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], "proteinEffect": { "hgvs": "XP_006724537.1:p.Trp2670Ter", "hgvsWellDefined": 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], "proteinEffect": { "hgvs": "XP_006724537.1:p.Trp2670Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS556096" }, { "coordinates": [ { "allele": "A", "end": 8207, "referenceAllele": "G", "start": 8206 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_017029328.1:c.8010G>A" ], "proteinEffect": { "hgvs": "XP_016884817.1:p.Trp2670Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS578892" }, { "coordinates": [ { "allele": "A", "end": 2783, "referenceAllele": "G", "start": 2782 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_017029331.1:c.2184G>A" ], "proteinEffect": { "hgvs": "XP_016884820.1:p.Trp728Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS578895" }, { "coordinates": [ { "allele": "A", "end": 8109, "referenceAllele": "G", "start": 8108 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_000109.4:c.7986G>A" ], "proteinEffect": { "hgvs": "NP_000100.3:p.Trp2662Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS674704" }, { "coordinates": [ { "allele": "A", "end": 8247, "referenceAllele": "G", "start": 8246 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004006.3:c.8010G>A" ], "proteinEffect": { "hgvs": "NP_003997.2:p.Trp2670Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS696014", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357033.9:c.8010G>A" }, "RefSeq": { "hgvs": "NM_004006.3:c.8010G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000354923.3:p.Trp2670Ter" }, "RefSeq": { "hgvs": "NP_003997.2:p.Trp2670Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 4006, "referenceAllele": "G", "start": 4005 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004011.4:c.3987G>A" ], "proteinEffect": { "hgvs": "NP_004002.3:p.Trp1329Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS696015" }, { "coordinates": [ { "allele": "A", "end": 4149, "referenceAllele": "G", "start": 4148 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004012.4:c.3978G>A" ], "proteinEffect": { "hgvs": "NP_004003.2:p.Trp1326Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS696016" }, { "coordinates": [ { "allele": "A", "end": 1671, "referenceAllele": "G", "start": 1670 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004021.3:c.630G>A" ], "proteinEffect": { "hgvs": "NP_004012.2:p.Trp210Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS696022" }, { "@id": "http://reg.genome.network/allele/PA2829511783", "coordinates": [ { "allele": "A", "end": 1671, "referenceAllele": "G", "start": 1670 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004023.3:c.630G>A" ], "proteinEffect": { "hgvs": "NP_004014.2:p.Trp210Ter", "hgvsWellDefined": "NP_004014.2:p.Trp210_Glu1133delinsArgSerIleHisLysArgValSerGluArgGluAlaAlaLeuGluGluThrHisArgLeuLeuGlnGlnPheProLeuAspLeuGluLysPheLeuAlaTrpLeuThrGluAlaGluThrThrAlaAsnValLeuGlnAspAlaThrArgLysGluArgLeuLeuGluAspSerLysGlyValLysGluLeuMetLysGlnTrpGlnAspLeuGlnGlyGluIleGluAlaHisThrAspValTyrHisAsnLeuAspGluAsnSerGlnLysIleLeuArgSerLeuGluGlySerAspAspAlaValLeuLeuGlnArgArgLeuAspAsnMetAsnPheLysTrpSerGluLeuArgLysLysSerLeuAsnIleArgSerHisLeuGluAlaSerSerAspGlnTrpLysArgLeuHisLeuSerLeuGlnGluLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuArgGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696023" }, { "coordinates": [ { "allele": "A", "end": 1671, "referenceAllele": "G", "start": 1670 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004013.3:c.630G>A" ], "proteinEffect": { "hgvs": "NP_004004.2:p.Trp210Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS727462" }, { "@id": "http://reg.genome.network/allele/PA2829508352", "coordinates": [ { "allele": "A", "end": 1671, "referenceAllele": "G", "start": 1670 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004020.4:c.630G>A" ], "proteinEffect": { "hgvs": "NP_004011.3:p.Trp210Ter", "hgvsWellDefined": "NP_004011.3:p.Trp210_Met1115delinsArgSerIleHisLysArgValSerGluArgGluAlaAlaLeuGluGluThrHisArgLeuLeuGlnGlnPheProLeuAspLeuGluLysPheLeuAlaTrpLeuThrGluAlaGluThrThrAlaAsnValLeuGlnAspAlaThrArgLysGluArgLeuLeuGluAspSerLysGlyValLysGluLeuMetLysGlnTrpGlnAspLeuGlnGlyGluIleGluAlaHisThrAspValTyrHisAsnLeuAspGluAsnSerGlnLysIleLeuArgSerLeuGluGlySerAspAspAlaValLeuLeuGlnArgArgLeuAspAsnMetAsnPheLysTrpSerGluLeuArgLysLysSerLeuAsnIleArgSerHisLeuGluAlaSerSerAspGlnTrpLysArgLeuHisLeuSerLeuGlnGluLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuArgGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727464" }, { "coordinates": [ { "allele": "A", "end": 1671, "referenceAllele": "G", "start": 1670 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004022.3:c.630G>A" ], "proteinEffect": { "hgvs": "NP_004013.2:p.Trp210Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS727465" } ], "type": "nucleotide" }