{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA2497030066", "communityStandardTitle": [ "NC_000019.10:g.11113656_11116107del" ], "genomicAlleles": [ { "chromosome": "19", "coordinates": [ { "allele": "", "end": 11116107, "referenceAllele": "GTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGA", "start": 11113655 } ], "hgvs": [ "NC_000019.10:g.11113656_11116107del", "CM000681.2:g.11113656_11116107del" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000067" }, { "chromosome": "19", "coordinates": [ { "allele": "", "end": 11226783, "referenceAllele": "GTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGA", "start": 11224331 } ], "hgvs": [ "NC_000019.9:g.11224332_11226783del", "CM000681.1:g.11224332_11226783del" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000043" }, { "chromosome": "19", "coordinates": [ { "allele": "", "end": 11087783, "referenceAllele": "GTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGA", "start": 11085331 } ], "hgvs": [ "NC_000019.8:g.11085332_11087783del" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000019" }, { "coordinates": [ { "allele": "", "end": 31727, "referenceAllele": "GTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGA", "start": 29275 } ], "hgvs": [ "NG_009060.1:g.29276_31727del", "LRG_274:g.29276_31727del" ], "referenceSequence": "http://reg.genome.network/refseq/RS001402" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "", "end": 1874, "referenceAllele": "GTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGA", "start": 1753 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000252444.10:c.1738_1858del" ], "referenceSequence": "http://reg.genome.network/refseq/RS913948" }, { "coordinates": [ { "allele": "", "end": 1731, "referenceAllele": "GTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGA", "start": 1610 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000559340.2:c.1480_1600del" ], "referenceSequence": "http://reg.genome.network/refseq/RS914275" }, { "coordinates": [ { "allele": "", "end": 1565, "referenceAllele": "GTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGA", "start": 1444 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000560467.2:c.1360_1480del" ], "referenceSequence": "http://reg.genome.network/refseq/RS914281" }, { "coordinates": [ { "allele": "", "end": 1686, "referenceAllele": "GTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGA", "start": 1565 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000558518.6:c.1480_1600del" ], "referenceSequence": "http://reg.genome.network/refseq/RS760238" }, { "coordinates": [ { "allele": "", "end": 1854, "referenceAllele": "GTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGA", "start": 1733 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000252444.9:c.1734_1854del" ], "referenceSequence": "http://reg.genome.network/refseq/RS247326" }, { "coordinates": [ { "allele": "", "end": 1182, "referenceAllele": "GTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGA", "start": 1061 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000455727.6:c.976_1096del" ], "referenceSequence": "http://reg.genome.network/refseq/RS247277" }, { "coordinates": [ { "allele": "", "end": 1563, "referenceAllele": "GTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGA", "start": 1442 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000535915.5:c.1357_1477del" ], "referenceSequence": "http://reg.genome.network/refseq/RS246643" }, { "coordinates": [ { "allele": "", "end": 1305, "referenceAllele": "GTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGA", "start": 1184 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000545707.5:c.1099_1219del" ], "referenceSequence": "http://reg.genome.network/refseq/RS247253" }, { "coordinates": [ { "allele": "", "end": 1687, "referenceAllele": "GTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGA", "start": 1566 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000557933.5:c.1480_1600del" ], "referenceSequence": "http://reg.genome.network/refseq/RS247231" }, { "coordinates": [ { "allele": "", "end": 1671, "referenceAllele": "GTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGA", "start": 1550 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000558013.5:c.1480_1600del" ], "referenceSequence": "http://reg.genome.network/refseq/RS247327" }, { "coordinates": [ { "allele": "", "end": 1787, "referenceAllele": "GTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGA", "start": 1666 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000558518.5:c.1480_1600del" ], "referenceSequence": "http://reg.genome.network/refseq/RS246630" }, { "coordinates": [ { "allele": "", "end": 321, "referenceAllele": "GTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGA", "start": 200 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000559340.1:c.201_321del" ], "referenceSequence": "http://reg.genome.network/refseq/RS374505" }, { "coordinates": [ { "allele": "", "end": 1787, "referenceAllele": "GTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGA", "start": 1666 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_000527.4:c.1480_1600del", "LRG_274t1:c.1480_1600del" ], "referenceSequence": "http://reg.genome.network/refseq/RS006584" }, { "coordinates": [ { "allele": "", "end": 1787, "referenceAllele": "GTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGA", "start": 1666 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_001195798.1:c.1480_1600del" ], "referenceSequence": "http://reg.genome.network/refseq/RS016674" }, { "coordinates": [ { "allele": "", "end": 1664, "referenceAllele": "GTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGA", "start": 1543 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_001195799.1:c.1357_1477del" ], "referenceSequence": "http://reg.genome.network/refseq/RS016675" }, { "coordinates": [ { "allele": "", "end": 1283, "referenceAllele": "GTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGA", "start": 1162 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_001195800.1:c.976_1096del" ], "referenceSequence": "http://reg.genome.network/refseq/RS016676" }, { "coordinates": [ { "allele": "", "end": 1406, "referenceAllele": "GTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGA", "start": 1285 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_001195803.1:c.1099_1219del" ], "referenceSequence": "http://reg.genome.network/refseq/RS016677" }, { "coordinates": [ { "allele": "", "end": 1750, "referenceAllele": "GTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGA", "start": 1629 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "XM_011528010.1:c.1480_1600del" ], "referenceSequence": "http://reg.genome.network/refseq/RS095090" }, { "coordinates": [ { "allele": "", "end": 1401, "referenceAllele": "GTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGA", "start": 1280 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "XM_011528011.1:c.1099_1219del" ], "referenceSequence": "http://reg.genome.network/refseq/RS095091" }, { "coordinates": [ { "allele": "", "end": 1750, "referenceAllele": "GTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGA", "start": 1629 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "XR_244074.2:n.1630_1750del" ], "referenceSequence": "http://reg.genome.network/refseq/RS116667" }, { "coordinates": [ { "allele": "", "end": 1717, "referenceAllele": "GTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGA", "start": 1596 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "XM_011528010.2:c.1480_1600del" ], "referenceSequence": "http://reg.genome.network/refseq/RS548934" }, { "coordinates": [ { "allele": "", "end": 1717, "referenceAllele": "GTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGA", "start": 1596 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "XR_001753685.2:n.1597_1717del" ], "referenceSequence": "http://reg.genome.network/refseq/RS600154" }, { "coordinates": [ { "allele": "", "end": 1717, "referenceAllele": "GTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGA", "start": 1596 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "XR_001753686.2:n.1597_1717del" ], "referenceSequence": "http://reg.genome.network/refseq/RS600155" }, { "coordinates": [ { "allele": "", "end": 1686, "referenceAllele": "GTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGA", "start": 1565 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_000527.5:c.1480_1600del" ], "referenceSequence": "http://reg.genome.network/refseq/RS674880" }, { "coordinates": [ { "allele": "", "end": 1686, "referenceAllele": "GTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGA", "start": 1565 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_001195798.2:c.1480_1600del" ], "referenceSequence": "http://reg.genome.network/refseq/RS679343" }, { "coordinates": [ { "allele": "", "end": 1563, "referenceAllele": "GTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGA", "start": 1442 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_001195799.2:c.1357_1477del" ], "referenceSequence": "http://reg.genome.network/refseq/RS679344" }, { "coordinates": [ { "allele": "", "end": 1182, "referenceAllele": "GTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGA", "start": 1061 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_001195800.2:c.976_1096del" ], "referenceSequence": "http://reg.genome.network/refseq/RS679345" }, { "coordinates": [ { "allele": "", "end": 1305, "referenceAllele": "GTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGA", "start": 1184 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_001195803.2:c.1099_1219del" ], "referenceSequence": "http://reg.genome.network/refseq/RS679346" } ], "type": "nucleotide" }