTTTGCCATGTTGACCAGGCTAGTCTTAAACTCCTGGACTCACTCAAGAGATCCTCCTGCCTTGGCCTCCCAAGGTCATTTGAGACTTTCGTCATTAGGCGCACACCTATGAGAAGGGCCTGCAGGCACGTGGCACTCAGAAGACGTTTATTTATTCTTTCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCAAGGTAAAGACTGGGCCCTCCCTAGGCCCCTCTTCACCCAGAGACGGGTCCCTTCAGTGGCCACGAACATTTTGGTCACGAGATGGAGTCCAGGTGTCGTCCTCACTCCCTTGCTGACCTTCTCTCACTTGGGCCGTGTGTCTCTGGGCCCTCAGTTTCCCTATCTGTAAAGTGGGTCTAATAACAGTTCTTGCCCTCTTTGCAAGGATTAAATGGGCCAAATCATATGAGGGGCCAGGTCCTTCAGGCTCCTGGTTCCCAAAGTCAGCCACGCACCGTGTGGGTCCCAAAATTTTATCAAGGCACATTCGTTGCCTCAGCTTCAGGCATCTGCCCAAAAAGGCCAGGACTAAGGCAAGGAGAGGGAGGGATTCCTCAGTACTCAGCTTTTCACAGAGGCTCCAAAAGGCTAAGGAATCCAGTAACGTTTTAACACAATTTTACAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGGCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCTCGGCTAATTTTGTATTTTTAGTACAGAAGGGGCTTCTCTGTTGGTCAGGCTGGTCGTGAACTCTCAACCTCAGGTGAGCCACCCGCCTGAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCTGGCCTTTTTTTTGAGACAGAGTCTCGCTCTCGCCCATGCTGTACTGCAGTGACGCAGTCTGGGCTCACTGTAACCTCCGCTTCCCAGGTTCAAGTGATTCTTCTGCCGCAGCCTCCCATGTAGAGTAGCTGGGATTACAGGCACCCGCCACCATGCCTGGCTAATTCTTGCATTTTTAGTAGAGATGGGGTTTCACAGTGTTGGCCAGGCTGGTCTCAAACTTCTGACCTCAAGTCATCTGCCTGCCTTGGCCCTGCCAAAGTGCTGGGATTATAGATGTGAGCCACCGCGCCTGGCCTACAGTTTATTCTTTGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCAAGGTGGGAGAATGGCTTGAGCCCAGGAGTTCAAGTCCAGCCTGGGCAACATAGCAAGACCCTATCTCTACTACAAAATAAATAATAAATAAACTAATTTTTTTTCTTTTAAAACCCAACTATTCAACATGGCAATGCAATATATTAAAAAAATTTTTTTTTTCTTTGAAACGGAGTCTCTCACTGTCACCCGGGCTGGAGTGCAGTGTCGCCATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTCCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCACCACCATACCCAGCTAATATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGGCAGGCTGGTCTGGAACTCCTGACCTCGTGATCTGCCCGAGGATCGGCGGCCTCCCAAAGTGCTGGGGATTGCAGGCATGAGCCACCGTGCCCAGCCAAAACTTTTTTATTTTTATTTTTTTGGGACACGGTCTCACTGTGTACCCCAGACTGGAGTGATAGAGTGCTGTCATGGCTCACTGCAGCCTCAACCTCCCTGGGCTCAGGTGATCTTCCTGCTTCAGTCTCCCAGGTAGCTGGGACTACAGGCATGAGCCACCACACCCAGCTAATTTTTGAATTTTTTTGTAGAGACAGGGTTTCACCTTGTGGCCCAGACTTGTCTCTAACTCCAGGGCTCAAGCGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTAATGCAATTTAAAAAATTTTTTGGCCAGGCCTGGTGGCTCATGCCTGTATTCACAACACCTTGGGAGGCAAAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATG | CAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGCCATGATCTCAGCTCACTGCAAGCTCCACTTCCCAGGCTCACGCCATTCTCCAGCCTCAGCCTCCCAAGTAGCTGAGACTACAGGGGCCCGCCACCACACTCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTTGAACTCCTAACCTCAGGCGATTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGTATGAGCCACCTCGCCTGGTGTGAGCCACCTCGCCCAGCCTGAGCCACCTCACCCAGCCTAAGCCACTGTGCCTGGCCTGATTTTGGACTTTTTAAAAATTTTATTAATAATTATTTTTGGGTTTCTTTTTTTTGAGACAGGGTCTTACTCTGTCATCCAGGCCATCCTGTCTGTCTGTCATCCCAGTGATGGGATCATACCTTGCTGCAGCCTCTACCTCCTGGGCTCAAGCGATCCTCCCCCCTCAGCCTCCTGAGTAGCTGGGAGTACAGGTGTGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTTTGTATATAGAGATGGTATTTTGCCATGTTGACCAGGCTAGTCTTAAACTCCTGGACTCACTCAAGAGATCCTCCTGCCTTGGCCTCCCAAGGTCATTTGAGACTTTCGTCATTAGGCGCACACCTATGAGAAGGGCCTGCAGGCACGTGGCACTCAGAAGACGTTTATTTATTCTTTCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCAAGGTAAAGACTGGGCCCTCCCTAGGCCCCTCTTCACCCAGAGACGGGTCCCTTCAGTGGCCACGAACATTTTGGTCACGAGATGGAGTCCAGGTGTCGTCCTCACTCCCTTGCTGACCTTCTCTCACTTGGGCCGTGTGTCTCTGGGCCCTCAGTTTCCCTATCTGTAAAGTGGGTCTAATAACAGTTCTTGCCCTCTTTGCAAGGATTAAATGGGCCAAATCATATGAGGGGCCAGGTCCTTCAGGCTCCTGGTTCCCAAAGTCAGCCACGCACCGTGTGGGTCCCAAAATTTTATCAAGGCACATTCGTTGCCTCAGCTTCAGGCATCTGCCCAAAAAGGCCAGGACTAAGGCAAGGAGAGGGAGGGATTCCTCAGTACTCAGCTTTTCACAGAGGCTCCAAAAGGCTAAGGAATCCAGTAACGTTTTAACACAATTTTACAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGGCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCTCGGCTAATTTTGTATTTTTAGTACAGAAGGGGCTTCTCTGTTGGTCAGGCTGGTCGTGAACTCTCAACCTCAGGTGAGCCACCCGCCTGAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCTGGCCTTTTTTTTGAGACAGAGTCTCGCTCTCGCCCATGCTGTACTGCAGTGACGCAGTCTGGGCTCACTGTAACCTCCGCTTCCCAGGTTCAAGTGATTCTTCTGCCGCAGCCTCCCATGTAGAGTAGCTGGGATTACAGGCACCCGCCACCATGCCTGGCTAATTCTTGCATTTTTAGTAGAGATGGGGTTTCACAGTGTTGGCCAGGCTGGTCTCAAACTTCTGACCTCAAGTCATCTGCCTGCCTTGGCCCTGCCAAAGTGCTGGGATTATAGATGTGAGCCACCGCGCCTGGCCTACAGTTTATTCTTTGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCAAGGTGGGAGAATGGCTTGAGCCCAGGAGTTCAAGTCCAGCCTGGGCAACATAGCAAGACCCTATCTCTACTACAAAATAAATAATAAATAAACTAATTTTTTTTCTTTTAAAACCCAACTATTCAACATGGCAATGCAATATATTAAAAAAATTTTTTTTTTCTTTGAAACGGAGTCTCTCACTGTCACCCGGGCTGGAGTGCAGTGTCGCCATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTCCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCACCACCATACCCAGCTAATATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGGCAGGCTGGTCTGGAACTCCTGACCTCGTGATCTGCCCGAGGATCGGCGGCCTCCCAAAGTGCTGGGGATTGCAGGCATGAGCCACCGTGCCCAGCCAAAACTTTTTTATTTTTATTTTTTTGGGACACGGTCTCACTGTGTACCCCAGACTGGAGTGATAGAGTGCTGTCATGGCTCACTGCAGCCTCAACCTCCCTGGGCTCAGGTGATCTTCCTGCTTCAGTCTCCCAGGTAGCTGGGACTACAGGCATGAGCCACCACACCCAGCTAATTTTTGAATTTTTTTGTAGAGACAGGGTTTCACCTTGTGGCCCAGACTTGTCTCTAACTCCAGGGCTCAAGCGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTAATGCAATTTAAAAAATTTTTTGGCCAGGCCTGGTGGCTCATGCCTGTATTCACAACACCTTGGGAGGCAAAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAACAT | pathogenic | 298,716 |
A genetic alteration at chromosome 19, position 11123265, in gene LDLR (low density lipoprotein receptor)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Cardiovascular_phenotype'] | CACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGCCATGATCTCAGCTCACTGCAAGCTCCACTTCCCAGGCTCACGCCATTCTCCAGCCTCAGCCTCCCAAGTAGCTGAGACTACAGGGGCCCGCCACCACACTCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTTGAACTCCTAACCTCAGGCGATTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGTATGAGCCACCTCGCCTGGTGTGAGCCACCTCGCCCAGCCTGAGCCACCTCACCCAGCCTAAGCCACTGTGCCTGGCCTGATTTTGGACTTTTTAAAAATTTTATTAATAATTATTTTTGGGTTTCTTTTTTTTGAGACAGGGTCTTACTCTGTCATCCAGGCCATCCTGTCTGTCTGTCATCCCAGTGATGGGATCATACCTTGCTGCAGCCTCTACCTCCTGGGCTCAAGCGATCCTCCCCCCTCAGCCTCCTGAGTAGCTGGGAGTACAGGTGTGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTTTGTATATAGAGATGGTATTTTGCCATGTTGACCAGGCTAGTCTTAAACTCCTGGACTCACTCAAGAGATCCTCCTGCCTTGGCCTCCCAAGGTCATTTGAGACTTTCGTCATTAGGCGCACACCTATGAGAAGGGCCTGCAGGCACGTGGCACTCAGAAGACGTTTATTTATTCTTTCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCAAGGTAAAGACTGGGCCCTCCCTAGGCCCCTCTTCACCCAGAGACGGGTCCCTTCAGTGGCCACGAACATTTTGGTCACGAGATGGAGTCCAGGTGTCGTCCTCACTCCCTTGCTGACCTTCTCTCACTTGGGCCGTGTGTCTCTGGGCCCTCAGTTTCCCTATCTGTAAAGTGGGTCTAATAACAGTTCTTGCCCTCTTTGCAAGGATTAAATGGGCCAAATCATATGAGGGGCCAGGTCCTTCAGGCTCCTGGTTCCCAAAGTCAGCCACGCACCGTGTGGGTCCCAAAATTTTATCAAGGCACATTCGTTGCCTCAGCTTCAGGCATCTGCCCAAAAAGGCCAGGACTAAGGCAAGGAGAGGGAGGGATTCCTCAGTACTCAGCTTTTCACAGAGGCTCCAAAAGGCTAAGGAATCCAGTAACGTTTTAACACAATTTTACAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGGCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCTCGGCTAATTTTGTATTTTTAGTACAGAAGGGGCTTCTCTGTTGGTCAGGCTGGTCGTGAACTCTCAACCTCAGGTGAGCCACCCGCCTGAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCTGGCCTTTTTTTTGAGACAGAGTCTCGCTCTCGCCCATGCTGTACTGCAGTGACGCAGTCTGGGCTCACTGTAACCTCCGCTTCCCAGGTTCAAGTGATTCTTCTGCCGCAGCCTCCCATGTAGAGTAGCTGGGATTACAGGCACCCGCCACCATGCCTGGCTAATTCTTGCATTTTTAGTAGAGATGGGGTTTCACAGTGTTGGCCAGGCTGGTCTCAAACTTCTGACCTCAAGTCATCTGCCTGCCTTGGCCCTGCCAAAGTGCTGGGATTATAGATGTGAGCCACCGCGCCTGGCCTACAGTTTATTCTTTGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCAAGGTGGGAGAATGGCTTGAGCCCAGGAGTTCAAGTCCAGCCTGGGCAACATAGCAAGACCCTATCTCTACTACAAAATAAATAATAAATAAACTAATTTTTTTTCTTTTAAAACCCAACTATTCAACATGGCAATGCAATATATTAAAAAAATTTTTTTTTTCTTTGAAACGGAGTCTCTCACTGTCACCCGGGCTGGAGTGCAGTGTCGCCATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTCCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCACCACCATACCCAGCTAATATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGGCAGGCTGGTCTGGAACTCCTGACCTCGTGATCTGCCCGAGGATCGGCGGCCTCCCAAAGTGCTGGGGATTGCAGGCATGAGCCACCGTGCCCAGCCAAAACTTTTTTATTTTTATTTTTTTGGGACACGGTCTCACTGTGTACCCCAGACTGGAGTGATAGAGTGCTGTCATGGCTCACTGCAGCCTCAACCTCCCTGGGCTCAGGTGATCTTCCTGCTTCAGTCTCCCAGGTAGCTGGGACTACAGGCATGAGCCACCACACCCAGCTAATTTTTGAATTTTTTTGTAGAGACAGGGTTTCACCTTGTGGCCCAGACTTGTCTCTAACTCCAGGGCTCAAGCGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTAATGCAATTTAAAAAATTTTTTGGCCAGGCCTGGTGGCTCATGCCTGTATTCACAACACCTTGGGAGGCAAAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCCTGTCTACTAAAAAAA | CACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGCCATGATCTCAGCTCACTGCAAGCTCCACTTCCCAGGCTCACGCCATTCTCCAGCCTCAGCCTCCCAAGTAGCTGAGACTACAGGGGCCCGCCACCACACTCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTTGAACTCCTAACCTCAGGCGATTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGTATGAGCCACCTCGCCTGGTGTGAGCCACCTCGCCCAGCCTGAGCCACCTCACCCAGCCTAAGCCACTGTGCCTGGCCTGATTTTGGACTTTTTAAAAATTTTATTAATAATTATTTTTGGGTTTCTTTTTTTTGAGACAGGGTCTTACTCTGTCATCCAGGCCATCCTGTCTGTCTGTCATCCCAGTGATGGGATCATACCTTGCTGCAGCCTCTACCTCCTGGGCTCAAGCGATCCTCCCCCCTCAGCCTCCTGAGTAGCTGGGAGTACAGGTGTGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTTTGTATATAGAGATGGTATTTTGCCATGTTGACCAGGCTAGTCTTAAACTCCTGGACTCACTCAAGAGATCCTCCTGCCTTGGCCTCCCAAGGTCATTTGAGACTTTCGTCATTAGGCGCACACCTATGAGAAGGGCCTGCAGGCACGTGGCACTCAGAAGACGTTTATTTATTCTTTCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGAAGTGACAATGTCTCACCAAGGTAAAGACTGGGCCCTCCCTAGGCCCCTCTTCACCCAGAGACGGGTCCCTTCAGTGGCCACGAACATTTTGGTCACGAGATGGAGTCCAGGTGTCGTCCTCACTCCCTTGCTGACCTTCTCTCACTTGGGCCGTGTGTCTCTGGGCCCTCAGTTTCCCTATCTGTAAAGTGGGTCTAATAACAGTTCTTGCCCTCTTTGCAAGGATTAAATGGGCCAAATCATATGAGGGGCCAGGTCCTTCAGGCTCCTGGTTCCCAAAGTCAGCCACGCACCGTGTGGGTCCCAAAATTTTATCAAGGCACATTCGTTGCCTCAGCTTCAGGCATCTGCCCAAAAAGGCCAGGACTAAGGCAAGGAGAGGGAGGGATTCCTCAGTACTCAGCTTTTCACAGAGGCTCCAAAAGGCTAAGGAATCCAGTAACGTTTTAACACAATTTTACAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGGCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCTCGGCTAATTTTGTATTTTTAGTACAGAAGGGGCTTCTCTGTTGGTCAGGCTGGTCGTGAACTCTCAACCTCAGGTGAGCCACCCGCCTGAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCTGGCCTTTTTTTTGAGACAGAGTCTCGCTCTCGCCCATGCTGTACTGCAGTGACGCAGTCTGGGCTCACTGTAACCTCCGCTTCCCAGGTTCAAGTGATTCTTCTGCCGCAGCCTCCCATGTAGAGTAGCTGGGATTACAGGCACCCGCCACCATGCCTGGCTAATTCTTGCATTTTTAGTAGAGATGGGGTTTCACAGTGTTGGCCAGGCTGGTCTCAAACTTCTGACCTCAAGTCATCTGCCTGCCTTGGCCCTGCCAAAGTGCTGGGATTATAGATGTGAGCCACCGCGCCTGGCCTACAGTTTATTCTTTGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCAAGGTGGGAGAATGGCTTGAGCCCAGGAGTTCAAGTCCAGCCTGGGCAACATAGCAAGACCCTATCTCTACTACAAAATAAATAATAAATAAACTAATTTTTTTTCTTTTAAAACCCAACTATTCAACATGGCAATGCAATATATTAAAAAAATTTTTTTTTTCTTTGAAACGGAGTCTCTCACTGTCACCCGGGCTGGAGTGCAGTGTCGCCATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTCCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCACCACCATACCCAGCTAATATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGGCAGGCTGGTCTGGAACTCCTGACCTCGTGATCTGCCCGAGGATCGGCGGCCTCCCAAAGTGCTGGGGATTGCAGGCATGAGCCACCGTGCCCAGCCAAAACTTTTTTATTTTTATTTTTTTGGGACACGGTCTCACTGTGTACCCCAGACTGGAGTGATAGAGTGCTGTCATGGCTCACTGCAGCCTCAACCTCCCTGGGCTCAGGTGATCTTCCTGCTTCAGTCTCCCAGGTAGCTGGGACTACAGGCATGAGCCACCACACCCAGCTAATTTTTGAATTTTTTTGTAGAGACAGGGTTTCACCTTGTGGCCCAGACTTGTCTCTAACTCCAGGGCTCAAGCGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTAATGCAATTTAAAAAATTTTTTGGCCAGGCCTGGTGGCTCATGCCTGTATTCACAACACCTTGGGAGGCAAAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCCTGTCTACTAAAAAAANNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN | pathogenic | 298,721 |
Regarding the variant at chromosome 19 and position 11123294, affecting gene LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | GAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGCCATGATCTCAGCTCACTGCAAGCTCCACTTCCCAGGCTCACGCCATTCTCCAGCCTCAGCCTCCCAAGTAGCTGAGACTACAGGGGCCCGCCACCACACTCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTTGAACTCCTAACCTCAGGCGATTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGTATGAGCCACCTCGCCTGGTGTGAGCCACCTCGCCCAGCCTGAGCCACCTCACCCAGCCTAAGCCACTGTGCCTGGCCTGATTTTGGACTTTTTAAAAATTTTATTAATAATTATTTTTGGGTTTCTTTTTTTTGAGACAGGGTCTTACTCTGTCATCCAGGCCATCCTGTCTGTCTGTCATCCCAGTGATGGGATCATACCTTGCTGCAGCCTCTACCTCCTGGGCTCAAGCGATCCTCCCCCCTCAGCCTCCTGAGTAGCTGGGAGTACAGGTGTGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTTTGTATATAGAGATGGTATTTTGCCATGTTGACCAGGCTAGTCTTAAACTCCTGGACTCACTCAAGAGATCCTCCTGCCTTGGCCTCCCAAGGTCATTTGAGACTTTCGTCATTAGGCGCACACCTATGAGAAGGGCCTGCAGGCACGTGGCACTCAGAAGACGTTTATTTATTCTTTCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCAAGGTAAAGACTGGGCCCTCCCTAGGCCCCTCTTCACCCAGAGACGGGTCCCTTCAGTGGCCACGAACATTTTGGTCACGAGATGGAGTCCAGGTGTCGTCCTCACTCCCTTGCTGACCTTCTCTCACTTGGGCCGTGTGTCTCTGGGCCCTCAGTTTCCCTATCTGTAAAGTGGGTCTAATAACAGTTCTTGCCCTCTTTGCAAGGATTAAATGGGCCAAATCATATGAGGGGCCAGGTCCTTCAGGCTCCTGGTTCCCAAAGTCAGCCACGCACCGTGTGGGTCCCAAAATTTTATCAAGGCACATTCGTTGCCTCAGCTTCAGGCATCTGCCCAAAAAGGCCAGGACTAAGGCAAGGAGAGGGAGGGATTCCTCAGTACTCAGCTTTTCACAGAGGCTCCAAAAGGCTAAGGAATCCAGTAACGTTTTAACACAATTTTACAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGGCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCTCGGCTAATTTTGTATTTTTAGTACAGAAGGGGCTTCTCTGTTGGTCAGGCTGGTCGTGAACTCTCAACCTCAGGTGAGCCACCCGCCTGAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCTGGCCTTTTTTTTGAGACAGAGTCTCGCTCTCGCCCATGCTGTACTGCAGTGACGCAGTCTGGGCTCACTGTAACCTCCGCTTCCCAGGTTCAAGTGATTCTTCTGCCGCAGCCTCCCATGTAGAGTAGCTGGGATTACAGGCACCCGCCACCATGCCTGGCTAATTCTTGCATTTTTAGTAGAGATGGGGTTTCACAGTGTTGGCCAGGCTGGTCTCAAACTTCTGACCTCAAGTCATCTGCCTGCCTTGGCCCTGCCAAAGTGCTGGGATTATAGATGTGAGCCACCGCGCCTGGCCTACAGTTTATTCTTTGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCAAGGTGGGAGAATGGCTTGAGCCCAGGAGTTCAAGTCCAGCCTGGGCAACATAGCAAGACCCTATCTCTACTACAAAATAAATAATAAATAAACTAATTTTTTTTCTTTTAAAACCCAACTATTCAACATGGCAATGCAATATATTAAAAAAATTTTTTTTTTCTTTGAAACGGAGTCTCTCACTGTCACCCGGGCTGGAGTGCAGTGTCGCCATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTCCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCACCACCATACCCAGCTAATATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGGCAGGCTGGTCTGGAACTCCTGACCTCGTGATCTGCCCGAGGATCGGCGGCCTCCCAAAGTGCTGGGGATTGCAGGCATGAGCCACCGTGCCCAGCCAAAACTTTTTTATTTTTATTTTTTTGGGACACGGTCTCACTGTGTACCCCAGACTGGAGTGATAGAGTGCTGTCATGGCTCACTGCAGCCTCAACCTCCCTGGGCTCAGGTGATCTTCCTGCTTCAGTCTCCCAGGTAGCTGGGACTACAGGCATGAGCCACCACACCCAGCTAATTTTTGAATTTTTTTGTAGAGACAGGGTTTCACCTTGTGGCCCAGACTTGTCTCTAACTCCAGGGCTCAAGCGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTAATGCAATTTAAAAAATTTTTTGGCCAGGCCTGGTGGCTCATGCCTGTATTCACAACACCTTGGGAGGCAAAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCCTGTCTACTAAAAAAATACAAAAATTACCTGGGCACAGTGGTGGG | GAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGCCATGATCTCAGCTCACTGCAAGCTCCACTTCCCAGGCTCACGCCATTCTCCAGCCTCAGCCTCCCAAGTAGCTGAGACTACAGGGGCCCGCCACCACACTCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTTGAACTCCTAACCTCAGGCGATTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGTATGAGCCACCTCGCCTGGTGTGAGCCACCTCGCCCAGCCTGAGCCACCTCACCCAGCCTAAGCCACTGTGCCTGGCCTGATTTTGGACTTTTTAAAAATTTTATTAATAATTATTTTTGGGTTTCTTTTTTTTGAGACAGGGTCTTACTCTGTCATCCAGGCCATCCTGTCTGTCTGTCATCCCAGTGATGGGATCATACCTTGCTGCAGCCTCTACCTCCTGGGCTCAAGCGATCCTCCCCCCTCAGCCTCCTGAGTAGCTGGGAGTACAGGTGTGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTTTGTATATAGAGATGGTATTTTGCCATGTTGACCAGGCTAGTCTTAAACTCCTGGACTCACTCAAGAGATCCTCCTGCCTTGGCCTCCCAAGGTCATTTGAGACTTTCGTCATTAGGCGCACACCTATGAGAAGGGCCTGCAGGCACGTGGCACTCAGAAGACGTTTATTTATTCTTTCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCAAGGTAAAGACTGGGCCCTCCCTAGGCCCCTCTTCACCCAGAGACGGGTCCCTTCAGTGGCCACGAACATTTTGGTCACGAGATGGAGTCCAGGTGTCGTCCTCACTCCCTTGCTGACCTTCTCTCACTTGGGCCGTGTGTCTCTGGGCCCTCAGTTTCCCTATCTGTAAAGTGGGTCTAATAACAGTTCTTGCCCTCTTTGCAAGGATTAAATGGGCCAAATCATATGAGGGGCCAGGTCCTTCAGGCTCCTGGTTCCCAAAGTCAGCCACGCACCGTGTGGGTCCCAAAATTTTATCAAGGCACATTCGTTGCCTCAGCTTCAGGCATCTGCCCAAAAAGGCCAGGACTAAGGCAAGGAGAGGGAGGGATTCCTCAGTACTCAGCTTTTCACAGAGGCTCCAAAAGGCTAAGGAATCCAGTAACGTTTTAACACAATTTTACAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGGCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCTCGGCTAATTTTGTATTTTTAGTACAGAAGGGGCTTCTCTGTTGGTCAGGCTGGTCGTGAACTCTCAACCTCAGGTGAGCCACCCGCCTGAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCTGGCCTTTTTTTTGAGACAGAGTCTCGCTCTCGCCCATGCTGTACTGCAGTGACGCAGTCTGGGCTCACTGTAACCTCCGCTTCCCAGGTTCAAGTGATTCTTCTGCCGCAGCCTCCCATGTAGAGTAGCTGGGATTACAGGCACCCGCCACCATGCCTGGCTAATTCTTGCATTTTTAGTAGAGATGGGGTTTCACAGTGTTGGCCAGGCTGGTCTCAAACTTCTGACCTCAAGTCATCTGCCTGCCTTGGCCCTGCCAAAGTGCTGGGATTATAGATGTGAGCCACCGCGCCTGGCCTACAGTTTATTCTTTGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCAAGGTGGGAGAATGGCTTGAGCCCAGGAGTTCAAGTCCAGCCTGGGCAACATAGCAAGACCCTATCTCTACTACAAAATAAATAATAAATAAACTAATTTTTTTTCTTTTAAAACCCAACTATTCAACATGGCAATGCAATATATTAAAAAAATTTTTTTTTTCTTTGAAACGGAGTCTCTCACTGTCACCCGGGCTGGAGTGCAGTGTCGCCATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTCCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCACCACCATACCCAGCTAATATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGGCAGGCTGGTCTGGAACTCCTGACCTCGTGATCTGCCCGAGGATCGGCGGCCTCCCAAAGTGCTGGGGATTGCAGGCATGAGCCACCGTGCCCAGCCAAAACTTTTTTATTTTTATTTTTTTGGGACACGGTCTCACTGTGTACCCCAGACTGGAGTGATAGAGTGCTGTCATGGCTCACTGCAGCCTCAACCTCCCTGGGCTCAGGTGATCTTCCTGCTTCAGTCTCCCAGGTAGCTGGGACTACAGGCATGAGCCACCACACCCAGCTAATTTTTGAATTTTTTTGTAGAGACAGGGTTTCACCTTGTGGCCCAGACTTGTCTCTAACTCCAGGGCTCAAGCGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTAATGCAATTTAAAAAATTTTTTGGCCAGGCCTGGTGGCTCATGCCTGTATTCACAACACCTTGGGAGGCAAAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCCTGTCTACTAAAAAAATACAAAAATTACCTGGGCACAGTGGTGGGNNNNNNNNNN | pathogenic | 298,726 |
Is the chromosome 19, position 11123298 variant in LDLR (low density lipoprotein receptor) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | TGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGCCATGATCTCAGCTCACTGCAAGCTCCACTTCCCAGGCTCACGCCATTCTCCAGCCTCAGCCTCCCAAGTAGCTGAGACTACAGGGGCCCGCCACCACACTCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTTGAACTCCTAACCTCAGGCGATTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGTATGAGCCACCTCGCCTGGTGTGAGCCACCTCGCCCAGCCTGAGCCACCTCACCCAGCCTAAGCCACTGTGCCTGGCCTGATTTTGGACTTTTTAAAAATTTTATTAATAATTATTTTTGGGTTTCTTTTTTTTGAGACAGGGTCTTACTCTGTCATCCAGGCCATCCTGTCTGTCTGTCATCCCAGTGATGGGATCATACCTTGCTGCAGCCTCTACCTCCTGGGCTCAAGCGATCCTCCCCCCTCAGCCTCCTGAGTAGCTGGGAGTACAGGTGTGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTTTGTATATAGAGATGGTATTTTGCCATGTTGACCAGGCTAGTCTTAAACTCCTGGACTCACTCAAGAGATCCTCCTGCCTTGGCCTCCCAAGGTCATTTGAGACTTTCGTCATTAGGCGCACACCTATGAGAAGGGCCTGCAGGCACGTGGCACTCAGAAGACGTTTATTTATTCTTTCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCAAGGTAAAGACTGGGCCCTCCCTAGGCCCCTCTTCACCCAGAGACGGGTCCCTTCAGTGGCCACGAACATTTTGGTCACGAGATGGAGTCCAGGTGTCGTCCTCACTCCCTTGCTGACCTTCTCTCACTTGGGCCGTGTGTCTCTGGGCCCTCAGTTTCCCTATCTGTAAAGTGGGTCTAATAACAGTTCTTGCCCTCTTTGCAAGGATTAAATGGGCCAAATCATATGAGGGGCCAGGTCCTTCAGGCTCCTGGTTCCCAAAGTCAGCCACGCACCGTGTGGGTCCCAAAATTTTATCAAGGCACATTCGTTGCCTCAGCTTCAGGCATCTGCCCAAAAAGGCCAGGACTAAGGCAAGGAGAGGGAGGGATTCCTCAGTACTCAGCTTTTCACAGAGGCTCCAAAAGGCTAAGGAATCCAGTAACGTTTTAACACAATTTTACAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGGCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCTCGGCTAATTTTGTATTTTTAGTACAGAAGGGGCTTCTCTGTTGGTCAGGCTGGTCGTGAACTCTCAACCTCAGGTGAGCCACCCGCCTGAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCTGGCCTTTTTTTTGAGACAGAGTCTCGCTCTCGCCCATGCTGTACTGCAGTGACGCAGTCTGGGCTCACTGTAACCTCCGCTTCCCAGGTTCAAGTGATTCTTCTGCCGCAGCCTCCCATGTAGAGTAGCTGGGATTACAGGCACCCGCCACCATGCCTGGCTAATTCTTGCATTTTTAGTAGAGATGGGGTTTCACAGTGTTGGCCAGGCTGGTCTCAAACTTCTGACCTCAAGTCATCTGCCTGCCTTGGCCCTGCCAAAGTGCTGGGATTATAGATGTGAGCCACCGCGCCTGGCCTACAGTTTATTCTTTGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCAAGGTGGGAGAATGGCTTGAGCCCAGGAGTTCAAGTCCAGCCTGGGCAACATAGCAAGACCCTATCTCTACTACAAAATAAATAATAAATAAACTAATTTTTTTTCTTTTAAAACCCAACTATTCAACATGGCAATGCAATATATTAAAAAAATTTTTTTTTTCTTTGAAACGGAGTCTCTCACTGTCACCCGGGCTGGAGTGCAGTGTCGCCATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTCCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCACCACCATACCCAGCTAATATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGGCAGGCTGGTCTGGAACTCCTGACCTCGTGATCTGCCCGAGGATCGGCGGCCTCCCAAAGTGCTGGGGATTGCAGGCATGAGCCACCGTGCCCAGCCAAAACTTTTTTATTTTTATTTTTTTGGGACACGGTCTCACTGTGTACCCCAGACTGGAGTGATAGAGTGCTGTCATGGCTCACTGCAGCCTCAACCTCCCTGGGCTCAGGTGATCTTCCTGCTTCAGTCTCCCAGGTAGCTGGGACTACAGGCATGAGCCACCACACCCAGCTAATTTTTGAATTTTTTTGTAGAGACAGGGTTTCACCTTGTGGCCCAGACTTGTCTCTAACTCCAGGGCTCAAGCGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTAATGCAATTTAAAAAATTTTTTGGCCAGGCCTGGTGGCTCATGCCTGTATTCACAACACCTTGGGAGGCAAAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCCTGTCTACTAAAAAAATACAAAAATTACCTGGGCACAGTGGTGGGTGCC | TGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGCCATGATCTCAGCTCACTGCAAGCTCCACTTCCCAGGCTCACGCCATTCTCCAGCCTCAGCCTCCCAAGTAGCTGAGACTACAGGGGCCCGCCACCACACTCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTTGAACTCCTAACCTCAGGCGATTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGTATGAGCCACCTCGCCTGGTGTGAGCCACCTCGCCCAGCCTGAGCCACCTCACCCAGCCTAAGCCACTGTGCCTGGCCTGATTTTGGACTTTTTAAAAATTTTATTAATAATTATTTTTGGGTTTCTTTTTTTTGAGACAGGGTCTTACTCTGTCATCCAGGCCATCCTGTCTGTCTGTCATCCCAGTGATGGGATCATACCTTGCTGCAGCCTCTACCTCCTGGGCTCAAGCGATCCTCCCCCCTCAGCCTCCTGAGTAGCTGGGAGTACAGGTGTGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTTTGTATATAGAGATGGTATTTTGCCATGTTGACCAGGCTAGTCTTAAACTCCTGGACTCACTCAAGAGATCCTCCTGCCTTGGCCTCCCAAGGTCATTTGAGACTTTCGTCATTAGGCGCACACCTATGAGAAGGGCCTGCAGGCACGTGGCACTCAGAAGACGTTTATTTATTCTTTCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCCCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCAAGGTAAAGACTGGGCCCTCCCTAGGCCCCTCTTCACCCAGAGACGGGTCCCTTCAGTGGCCACGAACATTTTGGTCACGAGATGGAGTCCAGGTGTCGTCCTCACTCCCTTGCTGACCTTCTCTCACTTGGGCCGTGTGTCTCTGGGCCCTCAGTTTCCCTATCTGTAAAGTGGGTCTAATAACAGTTCTTGCCCTCTTTGCAAGGATTAAATGGGCCAAATCATATGAGGGGCCAGGTCCTTCAGGCTCCTGGTTCCCAAAGTCAGCCACGCACCGTGTGGGTCCCAAAATTTTATCAAGGCACATTCGTTGCCTCAGCTTCAGGCATCTGCCCAAAAAGGCCAGGACTAAGGCAAGGAGAGGGAGGGATTCCTCAGTACTCAGCTTTTCACAGAGGCTCCAAAAGGCTAAGGAATCCAGTAACGTTTTAACACAATTTTACAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGGCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCTCGGCTAATTTTGTATTTTTAGTACAGAAGGGGCTTCTCTGTTGGTCAGGCTGGTCGTGAACTCTCAACCTCAGGTGAGCCACCCGCCTGAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCTGGCCTTTTTTTTGAGACAGAGTCTCGCTCTCGCCCATGCTGTACTGCAGTGACGCAGTCTGGGCTCACTGTAACCTCCGCTTCCCAGGTTCAAGTGATTCTTCTGCCGCAGCCTCCCATGTAGAGTAGCTGGGATTACAGGCACCCGCCACCATGCCTGGCTAATTCTTGCATTTTTAGTAGAGATGGGGTTTCACAGTGTTGGCCAGGCTGGTCTCAAACTTCTGACCTCAAGTCATCTGCCTGCCTTGGCCCTGCCAAAGTGCTGGGATTATAGATGTGAGCCACCGCGCCTGGCCTACAGTTTATTCTTTGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCAAGGTGGGAGAATGGCTTGAGCCCAGGAGTTCAAGTCCAGCCTGGGCAACATAGCAAGACCCTATCTCTACTACAAAATAAATAATAAATAAACTAATTTTTTTTCTTTTAAAACCCAACTATTCAACATGGCAATGCAATATATTAAAAAAATTTTTTTTTTCTTTGAAACGGAGTCTCTCACTGTCACCCGGGCTGGAGTGCAGTGTCGCCATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTCCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCACCACCATACCCAGCTAATATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGGCAGGCTGGTCTGGAACTCCTGACCTCGTGATCTGCCCGAGGATCGGCGGCCTCCCAAAGTGCTGGGGATTGCAGGCATGAGCCACCGTGCCCAGCCAAAACTTTTTTATTTTTATTTTTTTGGGACACGGTCTCACTGTGTACCCCAGACTGGAGTGATAGAGTGCTGTCATGGCTCACTGCAGCCTCAACCTCCCTGGGCTCAGGTGATCTTCCTGCTTCAGTCTCCCAGGTAGCTGGGACTACAGGCATGAGCCACCACACCCAGCTAATTTTTGAATTTTTTTGTAGAGACAGGGTTTCACCTTGTGGCCCAGACTTGTCTCTAACTCCAGGGCTCAAGCGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTAATGCAATTTAAAAAATTTTTTGGCCAGGCCTGGTGGCTCATGCCTGTATTCACAACACCTTGGGAGGCAAAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCCTGTCTACTAAAAAAATACAAAAATTACCTGGGCACAGTGGTGGGTGCCN | pathogenic | 298,728 |
Determine whether the variant at chromosome 19, position 11123299, in gene LDLR (low density lipoprotein receptor) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | GTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGCCATGATCTCAGCTCACTGCAAGCTCCACTTCCCAGGCTCACGCCATTCTCCAGCCTCAGCCTCCCAAGTAGCTGAGACTACAGGGGCCCGCCACCACACTCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTTGAACTCCTAACCTCAGGCGATTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGTATGAGCCACCTCGCCTGGTGTGAGCCACCTCGCCCAGCCTGAGCCACCTCACCCAGCCTAAGCCACTGTGCCTGGCCTGATTTTGGACTTTTTAAAAATTTTATTAATAATTATTTTTGGGTTTCTTTTTTTTGAGACAGGGTCTTACTCTGTCATCCAGGCCATCCTGTCTGTCTGTCATCCCAGTGATGGGATCATACCTTGCTGCAGCCTCTACCTCCTGGGCTCAAGCGATCCTCCCCCCTCAGCCTCCTGAGTAGCTGGGAGTACAGGTGTGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTTTGTATATAGAGATGGTATTTTGCCATGTTGACCAGGCTAGTCTTAAACTCCTGGACTCACTCAAGAGATCCTCCTGCCTTGGCCTCCCAAGGTCATTTGAGACTTTCGTCATTAGGCGCACACCTATGAGAAGGGCCTGCAGGCACGTGGCACTCAGAAGACGTTTATTTATTCTTTCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCAAGGTAAAGACTGGGCCCTCCCTAGGCCCCTCTTCACCCAGAGACGGGTCCCTTCAGTGGCCACGAACATTTTGGTCACGAGATGGAGTCCAGGTGTCGTCCTCACTCCCTTGCTGACCTTCTCTCACTTGGGCCGTGTGTCTCTGGGCCCTCAGTTTCCCTATCTGTAAAGTGGGTCTAATAACAGTTCTTGCCCTCTTTGCAAGGATTAAATGGGCCAAATCATATGAGGGGCCAGGTCCTTCAGGCTCCTGGTTCCCAAAGTCAGCCACGCACCGTGTGGGTCCCAAAATTTTATCAAGGCACATTCGTTGCCTCAGCTTCAGGCATCTGCCCAAAAAGGCCAGGACTAAGGCAAGGAGAGGGAGGGATTCCTCAGTACTCAGCTTTTCACAGAGGCTCCAAAAGGCTAAGGAATCCAGTAACGTTTTAACACAATTTTACAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGGCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCTCGGCTAATTTTGTATTTTTAGTACAGAAGGGGCTTCTCTGTTGGTCAGGCTGGTCGTGAACTCTCAACCTCAGGTGAGCCACCCGCCTGAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCTGGCCTTTTTTTTGAGACAGAGTCTCGCTCTCGCCCATGCTGTACTGCAGTGACGCAGTCTGGGCTCACTGTAACCTCCGCTTCCCAGGTTCAAGTGATTCTTCTGCCGCAGCCTCCCATGTAGAGTAGCTGGGATTACAGGCACCCGCCACCATGCCTGGCTAATTCTTGCATTTTTAGTAGAGATGGGGTTTCACAGTGTTGGCCAGGCTGGTCTCAAACTTCTGACCTCAAGTCATCTGCCTGCCTTGGCCCTGCCAAAGTGCTGGGATTATAGATGTGAGCCACCGCGCCTGGCCTACAGTTTATTCTTTGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCAAGGTGGGAGAATGGCTTGAGCCCAGGAGTTCAAGTCCAGCCTGGGCAACATAGCAAGACCCTATCTCTACTACAAAATAAATAATAAATAAACTAATTTTTTTTCTTTTAAAACCCAACTATTCAACATGGCAATGCAATATATTAAAAAAATTTTTTTTTTCTTTGAAACGGAGTCTCTCACTGTCACCCGGGCTGGAGTGCAGTGTCGCCATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTCCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCACCACCATACCCAGCTAATATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGGCAGGCTGGTCTGGAACTCCTGACCTCGTGATCTGCCCGAGGATCGGCGGCCTCCCAAAGTGCTGGGGATTGCAGGCATGAGCCACCGTGCCCAGCCAAAACTTTTTTATTTTTATTTTTTTGGGACACGGTCTCACTGTGTACCCCAGACTGGAGTGATAGAGTGCTGTCATGGCTCACTGCAGCCTCAACCTCCCTGGGCTCAGGTGATCTTCCTGCTTCAGTCTCCCAGGTAGCTGGGACTACAGGCATGAGCCACCACACCCAGCTAATTTTTGAATTTTTTTGTAGAGACAGGGTTTCACCTTGTGGCCCAGACTTGTCTCTAACTCCAGGGCTCAAGCGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTAATGCAATTTAAAAAATTTTTTGGCCAGGCCTGGTGGCTCATGCCTGTATTCACAACACCTTGGGAGGCAAAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCCTGTCTACTAAAAAAATACAAAAATTACCTGGGCACAGTGGTGGGTGCCT | GTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGCCATGATCTCAGCTCACTGCAAGCTCCACTTCCCAGGCTCACGCCATTCTCCAGCCTCAGCCTCCCAAGTAGCTGAGACTACAGGGGCCCGCCACCACACTCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTTGAACTCCTAACCTCAGGCGATTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGTATGAGCCACCTCGCCTGGTGTGAGCCACCTCGCCCAGCCTGAGCCACCTCACCCAGCCTAAGCCACTGTGCCTGGCCTGATTTTGGACTTTTTAAAAATTTTATTAATAATTATTTTTGGGTTTCTTTTTTTTGAGACAGGGTCTTACTCTGTCATCCAGGCCATCCTGTCTGTCTGTCATCCCAGTGATGGGATCATACCTTGCTGCAGCCTCTACCTCCTGGGCTCAAGCGATCCTCCCCCCTCAGCCTCCTGAGTAGCTGGGAGTACAGGTGTGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTTTGTATATAGAGATGGTATTTTGCCATGTTGACCAGGCTAGTCTTAAACTCCTGGACTCACTCAAGAGATCCTCCTGCCTTGGCCTCCCAAGGTCATTTGAGACTTTCGTCATTAGGCGCACACCTATGAGAAGGGCCTGCAGGCACGTGGCACTCAGAAGACGTTTATTTATTCTTTCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCAAGGTAAAGACTGGGCCCTCCCTAGGCCCCTCTTCACCCAGAGACGGGTCCCTTCAGTGGCCACGAACATTTTGGTCACGAGATGGAGTCCAGGTGTCGTCCTCACTCCCTTGCTGACCTTCTCTCACTTGGGCCGTGTGTCTCTGGGCCCTCAGTTTCCCTATCTGTAAAGTGGGTCTAATAACAGTTCTTGCCCTCTTTGCAAGGATTAAATGGGCCAAATCATATGAGGGGCCAGGTCCTTCAGGCTCCTGGTTCCCAAAGTCAGCCACGCACCGTGTGGGTCCCAAAATTTTATCAAGGCACATTCGTTGCCTCAGCTTCAGGCATCTGCCCAAAAAGGCCAGGACTAAGGCAAGGAGAGGGAGGGATTCCTCAGTACTCAGCTTTTCACAGAGGCTCCAAAAGGCTAAGGAATCCAGTAACGTTTTAACACAATTTTACAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGGCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCTCGGCTAATTTTGTATTTTTAGTACAGAAGGGGCTTCTCTGTTGGTCAGGCTGGTCGTGAACTCTCAACCTCAGGTGAGCCACCCGCCTGAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCTGGCCTTTTTTTTGAGACAGAGTCTCGCTCTCGCCCATGCTGTACTGCAGTGACGCAGTCTGGGCTCACTGTAACCTCCGCTTCCCAGGTTCAAGTGATTCTTCTGCCGCAGCCTCCCATGTAGAGTAGCTGGGATTACAGGCACCCGCCACCATGCCTGGCTAATTCTTGCATTTTTAGTAGAGATGGGGTTTCACAGTGTTGGCCAGGCTGGTCTCAAACTTCTGACCTCAAGTCATCTGCCTGCCTTGGCCCTGCCAAAGTGCTGGGATTATAGATGTGAGCCACCGCGCCTGGCCTACAGTTTATTCTTTGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCAAGGTGGGAGAATGGCTTGAGCCCAGGAGTTCAAGTCCAGCCTGGGCAACATAGCAAGACCCTATCTCTACTACAAAATAAATAATAAATAAACTAATTTTTTTTCTTTTAAAACCCAACTATTCAACATGGCAATGCAATATATTAAAAAAATTTTTTTTTTCTTTGAAACGGAGTCTCTCACTGTCACCCGGGCTGGAGTGCAGTGTCGCCATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTCCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCACCACCATACCCAGCTAATATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGGCAGGCTGGTCTGGAACTCCTGACCTCGTGATCTGCCCGAGGATCGGCGGCCTCCCAAAGTGCTGGGGATTGCAGGCATGAGCCACCGTGCCCAGCCAAAACTTTTTTATTTTTATTTTTTTGGGACACGGTCTCACTGTGTACCCCAGACTGGAGTGATAGAGTGCTGTCATGGCTCACTGCAGCCTCAACCTCCCTGGGCTCAGGTGATCTTCCTGCTTCAGTCTCCCAGGTAGCTGGGACTACAGGCATGAGCCACCACACCCAGCTAATTTTTGAATTTTTTTGTAGAGACAGGGTTTCACCTTGTGGCCCAGACTTGTCTCTAACTCCAGGGCTCAAGCGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTAATGCAATTTAAAAAATTTTTTGGCCAGGCCTGGTGGCTCATGCCTGTATTCACAACACCTTGGGAGGCAAAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCCTGTCTACTAAAAAAATACAAAAATTACCTGGGCACAGTGGTGGGTGCCTN | pathogenic | 298,729 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 19, position 11123303, gene LDLR (low density lipoprotein receptor). What disease(s) is it linked to if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | GGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGCCATGATCTCAGCTCACTGCAAGCTCCACTTCCCAGGCTCACGCCATTCTCCAGCCTCAGCCTCCCAAGTAGCTGAGACTACAGGGGCCCGCCACCACACTCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTTGAACTCCTAACCTCAGGCGATTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGTATGAGCCACCTCGCCTGGTGTGAGCCACCTCGCCCAGCCTGAGCCACCTCACCCAGCCTAAGCCACTGTGCCTGGCCTGATTTTGGACTTTTTAAAAATTTTATTAATAATTATTTTTGGGTTTCTTTTTTTTGAGACAGGGTCTTACTCTGTCATCCAGGCCATCCTGTCTGTCTGTCATCCCAGTGATGGGATCATACCTTGCTGCAGCCTCTACCTCCTGGGCTCAAGCGATCCTCCCCCCTCAGCCTCCTGAGTAGCTGGGAGTACAGGTGTGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTTTGTATATAGAGATGGTATTTTGCCATGTTGACCAGGCTAGTCTTAAACTCCTGGACTCACTCAAGAGATCCTCCTGCCTTGGCCTCCCAAGGTCATTTGAGACTTTCGTCATTAGGCGCACACCTATGAGAAGGGCCTGCAGGCACGTGGCACTCAGAAGACGTTTATTTATTCTTTCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCAAGGTAAAGACTGGGCCCTCCCTAGGCCCCTCTTCACCCAGAGACGGGTCCCTTCAGTGGCCACGAACATTTTGGTCACGAGATGGAGTCCAGGTGTCGTCCTCACTCCCTTGCTGACCTTCTCTCACTTGGGCCGTGTGTCTCTGGGCCCTCAGTTTCCCTATCTGTAAAGTGGGTCTAATAACAGTTCTTGCCCTCTTTGCAAGGATTAAATGGGCCAAATCATATGAGGGGCCAGGTCCTTCAGGCTCCTGGTTCCCAAAGTCAGCCACGCACCGTGTGGGTCCCAAAATTTTATCAAGGCACATTCGTTGCCTCAGCTTCAGGCATCTGCCCAAAAAGGCCAGGACTAAGGCAAGGAGAGGGAGGGATTCCTCAGTACTCAGCTTTTCACAGAGGCTCCAAAAGGCTAAGGAATCCAGTAACGTTTTAACACAATTTTACAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGGCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCTCGGCTAATTTTGTATTTTTAGTACAGAAGGGGCTTCTCTGTTGGTCAGGCTGGTCGTGAACTCTCAACCTCAGGTGAGCCACCCGCCTGAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCTGGCCTTTTTTTTGAGACAGAGTCTCGCTCTCGCCCATGCTGTACTGCAGTGACGCAGTCTGGGCTCACTGTAACCTCCGCTTCCCAGGTTCAAGTGATTCTTCTGCCGCAGCCTCCCATGTAGAGTAGCTGGGATTACAGGCACCCGCCACCATGCCTGGCTAATTCTTGCATTTTTAGTAGAGATGGGGTTTCACAGTGTTGGCCAGGCTGGTCTCAAACTTCTGACCTCAAGTCATCTGCCTGCCTTGGCCCTGCCAAAGTGCTGGGATTATAGATGTGAGCCACCGCGCCTGGCCTACAGTTTATTCTTTGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCAAGGTGGGAGAATGGCTTGAGCCCAGGAGTTCAAGTCCAGCCTGGGCAACATAGCAAGACCCTATCTCTACTACAAAATAAATAATAAATAAACTAATTTTTTTTCTTTTAAAACCCAACTATTCAACATGGCAATGCAATATATTAAAAAAATTTTTTTTTTCTTTGAAACGGAGTCTCTCACTGTCACCCGGGCTGGAGTGCAGTGTCGCCATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTCCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCACCACCATACCCAGCTAATATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGGCAGGCTGGTCTGGAACTCCTGACCTCGTGATCTGCCCGAGGATCGGCGGCCTCCCAAAGTGCTGGGGATTGCAGGCATGAGCCACCGTGCCCAGCCAAAACTTTTTTATTTTTATTTTTTTGGGACACGGTCTCACTGTGTACCCCAGACTGGAGTGATAGAGTGCTGTCATGGCTCACTGCAGCCTCAACCTCCCTGGGCTCAGGTGATCTTCCTGCTTCAGTCTCCCAGGTAGCTGGGACTACAGGCATGAGCCACCACACCCAGCTAATTTTTGAATTTTTTTGTAGAGACAGGGTTTCACCTTGTGGCCCAGACTTGTCTCTAACTCCAGGGCTCAAGCGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTAATGCAATTTAAAAAATTTTTTGGCCAGGCCTGGTGGCTCATGCCTGTATTCACAACACCTTGGGAGGCAAAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCCTGTCTACTAAAAAAATACAAAAATTACCTGGGCACAGTGGTGGGTGCCTGTAA | GGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGCCATGATCTCAGCTCACTGCAAGCTCCACTTCCCAGGCTCACGCCATTCTCCAGCCTCAGCCTCCCAAGTAGCTGAGACTACAGGGGCCCGCCACCACACTCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTTGAACTCCTAACCTCAGGCGATTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGTATGAGCCACCTCGCCTGGTGTGAGCCACCTCGCCCAGCCTGAGCCACCTCACCCAGCCTAAGCCACTGTGCCTGGCCTGATTTTGGACTTTTTAAAAATTTTATTAATAATTATTTTTGGGTTTCTTTTTTTTGAGACAGGGTCTTACTCTGTCATCCAGGCCATCCTGTCTGTCTGTCATCCCAGTGATGGGATCATACCTTGCTGCAGCCTCTACCTCCTGGGCTCAAGCGATCCTCCCCCCTCAGCCTCCTGAGTAGCTGGGAGTACAGGTGTGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTTTGTATATAGAGATGGTATTTTGCCATGTTGACCAGGCTAGTCTTAAACTCCTGGACTCACTCAAGAGATCCTCCTGCCTTGGCCTCCCAAGGTCATTTGAGACTTTCGTCATTAGGCGCACACCTATGAGAAGGGCCTGCAGGCACGTGGCACTCAGAAGACGTTTATTTATTCTTTCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCAAGGTAAAGACTGGGCCCTCCCTAGGCCCCTCTTCACCCAGAGACGGGTCCCTTCAGTGGCCACGAACATTTTGGTCACGAGATGGAGTCCAGGTGTCGTCCTCACTCCCTTGCTGACCTTCTCTCACTTGGGCCGTGTGTCTCTGGGCCCTCAGTTTCCCTATCTGTAAAGTGGGTCTAATAACAGTTCTTGCCCTCTTTGCAAGGATTAAATGGGCCAAATCATATGAGGGGCCAGGTCCTTCAGGCTCCTGGTTCCCAAAGTCAGCCACGCACCGTGTGGGTCCCAAAATTTTATCAAGGCACATTCGTTGCCTCAGCTTCAGGCATCTGCCCAAAAAGGCCAGGACTAAGGCAAGGAGAGGGAGGGATTCCTCAGTACTCAGCTTTTCACAGAGGCTCCAAAAGGCTAAGGAATCCAGTAACGTTTTAACACAATTTTACAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGGCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCTCGGCTAATTTTGTATTTTTAGTACAGAAGGGGCTTCTCTGTTGGTCAGGCTGGTCGTGAACTCTCAACCTCAGGTGAGCCACCCGCCTGAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCTGGCCTTTTTTTTGAGACAGAGTCTCGCTCTCGCCCATGCTGTACTGCAGTGACGCAGTCTGGGCTCACTGTAACCTCCGCTTCCCAGGTTCAAGTGATTCTTCTGCCGCAGCCTCCCATGTAGAGTAGCTGGGATTACAGGCACCCGCCACCATGCCTGGCTAATTCTTGCATTTTTAGTAGAGATGGGGTTTCACAGTGTTGGCCAGGCTGGTCTCAAACTTCTGACCTCAAGTCATCTGCCTGCCTTGGCCCTGCCAAAGTGCTGGGATTATAGATGTGAGCCACCGCGCCTGGCCTACAGTTTATTCTTTGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCAAGGTGGGAGAATGGCTTGAGCCCAGGAGTTCAAGTCCAGCCTGGGCAACATAGCAAGACCCTATCTCTACTACAAAATAAATAATAAATAAACTAATTTTTTTTCTTTTAAAACCCAACTATTCAACATGGCAATGCAATATATTAAAAAAATTTTTTTTTTCTTTGAAACGGAGTCTCTCACTGTCACCCGGGCTGGAGTGCAGTGTCGCCATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTCCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCACCACCATACCCAGCTAATATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGGCAGGCTGGTCTGGAACTCCTGACCTCGTGATCTGCCCGAGGATCGGCGGCCTCCCAAAGTGCTGGGGATTGCAGGCATGAGCCACCGTGCCCAGCCAAAACTTTTTTATTTTTATTTTTTTGGGACACGGTCTCACTGTGTACCCCAGACTGGAGTGATAGAGTGCTGTCATGGCTCACTGCAGCCTCAACCTCCCTGGGCTCAGGTGATCTTCCTGCTTCAGTCTCCCAGGTAGCTGGGACTACAGGCATGAGCCACCACACCCAGCTAATTTTTGAATTTTTTTGTAGAGACAGGGTTTCACCTTGTGGCCCAGACTTGTCTCTAACTCCAGGGCTCAAGCGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTAATGCAATTTAAAAAATTTTTTGGCCAGGCCTGGTGGCTCATGCCTGTATTCACAACACCTTGGGAGGCAAAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCCTGTCTACTAAAAAAATACAAAAATTACCTGGGCACAGTGGTGGGTGCCTGTAAN | pathogenic | 298,730 |
Evaluate the clinical significance of the mutation at chromosome 19, position 11123304 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'] | GATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGCCATGATCTCAGCTCACTGCAAGCTCCACTTCCCAGGCTCACGCCATTCTCCAGCCTCAGCCTCCCAAGTAGCTGAGACTACAGGGGCCCGCCACCACACTCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTTGAACTCCTAACCTCAGGCGATTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGTATGAGCCACCTCGCCTGGTGTGAGCCACCTCGCCCAGCCTGAGCCACCTCACCCAGCCTAAGCCACTGTGCCTGGCCTGATTTTGGACTTTTTAAAAATTTTATTAATAATTATTTTTGGGTTTCTTTTTTTTGAGACAGGGTCTTACTCTGTCATCCAGGCCATCCTGTCTGTCTGTCATCCCAGTGATGGGATCATACCTTGCTGCAGCCTCTACCTCCTGGGCTCAAGCGATCCTCCCCCCTCAGCCTCCTGAGTAGCTGGGAGTACAGGTGTGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTTTGTATATAGAGATGGTATTTTGCCATGTTGACCAGGCTAGTCTTAAACTCCTGGACTCACTCAAGAGATCCTCCTGCCTTGGCCTCCCAAGGTCATTTGAGACTTTCGTCATTAGGCGCACACCTATGAGAAGGGCCTGCAGGCACGTGGCACTCAGAAGACGTTTATTTATTCTTTCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCAAGGTAAAGACTGGGCCCTCCCTAGGCCCCTCTTCACCCAGAGACGGGTCCCTTCAGTGGCCACGAACATTTTGGTCACGAGATGGAGTCCAGGTGTCGTCCTCACTCCCTTGCTGACCTTCTCTCACTTGGGCCGTGTGTCTCTGGGCCCTCAGTTTCCCTATCTGTAAAGTGGGTCTAATAACAGTTCTTGCCCTCTTTGCAAGGATTAAATGGGCCAAATCATATGAGGGGCCAGGTCCTTCAGGCTCCTGGTTCCCAAAGTCAGCCACGCACCGTGTGGGTCCCAAAATTTTATCAAGGCACATTCGTTGCCTCAGCTTCAGGCATCTGCCCAAAAAGGCCAGGACTAAGGCAAGGAGAGGGAGGGATTCCTCAGTACTCAGCTTTTCACAGAGGCTCCAAAAGGCTAAGGAATCCAGTAACGTTTTAACACAATTTTACAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGGCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCTCGGCTAATTTTGTATTTTTAGTACAGAAGGGGCTTCTCTGTTGGTCAGGCTGGTCGTGAACTCTCAACCTCAGGTGAGCCACCCGCCTGAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCTGGCCTTTTTTTTGAGACAGAGTCTCGCTCTCGCCCATGCTGTACTGCAGTGACGCAGTCTGGGCTCACTGTAACCTCCGCTTCCCAGGTTCAAGTGATTCTTCTGCCGCAGCCTCCCATGTAGAGTAGCTGGGATTACAGGCACCCGCCACCATGCCTGGCTAATTCTTGCATTTTTAGTAGAGATGGGGTTTCACAGTGTTGGCCAGGCTGGTCTCAAACTTCTGACCTCAAGTCATCTGCCTGCCTTGGCCCTGCCAAAGTGCTGGGATTATAGATGTGAGCCACCGCGCCTGGCCTACAGTTTATTCTTTGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCAAGGTGGGAGAATGGCTTGAGCCCAGGAGTTCAAGTCCAGCCTGGGCAACATAGCAAGACCCTATCTCTACTACAAAATAAATAATAAATAAACTAATTTTTTTTCTTTTAAAACCCAACTATTCAACATGGCAATGCAATATATTAAAAAAATTTTTTTTTTCTTTGAAACGGAGTCTCTCACTGTCACCCGGGCTGGAGTGCAGTGTCGCCATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTCCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCACCACCATACCCAGCTAATATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGGCAGGCTGGTCTGGAACTCCTGACCTCGTGATCTGCCCGAGGATCGGCGGCCTCCCAAAGTGCTGGGGATTGCAGGCATGAGCCACCGTGCCCAGCCAAAACTTTTTTATTTTTATTTTTTTGGGACACGGTCTCACTGTGTACCCCAGACTGGAGTGATAGAGTGCTGTCATGGCTCACTGCAGCCTCAACCTCCCTGGGCTCAGGTGATCTTCCTGCTTCAGTCTCCCAGGTAGCTGGGACTACAGGCATGAGCCACCACACCCAGCTAATTTTTGAATTTTTTTGTAGAGACAGGGTTTCACCTTGTGGCCCAGACTTGTCTCTAACTCCAGGGCTCAAGCGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTAATGCAATTTAAAAAATTTTTTGGCCAGGCCTGGTGGCTCATGCCTGTATTCACAACACCTTGGGAGGCAAAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCCTGTCTACTAAAAAAATACAAAAATTACCTGGGCACAGTGGTGGGTGCCTGTAAT | GATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGCCATGATCTCAGCTCACTGCAAGCTCCACTTCCCAGGCTCACGCCATTCTCCAGCCTCAGCCTCCCAAGTAGCTGAGACTACAGGGGCCCGCCACCACACTCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTTGAACTCCTAACCTCAGGCGATTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGTATGAGCCACCTCGCCTGGTGTGAGCCACCTCGCCCAGCCTGAGCCACCTCACCCAGCCTAAGCCACTGTGCCTGGCCTGATTTTGGACTTTTTAAAAATTTTATTAATAATTATTTTTGGGTTTCTTTTTTTTGAGACAGGGTCTTACTCTGTCATCCAGGCCATCCTGTCTGTCTGTCATCCCAGTGATGGGATCATACCTTGCTGCAGCCTCTACCTCCTGGGCTCAAGCGATCCTCCCCCCTCAGCCTCCTGAGTAGCTGGGAGTACAGGTGTGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTTTGTATATAGAGATGGTATTTTGCCATGTTGACCAGGCTAGTCTTAAACTCCTGGACTCACTCAAGAGATCCTCCTGCCTTGGCCTCCCAAGGTCATTTGAGACTTTCGTCATTAGGCGCACACCTATGAGAAGGGCCTGCAGGCACGTGGCACTCAGAAGACGTTTATTTATTCTTTCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCAAGGTAAAGACTGGGCCCTCCCTAGGCCCCTCTTCACCCAGAGACGGGTCCCTTCAGTGGCCACGAACATTTTGGTCACGAGATGGAGTCCAGGTGTCGTCCTCACTCCCTTGCTGACCTTCTCTCACTTGGGCCGTGTGTCTCTGGGCCCTCAGTTTCCCTATCTGTAAAGTGGGTCTAATAACAGTTCTTGCCCTCTTTGCAAGGATTAAATGGGCCAAATCATATGAGGGGCCAGGTCCTTCAGGCTCCTGGTTCCCAAAGTCAGCCACGCACCGTGTGGGTCCCAAAATTTTATCAAGGCACATTCGTTGCCTCAGCTTCAGGCATCTGCCCAAAAAGGCCAGGACTAAGGCAAGGAGAGGGAGGGATTCCTCAGTACTCAGCTTTTCACAGAGGCTCCAAAAGGCTAAGGAATCCAGTAACGTTTTAACACAATTTTACAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGGCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCTCGGCTAATTTTGTATTTTTAGTACAGAAGGGGCTTCTCTGTTGGTCAGGCTGGTCGTGAACTCTCAACCTCAGGTGAGCCACCCGCCTGAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCTGGCCTTTTTTTTGAGACAGAGTCTCGCTCTCGCCCATGCTGTACTGCAGTGACGCAGTCTGGGCTCACTGTAACCTCCGCTTCCCAGGTTCAAGTGATTCTTCTGCCGCAGCCTCCCATGTAGAGTAGCTGGGATTACAGGCACCCGCCACCATGCCTGGCTAATTCTTGCATTTTTAGTAGAGATGGGGTTTCACAGTGTTGGCCAGGCTGGTCTCAAACTTCTGACCTCAAGTCATCTGCCTGCCTTGGCCCTGCCAAAGTGCTGGGATTATAGATGTGAGCCACCGCGCCTGGCCTACAGTTTATTCTTTGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCAAGGTGGGAGAATGGCTTGAGCCCAGGAGTTCAAGTCCAGCCTGGGCAACATAGCAAGACCCTATCTCTACTACAAAATAAATAATAAATAAACTAATTTTTTTTCTTTTAAAACCCAACTATTCAACATGGCAATGCAATATATTAAAAAAATTTTTTTTTTCTTTGAAACGGAGTCTCTCACTGTCACCCGGGCTGGAGTGCAGTGTCGCCATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTCCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCACCACCATACCCAGCTAATATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGGCAGGCTGGTCTGGAACTCCTGACCTCGTGATCTGCCCGAGGATCGGCGGCCTCCCAAAGTGCTGGGGATTGCAGGCATGAGCCACCGTGCCCAGCCAAAACTTTTTTATTTTTATTTTTTTGGGACACGGTCTCACTGTGTACCCCAGACTGGAGTGATAGAGTGCTGTCATGGCTCACTGCAGCCTCAACCTCCCTGGGCTCAGGTGATCTTCCTGCTTCAGTCTCCCAGGTAGCTGGGACTACAGGCATGAGCCACCACACCCAGCTAATTTTTGAATTTTTTTGTAGAGACAGGGTTTCACCTTGTGGCCCAGACTTGTCTCTAACTCCAGGGCTCAAGCGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTAATGCAATTTAAAAAATTTTTTGGCCAGGCCTGGTGGCTCATGCCTGTATTCACAACACCTTGGGAGGCAAAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCCTGTCTACTAAAAAAATACAAAAATTACCTGGGCACAGTGGTGGGTGCCTGTAATN | pathogenic | 298,731 |
Evaluate this variant at chromosome 19, position 11123324, gene LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | TCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGCCATGATCTCAGCTCACTGCAAGCTCCACTTCCCAGGCTCACGCCATTCTCCAGCCTCAGCCTCCCAAGTAGCTGAGACTACAGGGGCCCGCCACCACACTCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTTGAACTCCTAACCTCAGGCGATTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGTATGAGCCACCTCGCCTGGTGTGAGCCACCTCGCCCAGCCTGAGCCACCTCACCCAGCCTAAGCCACTGTGCCTGGCCTGATTTTGGACTTTTTAAAAATTTTATTAATAATTATTTTTGGGTTTCTTTTTTTTGAGACAGGGTCTTACTCTGTCATCCAGGCCATCCTGTCTGTCTGTCATCCCAGTGATGGGATCATACCTTGCTGCAGCCTCTACCTCCTGGGCTCAAGCGATCCTCCCCCCTCAGCCTCCTGAGTAGCTGGGAGTACAGGTGTGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTTTGTATATAGAGATGGTATTTTGCCATGTTGACCAGGCTAGTCTTAAACTCCTGGACTCACTCAAGAGATCCTCCTGCCTTGGCCTCCCAAGGTCATTTGAGACTTTCGTCATTAGGCGCACACCTATGAGAAGGGCCTGCAGGCACGTGGCACTCAGAAGACGTTTATTTATTCTTTCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCAAGGTAAAGACTGGGCCCTCCCTAGGCCCCTCTTCACCCAGAGACGGGTCCCTTCAGTGGCCACGAACATTTTGGTCACGAGATGGAGTCCAGGTGTCGTCCTCACTCCCTTGCTGACCTTCTCTCACTTGGGCCGTGTGTCTCTGGGCCCTCAGTTTCCCTATCTGTAAAGTGGGTCTAATAACAGTTCTTGCCCTCTTTGCAAGGATTAAATGGGCCAAATCATATGAGGGGCCAGGTCCTTCAGGCTCCTGGTTCCCAAAGTCAGCCACGCACCGTGTGGGTCCCAAAATTTTATCAAGGCACATTCGTTGCCTCAGCTTCAGGCATCTGCCCAAAAAGGCCAGGACTAAGGCAAGGAGAGGGAGGGATTCCTCAGTACTCAGCTTTTCACAGAGGCTCCAAAAGGCTAAGGAATCCAGTAACGTTTTAACACAATTTTACAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGGCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCTCGGCTAATTTTGTATTTTTAGTACAGAAGGGGCTTCTCTGTTGGTCAGGCTGGTCGTGAACTCTCAACCTCAGGTGAGCCACCCGCCTGAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCTGGCCTTTTTTTTGAGACAGAGTCTCGCTCTCGCCCATGCTGTACTGCAGTGACGCAGTCTGGGCTCACTGTAACCTCCGCTTCCCAGGTTCAAGTGATTCTTCTGCCGCAGCCTCCCATGTAGAGTAGCTGGGATTACAGGCACCCGCCACCATGCCTGGCTAATTCTTGCATTTTTAGTAGAGATGGGGTTTCACAGTGTTGGCCAGGCTGGTCTCAAACTTCTGACCTCAAGTCATCTGCCTGCCTTGGCCCTGCCAAAGTGCTGGGATTATAGATGTGAGCCACCGCGCCTGGCCTACAGTTTATTCTTTGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCAAGGTGGGAGAATGGCTTGAGCCCAGGAGTTCAAGTCCAGCCTGGGCAACATAGCAAGACCCTATCTCTACTACAAAATAAATAATAAATAAACTAATTTTTTTTCTTTTAAAACCCAACTATTCAACATGGCAATGCAATATATTAAAAAAATTTTTTTTTTCTTTGAAACGGAGTCTCTCACTGTCACCCGGGCTGGAGTGCAGTGTCGCCATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTCCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCACCACCATACCCAGCTAATATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGGCAGGCTGGTCTGGAACTCCTGACCTCGTGATCTGCCCGAGGATCGGCGGCCTCCCAAAGTGCTGGGGATTGCAGGCATGAGCCACCGTGCCCAGCCAAAACTTTTTTATTTTTATTTTTTTGGGACACGGTCTCACTGTGTACCCCAGACTGGAGTGATAGAGTGCTGTCATGGCTCACTGCAGCCTCAACCTCCCTGGGCTCAGGTGATCTTCCTGCTTCAGTCTCCCAGGTAGCTGGGACTACAGGCATGAGCCACCACACCCAGCTAATTTTTGAATTTTTTTGTAGAGACAGGGTTTCACCTTGTGGCCCAGACTTGTCTCTAACTCCAGGGCTCAAGCGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTAATGCAATTTAAAAAATTTTTTGGCCAGGCCTGGTGGCTCATGCCTGTATTCACAACACCTTGGGAGGCAAAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCCTGTCTACTAAAAAAATACAAAAATTACCTGGGCACAGTGGTGGGTGCCTGTAATCCCAGCTACTTGGGATGCTG | TCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGCCATGATCTCAGCTCACTGCAAGCTCCACTTCCCAGGCTCACGCCATTCTCCAGCCTCAGCCTCCCAAGTAGCTGAGACTACAGGGGCCCGCCACCACACTCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTTGAACTCCTAACCTCAGGCGATTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGTATGAGCCACCTCGCCTGGTGTGAGCCACCTCGCCCAGCCTGAGCCACCTCACCCAGCCTAAGCCACTGTGCCTGGCCTGATTTTGGACTTTTTAAAAATTTTATTAATAATTATTTTTGGGTTTCTTTTTTTTGAGACAGGGTCTTACTCTGTCATCCAGGCCATCCTGTCTGTCTGTCATCCCAGTGATGGGATCATACCTTGCTGCAGCCTCTACCTCCTGGGCTCAAGCGATCCTCCCCCCTCAGCCTCCTGAGTAGCTGGGAGTACAGGTGTGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTTTGTATATAGAGATGGTATTTTGCCATGTTGACCAGGCTAGTCTTAAACTCCTGGACTCACTCAAGAGATCCTCCTGCCTTGGCCTCCCAAGGTCATTTGAGACTTTCGTCATTAGGCGCACACCTATGAGAAGGGCCTGCAGGCACGTGGCACTCAGAAGACGTTTATTTATTCTTTCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATGTGACAATGTCTCACCAAGGTAAAGACTGGGCCCTCCCTAGGCCCCTCTTCACCCAGAGACGGGTCCCTTCAGTGGCCACGAACATTTTGGTCACGAGATGGAGTCCAGGTGTCGTCCTCACTCCCTTGCTGACCTTCTCTCACTTGGGCCGTGTGTCTCTGGGCCCTCAGTTTCCCTATCTGTAAAGTGGGTCTAATAACAGTTCTTGCCCTCTTTGCAAGGATTAAATGGGCCAAATCATATGAGGGGCCAGGTCCTTCAGGCTCCTGGTTCCCAAAGTCAGCCACGCACCGTGTGGGTCCCAAAATTTTATCAAGGCACATTCGTTGCCTCAGCTTCAGGCATCTGCCCAAAAAGGCCAGGACTAAGGCAAGGAGAGGGAGGGATTCCTCAGTACTCAGCTTTTCACAGAGGCTCCAAAAGGCTAAGGAATCCAGTAACGTTTTAACACAATTTTACAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGGCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCTCGGCTAATTTTGTATTTTTAGTACAGAAGGGGCTTCTCTGTTGGTCAGGCTGGTCGTGAACTCTCAACCTCAGGTGAGCCACCCGCCTGAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCTGGCCTTTTTTTTGAGACAGAGTCTCGCTCTCGCCCATGCTGTACTGCAGTGACGCAGTCTGGGCTCACTGTAACCTCCGCTTCCCAGGTTCAAGTGATTCTTCTGCCGCAGCCTCCCATGTAGAGTAGCTGGGATTACAGGCACCCGCCACCATGCCTGGCTAATTCTTGCATTTTTAGTAGAGATGGGGTTTCACAGTGTTGGCCAGGCTGGTCTCAAACTTCTGACCTCAAGTCATCTGCCTGCCTTGGCCCTGCCAAAGTGCTGGGATTATAGATGTGAGCCACCGCGCCTGGCCTACAGTTTATTCTTTGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCAAGGTGGGAGAATGGCTTGAGCCCAGGAGTTCAAGTCCAGCCTGGGCAACATAGCAAGACCCTATCTCTACTACAAAATAAATAATAAATAAACTAATTTTTTTTCTTTTAAAACCCAACTATTCAACATGGCAATGCAATATATTAAAAAAATTTTTTTTTTCTTTGAAACGGAGTCTCTCACTGTCACCCGGGCTGGAGTGCAGTGTCGCCATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTCCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCACCACCATACCCAGCTAATATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGGCAGGCTGGTCTGGAACTCCTGACCTCGTGATCTGCCCGAGGATCGGCGGCCTCCCAAAGTGCTGGGGATTGCAGGCATGAGCCACCGTGCCCAGCCAAAACTTTTTTATTTTTATTTTTTTGGGACACGGTCTCACTGTGTACCCCAGACTGGAGTGATAGAGTGCTGTCATGGCTCACTGCAGCCTCAACCTCCCTGGGCTCAGGTGATCTTCCTGCTTCAGTCTCCCAGGTAGCTGGGACTACAGGCATGAGCCACCACACCCAGCTAATTTTTGAATTTTTTTGTAGAGACAGGGTTTCACCTTGTGGCCCAGACTTGTCTCTAACTCCAGGGCTCAAGCGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTAATGCAATTTAAAAAATTTTTTGGCCAGGCCTGGTGGCTCATGCCTGTATTCACAACACCTTGGGAGGCAAAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCCTGTCTACTAAAAAAATACAAAAATTACCTGGGCACAGTGGTGGGTGCCTGTAATCCCAGCTACTTGGGATGCTGN | pathogenic | 298,735 |
Clinical significance of chromosome 19, position 11123325, gene LDLR (low density lipoprotein receptor): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | CAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGCCATGATCTCAGCTCACTGCAAGCTCCACTTCCCAGGCTCACGCCATTCTCCAGCCTCAGCCTCCCAAGTAGCTGAGACTACAGGGGCCCGCCACCACACTCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTTGAACTCCTAACCTCAGGCGATTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGTATGAGCCACCTCGCCTGGTGTGAGCCACCTCGCCCAGCCTGAGCCACCTCACCCAGCCTAAGCCACTGTGCCTGGCCTGATTTTGGACTTTTTAAAAATTTTATTAATAATTATTTTTGGGTTTCTTTTTTTTGAGACAGGGTCTTACTCTGTCATCCAGGCCATCCTGTCTGTCTGTCATCCCAGTGATGGGATCATACCTTGCTGCAGCCTCTACCTCCTGGGCTCAAGCGATCCTCCCCCCTCAGCCTCCTGAGTAGCTGGGAGTACAGGTGTGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTTTGTATATAGAGATGGTATTTTGCCATGTTGACCAGGCTAGTCTTAAACTCCTGGACTCACTCAAGAGATCCTCCTGCCTTGGCCTCCCAAGGTCATTTGAGACTTTCGTCATTAGGCGCACACCTATGAGAAGGGCCTGCAGGCACGTGGCACTCAGAAGACGTTTATTTATTCTTTCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCAAGGTAAAGACTGGGCCCTCCCTAGGCCCCTCTTCACCCAGAGACGGGTCCCTTCAGTGGCCACGAACATTTTGGTCACGAGATGGAGTCCAGGTGTCGTCCTCACTCCCTTGCTGACCTTCTCTCACTTGGGCCGTGTGTCTCTGGGCCCTCAGTTTCCCTATCTGTAAAGTGGGTCTAATAACAGTTCTTGCCCTCTTTGCAAGGATTAAATGGGCCAAATCATATGAGGGGCCAGGTCCTTCAGGCTCCTGGTTCCCAAAGTCAGCCACGCACCGTGTGGGTCCCAAAATTTTATCAAGGCACATTCGTTGCCTCAGCTTCAGGCATCTGCCCAAAAAGGCCAGGACTAAGGCAAGGAGAGGGAGGGATTCCTCAGTACTCAGCTTTTCACAGAGGCTCCAAAAGGCTAAGGAATCCAGTAACGTTTTAACACAATTTTACAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGGCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCTCGGCTAATTTTGTATTTTTAGTACAGAAGGGGCTTCTCTGTTGGTCAGGCTGGTCGTGAACTCTCAACCTCAGGTGAGCCACCCGCCTGAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCTGGCCTTTTTTTTGAGACAGAGTCTCGCTCTCGCCCATGCTGTACTGCAGTGACGCAGTCTGGGCTCACTGTAACCTCCGCTTCCCAGGTTCAAGTGATTCTTCTGCCGCAGCCTCCCATGTAGAGTAGCTGGGATTACAGGCACCCGCCACCATGCCTGGCTAATTCTTGCATTTTTAGTAGAGATGGGGTTTCACAGTGTTGGCCAGGCTGGTCTCAAACTTCTGACCTCAAGTCATCTGCCTGCCTTGGCCCTGCCAAAGTGCTGGGATTATAGATGTGAGCCACCGCGCCTGGCCTACAGTTTATTCTTTGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCAAGGTGGGAGAATGGCTTGAGCCCAGGAGTTCAAGTCCAGCCTGGGCAACATAGCAAGACCCTATCTCTACTACAAAATAAATAATAAATAAACTAATTTTTTTTCTTTTAAAACCCAACTATTCAACATGGCAATGCAATATATTAAAAAAATTTTTTTTTTCTTTGAAACGGAGTCTCTCACTGTCACCCGGGCTGGAGTGCAGTGTCGCCATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTCCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCACCACCATACCCAGCTAATATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGGCAGGCTGGTCTGGAACTCCTGACCTCGTGATCTGCCCGAGGATCGGCGGCCTCCCAAAGTGCTGGGGATTGCAGGCATGAGCCACCGTGCCCAGCCAAAACTTTTTTATTTTTATTTTTTTGGGACACGGTCTCACTGTGTACCCCAGACTGGAGTGATAGAGTGCTGTCATGGCTCACTGCAGCCTCAACCTCCCTGGGCTCAGGTGATCTTCCTGCTTCAGTCTCCCAGGTAGCTGGGACTACAGGCATGAGCCACCACACCCAGCTAATTTTTGAATTTTTTTGTAGAGACAGGGTTTCACCTTGTGGCCCAGACTTGTCTCTAACTCCAGGGCTCAAGCGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTAATGCAATTTAAAAAATTTTTTGGCCAGGCCTGGTGGCTCATGCCTGTATTCACAACACCTTGGGAGGCAAAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCCTGTCTACTAAAAAAATACAAAAATTACCTGGGCACAGTGGTGGGTGCCTGTAATCCCAGCTACTTGGGATGCTGA | CAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGCCATGATCTCAGCTCACTGCAAGCTCCACTTCCCAGGCTCACGCCATTCTCCAGCCTCAGCCTCCCAAGTAGCTGAGACTACAGGGGCCCGCCACCACACTCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTTGAACTCCTAACCTCAGGCGATTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGTATGAGCCACCTCGCCTGGTGTGAGCCACCTCGCCCAGCCTGAGCCACCTCACCCAGCCTAAGCCACTGTGCCTGGCCTGATTTTGGACTTTTTAAAAATTTTATTAATAATTATTTTTGGGTTTCTTTTTTTTGAGACAGGGTCTTACTCTGTCATCCAGGCCATCCTGTCTGTCTGTCATCCCAGTGATGGGATCATACCTTGCTGCAGCCTCTACCTCCTGGGCTCAAGCGATCCTCCCCCCTCAGCCTCCTGAGTAGCTGGGAGTACAGGTGTGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTTTGTATATAGAGATGGTATTTTGCCATGTTGACCAGGCTAGTCTTAAACTCCTGGACTCACTCAAGAGATCCTCCTGCCTTGGCCTCCCAAGGTCATTTGAGACTTTCGTCATTAGGCGCACACCTATGAGAAGGGCCTGCAGGCACGTGGCACTCAGAAGACGTTTATTTATTCTTTCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTCTCACCAAGGTAAAGACTGGGCCCTCCCTAGGCCCCTCTTCACCCAGAGACGGGTCCCTTCAGTGGCCACGAACATTTTGGTCACGAGATGGAGTCCAGGTGTCGTCCTCACTCCCTTGCTGACCTTCTCTCACTTGGGCCGTGTGTCTCTGGGCCCTCAGTTTCCCTATCTGTAAAGTGGGTCTAATAACAGTTCTTGCCCTCTTTGCAAGGATTAAATGGGCCAAATCATATGAGGGGCCAGGTCCTTCAGGCTCCTGGTTCCCAAAGTCAGCCACGCACCGTGTGGGTCCCAAAATTTTATCAAGGCACATTCGTTGCCTCAGCTTCAGGCATCTGCCCAAAAAGGCCAGGACTAAGGCAAGGAGAGGGAGGGATTCCTCAGTACTCAGCTTTTCACAGAGGCTCCAAAAGGCTAAGGAATCCAGTAACGTTTTAACACAATTTTACAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGGCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCTCGGCTAATTTTGTATTTTTAGTACAGAAGGGGCTTCTCTGTTGGTCAGGCTGGTCGTGAACTCTCAACCTCAGGTGAGCCACCCGCCTGAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCTGGCCTTTTTTTTGAGACAGAGTCTCGCTCTCGCCCATGCTGTACTGCAGTGACGCAGTCTGGGCTCACTGTAACCTCCGCTTCCCAGGTTCAAGTGATTCTTCTGCCGCAGCCTCCCATGTAGAGTAGCTGGGATTACAGGCACCCGCCACCATGCCTGGCTAATTCTTGCATTTTTAGTAGAGATGGGGTTTCACAGTGTTGGCCAGGCTGGTCTCAAACTTCTGACCTCAAGTCATCTGCCTGCCTTGGCCCTGCCAAAGTGCTGGGATTATAGATGTGAGCCACCGCGCCTGGCCTACAGTTTATTCTTTGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCAAGGTGGGAGAATGGCTTGAGCCCAGGAGTTCAAGTCCAGCCTGGGCAACATAGCAAGACCCTATCTCTACTACAAAATAAATAATAAATAAACTAATTTTTTTTCTTTTAAAACCCAACTATTCAACATGGCAATGCAATATATTAAAAAAATTTTTTTTTTCTTTGAAACGGAGTCTCTCACTGTCACCCGGGCTGGAGTGCAGTGTCGCCATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTCCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCACCACCATACCCAGCTAATATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGGCAGGCTGGTCTGGAACTCCTGACCTCGTGATCTGCCCGAGGATCGGCGGCCTCCCAAAGTGCTGGGGATTGCAGGCATGAGCCACCGTGCCCAGCCAAAACTTTTTTATTTTTATTTTTTTGGGACACGGTCTCACTGTGTACCCCAGACTGGAGTGATAGAGTGCTGTCATGGCTCACTGCAGCCTCAACCTCCCTGGGCTCAGGTGATCTTCCTGCTTCAGTCTCCCAGGTAGCTGGGACTACAGGCATGAGCCACCACACCCAGCTAATTTTTGAATTTTTTTGTAGAGACAGGGTTTCACCTTGTGGCCCAGACTTGTCTCTAACTCCAGGGCTCAAGCGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTAATGCAATTTAAAAAATTTTTTGGCCAGGCCTGGTGGCTCATGCCTGTATTCACAACACCTTGGGAGGCAAAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCCTGTCTACTAAAAAAATACAAAAATTACCTGGGCACAGTGGTGGGTGCCTGTAATCCCAGCTACTTGGGATGCTGANNNNNNNN | pathogenic | 298,736 |
Evaluate if the mutation on chromosome 19 at position 11128029 in LDLR (low density lipoprotein receptor) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCACGAGAATCGCTTGAATCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCGCCATTGCACTCCAGCCTGGAGGACAAGAGTGAAACTCCATTCCCCTCTGCAAAGAAAAGGAATATTATCAGATTCCTAAGCTTTTTGGCTCCCCCTTTAGTTTGGGGGCTGGGGTGGTGAGTGTCTGACCTGGCCTCACTGTCCTCCCTGGATGTGATGAGACCCAGGTGTGGGTCAGGATGTCATTCGTTTGTCCACCAGAGGGCGCCCAAACTGCTTTGAGCTGCTGGGAAATGGTGCTCCTAGACTTTTAGCAAACAAACAAAAAAAAATGGCACATCGGCAAATTTCAGACCATTCTTTTTTTTTTTTTTTTTGGTTCCAGAGTAGCTGAAATCTTTGTTCAGTTACAAGCAGGATAAAATGGAAACTGCCTGGGAGAGGCTGAGAAACCTTCTTGCTTGGGGGAGGTGGGGCACTGCTAGAATTAATCGCTTCACAGACCAGCCCATCCAGGACTCCTCAAATTTGGCAAAAAAGCCATTCATTCATTCATTCATTTATGTAGAGACGAGGGGGATCTGGCTATATTGCCTAGATTGGTCTCAAATTCCTGGCCTCAAGTGATCCTCCTGCCTTGGTCTACTAATGTGCTGCGATTACAGGCATGAGCCACCGTGCCTAGCTCTAGTGGACTTGAAATGTTGCCTTGCCCAGGGCCCTTATGTTGAATGGCCCAGGTCCACTTGTATGGTTCTGTACCAAGGTTAACCCCATCCCATAATGCCTGGGACAGTTGATGCAGGACAATCAGCTTCTGTGCCATTCAACCTCAGGACTGAGCATGCTGGGCATTGTGGGGTCCGAAGGTGGCTCCCCTGTCCCCTTCAAAATACCCTCTTTTTCTTTTCTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGAAGTCTTGCTCTGTTGCCCCAGCTAGAGTGCAGTGGTGCGATCTCAGCTCCCCGCAACCTCTGCTTCCCGGGTTCAGGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCACCGCCACAGCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGCAACCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTTTGAGCCACTGGGCCTGGCCTTTTTTTTTTTTTTTTGAGAGGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAATGGCGCGATCTTGACTCACTGCAACTCCATTTCCCGGGTTCAAGTGATTCTCCTCCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATGCCACCACGGCCAGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGATCATGCTGGTCTCAAACTCCTGACCTTAGGTGATCTGCCCGCCTTAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGCGCCCAGACCAAAATATGCTCATTTTAATAAAATGCACAAGTAGGTTGACAAGAATTTCACCTGCAACCTTGTCAACCACCTAGAATAAAAGCCTCTGCAGCCCTCCCCTAAAGACTCATCAATGTGAGGCTCAAGAACCTTCTTAGGCTGGGCTCGGTGGCTCATTTCTGTAATCCCTGCACTTTGGAAGGCTGAGGCAGGAGGATCTCTTGAGGCCAGGAGTTCAAGACAAGCCTGGGCAACATAGCCAGACCTCTGTTTCTATCCCCCACAAAAAGAACCTTCTTAAACCGGAATTGAGTCCTACAACCTCGATAACTCACAAATAAGCCCGTGTGGCCTCTCACAGACTTGGGAAGTTCTCCAAGTGTCCAGGGAGATGTGCCAGGCGCTTTCCTGCCGTGACCACCGTCCTCTGCCTGCTCCATTTCTTGGTGGCCTTCCTTTAGACCTGGGCCTCACTCTTGCTTCTCTCCTGCAGCTCTGGGCGACGTTGCTGGCAGAGGAAATGAGAAGAAGCCCAGTAGCGTGAGGGCTCTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCCCAGCGTCCCCCAGGTCACAGCCTCCCGCTATGTGACCTCGTGCCTGGCTGGTTGGGCCTGTTCACTTTTTCTCCTGGACAGGGAACAGCCCCACTGGTGTCCTTTATCACCCCCACGGCCTCTCCTGGCTTGGGGCTGACAGTGACAAGATCAGACAGCTAAGGGGTCAGATGGAGGATGTGGAGCTGGGTCCCGTGCTGTGGAATAGCCTCACCGAGATTTGAGTGCCTTCTGGGGAACTGGTTCCCTTGCAGGGGGCTGTGTGGAGAGGCGCGCTCTCCCTGCCTCACCCATGCTCATCCTAACTCGGTTACCATCACATCTCTTTTTTCTTTTTTTCTTAAATTTTAAGAAAAAAGAAATTTAATTTTTTTGAGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACCATCATGCCTCGCTGCAGCCTCAATGTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGTGCAAGCCACTATACCCCACTTCCTATTTCTTAAAAAGTCACAGCCCTGTGTGTGGCTAATCCTGGACAGAAATCTAGAAGAAGTCAGCTACTTCTGGGGCGTGGCTCACCCAGTGGGCTTCAGGTTAGATATTTCTTATACTTATGAGGCTGGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGTGGATTGCTTGGGCTCAGGAGTTCGAGACCAACCTGGGCAACATGGCGAAACCCTGTTTCTAGAAAAGGTACAAAAATTAGCTGGGCAGGTGGCACGTGCCTGTGGTACCAGCTACTTGAGGGCCTGAGGCAGGAGGATCGCTTGAACCTGGGAGGTCGAGGTTGCAGTGAACTGAGATCATGTCACTGCACTCCAGCCTGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAAAAAAGAAAGAAAAAAATTCTTATGCATAGATTTGCCTCTTTTCTGTTTGTTTGTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGCTCAACCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGACTGGGTTTCATCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCAGGCCCAGGCCGCAAGGCGATCTCTAAACAAACATAAAAGACCAGGAGTCAAGGTTATGGTACGATGCCCGTGTTTTCACTCCAGCCACGGAGCTGGGTCTCTGGTCTCGGGGGCAGCTGTGTGACAGAGCGTGCCTCTCCCTACAGTGCTCCTCGTCTTCCTTTGCCTGGGGGTCTTCCTTCTATGGAAGAACTGGCGGCTTAAGAACATCAACAGCATCAACTTTGACAACCCCGTCTATCAGAAGACCACAGAGGATGAGGTCCACATTTGCCACAACCAGGACGGCTACAGCTACCCCTCGGTGAGTGACCCTCTCTAGAAAGCCAGAGCCCATGGCGGCCCCCTCCCAGCTGGAGGCATATGATCCTCAAGGGACCAGGCCGAGGCTTCCCCAGCCCTCCAGATCGAGGACAGCATTAGGTGAATGCTTCTGTGCGCTCATTCAGAATGTCAGCGGACAATGGCCTTGGTGGTGTAGAGGAATGTTGGATAAGCAAATAGAGAGCTCCATCAGATGGTGACAGGGCAAAGAAAGTCAAAAGGAGTTCAGAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGGACTTTGGGAGGCCGAGGCTGGCGGATCACCTGAAGTCAGGAGTTTGAGACCAGCTTGGCCATCATGACAAAACCCCGTCTCTATTAAAAATACAAAAAATTAGCCAGGCGTGGGAGTGGGC | GGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCACGAGAATCGCTTGAATCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCGCCATTGCACTCCAGCCTGGAGGACAAGAGTGAAACTCCATTCCCCTCTGCAAAGAAAAGGAATATTATCAGATTCCTAAGCTTTTTGGCTCCCCCTTTAGTTTGGGGGCTGGGGTGGTGAGTGTCTGACCTGGCCTCACTGTCCTCCCTGGATGTGATGAGACCCAGGTGTGGGTCAGGATGTCATTCGTTTGTCCACCAGAGGGCGCCCAAACTGCTTTGAGCTGCTGGGAAATGGTGCTCCTAGACTTTTAGCAAACAAACAAAAAAAAATGGCACATCGGCAAATTTCAGACCATTCTTTTTTTTTTTTTTTTTGGTTCCAGAGTAGCTGAAATCTTTGTTCAGTTACAAGCAGGATAAAATGGAAACTGCCTGGGAGAGGCTGAGAAACCTTCTTGCTTGGGGGAGGTGGGGCACTGCTAGAATTAATCGCTTCACAGACCAGCCCATCCAGGACTCCTCAAATTTGGCAAAAAAGCCATTCATTCATTCATTCATTTATGTAGAGACGAGGGGGATCTGGCTATATTGCCTAGATTGGTCTCAAATTCCTGGCCTCAAGTGATCCTCCTGCCTTGGTCTACTAATGTGCTGCGATTACAGGCATGAGCCACCGTGCCTAGCTCTAGTGGACTTGAAATGTTGCCTTGCCCAGGGCCCTTATGTTGAATGGCCCAGGTCCACTTGTATGGTTCTGTACCAAGGTTAACCCCATCCCATAATGCCTGGGACAGTTGATGCAGGACAATCAGCTTCTGTGCCATTCAACCTCAGGACTGAGCATGCTGGGCATTGTGGGGTCCGAAGGTGGCTCCCCTGTCCCCTTCAAAATACCCTCTTTTTCTTTTCTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGAAGTCTTGCTCTGTTGCCCCAGCTAGAGTGCAGTGGTGCGATCTCAGCTCCCCGCAACCTCTGCTTCCCGGGTTCAGGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCACCGCCACAGCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGCAACCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTTTGAGCCACTGGGCCTGGCCTTTTTTTTTTTTTTTTGAGAGGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAATGGCGCGATCTTGACTCACTGCAACTCCATTTCCCGGGTTCAAGTGATTCTCCTCCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATGCCACCACGGCCAGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGATCATGCTGGTCTCAAACTCCTGACCTTAGGTGATCTGCCCGCCTTAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGCGCCCAGACCAAAATATGCTCATTTTAATAAAATGCACAAGTAGGTTGACAAGAATTTCACCTGCAACCTTGTCAACCACCTAGAATAAAAGCCTCTGCAGCCCTCCCCTAAAGACTCATCAATGTGAGGCTCAAGAACCTTCTTAGGCTGGGCTCGGTGGCTCATTTCTGTAATCCCTGCACTTTGGAAGGCTGAGGCAGGAGGATCTCTTGAGGCCAGGAGTTCAAGACAAGCCTGGGCAACATAGCCAGACCTCTGTTTCTATCCCCCACAAAAAGAACCTTCTTAAACCGGAATTGAGTCCTACAACCTCGATAACTCACAAATAAGCCCGTGTGGCCTCTCACAGACTTGGGAAGTTCTCCAAGTGTCCAGGGAGATGTGCCAGGCGCTTTCCTGCCGTGACCACCGTCCTCTGCCTGCTCCATTTCTTGGTGGCCTTCCTTTAGACCTGGGCCTCACTCTTGCTTCTCTCCTGCAGCTCTGGGCGACGTTGCTGGCAGCAGGAAATGAGAAGAAGCCCAGTAGCGTGAGGGCTCTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCCCAGCGTCCCCCAGGTCACAGCCTCCCGCTATGTGACCTCGTGCCTGGCTGGTTGGGCCTGTTCACTTTTTCTCCTGGACAGGGAACAGCCCCACTGGTGTCCTTTATCACCCCCACGGCCTCTCCTGGCTTGGGGCTGACAGTGACAAGATCAGACAGCTAAGGGGTCAGATGGAGGATGTGGAGCTGGGTCCCGTGCTGTGGAATAGCCTCACCGAGATTTGAGTGCCTTCTGGGGAACTGGTTCCCTTGCAGGGGGCTGTGTGGAGAGGCGCGCTCTCCCTGCCTCACCCATGCTCATCCTAACTCGGTTACCATCACATCTCTTTTTTCTTTTTTTCTTAAATTTTAAGAAAAAAGAAATTTAATTTTTTTGAGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACCATCATGCCTCGCTGCAGCCTCAATGTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGTGCAAGCCACTATACCCCACTTCCTATTTCTTAAAAAGTCACAGCCCTGTGTGTGGCTAATCCTGGACAGAAATCTAGAAGAAGTCAGCTACTTCTGGGGCGTGGCTCACCCAGTGGGCTTCAGGTTAGATATTTCTTATACTTATGAGGCTGGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGTGGATTGCTTGGGCTCAGGAGTTCGAGACCAACCTGGGCAACATGGCGAAACCCTGTTTCTAGAAAAGGTACAAAAATTAGCTGGGCAGGTGGCACGTGCCTGTGGTACCAGCTACTTGAGGGCCTGAGGCAGGAGGATCGCTTGAACCTGGGAGGTCGAGGTTGCAGTGAACTGAGATCATGTCACTGCACTCCAGCCTGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAAAAAAGAAAGAAAAAAATTCTTATGCATAGATTTGCCTCTTTTCTGTTTGTTTGTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGCTCAACCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGACTGGGTTTCATCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCAGGCCCAGGCCGCAAGGCGATCTCTAAACAAACATAAAAGACCAGGAGTCAAGGTTATGGTACGATGCCCGTGTTTTCACTCCAGCCACGGAGCTGGGTCTCTGGTCTCGGGGGCAGCTGTGTGACAGAGCGTGCCTCTCCCTACAGTGCTCCTCGTCTTCCTTTGCCTGGGGGTCTTCCTTCTATGGAAGAACTGGCGGCTTAAGAACATCAACAGCATCAACTTTGACAACCCCGTCTATCAGAAGACCACAGAGGATGAGGTCCACATTTGCCACAACCAGGACGGCTACAGCTACCCCTCGGTGAGTGACCCTCTCTAGAAAGCCAGAGCCCATGGCGGCCCCCTCCCAGCTGGAGGCATATGATCCTCAAGGGACCAGGCCGAGGCTTCCCCAGCCCTCCAGATCGAGGACAGCATTAGGTGAATGCTTCTGTGCGCTCATTCAGAATGTCAGCGGACAATGGCCTTGGTGGTGTAGAGGAATGTTGGATAAGCAAATAGAGAGCTCCATCAGATGGTGACAGGGCAAAGAAAGTCAAAAGGAGTTCAGAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGGACTTTGGGAGGCCGAGGCTGGCGGATCACCTGAAGTCAGGAGTTTGAGACCAGCTTGGCCATCATGACAAAACCCCGTCTCTATTAAAAATACAAAAAATTAGCCAGGCGTGGGAGTGGG | pathogenic | 298,751 |
Clinically, how would you classify the variant at chromosome 19, position 11128077, gene LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | ACGAGAATCGCTTGAATCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCGCCATTGCACTCCAGCCTGGAGGACAAGAGTGAAACTCCATTCCCCTCTGCAAAGAAAAGGAATATTATCAGATTCCTAAGCTTTTTGGCTCCCCCTTTAGTTTGGGGGCTGGGGTGGTGAGTGTCTGACCTGGCCTCACTGTCCTCCCTGGATGTGATGAGACCCAGGTGTGGGTCAGGATGTCATTCGTTTGTCCACCAGAGGGCGCCCAAACTGCTTTGAGCTGCTGGGAAATGGTGCTCCTAGACTTTTAGCAAACAAACAAAAAAAAATGGCACATCGGCAAATTTCAGACCATTCTTTTTTTTTTTTTTTTTGGTTCCAGAGTAGCTGAAATCTTTGTTCAGTTACAAGCAGGATAAAATGGAAACTGCCTGGGAGAGGCTGAGAAACCTTCTTGCTTGGGGGAGGTGGGGCACTGCTAGAATTAATCGCTTCACAGACCAGCCCATCCAGGACTCCTCAAATTTGGCAAAAAAGCCATTCATTCATTCATTCATTTATGTAGAGACGAGGGGGATCTGGCTATATTGCCTAGATTGGTCTCAAATTCCTGGCCTCAAGTGATCCTCCTGCCTTGGTCTACTAATGTGCTGCGATTACAGGCATGAGCCACCGTGCCTAGCTCTAGTGGACTTGAAATGTTGCCTTGCCCAGGGCCCTTATGTTGAATGGCCCAGGTCCACTTGTATGGTTCTGTACCAAGGTTAACCCCATCCCATAATGCCTGGGACAGTTGATGCAGGACAATCAGCTTCTGTGCCATTCAACCTCAGGACTGAGCATGCTGGGCATTGTGGGGTCCGAAGGTGGCTCCCCTGTCCCCTTCAAAATACCCTCTTTTTCTTTTCTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGAAGTCTTGCTCTGTTGCCCCAGCTAGAGTGCAGTGGTGCGATCTCAGCTCCCCGCAACCTCTGCTTCCCGGGTTCAGGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCACCGCCACAGCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGCAACCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTTTGAGCCACTGGGCCTGGCCTTTTTTTTTTTTTTTTGAGAGGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAATGGCGCGATCTTGACTCACTGCAACTCCATTTCCCGGGTTCAAGTGATTCTCCTCCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATGCCACCACGGCCAGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGATCATGCTGGTCTCAAACTCCTGACCTTAGGTGATCTGCCCGCCTTAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGCGCCCAGACCAAAATATGCTCATTTTAATAAAATGCACAAGTAGGTTGACAAGAATTTCACCTGCAACCTTGTCAACCACCTAGAATAAAAGCCTCTGCAGCCCTCCCCTAAAGACTCATCAATGTGAGGCTCAAGAACCTTCTTAGGCTGGGCTCGGTGGCTCATTTCTGTAATCCCTGCACTTTGGAAGGCTGAGGCAGGAGGATCTCTTGAGGCCAGGAGTTCAAGACAAGCCTGGGCAACATAGCCAGACCTCTGTTTCTATCCCCCACAAAAAGAACCTTCTTAAACCGGAATTGAGTCCTACAACCTCGATAACTCACAAATAAGCCCGTGTGGCCTCTCACAGACTTGGGAAGTTCTCCAAGTGTCCAGGGAGATGTGCCAGGCGCTTTCCTGCCGTGACCACCGTCCTCTGCCTGCTCCATTTCTTGGTGGCCTTCCTTTAGACCTGGGCCTCACTCTTGCTTCTCTCCTGCAGCTCTGGGCGACGTTGCTGGCAGAGGAAATGAGAAGAAGCCCAGTAGCGTGAGGGCTCTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCCCAGCGTCCCCCAGGTCACAGCCTCCCGCTATGTGACCTCGTGCCTGGCTGGTTGGGCCTGTTCACTTTTTCTCCTGGACAGGGAACAGCCCCACTGGTGTCCTTTATCACCCCCACGGCCTCTCCTGGCTTGGGGCTGACAGTGACAAGATCAGACAGCTAAGGGGTCAGATGGAGGATGTGGAGCTGGGTCCCGTGCTGTGGAATAGCCTCACCGAGATTTGAGTGCCTTCTGGGGAACTGGTTCCCTTGCAGGGGGCTGTGTGGAGAGGCGCGCTCTCCCTGCCTCACCCATGCTCATCCTAACTCGGTTACCATCACATCTCTTTTTTCTTTTTTTCTTAAATTTTAAGAAAAAAGAAATTTAATTTTTTTGAGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACCATCATGCCTCGCTGCAGCCTCAATGTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGTGCAAGCCACTATACCCCACTTCCTATTTCTTAAAAAGTCACAGCCCTGTGTGTGGCTAATCCTGGACAGAAATCTAGAAGAAGTCAGCTACTTCTGGGGCGTGGCTCACCCAGTGGGCTTCAGGTTAGATATTTCTTATACTTATGAGGCTGGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGTGGATTGCTTGGGCTCAGGAGTTCGAGACCAACCTGGGCAACATGGCGAAACCCTGTTTCTAGAAAAGGTACAAAAATTAGCTGGGCAGGTGGCACGTGCCTGTGGTACCAGCTACTTGAGGGCCTGAGGCAGGAGGATCGCTTGAACCTGGGAGGTCGAGGTTGCAGTGAACTGAGATCATGTCACTGCACTCCAGCCTGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAAAAAAGAAAGAAAAAAATTCTTATGCATAGATTTGCCTCTTTTCTGTTTGTTTGTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGCTCAACCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGACTGGGTTTCATCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCAGGCCCAGGCCGCAAGGCGATCTCTAAACAAACATAAAAGACCAGGAGTCAAGGTTATGGTACGATGCCCGTGTTTTCACTCCAGCCACGGAGCTGGGTCTCTGGTCTCGGGGGCAGCTGTGTGACAGAGCGTGCCTCTCCCTACAGTGCTCCTCGTCTTCCTTTGCCTGGGGGTCTTCCTTCTATGGAAGAACTGGCGGCTTAAGAACATCAACAGCATCAACTTTGACAACCCCGTCTATCAGAAGACCACAGAGGATGAGGTCCACATTTGCCACAACCAGGACGGCTACAGCTACCCCTCGGTGAGTGACCCTCTCTAGAAAGCCAGAGCCCATGGCGGCCCCCTCCCAGCTGGAGGCATATGATCCTCAAGGGACCAGGCCGAGGCTTCCCCAGCCCTCCAGATCGAGGACAGCATTAGGTGAATGCTTCTGTGCGCTCATTCAGAATGTCAGCGGACAATGGCCTTGGTGGTGTAGAGGAATGTTGGATAAGCAAATAGAGAGCTCCATCAGATGGTGACAGGGCAAAGAAAGTCAAAAGGAGTTCAGAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGGACTTTGGGAGGCCGAGGCTGGCGGATCACCTGAAGTCAGGAGTTTGAGACCAGCTTGGCCATCATGACAAAACCCCGTCTCTATTAAAAATACAAAAAATTAGCCAGGCGTGGGAGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCCGAGGTAGAAAAATCGCTTGA | ACGAGAATCGCTTGAATCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCGCCATTGCACTCCAGCCTGGAGGACAAGAGTGAAACTCCATTCCCCTCTGCAAAGAAAAGGAATATTATCAGATTCCTAAGCTTTTTGGCTCCCCCTTTAGTTTGGGGGCTGGGGTGGTGAGTGTCTGACCTGGCCTCACTGTCCTCCCTGGATGTGATGAGACCCAGGTGTGGGTCAGGATGTCATTCGTTTGTCCACCAGAGGGCGCCCAAACTGCTTTGAGCTGCTGGGAAATGGTGCTCCTAGACTTTTAGCAAACAAACAAAAAAAAATGGCACATCGGCAAATTTCAGACCATTCTTTTTTTTTTTTTTTTTGGTTCCAGAGTAGCTGAAATCTTTGTTCAGTTACAAGCAGGATAAAATGGAAACTGCCTGGGAGAGGCTGAGAAACCTTCTTGCTTGGGGGAGGTGGGGCACTGCTAGAATTAATCGCTTCACAGACCAGCCCATCCAGGACTCCTCAAATTTGGCAAAAAAGCCATTCATTCATTCATTCATTTATGTAGAGACGAGGGGGATCTGGCTATATTGCCTAGATTGGTCTCAAATTCCTGGCCTCAAGTGATCCTCCTGCCTTGGTCTACTAATGTGCTGCGATTACAGGCATGAGCCACCGTGCCTAGCTCTAGTGGACTTGAAATGTTGCCTTGCCCAGGGCCCTTATGTTGAATGGCCCAGGTCCACTTGTATGGTTCTGTACCAAGGTTAACCCCATCCCATAATGCCTGGGACAGTTGATGCAGGACAATCAGCTTCTGTGCCATTCAACCTCAGGACTGAGCATGCTGGGCATTGTGGGGTCCGAAGGTGGCTCCCCTGTCCCCTTCAAAATACCCTCTTTTTCTTTTCTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGAAGTCTTGCTCTGTTGCCCCAGCTAGAGTGCAGTGGTGCGATCTCAGCTCCCCGCAACCTCTGCTTCCCGGGTTCAGGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCACCGCCACAGCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGCAACCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTTTGAGCCACTGGGCCTGGCCTTTTTTTTTTTTTTTTGAGAGGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAATGGCGCGATCTTGACTCACTGCAACTCCATTTCCCGGGTTCAAGTGATTCTCCTCCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATGCCACCACGGCCAGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGATCATGCTGGTCTCAAACTCCTGACCTTAGGTGATCTGCCCGCCTTAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGCGCCCAGACCAAAATATGCTCATTTTAATAAAATGCACAAGTAGGTTGACAAGAATTTCACCTGCAACCTTGTCAACCACCTAGAATAAAAGCCTCTGCAGCCCTCCCCTAAAGACTCATCAATGTGAGGCTCAAGAACCTTCTTAGGCTGGGCTCGGTGGCTCATTTCTGTAATCCCTGCACTTTGGAAGGCTGAGGCAGGAGGATCTCTTGAGGCCAGGAGTTCAAGACAAGCCTGGGCAACATAGCCAGACCTCTGTTTCTATCCCCCACAAAAAGAACCTTCTTAAACCGGAATTGAGTCCTACAACCTCGATAACTCACAAATAAGCCCGTGTGGCCTCTCACAGACTTGGGAAGTTCTCCAAGTGTCCAGGGAGATGTGCCAGGCGCTTTCCTGCCGTGACCACCGTCCTCTGCCTGCTCCATTTCTTGGTGGCCTTCCTTTAGACCTGGGCCTCACTCTTGCTTCTCTCCTGCAGCTCTGGGCGACGTTGCTGGCAGAGGAAATGAGAAGAAGCCCAGTAGCGTGAGGGCTCTGTCCATTGTCCTCCCATCGGTAAGCGCGGGCCGGTCCCCCAGCGTCCCCCAGGTCACAGCCTCCCGCTATGTGACCTCGTGCCTGGCTGGTTGGGCCTGTTCACTTTTTCTCCTGGACAGGGAACAGCCCCACTGGTGTCCTTTATCACCCCCACGGCCTCTCCTGGCTTGGGGCTGACAGTGACAAGATCAGACAGCTAAGGGGTCAGATGGAGGATGTGGAGCTGGGTCCCGTGCTGTGGAATAGCCTCACCGAGATTTGAGTGCCTTCTGGGGAACTGGTTCCCTTGCAGGGGGCTGTGTGGAGAGGCGCGCTCTCCCTGCCTCACCCATGCTCATCCTAACTCGGTTACCATCACATCTCTTTTTTCTTTTTTTCTTAAATTTTAAGAAAAAAGAAATTTAATTTTTTTGAGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACCATCATGCCTCGCTGCAGCCTCAATGTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGTGCAAGCCACTATACCCCACTTCCTATTTCTTAAAAAGTCACAGCCCTGTGTGTGGCTAATCCTGGACAGAAATCTAGAAGAAGTCAGCTACTTCTGGGGCGTGGCTCACCCAGTGGGCTTCAGGTTAGATATTTCTTATACTTATGAGGCTGGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGTGGATTGCTTGGGCTCAGGAGTTCGAGACCAACCTGGGCAACATGGCGAAACCCTGTTTCTAGAAAAGGTACAAAAATTAGCTGGGCAGGTGGCACGTGCCTGTGGTACCAGCTACTTGAGGGCCTGAGGCAGGAGGATCGCTTGAACCTGGGAGGTCGAGGTTGCAGTGAACTGAGATCATGTCACTGCACTCCAGCCTGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAAAAAAGAAAGAAAAAAATTCTTATGCATAGATTTGCCTCTTTTCTGTTTGTTTGTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGCTCAACCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGACTGGGTTTCATCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCAGGCCCAGGCCGCAAGGCGATCTCTAAACAAACATAAAAGACCAGGAGTCAAGGTTATGGTACGATGCCCGTGTTTTCACTCCAGCCACGGAGCTGGGTCTCTGGTCTCGGGGGCAGCTGTGTGACAGAGCGTGCCTCTCCCTACAGTGCTCCTCGTCTTCCTTTGCCTGGGGGTCTTCCTTCTATGGAAGAACTGGCGGCTTAAGAACATCAACAGCATCAACTTTGACAACCCCGTCTATCAGAAGACCACAGAGGATGAGGTCCACATTTGCCACAACCAGGACGGCTACAGCTACCCCTCGGTGAGTGACCCTCTCTAGAAAGCCAGAGCCCATGGCGGCCCCCTCCCAGCTGGAGGCATATGATCCTCAAGGGACCAGGCCGAGGCTTCCCCAGCCCTCCAGATCGAGGACAGCATTAGGTGAATGCTTCTGTGCGCTCATTCAGAATGTCAGCGGACAATGGCCTTGGTGGTGTAGAGGAATGTTGGATAAGCAAATAGAGAGCTCCATCAGATGGTGACAGGGCAAAGAAAGTCAAAAGGAGTTCAGAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGGACTTTGGGAGGCCGAGGCTGGCGGATCACCTGAAGTCAGGAGTTTGAGACCAGCTTGGCCATCATGACAAAACCCCGTCTCTATTAAAAATACAAAAAATTAGCCAGGCGTGGGAGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCCGAGGTAGAAAAATCGCTTGAN | pathogenic | 298,755 |
Clinical impact (benign or pathogenic) of the variant at chromosome 19, location 11128099, gene LDLR (low density lipoprotein receptor): what disease(s) if pathogenic? | benign | AGGCGGAGGTTGCAGTGAGCTGAGATTGCGCCATTGCACTCCAGCCTGGAGGACAAGAGTGAAACTCCATTCCCCTCTGCAAAGAAAAGGAATATTATCAGATTCCTAAGCTTTTTGGCTCCCCCTTTAGTTTGGGGGCTGGGGTGGTGAGTGTCTGACCTGGCCTCACTGTCCTCCCTGGATGTGATGAGACCCAGGTGTGGGTCAGGATGTCATTCGTTTGTCCACCAGAGGGCGCCCAAACTGCTTTGAGCTGCTGGGAAATGGTGCTCCTAGACTTTTAGCAAACAAACAAAAAAAAATGGCACATCGGCAAATTTCAGACCATTCTTTTTTTTTTTTTTTTTGGTTCCAGAGTAGCTGAAATCTTTGTTCAGTTACAAGCAGGATAAAATGGAAACTGCCTGGGAGAGGCTGAGAAACCTTCTTGCTTGGGGGAGGTGGGGCACTGCTAGAATTAATCGCTTCACAGACCAGCCCATCCAGGACTCCTCAAATTTGGCAAAAAAGCCATTCATTCATTCATTCATTTATGTAGAGACGAGGGGGATCTGGCTATATTGCCTAGATTGGTCTCAAATTCCTGGCCTCAAGTGATCCTCCTGCCTTGGTCTACTAATGTGCTGCGATTACAGGCATGAGCCACCGTGCCTAGCTCTAGTGGACTTGAAATGTTGCCTTGCCCAGGGCCCTTATGTTGAATGGCCCAGGTCCACTTGTATGGTTCTGTACCAAGGTTAACCCCATCCCATAATGCCTGGGACAGTTGATGCAGGACAATCAGCTTCTGTGCCATTCAACCTCAGGACTGAGCATGCTGGGCATTGTGGGGTCCGAAGGTGGCTCCCCTGTCCCCTTCAAAATACCCTCTTTTTCTTTTCTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGAAGTCTTGCTCTGTTGCCCCAGCTAGAGTGCAGTGGTGCGATCTCAGCTCCCCGCAACCTCTGCTTCCCGGGTTCAGGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCACCGCCACAGCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGCAACCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTTTGAGCCACTGGGCCTGGCCTTTTTTTTTTTTTTTTGAGAGGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAATGGCGCGATCTTGACTCACTGCAACTCCATTTCCCGGGTTCAAGTGATTCTCCTCCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATGCCACCACGGCCAGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGATCATGCTGGTCTCAAACTCCTGACCTTAGGTGATCTGCCCGCCTTAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGCGCCCAGACCAAAATATGCTCATTTTAATAAAATGCACAAGTAGGTTGACAAGAATTTCACCTGCAACCTTGTCAACCACCTAGAATAAAAGCCTCTGCAGCCCTCCCCTAAAGACTCATCAATGTGAGGCTCAAGAACCTTCTTAGGCTGGGCTCGGTGGCTCATTTCTGTAATCCCTGCACTTTGGAAGGCTGAGGCAGGAGGATCTCTTGAGGCCAGGAGTTCAAGACAAGCCTGGGCAACATAGCCAGACCTCTGTTTCTATCCCCCACAAAAAGAACCTTCTTAAACCGGAATTGAGTCCTACAACCTCGATAACTCACAAATAAGCCCGTGTGGCCTCTCACAGACTTGGGAAGTTCTCCAAGTGTCCAGGGAGATGTGCCAGGCGCTTTCCTGCCGTGACCACCGTCCTCTGCCTGCTCCATTTCTTGGTGGCCTTCCTTTAGACCTGGGCCTCACTCTTGCTTCTCTCCTGCAGCTCTGGGCGACGTTGCTGGCAGAGGAAATGAGAAGAAGCCCAGTAGCGTGAGGGCTCTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCCCAGCGTCCCCCAGGTCACAGCCTCCCGCTATGTGACCTCGTGCCTGGCTGGTTGGGCCTGTTCACTTTTTCTCCTGGACAGGGAACAGCCCCACTGGTGTCCTTTATCACCCCCACGGCCTCTCCTGGCTTGGGGCTGACAGTGACAAGATCAGACAGCTAAGGGGTCAGATGGAGGATGTGGAGCTGGGTCCCGTGCTGTGGAATAGCCTCACCGAGATTTGAGTGCCTTCTGGGGAACTGGTTCCCTTGCAGGGGGCTGTGTGGAGAGGCGCGCTCTCCCTGCCTCACCCATGCTCATCCTAACTCGGTTACCATCACATCTCTTTTTTCTTTTTTTCTTAAATTTTAAGAAAAAAGAAATTTAATTTTTTTGAGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACCATCATGCCTCGCTGCAGCCTCAATGTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGTGCAAGCCACTATACCCCACTTCCTATTTCTTAAAAAGTCACAGCCCTGTGTGTGGCTAATCCTGGACAGAAATCTAGAAGAAGTCAGCTACTTCTGGGGCGTGGCTCACCCAGTGGGCTTCAGGTTAGATATTTCTTATACTTATGAGGCTGGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGTGGATTGCTTGGGCTCAGGAGTTCGAGACCAACCTGGGCAACATGGCGAAACCCTGTTTCTAGAAAAGGTACAAAAATTAGCTGGGCAGGTGGCACGTGCCTGTGGTACCAGCTACTTGAGGGCCTGAGGCAGGAGGATCGCTTGAACCTGGGAGGTCGAGGTTGCAGTGAACTGAGATCATGTCACTGCACTCCAGCCTGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAAAAAAGAAAGAAAAAAATTCTTATGCATAGATTTGCCTCTTTTCTGTTTGTTTGTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGCTCAACCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGACTGGGTTTCATCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCAGGCCCAGGCCGCAAGGCGATCTCTAAACAAACATAAAAGACCAGGAGTCAAGGTTATGGTACGATGCCCGTGTTTTCACTCCAGCCACGGAGCTGGGTCTCTGGTCTCGGGGGCAGCTGTGTGACAGAGCGTGCCTCTCCCTACAGTGCTCCTCGTCTTCCTTTGCCTGGGGGTCTTCCTTCTATGGAAGAACTGGCGGCTTAAGAACATCAACAGCATCAACTTTGACAACCCCGTCTATCAGAAGACCACAGAGGATGAGGTCCACATTTGCCACAACCAGGACGGCTACAGCTACCCCTCGGTGAGTGACCCTCTCTAGAAAGCCAGAGCCCATGGCGGCCCCCTCCCAGCTGGAGGCATATGATCCTCAAGGGACCAGGCCGAGGCTTCCCCAGCCCTCCAGATCGAGGACAGCATTAGGTGAATGCTTCTGTGCGCTCATTCAGAATGTCAGCGGACAATGGCCTTGGTGGTGTAGAGGAATGTTGGATAAGCAAATAGAGAGCTCCATCAGATGGTGACAGGGCAAAGAAAGTCAAAAGGAGTTCAGAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGGACTTTGGGAGGCCGAGGCTGGCGGATCACCTGAAGTCAGGAGTTTGAGACCAGCTTGGCCATCATGACAAAACCCCGTCTCTATTAAAAATACAAAAAATTAGCCAGGCGTGGGAGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCCGAGGTAGAAAAATCGCTTGAACCTAGGAGGCAGAGGTTGCAG | AGGCGGAGGTTGCAGTGAGCTGAGATTGCGCCATTGCACTCCAGCCTGGAGGACAAGAGTGAAACTCCATTCCCCTCTGCAAAGAAAAGGAATATTATCAGATTCCTAAGCTTTTTGGCTCCCCCTTTAGTTTGGGGGCTGGGGTGGTGAGTGTCTGACCTGGCCTCACTGTCCTCCCTGGATGTGATGAGACCCAGGTGTGGGTCAGGATGTCATTCGTTTGTCCACCAGAGGGCGCCCAAACTGCTTTGAGCTGCTGGGAAATGGTGCTCCTAGACTTTTAGCAAACAAACAAAAAAAAATGGCACATCGGCAAATTTCAGACCATTCTTTTTTTTTTTTTTTTTGGTTCCAGAGTAGCTGAAATCTTTGTTCAGTTACAAGCAGGATAAAATGGAAACTGCCTGGGAGAGGCTGAGAAACCTTCTTGCTTGGGGGAGGTGGGGCACTGCTAGAATTAATCGCTTCACAGACCAGCCCATCCAGGACTCCTCAAATTTGGCAAAAAAGCCATTCATTCATTCATTCATTTATGTAGAGACGAGGGGGATCTGGCTATATTGCCTAGATTGGTCTCAAATTCCTGGCCTCAAGTGATCCTCCTGCCTTGGTCTACTAATGTGCTGCGATTACAGGCATGAGCCACCGTGCCTAGCTCTAGTGGACTTGAAATGTTGCCTTGCCCAGGGCCCTTATGTTGAATGGCCCAGGTCCACTTGTATGGTTCTGTACCAAGGTTAACCCCATCCCATAATGCCTGGGACAGTTGATGCAGGACAATCAGCTTCTGTGCCATTCAACCTCAGGACTGAGCATGCTGGGCATTGTGGGGTCCGAAGGTGGCTCCCCTGTCCCCTTCAAAATACCCTCTTTTTCTTTTCTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGAAGTCTTGCTCTGTTGCCCCAGCTAGAGTGCAGTGGTGCGATCTCAGCTCCCCGCAACCTCTGCTTCCCGGGTTCAGGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCACCGCCACAGCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGCAACCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTTTGAGCCACTGGGCCTGGCCTTTTTTTTTTTTTTTTGAGAGGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAATGGCGCGATCTTGACTCACTGCAACTCCATTTCCCGGGTTCAAGTGATTCTCCTCCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATGCCACCACGGCCAGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGATCATGCTGGTCTCAAACTCCTGACCTTAGGTGATCTGCCCGCCTTAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGCGCCCAGACCAAAATATGCTCATTTTAATAAAATGCACAAGTAGGTTGACAAGAATTTCACCTGCAACCTTGTCAACCACCTAGAATAAAAGCCTCTGCAGCCCTCCCCTAAAGACTCATCAATGTGAGGCTCAAGAACCTTCTTAGGCTGGGCTCGGTGGCTCATTTCTGTAATCCCTGCACTTTGGAAGGCTGAGGCAGGAGGATCTCTTGAGGCCAGGAGTTCAAGACAAGCCTGGGCAACATAGCCAGACCTCTGTTTCTATCCCCCACAAAAAGAACCTTCTTAAACCGGAATTGAGTCCTACAACCTCGATAACTCACAAATAAGCCCGTGTGGCCTCTCACAGACTTGGGAAGTTCTCCAAGTGTCCAGGGAGATGTGCCAGGCGCTTTCCTGCCGTGACCACCGTCCTCTGCCTGCTCCATTTCTTGGTGGCCTTCCTTTAGACCTGGGCCTCACTCTTGCTTCTCTCCTGCAGCTCTGGGCGACGTTGCTGGCAGAGGAAATGAGAAGAAGCCCAGTAGCGTGAGGGCTCTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCCCAGCGTCCCCCAGCGTCCCCCAGGTCACAGCCTCCCGCTATGTGACCTCGTGCCTGGCTGGTTGGGCCTGTTCACTTTTTCTCCTGGACAGGGAACAGCCCCACTGGTGTCCTTTATCACCCCCACGGCCTCTCCTGGCTTGGGGCTGACAGTGACAAGATCAGACAGCTAAGGGGTCAGATGGAGGATGTGGAGCTGGGTCCCGTGCTGTGGAATAGCCTCACCGAGATTTGAGTGCCTTCTGGGGAACTGGTTCCCTTGCAGGGGGCTGTGTGGAGAGGCGCGCTCTCCCTGCCTCACCCATGCTCATCCTAACTCGGTTACCATCACATCTCTTTTTTCTTTTTTTCTTAAATTTTAAGAAAAAAGAAATTTAATTTTTTTGAGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACCATCATGCCTCGCTGCAGCCTCAATGTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGTGCAAGCCACTATACCCCACTTCCTATTTCTTAAAAAGTCACAGCCCTGTGTGTGGCTAATCCTGGACAGAAATCTAGAAGAAGTCAGCTACTTCTGGGGCGTGGCTCACCCAGTGGGCTTCAGGTTAGATATTTCTTATACTTATGAGGCTGGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGTGGATTGCTTGGGCTCAGGAGTTCGAGACCAACCTGGGCAACATGGCGAAACCCTGTTTCTAGAAAAGGTACAAAAATTAGCTGGGCAGGTGGCACGTGCCTGTGGTACCAGCTACTTGAGGGCCTGAGGCAGGAGGATCGCTTGAACCTGGGAGGTCGAGGTTGCAGTGAACTGAGATCATGTCACTGCACTCCAGCCTGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAAAAAAGAAAGAAAAAAATTCTTATGCATAGATTTGCCTCTTTTCTGTTTGTTTGTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGCTCAACCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGACTGGGTTTCATCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCAGGCCCAGGCCGCAAGGCGATCTCTAAACAAACATAAAAGACCAGGAGTCAAGGTTATGGTACGATGCCCGTGTTTTCACTCCAGCCACGGAGCTGGGTCTCTGGTCTCGGGGGCAGCTGTGTGACAGAGCGTGCCTCTCCCTACAGTGCTCCTCGTCTTCCTTTGCCTGGGGGTCTTCCTTCTATGGAAGAACTGGCGGCTTAAGAACATCAACAGCATCAACTTTGACAACCCCGTCTATCAGAAGACCACAGAGGATGAGGTCCACATTTGCCACAACCAGGACGGCTACAGCTACCCCTCGGTGAGTGACCCTCTCTAGAAAGCCAGAGCCCATGGCGGCCCCCTCCCAGCTGGAGGCATATGATCCTCAAGGGACCAGGCCGAGGCTTCCCCAGCCCTCCAGATCGAGGACAGCATTAGGTGAATGCTTCTGTGCGCTCATTCAGAATGTCAGCGGACAATGGCCTTGGTGGTGTAGAGGAATGTTGGATAAGCAAATAGAGAGCTCCATCAGATGGTGACAGGGCAAAGAAAGTCAAAAGGAGTTCAGAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGGACTTTGGGAGGCCGAGGCTGGCGGATCACCTGAAGTCAGGAGTTTGAGACCAGCTTGGCCATCATGACAAAACCCCGTCTCTATTAAAAATACAAAAAATTAGCCAGGCGTGGGAGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCCGAGGTAGAAAAATCGCTTGAACCTAGGAGGCA | benign | 298,765 |
A mutation at chromosome position 11129514 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'] | CTTAGGTGATCTGCCCGCCTTAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGCGCCCAGACCAAAATATGCTCATTTTAATAAAATGCACAAGTAGGTTGACAAGAATTTCACCTGCAACCTTGTCAACCACCTAGAATAAAAGCCTCTGCAGCCCTCCCCTAAAGACTCATCAATGTGAGGCTCAAGAACCTTCTTAGGCTGGGCTCGGTGGCTCATTTCTGTAATCCCTGCACTTTGGAAGGCTGAGGCAGGAGGATCTCTTGAGGCCAGGAGTTCAAGACAAGCCTGGGCAACATAGCCAGACCTCTGTTTCTATCCCCCACAAAAAGAACCTTCTTAAACCGGAATTGAGTCCTACAACCTCGATAACTCACAAATAAGCCCGTGTGGCCTCTCACAGACTTGGGAAGTTCTCCAAGTGTCCAGGGAGATGTGCCAGGCGCTTTCCTGCCGTGACCACCGTCCTCTGCCTGCTCCATTTCTTGGTGGCCTTCCTTTAGACCTGGGCCTCACTCTTGCTTCTCTCCTGCAGCTCTGGGCGACGTTGCTGGCAGAGGAAATGAGAAGAAGCCCAGTAGCGTGAGGGCTCTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCCCAGCGTCCCCCAGGTCACAGCCTCCCGCTATGTGACCTCGTGCCTGGCTGGTTGGGCCTGTTCACTTTTTCTCCTGGACAGGGAACAGCCCCACTGGTGTCCTTTATCACCCCCACGGCCTCTCCTGGCTTGGGGCTGACAGTGACAAGATCAGACAGCTAAGGGGTCAGATGGAGGATGTGGAGCTGGGTCCCGTGCTGTGGAATAGCCTCACCGAGATTTGAGTGCCTTCTGGGGAACTGGTTCCCTTGCAGGGGGCTGTGTGGAGAGGCGCGCTCTCCCTGCCTCACCCATGCTCATCCTAACTCGGTTACCATCACATCTCTTTTTTCTTTTTTTCTTAAATTTTAAGAAAAAAGAAATTTAATTTTTTTGAGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACCATCATGCCTCGCTGCAGCCTCAATGTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGTGCAAGCCACTATACCCCACTTCCTATTTCTTAAAAAGTCACAGCCCTGTGTGTGGCTAATCCTGGACAGAAATCTAGAAGAAGTCAGCTACTTCTGGGGCGTGGCTCACCCAGTGGGCTTCAGGTTAGATATTTCTTATACTTATGAGGCTGGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGTGGATTGCTTGGGCTCAGGAGTTCGAGACCAACCTGGGCAACATGGCGAAACCCTGTTTCTAGAAAAGGTACAAAAATTAGCTGGGCAGGTGGCACGTGCCTGTGGTACCAGCTACTTGAGGGCCTGAGGCAGGAGGATCGCTTGAACCTGGGAGGTCGAGGTTGCAGTGAACTGAGATCATGTCACTGCACTCCAGCCTGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAAAAAAGAAAGAAAAAAATTCTTATGCATAGATTTGCCTCTTTTCTGTTTGTTTGTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGCTCAACCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGACTGGGTTTCATCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCAGGCCCAGGCCGCAAGGCGATCTCTAAACAAACATAAAAGACCAGGAGTCAAGGTTATGGTACGATGCCCGTGTTTTCACTCCAGCCACGGAGCTGGGTCTCTGGTCTCGGGGGCAGCTGTGTGACAGAGCGTGCCTCTCCCTACAGTGCTCCTCGTCTTCCTTTGCCTGGGGGTCTTCCTTCTATGGAAGAACTGGCGGCTTAAGAACATCAACAGCATCAACTTTGACAACCCCGTCTATCAGAAGACCACAGAGGATGAGGTCCACATTTGCCACAACCAGGACGGCTACAGCTACCCCTCGGTGAGTGACCCTCTCTAGAAAGCCAGAGCCCATGGCGGCCCCCTCCCAGCTGGAGGCATATGATCCTCAAGGGACCAGGCCGAGGCTTCCCCAGCCCTCCAGATCGAGGACAGCATTAGGTGAATGCTTCTGTGCGCTCATTCAGAATGTCAGCGGACAATGGCCTTGGTGGTGTAGAGGAATGTTGGATAAGCAAATAGAGAGCTCCATCAGATGGTGACAGGGCAAAGAAAGTCAAAAGGAGTTCAGAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGGACTTTGGGAGGCCGAGGCTGGCGGATCACCTGAAGTCAGGAGTTTGAGACCAGCTTGGCCATCATGACAAAACCCCGTCTCTATTAAAAATACAAAAAATTAGCCAGGCGTGGGAGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCCGAGGTAGAAAAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCCGGGAGGCAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGGAGTTCAGAGGCCCGGCATGGTGGTTCACACATGTGATCCCAGAACTTGGGGAGGTTGAGGCAGGAGAATCACCTGAGCTCAGAGTTCAAGACCAGCCTGGGCAGCACAGCAAGACCCCATCTCTGCAAAAAATAAAAATTTAGCCCAGTGTGGTGATGAGCGCCTAGTTCCAGCTACTAGGGAGGCTAAGGCAGGAGGATTGCTTGAGGCTAAGGTAGGAGATTGAGACTGCAGTGACTTGTGATTGCGTCACTGCGCTCCAGCCTGGGTGACAGAGCAAGCCCTTGTCTCTTAAAAAAAAAAAAAAATTCAAAGAAGGGTTTCCAGAGGGCCAGGAGGGAGGAAGGGAGAGGAGGTGTTTTATTTTTTTGCTTTTATTTTTTATTTTGAGACAGAGTCTCTCTCTGTCACCCAGGTTGGAGTGCAGTGCTGTGATCTTGGCTCACTGCAACTTCTGCCTCCTGGGTTCAAGCAATTCTTATGCCTCAGCCTCAGCCTCCTGAGTAGCTGGGATTACAACACTATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCGCCATGTTGCCCAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCCACGTGCTGGGATTGCAGGCGTGAGCCACTGCGCCCGCCTTGATCTTTACACAAGGGGTTTAGGGTAGGTAGCCTTCTCTGAACCAGGAGAACAGCCTGTGCGAAGGCCCTGAGGCTGGACCGTGCCTGTTGGGTTTGAGGCCGTTGTAGCTGGAGCAAACAGAGAGAGGGGTAAAAAGGCAGGAGGCTACCAGGCAGGTTGTGCAGAGCCTTGTGGGCCACTGGGGAGGACTTTGGCTTTTGCCCTGAGAGCGGTGGGAAGTGACTGAATCCGGTACTCACCGTCTCCCTCTGGCGGCTCCTGGGGGAACATGCTTGGGGATCAGGCTGGGGGAGGCTGCCAGGCCCAGGAGGTGAGAAGTAGGTGGCCTCCAGCCGTGTTTCCTGAATGCTGGACTGATAGTTTCCGCTGTTTACCATTTGTTGGCAGAGACAGATGGTCAGTCTGGAGGATGACGTGGCGTGAACATCTGCCTGGAGTCCCGTCCCTGCCCAGAACCCTTCCTGAGACCTCGCCGGCCTTGTTTTATTCAAAGACAGAGAAGACCAAAGCATTGCCTGCCAGAGCTTTGTTTTATATATTTATTCATCTGGGAGGCAGAACAGGCTTCGGACAGTGCCCATGCAATGGCTTGGGTTGGGATTTTGGTTTCTTCCTTTCCTCGTGAAGGATAAGAGAAACAGGCCCGGGGGGACCAGGATGACACCTCC | CTTAGGTGATCTGCCCGCCTTAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGCGCCCAGACCAAAATATGCTCATTTTAATAAAATGCACAAGTAGGTTGACAAGAATTTCACCTGCAACCTTGTCAACCACCTAGAATAAAAGCCTCTGCAGCCCTCCCCTAAAGACTCATCAATGTGAGGCTCAAGAACCTTCTTAGGCTGGGCTCGGTGGCTCATTTCTGTAATCCCTGCACTTTGGAAGGCTGAGGCAGGAGGATCTCTTGAGGCCAGGAGTTCAAGACAAGCCTGGGCAACATAGCCAGACCTCTGTTTCTATCCCCCACAAAAAGAACCTTCTTAAACCGGAATTGAGTCCTACAACCTCGATAACTCACAAATAAGCCCGTGTGGCCTCTCACAGACTTGGGAAGTTCTCCAAGTGTCCAGGGAGATGTGCCAGGCGCTTTCCTGCCGTGACCACCGTCCTCTGCCTGCTCCATTTCTTGGTGGCCTTCCTTTAGACCTGGGCCTCACTCTTGCTTCTCTCCTGCAGCTCTGGGCGACGTTGCTGGCAGAGGAAATGAGAAGAAGCCCAGTAGCGTGAGGGCTCTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCCCAGCGTCCCCCAGGTCACAGCCTCCCGCTATGTGACCTCGTGCCTGGCTGGTTGGGCCTGTTCACTTTTTCTCCTGGACAGGGAACAGCCCCACTGGTGTCCTTTATCACCCCCACGGCCTCTCCTGGCTTGGGGCTGACAGTGACAAGATCAGACAGCTAAGGGGTCAGATGGAGGATGTGGAGCTGGGTCCCGTGCTGTGGAATAGCCTCACCGAGATTTGAGTGCCTTCTGGGGAACTGGTTCCCTTGCAGGGGGCTGTGTGGAGAGGCGCGCTCTCCCTGCCTCACCCATGCTCATCCTAACTCGGTTACCATCACATCTCTTTTTTCTTTTTTTCTTAAATTTTAAGAAAAAAGAAATTTAATTTTTTTGAGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACCATCATGCCTCGCTGCAGCCTCAATGTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGTGCAAGCCACTATACCCCACTTCCTATTTCTTAAAAAGTCACAGCCCTGTGTGTGGCTAATCCTGGACAGAAATCTAGAAGAAGTCAGCTACTTCTGGGGCGTGGCTCACCCAGTGGGCTTCAGGTTAGATATTTCTTATACTTATGAGGCTGGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGTGGATTGCTTGGGCTCAGGAGTTCGAGACCAACCTGGGCAACATGGCGAAACCCTGTTTCTAGAAAAGGTACAAAAATTAGCTGGGCAGGTGGCACGTGCCTGTGGTACCAGCTACTTGAGGGCCTGAGGCAGGAGGATCGCTTGAACCTGGGAGGTCGAGGTTGCAGTGAACTGAGATCATGTCACTGCACTCCAGCCTGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAAAAAAGAAAGAAAAAAATTCTTATGCATAGATTTGCCTCTTTTCTGTTTGTTTGTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGCTCAACCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGACTGGGTTTCATCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCAGGCCCAGGCCGCAAGGCGATCTCTAAACAAACATAAAAGACCAGGAGTCAAGGTTATGGTACGATGCCCGTGTTTTCACTCCAGCCACGGAGCTGGGTCTCTGGTCTCGGGGGCAGCTGTGTGACAGAGCGTGCCTCTCCCTACAGTGTTCCTTTGCCTGGGGGTCTTCCTTCTATGGAAGAACTGGCGGCTTAAGAACATCAACAGCATCAACTTTGACAACCCCGTCTATCAGAAGACCACAGAGGATGAGGTCCACATTTGCCACAACCAGGACGGCTACAGCTACCCCTCGGTGAGTGACCCTCTCTAGAAAGCCAGAGCCCATGGCGGCCCCCTCCCAGCTGGAGGCATATGATCCTCAAGGGACCAGGCCGAGGCTTCCCCAGCCCTCCAGATCGAGGACAGCATTAGGTGAATGCTTCTGTGCGCTCATTCAGAATGTCAGCGGACAATGGCCTTGGTGGTGTAGAGGAATGTTGGATAAGCAAATAGAGAGCTCCATCAGATGGTGACAGGGCAAAGAAAGTCAAAAGGAGTTCAGAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGGACTTTGGGAGGCCGAGGCTGGCGGATCACCTGAAGTCAGGAGTTTGAGACCAGCTTGGCCATCATGACAAAACCCCGTCTCTATTAAAAATACAAAAAATTAGCCAGGCGTGGGAGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCCGAGGTAGAAAAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCCGGGAGGCAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGGAGTTCAGAGGCCCGGCATGGTGGTTCACACATGTGATCCCAGAACTTGGGGAGGTTGAGGCAGGAGAATCACCTGAGCTCAGAGTTCAAGACCAGCCTGGGCAGCACAGCAAGACCCCATCTCTGCAAAAAATAAAAATTTAGCCCAGTGTGGTGATGAGCGCCTAGTTCCAGCTACTAGGGAGGCTAAGGCAGGAGGATTGCTTGAGGCTAAGGTAGGAGATTGAGACTGCAGTGACTTGTGATTGCGTCACTGCGCTCCAGCCTGGGTGACAGAGCAAGCCCTTGTCTCTTAAAAAAAAAAAAAAATTCAAAGAAGGGTTTCCAGAGGGCCAGGAGGGAGGAAGGGAGAGGAGGTGTTTTATTTTTTTGCTTTTATTTTTTATTTTGAGACAGAGTCTCTCTCTGTCACCCAGGTTGGAGTGCAGTGCTGTGATCTTGGCTCACTGCAACTTCTGCCTCCTGGGTTCAAGCAATTCTTATGCCTCAGCCTCAGCCTCCTGAGTAGCTGGGATTACAACACTATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCGCCATGTTGCCCAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCCACGTGCTGGGATTGCAGGCGTGAGCCACTGCGCCCGCCTTGATCTTTACACAAGGGGTTTAGGGTAGGTAGCCTTCTCTGAACCAGGAGAACAGCCTGTGCGAAGGCCCTGAGGCTGGACCGTGCCTGTTGGGTTTGAGGCCGTTGTAGCTGGAGCAAACAGAGAGAGGGGTAAAAAGGCAGGAGGCTACCAGGCAGGTTGTGCAGAGCCTTGTGGGCCACTGGGGAGGACTTTGGCTTTTGCCCTGAGAGCGGTGGGAAGTGACTGAATCCGGTACTCACCGTCTCCCTCTGGCGGCTCCTGGGGGAACATGCTTGGGGATCAGGCTGGGGGAGGCTGCCAGGCCCAGGAGGTGAGAAGTAGGTGGCCTCCAGCCGTGTTTCCTGAATGCTGGACTGATAGTTTCCGCTGTTTACCATTTGTTGGCAGAGACAGATGGTCAGTCTGGAGGATGACGTGGCGTGAACATCTGCCTGGAGTCCCGTCCCTGCCCAGAACCCTTCCTGAGACCTCGCCGGCCTTGTTTTATTCAAAGACAGAGAAGACCAAAGCATTGCCTGCCAGAGCTTTGTTTTATATATTTATTCATCTGGGAGGCAGAACAGGCTTCGGACAGTGCCCATGCAATGGCTTGGGTTGGGATTTTGGTTTCTTCCTTTCCTCGTGAAGGATAAGAGAAACAGGCCCGGGGGGACCAGGATGACACCTCCNNNNNNNNN | pathogenic | 298,776 |
Variant in LDLR (low density lipoprotein receptor), chromosome 19, position 11129519—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GTGATCTGCCCGCCTTAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGCGCCCAGACCAAAATATGCTCATTTTAATAAAATGCACAAGTAGGTTGACAAGAATTTCACCTGCAACCTTGTCAACCACCTAGAATAAAAGCCTCTGCAGCCCTCCCCTAAAGACTCATCAATGTGAGGCTCAAGAACCTTCTTAGGCTGGGCTCGGTGGCTCATTTCTGTAATCCCTGCACTTTGGAAGGCTGAGGCAGGAGGATCTCTTGAGGCCAGGAGTTCAAGACAAGCCTGGGCAACATAGCCAGACCTCTGTTTCTATCCCCCACAAAAAGAACCTTCTTAAACCGGAATTGAGTCCTACAACCTCGATAACTCACAAATAAGCCCGTGTGGCCTCTCACAGACTTGGGAAGTTCTCCAAGTGTCCAGGGAGATGTGCCAGGCGCTTTCCTGCCGTGACCACCGTCCTCTGCCTGCTCCATTTCTTGGTGGCCTTCCTTTAGACCTGGGCCTCACTCTTGCTTCTCTCCTGCAGCTCTGGGCGACGTTGCTGGCAGAGGAAATGAGAAGAAGCCCAGTAGCGTGAGGGCTCTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCCCAGCGTCCCCCAGGTCACAGCCTCCCGCTATGTGACCTCGTGCCTGGCTGGTTGGGCCTGTTCACTTTTTCTCCTGGACAGGGAACAGCCCCACTGGTGTCCTTTATCACCCCCACGGCCTCTCCTGGCTTGGGGCTGACAGTGACAAGATCAGACAGCTAAGGGGTCAGATGGAGGATGTGGAGCTGGGTCCCGTGCTGTGGAATAGCCTCACCGAGATTTGAGTGCCTTCTGGGGAACTGGTTCCCTTGCAGGGGGCTGTGTGGAGAGGCGCGCTCTCCCTGCCTCACCCATGCTCATCCTAACTCGGTTACCATCACATCTCTTTTTTCTTTTTTTCTTAAATTTTAAGAAAAAAGAAATTTAATTTTTTTGAGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACCATCATGCCTCGCTGCAGCCTCAATGTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGTGCAAGCCACTATACCCCACTTCCTATTTCTTAAAAAGTCACAGCCCTGTGTGTGGCTAATCCTGGACAGAAATCTAGAAGAAGTCAGCTACTTCTGGGGCGTGGCTCACCCAGTGGGCTTCAGGTTAGATATTTCTTATACTTATGAGGCTGGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGTGGATTGCTTGGGCTCAGGAGTTCGAGACCAACCTGGGCAACATGGCGAAACCCTGTTTCTAGAAAAGGTACAAAAATTAGCTGGGCAGGTGGCACGTGCCTGTGGTACCAGCTACTTGAGGGCCTGAGGCAGGAGGATCGCTTGAACCTGGGAGGTCGAGGTTGCAGTGAACTGAGATCATGTCACTGCACTCCAGCCTGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAAAAAAGAAAGAAAAAAATTCTTATGCATAGATTTGCCTCTTTTCTGTTTGTTTGTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGCTCAACCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGACTGGGTTTCATCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCAGGCCCAGGCCGCAAGGCGATCTCTAAACAAACATAAAAGACCAGGAGTCAAGGTTATGGTACGATGCCCGTGTTTTCACTCCAGCCACGGAGCTGGGTCTCTGGTCTCGGGGGCAGCTGTGTGACAGAGCGTGCCTCTCCCTACAGTGCTCCTCGTCTTCCTTTGCCTGGGGGTCTTCCTTCTATGGAAGAACTGGCGGCTTAAGAACATCAACAGCATCAACTTTGACAACCCCGTCTATCAGAAGACCACAGAGGATGAGGTCCACATTTGCCACAACCAGGACGGCTACAGCTACCCCTCGGTGAGTGACCCTCTCTAGAAAGCCAGAGCCCATGGCGGCCCCCTCCCAGCTGGAGGCATATGATCCTCAAGGGACCAGGCCGAGGCTTCCCCAGCCCTCCAGATCGAGGACAGCATTAGGTGAATGCTTCTGTGCGCTCATTCAGAATGTCAGCGGACAATGGCCTTGGTGGTGTAGAGGAATGTTGGATAAGCAAATAGAGAGCTCCATCAGATGGTGACAGGGCAAAGAAAGTCAAAAGGAGTTCAGAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGGACTTTGGGAGGCCGAGGCTGGCGGATCACCTGAAGTCAGGAGTTTGAGACCAGCTTGGCCATCATGACAAAACCCCGTCTCTATTAAAAATACAAAAAATTAGCCAGGCGTGGGAGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCCGAGGTAGAAAAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCCGGGAGGCAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGGAGTTCAGAGGCCCGGCATGGTGGTTCACACATGTGATCCCAGAACTTGGGGAGGTTGAGGCAGGAGAATCACCTGAGCTCAGAGTTCAAGACCAGCCTGGGCAGCACAGCAAGACCCCATCTCTGCAAAAAATAAAAATTTAGCCCAGTGTGGTGATGAGCGCCTAGTTCCAGCTACTAGGGAGGCTAAGGCAGGAGGATTGCTTGAGGCTAAGGTAGGAGATTGAGACTGCAGTGACTTGTGATTGCGTCACTGCGCTCCAGCCTGGGTGACAGAGCAAGCCCTTGTCTCTTAAAAAAAAAAAAAAATTCAAAGAAGGGTTTCCAGAGGGCCAGGAGGGAGGAAGGGAGAGGAGGTGTTTTATTTTTTTGCTTTTATTTTTTATTTTGAGACAGAGTCTCTCTCTGTCACCCAGGTTGGAGTGCAGTGCTGTGATCTTGGCTCACTGCAACTTCTGCCTCCTGGGTTCAAGCAATTCTTATGCCTCAGCCTCAGCCTCCTGAGTAGCTGGGATTACAACACTATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCGCCATGTTGCCCAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCCACGTGCTGGGATTGCAGGCGTGAGCCACTGCGCCCGCCTTGATCTTTACACAAGGGGTTTAGGGTAGGTAGCCTTCTCTGAACCAGGAGAACAGCCTGTGCGAAGGCCCTGAGGCTGGACCGTGCCTGTTGGGTTTGAGGCCGTTGTAGCTGGAGCAAACAGAGAGAGGGGTAAAAAGGCAGGAGGCTACCAGGCAGGTTGTGCAGAGCCTTGTGGGCCACTGGGGAGGACTTTGGCTTTTGCCCTGAGAGCGGTGGGAAGTGACTGAATCCGGTACTCACCGTCTCCCTCTGGCGGCTCCTGGGGGAACATGCTTGGGGATCAGGCTGGGGGAGGCTGCCAGGCCCAGGAGGTGAGAAGTAGGTGGCCTCCAGCCGTGTTTCCTGAATGCTGGACTGATAGTTTCCGCTGTTTACCATTTGTTGGCAGAGACAGATGGTCAGTCTGGAGGATGACGTGGCGTGAACATCTGCCTGGAGTCCCGTCCCTGCCCAGAACCCTTCCTGAGACCTCGCCGGCCTTGTTTTATTCAAAGACAGAGAAGACCAAAGCATTGCCTGCCAGAGCTTTGTTTTATATATTTATTCATCTGGGAGGCAGAACAGGCTTCGGACAGTGCCCATGCAATGGCTTGGGTTGGGATTTTGGTTTCTTCCTTTCCTCGTGAAGGATAAGAGAAACAGGCCCGGGGGGACCAGGATGACACCTCCATTTC | GTGATCTGCCCGCCTTAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGCGCCCAGACCAAAATATGCTCATTTTAATAAAATGCACAAGTAGGTTGACAAGAATTTCACCTGCAACCTTGTCAACCACCTAGAATAAAAGCCTCTGCAGCCCTCCCCTAAAGACTCATCAATGTGAGGCTCAAGAACCTTCTTAGGCTGGGCTCGGTGGCTCATTTCTGTAATCCCTGCACTTTGGAAGGCTGAGGCAGGAGGATCTCTTGAGGCCAGGAGTTCAAGACAAGCCTGGGCAACATAGCCAGACCTCTGTTTCTATCCCCCACAAAAAGAACCTTCTTAAACCGGAATTGAGTCCTACAACCTCGATAACTCACAAATAAGCCCGTGTGGCCTCTCACAGACTTGGGAAGTTCTCCAAGTGTCCAGGGAGATGTGCCAGGCGCTTTCCTGCCGTGACCACCGTCCTCTGCCTGCTCCATTTCTTGGTGGCCTTCCTTTAGACCTGGGCCTCACTCTTGCTTCTCTCCTGCAGCTCTGGGCGACGTTGCTGGCAGAGGAAATGAGAAGAAGCCCAGTAGCGTGAGGGCTCTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCCCAGCGTCCCCCAGGTCACAGCCTCCCGCTATGTGACCTCGTGCCTGGCTGGTTGGGCCTGTTCACTTTTTCTCCTGGACAGGGAACAGCCCCACTGGTGTCCTTTATCACCCCCACGGCCTCTCCTGGCTTGGGGCTGACAGTGACAAGATCAGACAGCTAAGGGGTCAGATGGAGGATGTGGAGCTGGGTCCCGTGCTGTGGAATAGCCTCACCGAGATTTGAGTGCCTTCTGGGGAACTGGTTCCCTTGCAGGGGGCTGTGTGGAGAGGCGCGCTCTCCCTGCCTCACCCATGCTCATCCTAACTCGGTTACCATCACATCTCTTTTTTCTTTTTTTCTTAAATTTTAAGAAAAAAGAAATTTAATTTTTTTGAGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACCATCATGCCTCGCTGCAGCCTCAATGTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGTGCAAGCCACTATACCCCACTTCCTATTTCTTAAAAAGTCACAGCCCTGTGTGTGGCTAATCCTGGACAGAAATCTAGAAGAAGTCAGCTACTTCTGGGGCGTGGCTCACCCAGTGGGCTTCAGGTTAGATATTTCTTATACTTATGAGGCTGGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGTGGATTGCTTGGGCTCAGGAGTTCGAGACCAACCTGGGCAACATGGCGAAACCCTGTTTCTAGAAAAGGTACAAAAATTAGCTGGGCAGGTGGCACGTGCCTGTGGTACCAGCTACTTGAGGGCCTGAGGCAGGAGGATCGCTTGAACCTGGGAGGTCGAGGTTGCAGTGAACTGAGATCATGTCACTGCACTCCAGCCTGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAAAAAAGAAAGAAAAAAATTCTTATGCATAGATTTGCCTCTTTTCTGTTTGTTTGTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGCTCAACCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGACTGGGTTTCATCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCAGGCCCAGGCCGCAAGGCGATCTCTAAACAAACATAAAAGACCAGGAGTCAAGGTTATGGTACGATGCCCGTGTTTTCACTCCAGCCACGGAGCTGGGTCTCTGGTCTCGGGGGCAGCTGTGTGACAGAGCGTGCCTCTCCCTACAGTGCTCCTGGGGTCTTCCTTCTATGGAAGAACTGGCGGCTTAAGAACATCAACAGCATCAACTTTGACAACCCCGTCTATCAGAAGACCACAGAGGATGAGGTCCACATTTGCCACAACCAGGACGGCTACAGCTACCCCTCGGTGAGTGACCCTCTCTAGAAAGCCAGAGCCCATGGCGGCCCCCTCCCAGCTGGAGGCATATGATCCTCAAGGGACCAGGCCGAGGCTTCCCCAGCCCTCCAGATCGAGGACAGCATTAGGTGAATGCTTCTGTGCGCTCATTCAGAATGTCAGCGGACAATGGCCTTGGTGGTGTAGAGGAATGTTGGATAAGCAAATAGAGAGCTCCATCAGATGGTGACAGGGCAAAGAAAGTCAAAAGGAGTTCAGAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGGACTTTGGGAGGCCGAGGCTGGCGGATCACCTGAAGTCAGGAGTTTGAGACCAGCTTGGCCATCATGACAAAACCCCGTCTCTATTAAAAATACAAAAAATTAGCCAGGCGTGGGAGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCCGAGGTAGAAAAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCCGGGAGGCAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGGAGTTCAGAGGCCCGGCATGGTGGTTCACACATGTGATCCCAGAACTTGGGGAGGTTGAGGCAGGAGAATCACCTGAGCTCAGAGTTCAAGACCAGCCTGGGCAGCACAGCAAGACCCCATCTCTGCAAAAAATAAAAATTTAGCCCAGTGTGGTGATGAGCGCCTAGTTCCAGCTACTAGGGAGGCTAAGGCAGGAGGATTGCTTGAGGCTAAGGTAGGAGATTGAGACTGCAGTGACTTGTGATTGCGTCACTGCGCTCCAGCCTGGGTGACAGAGCAAGCCCTTGTCTCTTAAAAAAAAAAAAAAATTCAAAGAAGGGTTTCCAGAGGGCCAGGAGGGAGGAAGGGAGAGGAGGTGTTTTATTTTTTTGCTTTTATTTTTTATTTTGAGACAGAGTCTCTCTCTGTCACCCAGGTTGGAGTGCAGTGCTGTGATCTTGGCTCACTGCAACTTCTGCCTCCTGGGTTCAAGCAATTCTTATGCCTCAGCCTCAGCCTCCTGAGTAGCTGGGATTACAACACTATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCGCCATGTTGCCCAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCCACGTGCTGGGATTGCAGGCGTGAGCCACTGCGCCCGCCTTGATCTTTACACAAGGGGTTTAGGGTAGGTAGCCTTCTCTGAACCAGGAGAACAGCCTGTGCGAAGGCCCTGAGGCTGGACCGTGCCTGTTGGGTTTGAGGCCGTTGTAGCTGGAGCAAACAGAGAGAGGGGTAAAAAGGCAGGAGGCTACCAGGCAGGTTGTGCAGAGCCTTGTGGGCCACTGGGGAGGACTTTGGCTTTTGCCCTGAGAGCGGTGGGAAGTGACTGAATCCGGTACTCACCGTCTCCCTCTGGCGGCTCCTGGGGGAACATGCTTGGGGATCAGGCTGGGGGAGGCTGCCAGGCCCAGGAGGTGAGAAGTAGGTGGCCTCCAGCCGTGTTTCCTGAATGCTGGACTGATAGTTTCCGCTGTTTACCATTTGTTGGCAGAGACAGATGGTCAGTCTGGAGGATGACGTGGCGTGAACATCTGCCTGGAGTCCCGTCCCTGCCCAGAACCCTTCCTGAGACCTCGCCGGCCTTGTTTTATTCAAAGACAGAGAAGACCAAAGCATTGCCTGCCAGAGCTTTGTTTTATATATTTATTCATCTGGGAGGCAGAACAGGCTTCGGACAGTGCCCATGCAATGGCTTGGGTTGGGATTTTGGTTTCTTCCTTTCCTCGTGAAGGATAAGAGAAACAGGCCCGGGGGGACCAGGATGACACCTCCATTTCNNNNNNNNNNNNNNNN | pathogenic | 298,778 |
Gene LDLR (low density lipoprotein receptor) variant at chromosome 19, position 11129522—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | ATCTGCCCGCCTTAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGCGCCCAGACCAAAATATGCTCATTTTAATAAAATGCACAAGTAGGTTGACAAGAATTTCACCTGCAACCTTGTCAACCACCTAGAATAAAAGCCTCTGCAGCCCTCCCCTAAAGACTCATCAATGTGAGGCTCAAGAACCTTCTTAGGCTGGGCTCGGTGGCTCATTTCTGTAATCCCTGCACTTTGGAAGGCTGAGGCAGGAGGATCTCTTGAGGCCAGGAGTTCAAGACAAGCCTGGGCAACATAGCCAGACCTCTGTTTCTATCCCCCACAAAAAGAACCTTCTTAAACCGGAATTGAGTCCTACAACCTCGATAACTCACAAATAAGCCCGTGTGGCCTCTCACAGACTTGGGAAGTTCTCCAAGTGTCCAGGGAGATGTGCCAGGCGCTTTCCTGCCGTGACCACCGTCCTCTGCCTGCTCCATTTCTTGGTGGCCTTCCTTTAGACCTGGGCCTCACTCTTGCTTCTCTCCTGCAGCTCTGGGCGACGTTGCTGGCAGAGGAAATGAGAAGAAGCCCAGTAGCGTGAGGGCTCTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCCCAGCGTCCCCCAGGTCACAGCCTCCCGCTATGTGACCTCGTGCCTGGCTGGTTGGGCCTGTTCACTTTTTCTCCTGGACAGGGAACAGCCCCACTGGTGTCCTTTATCACCCCCACGGCCTCTCCTGGCTTGGGGCTGACAGTGACAAGATCAGACAGCTAAGGGGTCAGATGGAGGATGTGGAGCTGGGTCCCGTGCTGTGGAATAGCCTCACCGAGATTTGAGTGCCTTCTGGGGAACTGGTTCCCTTGCAGGGGGCTGTGTGGAGAGGCGCGCTCTCCCTGCCTCACCCATGCTCATCCTAACTCGGTTACCATCACATCTCTTTTTTCTTTTTTTCTTAAATTTTAAGAAAAAAGAAATTTAATTTTTTTGAGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACCATCATGCCTCGCTGCAGCCTCAATGTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGTGCAAGCCACTATACCCCACTTCCTATTTCTTAAAAAGTCACAGCCCTGTGTGTGGCTAATCCTGGACAGAAATCTAGAAGAAGTCAGCTACTTCTGGGGCGTGGCTCACCCAGTGGGCTTCAGGTTAGATATTTCTTATACTTATGAGGCTGGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGTGGATTGCTTGGGCTCAGGAGTTCGAGACCAACCTGGGCAACATGGCGAAACCCTGTTTCTAGAAAAGGTACAAAAATTAGCTGGGCAGGTGGCACGTGCCTGTGGTACCAGCTACTTGAGGGCCTGAGGCAGGAGGATCGCTTGAACCTGGGAGGTCGAGGTTGCAGTGAACTGAGATCATGTCACTGCACTCCAGCCTGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAAAAAAGAAAGAAAAAAATTCTTATGCATAGATTTGCCTCTTTTCTGTTTGTTTGTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGCTCAACCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGACTGGGTTTCATCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCAGGCCCAGGCCGCAAGGCGATCTCTAAACAAACATAAAAGACCAGGAGTCAAGGTTATGGTACGATGCCCGTGTTTTCACTCCAGCCACGGAGCTGGGTCTCTGGTCTCGGGGGCAGCTGTGTGACAGAGCGTGCCTCTCCCTACAGTGCTCCTCGTCTTCCTTTGCCTGGGGGTCTTCCTTCTATGGAAGAACTGGCGGCTTAAGAACATCAACAGCATCAACTTTGACAACCCCGTCTATCAGAAGACCACAGAGGATGAGGTCCACATTTGCCACAACCAGGACGGCTACAGCTACCCCTCGGTGAGTGACCCTCTCTAGAAAGCCAGAGCCCATGGCGGCCCCCTCCCAGCTGGAGGCATATGATCCTCAAGGGACCAGGCCGAGGCTTCCCCAGCCCTCCAGATCGAGGACAGCATTAGGTGAATGCTTCTGTGCGCTCATTCAGAATGTCAGCGGACAATGGCCTTGGTGGTGTAGAGGAATGTTGGATAAGCAAATAGAGAGCTCCATCAGATGGTGACAGGGCAAAGAAAGTCAAAAGGAGTTCAGAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGGACTTTGGGAGGCCGAGGCTGGCGGATCACCTGAAGTCAGGAGTTTGAGACCAGCTTGGCCATCATGACAAAACCCCGTCTCTATTAAAAATACAAAAAATTAGCCAGGCGTGGGAGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCCGAGGTAGAAAAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCCGGGAGGCAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGGAGTTCAGAGGCCCGGCATGGTGGTTCACACATGTGATCCCAGAACTTGGGGAGGTTGAGGCAGGAGAATCACCTGAGCTCAGAGTTCAAGACCAGCCTGGGCAGCACAGCAAGACCCCATCTCTGCAAAAAATAAAAATTTAGCCCAGTGTGGTGATGAGCGCCTAGTTCCAGCTACTAGGGAGGCTAAGGCAGGAGGATTGCTTGAGGCTAAGGTAGGAGATTGAGACTGCAGTGACTTGTGATTGCGTCACTGCGCTCCAGCCTGGGTGACAGAGCAAGCCCTTGTCTCTTAAAAAAAAAAAAAAATTCAAAGAAGGGTTTCCAGAGGGCCAGGAGGGAGGAAGGGAGAGGAGGTGTTTTATTTTTTTGCTTTTATTTTTTATTTTGAGACAGAGTCTCTCTCTGTCACCCAGGTTGGAGTGCAGTGCTGTGATCTTGGCTCACTGCAACTTCTGCCTCCTGGGTTCAAGCAATTCTTATGCCTCAGCCTCAGCCTCCTGAGTAGCTGGGATTACAACACTATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCGCCATGTTGCCCAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCCACGTGCTGGGATTGCAGGCGTGAGCCACTGCGCCCGCCTTGATCTTTACACAAGGGGTTTAGGGTAGGTAGCCTTCTCTGAACCAGGAGAACAGCCTGTGCGAAGGCCCTGAGGCTGGACCGTGCCTGTTGGGTTTGAGGCCGTTGTAGCTGGAGCAAACAGAGAGAGGGGTAAAAAGGCAGGAGGCTACCAGGCAGGTTGTGCAGAGCCTTGTGGGCCACTGGGGAGGACTTTGGCTTTTGCCCTGAGAGCGGTGGGAAGTGACTGAATCCGGTACTCACCGTCTCCCTCTGGCGGCTCCTGGGGGAACATGCTTGGGGATCAGGCTGGGGGAGGCTGCCAGGCCCAGGAGGTGAGAAGTAGGTGGCCTCCAGCCGTGTTTCCTGAATGCTGGACTGATAGTTTCCGCTGTTTACCATTTGTTGGCAGAGACAGATGGTCAGTCTGGAGGATGACGTGGCGTGAACATCTGCCTGGAGTCCCGTCCCTGCCCAGAACCCTTCCTGAGACCTCGCCGGCCTTGTTTTATTCAAAGACAGAGAAGACCAAAGCATTGCCTGCCAGAGCTTTGTTTTATATATTTATTCATCTGGGAGGCAGAACAGGCTTCGGACAGTGCCCATGCAATGGCTTGGGTTGGGATTTTGGTTTCTTCCTTTCCTCGTGAAGGATAAGAGAAACAGGCCCGGGGGGACCAGGATGACACCTCCATTTCTCT | ATCTGCCCGCCTTAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGCGCCCAGACCAAAATATGCTCATTTTAATAAAATGCACAAGTAGGTTGACAAGAATTTCACCTGCAACCTTGTCAACCACCTAGAATAAAAGCCTCTGCAGCCCTCCCCTAAAGACTCATCAATGTGAGGCTCAAGAACCTTCTTAGGCTGGGCTCGGTGGCTCATTTCTGTAATCCCTGCACTTTGGAAGGCTGAGGCAGGAGGATCTCTTGAGGCCAGGAGTTCAAGACAAGCCTGGGCAACATAGCCAGACCTCTGTTTCTATCCCCCACAAAAAGAACCTTCTTAAACCGGAATTGAGTCCTACAACCTCGATAACTCACAAATAAGCCCGTGTGGCCTCTCACAGACTTGGGAAGTTCTCCAAGTGTCCAGGGAGATGTGCCAGGCGCTTTCCTGCCGTGACCACCGTCCTCTGCCTGCTCCATTTCTTGGTGGCCTTCCTTTAGACCTGGGCCTCACTCTTGCTTCTCTCCTGCAGCTCTGGGCGACGTTGCTGGCAGAGGAAATGAGAAGAAGCCCAGTAGCGTGAGGGCTCTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCCCAGCGTCCCCCAGGTCACAGCCTCCCGCTATGTGACCTCGTGCCTGGCTGGTTGGGCCTGTTCACTTTTTCTCCTGGACAGGGAACAGCCCCACTGGTGTCCTTTATCACCCCCACGGCCTCTCCTGGCTTGGGGCTGACAGTGACAAGATCAGACAGCTAAGGGGTCAGATGGAGGATGTGGAGCTGGGTCCCGTGCTGTGGAATAGCCTCACCGAGATTTGAGTGCCTTCTGGGGAACTGGTTCCCTTGCAGGGGGCTGTGTGGAGAGGCGCGCTCTCCCTGCCTCACCCATGCTCATCCTAACTCGGTTACCATCACATCTCTTTTTTCTTTTTTTCTTAAATTTTAAGAAAAAAGAAATTTAATTTTTTTGAGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACCATCATGCCTCGCTGCAGCCTCAATGTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGTGCAAGCCACTATACCCCACTTCCTATTTCTTAAAAAGTCACAGCCCTGTGTGTGGCTAATCCTGGACAGAAATCTAGAAGAAGTCAGCTACTTCTGGGGCGTGGCTCACCCAGTGGGCTTCAGGTTAGATATTTCTTATACTTATGAGGCTGGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGTGGATTGCTTGGGCTCAGGAGTTCGAGACCAACCTGGGCAACATGGCGAAACCCTGTTTCTAGAAAAGGTACAAAAATTAGCTGGGCAGGTGGCACGTGCCTGTGGTACCAGCTACTTGAGGGCCTGAGGCAGGAGGATCGCTTGAACCTGGGAGGTCGAGGTTGCAGTGAACTGAGATCATGTCACTGCACTCCAGCCTGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAAAAAAGAAAGAAAAAAATTCTTATGCATAGATTTGCCTCTTTTCTGTTTGTTTGTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGCTCAACCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGACTGGGTTTCATCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCAGGCCCAGGCCGCAAGGCGATCTCTAAACAAACATAAAAGACCAGGAGTCAAGGTTATGGTACGATGCCCGTGTTTTCACTCCAGCCACGGAGCTGGGTCTCTGGTCTCGGGGGCAGCTGTGTGACAGAGCGTGCCTCTCCCTACAGTGCTCCTCGGGGTCTTTGCCTGGGGGTCTTCCTTCTATGGAAGAACTGGCGGCTTAAGAACATCAACAGCATCAACTTTGACAACCCCGTCTATCAGAAGACCACAGAGGATGAGGTCCACATTTGCCACAACCAGGACGGCTACAGCTACCCCTCGGTGAGTGACCCTCTCTAGAAAGCCAGAGCCCATGGCGGCCCCCTCCCAGCTGGAGGCATATGATCCTCAAGGGACCAGGCCGAGGCTTCCCCAGCCCTCCAGATCGAGGACAGCATTAGGTGAATGCTTCTGTGCGCTCATTCAGAATGTCAGCGGACAATGGCCTTGGTGGTGTAGAGGAATGTTGGATAAGCAAATAGAGAGCTCCATCAGATGGTGACAGGGCAAAGAAAGTCAAAAGGAGTTCAGAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGGACTTTGGGAGGCCGAGGCTGGCGGATCACCTGAAGTCAGGAGTTTGAGACCAGCTTGGCCATCATGACAAAACCCCGTCTCTATTAAAAATACAAAAAATTAGCCAGGCGTGGGAGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCCGAGGTAGAAAAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCCGGGAGGCAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGGAGTTCAGAGGCCCGGCATGGTGGTTCACACATGTGATCCCAGAACTTGGGGAGGTTGAGGCAGGAGAATCACCTGAGCTCAGAGTTCAAGACCAGCCTGGGCAGCACAGCAAGACCCCATCTCTGCAAAAAATAAAAATTTAGCCCAGTGTGGTGATGAGCGCCTAGTTCCAGCTACTAGGGAGGCTAAGGCAGGAGGATTGCTTGAGGCTAAGGTAGGAGATTGAGACTGCAGTGACTTGTGATTGCGTCACTGCGCTCCAGCCTGGGTGACAGAGCAAGCCCTTGTCTCTTAAAAAAAAAAAAAAATTCAAAGAAGGGTTTCCAGAGGGCCAGGAGGGAGGAAGGGAGAGGAGGTGTTTTATTTTTTTGCTTTTATTTTTTATTTTGAGACAGAGTCTCTCTCTGTCACCCAGGTTGGAGTGCAGTGCTGTGATCTTGGCTCACTGCAACTTCTGCCTCCTGGGTTCAAGCAATTCTTATGCCTCAGCCTCAGCCTCCTGAGTAGCTGGGATTACAACACTATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCGCCATGTTGCCCAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCCACGTGCTGGGATTGCAGGCGTGAGCCACTGCGCCCGCCTTGATCTTTACACAAGGGGTTTAGGGTAGGTAGCCTTCTCTGAACCAGGAGAACAGCCTGTGCGAAGGCCCTGAGGCTGGACCGTGCCTGTTGGGTTTGAGGCCGTTGTAGCTGGAGCAAACAGAGAGAGGGGTAAAAAGGCAGGAGGCTACCAGGCAGGTTGTGCAGAGCCTTGTGGGCCACTGGGGAGGACTTTGGCTTTTGCCCTGAGAGCGGTGGGAAGTGACTGAATCCGGTACTCACCGTCTCCCTCTGGCGGCTCCTGGGGGAACATGCTTGGGGATCAGGCTGGGGGAGGCTGCCAGGCCCAGGAGGTGAGAAGTAGGTGGCCTCCAGCCGTGTTTCCTGAATGCTGGACTGATAGTTTCCGCTGTTTACCATTTGTTGGCAGAGACAGATGGTCAGTCTGGAGGATGACGTGGCGTGAACATCTGCCTGGAGTCCCGTCCCTGCCCAGAACCCTTCCTGAGACCTCGCCGGCCTTGTTTTATTCAAAGACAGAGAAGACCAAAGCATTGCCTGCCAGAGCTTTGTTTTATATATTTATTCATCTGGGAGGCAGAACAGGCTTCGGACAGTGCCCATGCAATGGCTTGGGTTGGGATTTTGGTTTCTTCCTTTCCTCGTGAAGGATAAGAGAAACAGGCCCGGGGGGACCAGGATGACACCTCCATTTCTCTN | pathogenic | 298,780 |
Determine if the mutation at chromosome 19, position 11129534 in gene LDLR (low density lipoprotein receptor) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Homozygous_familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1', 'LDLR-related_disorder'] | TAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGCGCCCAGACCAAAATATGCTCATTTTAATAAAATGCACAAGTAGGTTGACAAGAATTTCACCTGCAACCTTGTCAACCACCTAGAATAAAAGCCTCTGCAGCCCTCCCCTAAAGACTCATCAATGTGAGGCTCAAGAACCTTCTTAGGCTGGGCTCGGTGGCTCATTTCTGTAATCCCTGCACTTTGGAAGGCTGAGGCAGGAGGATCTCTTGAGGCCAGGAGTTCAAGACAAGCCTGGGCAACATAGCCAGACCTCTGTTTCTATCCCCCACAAAAAGAACCTTCTTAAACCGGAATTGAGTCCTACAACCTCGATAACTCACAAATAAGCCCGTGTGGCCTCTCACAGACTTGGGAAGTTCTCCAAGTGTCCAGGGAGATGTGCCAGGCGCTTTCCTGCCGTGACCACCGTCCTCTGCCTGCTCCATTTCTTGGTGGCCTTCCTTTAGACCTGGGCCTCACTCTTGCTTCTCTCCTGCAGCTCTGGGCGACGTTGCTGGCAGAGGAAATGAGAAGAAGCCCAGTAGCGTGAGGGCTCTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCCCAGCGTCCCCCAGGTCACAGCCTCCCGCTATGTGACCTCGTGCCTGGCTGGTTGGGCCTGTTCACTTTTTCTCCTGGACAGGGAACAGCCCCACTGGTGTCCTTTATCACCCCCACGGCCTCTCCTGGCTTGGGGCTGACAGTGACAAGATCAGACAGCTAAGGGGTCAGATGGAGGATGTGGAGCTGGGTCCCGTGCTGTGGAATAGCCTCACCGAGATTTGAGTGCCTTCTGGGGAACTGGTTCCCTTGCAGGGGGCTGTGTGGAGAGGCGCGCTCTCCCTGCCTCACCCATGCTCATCCTAACTCGGTTACCATCACATCTCTTTTTTCTTTTTTTCTTAAATTTTAAGAAAAAAGAAATTTAATTTTTTTGAGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACCATCATGCCTCGCTGCAGCCTCAATGTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGTGCAAGCCACTATACCCCACTTCCTATTTCTTAAAAAGTCACAGCCCTGTGTGTGGCTAATCCTGGACAGAAATCTAGAAGAAGTCAGCTACTTCTGGGGCGTGGCTCACCCAGTGGGCTTCAGGTTAGATATTTCTTATACTTATGAGGCTGGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGTGGATTGCTTGGGCTCAGGAGTTCGAGACCAACCTGGGCAACATGGCGAAACCCTGTTTCTAGAAAAGGTACAAAAATTAGCTGGGCAGGTGGCACGTGCCTGTGGTACCAGCTACTTGAGGGCCTGAGGCAGGAGGATCGCTTGAACCTGGGAGGTCGAGGTTGCAGTGAACTGAGATCATGTCACTGCACTCCAGCCTGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAAAAAAGAAAGAAAAAAATTCTTATGCATAGATTTGCCTCTTTTCTGTTTGTTTGTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGCTCAACCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGACTGGGTTTCATCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCAGGCCCAGGCCGCAAGGCGATCTCTAAACAAACATAAAAGACCAGGAGTCAAGGTTATGGTACGATGCCCGTGTTTTCACTCCAGCCACGGAGCTGGGTCTCTGGTCTCGGGGGCAGCTGTGTGACAGAGCGTGCCTCTCCCTACAGTGCTCCTCGTCTTCCTTTGCCTGGGGGTCTTCCTTCTATGGAAGAACTGGCGGCTTAAGAACATCAACAGCATCAACTTTGACAACCCCGTCTATCAGAAGACCACAGAGGATGAGGTCCACATTTGCCACAACCAGGACGGCTACAGCTACCCCTCGGTGAGTGACCCTCTCTAGAAAGCCAGAGCCCATGGCGGCCCCCTCCCAGCTGGAGGCATATGATCCTCAAGGGACCAGGCCGAGGCTTCCCCAGCCCTCCAGATCGAGGACAGCATTAGGTGAATGCTTCTGTGCGCTCATTCAGAATGTCAGCGGACAATGGCCTTGGTGGTGTAGAGGAATGTTGGATAAGCAAATAGAGAGCTCCATCAGATGGTGACAGGGCAAAGAAAGTCAAAAGGAGTTCAGAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGGACTTTGGGAGGCCGAGGCTGGCGGATCACCTGAAGTCAGGAGTTTGAGACCAGCTTGGCCATCATGACAAAACCCCGTCTCTATTAAAAATACAAAAAATTAGCCAGGCGTGGGAGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCCGAGGTAGAAAAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCCGGGAGGCAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGGAGTTCAGAGGCCCGGCATGGTGGTTCACACATGTGATCCCAGAACTTGGGGAGGTTGAGGCAGGAGAATCACCTGAGCTCAGAGTTCAAGACCAGCCTGGGCAGCACAGCAAGACCCCATCTCTGCAAAAAATAAAAATTTAGCCCAGTGTGGTGATGAGCGCCTAGTTCCAGCTACTAGGGAGGCTAAGGCAGGAGGATTGCTTGAGGCTAAGGTAGGAGATTGAGACTGCAGTGACTTGTGATTGCGTCACTGCGCTCCAGCCTGGGTGACAGAGCAAGCCCTTGTCTCTTAAAAAAAAAAAAAAATTCAAAGAAGGGTTTCCAGAGGGCCAGGAGGGAGGAAGGGAGAGGAGGTGTTTTATTTTTTTGCTTTTATTTTTTATTTTGAGACAGAGTCTCTCTCTGTCACCCAGGTTGGAGTGCAGTGCTGTGATCTTGGCTCACTGCAACTTCTGCCTCCTGGGTTCAAGCAATTCTTATGCCTCAGCCTCAGCCTCCTGAGTAGCTGGGATTACAACACTATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCGCCATGTTGCCCAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCCACGTGCTGGGATTGCAGGCGTGAGCCACTGCGCCCGCCTTGATCTTTACACAAGGGGTTTAGGGTAGGTAGCCTTCTCTGAACCAGGAGAACAGCCTGTGCGAAGGCCCTGAGGCTGGACCGTGCCTGTTGGGTTTGAGGCCGTTGTAGCTGGAGCAAACAGAGAGAGGGGTAAAAAGGCAGGAGGCTACCAGGCAGGTTGTGCAGAGCCTTGTGGGCCACTGGGGAGGACTTTGGCTTTTGCCCTGAGAGCGGTGGGAAGTGACTGAATCCGGTACTCACCGTCTCCCTCTGGCGGCTCCTGGGGGAACATGCTTGGGGATCAGGCTGGGGGAGGCTGCCAGGCCCAGGAGGTGAGAAGTAGGTGGCCTCCAGCCGTGTTTCCTGAATGCTGGACTGATAGTTTCCGCTGTTTACCATTTGTTGGCAGAGACAGATGGTCAGTCTGGAGGATGACGTGGCGTGAACATCTGCCTGGAGTCCCGTCCCTGCCCAGAACCCTTCCTGAGACCTCGCCGGCCTTGTTTTATTCAAAGACAGAGAAGACCAAAGCATTGCCTGCCAGAGCTTTGTTTTATATATTTATTCATCTGGGAGGCAGAACAGGCTTCGGACAGTGCCCATGCAATGGCTTGGGTTGGGATTTTGGTTTCTTCCTTTCCTCGTGAAGGATAAGAGAAACAGGCCCGGGGGGACCAGGATGACACCTCCATTTCTCTCCAGGAAGTTTT | TAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGCGCCCAGACCAAAATATGCTCATTTTAATAAAATGCACAAGTAGGTTGACAAGAATTTCACCTGCAACCTTGTCAACCACCTAGAATAAAAGCCTCTGCAGCCCTCCCCTAAAGACTCATCAATGTGAGGCTCAAGAACCTTCTTAGGCTGGGCTCGGTGGCTCATTTCTGTAATCCCTGCACTTTGGAAGGCTGAGGCAGGAGGATCTCTTGAGGCCAGGAGTTCAAGACAAGCCTGGGCAACATAGCCAGACCTCTGTTTCTATCCCCCACAAAAAGAACCTTCTTAAACCGGAATTGAGTCCTACAACCTCGATAACTCACAAATAAGCCCGTGTGGCCTCTCACAGACTTGGGAAGTTCTCCAAGTGTCCAGGGAGATGTGCCAGGCGCTTTCCTGCCGTGACCACCGTCCTCTGCCTGCTCCATTTCTTGGTGGCCTTCCTTTAGACCTGGGCCTCACTCTTGCTTCTCTCCTGCAGCTCTGGGCGACGTTGCTGGCAGAGGAAATGAGAAGAAGCCCAGTAGCGTGAGGGCTCTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCCCAGCGTCCCCCAGGTCACAGCCTCCCGCTATGTGACCTCGTGCCTGGCTGGTTGGGCCTGTTCACTTTTTCTCCTGGACAGGGAACAGCCCCACTGGTGTCCTTTATCACCCCCACGGCCTCTCCTGGCTTGGGGCTGACAGTGACAAGATCAGACAGCTAAGGGGTCAGATGGAGGATGTGGAGCTGGGTCCCGTGCTGTGGAATAGCCTCACCGAGATTTGAGTGCCTTCTGGGGAACTGGTTCCCTTGCAGGGGGCTGTGTGGAGAGGCGCGCTCTCCCTGCCTCACCCATGCTCATCCTAACTCGGTTACCATCACATCTCTTTTTTCTTTTTTTCTTAAATTTTAAGAAAAAAGAAATTTAATTTTTTTGAGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACCATCATGCCTCGCTGCAGCCTCAATGTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGTGCAAGCCACTATACCCCACTTCCTATTTCTTAAAAAGTCACAGCCCTGTGTGTGGCTAATCCTGGACAGAAATCTAGAAGAAGTCAGCTACTTCTGGGGCGTGGCTCACCCAGTGGGCTTCAGGTTAGATATTTCTTATACTTATGAGGCTGGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGTGGATTGCTTGGGCTCAGGAGTTCGAGACCAACCTGGGCAACATGGCGAAACCCTGTTTCTAGAAAAGGTACAAAAATTAGCTGGGCAGGTGGCACGTGCCTGTGGTACCAGCTACTTGAGGGCCTGAGGCAGGAGGATCGCTTGAACCTGGGAGGTCGAGGTTGCAGTGAACTGAGATCATGTCACTGCACTCCAGCCTGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAAAAAAGAAAGAAAAAAATTCTTATGCATAGATTTGCCTCTTTTCTGTTTGTTTGTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGCTCAACCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGACTGGGTTTCATCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCAGGCCCAGGCCGCAAGGCGATCTCTAAACAAACATAAAAGACCAGGAGTCAAGGTTATGGTACGATGCCCGTGTTTTCACTCCAGCCACGGAGCTGGGTCTCTGGTCTCGGGGGCAGCTGTGTGACAGAGCGTGCCTCTCCCTACAGTGCTCCTCGTCTTCCTTTGCCTGGGGGGTCTTCCTTCTATGGAAGAACTGGCGGCTTAAGAACATCAACAGCATCAACTTTGACAACCCCGTCTATCAGAAGACCACAGAGGATGAGGTCCACATTTGCCACAACCAGGACGGCTACAGCTACCCCTCGGTGAGTGACCCTCTCTAGAAAGCCAGAGCCCATGGCGGCCCCCTCCCAGCTGGAGGCATATGATCCTCAAGGGACCAGGCCGAGGCTTCCCCAGCCCTCCAGATCGAGGACAGCATTAGGTGAATGCTTCTGTGCGCTCATTCAGAATGTCAGCGGACAATGGCCTTGGTGGTGTAGAGGAATGTTGGATAAGCAAATAGAGAGCTCCATCAGATGGTGACAGGGCAAAGAAAGTCAAAAGGAGTTCAGAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGGACTTTGGGAGGCCGAGGCTGGCGGATCACCTGAAGTCAGGAGTTTGAGACCAGCTTGGCCATCATGACAAAACCCCGTCTCTATTAAAAATACAAAAAATTAGCCAGGCGTGGGAGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCCGAGGTAGAAAAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCCGGGAGGCAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGGAGTTCAGAGGCCCGGCATGGTGGTTCACACATGTGATCCCAGAACTTGGGGAGGTTGAGGCAGGAGAATCACCTGAGCTCAGAGTTCAAGACCAGCCTGGGCAGCACAGCAAGACCCCATCTCTGCAAAAAATAAAAATTTAGCCCAGTGTGGTGATGAGCGCCTAGTTCCAGCTACTAGGGAGGCTAAGGCAGGAGGATTGCTTGAGGCTAAGGTAGGAGATTGAGACTGCAGTGACTTGTGATTGCGTCACTGCGCTCCAGCCTGGGTGACAGAGCAAGCCCTTGTCTCTTAAAAAAAAAAAAAAATTCAAAGAAGGGTTTCCAGAGGGCCAGGAGGGAGGAAGGGAGAGGAGGTGTTTTATTTTTTTGCTTTTATTTTTTATTTTGAGACAGAGTCTCTCTCTGTCACCCAGGTTGGAGTGCAGTGCTGTGATCTTGGCTCACTGCAACTTCTGCCTCCTGGGTTCAAGCAATTCTTATGCCTCAGCCTCAGCCTCCTGAGTAGCTGGGATTACAACACTATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCGCCATGTTGCCCAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCCACGTGCTGGGATTGCAGGCGTGAGCCACTGCGCCCGCCTTGATCTTTACACAAGGGGTTTAGGGTAGGTAGCCTTCTCTGAACCAGGAGAACAGCCTGTGCGAAGGCCCTGAGGCTGGACCGTGCCTGTTGGGTTTGAGGCCGTTGTAGCTGGAGCAAACAGAGAGAGGGGTAAAAAGGCAGGAGGCTACCAGGCAGGTTGTGCAGAGCCTTGTGGGCCACTGGGGAGGACTTTGGCTTTTGCCCTGAGAGCGGTGGGAAGTGACTGAATCCGGTACTCACCGTCTCCCTCTGGCGGCTCCTGGGGGAACATGCTTGGGGATCAGGCTGGGGGAGGCTGCCAGGCCCAGGAGGTGAGAAGTAGGTGGCCTCCAGCCGTGTTTCCTGAATGCTGGACTGATAGTTTCCGCTGTTTACCATTTGTTGGCAGAGACAGATGGTCAGTCTGGAGGATGACGTGGCGTGAACATCTGCCTGGAGTCCCGTCCCTGCCCAGAACCCTTCCTGAGACCTCGCCGGCCTTGTTTTATTCAAAGACAGAGAAGACCAAAGCATTGCCTGCCAGAGCTTTGTTTTATATATTTATTCATCTGGGAGGCAGAACAGGCTTCGGACAGTGCCCATGCAATGGCTTGGGTTGGGATTTTGGTTTCTTCCTTTCCTCGTGAAGGATAAGAGAAACAGGCCCGGGGGGACCAGGATGACACCTCCATTTCTCTCCAGGAAGTTT | pathogenic | 298,782 |
Determine whether the variant at chromosome 19, position 11129534, in gene LDLR (low density lipoprotein receptor) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | TAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGCGCCCAGACCAAAATATGCTCATTTTAATAAAATGCACAAGTAGGTTGACAAGAATTTCACCTGCAACCTTGTCAACCACCTAGAATAAAAGCCTCTGCAGCCCTCCCCTAAAGACTCATCAATGTGAGGCTCAAGAACCTTCTTAGGCTGGGCTCGGTGGCTCATTTCTGTAATCCCTGCACTTTGGAAGGCTGAGGCAGGAGGATCTCTTGAGGCCAGGAGTTCAAGACAAGCCTGGGCAACATAGCCAGACCTCTGTTTCTATCCCCCACAAAAAGAACCTTCTTAAACCGGAATTGAGTCCTACAACCTCGATAACTCACAAATAAGCCCGTGTGGCCTCTCACAGACTTGGGAAGTTCTCCAAGTGTCCAGGGAGATGTGCCAGGCGCTTTCCTGCCGTGACCACCGTCCTCTGCCTGCTCCATTTCTTGGTGGCCTTCCTTTAGACCTGGGCCTCACTCTTGCTTCTCTCCTGCAGCTCTGGGCGACGTTGCTGGCAGAGGAAATGAGAAGAAGCCCAGTAGCGTGAGGGCTCTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCCCAGCGTCCCCCAGGTCACAGCCTCCCGCTATGTGACCTCGTGCCTGGCTGGTTGGGCCTGTTCACTTTTTCTCCTGGACAGGGAACAGCCCCACTGGTGTCCTTTATCACCCCCACGGCCTCTCCTGGCTTGGGGCTGACAGTGACAAGATCAGACAGCTAAGGGGTCAGATGGAGGATGTGGAGCTGGGTCCCGTGCTGTGGAATAGCCTCACCGAGATTTGAGTGCCTTCTGGGGAACTGGTTCCCTTGCAGGGGGCTGTGTGGAGAGGCGCGCTCTCCCTGCCTCACCCATGCTCATCCTAACTCGGTTACCATCACATCTCTTTTTTCTTTTTTTCTTAAATTTTAAGAAAAAAGAAATTTAATTTTTTTGAGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACCATCATGCCTCGCTGCAGCCTCAATGTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGTGCAAGCCACTATACCCCACTTCCTATTTCTTAAAAAGTCACAGCCCTGTGTGTGGCTAATCCTGGACAGAAATCTAGAAGAAGTCAGCTACTTCTGGGGCGTGGCTCACCCAGTGGGCTTCAGGTTAGATATTTCTTATACTTATGAGGCTGGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGTGGATTGCTTGGGCTCAGGAGTTCGAGACCAACCTGGGCAACATGGCGAAACCCTGTTTCTAGAAAAGGTACAAAAATTAGCTGGGCAGGTGGCACGTGCCTGTGGTACCAGCTACTTGAGGGCCTGAGGCAGGAGGATCGCTTGAACCTGGGAGGTCGAGGTTGCAGTGAACTGAGATCATGTCACTGCACTCCAGCCTGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAAAAAAGAAAGAAAAAAATTCTTATGCATAGATTTGCCTCTTTTCTGTTTGTTTGTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGCTCAACCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGACTGGGTTTCATCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCAGGCCCAGGCCGCAAGGCGATCTCTAAACAAACATAAAAGACCAGGAGTCAAGGTTATGGTACGATGCCCGTGTTTTCACTCCAGCCACGGAGCTGGGTCTCTGGTCTCGGGGGCAGCTGTGTGACAGAGCGTGCCTCTCCCTACAGTGCTCCTCGTCTTCCTTTGCCTGGGGGTCTTCCTTCTATGGAAGAACTGGCGGCTTAAGAACATCAACAGCATCAACTTTGACAACCCCGTCTATCAGAAGACCACAGAGGATGAGGTCCACATTTGCCACAACCAGGACGGCTACAGCTACCCCTCGGTGAGTGACCCTCTCTAGAAAGCCAGAGCCCATGGCGGCCCCCTCCCAGCTGGAGGCATATGATCCTCAAGGGACCAGGCCGAGGCTTCCCCAGCCCTCCAGATCGAGGACAGCATTAGGTGAATGCTTCTGTGCGCTCATTCAGAATGTCAGCGGACAATGGCCTTGGTGGTGTAGAGGAATGTTGGATAAGCAAATAGAGAGCTCCATCAGATGGTGACAGGGCAAAGAAAGTCAAAAGGAGTTCAGAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGGACTTTGGGAGGCCGAGGCTGGCGGATCACCTGAAGTCAGGAGTTTGAGACCAGCTTGGCCATCATGACAAAACCCCGTCTCTATTAAAAATACAAAAAATTAGCCAGGCGTGGGAGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCCGAGGTAGAAAAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCCGGGAGGCAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGGAGTTCAGAGGCCCGGCATGGTGGTTCACACATGTGATCCCAGAACTTGGGGAGGTTGAGGCAGGAGAATCACCTGAGCTCAGAGTTCAAGACCAGCCTGGGCAGCACAGCAAGACCCCATCTCTGCAAAAAATAAAAATTTAGCCCAGTGTGGTGATGAGCGCCTAGTTCCAGCTACTAGGGAGGCTAAGGCAGGAGGATTGCTTGAGGCTAAGGTAGGAGATTGAGACTGCAGTGACTTGTGATTGCGTCACTGCGCTCCAGCCTGGGTGACAGAGCAAGCCCTTGTCTCTTAAAAAAAAAAAAAAATTCAAAGAAGGGTTTCCAGAGGGCCAGGAGGGAGGAAGGGAGAGGAGGTGTTTTATTTTTTTGCTTTTATTTTTTATTTTGAGACAGAGTCTCTCTCTGTCACCCAGGTTGGAGTGCAGTGCTGTGATCTTGGCTCACTGCAACTTCTGCCTCCTGGGTTCAAGCAATTCTTATGCCTCAGCCTCAGCCTCCTGAGTAGCTGGGATTACAACACTATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCGCCATGTTGCCCAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCCACGTGCTGGGATTGCAGGCGTGAGCCACTGCGCCCGCCTTGATCTTTACACAAGGGGTTTAGGGTAGGTAGCCTTCTCTGAACCAGGAGAACAGCCTGTGCGAAGGCCCTGAGGCTGGACCGTGCCTGTTGGGTTTGAGGCCGTTGTAGCTGGAGCAAACAGAGAGAGGGGTAAAAAGGCAGGAGGCTACCAGGCAGGTTGTGCAGAGCCTTGTGGGCCACTGGGGAGGACTTTGGCTTTTGCCCTGAGAGCGGTGGGAAGTGACTGAATCCGGTACTCACCGTCTCCCTCTGGCGGCTCCTGGGGGAACATGCTTGGGGATCAGGCTGGGGGAGGCTGCCAGGCCCAGGAGGTGAGAAGTAGGTGGCCTCCAGCCGTGTTTCCTGAATGCTGGACTGATAGTTTCCGCTGTTTACCATTTGTTGGCAGAGACAGATGGTCAGTCTGGAGGATGACGTGGCGTGAACATCTGCCTGGAGTCCCGTCCCTGCCCAGAACCCTTCCTGAGACCTCGCCGGCCTTGTTTTATTCAAAGACAGAGAAGACCAAAGCATTGCCTGCCAGAGCTTTGTTTTATATATTTATTCATCTGGGAGGCAGAACAGGCTTCGGACAGTGCCCATGCAATGGCTTGGGTTGGGATTTTGGTTTCTTCCTTTCCTCGTGAAGGATAAGAGAAACAGGCCCGGGGGGACCAGGATGACACCTCCATTTCTCTCCAGGAAGTTTT | TAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGCGCCCAGACCAAAATATGCTCATTTTAATAAAATGCACAAGTAGGTTGACAAGAATTTCACCTGCAACCTTGTCAACCACCTAGAATAAAAGCCTCTGCAGCCCTCCCCTAAAGACTCATCAATGTGAGGCTCAAGAACCTTCTTAGGCTGGGCTCGGTGGCTCATTTCTGTAATCCCTGCACTTTGGAAGGCTGAGGCAGGAGGATCTCTTGAGGCCAGGAGTTCAAGACAAGCCTGGGCAACATAGCCAGACCTCTGTTTCTATCCCCCACAAAAAGAACCTTCTTAAACCGGAATTGAGTCCTACAACCTCGATAACTCACAAATAAGCCCGTGTGGCCTCTCACAGACTTGGGAAGTTCTCCAAGTGTCCAGGGAGATGTGCCAGGCGCTTTCCTGCCGTGACCACCGTCCTCTGCCTGCTCCATTTCTTGGTGGCCTTCCTTTAGACCTGGGCCTCACTCTTGCTTCTCTCCTGCAGCTCTGGGCGACGTTGCTGGCAGAGGAAATGAGAAGAAGCCCAGTAGCGTGAGGGCTCTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCCCAGCGTCCCCCAGGTCACAGCCTCCCGCTATGTGACCTCGTGCCTGGCTGGTTGGGCCTGTTCACTTTTTCTCCTGGACAGGGAACAGCCCCACTGGTGTCCTTTATCACCCCCACGGCCTCTCCTGGCTTGGGGCTGACAGTGACAAGATCAGACAGCTAAGGGGTCAGATGGAGGATGTGGAGCTGGGTCCCGTGCTGTGGAATAGCCTCACCGAGATTTGAGTGCCTTCTGGGGAACTGGTTCCCTTGCAGGGGGCTGTGTGGAGAGGCGCGCTCTCCCTGCCTCACCCATGCTCATCCTAACTCGGTTACCATCACATCTCTTTTTTCTTTTTTTCTTAAATTTTAAGAAAAAAGAAATTTAATTTTTTTGAGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACCATCATGCCTCGCTGCAGCCTCAATGTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGTGCAAGCCACTATACCCCACTTCCTATTTCTTAAAAAGTCACAGCCCTGTGTGTGGCTAATCCTGGACAGAAATCTAGAAGAAGTCAGCTACTTCTGGGGCGTGGCTCACCCAGTGGGCTTCAGGTTAGATATTTCTTATACTTATGAGGCTGGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGTGGATTGCTTGGGCTCAGGAGTTCGAGACCAACCTGGGCAACATGGCGAAACCCTGTTTCTAGAAAAGGTACAAAAATTAGCTGGGCAGGTGGCACGTGCCTGTGGTACCAGCTACTTGAGGGCCTGAGGCAGGAGGATCGCTTGAACCTGGGAGGTCGAGGTTGCAGTGAACTGAGATCATGTCACTGCACTCCAGCCTGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAAAAAAGAAAGAAAAAAATTCTTATGCATAGATTTGCCTCTTTTCTGTTTGTTTGTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGCTCAACCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGACTGGGTTTCATCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCAGGCCCAGGCCGCAAGGCGATCTCTAAACAAACATAAAAGACCAGGAGTCAAGGTTATGGTACGATGCCCGTGTTTTCACTCCAGCCACGGAGCTGGGTCTCTGGTCTCGGGGGCAGCTGTGTGACAGAGCGTGCCTCTCCCTACAGTGCTCCTCGTCTTCCTTTGCCTGGGGTCTTCCTTCTATGGAAGAACTGGCGGCTTAAGAACATCAACAGCATCAACTTTGACAACCCCGTCTATCAGAAGACCACAGAGGATGAGGTCCACATTTGCCACAACCAGGACGGCTACAGCTACCCCTCGGTGAGTGACCCTCTCTAGAAAGCCAGAGCCCATGGCGGCCCCCTCCCAGCTGGAGGCATATGATCCTCAAGGGACCAGGCCGAGGCTTCCCCAGCCCTCCAGATCGAGGACAGCATTAGGTGAATGCTTCTGTGCGCTCATTCAGAATGTCAGCGGACAATGGCCTTGGTGGTGTAGAGGAATGTTGGATAAGCAAATAGAGAGCTCCATCAGATGGTGACAGGGCAAAGAAAGTCAAAAGGAGTTCAGAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGGACTTTGGGAGGCCGAGGCTGGCGGATCACCTGAAGTCAGGAGTTTGAGACCAGCTTGGCCATCATGACAAAACCCCGTCTCTATTAAAAATACAAAAAATTAGCCAGGCGTGGGAGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCCGAGGTAGAAAAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCCGGGAGGCAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGGAGTTCAGAGGCCCGGCATGGTGGTTCACACATGTGATCCCAGAACTTGGGGAGGTTGAGGCAGGAGAATCACCTGAGCTCAGAGTTCAAGACCAGCCTGGGCAGCACAGCAAGACCCCATCTCTGCAAAAAATAAAAATTTAGCCCAGTGTGGTGATGAGCGCCTAGTTCCAGCTACTAGGGAGGCTAAGGCAGGAGGATTGCTTGAGGCTAAGGTAGGAGATTGAGACTGCAGTGACTTGTGATTGCGTCACTGCGCTCCAGCCTGGGTGACAGAGCAAGCCCTTGTCTCTTAAAAAAAAAAAAAAATTCAAAGAAGGGTTTCCAGAGGGCCAGGAGGGAGGAAGGGAGAGGAGGTGTTTTATTTTTTTGCTTTTATTTTTTATTTTGAGACAGAGTCTCTCTCTGTCACCCAGGTTGGAGTGCAGTGCTGTGATCTTGGCTCACTGCAACTTCTGCCTCCTGGGTTCAAGCAATTCTTATGCCTCAGCCTCAGCCTCCTGAGTAGCTGGGATTACAACACTATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCGCCATGTTGCCCAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCCACGTGCTGGGATTGCAGGCGTGAGCCACTGCGCCCGCCTTGATCTTTACACAAGGGGTTTAGGGTAGGTAGCCTTCTCTGAACCAGGAGAACAGCCTGTGCGAAGGCCCTGAGGCTGGACCGTGCCTGTTGGGTTTGAGGCCGTTGTAGCTGGAGCAAACAGAGAGAGGGGTAAAAAGGCAGGAGGCTACCAGGCAGGTTGTGCAGAGCCTTGTGGGCCACTGGGGAGGACTTTGGCTTTTGCCCTGAGAGCGGTGGGAAGTGACTGAATCCGGTACTCACCGTCTCCCTCTGGCGGCTCCTGGGGGAACATGCTTGGGGATCAGGCTGGGGGAGGCTGCCAGGCCCAGGAGGTGAGAAGTAGGTGGCCTCCAGCCGTGTTTCCTGAATGCTGGACTGATAGTTTCCGCTGTTTACCATTTGTTGGCAGAGACAGATGGTCAGTCTGGAGGATGACGTGGCGTGAACATCTGCCTGGAGTCCCGTCCCTGCCCAGAACCCTTCCTGAGACCTCGCCGGCCTTGTTTTATTCAAAGACAGAGAAGACCAAAGCATTGCCTGCCAGAGCTTTGTTTTATATATTTATTCATCTGGGAGGCAGAACAGGCTTCGGACAGTGCCCATGCAATGGCTTGGGTTGGGATTTTGGTTTCTTCCTTTCCTCGTGAAGGATAAGAGAAACAGGCCCGGGGGGACCAGGATGACACCTCCATTTCTCTCCAGGAAGTTTTN | pathogenic | 298,783 |
Considering the variant on chromosome 19, location 11129540, 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'] | CCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGCGCCCAGACCAAAATATGCTCATTTTAATAAAATGCACAAGTAGGTTGACAAGAATTTCACCTGCAACCTTGTCAACCACCTAGAATAAAAGCCTCTGCAGCCCTCCCCTAAAGACTCATCAATGTGAGGCTCAAGAACCTTCTTAGGCTGGGCTCGGTGGCTCATTTCTGTAATCCCTGCACTTTGGAAGGCTGAGGCAGGAGGATCTCTTGAGGCCAGGAGTTCAAGACAAGCCTGGGCAACATAGCCAGACCTCTGTTTCTATCCCCCACAAAAAGAACCTTCTTAAACCGGAATTGAGTCCTACAACCTCGATAACTCACAAATAAGCCCGTGTGGCCTCTCACAGACTTGGGAAGTTCTCCAAGTGTCCAGGGAGATGTGCCAGGCGCTTTCCTGCCGTGACCACCGTCCTCTGCCTGCTCCATTTCTTGGTGGCCTTCCTTTAGACCTGGGCCTCACTCTTGCTTCTCTCCTGCAGCTCTGGGCGACGTTGCTGGCAGAGGAAATGAGAAGAAGCCCAGTAGCGTGAGGGCTCTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCCCAGCGTCCCCCAGGTCACAGCCTCCCGCTATGTGACCTCGTGCCTGGCTGGTTGGGCCTGTTCACTTTTTCTCCTGGACAGGGAACAGCCCCACTGGTGTCCTTTATCACCCCCACGGCCTCTCCTGGCTTGGGGCTGACAGTGACAAGATCAGACAGCTAAGGGGTCAGATGGAGGATGTGGAGCTGGGTCCCGTGCTGTGGAATAGCCTCACCGAGATTTGAGTGCCTTCTGGGGAACTGGTTCCCTTGCAGGGGGCTGTGTGGAGAGGCGCGCTCTCCCTGCCTCACCCATGCTCATCCTAACTCGGTTACCATCACATCTCTTTTTTCTTTTTTTCTTAAATTTTAAGAAAAAAGAAATTTAATTTTTTTGAGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACCATCATGCCTCGCTGCAGCCTCAATGTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGTGCAAGCCACTATACCCCACTTCCTATTTCTTAAAAAGTCACAGCCCTGTGTGTGGCTAATCCTGGACAGAAATCTAGAAGAAGTCAGCTACTTCTGGGGCGTGGCTCACCCAGTGGGCTTCAGGTTAGATATTTCTTATACTTATGAGGCTGGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGTGGATTGCTTGGGCTCAGGAGTTCGAGACCAACCTGGGCAACATGGCGAAACCCTGTTTCTAGAAAAGGTACAAAAATTAGCTGGGCAGGTGGCACGTGCCTGTGGTACCAGCTACTTGAGGGCCTGAGGCAGGAGGATCGCTTGAACCTGGGAGGTCGAGGTTGCAGTGAACTGAGATCATGTCACTGCACTCCAGCCTGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAAAAAAGAAAGAAAAAAATTCTTATGCATAGATTTGCCTCTTTTCTGTTTGTTTGTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGCTCAACCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGACTGGGTTTCATCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCAGGCCCAGGCCGCAAGGCGATCTCTAAACAAACATAAAAGACCAGGAGTCAAGGTTATGGTACGATGCCCGTGTTTTCACTCCAGCCACGGAGCTGGGTCTCTGGTCTCGGGGGCAGCTGTGTGACAGAGCGTGCCTCTCCCTACAGTGCTCCTCGTCTTCCTTTGCCTGGGGGTCTTCCTTCTATGGAAGAACTGGCGGCTTAAGAACATCAACAGCATCAACTTTGACAACCCCGTCTATCAGAAGACCACAGAGGATGAGGTCCACATTTGCCACAACCAGGACGGCTACAGCTACCCCTCGGTGAGTGACCCTCTCTAGAAAGCCAGAGCCCATGGCGGCCCCCTCCCAGCTGGAGGCATATGATCCTCAAGGGACCAGGCCGAGGCTTCCCCAGCCCTCCAGATCGAGGACAGCATTAGGTGAATGCTTCTGTGCGCTCATTCAGAATGTCAGCGGACAATGGCCTTGGTGGTGTAGAGGAATGTTGGATAAGCAAATAGAGAGCTCCATCAGATGGTGACAGGGCAAAGAAAGTCAAAAGGAGTTCAGAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGGACTTTGGGAGGCCGAGGCTGGCGGATCACCTGAAGTCAGGAGTTTGAGACCAGCTTGGCCATCATGACAAAACCCCGTCTCTATTAAAAATACAAAAAATTAGCCAGGCGTGGGAGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCCGAGGTAGAAAAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCCGGGAGGCAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGGAGTTCAGAGGCCCGGCATGGTGGTTCACACATGTGATCCCAGAACTTGGGGAGGTTGAGGCAGGAGAATCACCTGAGCTCAGAGTTCAAGACCAGCCTGGGCAGCACAGCAAGACCCCATCTCTGCAAAAAATAAAAATTTAGCCCAGTGTGGTGATGAGCGCCTAGTTCCAGCTACTAGGGAGGCTAAGGCAGGAGGATTGCTTGAGGCTAAGGTAGGAGATTGAGACTGCAGTGACTTGTGATTGCGTCACTGCGCTCCAGCCTGGGTGACAGAGCAAGCCCTTGTCTCTTAAAAAAAAAAAAAAATTCAAAGAAGGGTTTCCAGAGGGCCAGGAGGGAGGAAGGGAGAGGAGGTGTTTTATTTTTTTGCTTTTATTTTTTATTTTGAGACAGAGTCTCTCTCTGTCACCCAGGTTGGAGTGCAGTGCTGTGATCTTGGCTCACTGCAACTTCTGCCTCCTGGGTTCAAGCAATTCTTATGCCTCAGCCTCAGCCTCCTGAGTAGCTGGGATTACAACACTATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCGCCATGTTGCCCAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCCACGTGCTGGGATTGCAGGCGTGAGCCACTGCGCCCGCCTTGATCTTTACACAAGGGGTTTAGGGTAGGTAGCCTTCTCTGAACCAGGAGAACAGCCTGTGCGAAGGCCCTGAGGCTGGACCGTGCCTGTTGGGTTTGAGGCCGTTGTAGCTGGAGCAAACAGAGAGAGGGGTAAAAAGGCAGGAGGCTACCAGGCAGGTTGTGCAGAGCCTTGTGGGCCACTGGGGAGGACTTTGGCTTTTGCCCTGAGAGCGGTGGGAAGTGACTGAATCCGGTACTCACCGTCTCCCTCTGGCGGCTCCTGGGGGAACATGCTTGGGGATCAGGCTGGGGGAGGCTGCCAGGCCCAGGAGGTGAGAAGTAGGTGGCCTCCAGCCGTGTTTCCTGAATGCTGGACTGATAGTTTCCGCTGTTTACCATTTGTTGGCAGAGACAGATGGTCAGTCTGGAGGATGACGTGGCGTGAACATCTGCCTGGAGTCCCGTCCCTGCCCAGAACCCTTCCTGAGACCTCGCCGGCCTTGTTTTATTCAAAGACAGAGAAGACCAAAGCATTGCCTGCCAGAGCTTTGTTTTATATATTTATTCATCTGGGAGGCAGAACAGGCTTCGGACAGTGCCCATGCAATGGCTTGGGTTGGGATTTTGGTTTCTTCCTTTCCTCGTGAAGGATAAGAGAAACAGGCCCGGGGGGACCAGGATGACACCTCCATTTCTCTCCAGGAAGTTTTGAGTTT | CCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGCGCCCAGACCAAAATATGCTCATTTTAATAAAATGCACAAGTAGGTTGACAAGAATTTCACCTGCAACCTTGTCAACCACCTAGAATAAAAGCCTCTGCAGCCCTCCCCTAAAGACTCATCAATGTGAGGCTCAAGAACCTTCTTAGGCTGGGCTCGGTGGCTCATTTCTGTAATCCCTGCACTTTGGAAGGCTGAGGCAGGAGGATCTCTTGAGGCCAGGAGTTCAAGACAAGCCTGGGCAACATAGCCAGACCTCTGTTTCTATCCCCCACAAAAAGAACCTTCTTAAACCGGAATTGAGTCCTACAACCTCGATAACTCACAAATAAGCCCGTGTGGCCTCTCACAGACTTGGGAAGTTCTCCAAGTGTCCAGGGAGATGTGCCAGGCGCTTTCCTGCCGTGACCACCGTCCTCTGCCTGCTCCATTTCTTGGTGGCCTTCCTTTAGACCTGGGCCTCACTCTTGCTTCTCTCCTGCAGCTCTGGGCGACGTTGCTGGCAGAGGAAATGAGAAGAAGCCCAGTAGCGTGAGGGCTCTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCCCAGCGTCCCCCAGGTCACAGCCTCCCGCTATGTGACCTCGTGCCTGGCTGGTTGGGCCTGTTCACTTTTTCTCCTGGACAGGGAACAGCCCCACTGGTGTCCTTTATCACCCCCACGGCCTCTCCTGGCTTGGGGCTGACAGTGACAAGATCAGACAGCTAAGGGGTCAGATGGAGGATGTGGAGCTGGGTCCCGTGCTGTGGAATAGCCTCACCGAGATTTGAGTGCCTTCTGGGGAACTGGTTCCCTTGCAGGGGGCTGTGTGGAGAGGCGCGCTCTCCCTGCCTCACCCATGCTCATCCTAACTCGGTTACCATCACATCTCTTTTTTCTTTTTTTCTTAAATTTTAAGAAAAAAGAAATTTAATTTTTTTGAGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACCATCATGCCTCGCTGCAGCCTCAATGTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGTGCAAGCCACTATACCCCACTTCCTATTTCTTAAAAAGTCACAGCCCTGTGTGTGGCTAATCCTGGACAGAAATCTAGAAGAAGTCAGCTACTTCTGGGGCGTGGCTCACCCAGTGGGCTTCAGGTTAGATATTTCTTATACTTATGAGGCTGGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGTGGATTGCTTGGGCTCAGGAGTTCGAGACCAACCTGGGCAACATGGCGAAACCCTGTTTCTAGAAAAGGTACAAAAATTAGCTGGGCAGGTGGCACGTGCCTGTGGTACCAGCTACTTGAGGGCCTGAGGCAGGAGGATCGCTTGAACCTGGGAGGTCGAGGTTGCAGTGAACTGAGATCATGTCACTGCACTCCAGCCTGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAAAAAAGAAAGAAAAAAATTCTTATGCATAGATTTGCCTCTTTTCTGTTTGTTTGTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGCTCAACCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGACTGGGTTTCATCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCAGGCCCAGGCCGCAAGGCGATCTCTAAACAAACATAAAAGACCAGGAGTCAAGGTTATGGTACGATGCCCGTGTTTTCACTCCAGCCACGGAGCTGGGTCTCTGGTCTCGGGGGCAGCTGTGTGACAGAGCGTGCCTCTCCCTACAGTGCTCCTCGTCTTCCTTTGCCTGGGGGTGCTTCCTTCTATGGAAGAACTGGCGGCTTAAGAACATCAACAGCATCAACTTTGACAACCCCGTCTATCAGAAGACCACAGAGGATGAGGTCCACATTTGCCACAACCAGGACGGCTACAGCTACCCCTCGGTGAGTGACCCTCTCTAGAAAGCCAGAGCCCATGGCGGCCCCCTCCCAGCTGGAGGCATATGATCCTCAAGGGACCAGGCCGAGGCTTCCCCAGCCCTCCAGATCGAGGACAGCATTAGGTGAATGCTTCTGTGCGCTCATTCAGAATGTCAGCGGACAATGGCCTTGGTGGTGTAGAGGAATGTTGGATAAGCAAATAGAGAGCTCCATCAGATGGTGACAGGGCAAAGAAAGTCAAAAGGAGTTCAGAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGGACTTTGGGAGGCCGAGGCTGGCGGATCACCTGAAGTCAGGAGTTTGAGACCAGCTTGGCCATCATGACAAAACCCCGTCTCTATTAAAAATACAAAAAATTAGCCAGGCGTGGGAGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCCGAGGTAGAAAAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCCGGGAGGCAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGGAGTTCAGAGGCCCGGCATGGTGGTTCACACATGTGATCCCAGAACTTGGGGAGGTTGAGGCAGGAGAATCACCTGAGCTCAGAGTTCAAGACCAGCCTGGGCAGCACAGCAAGACCCCATCTCTGCAAAAAATAAAAATTTAGCCCAGTGTGGTGATGAGCGCCTAGTTCCAGCTACTAGGGAGGCTAAGGCAGGAGGATTGCTTGAGGCTAAGGTAGGAGATTGAGACTGCAGTGACTTGTGATTGCGTCACTGCGCTCCAGCCTGGGTGACAGAGCAAGCCCTTGTCTCTTAAAAAAAAAAAAAAATTCAAAGAAGGGTTTCCAGAGGGCCAGGAGGGAGGAAGGGAGAGGAGGTGTTTTATTTTTTTGCTTTTATTTTTTATTTTGAGACAGAGTCTCTCTCTGTCACCCAGGTTGGAGTGCAGTGCTGTGATCTTGGCTCACTGCAACTTCTGCCTCCTGGGTTCAAGCAATTCTTATGCCTCAGCCTCAGCCTCCTGAGTAGCTGGGATTACAACACTATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCGCCATGTTGCCCAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCCACGTGCTGGGATTGCAGGCGTGAGCCACTGCGCCCGCCTTGATCTTTACACAAGGGGTTTAGGGTAGGTAGCCTTCTCTGAACCAGGAGAACAGCCTGTGCGAAGGCCCTGAGGCTGGACCGTGCCTGTTGGGTTTGAGGCCGTTGTAGCTGGAGCAAACAGAGAGAGGGGTAAAAAGGCAGGAGGCTACCAGGCAGGTTGTGCAGAGCCTTGTGGGCCACTGGGGAGGACTTTGGCTTTTGCCCTGAGAGCGGTGGGAAGTGACTGAATCCGGTACTCACCGTCTCCCTCTGGCGGCTCCTGGGGGAACATGCTTGGGGATCAGGCTGGGGGAGGCTGCCAGGCCCAGGAGGTGAGAAGTAGGTGGCCTCCAGCCGTGTTTCCTGAATGCTGGACTGATAGTTTCCGCTGTTTACCATTTGTTGGCAGAGACAGATGGTCAGTCTGGAGGATGACGTGGCGTGAACATCTGCCTGGAGTCCCGTCCCTGCCCAGAACCCTTCCTGAGACCTCGCCGGCCTTGTTTTATTCAAAGACAGAGAAGACCAAAGCATTGCCTGCCAGAGCTTTGTTTTATATATTTATTCATCTGGGAGGCAGAACAGGCTTCGGACAGTGCCCATGCAATGGCTTGGGTTGGGATTTTGGTTTCTTCCTTTCCTCGTGAAGGATAAGAGAAACAGGCCCGGGGGGACCAGGATGACACCTCCATTTCTCTCCAGGAAGTTTTGAGTT | pathogenic | 298,785 |
Is the genetic variant on chromosome 19, position 11129568, gene LDLR (low density lipoprotein receptor), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | CCACCGCGCCCAGACCAAAATATGCTCATTTTAATAAAATGCACAAGTAGGTTGACAAGAATTTCACCTGCAACCTTGTCAACCACCTAGAATAAAAGCCTCTGCAGCCCTCCCCTAAAGACTCATCAATGTGAGGCTCAAGAACCTTCTTAGGCTGGGCTCGGTGGCTCATTTCTGTAATCCCTGCACTTTGGAAGGCTGAGGCAGGAGGATCTCTTGAGGCCAGGAGTTCAAGACAAGCCTGGGCAACATAGCCAGACCTCTGTTTCTATCCCCCACAAAAAGAACCTTCTTAAACCGGAATTGAGTCCTACAACCTCGATAACTCACAAATAAGCCCGTGTGGCCTCTCACAGACTTGGGAAGTTCTCCAAGTGTCCAGGGAGATGTGCCAGGCGCTTTCCTGCCGTGACCACCGTCCTCTGCCTGCTCCATTTCTTGGTGGCCTTCCTTTAGACCTGGGCCTCACTCTTGCTTCTCTCCTGCAGCTCTGGGCGACGTTGCTGGCAGAGGAAATGAGAAGAAGCCCAGTAGCGTGAGGGCTCTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCCCAGCGTCCCCCAGGTCACAGCCTCCCGCTATGTGACCTCGTGCCTGGCTGGTTGGGCCTGTTCACTTTTTCTCCTGGACAGGGAACAGCCCCACTGGTGTCCTTTATCACCCCCACGGCCTCTCCTGGCTTGGGGCTGACAGTGACAAGATCAGACAGCTAAGGGGTCAGATGGAGGATGTGGAGCTGGGTCCCGTGCTGTGGAATAGCCTCACCGAGATTTGAGTGCCTTCTGGGGAACTGGTTCCCTTGCAGGGGGCTGTGTGGAGAGGCGCGCTCTCCCTGCCTCACCCATGCTCATCCTAACTCGGTTACCATCACATCTCTTTTTTCTTTTTTTCTTAAATTTTAAGAAAAAAGAAATTTAATTTTTTTGAGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACCATCATGCCTCGCTGCAGCCTCAATGTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGTGCAAGCCACTATACCCCACTTCCTATTTCTTAAAAAGTCACAGCCCTGTGTGTGGCTAATCCTGGACAGAAATCTAGAAGAAGTCAGCTACTTCTGGGGCGTGGCTCACCCAGTGGGCTTCAGGTTAGATATTTCTTATACTTATGAGGCTGGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGTGGATTGCTTGGGCTCAGGAGTTCGAGACCAACCTGGGCAACATGGCGAAACCCTGTTTCTAGAAAAGGTACAAAAATTAGCTGGGCAGGTGGCACGTGCCTGTGGTACCAGCTACTTGAGGGCCTGAGGCAGGAGGATCGCTTGAACCTGGGAGGTCGAGGTTGCAGTGAACTGAGATCATGTCACTGCACTCCAGCCTGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAAAAAAGAAAGAAAAAAATTCTTATGCATAGATTTGCCTCTTTTCTGTTTGTTTGTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGCTCAACCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGACTGGGTTTCATCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCAGGCCCAGGCCGCAAGGCGATCTCTAAACAAACATAAAAGACCAGGAGTCAAGGTTATGGTACGATGCCCGTGTTTTCACTCCAGCCACGGAGCTGGGTCTCTGGTCTCGGGGGCAGCTGTGTGACAGAGCGTGCCTCTCCCTACAGTGCTCCTCGTCTTCCTTTGCCTGGGGGTCTTCCTTCTATGGAAGAACTGGCGGCTTAAGAACATCAACAGCATCAACTTTGACAACCCCGTCTATCAGAAGACCACAGAGGATGAGGTCCACATTTGCCACAACCAGGACGGCTACAGCTACCCCTCGGTGAGTGACCCTCTCTAGAAAGCCAGAGCCCATGGCGGCCCCCTCCCAGCTGGAGGCATATGATCCTCAAGGGACCAGGCCGAGGCTTCCCCAGCCCTCCAGATCGAGGACAGCATTAGGTGAATGCTTCTGTGCGCTCATTCAGAATGTCAGCGGACAATGGCCTTGGTGGTGTAGAGGAATGTTGGATAAGCAAATAGAGAGCTCCATCAGATGGTGACAGGGCAAAGAAAGTCAAAAGGAGTTCAGAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGGACTTTGGGAGGCCGAGGCTGGCGGATCACCTGAAGTCAGGAGTTTGAGACCAGCTTGGCCATCATGACAAAACCCCGTCTCTATTAAAAATACAAAAAATTAGCCAGGCGTGGGAGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCCGAGGTAGAAAAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCCGGGAGGCAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGGAGTTCAGAGGCCCGGCATGGTGGTTCACACATGTGATCCCAGAACTTGGGGAGGTTGAGGCAGGAGAATCACCTGAGCTCAGAGTTCAAGACCAGCCTGGGCAGCACAGCAAGACCCCATCTCTGCAAAAAATAAAAATTTAGCCCAGTGTGGTGATGAGCGCCTAGTTCCAGCTACTAGGGAGGCTAAGGCAGGAGGATTGCTTGAGGCTAAGGTAGGAGATTGAGACTGCAGTGACTTGTGATTGCGTCACTGCGCTCCAGCCTGGGTGACAGAGCAAGCCCTTGTCTCTTAAAAAAAAAAAAAAATTCAAAGAAGGGTTTCCAGAGGGCCAGGAGGGAGGAAGGGAGAGGAGGTGTTTTATTTTTTTGCTTTTATTTTTTATTTTGAGACAGAGTCTCTCTCTGTCACCCAGGTTGGAGTGCAGTGCTGTGATCTTGGCTCACTGCAACTTCTGCCTCCTGGGTTCAAGCAATTCTTATGCCTCAGCCTCAGCCTCCTGAGTAGCTGGGATTACAACACTATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCGCCATGTTGCCCAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCCACGTGCTGGGATTGCAGGCGTGAGCCACTGCGCCCGCCTTGATCTTTACACAAGGGGTTTAGGGTAGGTAGCCTTCTCTGAACCAGGAGAACAGCCTGTGCGAAGGCCCTGAGGCTGGACCGTGCCTGTTGGGTTTGAGGCCGTTGTAGCTGGAGCAAACAGAGAGAGGGGTAAAAAGGCAGGAGGCTACCAGGCAGGTTGTGCAGAGCCTTGTGGGCCACTGGGGAGGACTTTGGCTTTTGCCCTGAGAGCGGTGGGAAGTGACTGAATCCGGTACTCACCGTCTCCCTCTGGCGGCTCCTGGGGGAACATGCTTGGGGATCAGGCTGGGGGAGGCTGCCAGGCCCAGGAGGTGAGAAGTAGGTGGCCTCCAGCCGTGTTTCCTGAATGCTGGACTGATAGTTTCCGCTGTTTACCATTTGTTGGCAGAGACAGATGGTCAGTCTGGAGGATGACGTGGCGTGAACATCTGCCTGGAGTCCCGTCCCTGCCCAGAACCCTTCCTGAGACCTCGCCGGCCTTGTTTTATTCAAAGACAGAGAAGACCAAAGCATTGCCTGCCAGAGCTTTGTTTTATATATTTATTCATCTGGGAGGCAGAACAGGCTTCGGACAGTGCCCATGCAATGGCTTGGGTTGGGATTTTGGTTTCTTCCTTTCCTCGTGAAGGATAAGAGAAACAGGCCCGGGGGGACCAGGATGACACCTCCATTTCTCTCCAGGAAGTTTTGAGTTTCTCTCCACCGTGACACAATCCTCAAACA | CCACCGCGCCCAGACCAAAATATGCTCATTTTAATAAAATGCACAAGTAGGTTGACAAGAATTTCACCTGCAACCTTGTCAACCACCTAGAATAAAAGCCTCTGCAGCCCTCCCCTAAAGACTCATCAATGTGAGGCTCAAGAACCTTCTTAGGCTGGGCTCGGTGGCTCATTTCTGTAATCCCTGCACTTTGGAAGGCTGAGGCAGGAGGATCTCTTGAGGCCAGGAGTTCAAGACAAGCCTGGGCAACATAGCCAGACCTCTGTTTCTATCCCCCACAAAAAGAACCTTCTTAAACCGGAATTGAGTCCTACAACCTCGATAACTCACAAATAAGCCCGTGTGGCCTCTCACAGACTTGGGAAGTTCTCCAAGTGTCCAGGGAGATGTGCCAGGCGCTTTCCTGCCGTGACCACCGTCCTCTGCCTGCTCCATTTCTTGGTGGCCTTCCTTTAGACCTGGGCCTCACTCTTGCTTCTCTCCTGCAGCTCTGGGCGACGTTGCTGGCAGAGGAAATGAGAAGAAGCCCAGTAGCGTGAGGGCTCTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCCCAGCGTCCCCCAGGTCACAGCCTCCCGCTATGTGACCTCGTGCCTGGCTGGTTGGGCCTGTTCACTTTTTCTCCTGGACAGGGAACAGCCCCACTGGTGTCCTTTATCACCCCCACGGCCTCTCCTGGCTTGGGGCTGACAGTGACAAGATCAGACAGCTAAGGGGTCAGATGGAGGATGTGGAGCTGGGTCCCGTGCTGTGGAATAGCCTCACCGAGATTTGAGTGCCTTCTGGGGAACTGGTTCCCTTGCAGGGGGCTGTGTGGAGAGGCGCGCTCTCCCTGCCTCACCCATGCTCATCCTAACTCGGTTACCATCACATCTCTTTTTTCTTTTTTTCTTAAATTTTAAGAAAAAAGAAATTTAATTTTTTTGAGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACCATCATGCCTCGCTGCAGCCTCAATGTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGTGCAAGCCACTATACCCCACTTCCTATTTCTTAAAAAGTCACAGCCCTGTGTGTGGCTAATCCTGGACAGAAATCTAGAAGAAGTCAGCTACTTCTGGGGCGTGGCTCACCCAGTGGGCTTCAGGTTAGATATTTCTTATACTTATGAGGCTGGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGTGGATTGCTTGGGCTCAGGAGTTCGAGACCAACCTGGGCAACATGGCGAAACCCTGTTTCTAGAAAAGGTACAAAAATTAGCTGGGCAGGTGGCACGTGCCTGTGGTACCAGCTACTTGAGGGCCTGAGGCAGGAGGATCGCTTGAACCTGGGAGGTCGAGGTTGCAGTGAACTGAGATCATGTCACTGCACTCCAGCCTGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAAAAAAGAAAGAAAAAAATTCTTATGCATAGATTTGCCTCTTTTCTGTTTGTTTGTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGCTCAACCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGACTGGGTTTCATCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCAGGCCCAGGCCGCAAGGCGATCTCTAAACAAACATAAAAGACCAGGAGTCAAGGTTATGGTACGATGCCCGTGTTTTCACTCCAGCCACGGAGCTGGGTCTCTGGTCTCGGGGGCAGCTGTGTGACAGAGCGTGCCTCTCCCTACAGTGCTCCTCGTCTTCCTTTGCCTGGGGGTCTTCCTTCTATGGAAGAACTGGCGGCTTAAGAAAGAACATCAACAGCATCAACTTTGACAACCCCGTCTATCAGAAGACCACAGAGGATGAGGTCCACATTTGCCACAACCAGGACGGCTACAGCTACCCCTCGGTGAGTGACCCTCTCTAGAAAGCCAGAGCCCATGGCGGCCCCCTCCCAGCTGGAGGCATATGATCCTCAAGGGACCAGGCCGAGGCTTCCCCAGCCCTCCAGATCGAGGACAGCATTAGGTGAATGCTTCTGTGCGCTCATTCAGAATGTCAGCGGACAATGGCCTTGGTGGTGTAGAGGAATGTTGGATAAGCAAATAGAGAGCTCCATCAGATGGTGACAGGGCAAAGAAAGTCAAAAGGAGTTCAGAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGGACTTTGGGAGGCCGAGGCTGGCGGATCACCTGAAGTCAGGAGTTTGAGACCAGCTTGGCCATCATGACAAAACCCCGTCTCTATTAAAAATACAAAAAATTAGCCAGGCGTGGGAGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCCGAGGTAGAAAAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCCGGGAGGCAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGGAGTTCAGAGGCCCGGCATGGTGGTTCACACATGTGATCCCAGAACTTGGGGAGGTTGAGGCAGGAGAATCACCTGAGCTCAGAGTTCAAGACCAGCCTGGGCAGCACAGCAAGACCCCATCTCTGCAAAAAATAAAAATTTAGCCCAGTGTGGTGATGAGCGCCTAGTTCCAGCTACTAGGGAGGCTAAGGCAGGAGGATTGCTTGAGGCTAAGGTAGGAGATTGAGACTGCAGTGACTTGTGATTGCGTCACTGCGCTCCAGCCTGGGTGACAGAGCAAGCCCTTGTCTCTTAAAAAAAAAAAAAAATTCAAAGAAGGGTTTCCAGAGGGCCAGGAGGGAGGAAGGGAGAGGAGGTGTTTTATTTTTTTGCTTTTATTTTTTATTTTGAGACAGAGTCTCTCTCTGTCACCCAGGTTGGAGTGCAGTGCTGTGATCTTGGCTCACTGCAACTTCTGCCTCCTGGGTTCAAGCAATTCTTATGCCTCAGCCTCAGCCTCCTGAGTAGCTGGGATTACAACACTATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCGCCATGTTGCCCAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCCACGTGCTGGGATTGCAGGCGTGAGCCACTGCGCCCGCCTTGATCTTTACACAAGGGGTTTAGGGTAGGTAGCCTTCTCTGAACCAGGAGAACAGCCTGTGCGAAGGCCCTGAGGCTGGACCGTGCCTGTTGGGTTTGAGGCCGTTGTAGCTGGAGCAAACAGAGAGAGGGGTAAAAAGGCAGGAGGCTACCAGGCAGGTTGTGCAGAGCCTTGTGGGCCACTGGGGAGGACTTTGGCTTTTGCCCTGAGAGCGGTGGGAAGTGACTGAATCCGGTACTCACCGTCTCCCTCTGGCGGCTCCTGGGGGAACATGCTTGGGGATCAGGCTGGGGGAGGCTGCCAGGCCCAGGAGGTGAGAAGTAGGTGGCCTCCAGCCGTGTTTCCTGAATGCTGGACTGATAGTTTCCGCTGTTTACCATTTGTTGGCAGAGACAGATGGTCAGTCTGGAGGATGACGTGGCGTGAACATCTGCCTGGAGTCCCGTCCCTGCCCAGAACCCTTCCTGAGACCTCGCCGGCCTTGTTTTATTCAAAGACAGAGAAGACCAAAGCATTGCCTGCCAGAGCTTTGTTTTATATATTTATTCATCTGGGAGGCAGAACAGGCTTCGGACAGTGCCCATGCAATGGCTTGGGTTGGGATTTTGGTTTCTTCCTTTCCTCGTGAAGGATAAGAGAAACAGGCCCGGGGGGACCAGGATGACACCTCCATTTCTCTCCAGGAAGTTTTGAGTTTCTCTCCACCGTGACACAATCCTCA | pathogenic | 298,792 |
Classify the chromosome 19 variant at position 11129597 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'] | TTTAATAAAATGCACAAGTAGGTTGACAAGAATTTCACCTGCAACCTTGTCAACCACCTAGAATAAAAGCCTCTGCAGCCCTCCCCTAAAGACTCATCAATGTGAGGCTCAAGAACCTTCTTAGGCTGGGCTCGGTGGCTCATTTCTGTAATCCCTGCACTTTGGAAGGCTGAGGCAGGAGGATCTCTTGAGGCCAGGAGTTCAAGACAAGCCTGGGCAACATAGCCAGACCTCTGTTTCTATCCCCCACAAAAAGAACCTTCTTAAACCGGAATTGAGTCCTACAACCTCGATAACTCACAAATAAGCCCGTGTGGCCTCTCACAGACTTGGGAAGTTCTCCAAGTGTCCAGGGAGATGTGCCAGGCGCTTTCCTGCCGTGACCACCGTCCTCTGCCTGCTCCATTTCTTGGTGGCCTTCCTTTAGACCTGGGCCTCACTCTTGCTTCTCTCCTGCAGCTCTGGGCGACGTTGCTGGCAGAGGAAATGAGAAGAAGCCCAGTAGCGTGAGGGCTCTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCCCAGCGTCCCCCAGGTCACAGCCTCCCGCTATGTGACCTCGTGCCTGGCTGGTTGGGCCTGTTCACTTTTTCTCCTGGACAGGGAACAGCCCCACTGGTGTCCTTTATCACCCCCACGGCCTCTCCTGGCTTGGGGCTGACAGTGACAAGATCAGACAGCTAAGGGGTCAGATGGAGGATGTGGAGCTGGGTCCCGTGCTGTGGAATAGCCTCACCGAGATTTGAGTGCCTTCTGGGGAACTGGTTCCCTTGCAGGGGGCTGTGTGGAGAGGCGCGCTCTCCCTGCCTCACCCATGCTCATCCTAACTCGGTTACCATCACATCTCTTTTTTCTTTTTTTCTTAAATTTTAAGAAAAAAGAAATTTAATTTTTTTGAGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACCATCATGCCTCGCTGCAGCCTCAATGTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGTGCAAGCCACTATACCCCACTTCCTATTTCTTAAAAAGTCACAGCCCTGTGTGTGGCTAATCCTGGACAGAAATCTAGAAGAAGTCAGCTACTTCTGGGGCGTGGCTCACCCAGTGGGCTTCAGGTTAGATATTTCTTATACTTATGAGGCTGGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGTGGATTGCTTGGGCTCAGGAGTTCGAGACCAACCTGGGCAACATGGCGAAACCCTGTTTCTAGAAAAGGTACAAAAATTAGCTGGGCAGGTGGCACGTGCCTGTGGTACCAGCTACTTGAGGGCCTGAGGCAGGAGGATCGCTTGAACCTGGGAGGTCGAGGTTGCAGTGAACTGAGATCATGTCACTGCACTCCAGCCTGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAAAAAAGAAAGAAAAAAATTCTTATGCATAGATTTGCCTCTTTTCTGTTTGTTTGTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGCTCAACCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGACTGGGTTTCATCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCAGGCCCAGGCCGCAAGGCGATCTCTAAACAAACATAAAAGACCAGGAGTCAAGGTTATGGTACGATGCCCGTGTTTTCACTCCAGCCACGGAGCTGGGTCTCTGGTCTCGGGGGCAGCTGTGTGACAGAGCGTGCCTCTCCCTACAGTGCTCCTCGTCTTCCTTTGCCTGGGGGTCTTCCTTCTATGGAAGAACTGGCGGCTTAAGAACATCAACAGCATCAACTTTGACAACCCCGTCTATCAGAAGACCACAGAGGATGAGGTCCACATTTGCCACAACCAGGACGGCTACAGCTACCCCTCGGTGAGTGACCCTCTCTAGAAAGCCAGAGCCCATGGCGGCCCCCTCCCAGCTGGAGGCATATGATCCTCAAGGGACCAGGCCGAGGCTTCCCCAGCCCTCCAGATCGAGGACAGCATTAGGTGAATGCTTCTGTGCGCTCATTCAGAATGTCAGCGGACAATGGCCTTGGTGGTGTAGAGGAATGTTGGATAAGCAAATAGAGAGCTCCATCAGATGGTGACAGGGCAAAGAAAGTCAAAAGGAGTTCAGAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGGACTTTGGGAGGCCGAGGCTGGCGGATCACCTGAAGTCAGGAGTTTGAGACCAGCTTGGCCATCATGACAAAACCCCGTCTCTATTAAAAATACAAAAAATTAGCCAGGCGTGGGAGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCCGAGGTAGAAAAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCCGGGAGGCAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGGAGTTCAGAGGCCCGGCATGGTGGTTCACACATGTGATCCCAGAACTTGGGGAGGTTGAGGCAGGAGAATCACCTGAGCTCAGAGTTCAAGACCAGCCTGGGCAGCACAGCAAGACCCCATCTCTGCAAAAAATAAAAATTTAGCCCAGTGTGGTGATGAGCGCCTAGTTCCAGCTACTAGGGAGGCTAAGGCAGGAGGATTGCTTGAGGCTAAGGTAGGAGATTGAGACTGCAGTGACTTGTGATTGCGTCACTGCGCTCCAGCCTGGGTGACAGAGCAAGCCCTTGTCTCTTAAAAAAAAAAAAAAATTCAAAGAAGGGTTTCCAGAGGGCCAGGAGGGAGGAAGGGAGAGGAGGTGTTTTATTTTTTTGCTTTTATTTTTTATTTTGAGACAGAGTCTCTCTCTGTCACCCAGGTTGGAGTGCAGTGCTGTGATCTTGGCTCACTGCAACTTCTGCCTCCTGGGTTCAAGCAATTCTTATGCCTCAGCCTCAGCCTCCTGAGTAGCTGGGATTACAACACTATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCGCCATGTTGCCCAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCCACGTGCTGGGATTGCAGGCGTGAGCCACTGCGCCCGCCTTGATCTTTACACAAGGGGTTTAGGGTAGGTAGCCTTCTCTGAACCAGGAGAACAGCCTGTGCGAAGGCCCTGAGGCTGGACCGTGCCTGTTGGGTTTGAGGCCGTTGTAGCTGGAGCAAACAGAGAGAGGGGTAAAAAGGCAGGAGGCTACCAGGCAGGTTGTGCAGAGCCTTGTGGGCCACTGGGGAGGACTTTGGCTTTTGCCCTGAGAGCGGTGGGAAGTGACTGAATCCGGTACTCACCGTCTCCCTCTGGCGGCTCCTGGGGGAACATGCTTGGGGATCAGGCTGGGGGAGGCTGCCAGGCCCAGGAGGTGAGAAGTAGGTGGCCTCCAGCCGTGTTTCCTGAATGCTGGACTGATAGTTTCCGCTGTTTACCATTTGTTGGCAGAGACAGATGGTCAGTCTGGAGGATGACGTGGCGTGAACATCTGCCTGGAGTCCCGTCCCTGCCCAGAACCCTTCCTGAGACCTCGCCGGCCTTGTTTTATTCAAAGACAGAGAAGACCAAAGCATTGCCTGCCAGAGCTTTGTTTTATATATTTATTCATCTGGGAGGCAGAACAGGCTTCGGACAGTGCCCATGCAATGGCTTGGGTTGGGATTTTGGTTTCTTCCTTTCCTCGTGAAGGATAAGAGAAACAGGCCCGGGGGGACCAGGATGACACCTCCATTTCTCTCCAGGAAGTTTTGAGTTTCTCTCCACCGTGACACAATCCTCAAACATGGAAGATGAAAGGGGAGGGGATGTCAGG | TTTAATAAAATGCACAAGTAGGTTGACAAGAATTTCACCTGCAACCTTGTCAACCACCTAGAATAAAAGCCTCTGCAGCCCTCCCCTAAAGACTCATCAATGTGAGGCTCAAGAACCTTCTTAGGCTGGGCTCGGTGGCTCATTTCTGTAATCCCTGCACTTTGGAAGGCTGAGGCAGGAGGATCTCTTGAGGCCAGGAGTTCAAGACAAGCCTGGGCAACATAGCCAGACCTCTGTTTCTATCCCCCACAAAAAGAACCTTCTTAAACCGGAATTGAGTCCTACAACCTCGATAACTCACAAATAAGCCCGTGTGGCCTCTCACAGACTTGGGAAGTTCTCCAAGTGTCCAGGGAGATGTGCCAGGCGCTTTCCTGCCGTGACCACCGTCCTCTGCCTGCTCCATTTCTTGGTGGCCTTCCTTTAGACCTGGGCCTCACTCTTGCTTCTCTCCTGCAGCTCTGGGCGACGTTGCTGGCAGAGGAAATGAGAAGAAGCCCAGTAGCGTGAGGGCTCTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCCCAGCGTCCCCCAGGTCACAGCCTCCCGCTATGTGACCTCGTGCCTGGCTGGTTGGGCCTGTTCACTTTTTCTCCTGGACAGGGAACAGCCCCACTGGTGTCCTTTATCACCCCCACGGCCTCTCCTGGCTTGGGGCTGACAGTGACAAGATCAGACAGCTAAGGGGTCAGATGGAGGATGTGGAGCTGGGTCCCGTGCTGTGGAATAGCCTCACCGAGATTTGAGTGCCTTCTGGGGAACTGGTTCCCTTGCAGGGGGCTGTGTGGAGAGGCGCGCTCTCCCTGCCTCACCCATGCTCATCCTAACTCGGTTACCATCACATCTCTTTTTTCTTTTTTTCTTAAATTTTAAGAAAAAAGAAATTTAATTTTTTTGAGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACCATCATGCCTCGCTGCAGCCTCAATGTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGTGCAAGCCACTATACCCCACTTCCTATTTCTTAAAAAGTCACAGCCCTGTGTGTGGCTAATCCTGGACAGAAATCTAGAAGAAGTCAGCTACTTCTGGGGCGTGGCTCACCCAGTGGGCTTCAGGTTAGATATTTCTTATACTTATGAGGCTGGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGTGGATTGCTTGGGCTCAGGAGTTCGAGACCAACCTGGGCAACATGGCGAAACCCTGTTTCTAGAAAAGGTACAAAAATTAGCTGGGCAGGTGGCACGTGCCTGTGGTACCAGCTACTTGAGGGCCTGAGGCAGGAGGATCGCTTGAACCTGGGAGGTCGAGGTTGCAGTGAACTGAGATCATGTCACTGCACTCCAGCCTGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAAAAAAGAAAGAAAAAAATTCTTATGCATAGATTTGCCTCTTTTCTGTTTGTTTGTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGCTCAACCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGACTGGGTTTCATCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCAGGCCCAGGCCGCAAGGCGATCTCTAAACAAACATAAAAGACCAGGAGTCAAGGTTATGGTACGATGCCCGTGTTTTCACTCCAGCCACGGAGCTGGGTCTCTGGTCTCGGGGGCAGCTGTGTGACAGAGCGTGCCTCTCCCTACAGTGCTCCTCGTCTTCCTTTGCCTGGGGGTCTTCCTTCTATGGAAGAACTGGCGGCTTAAGAACATCAACAGCATCAACTTTGACAACCCGTCTATCAGAAGACCACAGAGGATGAGGTCCACATTTGCCACAACCAGGACGGCTACAGCTACCCCTCGGTGAGTGACCCTCTCTAGAAAGCCAGAGCCCATGGCGGCCCCCTCCCAGCTGGAGGCATATGATCCTCAAGGGACCAGGCCGAGGCTTCCCCAGCCCTCCAGATCGAGGACAGCATTAGGTGAATGCTTCTGTGCGCTCATTCAGAATGTCAGCGGACAATGGCCTTGGTGGTGTAGAGGAATGTTGGATAAGCAAATAGAGAGCTCCATCAGATGGTGACAGGGCAAAGAAAGTCAAAAGGAGTTCAGAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGGACTTTGGGAGGCCGAGGCTGGCGGATCACCTGAAGTCAGGAGTTTGAGACCAGCTTGGCCATCATGACAAAACCCCGTCTCTATTAAAAATACAAAAAATTAGCCAGGCGTGGGAGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCCGAGGTAGAAAAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCCGGGAGGCAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGGAGTTCAGAGGCCCGGCATGGTGGTTCACACATGTGATCCCAGAACTTGGGGAGGTTGAGGCAGGAGAATCACCTGAGCTCAGAGTTCAAGACCAGCCTGGGCAGCACAGCAAGACCCCATCTCTGCAAAAAATAAAAATTTAGCCCAGTGTGGTGATGAGCGCCTAGTTCCAGCTACTAGGGAGGCTAAGGCAGGAGGATTGCTTGAGGCTAAGGTAGGAGATTGAGACTGCAGTGACTTGTGATTGCGTCACTGCGCTCCAGCCTGGGTGACAGAGCAAGCCCTTGTCTCTTAAAAAAAAAAAAAAATTCAAAGAAGGGTTTCCAGAGGGCCAGGAGGGAGGAAGGGAGAGGAGGTGTTTTATTTTTTTGCTTTTATTTTTTATTTTGAGACAGAGTCTCTCTCTGTCACCCAGGTTGGAGTGCAGTGCTGTGATCTTGGCTCACTGCAACTTCTGCCTCCTGGGTTCAAGCAATTCTTATGCCTCAGCCTCAGCCTCCTGAGTAGCTGGGATTACAACACTATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCGCCATGTTGCCCAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCCACGTGCTGGGATTGCAGGCGTGAGCCACTGCGCCCGCCTTGATCTTTACACAAGGGGTTTAGGGTAGGTAGCCTTCTCTGAACCAGGAGAACAGCCTGTGCGAAGGCCCTGAGGCTGGACCGTGCCTGTTGGGTTTGAGGCCGTTGTAGCTGGAGCAAACAGAGAGAGGGGTAAAAAGGCAGGAGGCTACCAGGCAGGTTGTGCAGAGCCTTGTGGGCCACTGGGGAGGACTTTGGCTTTTGCCCTGAGAGCGGTGGGAAGTGACTGAATCCGGTACTCACCGTCTCCCTCTGGCGGCTCCTGGGGGAACATGCTTGGGGATCAGGCTGGGGGAGGCTGCCAGGCCCAGGAGGTGAGAAGTAGGTGGCCTCCAGCCGTGTTTCCTGAATGCTGGACTGATAGTTTCCGCTGTTTACCATTTGTTGGCAGAGACAGATGGTCAGTCTGGAGGATGACGTGGCGTGAACATCTGCCTGGAGTCCCGTCCCTGCCCAGAACCCTTCCTGAGACCTCGCCGGCCTTGTTTTATTCAAAGACAGAGAAGACCAAAGCATTGCCTGCCAGAGCTTTGTTTTATATATTTATTCATCTGGGAGGCAGAACAGGCTTCGGACAGTGCCCATGCAATGGCTTGGGTTGGGATTTTGGTTTCTTCCTTTCCTCGTGAAGGATAAGAGAAACAGGCCCGGGGGGACCAGGATGACACCTCCATTTCTCTCCAGGAAGTTTTGAGTTTCTCTCCACCGTGACACAATCCTCAAACATGGAAGATGAAAGGGGAGGGGATGTCAGGN | pathogenic | 298,797 |
The chromosome 19, position 11129630 genetic variant in gene LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | TTCACCTGCAACCTTGTCAACCACCTAGAATAAAAGCCTCTGCAGCCCTCCCCTAAAGACTCATCAATGTGAGGCTCAAGAACCTTCTTAGGCTGGGCTCGGTGGCTCATTTCTGTAATCCCTGCACTTTGGAAGGCTGAGGCAGGAGGATCTCTTGAGGCCAGGAGTTCAAGACAAGCCTGGGCAACATAGCCAGACCTCTGTTTCTATCCCCCACAAAAAGAACCTTCTTAAACCGGAATTGAGTCCTACAACCTCGATAACTCACAAATAAGCCCGTGTGGCCTCTCACAGACTTGGGAAGTTCTCCAAGTGTCCAGGGAGATGTGCCAGGCGCTTTCCTGCCGTGACCACCGTCCTCTGCCTGCTCCATTTCTTGGTGGCCTTCCTTTAGACCTGGGCCTCACTCTTGCTTCTCTCCTGCAGCTCTGGGCGACGTTGCTGGCAGAGGAAATGAGAAGAAGCCCAGTAGCGTGAGGGCTCTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCCCAGCGTCCCCCAGGTCACAGCCTCCCGCTATGTGACCTCGTGCCTGGCTGGTTGGGCCTGTTCACTTTTTCTCCTGGACAGGGAACAGCCCCACTGGTGTCCTTTATCACCCCCACGGCCTCTCCTGGCTTGGGGCTGACAGTGACAAGATCAGACAGCTAAGGGGTCAGATGGAGGATGTGGAGCTGGGTCCCGTGCTGTGGAATAGCCTCACCGAGATTTGAGTGCCTTCTGGGGAACTGGTTCCCTTGCAGGGGGCTGTGTGGAGAGGCGCGCTCTCCCTGCCTCACCCATGCTCATCCTAACTCGGTTACCATCACATCTCTTTTTTCTTTTTTTCTTAAATTTTAAGAAAAAAGAAATTTAATTTTTTTGAGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACCATCATGCCTCGCTGCAGCCTCAATGTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGTGCAAGCCACTATACCCCACTTCCTATTTCTTAAAAAGTCACAGCCCTGTGTGTGGCTAATCCTGGACAGAAATCTAGAAGAAGTCAGCTACTTCTGGGGCGTGGCTCACCCAGTGGGCTTCAGGTTAGATATTTCTTATACTTATGAGGCTGGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGTGGATTGCTTGGGCTCAGGAGTTCGAGACCAACCTGGGCAACATGGCGAAACCCTGTTTCTAGAAAAGGTACAAAAATTAGCTGGGCAGGTGGCACGTGCCTGTGGTACCAGCTACTTGAGGGCCTGAGGCAGGAGGATCGCTTGAACCTGGGAGGTCGAGGTTGCAGTGAACTGAGATCATGTCACTGCACTCCAGCCTGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAAAAAAGAAAGAAAAAAATTCTTATGCATAGATTTGCCTCTTTTCTGTTTGTTTGTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGCTCAACCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGACTGGGTTTCATCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCAGGCCCAGGCCGCAAGGCGATCTCTAAACAAACATAAAAGACCAGGAGTCAAGGTTATGGTACGATGCCCGTGTTTTCACTCCAGCCACGGAGCTGGGTCTCTGGTCTCGGGGGCAGCTGTGTGACAGAGCGTGCCTCTCCCTACAGTGCTCCTCGTCTTCCTTTGCCTGGGGGTCTTCCTTCTATGGAAGAACTGGCGGCTTAAGAACATCAACAGCATCAACTTTGACAACCCCGTCTATCAGAAGACCACAGAGGATGAGGTCCACATTTGCCACAACCAGGACGGCTACAGCTACCCCTCGGTGAGTGACCCTCTCTAGAAAGCCAGAGCCCATGGCGGCCCCCTCCCAGCTGGAGGCATATGATCCTCAAGGGACCAGGCCGAGGCTTCCCCAGCCCTCCAGATCGAGGACAGCATTAGGTGAATGCTTCTGTGCGCTCATTCAGAATGTCAGCGGACAATGGCCTTGGTGGTGTAGAGGAATGTTGGATAAGCAAATAGAGAGCTCCATCAGATGGTGACAGGGCAAAGAAAGTCAAAAGGAGTTCAGAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGGACTTTGGGAGGCCGAGGCTGGCGGATCACCTGAAGTCAGGAGTTTGAGACCAGCTTGGCCATCATGACAAAACCCCGTCTCTATTAAAAATACAAAAAATTAGCCAGGCGTGGGAGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCCGAGGTAGAAAAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCCGGGAGGCAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGGAGTTCAGAGGCCCGGCATGGTGGTTCACACATGTGATCCCAGAACTTGGGGAGGTTGAGGCAGGAGAATCACCTGAGCTCAGAGTTCAAGACCAGCCTGGGCAGCACAGCAAGACCCCATCTCTGCAAAAAATAAAAATTTAGCCCAGTGTGGTGATGAGCGCCTAGTTCCAGCTACTAGGGAGGCTAAGGCAGGAGGATTGCTTGAGGCTAAGGTAGGAGATTGAGACTGCAGTGACTTGTGATTGCGTCACTGCGCTCCAGCCTGGGTGACAGAGCAAGCCCTTGTCTCTTAAAAAAAAAAAAAAATTCAAAGAAGGGTTTCCAGAGGGCCAGGAGGGAGGAAGGGAGAGGAGGTGTTTTATTTTTTTGCTTTTATTTTTTATTTTGAGACAGAGTCTCTCTCTGTCACCCAGGTTGGAGTGCAGTGCTGTGATCTTGGCTCACTGCAACTTCTGCCTCCTGGGTTCAAGCAATTCTTATGCCTCAGCCTCAGCCTCCTGAGTAGCTGGGATTACAACACTATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCGCCATGTTGCCCAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCCACGTGCTGGGATTGCAGGCGTGAGCCACTGCGCCCGCCTTGATCTTTACACAAGGGGTTTAGGGTAGGTAGCCTTCTCTGAACCAGGAGAACAGCCTGTGCGAAGGCCCTGAGGCTGGACCGTGCCTGTTGGGTTTGAGGCCGTTGTAGCTGGAGCAAACAGAGAGAGGGGTAAAAAGGCAGGAGGCTACCAGGCAGGTTGTGCAGAGCCTTGTGGGCCACTGGGGAGGACTTTGGCTTTTGCCCTGAGAGCGGTGGGAAGTGACTGAATCCGGTACTCACCGTCTCCCTCTGGCGGCTCCTGGGGGAACATGCTTGGGGATCAGGCTGGGGGAGGCTGCCAGGCCCAGGAGGTGAGAAGTAGGTGGCCTCCAGCCGTGTTTCCTGAATGCTGGACTGATAGTTTCCGCTGTTTACCATTTGTTGGCAGAGACAGATGGTCAGTCTGGAGGATGACGTGGCGTGAACATCTGCCTGGAGTCCCGTCCCTGCCCAGAACCCTTCCTGAGACCTCGCCGGCCTTGTTTTATTCAAAGACAGAGAAGACCAAAGCATTGCCTGCCAGAGCTTTGTTTTATATATTTATTCATCTGGGAGGCAGAACAGGCTTCGGACAGTGCCCATGCAATGGCTTGGGTTGGGATTTTGGTTTCTTCCTTTCCTCGTGAAGGATAAGAGAAACAGGCCCGGGGGGACCAGGATGACACCTCCATTTCTCTCCAGGAAGTTTTGAGTTTCTCTCCACCGTGACACAATCCTCAAACATGGAAGATGAAAGGGGAGGGGATGTCAGGCCCAGAGAAGCAAGTGGCTTTCAACACACAACA | TTCACCTGCAACCTTGTCAACCACCTAGAATAAAAGCCTCTGCAGCCCTCCCCTAAAGACTCATCAATGTGAGGCTCAAGAACCTTCTTAGGCTGGGCTCGGTGGCTCATTTCTGTAATCCCTGCACTTTGGAAGGCTGAGGCAGGAGGATCTCTTGAGGCCAGGAGTTCAAGACAAGCCTGGGCAACATAGCCAGACCTCTGTTTCTATCCCCCACAAAAAGAACCTTCTTAAACCGGAATTGAGTCCTACAACCTCGATAACTCACAAATAAGCCCGTGTGGCCTCTCACAGACTTGGGAAGTTCTCCAAGTGTCCAGGGAGATGTGCCAGGCGCTTTCCTGCCGTGACCACCGTCCTCTGCCTGCTCCATTTCTTGGTGGCCTTCCTTTAGACCTGGGCCTCACTCTTGCTTCTCTCCTGCAGCTCTGGGCGACGTTGCTGGCAGAGGAAATGAGAAGAAGCCCAGTAGCGTGAGGGCTCTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCCCAGCGTCCCCCAGGTCACAGCCTCCCGCTATGTGACCTCGTGCCTGGCTGGTTGGGCCTGTTCACTTTTTCTCCTGGACAGGGAACAGCCCCACTGGTGTCCTTTATCACCCCCACGGCCTCTCCTGGCTTGGGGCTGACAGTGACAAGATCAGACAGCTAAGGGGTCAGATGGAGGATGTGGAGCTGGGTCCCGTGCTGTGGAATAGCCTCACCGAGATTTGAGTGCCTTCTGGGGAACTGGTTCCCTTGCAGGGGGCTGTGTGGAGAGGCGCGCTCTCCCTGCCTCACCCATGCTCATCCTAACTCGGTTACCATCACATCTCTTTTTTCTTTTTTTCTTAAATTTTAAGAAAAAAGAAATTTAATTTTTTTGAGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACCATCATGCCTCGCTGCAGCCTCAATGTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGTGCAAGCCACTATACCCCACTTCCTATTTCTTAAAAAGTCACAGCCCTGTGTGTGGCTAATCCTGGACAGAAATCTAGAAGAAGTCAGCTACTTCTGGGGCGTGGCTCACCCAGTGGGCTTCAGGTTAGATATTTCTTATACTTATGAGGCTGGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGTGGATTGCTTGGGCTCAGGAGTTCGAGACCAACCTGGGCAACATGGCGAAACCCTGTTTCTAGAAAAGGTACAAAAATTAGCTGGGCAGGTGGCACGTGCCTGTGGTACCAGCTACTTGAGGGCCTGAGGCAGGAGGATCGCTTGAACCTGGGAGGTCGAGGTTGCAGTGAACTGAGATCATGTCACTGCACTCCAGCCTGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAAAAAAGAAAGAAAAAAATTCTTATGCATAGATTTGCCTCTTTTCTGTTTGTTTGTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGCTCAACCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGACTGGGTTTCATCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCAGGCCCAGGCCGCAAGGCGATCTCTAAACAAACATAAAAGACCAGGAGTCAAGGTTATGGTACGATGCCCGTGTTTTCACTCCAGCCACGGAGCTGGGTCTCTGGTCTCGGGGGCAGCTGTGTGACAGAGCGTGCCTCTCCCTACAGTGCTCCTCGTCTTCCTTTGCCTGGGGGTCTTCCTTCTATGGAAGAACTGGCGGCTTAAGAACATCAACAGCATCAACTTTGACAACCCCGTCTATCAGAAGACCACAGAGGATGAGGTCACATTTGCCACAACCAGGACGGCTACAGCTACCCCTCGGTGAGTGACCCTCTCTAGAAAGCCAGAGCCCATGGCGGCCCCCTCCCAGCTGGAGGCATATGATCCTCAAGGGACCAGGCCGAGGCTTCCCCAGCCCTCCAGATCGAGGACAGCATTAGGTGAATGCTTCTGTGCGCTCATTCAGAATGTCAGCGGACAATGGCCTTGGTGGTGTAGAGGAATGTTGGATAAGCAAATAGAGAGCTCCATCAGATGGTGACAGGGCAAAGAAAGTCAAAAGGAGTTCAGAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGGACTTTGGGAGGCCGAGGCTGGCGGATCACCTGAAGTCAGGAGTTTGAGACCAGCTTGGCCATCATGACAAAACCCCGTCTCTATTAAAAATACAAAAAATTAGCCAGGCGTGGGAGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCCGAGGTAGAAAAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCCGGGAGGCAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGGAGTTCAGAGGCCCGGCATGGTGGTTCACACATGTGATCCCAGAACTTGGGGAGGTTGAGGCAGGAGAATCACCTGAGCTCAGAGTTCAAGACCAGCCTGGGCAGCACAGCAAGACCCCATCTCTGCAAAAAATAAAAATTTAGCCCAGTGTGGTGATGAGCGCCTAGTTCCAGCTACTAGGGAGGCTAAGGCAGGAGGATTGCTTGAGGCTAAGGTAGGAGATTGAGACTGCAGTGACTTGTGATTGCGTCACTGCGCTCCAGCCTGGGTGACAGAGCAAGCCCTTGTCTCTTAAAAAAAAAAAAAAATTCAAAGAAGGGTTTCCAGAGGGCCAGGAGGGAGGAAGGGAGAGGAGGTGTTTTATTTTTTTGCTTTTATTTTTTATTTTGAGACAGAGTCTCTCTCTGTCACCCAGGTTGGAGTGCAGTGCTGTGATCTTGGCTCACTGCAACTTCTGCCTCCTGGGTTCAAGCAATTCTTATGCCTCAGCCTCAGCCTCCTGAGTAGCTGGGATTACAACACTATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCGCCATGTTGCCCAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCCACGTGCTGGGATTGCAGGCGTGAGCCACTGCGCCCGCCTTGATCTTTACACAAGGGGTTTAGGGTAGGTAGCCTTCTCTGAACCAGGAGAACAGCCTGTGCGAAGGCCCTGAGGCTGGACCGTGCCTGTTGGGTTTGAGGCCGTTGTAGCTGGAGCAAACAGAGAGAGGGGTAAAAAGGCAGGAGGCTACCAGGCAGGTTGTGCAGAGCCTTGTGGGCCACTGGGGAGGACTTTGGCTTTTGCCCTGAGAGCGGTGGGAAGTGACTGAATCCGGTACTCACCGTCTCCCTCTGGCGGCTCCTGGGGGAACATGCTTGGGGATCAGGCTGGGGGAGGCTGCCAGGCCCAGGAGGTGAGAAGTAGGTGGCCTCCAGCCGTGTTTCCTGAATGCTGGACTGATAGTTTCCGCTGTTTACCATTTGTTGGCAGAGACAGATGGTCAGTCTGGAGGATGACGTGGCGTGAACATCTGCCTGGAGTCCCGTCCCTGCCCAGAACCCTTCCTGAGACCTCGCCGGCCTTGTTTTATTCAAAGACAGAGAAGACCAAAGCATTGCCTGCCAGAGCTTTGTTTTATATATTTATTCATCTGGGAGGCAGAACAGGCTTCGGACAGTGCCCATGCAATGGCTTGGGTTGGGATTTTGGTTTCTTCCTTTCCTCGTGAAGGATAAGAGAAACAGGCCCGGGGGGACCAGGATGACACCTCCATTTCTCTCCAGGAAGTTTTGAGTTTCTCTCCACCGTGACACAATCCTCAAACATGGAAGATGAAAGGGGAGGGGATGTCAGGCCCAGAGAAGCAAGTGGCTTTCAACACACAACAN | pathogenic | 298,806 |
The chromosome 19, position 11129663 genetic variant in gene LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | AAGCCTCTGCAGCCCTCCCCTAAAGACTCATCAATGTGAGGCTCAAGAACCTTCTTAGGCTGGGCTCGGTGGCTCATTTCTGTAATCCCTGCACTTTGGAAGGCTGAGGCAGGAGGATCTCTTGAGGCCAGGAGTTCAAGACAAGCCTGGGCAACATAGCCAGACCTCTGTTTCTATCCCCCACAAAAAGAACCTTCTTAAACCGGAATTGAGTCCTACAACCTCGATAACTCACAAATAAGCCCGTGTGGCCTCTCACAGACTTGGGAAGTTCTCCAAGTGTCCAGGGAGATGTGCCAGGCGCTTTCCTGCCGTGACCACCGTCCTCTGCCTGCTCCATTTCTTGGTGGCCTTCCTTTAGACCTGGGCCTCACTCTTGCTTCTCTCCTGCAGCTCTGGGCGACGTTGCTGGCAGAGGAAATGAGAAGAAGCCCAGTAGCGTGAGGGCTCTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCCCAGCGTCCCCCAGGTCACAGCCTCCCGCTATGTGACCTCGTGCCTGGCTGGTTGGGCCTGTTCACTTTTTCTCCTGGACAGGGAACAGCCCCACTGGTGTCCTTTATCACCCCCACGGCCTCTCCTGGCTTGGGGCTGACAGTGACAAGATCAGACAGCTAAGGGGTCAGATGGAGGATGTGGAGCTGGGTCCCGTGCTGTGGAATAGCCTCACCGAGATTTGAGTGCCTTCTGGGGAACTGGTTCCCTTGCAGGGGGCTGTGTGGAGAGGCGCGCTCTCCCTGCCTCACCCATGCTCATCCTAACTCGGTTACCATCACATCTCTTTTTTCTTTTTTTCTTAAATTTTAAGAAAAAAGAAATTTAATTTTTTTGAGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACCATCATGCCTCGCTGCAGCCTCAATGTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGTGCAAGCCACTATACCCCACTTCCTATTTCTTAAAAAGTCACAGCCCTGTGTGTGGCTAATCCTGGACAGAAATCTAGAAGAAGTCAGCTACTTCTGGGGCGTGGCTCACCCAGTGGGCTTCAGGTTAGATATTTCTTATACTTATGAGGCTGGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGTGGATTGCTTGGGCTCAGGAGTTCGAGACCAACCTGGGCAACATGGCGAAACCCTGTTTCTAGAAAAGGTACAAAAATTAGCTGGGCAGGTGGCACGTGCCTGTGGTACCAGCTACTTGAGGGCCTGAGGCAGGAGGATCGCTTGAACCTGGGAGGTCGAGGTTGCAGTGAACTGAGATCATGTCACTGCACTCCAGCCTGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAAAAAAGAAAGAAAAAAATTCTTATGCATAGATTTGCCTCTTTTCTGTTTGTTTGTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGCTCAACCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGACTGGGTTTCATCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCAGGCCCAGGCCGCAAGGCGATCTCTAAACAAACATAAAAGACCAGGAGTCAAGGTTATGGTACGATGCCCGTGTTTTCACTCCAGCCACGGAGCTGGGTCTCTGGTCTCGGGGGCAGCTGTGTGACAGAGCGTGCCTCTCCCTACAGTGCTCCTCGTCTTCCTTTGCCTGGGGGTCTTCCTTCTATGGAAGAACTGGCGGCTTAAGAACATCAACAGCATCAACTTTGACAACCCCGTCTATCAGAAGACCACAGAGGATGAGGTCCACATTTGCCACAACCAGGACGGCTACAGCTACCCCTCGGTGAGTGACCCTCTCTAGAAAGCCAGAGCCCATGGCGGCCCCCTCCCAGCTGGAGGCATATGATCCTCAAGGGACCAGGCCGAGGCTTCCCCAGCCCTCCAGATCGAGGACAGCATTAGGTGAATGCTTCTGTGCGCTCATTCAGAATGTCAGCGGACAATGGCCTTGGTGGTGTAGAGGAATGTTGGATAAGCAAATAGAGAGCTCCATCAGATGGTGACAGGGCAAAGAAAGTCAAAAGGAGTTCAGAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGGACTTTGGGAGGCCGAGGCTGGCGGATCACCTGAAGTCAGGAGTTTGAGACCAGCTTGGCCATCATGACAAAACCCCGTCTCTATTAAAAATACAAAAAATTAGCCAGGCGTGGGAGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCCGAGGTAGAAAAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCCGGGAGGCAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGGAGTTCAGAGGCCCGGCATGGTGGTTCACACATGTGATCCCAGAACTTGGGGAGGTTGAGGCAGGAGAATCACCTGAGCTCAGAGTTCAAGACCAGCCTGGGCAGCACAGCAAGACCCCATCTCTGCAAAAAATAAAAATTTAGCCCAGTGTGGTGATGAGCGCCTAGTTCCAGCTACTAGGGAGGCTAAGGCAGGAGGATTGCTTGAGGCTAAGGTAGGAGATTGAGACTGCAGTGACTTGTGATTGCGTCACTGCGCTCCAGCCTGGGTGACAGAGCAAGCCCTTGTCTCTTAAAAAAAAAAAAAAATTCAAAGAAGGGTTTCCAGAGGGCCAGGAGGGAGGAAGGGAGAGGAGGTGTTTTATTTTTTTGCTTTTATTTTTTATTTTGAGACAGAGTCTCTCTCTGTCACCCAGGTTGGAGTGCAGTGCTGTGATCTTGGCTCACTGCAACTTCTGCCTCCTGGGTTCAAGCAATTCTTATGCCTCAGCCTCAGCCTCCTGAGTAGCTGGGATTACAACACTATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCGCCATGTTGCCCAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCCACGTGCTGGGATTGCAGGCGTGAGCCACTGCGCCCGCCTTGATCTTTACACAAGGGGTTTAGGGTAGGTAGCCTTCTCTGAACCAGGAGAACAGCCTGTGCGAAGGCCCTGAGGCTGGACCGTGCCTGTTGGGTTTGAGGCCGTTGTAGCTGGAGCAAACAGAGAGAGGGGTAAAAAGGCAGGAGGCTACCAGGCAGGTTGTGCAGAGCCTTGTGGGCCACTGGGGAGGACTTTGGCTTTTGCCCTGAGAGCGGTGGGAAGTGACTGAATCCGGTACTCACCGTCTCCCTCTGGCGGCTCCTGGGGGAACATGCTTGGGGATCAGGCTGGGGGAGGCTGCCAGGCCCAGGAGGTGAGAAGTAGGTGGCCTCCAGCCGTGTTTCCTGAATGCTGGACTGATAGTTTCCGCTGTTTACCATTTGTTGGCAGAGACAGATGGTCAGTCTGGAGGATGACGTGGCGTGAACATCTGCCTGGAGTCCCGTCCCTGCCCAGAACCCTTCCTGAGACCTCGCCGGCCTTGTTTTATTCAAAGACAGAGAAGACCAAAGCATTGCCTGCCAGAGCTTTGTTTTATATATTTATTCATCTGGGAGGCAGAACAGGCTTCGGACAGTGCCCATGCAATGGCTTGGGTTGGGATTTTGGTTTCTTCCTTTCCTCGTGAAGGATAAGAGAAACAGGCCCGGGGGGACCAGGATGACACCTCCATTTCTCTCCAGGAAGTTTTGAGTTTCTCTCCACCGTGACACAATCCTCAAACATGGAAGATGAAAGGGGAGGGGATGTCAGGCCCAGAGAAGCAAGTGGCTTTCAACACACAACAGCAGATGGCACCAACGGGACCCCCTGGCCCTGC | AAGCCTCTGCAGCCCTCCCCTAAAGACTCATCAATGTGAGGCTCAAGAACCTTCTTAGGCTGGGCTCGGTGGCTCATTTCTGTAATCCCTGCACTTTGGAAGGCTGAGGCAGGAGGATCTCTTGAGGCCAGGAGTTCAAGACAAGCCTGGGCAACATAGCCAGACCTCTGTTTCTATCCCCCACAAAAAGAACCTTCTTAAACCGGAATTGAGTCCTACAACCTCGATAACTCACAAATAAGCCCGTGTGGCCTCTCACAGACTTGGGAAGTTCTCCAAGTGTCCAGGGAGATGTGCCAGGCGCTTTCCTGCCGTGACCACCGTCCTCTGCCTGCTCCATTTCTTGGTGGCCTTCCTTTAGACCTGGGCCTCACTCTTGCTTCTCTCCTGCAGCTCTGGGCGACGTTGCTGGCAGAGGAAATGAGAAGAAGCCCAGTAGCGTGAGGGCTCTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCCCAGCGTCCCCCAGGTCACAGCCTCCCGCTATGTGACCTCGTGCCTGGCTGGTTGGGCCTGTTCACTTTTTCTCCTGGACAGGGAACAGCCCCACTGGTGTCCTTTATCACCCCCACGGCCTCTCCTGGCTTGGGGCTGACAGTGACAAGATCAGACAGCTAAGGGGTCAGATGGAGGATGTGGAGCTGGGTCCCGTGCTGTGGAATAGCCTCACCGAGATTTGAGTGCCTTCTGGGGAACTGGTTCCCTTGCAGGGGGCTGTGTGGAGAGGCGCGCTCTCCCTGCCTCACCCATGCTCATCCTAACTCGGTTACCATCACATCTCTTTTTTCTTTTTTTCTTAAATTTTAAGAAAAAAGAAATTTAATTTTTTTGAGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACCATCATGCCTCGCTGCAGCCTCAATGTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGTGCAAGCCACTATACCCCACTTCCTATTTCTTAAAAAGTCACAGCCCTGTGTGTGGCTAATCCTGGACAGAAATCTAGAAGAAGTCAGCTACTTCTGGGGCGTGGCTCACCCAGTGGGCTTCAGGTTAGATATTTCTTATACTTATGAGGCTGGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGTGGATTGCTTGGGCTCAGGAGTTCGAGACCAACCTGGGCAACATGGCGAAACCCTGTTTCTAGAAAAGGTACAAAAATTAGCTGGGCAGGTGGCACGTGCCTGTGGTACCAGCTACTTGAGGGCCTGAGGCAGGAGGATCGCTTGAACCTGGGAGGTCGAGGTTGCAGTGAACTGAGATCATGTCACTGCACTCCAGCCTGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAAAAAAGAAAGAAAAAAATTCTTATGCATAGATTTGCCTCTTTTCTGTTTGTTTGTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGCTCAACCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGACTGGGTTTCATCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCAGGCCCAGGCCGCAAGGCGATCTCTAAACAAACATAAAAGACCAGGAGTCAAGGTTATGGTACGATGCCCGTGTTTTCACTCCAGCCACGGAGCTGGGTCTCTGGTCTCGGGGGCAGCTGTGTGACAGAGCGTGCCTCTCCCTACAGTGCTCCTCGTCTTCCTTTGCCTGGGGGTCTTCCTTCTATGGAAGAACTGGCGGCTTAAGAACATCAACAGCATCAACTTTGACAACCCCGTCTATCAGAAGACCACAGAGGATGAGGTCCACATTTGCCACAACCAGGACGGCTACAGCTACCCCCTCGGTGAGTGACCCTCTCTAGAAAGCCAGAGCCCATGGCGGCCCCCTCCCAGCTGGAGGCATATGATCCTCAAGGGACCAGGCCGAGGCTTCCCCAGCCCTCCAGATCGAGGACAGCATTAGGTGAATGCTTCTGTGCGCTCATTCAGAATGTCAGCGGACAATGGCCTTGGTGGTGTAGAGGAATGTTGGATAAGCAAATAGAGAGCTCCATCAGATGGTGACAGGGCAAAGAAAGTCAAAAGGAGTTCAGAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGGACTTTGGGAGGCCGAGGCTGGCGGATCACCTGAAGTCAGGAGTTTGAGACCAGCTTGGCCATCATGACAAAACCCCGTCTCTATTAAAAATACAAAAAATTAGCCAGGCGTGGGAGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCCGAGGTAGAAAAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCCGGGAGGCAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGGAGTTCAGAGGCCCGGCATGGTGGTTCACACATGTGATCCCAGAACTTGGGGAGGTTGAGGCAGGAGAATCACCTGAGCTCAGAGTTCAAGACCAGCCTGGGCAGCACAGCAAGACCCCATCTCTGCAAAAAATAAAAATTTAGCCCAGTGTGGTGATGAGCGCCTAGTTCCAGCTACTAGGGAGGCTAAGGCAGGAGGATTGCTTGAGGCTAAGGTAGGAGATTGAGACTGCAGTGACTTGTGATTGCGTCACTGCGCTCCAGCCTGGGTGACAGAGCAAGCCCTTGTCTCTTAAAAAAAAAAAAAAATTCAAAGAAGGGTTTCCAGAGGGCCAGGAGGGAGGAAGGGAGAGGAGGTGTTTTATTTTTTTGCTTTTATTTTTTATTTTGAGACAGAGTCTCTCTCTGTCACCCAGGTTGGAGTGCAGTGCTGTGATCTTGGCTCACTGCAACTTCTGCCTCCTGGGTTCAAGCAATTCTTATGCCTCAGCCTCAGCCTCCTGAGTAGCTGGGATTACAACACTATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCGCCATGTTGCCCAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCCACGTGCTGGGATTGCAGGCGTGAGCCACTGCGCCCGCCTTGATCTTTACACAAGGGGTTTAGGGTAGGTAGCCTTCTCTGAACCAGGAGAACAGCCTGTGCGAAGGCCCTGAGGCTGGACCGTGCCTGTTGGGTTTGAGGCCGTTGTAGCTGGAGCAAACAGAGAGAGGGGTAAAAAGGCAGGAGGCTACCAGGCAGGTTGTGCAGAGCCTTGTGGGCCACTGGGGAGGACTTTGGCTTTTGCCCTGAGAGCGGTGGGAAGTGACTGAATCCGGTACTCACCGTCTCCCTCTGGCGGCTCCTGGGGGAACATGCTTGGGGATCAGGCTGGGGGAGGCTGCCAGGCCCAGGAGGTGAGAAGTAGGTGGCCTCCAGCCGTGTTTCCTGAATGCTGGACTGATAGTTTCCGCTGTTTACCATTTGTTGGCAGAGACAGATGGTCAGTCTGGAGGATGACGTGGCGTGAACATCTGCCTGGAGTCCCGTCCCTGCCCAGAACCCTTCCTGAGACCTCGCCGGCCTTGTTTTATTCAAAGACAGAGAAGACCAAAGCATTGCCTGCCAGAGCTTTGTTTTATATATTTATTCATCTGGGAGGCAGAACAGGCTTCGGACAGTGCCCATGCAATGGCTTGGGTTGGGATTTTGGTTTCTTCCTTTCCTCGTGAAGGATAAGAGAAACAGGCCCGGGGGGACCAGGATGACACCTCCATTTCTCTCCAGGAAGTTTTGAGTTTCTCTCCACCGTGACACAATCCTCAAACATGGAAGATGAAAGGGGAGGGGATGTCAGGCCCAGAGAAGCAAGTGGCTTTCAACACACAACAGCAGATGGCACCAACGGGACCCCCTGGCCCTG | pathogenic | 298,811 |
Mutation found at chromosome 19 position 11129668, gene LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | TCTGCAGCCCTCCCCTAAAGACTCATCAATGTGAGGCTCAAGAACCTTCTTAGGCTGGGCTCGGTGGCTCATTTCTGTAATCCCTGCACTTTGGAAGGCTGAGGCAGGAGGATCTCTTGAGGCCAGGAGTTCAAGACAAGCCTGGGCAACATAGCCAGACCTCTGTTTCTATCCCCCACAAAAAGAACCTTCTTAAACCGGAATTGAGTCCTACAACCTCGATAACTCACAAATAAGCCCGTGTGGCCTCTCACAGACTTGGGAAGTTCTCCAAGTGTCCAGGGAGATGTGCCAGGCGCTTTCCTGCCGTGACCACCGTCCTCTGCCTGCTCCATTTCTTGGTGGCCTTCCTTTAGACCTGGGCCTCACTCTTGCTTCTCTCCTGCAGCTCTGGGCGACGTTGCTGGCAGAGGAAATGAGAAGAAGCCCAGTAGCGTGAGGGCTCTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCCCAGCGTCCCCCAGGTCACAGCCTCCCGCTATGTGACCTCGTGCCTGGCTGGTTGGGCCTGTTCACTTTTTCTCCTGGACAGGGAACAGCCCCACTGGTGTCCTTTATCACCCCCACGGCCTCTCCTGGCTTGGGGCTGACAGTGACAAGATCAGACAGCTAAGGGGTCAGATGGAGGATGTGGAGCTGGGTCCCGTGCTGTGGAATAGCCTCACCGAGATTTGAGTGCCTTCTGGGGAACTGGTTCCCTTGCAGGGGGCTGTGTGGAGAGGCGCGCTCTCCCTGCCTCACCCATGCTCATCCTAACTCGGTTACCATCACATCTCTTTTTTCTTTTTTTCTTAAATTTTAAGAAAAAAGAAATTTAATTTTTTTGAGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACCATCATGCCTCGCTGCAGCCTCAATGTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGTGCAAGCCACTATACCCCACTTCCTATTTCTTAAAAAGTCACAGCCCTGTGTGTGGCTAATCCTGGACAGAAATCTAGAAGAAGTCAGCTACTTCTGGGGCGTGGCTCACCCAGTGGGCTTCAGGTTAGATATTTCTTATACTTATGAGGCTGGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGTGGATTGCTTGGGCTCAGGAGTTCGAGACCAACCTGGGCAACATGGCGAAACCCTGTTTCTAGAAAAGGTACAAAAATTAGCTGGGCAGGTGGCACGTGCCTGTGGTACCAGCTACTTGAGGGCCTGAGGCAGGAGGATCGCTTGAACCTGGGAGGTCGAGGTTGCAGTGAACTGAGATCATGTCACTGCACTCCAGCCTGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAAAAAAGAAAGAAAAAAATTCTTATGCATAGATTTGCCTCTTTTCTGTTTGTTTGTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGCTCAACCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGACTGGGTTTCATCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCAGGCCCAGGCCGCAAGGCGATCTCTAAACAAACATAAAAGACCAGGAGTCAAGGTTATGGTACGATGCCCGTGTTTTCACTCCAGCCACGGAGCTGGGTCTCTGGTCTCGGGGGCAGCTGTGTGACAGAGCGTGCCTCTCCCTACAGTGCTCCTCGTCTTCCTTTGCCTGGGGGTCTTCCTTCTATGGAAGAACTGGCGGCTTAAGAACATCAACAGCATCAACTTTGACAACCCCGTCTATCAGAAGACCACAGAGGATGAGGTCCACATTTGCCACAACCAGGACGGCTACAGCTACCCCTCGGTGAGTGACCCTCTCTAGAAAGCCAGAGCCCATGGCGGCCCCCTCCCAGCTGGAGGCATATGATCCTCAAGGGACCAGGCCGAGGCTTCCCCAGCCCTCCAGATCGAGGACAGCATTAGGTGAATGCTTCTGTGCGCTCATTCAGAATGTCAGCGGACAATGGCCTTGGTGGTGTAGAGGAATGTTGGATAAGCAAATAGAGAGCTCCATCAGATGGTGACAGGGCAAAGAAAGTCAAAAGGAGTTCAGAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGGACTTTGGGAGGCCGAGGCTGGCGGATCACCTGAAGTCAGGAGTTTGAGACCAGCTTGGCCATCATGACAAAACCCCGTCTCTATTAAAAATACAAAAAATTAGCCAGGCGTGGGAGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCCGAGGTAGAAAAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCCGGGAGGCAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGGAGTTCAGAGGCCCGGCATGGTGGTTCACACATGTGATCCCAGAACTTGGGGAGGTTGAGGCAGGAGAATCACCTGAGCTCAGAGTTCAAGACCAGCCTGGGCAGCACAGCAAGACCCCATCTCTGCAAAAAATAAAAATTTAGCCCAGTGTGGTGATGAGCGCCTAGTTCCAGCTACTAGGGAGGCTAAGGCAGGAGGATTGCTTGAGGCTAAGGTAGGAGATTGAGACTGCAGTGACTTGTGATTGCGTCACTGCGCTCCAGCCTGGGTGACAGAGCAAGCCCTTGTCTCTTAAAAAAAAAAAAAAATTCAAAGAAGGGTTTCCAGAGGGCCAGGAGGGAGGAAGGGAGAGGAGGTGTTTTATTTTTTTGCTTTTATTTTTTATTTTGAGACAGAGTCTCTCTCTGTCACCCAGGTTGGAGTGCAGTGCTGTGATCTTGGCTCACTGCAACTTCTGCCTCCTGGGTTCAAGCAATTCTTATGCCTCAGCCTCAGCCTCCTGAGTAGCTGGGATTACAACACTATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCGCCATGTTGCCCAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCCACGTGCTGGGATTGCAGGCGTGAGCCACTGCGCCCGCCTTGATCTTTACACAAGGGGTTTAGGGTAGGTAGCCTTCTCTGAACCAGGAGAACAGCCTGTGCGAAGGCCCTGAGGCTGGACCGTGCCTGTTGGGTTTGAGGCCGTTGTAGCTGGAGCAAACAGAGAGAGGGGTAAAAAGGCAGGAGGCTACCAGGCAGGTTGTGCAGAGCCTTGTGGGCCACTGGGGAGGACTTTGGCTTTTGCCCTGAGAGCGGTGGGAAGTGACTGAATCCGGTACTCACCGTCTCCCTCTGGCGGCTCCTGGGGGAACATGCTTGGGGATCAGGCTGGGGGAGGCTGCCAGGCCCAGGAGGTGAGAAGTAGGTGGCCTCCAGCCGTGTTTCCTGAATGCTGGACTGATAGTTTCCGCTGTTTACCATTTGTTGGCAGAGACAGATGGTCAGTCTGGAGGATGACGTGGCGTGAACATCTGCCTGGAGTCCCGTCCCTGCCCAGAACCCTTCCTGAGACCTCGCCGGCCTTGTTTTATTCAAAGACAGAGAAGACCAAAGCATTGCCTGCCAGAGCTTTGTTTTATATATTTATTCATCTGGGAGGCAGAACAGGCTTCGGACAGTGCCCATGCAATGGCTTGGGTTGGGATTTTGGTTTCTTCCTTTCCTCGTGAAGGATAAGAGAAACAGGCCCGGGGGGACCAGGATGACACCTCCATTTCTCTCCAGGAAGTTTTGAGTTTCTCTCCACCGTGACACAATCCTCAAACATGGAAGATGAAAGGGGAGGGGATGTCAGGCCCAGAGAAGCAAGTGGCTTTCAACACACAACAGCAGATGGCACCAACGGGACCCCCTGGCCCTGCCTCAT | TCTGCAGCCCTCCCCTAAAGACTCATCAATGTGAGGCTCAAGAACCTTCTTAGGCTGGGCTCGGTGGCTCATTTCTGTAATCCCTGCACTTTGGAAGGCTGAGGCAGGAGGATCTCTTGAGGCCAGGAGTTCAAGACAAGCCTGGGCAACATAGCCAGACCTCTGTTTCTATCCCCCACAAAAAGAACCTTCTTAAACCGGAATTGAGTCCTACAACCTCGATAACTCACAAATAAGCCCGTGTGGCCTCTCACAGACTTGGGAAGTTCTCCAAGTGTCCAGGGAGATGTGCCAGGCGCTTTCCTGCCGTGACCACCGTCCTCTGCCTGCTCCATTTCTTGGTGGCCTTCCTTTAGACCTGGGCCTCACTCTTGCTTCTCTCCTGCAGCTCTGGGCGACGTTGCTGGCAGAGGAAATGAGAAGAAGCCCAGTAGCGTGAGGGCTCTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCCCAGCGTCCCCCAGGTCACAGCCTCCCGCTATGTGACCTCGTGCCTGGCTGGTTGGGCCTGTTCACTTTTTCTCCTGGACAGGGAACAGCCCCACTGGTGTCCTTTATCACCCCCACGGCCTCTCCTGGCTTGGGGCTGACAGTGACAAGATCAGACAGCTAAGGGGTCAGATGGAGGATGTGGAGCTGGGTCCCGTGCTGTGGAATAGCCTCACCGAGATTTGAGTGCCTTCTGGGGAACTGGTTCCCTTGCAGGGGGCTGTGTGGAGAGGCGCGCTCTCCCTGCCTCACCCATGCTCATCCTAACTCGGTTACCATCACATCTCTTTTTTCTTTTTTTCTTAAATTTTAAGAAAAAAGAAATTTAATTTTTTTGAGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACCATCATGCCTCGCTGCAGCCTCAATGTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGTGCAAGCCACTATACCCCACTTCCTATTTCTTAAAAAGTCACAGCCCTGTGTGTGGCTAATCCTGGACAGAAATCTAGAAGAAGTCAGCTACTTCTGGGGCGTGGCTCACCCAGTGGGCTTCAGGTTAGATATTTCTTATACTTATGAGGCTGGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGTGGATTGCTTGGGCTCAGGAGTTCGAGACCAACCTGGGCAACATGGCGAAACCCTGTTTCTAGAAAAGGTACAAAAATTAGCTGGGCAGGTGGCACGTGCCTGTGGTACCAGCTACTTGAGGGCCTGAGGCAGGAGGATCGCTTGAACCTGGGAGGTCGAGGTTGCAGTGAACTGAGATCATGTCACTGCACTCCAGCCTGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAAAAAAGAAAGAAAAAAATTCTTATGCATAGATTTGCCTCTTTTCTGTTTGTTTGTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGCTCAACCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGACTGGGTTTCATCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCAGGCCCAGGCCGCAAGGCGATCTCTAAACAAACATAAAAGACCAGGAGTCAAGGTTATGGTACGATGCCCGTGTTTTCACTCCAGCCACGGAGCTGGGTCTCTGGTCTCGGGGGCAGCTGTGTGACAGAGCGTGCCTCTCCCTACAGTGCTCCTCGTCTTCCTTTGCCTGGGGGTCTTCCTTCTATGGAAGAACTGGCGGCTTAAGAACATCAACAGCATCAACTTTGACAACCCCGTCTATCAGAAGACCACAGAGGATGAGGTCCACATTTGCCACAACCAGGACGGCTACAGCTACCCCTGGTGAGTGACCCTCTCTAGAAAGCCAGAGCCCATGGCGGCCCCCTCCCAGCTGGAGGCATATGATCCTCAAGGGACCAGGCCGAGGCTTCCCCAGCCCTCCAGATCGAGGACAGCATTAGGTGAATGCTTCTGTGCGCTCATTCAGAATGTCAGCGGACAATGGCCTTGGTGGTGTAGAGGAATGTTGGATAAGCAAATAGAGAGCTCCATCAGATGGTGACAGGGCAAAGAAAGTCAAAAGGAGTTCAGAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGGACTTTGGGAGGCCGAGGCTGGCGGATCACCTGAAGTCAGGAGTTTGAGACCAGCTTGGCCATCATGACAAAACCCCGTCTCTATTAAAAATACAAAAAATTAGCCAGGCGTGGGAGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCCGAGGTAGAAAAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCCGGGAGGCAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGGAGTTCAGAGGCCCGGCATGGTGGTTCACACATGTGATCCCAGAACTTGGGGAGGTTGAGGCAGGAGAATCACCTGAGCTCAGAGTTCAAGACCAGCCTGGGCAGCACAGCAAGACCCCATCTCTGCAAAAAATAAAAATTTAGCCCAGTGTGGTGATGAGCGCCTAGTTCCAGCTACTAGGGAGGCTAAGGCAGGAGGATTGCTTGAGGCTAAGGTAGGAGATTGAGACTGCAGTGACTTGTGATTGCGTCACTGCGCTCCAGCCTGGGTGACAGAGCAAGCCCTTGTCTCTTAAAAAAAAAAAAAAATTCAAAGAAGGGTTTCCAGAGGGCCAGGAGGGAGGAAGGGAGAGGAGGTGTTTTATTTTTTTGCTTTTATTTTTTATTTTGAGACAGAGTCTCTCTCTGTCACCCAGGTTGGAGTGCAGTGCTGTGATCTTGGCTCACTGCAACTTCTGCCTCCTGGGTTCAAGCAATTCTTATGCCTCAGCCTCAGCCTCCTGAGTAGCTGGGATTACAACACTATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCGCCATGTTGCCCAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCCACGTGCTGGGATTGCAGGCGTGAGCCACTGCGCCCGCCTTGATCTTTACACAAGGGGTTTAGGGTAGGTAGCCTTCTCTGAACCAGGAGAACAGCCTGTGCGAAGGCCCTGAGGCTGGACCGTGCCTGTTGGGTTTGAGGCCGTTGTAGCTGGAGCAAACAGAGAGAGGGGTAAAAAGGCAGGAGGCTACCAGGCAGGTTGTGCAGAGCCTTGTGGGCCACTGGGGAGGACTTTGGCTTTTGCCCTGAGAGCGGTGGGAAGTGACTGAATCCGGTACTCACCGTCTCCCTCTGGCGGCTCCTGGGGGAACATGCTTGGGGATCAGGCTGGGGGAGGCTGCCAGGCCCAGGAGGTGAGAAGTAGGTGGCCTCCAGCCGTGTTTCCTGAATGCTGGACTGATAGTTTCCGCTGTTTACCATTTGTTGGCAGAGACAGATGGTCAGTCTGGAGGATGACGTGGCGTGAACATCTGCCTGGAGTCCCGTCCCTGCCCAGAACCCTTCCTGAGACCTCGCCGGCCTTGTTTTATTCAAAGACAGAGAAGACCAAAGCATTGCCTGCCAGAGCTTTGTTTTATATATTTATTCATCTGGGAGGCAGAACAGGCTTCGGACAGTGCCCATGCAATGGCTTGGGTTGGGATTTTGGTTTCTTCCTTTCCTCGTGAAGGATAAGAGAAACAGGCCCGGGGGGACCAGGATGACACCTCCATTTCTCTCCAGGAAGTTTTGAGTTTCTCTCCACCGTGACACAATCCTCAAACATGGAAGATGAAAGGGGAGGGGATGTCAGGCCCAGAGAAGCAAGTGGCTTTCAACACACAACAGCAGATGGCACCAACGGGACCCCCTGGCCCTGCCTCATN | pathogenic | 298,812 |
Located at chromosome 19 position 11133511, the variant affecting gene LDLR (low density lipoprotein receptor)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | GACAGTGCCCATGCAATGGCTTGGGTTGGGATTTTGGTTTCTTCCTTTCCTCGTGAAGGATAAGAGAAACAGGCCCGGGGGGACCAGGATGACACCTCCATTTCTCTCCAGGAAGTTTTGAGTTTCTCTCCACCGTGACACAATCCTCAAACATGGAAGATGAAAGGGGAGGGGATGTCAGGCCCAGAGAAGCAAGTGGCTTTCAACACACAACAGCAGATGGCACCAACGGGACCCCCTGGCCCTGCCTCATCCACCAATCTCTAAGCCAAACCCCTAAACTCAGGAGTCAACGTGTTTACCTCTTCTATGCAAGCCTTGCTAGACAGCCAGGTTAGCCTTTGCCCTGTCACCCCCGAATCATGACCCACCCAGTGTCTTTCGAGGTGGGTTTGTACCTTCCTTAAGCCAGGAAAGGGATTCATGGCGTCGGAAATGATCTGGCTGAATCCGTGGTGGCACCGAGACCAAACTCATTCACCAAATGATGCCACTTCCCAGAGGCAGAGCCTGAGTCACTGGTCACCCTTAATATTTATTAAGTGCCTGAGACACCCGGTTACCTTGGCCGTGAGGACACGTGGCCTGCACCCAGGTGTGGCTGTCAGGACACCAGCCTGGTGCCCATCCTCCCGACCCCTACCCACTTCCATTCCCGTGGTCTCCTTGCACTTTCTCAGTTCAGAGTTGTACACTGTGTACATTTGGCATTTGTGTTATTATTTTGCACTGTTTTCTGTCGTGTGTGTTGGGATGGGATCCCAGGCCAGGGAAAGCCCGTGTCAATGAATGCCGGGGACAGAGAGGGGCAGGTTGACCGGGACTTCAAAGCCGTGATCGTGAATATCGAGAACTGCCATTGTCGTCTTTATGTCCGCCCACCTAGTGCTTCCACTTCTATGCAAATGCCTCCAAGCCATTCACTTCCCCAATCTTGTCGTTGATGGGTATGTGTTTAAAACATGCACGGTGAGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCTGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAACAAAAAAAAACCATGCATGGTGCATCAGCAGCCCATGGCCTCTGGCCAGGCATGGCGAGGCTGAGGTGGGAGGATGGTTTGAGCTCAGGCATTTGAGGCTGTCGTGAGCTATGATTATGCCACTGCTTTCCAGCCTGGGCAACATAGTAAGACCCCATCTCTTAAAAAATGAATTTGGCCAGACACAGGTGCCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGCTGGATCACTTGAGTTCAGGAGTTGGAGACCAGGCCTGAGCAACAAAGCGAGATCCCATCTCTACAAAAACCAAAAAGTTAAAAATCAGCTGGGTACGGTGGCACGTGCCTGTGATCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCGCCTGAGCCCAGGAGGTGGAGGTTGCAGTGAGCCATGATCGAGCCACTGCACTCCAGCCTGGGCAACAGATGAAGACCCTATTTCAGAAATACAACTATAAAAAAATAAATAAATCCTCCAGTCTGGATCGTTTGACGGGACTTCAGGTTCTTTCTGAAATCGCCGTGTTACTGTTGCACTGATGTCCGGAGAGACAGTGACAGCCTCCGTCAGACTCCCGCGTGAAGATGTCACAAGGGATTGGCAATTGTCCCCAGGGACAAAACACTGTGTCCCCCCCAGTGCAGGGAACCGTGATAAGCCTTTCTGGTTTCGGAGCACGTAAATGCGTCCCTGTACAGATAGTGGGGATTTTTTGTTATGTTTGCACTTTGTATATTGGTTGAAACTGTTATCACTTATATATATATATATACACACATATATATAAAATCTATTTATTTTTGCAAACCCTGGTTGCTGTATTTGTTCAGTGACTATTCTCGGGGCCCTGTGTAGGGGGTTATTGCCTCTGAAATGCCTCTTCTTTATGTACAAAGATTATTTGCACGAACTGGACTGTGTGCAACGCTTTTTGGGAGAATGATGTCCCCGTTGTATGTATGAGTGGCTTCTGGGAGATGGGTGTCACTTTTTAAACCACTGTATAGAAGGTTTTTGTAGCCTGAATGTCTTACTGTGATCAATTAAATTTCTTAAATGAACCAATTTGTCTAAACTCGATGCACGTTCTTCTGTTCGCGCGCTTCTTTTTGTTTTTTTTTTTTTCCTGAGATGGAGCCTGGCTCTGTCACCCCTGGCTGGAGTGCAGTGGCATGATCTCGGCTTACTGCAAGCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCTAGTAGCTAGGATTACAGGTGAGTGCCACCACGCCTGGCCAATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCCCAGGTTAATGCCATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGGCCACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTTTTGTACTTCTTTTAGTACAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCTGCTTCGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGGGTGGCCAACGCTAATTTTTTTGTTTTTTTAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCTGCCTACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAACTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTTGTGATCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTAGAGGTGTGAGCCACCACACCTGGCCTAGCCTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTTCTGACCTCAGGTAATCTGCCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTCACTTCCTTCTGTCATCTGTTTGTGGATTGGACTCCCCAGGAGAAGGACCCAGAAGGGGAAGACTCCCAGAACTCCGGGCAAGATGCAATCTCCGTGGGCTGCCACAGTGCCTGGCAGGTGCTGTGATGGCTGAGCTGGTGATTGTGTTCTCTGCTGTCGCTTCTCTGAGTTGGAGATTTTGTCAAGTCCCCTGCTCATCCATTCATACACTCGACAAATATCTGTTGAGTGCTAAGTGCGAACCATGCTCTGCCGTAGGCTTGTGGGACACTACAGGGGATATAAGAAATGAAAGCCGGGTGTGGTGGCTCACACCTGTAATCCTAGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTAGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATAGCGTGAACCTGGGAGTTGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCTAGCCTGGGCAACAGAGCAAGACTCCATCTACAAAAAAAAAAAAAAGAAATGAAGTCTTGATACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACGAGCTCAGGAGATCGAGACCATCCTGGCCAACGTGGCGAAACCCAGTCTCTACTAAAGATACAAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAGTCCCAGC | GACAGTGCCCATGCAATGGCTTGGGTTGGGATTTTGGTTTCTTCCTTTCCTCGTGAAGGATAAGAGAAACAGGCCCGGGGGGACCAGGATGACACCTCCATTTCTCTCCAGGAAGTTTTGAGTTTCTCTCCACCGTGACACAATCCTCAAACATGGAAGATGAAAGGGGAGGGGATGTCAGGCCCAGAGAAGCAAGTGGCTTTCAACACACAACAGCAGATGGCACCAACGGGACCCCCTGGCCCTGCCTCATCCACCAATCTCTAAGCCAAACCCCTAAACTCAGGAGTCAACGTGTTTACCTCTTCTATGCAAGCCTTGCTAGACAGCCAGGTTAGCCTTTGCCCTGTCACCCCCGAATCATGACCCACCCAGTGTCTTTCGAGGTGGGTTTGTACCTTCCTTAAGCCAGGAAAGGGATTCATGGCGTCGGAAATGATCTGGCTGAATCCGTGGTGGCACCGAGACCAAACTCATTCACCAAATGATGCCACTTCCCAGAGGCAGAGCCTGAGTCACTGGTCACCCTTAATATTTATTAAGTGCCTGAGACACCCGGTTACCTTGGCCGTGAGGACACGTGGCCTGCACCCAGGTGTGGCTGTCAGGACACCAGCCTGGTGCCCATCCTCCCGACCCCTACCCACTTCCATTCCCGTGGTCTCCTTGCACTTTCTCAGTTCAGAGTTGTACACTGTGTACATTTGGCATTTGTGTTATTATTTTGCACTGTTTTCTGTCGTGTGTGTTGGGATGGGATCCCAGGCCAGGGAAAGCCCGTGTCAATGAATGCCGGGGACAGAGAGGGGCAGGTTGACCGGGACTTCAAAGCCGTGATCGTGAATATCGAGAACTGCCATTGTCGTCTTTATGTCCGCCCACCTAGTGCTTCCACTTCTATGCAAATGCCTCCAAGCCATTCACTTCCCCAATCTTGTCGTTGATGGGTATGTGTTTAAAACATGCACGGTGAGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCTGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAACAAAAAAAAACCATGCATGGTGCATCAGCAGCCCATGGCCTCTGGCCAGGCATGGCGAGGCTGAGGTGGGAGGATGGTTTGAGCTCAGGCATTTGAGGCTGTCGTGAGCTATGATTATGCCACTGCTTTCCAGCCTGGGCAACATAGTAAGACCCCATCTCTTAAAAAATGAATTTGGCCAGACACAGGTGCCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGCTGGATCACTTGAGTTCAGGAGTTGGAGACCAGGCCTGAGCAACAAAGCGAGATCCCATCTCTACAAAAACCAAAAAGTTAAAAATCAGCTGGGTACGGTGGCACGTGCCTGTGATCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCGCCTGAGCCCAGGAGGTGGAGGTTGCAGTGAGCCATGATCGAGCCACTGCACTCCAGCCTGGGCAACAGATGAAGACCCTATTTCAGAAATACAACTATAAAAAAATAAATAAATCCTCCAGTCTGGATCGTTTGACGGGACTTCAGGTTCTTTCTGAAATCGCCGTGTTACTGTTGCACTGATGTCCGGAGAGACAGTGACAGCCTCCGTCAGACTCCCGCGTGAAGATGTCACAAGGGATTGGCAATTGTCCCCAGGGACAAAACACTGTGTCCCCCCCAGTGCAGGGAACCGTGATAAGCCTTTCTGGTTTCGGAGCACGTAAATGCGTCCCTGTACAGATAGTGGGGATTTTTTGTTATGTTTGCACTTTGTATATTGGTTGAAACTGTTATCACTTATATATATATATACACACATATATATAAAATCTATTTATTTTTGCAAACCCTGGTTGCTGTATTTGTTCAGTGACTATTCTCGGGGCCCTGTGTAGGGGGTTATTGCCTCTGAAATGCCTCTTCTTTATGTACAAAGATTATTTGCACGAACTGGACTGTGTGCAACGCTTTTTGGGAGAATGATGTCCCCGTTGTATGTATGAGTGGCTTCTGGGAGATGGGTGTCACTTTTTAAACCACTGTATAGAAGGTTTTTGTAGCCTGAATGTCTTACTGTGATCAATTAAATTTCTTAAATGAACCAATTTGTCTAAACTCGATGCACGTTCTTCTGTTCGCGCGCTTCTTTTTGTTTTTTTTTTTTTCCTGAGATGGAGCCTGGCTCTGTCACCCCTGGCTGGAGTGCAGTGGCATGATCTCGGCTTACTGCAAGCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCTAGTAGCTAGGATTACAGGTGAGTGCCACCACGCCTGGCCAATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCCCAGGTTAATGCCATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGGCCACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTTTTGTACTTCTTTTAGTACAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCTGCTTCGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGGGTGGCCAACGCTAATTTTTTTGTTTTTTTAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCTGCCTACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAACTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTTGTGATCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTAGAGGTGTGAGCCACCACACCTGGCCTAGCCTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTTCTGACCTCAGGTAATCTGCCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTCACTTCCTTCTGTCATCTGTTTGTGGATTGGACTCCCCAGGAGAAGGACCCAGAAGGGGAAGACTCCCAGAACTCCGGGCAAGATGCAATCTCCGTGGGCTGCCACAGTGCCTGGCAGGTGCTGTGATGGCTGAGCTGGTGATTGTGTTCTCTGCTGTCGCTTCTCTGAGTTGGAGATTTTGTCAAGTCCCCTGCTCATCCATTCATACACTCGACAAATATCTGTTGAGTGCTAAGTGCGAACCATGCTCTGCCGTAGGCTTGTGGGACACTACAGGGGATATAAGAAATGAAAGCCGGGTGTGGTGGCTCACACCTGTAATCCTAGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTAGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATAGCGTGAACCTGGGAGTTGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCTAGCCTGGGCAACAGAGCAAGACTCCATCTACAAAAAAAAAAAAAAGAAATGAAGTCTTGATACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACGAGCTCAGGAGATCGAGACCATCCTGGCCAACGTGGCGAAACCCAGTCTCTACTAAAGATACAAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAGTCCCAGCNN | benign | 298,853 |
Classify the chromosome 19 variant at position 11200950 affecting gene DOCK6 (dedicator of cytokinesis 6) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Adams-Oliver_syndrome_2'] | AAAAAAAGCCAGGCACAGTGGCATGTGCCTATAATCTCTGCTACTCAGGAGGCTTGAGCCCCGGAGTTTGAGGCTGCAGTGAGCTATGACTGTGACACTGCATTCCAGCCTGGGGGACTGAGTGAGAGCGTCTGTTAAAAACAAACAAACAAAAACCAGGTATTGTTATTGCAGGTAAGCATGTGACATTATTTGTGTGTTGCCTTCCCTACTAGAACATCAGCTCCACAAGGGCAGGAATTTTTGCCTGTTGTCACCACGATGTCCCTGGCACCCAGTATGTTCTTGGTGTCCCCATTGATGATGCAGGGATGTGTGGATATGGGGCAGTGGACTGTGAGCATGTGATGAGCATGTGACCCAGCCCCTAGTGACCGCACCACATGGCACAGGTTGCTTATAAAAACCATTTTAAATTAAAAAAGGGAGGAAGCATCAGTGCACACAGATGGGGACACAGGGGCAGAGGGCCCAGCCCCAAGTACAGTGTGGTCACCCCACAGCCCAGTGGGCACCAGGGCAGACTCCCCTCGCAGCACAGACAGCTGAGGCCCGGGTGCTGGTTCCTCTAGGTACAGCTTTGGTCCTTGTGGGCTCAGAGGTCTGCCTTTCGGAAACTTGCTCTGTTCAAGGAGTTCCTGGAAAAAGAATGAGGGTGGGTCAGCATGGCCATGGGGCCCCCAACTCCATAGACCTCCCAGCCCACATCCTCTTCCTCCTCCTCCTCGTCTTCCTCCAAGGATCCTTCTGGGATCTCTCCTGTCCCTGATCTGGCTGTGGGATTCTCCGATTCTCTCTTGCAGTCCACCACGGAAGGTATGAATCATCCCCATTTTACAGATGTAGAAACTGAGGCTCAGAAAGATGAATTCATGTATCTGGGAAATGACTGCTCAGAGCCTGCCCTGCCTTTGTACATCTGGATGACATATTCAGATGCTTATGCAAAATTGAAGCCACCGCAGCCAGGCGTGGTGGTGGCTCATGCTGTAATTCCAGCACTTTAGGAGGGCAAAGCGGATGGATCACCTGAGATCAGGAGTTCGAGACCAGTCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAACATTAGCCAGGCGTGGTGGCAGATGCCTGTAATCCCAGTTACTCAGGAGGCTGAGGCAGGAGACTCGCTTGAATCTGGGAGGCGGAGGTTGCAGTGAGCCAAGACTGTGCCAACTGCACTCCAGCCTGGGCAACAGAGGGAGAGTCTCTCAAAAAAAAAAACAAAAAAAAAACCGGAAACAAAACAAAGTCCAAGCTACCAGCAAACATGTTGCTGTGTATGTGTACAACAGCCCCCATCCTGTACCTGTCCTGGTCTGCCTCTGCATCCCCTCTCTAGTCTCTAGGATGGGGGCACTAGGTCAGGCACCTGAGGCCGGGTGGGGTGGGTGCCATCAGCTGGGGCAGGCGCTGGGTAAGCAGGGGCTGCAGAGCCTCCCGCAGGCGGCAGTAGTTGCGCTCCAGCTCACGGTGGTACTCCTTCTGGTCCGGCCCAATCAGGGCCTTATTTTTCCGCAGCGCATCCTCACATCTGAGGGCCAGAGGGTGGGAGATGCTCAGAGACTCGCACACGGGACTGAAAGCAAGACTAGGGGTGGGGGCACCCATAAGGCGGGACCAGGCCTGCAGAAAGACCCGCAATAGGAGGTCAGGTTGGGAGAGTGGACTTAATGGGAATCGGGCAGATGGGGGAGCCATGCAGAGATCAGATGGGCAGAGAGCAGGCCTATGCAGGTTAGGCAGACACGAGACCCCTCCTGGGGGGTTTTGCGCCTACTTCTTGCAGAAGTCCTTGAAGCAGAGCCGCAATTTGTTGTGATGCCGGAAGAGCTTGGGGTCTTCCGGGATCTCTGCTAAAAACACCTGGGCCACCTCCAGGGGACCCTGTGGGGTGAGAGGGACTGGTGAGCCAGCCTGCATGGCACCTGGAGTCCCCCGTGCGGCTTGCATCCCCCTTCCACCAGCCGTGCCTGGTTCACGGTGGGCCCTACAGAGCCCTGAAGCACCATCTGTAGCATCTTAGCATCTGGTGGGTCCTGCTCGGTGGCAAAGGCCAGCTCCCGTGTCTTCTTCTGCATGTCCTCGATGGCCACCTCCACTGGCGTCAGCACCGTCTGTGGGGTAAGGGGAGGGGTGTGTACTCGCTGGGGCCTGAGGAGGTCCTGATCGAAGCCAGTCGGGGGCAGCTCAGACCCCGCTGGGAGTGAGAGGGGTCCAAGAACCCAGGCAATGAACAGAATCTGGGGGCCTTCCTGGGTCTGACTCTGGGGGGGTCCAGCCTTGGGTCTGCTGGGTCTGGTGCCCTGGGGTCCAGGGGCTTTACCTCTGGGGTCTCCAGACTTCCTTGGGTCTGGAGGTAGAGATTTGGACTGGAAGTTGGAGTTTGGGGTCCCCAACCTGGTTCTGGGGTACATGAGCCAATTTCTGGGTCTAGCGTGTCCACGCCTCTCCTCTCTGGGTCTGGAATCCCTGGGCTTCTCCTCCCTGGGCCTTCTTAGATTTGGAGTCCCTGTGCCTCCCCTTTGTGAGTCTAGAATCCCTGGGTCCTCCTGGGTCTGGAGGTAGAGGTTTCAGTTTAGAGATTGGAATGCAGGGTCTCCATATCTTCTCAGCCCAGTTCTGGGGTACCTGGGCCTCTTCCTGGGCCACACCTCTCCTCCCTGGGCCTTCCTAGATCTGGGCTCCCTCTGCCTCCTCTTTCTGGGTCTGGAATCCCTGGGCCACCCTGGGTCTGGGGTCCCTGCATCTTGCCTCCCAGGTCTCCCTGGGTCTGGTCTCCTCCCCTCCCCTCCCTGGGGATCTGGTCTAGGGTCCCTGTGCCACCCCTCTCTGGGTCTGAGGTCCGTGAACCACCTTGGGTCTGGGTCCCTGTGTCTACCCTCCCCTCCCCTCCCAGGGTCTGATGTCCCCTCACCTCCCCACCCCCGCCAGGCCCAGGATCCCCACCCACCTCCTCCCGGTGGCACACACGGATGCGAGTCTTGATGTAGGGGAAGGCGTGGTCGGTGCTGAGCAGCGTCTTACGCTTGTGTTGCTCGGGCAGCTCCCCGTGTGCGCGCCCATCCGGCGTGAACGGCGTGCAGAACAGGAATGTGCGAAGCCCATAGTTGCGGTCAAAGTAGGTCACCCGGTCCTTGAGCTCGTAGGTATCAAAGTACGGTTCCACATACGTGATCTGGATGTAGGCCTGGGCGCAGGGTCAGGTGTGAGGATCCCACAGCCCCAGCACGCACAGCCCAAGCCCTGTTCCTGGAGAGAGGGGATCTGGGGACTTTGTCATTTCCAAGTCTTCCTATGTCTGGATGTTTGGGAATCCCCTGAGGAATAGGTTTTGGGGTCCCTCAGTGAAATATGATTTGGGGTTTCCCAGAGAAAGAGGATTTGAGGGTCCCCAGGAAACAGCACTTGGAGTCTCTGTGAATCTAAGATTTTGGGGAAATGGTTGGGGGACCCACCTTTTGTGAGTCAAGCTTGGACTTGTCCACAGGGTTAGAGTCTTTGATAATCTCAACGACGTCGTCGCCAAATCTCTCCGTGTAGAACTCCTGGAGACACAGGGCTGACTCGGGGCCACCCAGGGACAGCCCCTACTCCAGCCCCAAGGCAGCCCCATGCCCCGTTCCACCCCCAACCACAAGGACGTGCCTCCAGCCGGTGTGAGATCTCTGCCAGCTTCGTGATCGATGGCTCCTTGTACACAAACTCCTGCTCATCCAGGTCACCGAAGTGGGCGCCGTAGAAGCCCACGCGGAAATACGTCCCGAACACGCGCTGGGGCTGTGAGAAAGGGTGTGGTTGTCCGGGAGGCCCCTGCTGGAGGTCTCCCTGCCCCAGAGATAGGTGTCTCGAATATCAGGATGGGAGTGTGAGGACCCCGAGAACATCAGGGCATGGGCACAGGCAGGGGGCCCTGAGAACATTGGGGCATGGATTGCAATAGGAAGTTAGGACTGGGGCTGTATTGTTTACGGGTGTGTCCCTAATGCCCGTGGGACAGGGTATACAGCAGGTACCCAATACATGCATAGATGGCTGAGGAGAGGGATGGCTGTCTCTCAC | AAAAAAAGCCAGGCACAGTGGCATGTGCCTATAATCTCTGCTACTCAGGAGGCTTGAGCCCCGGAGTTTGAGGCTGCAGTGAGCTATGACTGTGACACTGCATTCCAGCCTGGGGGACTGAGTGAGAGCGTCTGTTAAAAACAAACAAACAAAAACCAGGTATTGTTATTGCAGGTAAGCATGTGACATTATTTGTGTGTTGCCTTCCCTACTAGAACATCAGCTCCACAAGGGCAGGAATTTTTGCCTGTTGTCACCACGATGTCCCTGGCACCCAGTATGTTCTTGGTGTCCCCATTGATGATGCAGGGATGTGTGGATATGGGGCAGTGGACTGTGAGCATGTGATGAGCATGTGACCCAGCCCCTAGTGACCGCACCACATGGCACAGGTTGCTTATAAAAACCATTTTAAATTAAAAAAGGGAGGAAGCATCAGTGCACACAGATGGGGACACAGGGGCAGAGGGCCCAGCCCCAAGTACAGTGTGGTCACCCCACAGCCCAGTGGGCACCAGGGCAGACTCCCCTCGCAGCACAGACAGCTGAGGCCCGGGTGCTGGTTCCTCTAGGTACAGCTTTGGTCCTTGTGGGCTCAGAGGTCTGCCTTTCGGAAACTTGCTCTGTTCAAGGAGTTCCTGGAAAAAGAATGAGGGTGGGTCAGCATGGCCATGGGGCCCCCAACTCCATAGACCTCCCAGCCCACATCCTCTTCCTCCTCCTCCTCGTCTTCCTCCAAGGATCCTTCTGGGATCTCTCCTGTCCCTGATCTGGCTGTGGGATTCTCCGATTCTCTCTTGCAGTCCACCACGGAAGGTATGAATCATCCCCATTTTACAGATGTAGAAACTGAGGCTCAGAAAGATGAATTCATGTATCTGGGAAATGACTGCTCAGAGCCTGCCCTGCCTTTGTACATCTGGATGACATATTCAGATGCTTATGCAAAATTGAAGCCACCGCAGCCAGGCGTGGTGGTGGCTCATGCTGTAATTCCAGCACTTTAGGAGGGCAAAGCGGATGGATCACCTGAGATCAGGAGTTCGAGACCAGTCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAACATTAGCCAGGCGTGGTGGCAGATGCCTGTAATCCCAGTTACTCAGGAGGCTGAGGCAGGAGACTCGCTTGAATCTGGGAGGCGGAGGTTGCAGTGAGCCAAGACTGTGCCAACTGCACTCCAGCCTGGGCAACAGAGGGAGAGTCTCTCAAAAAAAAAAACAAAAAAAAAACCGGAAACAAAACAAAGTCCAAGCTACCAGCAAACATGTTGCTGTGTATGTGTACAACAGCCCCCATCCTGTACCTGTCCTGGTCTGCCTCTGCATCCCCTCTCTAGTCTCTAGGATGGGGGCACTAGGTCAGGCACCTGAGGCCGGGTGGGGTGGGTGCCATCAGCTGGGGCAGGCGCTGGGTAAGCAGGGGCTGCAGAGCCTCCCGCAGGCGGCAGTAGTTGCGCTCCAGCTCACGGTGGTACTCCTTCTGGTCCGGCCCAATCAGGGCCTTATTTTTCCGCAGCGCATCCTCACATCTGAGGGCCAGAGGGTGGGAGATGCTCAGAGACTCGCACACGGGACTGAAAGCAAGACTAGGGGTGGGGGCACCCATAAGGCGGGACCAGGCCTGCAGAAAGACCCGCAATAGGAGGTCAGGTTGGGAGAGTGGACTTAATGGGAATCGGGCAGATGGGGGAGCCATGCAGAGATCAGATGGGCAGAGAGCAGGCCTATGCAGGTTAGGCAGACACGAGACCCCTCCTGGGGGGTTTTGCGCCTACTTCTTGCAGAAGTCCTTGAAGCAGAGCCGCAATTTGTTGTGATGCCGGAAGAGCTTGGGGTCTTCCGGGATCTCTGCTAAAAACACCTGGGCCACCTCCAGGGGACCCTGTGGGGTGAGAGGGACTGGTGAGCCAGCCTGCATGGCACCTGGAGTCCCCCGTGCGGCTTGCATCCCCCTTCCACCAGCCGTGCCTGGTTCACGGTGGGCCCTACAGAGCCCTGAAGCACCATCTGTAGCATCTGGTGGGTCCTGCTCGGTGGCAAAGGCCAGCTCCCGTGTCTTCTTCTGCATGTCCTCGATGGCCACCTCCACTGGCGTCAGCACCGTCTGTGGGGTAAGGGGAGGGGTGTGTACTCGCTGGGGCCTGAGGAGGTCCTGATCGAAGCCAGTCGGGGGCAGCTCAGACCCCGCTGGGAGTGAGAGGGGTCCAAGAACCCAGGCAATGAACAGAATCTGGGGGCCTTCCTGGGTCTGACTCTGGGGGGGTCCAGCCTTGGGTCTGCTGGGTCTGGTGCCCTGGGGTCCAGGGGCTTTACCTCTGGGGTCTCCAGACTTCCTTGGGTCTGGAGGTAGAGATTTGGACTGGAAGTTGGAGTTTGGGGTCCCCAACCTGGTTCTGGGGTACATGAGCCAATTTCTGGGTCTAGCGTGTCCACGCCTCTCCTCTCTGGGTCTGGAATCCCTGGGCTTCTCCTCCCTGGGCCTTCTTAGATTTGGAGTCCCTGTGCCTCCCCTTTGTGAGTCTAGAATCCCTGGGTCCTCCTGGGTCTGGAGGTAGAGGTTTCAGTTTAGAGATTGGAATGCAGGGTCTCCATATCTTCTCAGCCCAGTTCTGGGGTACCTGGGCCTCTTCCTGGGCCACACCTCTCCTCCCTGGGCCTTCCTAGATCTGGGCTCCCTCTGCCTCCTCTTTCTGGGTCTGGAATCCCTGGGCCACCCTGGGTCTGGGGTCCCTGCATCTTGCCTCCCAGGTCTCCCTGGGTCTGGTCTCCTCCCCTCCCCTCCCTGGGGATCTGGTCTAGGGTCCCTGTGCCACCCCTCTCTGGGTCTGAGGTCCGTGAACCACCTTGGGTCTGGGTCCCTGTGTCTACCCTCCCCTCCCCTCCCAGGGTCTGATGTCCCCTCACCTCCCCACCCCCGCCAGGCCCAGGATCCCCACCCACCTCCTCCCGGTGGCACACACGGATGCGAGTCTTGATGTAGGGGAAGGCGTGGTCGGTGCTGAGCAGCGTCTTACGCTTGTGTTGCTCGGGCAGCTCCCCGTGTGCGCGCCCATCCGGCGTGAACGGCGTGCAGAACAGGAATGTGCGAAGCCCATAGTTGCGGTCAAAGTAGGTCACCCGGTCCTTGAGCTCGTAGGTATCAAAGTACGGTTCCACATACGTGATCTGGATGTAGGCCTGGGCGCAGGGTCAGGTGTGAGGATCCCACAGCCCCAGCACGCACAGCCCAAGCCCTGTTCCTGGAGAGAGGGGATCTGGGGACTTTGTCATTTCCAAGTCTTCCTATGTCTGGATGTTTGGGAATCCCCTGAGGAATAGGTTTTGGGGTCCCTCAGTGAAATATGATTTGGGGTTTCCCAGAGAAAGAGGATTTGAGGGTCCCCAGGAAACAGCACTTGGAGTCTCTGTGAATCTAAGATTTTGGGGAAATGGTTGGGGGACCCACCTTTTGTGAGTCAAGCTTGGACTTGTCCACAGGGTTAGAGTCTTTGATAATCTCAACGACGTCGTCGCCAAATCTCTCCGTGTAGAACTCCTGGAGACACAGGGCTGACTCGGGGCCACCCAGGGACAGCCCCTACTCCAGCCCCAAGGCAGCCCCATGCCCCGTTCCACCCCCAACCACAAGGACGTGCCTCCAGCCGGTGTGAGATCTCTGCCAGCTTCGTGATCGATGGCTCCTTGTACACAAACTCCTGCTCATCCAGGTCACCGAAGTGGGCGCCGTAGAAGCCCACGCGGAAATACGTCCCGAACACGCGCTGGGGCTGTGAGAAAGGGTGTGGTTGTCCGGGAGGCCCCTGCTGGAGGTCTCCCTGCCCCAGAGATAGGTGTCTCGAATATCAGGATGGGAGTGTGAGGACCCCGAGAACATCAGGGCATGGGCACAGGCAGGGGGCCCTGAGAACATTGGGGCATGGATTGCAATAGGAAGTTAGGACTGGGGCTGTATTGTTTACGGGTGTGTCCCTAATGCCCGTGGGACAGGGTATACAGCAGGTACCCAATACATGCATAGATGGCTGAGGAGAGGGATGGCTGTCTCTCACNNNNNNNN | pathogenic | 298,914 |
The mutation impacting DOCK6 on chromosome 19 at position 11211989: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Adams-Oliver_syndrome_2', 'Inborn_genetic_diseases'] | ACCTGTCCACCCTCTCACCTGCCCGCCCTCACCTGTCCACCCTCTCACCTGCCCATCCCTCACCTGCCCACCTTCTCACCTGTCCACCGTCTCACCTGTCCACCCTCTCACCTGTCCATCCCTTCACTTGTCTATCCCCTCACCTGCCCACCTTCTCACCTGTCCACCTCTCACCTGTCTATCCCCTTACCTGTCCACTCTCTCACCTGTCCACCCCTCACCTGCCCACCCTCTCACCTGTCCATCCCTTCAGCTGTTTGTCCCCTCATCTGTCCACCCCTCACCTGTCCATCCCCTCACTGTCTCTTCACCTGTCCACCCCTCACCTGTTCATCCCCTCACTGTCTCTTCACCTGTCCACCCCTCACCTGTTCATCTCACTTGGCCATCCCTTCACCTGTCTCCTTATCTGTCCACCTCCTCACTTGTTCATCTTCTCATCTGGCCATCTCTTCACCAGTCCATCCCTTCACCTGTCTCCTTGCCTGTTCACCCCTTCACCTGTCTCCTTGCCTGTTCACCCCTTCACCTGTCCACCCCCTCACCTGTCTATCCCCTCACCTGTCCACCCCCTCACCTGTCCATCCCTTCACCTGCCCATCCCCTTACCTGTCCACCCCCTCACCTGTGCATCCCCTCACCTGTCCATCCCTTCACCTGTCCATCCCTTCACCTGTCTGTCCCCTCACCTGTTCACCCTCTCACCTGTCCATTCCTTCGCCTGTCTATCCCCTCATCTGTCCACCCCTTTACCTATCTACCCCTCACCTGTCCATCCTTTCACTGTCTCTTCACCTGTCCACCCCCTCACCTGTTCACCTCACCTGGCCATCCCTTCAGCTGTCTCCTTATCTGTCCACCTCCTCACCTGTTCATCTTCTCATCTGGCCATCTCTTCACCAGTCCATCCCTTCACCTGTCTCCTCACCTGTTCACCTCCTGACTTCTTTACCTCCTGACCTGTCCATCCCCTCACCTGTCTATCCTGTCACCTGTGTCCTCACATGTCCACCCCCTCACTTGTGTCCTCACCTGTCCATTTCTTCACCCACTCACCTGCCTGTCCAACCCTTTTCCTGTCTTCCCACTTACCTGTCTCCTCACCCATCCATCCTACTCACCTGTCTCCTCACCTATGCAGCATCTCCCCGCTTCCTCTATTCACCTGTCTCCTCGCTTATCCAACCCCTCACCTGTCTATCCCTTCACCCCCCTGCCCCACCTTTTCATTTCTCACTTGACCCTCCGCTCTTGAGTTGACTCTACCTGTGGAAACTTGAGTCACCTGAACTCACTATTTCCCCTTCCTTGTGCACCATCTCACTTGTCTATCCACCTATCCCTCCCATATGCCCCACCTCCCCCATCTCCATCACCCGTCCGCCTCTCCTACACTCCTCAATGGGTCTACTCTCTGGATCTCATTTCCCTTCACCTGTAAGCACCTCACCTGTCCCCCTCACCTGTCCTGGCTCTCATCTGTCATCCTCATCAGTACATTCTCCTGGCATCCTCTTTACCTGTTTGCTCATCTGTTCTCTCCTTACTTGTGCCCTCATGTCTGCTCACCTGTCCCCCTCACCTGTCTGCTCCCCTATCCCCCTTACCTGTCTGCTCCCCTGTCCCCCTCACCTGTCTGCTCAGCTGTCTGCTCACCTGTCCCCCTCACCTGTCTGCTCAGCTGTCTGCTCACCTGTCCCCCTCACTTGCCTCTGTTAGGGACTGTATGCTCCCCTGCTCCCTCCTCACCTCCTTAGACATCTACTCTCATCCCTGTTCTCCCTGCACCTGTTGGGGCGTGGGCGTGGCTGAAGGTGCCAGCTGGCCCACCTCACCTGTACATGAGGTCGATGAGCATCTCAGGGTCCTCCTGGTGTTCCTTCATCTTCACCGTGTCCGTCAGGATCATGTGCAGGTTGAACATCAGGTCCTGGACCTGGAGCCGGGGAACGTCCAGGGGCCAATGAGAGCATTAGGAAGTGAAGGGAGCCAAGGTGGTGGGGTTGGGAGTTATATGAAGGGGAGGCGGGGCGGGGACCCAGCAGGTGTCACCTGCTCTGCGAAGGTGCTGTCCCGCAGCCCCATGTCCTCCTCAGCATAGGTGAGGATGGTTTTGAGTGAACGTCGCAGGTGCTCTTCACTGAAGTTCTGCGTCGTCCCCACCAGGGACGAGAGAGACATGGTGACCTGCATCTTCACACGGGCAAAGTTCTGCAGGGACAGGGGCGGGAGGGTGGAGCCGGGAGTCTCAGACCCCAGACCCCACATCAGAGTCTGCTCAACCTGCCGACATGGCCCTTGCGTTCTTTATTTTTTTTGAGATGGGGGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCATCTCCCGAGTTCAGGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTGCAGGCATATGCCACCACGCCCTACTAATTTTTGTATTTTTGGTAGAGACAGGGTTTCACTGTGTTGGCTATGCTGGTCTCGAACTCCTGAACTCAAGTGATTCACCTGCCTAGGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACTGCGCCCAGCATTTTTTCTTTTCTTTCTTTCTTTCTTTTTTTTTTTTTTTGAGACTGAGTGTCACTTTATCACTTAGGCTAGAATGCAGTGGTGCAATCTTGGCTCACTGCAACCTCCGCCTCTCAGGTTCAAGCGATTCTCGTGTCTCAGCCTTCCAAGTAGCTGGGATTACAGGCACCCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGCGGGGTTCCATCATGTTGGCTGGGCTGGTCTCGAACTCCTGACTTCAAGTGATCCACCTGCCTCAGCTTCCCAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCTGGCCCTTTTTTTTTTTTTTTTTTTTTTATTGAGACAAGGTCTCACTCTTGCTCAGGCTGGAGTGCAGTGGCACAGTCGTGGCCCACTGCAGCCTCAAACTCCTGGCCTCAAGTGATCCTCTCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGAATGAGCCACGGCACCTGACCCCCAATTGCATTCTGAGCCCTCCTCCTGCTCATTATGCTCAATGACTGTCTCCCCCTCCCTCACTCCCTGTATGGTTGAGACCCCACTGGCCACCCTGACCAGAGCCATGTGTGGACCATGCCTCCTAGCCCCCACTCACGTGGCCGATCTCGAAGTTCTGTCGCATGAGCAGGTACAGCGAGGCGCTGGCGTGCGTGCGGATGGTGCTGATGCGGCTGCCACAGTGTCGTAGGAGCCTCAGGCACAGGTCGGCACACAGCTCCGTGTCCTCCTCGAACAGCAGCTCCGGGAACTGCCCCCAAGGACCCAGACAGACACTGTCCAGCCCCTCCCCGTTCTGGCTCAGAAGGGGACTGGCCCAAATGAGGACTGCTTGGGCAGGGGTTTGTGTTCTGTCCTCTTTGGCCAAGTACCACTGGGTTCGGAGTCAGACCTGGGTTTAAGCCCCTTGCTGTGTGACCCCAGGTGAGTGACTTGGCCACTCTGATTCTGCCTTCCTTCCACTGTAAACTGTGGCAAAGCAGTCAGCTCCATGGAGTTGCAGAGCACACAGTAAGTGCTCAATGAATGAGCTCCTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTCTCCCAGGCTGGAGTGCAGTGGCACAATCACAGCTCACTGCAGCTTTGAACTCCCAGGCTCAAGCCATCCTCCTGCCTCAGCCTCCCTAGTAGCTCCCTAGTAGCTGGGATCTCAGGTGGTGTGTGCCATCCTCTCTGGCTAACATTTTTTTTTTTTTTTTTTGAGACAGGCTCTCACTGTGTTGCCCAGGCTGGAGTCCAGTGGCACGATCATGGCTCACTGTAGGCTTGACCTCCCGGGCTCAAGTGATCCTCAGCCTTCCGAGTAGCTAGGACCACAGGTGCATGCCACCACACTCAGTTTATTTTTTTGTAGAAATGGGGTCTCACCGTGTTGCCCAGGCTGGTCTCGAACTCCTAGGCTCACATGATCTTCCTGCCTCAG | ACCTGTCCACCCTCTCACCTGCCCGCCCTCACCTGTCCACCCTCTCACCTGCCCATCCCTCACCTGCCCACCTTCTCACCTGTCCACCGTCTCACCTGTCCACCCTCTCACCTGTCCATCCCTTCACTTGTCTATCCCCTCACCTGCCCACCTTCTCACCTGTCCACCTCTCACCTGTCTATCCCCTTACCTGTCCACTCTCTCACCTGTCCACCCCTCACCTGCCCACCCTCTCACCTGTCCATCCCTTCAGCTGTTTGTCCCCTCATCTGTCCACCCCTCACCTGTCCATCCCCTCACTGTCTCTTCACCTGTCCACCCCTCACCTGTTCATCCCCTCACTGTCTCTTCACCTGTCCACCCCTCACCTGTTCATCTCACTTGGCCATCCCTTCACCTGTCTCCTTATCTGTCCACCTCCTCACTTGTTCATCTTCTCATCTGGCCATCTCTTCACCAGTCCATCCCTTCACCTGTCTCCTTGCCTGTTCACCCCTTCACCTGTCTCCTTGCCTGTTCACCCCTTCACCTGTCCACCCCCTCACCTGTCTATCCCCTCACCTGTCCACCCCCTCACCTGTCCATCCCTTCACCTGCCCATCCCCTTACCTGTCCACCCCCTCACCTGTGCATCCCCTCACCTGTCCATCCCTTCACCTGTCCATCCCTTCACCTGTCTGTCCCCTCACCTGTTCACCCTCTCACCTGTCCATTCCTTCGCCTGTCTATCCCCTCATCTGTCCACCCCTTTACCTATCTACCCCTCACCTGTCCATCCTTTCACTGTCTCTTCACCTGTCCACCCCCTCACCTGTTCACCTCACCTGGCCATCCCTTCAGCTGTCTCCTTATCTGTCCACCTCCTCACCTGTTCATCTTCTCATCTGGCCATCTCTTCACCAGTCCATCCCTTCACCTGTCTCCTCACCTGTTCACCTCCTGACTTCTTTACCTCCTGACCTGTCCATCCCCTCACCTGTCTATCCTGTCACCTGTGTCCTCACATGTCCACCCCCTCACTTGTGTCCTCACCTGTCCATTTCTTCACCCACTCACCTGCCTGTCCAACCCTTTTCCTGTCTTCCCACTTACCTGTCTCCTCACCCATCCATCCTACTCACCTGTCTCCTCACCTATGCAGCATCTCCCCGCTTCCTCTATTCACCTGTCTCCTCGCTTATCCAACCCCTCACCTGTCTATCCCTTCACCCCCCTGCCCCACCTTTTCATTTCTCACTTGACCCTCCGCTCTTGAGTTGACTCTACCTGTGGAAACTTGAGTCACCTGAACTCACTATTTCCCCTTCCTTGTGCACCATCTCACTTGTCTATCCACCTATCCCTCCCATATGCCCCACCTCCCCCATCTCCATCACCCGTCCGCCTCTCCTACACTCCTCAATGGGTCTACTCTCTGGATCTCATTTCCCTTCACCTGTAAGCACCTCACCTGTCCCCCTCACCTGTCCTGGCTCTCATCTGTCATCCTCATCAGTACATTCTCCTGGCATCCTCTTTACCTGTTTGCTCATCTGTTCTCTCCTTACTTGTGCCCTCATGTCTGCTCACCTGTCCCCCTCACCTGTCTGCTCCCCTATCCCCCTTACCTGTCTGCTCCCCTGTCCCCCTCACCTGTCTGCTCAGCTGTCTGCTCACCTGTCCCCCTCACCTGTCTGCTCAGCTGTCTGCTCACCTGTCCCCCTCACTTGCCTCTGTTAGGGACTGTATGCTCCCCTGCTCCCTCCTCACCTCCTTAGACATCTACTCTCATCCCTGTTCTCCCTGCACCTGTTGGGGCGTGGGCGTGGCTGAAGGTGCCAGCTGGCCCACCTCACCTGTACATGAGGTCGATGAGCATCTCAGGGTCCTCCTGGTGTTCCTTCATCTTCACCGTGTCCGTCAGGATCATGTGCAGGTTGAACATCAGGTCCTGGACCTGGAGCCGGGGAACGTCCAGGGGCCAATGAGAGCATTAGGAAGTGAAGGGAGCCAAGGTGGTGGGGTTGGGAGTTATATGAAGGGGAGGCGGGGCGGGGACCCAGCAGGTGTCTGCTCTGCGAAGGTGCTGTCCCGCAGCCCCATGTCCTCCTCAGCATAGGTGAGGATGGTTTTGAGTGAACGTCGCAGGTGCTCTTCACTGAAGTTCTGCGTCGTCCCCACCAGGGACGAGAGAGACATGGTGACCTGCATCTTCACACGGGCAAAGTTCTGCAGGGACAGGGGCGGGAGGGTGGAGCCGGGAGTCTCAGACCCCAGACCCCACATCAGAGTCTGCTCAACCTGCCGACATGGCCCTTGCGTTCTTTATTTTTTTTGAGATGGGGGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCATCTCCCGAGTTCAGGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTGCAGGCATATGCCACCACGCCCTACTAATTTTTGTATTTTTGGTAGAGACAGGGTTTCACTGTGTTGGCTATGCTGGTCTCGAACTCCTGAACTCAAGTGATTCACCTGCCTAGGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACTGCGCCCAGCATTTTTTCTTTTCTTTCTTTCTTTCTTTTTTTTTTTTTTTGAGACTGAGTGTCACTTTATCACTTAGGCTAGAATGCAGTGGTGCAATCTTGGCTCACTGCAACCTCCGCCTCTCAGGTTCAAGCGATTCTCGTGTCTCAGCCTTCCAAGTAGCTGGGATTACAGGCACCCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGCGGGGTTCCATCATGTTGGCTGGGCTGGTCTCGAACTCCTGACTTCAAGTGATCCACCTGCCTCAGCTTCCCAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCTGGCCCTTTTTTTTTTTTTTTTTTTTTTATTGAGACAAGGTCTCACTCTTGCTCAGGCTGGAGTGCAGTGGCACAGTCGTGGCCCACTGCAGCCTCAAACTCCTGGCCTCAAGTGATCCTCTCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGAATGAGCCACGGCACCTGACCCCCAATTGCATTCTGAGCCCTCCTCCTGCTCATTATGCTCAATGACTGTCTCCCCCTCCCTCACTCCCTGTATGGTTGAGACCCCACTGGCCACCCTGACCAGAGCCATGTGTGGACCATGCCTCCTAGCCCCCACTCACGTGGCCGATCTCGAAGTTCTGTCGCATGAGCAGGTACAGCGAGGCGCTGGCGTGCGTGCGGATGGTGCTGATGCGGCTGCCACAGTGTCGTAGGAGCCTCAGGCACAGGTCGGCACACAGCTCCGTGTCCTCCTCGAACAGCAGCTCCGGGAACTGCCCCCAAGGACCCAGACAGACACTGTCCAGCCCCTCCCCGTTCTGGCTCAGAAGGGGACTGGCCCAAATGAGGACTGCTTGGGCAGGGGTTTGTGTTCTGTCCTCTTTGGCCAAGTACCACTGGGTTCGGAGTCAGACCTGGGTTTAAGCCCCTTGCTGTGTGACCCCAGGTGAGTGACTTGGCCACTCTGATTCTGCCTTCCTTCCACTGTAAACTGTGGCAAAGCAGTCAGCTCCATGGAGTTGCAGAGCACACAGTAAGTGCTCAATGAATGAGCTCCTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTCTCCCAGGCTGGAGTGCAGTGGCACAATCACAGCTCACTGCAGCTTTGAACTCCCAGGCTCAAGCCATCCTCCTGCCTCAGCCTCCCTAGTAGCTCCCTAGTAGCTGGGATCTCAGGTGGTGTGTGCCATCCTCTCTGGCTAACATTTTTTTTTTTTTTTTTTGAGACAGGCTCTCACTGTGTTGCCCAGGCTGGAGTCCAGTGGCACGATCATGGCTCACTGTAGGCTTGACCTCCCGGGCTCAAGTGATCCTCAGCCTTCCGAGTAGCTAGGACCACAGGTGCATGCCACCACACTCAGTTTATTTTTTTGTAGAAATGGGGTCTCACCGTGTTGCCCAGGCTGGTCTCGAACTCCTAGGCTCACATGATCTTCCTGCCTCAGNNN | pathogenic | 298,939 |
Chromosome 19, position 11215472, gene DOCK6: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | GTGTTCTGTCCTCTTTGGCCAAGTACCACTGGGTTCGGAGTCAGACCTGGGTTTAAGCCCCTTGCTGTGTGACCCCAGGTGAGTGACTTGGCCACTCTGATTCTGCCTTCCTTCCACTGTAAACTGTGGCAAAGCAGTCAGCTCCATGGAGTTGCAGAGCACACAGTAAGTGCTCAATGAATGAGCTCCTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTCTCCCAGGCTGGAGTGCAGTGGCACAATCACAGCTCACTGCAGCTTTGAACTCCCAGGCTCAAGCCATCCTCCTGCCTCAGCCTCCCTAGTAGCTCCCTAGTAGCTGGGATCTCAGGTGGTGTGTGCCATCCTCTCTGGCTAACATTTTTTTTTTTTTTTTTTGAGACAGGCTCTCACTGTGTTGCCCAGGCTGGAGTCCAGTGGCACGATCATGGCTCACTGTAGGCTTGACCTCCCGGGCTCAAGTGATCCTCAGCCTTCCGAGTAGCTAGGACCACAGGTGCATGCCACCACACTCAGTTTATTTTTTTGTAGAAATGGGGTCTCACCGTGTTGCCCAGGCTGGTCTCGAACTCCTAGGCTCACATGATCTTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTAGTCCTAGCTAATTTTTAATTTTTTTGTAGAGACAGGGGCCTCACTATGTTGCCCAGGTTGGTCTCAAACTCCTGGCCTCAAGCGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTAGAGGCATGAGCCACTGTGCTCAGCCTAGAGCTGCTACTGTTTTTCTAAGAATCATGGTTGTTGAGTGGTGCTCACCTTGGACACAAGGGCCCTCTGGGTGGCCAGGCCATGCTGCAAGAAGAGGGCACTCTGGGCACTGCCCAGGCTGTACAGCACAACCTTCAGCACTGCCCCCAAGACGCTCTCCCGGGCTTCTGAAAGCATCACCGTCTGGAGGGAAGGGGGTCAGAAATCCAGGTGTTAGAGCCTAGGGTGGTTATGGGGAAAGGGAAGGAGAGGGATTATGGAGTCAGAGACCACAGGGCACTGCAGTTGGGCTCAGAGCACAAGGCAGATGCTGGATCAAGCCCTACCTGCACGATGATCTCCAGTGTGTCCAGAACCACTAGGCTTGCCTCGGTTGCCAGGTTCCCTTCCACCAAGGCCTCGTGTTCCATTTCATCCTTGGTCCTGGAAGGGGAAAGGAGGTCTTGGGGGCCCACTCGGGGTGAGATCCTACTCCATGGCTGAGCTCTCTCCTTCCCCTGGCAGCCCAGGGGGCACTGGCTCCCTGGAAGCTGTTCTGTTTTTTGTTTTTGTTTTTTTTGTTTTCTGAGACAGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCACCAGCTCACTGCAGCCTCAACCTCCCAGGCTCAAGTCATTCTCCCACCTCAGACTCATGAGTGGCTGGGACCACAGGCACATGCCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGTAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCGCTAGTAGCTGGGACTACAGGCACCTGCCACCACACCTGGCTTATTTTTTATATATTTTTTAGTAGAGACAAGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCTGATCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCATGCCCGGCTAATTTTTAAATTTTTGGTAGAGAGGGTCTTACTATGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCAATCCTCCTGCCTCGGCCCAAACTGTTCTGAACTCAGCAGACACCCTCCTGCCCACACCTACTTGTCCACGCGGTCTGAGGTTTGCTTCCAGTGTGTGACGCTCTTCCGCCAGCGCACATTCTCCGGATTCCCAAACGGGCTCCTCTCTGAGACGCGTGGGTGCACGATCACAGATGCGTAAAAACACAGGGCACACGTGAACATCAGGAGAAATGCACAGGCATGAAGATATTCAGGTGGGCTGACCCATGAGGGCACTGGGTGGAGCAGAAGCCTGCCGGGTGGACGCACAGGGGCAAACACGAGTGACAGATGGGGACGCACAGGCGCATGTGTACGGTGATGATTTGTGGACTTCTCTCCAGGAAAAGTGAGGCAGAAAGTAAGCTAGGGATGGCCCCCTTCATGGGGTCCCCTTGACACAAGGTGGGAGCAGCTGGTGGGATGGGGACACGTGGGTATGTCACCCTCTTACCACGACTTCGCCGAACCATTTCTTGTCGAGCTCCGATGGTACCCAGAATGGCTTCCTCTAGCCGCGCCTTCATATCCAGAGATTTTTTGAATGTGAGGCTGTTGATGCGTTCAAAGGCCTTTTTCCCCTGGGGGTGCAGAGAACTGGGGTTCCAGGCTGACTCTGCTCTTTTCGGGGGGACCTGGGCTGGCCCCATCCCTTTCTTTGTGCTCTTTCTCACCTCCGGGCCCCTGTGCTTAAAGACAGATTGCCTTTTTCCTCTAAATTCTTAGCACTTACCAAAAAAAAAATTTTTTTTTTTTCTTGAAACAGAGTCTCTCTCATTCTGTCGCCCAGGGTGAAGAGCAGTGGCATGATCTTGGCTCATTGCAACCTCCACCTCCTGGGCTCAGGCAATCCACCTCAGCCACTTCCATAGCTGGGACTACCAGCATGTGCCACCATGCTCAGGTAATTTTTGTATTTTTCGTAGAGATGGGGTTTTACCATGCTGCCCAGGCTGGTCTCAAACTCGTGGGCTCAAGCAGTTTGCCTGCCTTAGCCTCCTCAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCAGGCCCTGTTTTAAAAAAATTTCTTTTCTTCTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGTGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCGCGCCACCACACCCAGCTATTATTTTGTATTTTTAGTAGAGACGGGGTTTCAGTATGTTGGCCAGACTGCTCTTGAACTCCTGACCTCAGGCGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCCTCCACCTTCCAAATTCTATTCACAAAGGCACTTCTGACTTTATTCCTTGCCTCAGCACAGAAACAGTCCACCCCTTTCCTCTCAGTCCCACAGAGTCCTCTGCACAAAGACAGTCCACCCCTTCCCACTCAGCCCGCAGCACGCTGGGTCCCTGGGTACATCCTTAGCCTGCCTCCTCCATCATCTCCTGCCCACGCCCTCAAACCTTGTACTCAAAGGCAGCTAGGCAAAGGTACAGCAAATCCAACAGACGTCCCAGCTGGGGGAGTGTCAGGTCAGTGGCCCAGCGCTGCAGGAGCGCCGGCTCGGTGTTTTTCAGCACCCACAGCACACACGCCAGCAAGGTCCGGCTTGACTCAGCAGAGAGGGCACAGCCTGCGCGAGAAGCCTGGGGCCAGAGAGGAATCAAAGTCAATTTCCATTTTCTCCATGTGAGATGAATCCTGGCCAATCTGTATCTTGATACATGACTTCTCTCATTCAAAGTGGATGATGTCTATGGGGACAAGCCTCCCTACTCACCGTTGGTGGCCCCTGGGAGATGCTGGCCCGGGAGCCAGGGGCTAGGGGGCCACCAGCAATGGCCATGGCCACAGAGGGGTTGATGGTACCCGCAATGTCCCCTTCGCCTTCTGTGTCTGAGTCAAGCATTGAGGCCAGTCTTGACCGCTGACCTGGGCCCTCTGGCAGGGAAAGACAGAGGGAAAGAAAGATAAACCCTTGGTAAGTGCTGTCCCTGTCTCAAATTTCAGAAGTCTTCCCTCATGGCCAGGCACAGTGGCTCACGCCTGTAATACCAGCACTTTGGGAG | GTGTTCTGTCCTCTTTGGCCAAGTACCACTGGGTTCGGAGTCAGACCTGGGTTTAAGCCCCTTGCTGTGTGACCCCAGGTGAGTGACTTGGCCACTCTGATTCTGCCTTCCTTCCACTGTAAACTGTGGCAAAGCAGTCAGCTCCATGGAGTTGCAGAGCACACAGTAAGTGCTCAATGAATGAGCTCCTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTCTCCCAGGCTGGAGTGCAGTGGCACAATCACAGCTCACTGCAGCTTTGAACTCCCAGGCTCAAGCCATCCTCCTGCCTCAGCCTCCCTAGTAGCTCCCTAGTAGCTGGGATCTCAGGTGGTGTGTGCCATCCTCTCTGGCTAACATTTTTTTTTTTTTTTTTTGAGACAGGCTCTCACTGTGTTGCCCAGGCTGGAGTCCAGTGGCACGATCATGGCTCACTGTAGGCTTGACCTCCCGGGCTCAAGTGATCCTCAGCCTTCCGAGTAGCTAGGACCACAGGTGCATGCCACCACACTCAGTTTATTTTTTTGTAGAAATGGGGTCTCACCGTGTTGCCCAGGCTGGTCTCGAACTCCTAGGCTCACATGATCTTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTAGTCCTAGCTAATTTTTAATTTTTTTGTAGAGACAGGGGCCTCACTATGTTGCCCAGGTTGGTCTCAAACTCCTGGCCTCAAGCGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTAGAGGCATGAGCCACTGTGCTCAGCCTAGAGCTGCTACTGTTTTTCTAAGAATCATGGTTGTTGAGTGGTGCTCACCTTGGACACAAGGGCCCTCTGGGTGGCCAGGCCATGCTGCAAGAAGAGGGCACTCTGGGCACTGCCCAGGCTGTACAGCACAACCTTCAGCACTGCCCCCAAGACGCTCTCCCGGGCTTCTGAAAGCATCACCGTCTGGAGGGAAGGGGGTCAGAAATCCAGGTGTTAGAGCCTAGGGTGGTTATGGGGAAAGGGAAGGAGAGGGATTATGGAGTCAGAGACCACAGGGCACTGCAGTTGGGCTCAGAGCACAAGGCAGATGCTGGATCAAGCCCTACCTGCACGATGATCTCCAGTGTGTCCAGAACCACTAGGCTTGCCTCGGTTGCCAGGTTCCCTTCCACCAAGGCCTCGTGTTCCATTTCATCCTTGGTCCTGGAAGGGGAAAGGAGGTCTTGGGGGCCCACTCGGGGTGAGATCCTACTCCATGGCTGAGCTCTCTCCTTCCCCTGGCAGCCCAGGGGGCACTGGCTCCCTGGAAGCTGTTCTGTTTTTTGTTTTTGTTTTTTTTGTTTTCTGAGACAGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCACCAGCTCACTGCAGCCTCAACCTCCCAGGCTCAAGTCATTCTCCCACCTCAGACTCATGAGTGGCTGGGACCACAGGCACATGCCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGTAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCGCTAGTAGCTGGGACTACAGGCACCTGCCACCACACCTGGCTTATTTTTTATATATTTTTTAGTAGAGACAAGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCTGATCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCATGCCCGGCTAATTTTTAAATTTTTGGTAGAGAGGGTCTTACTATGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCAATCCTCCTGCCTCGGCCCAAACTGTTCTGAACTCAGCAGACACCCTCCTGCCCACACCTACTTGTCCACGCGGTCTGAGGTTTGCTTCCAGTGTGTGACGCTCTTCCGCCAGCGCACATTCTCCGGATTCCCAAACGGGCTCCTCTCTTGAGACGCGTGGGTGCACGATCACAGATGCGTAAAAACACAGGGCACACGTGAACATCAGGAGAAATGCACAGGCATGAAGATATTCAGGTGGGCTGACCCATGAGGGCACTGGGTGGAGCAGAAGCCTGCCGGGTGGACGCACAGGGGCAAACACGAGTGACAGATGGGGACGCACAGGCGCATGTGTACGGTGATGATTTGTGGACTTCTCTCCAGGAAAAGTGAGGCAGAAAGTAAGCTAGGGATGGCCCCCTTCATGGGGTCCCCTTGACACAAGGTGGGAGCAGCTGGTGGGATGGGGACACGTGGGTATGTCACCCTCTTACCACGACTTCGCCGAACCATTTCTTGTCGAGCTCCGATGGTACCCAGAATGGCTTCCTCTAGCCGCGCCTTCATATCCAGAGATTTTTTGAATGTGAGGCTGTTGATGCGTTCAAAGGCCTTTTTCCCCTGGGGGTGCAGAGAACTGGGGTTCCAGGCTGACTCTGCTCTTTTCGGGGGGACCTGGGCTGGCCCCATCCCTTTCTTTGTGCTCTTTCTCACCTCCGGGCCCCTGTGCTTAAAGACAGATTGCCTTTTTCCTCTAAATTCTTAGCACTTACCAAAAAAAAAATTTTTTTTTTTTCTTGAAACAGAGTCTCTCTCATTCTGTCGCCCAGGGTGAAGAGCAGTGGCATGATCTTGGCTCATTGCAACCTCCACCTCCTGGGCTCAGGCAATCCACCTCAGCCACTTCCATAGCTGGGACTACCAGCATGTGCCACCATGCTCAGGTAATTTTTGTATTTTTCGTAGAGATGGGGTTTTACCATGCTGCCCAGGCTGGTCTCAAACTCGTGGGCTCAAGCAGTTTGCCTGCCTTAGCCTCCTCAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCAGGCCCTGTTTTAAAAAAATTTCTTTTCTTCTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGTGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCGCGCCACCACACCCAGCTATTATTTTGTATTTTTAGTAGAGACGGGGTTTCAGTATGTTGGCCAGACTGCTCTTGAACTCCTGACCTCAGGCGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCCTCCACCTTCCAAATTCTATTCACAAAGGCACTTCTGACTTTATTCCTTGCCTCAGCACAGAAACAGTCCACCCCTTTCCTCTCAGTCCCACAGAGTCCTCTGCACAAAGACAGTCCACCCCTTCCCACTCAGCCCGCAGCACGCTGGGTCCCTGGGTACATCCTTAGCCTGCCTCCTCCATCATCTCCTGCCCACGCCCTCAAACCTTGTACTCAAAGGCAGCTAGGCAAAGGTACAGCAAATCCAACAGACGTCCCAGCTGGGGGAGTGTCAGGTCAGTGGCCCAGCGCTGCAGGAGCGCCGGCTCGGTGTTTTTCAGCACCCACAGCACACACGCCAGCAAGGTCCGGCTTGACTCAGCAGAGAGGGCACAGCCTGCGCGAGAAGCCTGGGGCCAGAGAGGAATCAAAGTCAATTTCCATTTTCTCCATGTGAGATGAATCCTGGCCAATCTGTATCTTGATACATGACTTCTCTCATTCAAAGTGGATGATGTCTATGGGGACAAGCCTCCCTACTCACCGTTGGTGGCCCCTGGGAGATGCTGGCCCGGGAGCCAGGGGCTAGGGGGCCACCAGCAATGGCCATGGCCACAGAGGGGTTGATGGTACCCGCAATGTCCCCTTCGCCTTCTGTGTCTGAGTCAAGCATTGAGGCCAGTCTTGACCGCTGACCTGGGCCCTCTGGCAGGGAAAGACAGAGGGAAAGAAAGATAAACCCTTGGTAAGTGCTGTCCCTGTCTCAAATTTCAGAAGTCTTCCCTCATGGCCAGGCACAGTGGCTCACGCCTGTAATACCAGCACTTTGGGA | benign | 298,964 |
Evaluate if the mutation on chromosome 19 at position 11217055 in DOCK6 is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic | ATCTCGGCTCACTGTAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCGCTAGTAGCTGGGACTACAGGCACCTGCCACCACACCTGGCTTATTTTTTATATATTTTTTAGTAGAGACAAGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCTGATCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCATGCCCGGCTAATTTTTAAATTTTTGGTAGAGAGGGTCTTACTATGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCAATCCTCCTGCCTCGGCCCAAACTGTTCTGAACTCAGCAGACACCCTCCTGCCCACACCTACTTGTCCACGCGGTCTGAGGTTTGCTTCCAGTGTGTGACGCTCTTCCGCCAGCGCACATTCTCCGGATTCCCAAACGGGCTCCTCTCTGAGACGCGTGGGTGCACGATCACAGATGCGTAAAAACACAGGGCACACGTGAACATCAGGAGAAATGCACAGGCATGAAGATATTCAGGTGGGCTGACCCATGAGGGCACTGGGTGGAGCAGAAGCCTGCCGGGTGGACGCACAGGGGCAAACACGAGTGACAGATGGGGACGCACAGGCGCATGTGTACGGTGATGATTTGTGGACTTCTCTCCAGGAAAAGTGAGGCAGAAAGTAAGCTAGGGATGGCCCCCTTCATGGGGTCCCCTTGACACAAGGTGGGAGCAGCTGGTGGGATGGGGACACGTGGGTATGTCACCCTCTTACCACGACTTCGCCGAACCATTTCTTGTCGAGCTCCGATGGTACCCAGAATGGCTTCCTCTAGCCGCGCCTTCATATCCAGAGATTTTTTGAATGTGAGGCTGTTGATGCGTTCAAAGGCCTTTTTCCCCTGGGGGTGCAGAGAACTGGGGTTCCAGGCTGACTCTGCTCTTTTCGGGGGGACCTGGGCTGGCCCCATCCCTTTCTTTGTGCTCTTTCTCACCTCCGGGCCCCTGTGCTTAAAGACAGATTGCCTTTTTCCTCTAAATTCTTAGCACTTACCAAAAAAAAAATTTTTTTTTTTTCTTGAAACAGAGTCTCTCTCATTCTGTCGCCCAGGGTGAAGAGCAGTGGCATGATCTTGGCTCATTGCAACCTCCACCTCCTGGGCTCAGGCAATCCACCTCAGCCACTTCCATAGCTGGGACTACCAGCATGTGCCACCATGCTCAGGTAATTTTTGTATTTTTCGTAGAGATGGGGTTTTACCATGCTGCCCAGGCTGGTCTCAAACTCGTGGGCTCAAGCAGTTTGCCTGCCTTAGCCTCCTCAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCAGGCCCTGTTTTAAAAAAATTTCTTTTCTTCTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGTGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCGCGCCACCACACCCAGCTATTATTTTGTATTTTTAGTAGAGACGGGGTTTCAGTATGTTGGCCAGACTGCTCTTGAACTCCTGACCTCAGGCGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCCTCCACCTTCCAAATTCTATTCACAAAGGCACTTCTGACTTTATTCCTTGCCTCAGCACAGAAACAGTCCACCCCTTTCCTCTCAGTCCCACAGAGTCCTCTGCACAAAGACAGTCCACCCCTTCCCACTCAGCCCGCAGCACGCTGGGTCCCTGGGTACATCCTTAGCCTGCCTCCTCCATCATCTCCTGCCCACGCCCTCAAACCTTGTACTCAAAGGCAGCTAGGCAAAGGTACAGCAAATCCAACAGACGTCCCAGCTGGGGGAGTGTCAGGTCAGTGGCCCAGCGCTGCAGGAGCGCCGGCTCGGTGTTTTTCAGCACCCACAGCACACACGCCAGCAAGGTCCGGCTTGACTCAGCAGAGAGGGCACAGCCTGCGCGAGAAGCCTGGGGCCAGAGAGGAATCAAAGTCAATTTCCATTTTCTCCATGTGAGATGAATCCTGGCCAATCTGTATCTTGATACATGACTTCTCTCATTCAAAGTGGATGATGTCTATGGGGACAAGCCTCCCTACTCACCGTTGGTGGCCCCTGGGAGATGCTGGCCCGGGAGCCAGGGGCTAGGGGGCCACCAGCAATGGCCATGGCCACAGAGGGGTTGATGGTACCCGCAATGTCCCCTTCGCCTTCTGTGTCTGAGTCAAGCATTGAGGCCAGTCTTGACCGCTGACCTGGGCCCTCTGGCAGGGAAAGACAGAGGGAAAGAAAGATAAACCCTTGGTAAGTGCTGTCCCTGTCTCAAATTTCAGAAGTCTTCCCTCATGGCCAGGCACAGTGGCTCACGCCTGTAATACCAGCACTTTGGGAGGCAGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACGTGGCAAAATCCCATCTCTACTAAAATTACAAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGTGGCACGAGAATCTCTTGAACCTGGGAGGTGGAGGTTACAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGACACTCTGTCTCAAAAAAAAAAAAAAAAAGAAGTCTTCCCTCACAACAGTCCCCAAGAGTGGGTTTCTGGTTGTCTGCTCCTGGAATTCACTTATTTTACTTATTTTATTTATTATTGTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCCGGCTGGAGTACAGTGGCCTGATCTCAGCTCACTGCAACCTCCGCCCCCCAGGTTCAAGCAATTCTCCTGCCTCAGCTTCCGGAGTAGCTGTGATTACAGGCACCCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTAGTCTCAAACTCCTGACCTTGTGATCTGCCCGTCTCAGCCTTCCAAAGTGCTGGGACTATAGGCATGAGCCATGGCGCCTGGCCTATTTTATTTTTTTTTGGATACAGTCTTGCTTTGTCACATAAGCTGGAGTACAGTGGCGCCATCTTGGCCCACTGCGACCTCTGCCTCCCGGGTTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGTATTACAGGTGCGCGCCACCGTGCATGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTACCACATTGGCCAGACTGGTTTCAAACTCCTGACCTCGAATGATCTGCCCGCCTCGGCCTCCCAAAGTATTAGGATTACAGGCGTGAGCCACTGCACTTGGCCAATTTTATTTTATTTTTTTCAGACAGGATCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTTACTGCAGCCTCAACCTCCTGAACTCAAGTGATCCTCCCACCTCAGCCTCCTGAGTAGTTGGAACTGCAGGTGCGTGCTGCCACGCCCAGCTAATTTTTGTAGTTTTTGCAGAGACGTGGTCTCACTAGGTTGTCTAGGCTGGTCCTCAACTCCTGGACTCAAGTGATCCGCCCACCTTGGACTCCCAAAGTGCTGGGATTACAGGTATGAGCCACTGCACCTGGCCTTGATGTTATTACTATAGCATCAATCAGCACTTATATGGTATCTCCTATGTGCCAGATGCTGTTCTAAGGACTTTAAAAATATTCACTCTTTCAAATCATAGGAGCTCAAGAAAAAAAAAAAATCACTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTAGAATGATCCTGGCTCACCACAACCTCCGCCTCCCAGGTTCTAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTGCAGGTGCGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTTGAAC | ATCTCGGCTCACTGTAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCGCTAGTAGCTGGGACTACAGGCACCTGCCACCACACCTGGCTTATTTTTTATATATTTTTTAGTAGAGACAAGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCTGATCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCATGCCCGGCTAATTTTTAAATTTTTGGTAGAGAGGGTCTTACTATGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCAATCCTCCTGCCTCGGCCCAAACTGTTCTGAACTCAGCAGACACCCTCCTGCCCACACCTACTTGTCCACGCGGTCTGAGGTTTGCTTCCAGTGTGTGACGCTCTTCCGCCAGCGCACATTCTCCGGATTCCCAAACGGGCTCCTCTCTGAGACGCGTGGGTGCACGATCACAGATGCGTAAAAACACAGGGCACACGTGAACATCAGGAGAAATGCACAGGCATGAAGATATTCAGGTGGGCTGACCCATGAGGGCACTGGGTGGAGCAGAAGCCTGCCGGGTGGACGCACAGGGGCAAACACGAGTGACAGATGGGGACGCACAGGCGCATGTGTACGGTGATGATTTGTGGACTTCTCTCCAGGAAAAGTGAGGCAGAAAGTAAGCTAGGGATGGCCCCCTTCATGGGGTCCCCTTGACACAAGGTGGGAGCAGCTGGTGGGATGGGGACACGTGGGTATGTCACCCTCTTACCACGACTTCGCCGAACCATTTCTTGTCGAGCTCCGATGGTACCCAGAATGGCTTCCTCTAGCCGCGCCTTCATATCCAGAGATTTTTTGAATGTGAGGCTGTTGATGCGTTCAAAGGCCTTTTTCCCCTGGGGGTGCAGAGAACTGGGGTTCCAGGCTGACTCTGCTCTTTTCGGGGGGACCTGGGCTGGCCCCATCCCTTTCTTTGTGCTCTTTCTCACCTCCGGGCCCCTGTGCTTAAAGACAGATTGCCTTTTTCCTCTAAATTCTTAGCACTTACCAAAAAAAAAATTTTTTTTTTTTCTTGAAACAGAGTCTCTCTCATTCTGTCGCCCAGGGTGAAGAGCAGTGGCATGATCTTGGCTCATTGCAACCTCCACCTCCTGGGCTCAGGCAATCCACCTCAGCCACTTCCATAGCTGGGACTACCAGCATGTGCCACCATGCTCAGGTAATTTTTGTATTTTTCGTAGAGATGGGGTTTTACCATGCTGCCCAGGCTGGTCTCAAACTCGTGGGCTCAAGCAGTTTGCCTGCCTTAGCCTCCTCAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCAGGCCCTGTTTTAAAAAAATTTCTTTTCTTCTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGTGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCGCGCCACCACACCCAGCTATTATTTTGTATTTTTAGTAGAGACGGGGTTTCAGTATGTTGGCCAGACTGCTCTTGAACTCCTGACCTCAGGCGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCCTCCACCTTCCAAATTCTATTCACAAAGGCACTTCTGACTTTATTCCTTGCCTCAGCACAGAAACAGTCCACCCCTTTCCTCTCAGTCCCACAGAGTCCTCTGCACAAAGACAGTCCACCCCTTCCCACTCAGCCCGCAGCACGCTGGGTCCCTGGGTACATCCTTAGCCTGCCTCCTCCATCATCTCCTGCCCACGCCCTCAAACCTTGTACTCAAAGGCAGCTAGGCAAAGGTACAGCAAATCCAACAGACGTCCCAGCTGGGGGAGTGTCAGGTCAGTGGCCCAGCGCTGCAGGAGCGCCGGCTCGGTGTTTTTCAGCACCCACAGCACACACGCCAGCAAGGTCCTCAGCAGAGAGGGCACAGCCTGCGCGAGAAGCCTGGGGCCAGAGAGGAATCAAAGTCAATTTCCATTTTCTCCATGTGAGATGAATCCTGGCCAATCTGTATCTTGATACATGACTTCTCTCATTCAAAGTGGATGATGTCTATGGGGACAAGCCTCCCTACTCACCGTTGGTGGCCCCTGGGAGATGCTGGCCCGGGAGCCAGGGGCTAGGGGGCCACCAGCAATGGCCATGGCCACAGAGGGGTTGATGGTACCCGCAATGTCCCCTTCGCCTTCTGTGTCTGAGTCAAGCATTGAGGCCAGTCTTGACCGCTGACCTGGGCCCTCTGGCAGGGAAAGACAGAGGGAAAGAAAGATAAACCCTTGGTAAGTGCTGTCCCTGTCTCAAATTTCAGAAGTCTTCCCTCATGGCCAGGCACAGTGGCTCACGCCTGTAATACCAGCACTTTGGGAGGCAGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACGTGGCAAAATCCCATCTCTACTAAAATTACAAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGTGGCACGAGAATCTCTTGAACCTGGGAGGTGGAGGTTACAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGACACTCTGTCTCAAAAAAAAAAAAAAAAAGAAGTCTTCCCTCACAACAGTCCCCAAGAGTGGGTTTCTGGTTGTCTGCTCCTGGAATTCACTTATTTTACTTATTTTATTTATTATTGTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCCGGCTGGAGTACAGTGGCCTGATCTCAGCTCACTGCAACCTCCGCCCCCCAGGTTCAAGCAATTCTCCTGCCTCAGCTTCCGGAGTAGCTGTGATTACAGGCACCCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTAGTCTCAAACTCCTGACCTTGTGATCTGCCCGTCTCAGCCTTCCAAAGTGCTGGGACTATAGGCATGAGCCATGGCGCCTGGCCTATTTTATTTTTTTTTGGATACAGTCTTGCTTTGTCACATAAGCTGGAGTACAGTGGCGCCATCTTGGCCCACTGCGACCTCTGCCTCCCGGGTTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGTATTACAGGTGCGCGCCACCGTGCATGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTACCACATTGGCCAGACTGGTTTCAAACTCCTGACCTCGAATGATCTGCCCGCCTCGGCCTCCCAAAGTATTAGGATTACAGGCGTGAGCCACTGCACTTGGCCAATTTTATTTTATTTTTTTCAGACAGGATCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTTACTGCAGCCTCAACCTCCTGAACTCAAGTGATCCTCCCACCTCAGCCTCCTGAGTAGTTGGAACTGCAGGTGCGTGCTGCCACGCCCAGCTAATTTTTGTAGTTTTTGCAGAGACGTGGTCTCACTAGGTTGTCTAGGCTGGTCCTCAACTCCTGGACTCAAGTGATCCGCCCACCTTGGACTCCCAAAGTGCTGGGATTACAGGTATGAGCCACTGCACCTGGCCTTGATGTTATTACTATAGCATCAATCAGCACTTATATGGTATCTCCTATGTGCCAGATGCTGTTCTAAGGACTTTAAAAATATTCACTCTTTCAAATCATAGGAGCTCAAGAAAAAAAAAAAATCACTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTAGAATGATCCTGGCTCACCACAACCTCCGCCTCCCAGGTTCTAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTGCAGGTGCGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTTGAACNNNNNNNN | pathogenic | 298,974 |
Subsets and Splits
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