{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA3260672811", "communityStandardTitle": [ "NC_000019.10:g.11111640_11116093del" ], "genomicAlleles": [ { "chromosome": "19", "coordinates": [ { "allele": "", "end": 11116093, "referenceAllele": "GTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAG", "start": 11111639 } ], "hgvs": [ "NC_000019.10:g.11111640_11116093del", "CM000681.2:g.11111640_11116093del" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000067" }, { "chromosome": "19", "coordinates": [ { "allele": "", "end": 11226769, "referenceAllele": "GTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAG", "start": 11222315 } ], "hgvs": [ "NC_000019.9:g.11222316_11226769del", "CM000681.1:g.11222316_11226769del" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000043" }, { "chromosome": "19", "coordinates": [ { "allele": "", "end": 11087769, "referenceAllele": "GTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAG", "start": 11083315 } ], "hgvs": [ "NC_000019.8:g.11083316_11087769del" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000019" }, { "coordinates": [ { "allele": "", "end": 31713, "referenceAllele": "GTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAG", "start": 27259 } ], "hgvs": [ "NG_009060.1:g.27260_31713del", "LRG_274:g.27260_31713del" ], "referenceSequence": "http://reg.genome.network/refseq/RS001402" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "", "end": 1860, "endIntronDirection": "-", "endIntronOffset": 0, "referenceAllele": "GTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAG", "start": 1460, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000252444.10:c.1444+1_1845-1del" ], "referenceSequence": "http://reg.genome.network/refseq/RS913948" }, { "coordinates": [ { "allele": "", "end": 1717, "endIntronDirection": "-", "endIntronOffset": 0, "referenceAllele": "GTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAG", "start": 1317, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000559340.2:c.1186+1_1587-1del" ], "referenceSequence": "http://reg.genome.network/refseq/RS914275" }, { "coordinates": [ { "allele": "", "end": 1551, "endIntronDirection": "-", "endIntronOffset": 0, "referenceAllele": "GTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAG", "start": 1151, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000560467.2:c.1066+1_1467-1del" ], "referenceSequence": "http://reg.genome.network/refseq/RS914281" }, { "coordinates": [ { "allele": "", "end": 1672, "endIntronDirection": "-", "endIntronOffset": 0, "referenceAllele": "GTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAG", "start": 1272, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000558518.6:c.1186+1_1587-1del" ], "referenceSequence": "http://reg.genome.network/refseq/RS760238" }, { "coordinates": [ { "allele": "", "end": 1840, "endIntronDirection": "-", "endIntronOffset": 0, "referenceAllele": "GTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAG", "start": 1440, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000252444.9:c.1440+1_1841-1del" ], "referenceSequence": "http://reg.genome.network/refseq/RS247326" }, { "coordinates": [ { "allele": "", "end": 1168, "endIntronDirection": "-", "endIntronOffset": 0, "referenceAllele": "GTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAG", "start": 768, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000455727.6:c.682+1_1083-1del" ], "referenceSequence": "http://reg.genome.network/refseq/RS247277" }, { "coordinates": [ { "allele": "", "end": 1549, "endIntronDirection": "-", "endIntronOffset": 0, "referenceAllele": "GTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAG", "start": 1149, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000535915.5:c.1063+1_1464-1del" ], "referenceSequence": "http://reg.genome.network/refseq/RS246643" }, { "coordinates": [ { "allele": "", "end": 1291, "endIntronDirection": "-", "endIntronOffset": 0, "referenceAllele": "GTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAG", "start": 891, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000545707.5:c.805+1_1206-1del" ], "referenceSequence": "http://reg.genome.network/refseq/RS247253" }, { "coordinates": [ { "allele": "", "end": 1673, "endIntronDirection": "-", "endIntronOffset": 0, "referenceAllele": "GTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAG", "start": 1273, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000557933.5:c.1186+1_1587-1del" ], "referenceSequence": "http://reg.genome.network/refseq/RS247231" }, { "coordinates": [ { "allele": "", "end": 1657, "endIntronDirection": "-", "endIntronOffset": 0, "referenceAllele": "GTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAG", "start": 1257, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000558013.5:c.1186+1_1587-1del" ], "referenceSequence": "http://reg.genome.network/refseq/RS247327" }, { "coordinates": [ { "allele": "", "end": 1773, "endIntronDirection": "-", "endIntronOffset": 0, "referenceAllele": "GTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAG", "start": 1373, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000558518.5:c.1186+1_1587-1del" ], "referenceSequence": "http://reg.genome.network/refseq/RS246630" }, { "coordinates": [ { "allele": "", "end": 1773, "endIntronDirection": "-", "endIntronOffset": 0, "referenceAllele": "GTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAG", "start": 1373, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_000527.4:c.1186+1_1587-1del", "LRG_274t1:c.1186+1_1587-1del" ], "referenceSequence": "http://reg.genome.network/refseq/RS006584" }, { "coordinates": [ { "allele": "", "end": 1773, "endIntronDirection": "-", "endIntronOffset": 0, "referenceAllele": "GTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAG", "start": 1373, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_001195798.1:c.1186+1_1587-1del" ], "referenceSequence": "http://reg.genome.network/refseq/RS016674" }, { "coordinates": [ { "allele": "", "end": 1650, "endIntronDirection": "-", "endIntronOffset": 0, "referenceAllele": "GTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAG", "start": 1250, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_001195799.1:c.1063+1_1464-1del" ], "referenceSequence": "http://reg.genome.network/refseq/RS016675" }, { "coordinates": [ { "allele": "", "end": 1269, "endIntronDirection": "-", "endIntronOffset": 0, "referenceAllele": "GTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAG", "start": 869, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_001195800.1:c.682+1_1083-1del" ], "referenceSequence": "http://reg.genome.network/refseq/RS016676" }, { "coordinates": [ { "allele": "", "end": 1392, "endIntronDirection": "-", "endIntronOffset": 0, "referenceAllele": "GTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAG", "start": 992, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_001195803.1:c.805+1_1206-1del" ], "referenceSequence": "http://reg.genome.network/refseq/RS016677" }, { "coordinates": [ { "allele": "", "end": 1736, "endIntronDirection": "-", "endIntronOffset": 0, "referenceAllele": "GTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAG", "start": 1336, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "XM_011528010.1:c.1186+1_1587-1del" ], "referenceSequence": "http://reg.genome.network/refseq/RS095090" }, { "coordinates": [ { "allele": "", "end": 1387, "endIntronDirection": "-", "endIntronOffset": 0, "referenceAllele": "GTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAG", "start": 987, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "XM_011528011.1:c.805+1_1206-1del" ], "referenceSequence": "http://reg.genome.network/refseq/RS095091" }, { "coordinates": [ { "allele": "", "end": 1736, "endIntronDirection": "-", "endIntronOffset": 0, "referenceAllele": "GTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAG", "start": 1336, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "XR_244074.2:n.1336+1_1737-1del" ], "referenceSequence": "http://reg.genome.network/refseq/RS116667" }, { "coordinates": [ { "allele": "", "end": 1703, "endIntronDirection": "-", "endIntronOffset": 0, "referenceAllele": "GTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAG", "start": 1303, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "XM_011528010.2:c.1186+1_1587-1del" ], "referenceSequence": "http://reg.genome.network/refseq/RS548934" }, { "coordinates": [ { "allele": "", "end": 1703, "endIntronDirection": "-", "endIntronOffset": 0, "referenceAllele": "GTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAG", "start": 1303, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "XR_001753685.2:n.1303+1_1704-1del" ], "referenceSequence": "http://reg.genome.network/refseq/RS600154" }, { "coordinates": [ { "allele": "", "end": 1703, "endIntronDirection": "-", "endIntronOffset": 0, "referenceAllele": "GTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAG", "start": 1303, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "XR_001753686.2:n.1303+1_1704-1del" ], "referenceSequence": "http://reg.genome.network/refseq/RS600155" }, { "coordinates": [ { "allele": "", "end": 1672, "endIntronDirection": "-", "endIntronOffset": 0, "referenceAllele": "GTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAG", "start": 1272, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_000527.5:c.1186+1_1587-1del" ], "referenceSequence": "http://reg.genome.network/refseq/RS674880" }, { "coordinates": [ { "allele": "", "end": 1672, "endIntronDirection": "-", "endIntronOffset": 0, "referenceAllele": "GTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAG", "start": 1272, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_001195798.2:c.1186+1_1587-1del" ], "referenceSequence": "http://reg.genome.network/refseq/RS679343" }, { "coordinates": [ { "allele": "", "end": 1549, "endIntronDirection": "-", "endIntronOffset": 0, "referenceAllele": "GTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAG", "start": 1149, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_001195799.2:c.1063+1_1464-1del" ], "referenceSequence": "http://reg.genome.network/refseq/RS679344" }, { "coordinates": [ { "allele": "", "end": 1168, "endIntronDirection": "-", "endIntronOffset": 0, "referenceAllele": "GTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAG", "start": 768, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_001195800.2:c.682+1_1083-1del" ], "referenceSequence": "http://reg.genome.network/refseq/RS679345" }, { "coordinates": [ { "allele": "", "end": 1291, "endIntronDirection": "-", "endIntronOffset": 0, "referenceAllele": "GTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGGTCTCGATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGTGGCAATAAGGTCTCATTGTCTTGCCCAGGCTAGCCTTATGCTCCTAGCCTCAAGTGATCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGCGCCACTGTGCCTGTTCCCGTTGGGAGGTCTTTTCCACCCTCTTTTTCTGGGTGCCTCCTCTGGCTCAGCCGCACCCTGCAGGATGACACAAGGGGATGGGGAGGCACTCTTGGTTCCATCGACGGGTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAG", "start": 891, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_001195803.2:c.805+1_1206-1del" ], "referenceSequence": "http://reg.genome.network/refseq/RS679346" } ], "type": "nucleotide" }