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}, "referenceSequence": "http://reg.genome.network/refseq/RS578894" }, { "coordinates": [ { "allele": "A", "end": 5042, "referenceAllele": "T", "start": 5041 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_000109.4:c.4919T>A" ], "proteinEffect": { "hgvs": "NP_000100.3:p.Leu1640Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS674704" }, { "coordinates": [ { "allele": "A", "end": 5180, "referenceAllele": "T", "start": 5179 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004006.3:c.4943T>A" ], "proteinEffect": { "hgvs": "NP_003997.2:p.Leu1648Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS696014", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357033.9:c.4943T>A" }, "RefSeq": { "hgvs": "NM_004006.3:c.4943T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000354923.3:p.Leu1648Ter" }, "RefSeq": { "hgvs": "NP_003997.2:p.Leu1648Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 939, "referenceAllele": "T", "start": 938 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004011.4:c.920T>A" ], "proteinEffect": { "hgvs": "NP_004002.3:p.Leu307Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS696015" }, { "coordinates": [ { "allele": "A", "end": 1082, "referenceAllele": "T", "start": 1081 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004012.4:c.911T>A" ], "proteinEffect": { "hgvs": "NP_004003.2:p.Leu304Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS696016" } ], "type": "nucleotide" }