{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16616658", "communityStandardTitle": [ "NM_004006.3(DMD):c.8914C>T (p.Gln2972Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=404533[alleleid]", "alleleId": 404533, "preferredName": "NM_004006.3(DMD):c.8914C>T (p.Gln2972Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/409903", "RCV": [ "RCV000470018", "RCV001782947" ], "variationId": 409903 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.31496246G>A?assembly=hg19", "id": "chrX:g.31496246G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.31478129G>A?assembly=hg38", "id": "chrX:g.31478129G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1060502633", "rs": 1060502633 } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 31478129, "referenceAllele": "G", "start": 31478128 } ], "hgvs": [ "NC_000023.11:g.31478129G>A", "CM000685.2:g.31478129G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 31496246, "referenceAllele": "G", "start": 31496245 } ], "hgvs": [ "NC_000023.10:g.31496246G>A", "CM000685.1:g.31496246G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 31406167, "referenceAllele": "G", "start": 31406166 } ], "hgvs": [ "NC_000023.9:g.31406167G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "T", "end": 1866481, "referenceAllele": "C", "start": 1866480 } ], "hgvs": [ "NG_012232.1:g.1866481C>T", "LRG_199:g.1866481C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002304" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 3760, "referenceAllele": "C", "start": 3759 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000358062.7:c.3760C>T" ], "proteinEffect": { "hgvs": "ENSP00000350765.3:p.Gln1254Ter", "hgvsWellDefined": "ENSP00000350765.3:p.Gln1254_Glu1972delinsAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS904459" }, { "coordinates": [ { "allele": "T", "end": 2575, "referenceAllele": "C", "start": 2574 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000682238.1:c.1534C>T" ], "proteinEffect": { "hgvs": "ENSP00000508124.1:p.Gln512Ter", "hgvsWellDefined": "ENSP00000508124.1:p.Gln512_Glu1133delinsAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS827233" }, { "coordinates": [ { "allele": "T", "end": 2379, "referenceAllele": "C", "start": 2378 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000683450.1:n.2379C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS828427" }, { "coordinates": [ { "allele": "T", "end": 2406, "referenceAllele": "C", "start": 2405 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000683957.1:n.2406C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS828920" }, { "coordinates": [ { "allele": "T", "end": 2575, "referenceAllele": "C", "start": 2574 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000684130.1:c.1534C>T" ], "proteinEffect": { "hgvs": "ENSP00000508037.1:p.Gln512Ter", "hgvsWellDefined": "ENSP00000508037.1:p.Gln512_Met1212delinsAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829088" }, { "coordinates": [ { "allele": "T", "end": 971, "referenceAllele": "C", "start": 970 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000343523.7:c.769C>T" ], "proteinEffect": { "hgvs": "ENSP00000340057.4:p.Gln257Ter", "hgvsWellDefined": "ENSP00000340057.4:p.Gln257_Met970delinsAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748148" }, { "coordinates": [ { "allele": "T", "end": 9151, "referenceAllele": "C", "start": 9150 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000357033.9:c.8914C>T" ], "proteinEffect": { "hgvs": "ENSP00000354923.3:p.Gln2972Ter", "hgvsWellDefined": "ENSP00000354923.3:p.Gln2972_Met3685delinsAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748881", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357033.9:c.8914C>T" }, "RefSeq": { "hgvs": "NM_004006.3:c.8914C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000354923.3:p.Gln2972Ter" }, "RefSeq": { "hgvs": "NP_003997.2:p.Gln2972Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 5062, "referenceAllele": "C", "start": 5061 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000619831.5:c.4882C>T" ], "proteinEffect": { "hgvs": "ENSP00000479270.2:p.Gln1628Ter", "hgvsWellDefined": "ENSP00000479270.2:p.Gln1628_Met2341delinsAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762247" }, { "coordinates": [ { "allele": "T", "end": 2575, "referenceAllele": "C", "start": 2574 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000620040.5:c.1534C>T" ], "proteinEffect": { "hgvs": "ENSP00000478150.2:p.Gln512Ter", "hgvsWellDefined": "ENSP00000478150.2:p.Gln512_Glu1154delinsAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLysLysTyrProTrpLysAlaAsnGluArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762258" }, { "coordinates": [ { "allele": "T", "end": 2575, "referenceAllele": "C", "start": 2574 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000680961.1:c.1534C>T" ], "proteinEffect": { "hgvs": "ENSP00000506386.1:p.Gln512Ter", "hgvsWellDefined": "ENSP00000506386.1:p.Gln512_Leu816delinsAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheValGlnGluSerLysAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780575" }, { "coordinates": [ { "allele": "T", "end": 2575, "referenceAllele": "C", "start": 2574 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000681646.1:n.2575C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS781252" }, { "coordinates": [ { "allele": "T", "end": 788, "referenceAllele": "C", "start": 787 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000343523.6:c.727C>T" ], "proteinEffect": { "hgvs": "ENSP00000340057.3:p.Gln243Ter", "hgvsWellDefined": "ENSP00000340057.3:p.Gln243_Met956delinsAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261779" }, { "coordinates": [ { "allele": "T", "end": 9121, "referenceAllele": "C", "start": 9120 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000357033.8:c.8914C>T" ], "proteinEffect": { "hgvs": "ENSP00000354923.3:p.Gln2972Ter", "hgvsWellDefined": "ENSP00000354923.3:p.Gln2972_Met3685delinsAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263955" }, { "coordinates": [ { "allele": "T", "end": 2002, "referenceAllele": "C", "start": 2001 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000358062.6:c.2002C>T" ], "proteinEffect": { "hgvs": "ENSP00000350765.2:p.Gln668Ter", "hgvsWellDefined": "ENSP00000350765.2:p.Gln668_Glu1386delinsAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS264318" }, { "coordinates": [ { "allele": "T", "end": 2575, "referenceAllele": "C", "start": 2574 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000359836.5:c.1534C>T" ], "proteinEffect": { "hgvs": "ENSP00000352894.1:p.Gln512Ter", "hgvsWellDefined": "ENSP00000352894.1:p.Gln512_Glu1230delinsAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS264919" }, { "coordinates": [ { "allele": "T", "end": 9097, "referenceAllele": "C", "start": 9096 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000378677.6:c.8902C>T" ], "proteinEffect": { "hgvs": "ENSP00000367948.2:p.Gln2968Ter", "hgvsWellDefined": "ENSP00000367948.2:p.Gln2968_Met3681delinsAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS272146" }, { "coordinates": [ { "allele": "T", "end": 2575, "referenceAllele": "C", "start": 2574 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000378707.7:c.1534C>T" ], "proteinEffect": { "hgvs": "ENSP00000367979.3:p.Gln512Ter", "hgvsWellDefined": "ENSP00000367979.3:p.Gln512_Met1225delinsAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS272163" }, { "coordinates": [ { "allele": "T", "end": 2575, "referenceAllele": "C", "start": 2574 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000474231.5:c.1534C>T" ], "proteinEffect": { "hgvs": "ENSP00000417123.1:p.Gln512Ter", "hgvsWellDefined": "ENSP00000417123.1:p.Gln512_Glu1243delinsAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS315787" }, { "coordinates": [ { "allele": "T", "end": 2575, "referenceAllele": "C", "start": 2574 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000541735.5:c.1534C>T" ], "proteinEffect": { "hgvs": "ENSP00000444119.1:p.Gln512Ter", "hgvsWellDefined": "ENSP00000444119.1:p.Gln512_Met1115delinsAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS363087" }, { "coordinates": [ { "allele": "T", "end": 8899, "referenceAllele": "C", "start": 8898 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000619831.4:c.8899C>T" ], "proteinEffect": { "hgvs": "ENSP00000479270.1:p.Gln2967Ter", "hgvsWellDefined": "ENSP00000479270.1:p.Gln2967_Met3680delinsAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS404545" }, { "coordinates": [ { "allele": "T", "end": 8911, "referenceAllele": "C", "start": 8910 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000620040.4:c.8911C>T" ], "proteinEffect": { "hgvs": "ENSP00000478150.1:p.Gln2971Ter", "hgvsWellDefined": "ENSP00000478150.1:p.Gln2971_Met3684delinsAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS404642" }, { "coordinates": [ { "allele": "T", "end": 9234, "referenceAllele": "C", "start": 9233 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_000109.3:c.8890C>T" ], "proteinEffect": { "hgvs": "NP_000100.2:p.Gln2964Ter", "hgvsWellDefined": "NP_000100.2:p.Gln2964_Met3677delinsAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006172" }, { "@id": "http://reg.genome.network/allele/PA645483914", "coordinates": [ { "allele": "T", "end": 9158, "referenceAllele": "C", "start": 9157 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004006.2:c.8914C>T", "LRG_199t1:c.8914C>T" ], "proteinEffect": { "hgvs": "NP_003997.1:p.Gln2972Ter", "hgvsWellDefined": "NP_003997.1:p.Gln2972_Met3685delinsAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029203" }, { "@id": "http://reg.genome.network/allele/PA2829493620", "coordinates": [ { "allele": "T", "end": 9165, "referenceAllele": "C", "start": 9164 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004009.3:c.8902C>T" ], "proteinEffect": { "hgvs": "NP_004000.1:p.Gln2968Ter", "hgvsWellDefined": "NP_004000.1:p.Gln2968_Met3681delinsAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029204" }, { "@id": "http://reg.genome.network/allele/PA2829498784", "coordinates": [ { "allele": "T", "end": 9248, "referenceAllele": "C", "start": 9247 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004010.3:c.8545C>T" ], "proteinEffect": { "hgvs": "NP_004001.1:p.Gln2849Ter", "hgvsWellDefined": "NP_004001.1:p.Gln2849_Met3562delinsAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029205" }, { "coordinates": [ { "allele": "T", "end": 4936, "referenceAllele": "C", "start": 4935 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004011.3:c.4891C>T" ], "proteinEffect": { "hgvs": "NP_004002.2:p.Gln1631Ter", "hgvsWellDefined": "NP_004002.2:p.Gln1631_Met2344delinsAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029206" }, { "coordinates": [ { "allele": "T", "end": 5079, "referenceAllele": "C", "start": 5078 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004012.3:c.4882C>T" ], "proteinEffect": { "hgvs": "NP_004003.1:p.Gln1628Ter", "hgvsWellDefined": "NP_004003.1:p.Gln1628_Met2341delinsAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029207" }, { "coordinates": [ { "allele": "T", "end": 2575, "referenceAllele": "C", "start": 2574 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004013.2:c.1534C>T" ], "proteinEffect": { "hgvs": "NP_004004.1:p.Gln512Ter", "hgvsWellDefined": "NP_004004.1:p.Gln512_Met1225delinsAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029208" }, { "coordinates": [ { "allele": "T", "end": 788, "referenceAllele": "C", "start": 787 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004014.2:c.727C>T" ], "proteinEffect": { "hgvs": "NP_004005.1:p.Gln243Ter", "hgvsWellDefined": "NP_004005.1:p.Gln243_Met956delinsAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029209" }, { "coordinates": [ { "allele": "T", "end": 2575, "referenceAllele": "C", "start": 2574 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004020.3:c.1534C>T" ], "proteinEffect": { "hgvs": "NP_004011.2:p.Gln512Ter", "hgvsWellDefined": "NP_004011.2:p.Gln512_Met1115delinsAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029215" }, { "coordinates": [ { "allele": "T", "end": 2575, "referenceAllele": "C", "start": 2574 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004021.2:c.1534C>T" ], "proteinEffect": { "hgvs": "NP_004012.1:p.Gln512Ter", "hgvsWellDefined": "NP_004012.1:p.Gln512_Glu1243delinsAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029216" }, { "coordinates": [ { "allele": "T", "end": 2575, "referenceAllele": "C", "start": 2574 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004022.2:c.1534C>T" ], "proteinEffect": { "hgvs": "NP_004013.1:p.Gln512Ter", "hgvsWellDefined": "NP_004013.1:p.Gln512_Glu1230delinsAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029217" }, { "coordinates": [ { "allele": "T", "end": 2575, "referenceAllele": "C", "start": 2574 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004023.2:c.1534C>T" ], "proteinEffect": { "hgvs": "NP_004014.1:p.Gln512Ter", "hgvsWellDefined": "NP_004014.1:p.Gln512_Glu1133delinsAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029218" }, { "coordinates": [ { "allele": "T", "end": 9111, "referenceAllele": "C", "start": 9110 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724468.2:c.8914C>T" ], "proteinEffect": { "hgvs": "XP_006724531.1:p.Gln2972Ter", "hgvsWellDefined": "XP_006724531.1:p.Gln2972_Glu3703delinsAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075527" }, { "coordinates": [ { "allele": "T", "end": 8993, "referenceAllele": "C", "start": 8992 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724469.2:c.8890C>T" ], "proteinEffect": { "hgvs": "XP_006724532.1:p.Gln2964Ter", "hgvsWellDefined": "XP_006724532.1:p.Gln2964_Glu3695delinsAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075528" }, { "coordinates": [ { "allele": "T", "end": 9111, "referenceAllele": "C", "start": 9110 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724470.2:c.8914C>T" ], "proteinEffect": { "hgvs": "XP_006724533.1:p.Gln2972Ter", "hgvsWellDefined": "XP_006724533.1:p.Gln2972_Glu3690delinsAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075529" }, { "coordinates": [ { "allele": "T", "end": 9111, "referenceAllele": "C", "start": 9110 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724471.2:c.8914C>T" ], "proteinEffect": { "hgvs": "XP_006724534.1:p.Gln2972Ter", "hgvsWellDefined": "XP_006724534.1:p.Gln2972_Glu3668delinsAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075530" }, { "coordinates": [ { "allele": "T", "end": 8982, "referenceAllele": "C", "start": 8981 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724472.2:c.8785C>T" ], "proteinEffect": { "hgvs": "XP_006724535.1:p.Gln2929Ter", "hgvsWellDefined": "XP_006724535.1:p.Gln2929_Glu3660delinsAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075531" }, { "coordinates": [ { "allele": "T", "end": 8973, "referenceAllele": "C", "start": 8972 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724473.2:c.8776C>T" ], "proteinEffect": { "hgvs": "XP_006724536.1:p.Gln2926Ter", "hgvsWellDefined": "XP_006724536.1:p.Gln2926_Glu3657delinsAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075532" }, { "coordinates": [ { "allele": "T", "end": 9111, "referenceAllele": "C", "start": 9110 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724474.2:c.8914C>T" ], "proteinEffect": { "hgvs": "XP_006724537.1:p.Gln2972Ter", "hgvsWellDefined": "XP_006724537.1:p.Gln2972_Glu3593delinsAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075533" }, { "coordinates": [ { "allele": "T", "end": 9111, "referenceAllele": "C", "start": 9110 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724475.2:c.8914C>T" ], "proteinEffect": { "hgvs": "XP_006724538.1:p.Gln2972Ter", "hgvsWellDefined": "XP_006724538.1:p.Gln2972_Met3575delinsAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075534" }, { "coordinates": [ { "allele": "T", "end": 8988, "referenceAllele": "C", "start": 8987 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_011545467.1:c.8791C>T" ], "proteinEffect": { "hgvs": "XP_011543769.1:p.Gln2931Ter", "hgvsWellDefined": "XP_011543769.1:p.Gln2931_Glu3662delinsAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS112367" }, { "coordinates": [ { "allele": "T", "end": 9111, "referenceAllele": "C", "start": 9110 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_011545468.1:c.8914C>T" ], "proteinEffect": { "hgvs": "XP_011543770.1:p.Gln2972Ter", "hgvsWellDefined": "XP_011543770.1:p.Gln2972_Leu3295delinsAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheSerGlnSerLeuGluThrThrAlaLeuPheSerValProValIleLeuProPheProGluLeuAspPheLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS112368" }, { "coordinates": [ { "allele": "T", "end": 9085, "referenceAllele": "C", "start": 9084 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724469.3:c.8890C>T" ], "proteinEffect": { "hgvs": "XP_006724532.1:p.Gln2964Ter", "hgvsWellDefined": "XP_006724532.1:p.Gln2964_Glu3695delinsAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540982" }, { "coordinates": [ { "allele": "T", "end": 9111, "referenceAllele": "C", "start": 9110 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724470.3:c.8914C>T" ], "proteinEffect": { "hgvs": "XP_006724533.1:p.Gln2972Ter", "hgvsWellDefined": "XP_006724533.1:p.Gln2972_Glu3690delinsAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540983" }, { "coordinates": [ { "allele": "T", "end": 9111, "referenceAllele": "C", "start": 9110 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724474.3:c.8914C>T" ], "proteinEffect": { "hgvs": "XP_006724537.1:p.Gln2972Ter", "hgvsWellDefined": "XP_006724537.1:p.Gln2972_Glu3593delinsAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540984" }, { "coordinates": [ { "allele": "T", "end": 9111, "referenceAllele": "C", "start": 9110 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_011545468.2:c.8914C>T" ], "proteinEffect": { "hgvs": "XP_011543770.1:p.Gln2972Ter", "hgvsWellDefined": "XP_011543770.1:p.Gln2972_Leu3295delinsAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheSerGlnSerLeuGluThrThrAlaLeuPheSerValProValIleLeuProPheProGluLeuAspPheLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS556096" }, { "coordinates": [ { "allele": "T", "end": 9111, "referenceAllele": "C", "start": 9110 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_017029328.1:c.8914C>T" ], "proteinEffect": { "hgvs": "XP_016884817.1:p.Gln2972Ter", "hgvsWellDefined": "XP_016884817.1:p.Gln2972_Met3672delinsAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578892" }, { "coordinates": [ { "allele": "T", "end": 3687, "referenceAllele": "C", "start": 3686 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_017029331.1:c.3088C>T" ], "proteinEffect": { "hgvs": "XP_016884820.1:p.Gln1030Ter", "hgvsWellDefined": "XP_016884820.1:p.Gln1030_Glu1761delinsAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578895" }, { "@id": "http://reg.genome.network/allele/PA2825074535", "coordinates": [ { "allele": "T", "end": 9013, "referenceAllele": "C", "start": 9012 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_000109.4:c.8890C>T" ], "proteinEffect": { "hgvs": "NP_000100.3:p.Gln2964Ter", "hgvsWellDefined": "NP_000100.3:p.Gln2964_Met3677delinsAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674704" }, { "@id": "http://reg.genome.network/allele/PA2829487051", "coordinates": [ { "allele": "T", "end": 9151, "referenceAllele": "C", "start": 9150 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004006.3:c.8914C>T" ], "proteinEffect": { "hgvs": "NP_003997.2:p.Gln2972Ter", "hgvsWellDefined": "NP_003997.2:p.Gln2972_Met3685delinsAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696014", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357033.9:c.8914C>T" }, "RefSeq": { "hgvs": "NM_004006.3:c.8914C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000354923.3:p.Gln2972Ter" }, "RefSeq": { "hgvs": "NP_003997.2:p.Gln2972Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2829500527", "coordinates": [ { "allele": "T", "end": 4910, "referenceAllele": "C", "start": 4909 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004011.4:c.4891C>T" ], "proteinEffect": { "hgvs": "NP_004002.3:p.Gln1631Ter", "hgvsWellDefined": "NP_004002.3:p.Gln1631_Met2344delinsAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696015" }, { "@id": "http://reg.genome.network/allele/PA2829503117", "coordinates": [ { "allele": "T", "end": 5053, "referenceAllele": "C", "start": 5052 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004012.4:c.4882C>T" ], "proteinEffect": { "hgvs": "NP_004003.2:p.Gln1628Ter", "hgvsWellDefined": "NP_004003.2:p.Gln1628_Met2341delinsAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696016" }, { "@id": "http://reg.genome.network/allele/PA2829509832", "coordinates": [ { "allele": "T", "end": 2575, "referenceAllele": "C", "start": 2574 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004021.3:c.1534C>T" ], "proteinEffect": { "hgvs": "NP_004012.2:p.Gln512Ter", "hgvsWellDefined": "NP_004012.2:p.Gln512_Glu1243delinsAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696022" }, { "@id": "http://reg.genome.network/allele/PA916002686", "coordinates": [ { "allele": "T", "end": 2575, "referenceAllele": "C", "start": 2574 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004023.3:c.1534C>T" ], "proteinEffect": { "hgvs": "NP_004014.2:p.Gln512Ter", "hgvsWellDefined": "NP_004014.2:p.Gln512_Glu1133delinsAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696023" }, { "@id": "http://reg.genome.network/allele/PA2829504327", "coordinates": [ { "allele": "T", "end": 2575, "referenceAllele": "C", "start": 2574 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004013.3:c.1534C>T" ], "proteinEffect": { "hgvs": "NP_004004.2:p.Gln512Ter", "hgvsWellDefined": "NP_004004.2:p.Gln512_Met1225delinsAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727462" }, { "@id": "http://reg.genome.network/allele/PA2829505189", "coordinates": [ { "allele": "T", "end": 786, "referenceAllele": "C", "start": 785 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004014.3:c.727C>T" ], "proteinEffect": { "hgvs": "NP_004005.2:p.Gln243Ter", "hgvsWellDefined": "NP_004005.2:p.Gln243_Met956delinsAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727463" }, { "@id": "http://reg.genome.network/allele/PA2829508702", "coordinates": [ { "allele": "T", "end": 2575, "referenceAllele": "C", "start": 2574 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004020.4:c.1534C>T" ], "proteinEffect": { "hgvs": "NP_004011.3:p.Gln512Ter", "hgvsWellDefined": "NP_004011.3:p.Gln512_Met1115delinsAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727464" }, { "@id": "http://reg.genome.network/allele/PA2829511013", "coordinates": [ { "allele": "T", "end": 2575, "referenceAllele": "C", "start": 2574 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004022.3:c.1534C>T" ], "proteinEffect": { "hgvs": "NP_004013.2:p.Gln512Ter", "hgvsWellDefined": "NP_004013.2:p.Gln512_Glu1230delinsAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727465" } ], "type": "nucleotide" }