{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA3268024439", "communityStandardTitle": [ "NC_000019.10:g.11113433_11116114del" ], "genomicAlleles": [ { "chromosome": "19", "coordinates": [ { "allele": "", "end": 11116114, "referenceAllele": "CAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTG", "start": 11113432 } ], "hgvs": [ "NC_000019.10:g.11113433_11116114del", "CM000681.2:g.11113433_11116114del" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000067" }, { "chromosome": "19", "coordinates": [ { "allele": "", "end": 11226790, "referenceAllele": "CAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTG", "start": 11224108 } ], "hgvs": [ "NC_000019.9:g.11224109_11226790del", "CM000681.1:g.11224109_11226790del" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000043" }, { "chromosome": "19", "coordinates": [ { "allele": "", "end": 11087790, "referenceAllele": "CAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTG", "start": 11085108 } ], "hgvs": [ "NC_000019.8:g.11085109_11087790del" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000019" }, { "coordinates": [ { "allele": "", "end": 31734, "referenceAllele": "CAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTG", "start": 29052 } ], "hgvs": [ "NG_009060.1:g.29053_31734del", "LRG_274:g.29053_31734del" ], "referenceSequence": "http://reg.genome.network/refseq/RS001402" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "", "end": 1881, "referenceAllele": "CAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTG", "start": 1615 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000252444.10:c.1600_1865del" ], "referenceSequence": "http://reg.genome.network/refseq/RS913948" }, { "coordinates": [ { "allele": "", "end": 1738, "referenceAllele": "CAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTG", "start": 1472 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000559340.2:c.1342_1607del" ], "referenceSequence": "http://reg.genome.network/refseq/RS914275" }, { "coordinates": [ { "allele": "", "end": 1572, "referenceAllele": "CAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTG", "start": 1306 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000560467.2:c.1222_1487del" ], "referenceSequence": "http://reg.genome.network/refseq/RS914281" }, { "coordinates": [ { "allele": "", "end": 1693, "referenceAllele": "CAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTG", "start": 1427 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000558518.6:c.1342_1607del" ], "referenceSequence": "http://reg.genome.network/refseq/RS760238" }, { "coordinates": [ { "allele": "", "end": 1861, "referenceAllele": "CAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTG", "start": 1595 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000252444.9:c.1596_1861del" ], "referenceSequence": "http://reg.genome.network/refseq/RS247326" }, { "coordinates": [ { "allele": "", "end": 1189, "referenceAllele": "CAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTG", "start": 923 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000455727.6:c.838_1103del" ], "referenceSequence": "http://reg.genome.network/refseq/RS247277" }, { "coordinates": [ { "allele": "", "end": 1570, "referenceAllele": "CAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTG", "start": 1304 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000535915.5:c.1219_1484del" ], "referenceSequence": "http://reg.genome.network/refseq/RS246643" }, { "coordinates": [ { "allele": "", "end": 1312, "referenceAllele": "CAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTG", "start": 1046 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000545707.5:c.961_1226del" ], "referenceSequence": "http://reg.genome.network/refseq/RS247253" }, { "coordinates": [ { "allele": "", "end": 1694, "referenceAllele": "CAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTG", "start": 1428 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000557933.5:c.1342_1607del" ], "referenceSequence": "http://reg.genome.network/refseq/RS247231" }, { "coordinates": [ { "allele": "", "end": 1678, "referenceAllele": "CAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTG", "start": 1412 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000558013.5:c.1342_1607del" ], "referenceSequence": "http://reg.genome.network/refseq/RS247327" }, { "coordinates": [ { "allele": "", "end": 1794, "referenceAllele": "CAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTG", "start": 1528 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000558518.5:c.1342_1607del" ], "referenceSequence": "http://reg.genome.network/refseq/RS246630" }, { "coordinates": [ { "allele": "", "end": 328, "referenceAllele": "CAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTG", "start": 62 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000559340.1:c.63_328del" ], "referenceSequence": "http://reg.genome.network/refseq/RS374505" }, { "coordinates": [ { "allele": "", "end": 1794, "referenceAllele": "CAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTG", "start": 1528 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_000527.4:c.1342_1607del", "LRG_274t1:c.1342_1607del" ], "referenceSequence": "http://reg.genome.network/refseq/RS006584" }, { "coordinates": [ { "allele": "", "end": 1794, "referenceAllele": "CAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTG", "start": 1528 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_001195798.1:c.1342_1607del" ], "referenceSequence": "http://reg.genome.network/refseq/RS016674" }, { "coordinates": [ { "allele": "", "end": 1671, "referenceAllele": "CAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTG", "start": 1405 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_001195799.1:c.1219_1484del" ], "referenceSequence": "http://reg.genome.network/refseq/RS016675" }, { "coordinates": [ { "allele": "", "end": 1290, "referenceAllele": "CAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTG", "start": 1024 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_001195800.1:c.838_1103del" ], "referenceSequence": "http://reg.genome.network/refseq/RS016676" }, { "coordinates": [ { "allele": "", "end": 1413, "referenceAllele": "CAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTG", "start": 1147 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_001195803.1:c.961_1226del" ], "referenceSequence": "http://reg.genome.network/refseq/RS016677" }, { "coordinates": [ { "allele": "", "end": 1757, "referenceAllele": "CAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTG", "start": 1491 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "XM_011528010.1:c.1342_1607del" ], "referenceSequence": "http://reg.genome.network/refseq/RS095090" }, { "coordinates": [ { "allele": "", "end": 1408, "referenceAllele": "CAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTG", "start": 1142 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "XM_011528011.1:c.961_1226del" ], "referenceSequence": "http://reg.genome.network/refseq/RS095091" }, { "coordinates": [ { "allele": "", "end": 1757, "referenceAllele": "CAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTG", "start": 1491 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "XR_244074.2:n.1492_1757del" ], "referenceSequence": "http://reg.genome.network/refseq/RS116667" }, { "coordinates": [ { "allele": "", "end": 1724, "referenceAllele": "CAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTG", "start": 1458 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "XM_011528010.2:c.1342_1607del" ], "referenceSequence": "http://reg.genome.network/refseq/RS548934" }, { "coordinates": [ { "allele": "", "end": 1724, "referenceAllele": "CAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTG", "start": 1458 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "XR_001753685.2:n.1459_1724del" ], "referenceSequence": "http://reg.genome.network/refseq/RS600154" }, { "coordinates": [ { "allele": "", "end": 1724, "referenceAllele": "CAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTG", "start": 1458 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "XR_001753686.2:n.1459_1724del" ], "referenceSequence": "http://reg.genome.network/refseq/RS600155" }, { "coordinates": [ { "allele": "", "end": 1693, "referenceAllele": "CAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTG", "start": 1427 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_000527.5:c.1342_1607del" ], "referenceSequence": "http://reg.genome.network/refseq/RS674880" }, { "coordinates": [ { "allele": "", "end": 1693, "referenceAllele": "CAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTG", "start": 1427 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_001195798.2:c.1342_1607del" ], "referenceSequence": "http://reg.genome.network/refseq/RS679343" }, { "coordinates": [ { "allele": "", "end": 1570, "referenceAllele": "CAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTG", "start": 1304 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_001195799.2:c.1219_1484del" ], "referenceSequence": "http://reg.genome.network/refseq/RS679344" }, { "coordinates": [ { "allele": "", "end": 1189, "referenceAllele": "CAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTG", "start": 923 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_001195800.2:c.838_1103del" ], "referenceSequence": "http://reg.genome.network/refseq/RS679345" }, { "coordinates": [ { "allele": "", "end": 1312, "referenceAllele": "CAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTG", "start": 1046 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_001195803.2:c.961_1226del" ], "referenceSequence": "http://reg.genome.network/refseq/RS679346" } ], "type": "nucleotide" }