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}, "referenceSequence": "http://reg.genome.network/refseq/RS578893" }, { "coordinates": [ { "allele": "T", "end": 3759, "referenceAllele": "A", "start": 3758 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_017029330.2:c.3562A>T" ], "proteinEffect": { "hgvs": "XP_016884819.1:p.Lys1188Ter", "hgvsWellDefined": "XP_016884819.1:p.Lys1188_Ile2160delinsThrProAspGluLeuGlnLysAlaValGluGluMetLysArgAlaLysGluGluAlaGlnGlnLysGluAlaLysValLysLeuLeuThrGluSerValAsnSerValIleAlaGlnAlaProProValAlaGlnGluAlaLeuLysLysGluLeuGluThrLeuThrThrAsnTyrGlnTrpLeuCysThrArgLeuAsnGlyLysCysLysThrLeuGluGluValTrpAlaCysTrpHisGluLeuLeuSerTyrLeuGluLysAlaAsnLysTrpLeuAsnGluValGluPheLysLeuLysThrThrGluAsnIleProGlyGlyAlaGluGluIleSerGluValLeuAspSerLeuGluAsnLeuMetArgHisSerGluAspAsnProAsnGlnIleArgIleLeuAlaGlnThrLeuThrAspGlyGlyValMetAspGluLeuIleAsnGluGluLeuGluThrPheAsnSerArgTrpArgGluLeuHisGluGluAlaValArgArgGlnLysLeuLeuGluGlnSerIleGlnSerAlaGlnGluThrGluLysSerLeuHisLeuIleGlnGluSerLeuThrPheIleAspLysGlnLeuAlaAlaTyrIleAlaAspLysValAspAlaAlaGlnMetProGlnGluAlaGlnLysIleGlnSerAspLeuThrSerHisGluIleSerLeuGluGluMetLysLysHisAsnGlnGlyLysGluAlaAlaGlnArgValLeuSerGlnIleAspValAlaGlnLysLysLeuGlnAspValSerMetLysPheArgLeuPheGlnLysProAlaAsnPheGluGlnArgLeuGlnGluSerLysMetIleLeuAspGluValLysMetHisLeuProAlaLeuGluThrLysSerValGluGlnGluValValGlnSerGlnLeuAsnHisCysValAsnLeuTyrLysSerLeuSerGluValLysSerGluValGluMetValIleLysThrGlyArgGlnIleValGlnLysLysGlnThrGluAsnProLysGluLeuAspGluArgValThrAlaLeuLysLeuHisTyrAsnGluLeuGlyAlaLysValThrGluArgLysGlnGlnLeuGluLysCysLeuLysLeuSerArgLysMetArgLysGluMetAsnValLeuThrGluTrpLeuAlaAlaThrAspMetGluLeuThrLysArgSerAlaValGluGlyMetProSerAsnLeuAspSerGluValAlaTrpGlyLysAlaThrGlnLysGluIleGluLysGlnLysValHisLeuLysSerIleThrGluValGlyGluAlaLeuLysThrValLeuGlyLysLysGluThrLeuValGluAspLysLeuSerLeuLeuAsnSerAsnTrpIleAlaValThrSerArgAlaGluGluTrpLeuAsnLeuLeuLeuGluTyrGlnLysHisMetGluThrPheAspGlnAsnValAspHisIleThrLysTrpIleIleGlnAlaAspThrLeuLeuAspGluSerGluLysLysLysProGlnGlnLysGluAspValLeuLysArgLeuLysAlaGluLeuAsnAspIleArgProLysValAspSerThrArgAspGlnAlaAlaAsnLeuMetAlaAsnArgGlyAspHisCysArgLysLeuValGluProGlnIleSerGluLeuAsnHisArgPheAlaAlaIleSerHisArgIleLysThrGlyLysAlaSerIleProLeuLysGluLeuGluGlnPheAsnSerAspIleGlnLysLeuLeuGluProLeuGluAlaGluIleGlnGlnGlyValAsnLeuLysGluGluAspPheAsnLysAspMetAsnGluAspAsnGluGlyThrValLysGluLeuLeuGlnArgGlyAspAsnLeuGlnGlnArgIleThrAspGluArgLysArgGluGluIleLysIleLysGlnGlnLeuLeuGlnThrLysHisAsnAlaLeuLysAspLeuArgSerGlnArgArgLysLysAlaLeuGluIleSerHisGlnTrpTyrGlnTyrLysArgGlnAlaAspAspLeuLeuLysCysLeuAspAspIleGluLysLysLeuAlaSerLeuProGluProArgAspGluArgLysIleLysGluIleAspArgGluLeuGlnLysLysLysGluGluLeuAsnAlaValArgArgGlnAlaGluGlyLeuSerGluAspGlyAlaAlaMetAlaValGluProThrGlnIleGlnLeuSerLysArgTrpArgGluIleGluSerLysPheAlaGlnPheArgArgLeuAsnPheAlaGlnIleHisThrValArgGluGluThrMetMetValMetThrGluAspMetProLeuGluIleSerTyrValProSerThrTyrLeuThrGluIleThrHisValSerGlnAlaLeuLeuGluValGluGlnLeuLeuAsnAlaProAspLeuCysAlaLysAspPheGluAspLeuPheLysGlnGluGluSerLeuLysAsnIleLysAspSerLeuGlnGlnSerSerGlyArgIleAspIleIleHisSerLysLysThrAlaAlaLeuGlnSerAlaThrProValGluArgValLysLeuGlnGluAlaLeuSerGlnLeuAspPheGlnTrpGluLysValAsnLysMetTyrLysAspArgGlnGlyArgPheAspArgSerValGluLysTrpArgArgPheHisTyrAspIleLysIlePheAsnGlnTrpLeuThrGluAlaGluGlnPheLeuArgLysThrGlnIleProGluAsnTrpGluHisAlaLysTyrLysTrpTyrLeuLysArgThrGlyAspArgGlyLeuIleLeuLeuAspAspValIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578894" }, { "coordinates": [ { "allele": "T", "end": 3661, "referenceAllele": "A", "start": 3660 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_000109.4:c.3538A>T" ], "proteinEffect": { "hgvs": "NP_000100.3:p.Lys1180Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS674704" }, { "coordinates": [ { "allele": "T", "end": 3799, "referenceAllele": "A", "start": 3798 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004006.3:c.3562A>T" ], "proteinEffect": { "hgvs": "NP_003997.2:p.Lys1188Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS696014", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357033.9:c.3562A>T" }, "RefSeq": { "hgvs": "NM_004006.3:c.3562A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000354923.3:p.Lys1188Ter" }, "RefSeq": { "hgvs": "NP_003997.2:p.Lys1188Ter" } } } } ], "type": "nucleotide" }