{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA412655571", "communityStandardTitle": [ "NM_004006.3(DMD):c.8446G>T (p.Glu2816Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1677729[alleleid]", "alleleId": 1677729, "preferredName": "NM_004006.3(DMD):c.8446G>T (p.Glu2816Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1685715", "RCV": [ "RCV002249882" ], "variationId": 1685715 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.31515006C>A?assembly=hg19", "id": "chrX:g.31515006C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.31496889C>A?assembly=hg38", "id": "chrX:g.31496889C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2147075923", "rs": 2147075923 } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 31496889, "referenceAllele": "C", "start": 31496888 } ], "hgvs": [ "NC_000023.11:g.31496889C>A", "CM000685.2:g.31496889C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 31515006, "referenceAllele": "C", "start": 31515005 } ], "hgvs": [ "NC_000023.10:g.31515006C>A", "CM000685.1:g.31515006C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 31424927, "referenceAllele": "C", "start": 31424926 } ], "hgvs": [ "NC_000023.9:g.31424927C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "T", "end": 1847721, "referenceAllele": "G", "start": 1847720 } ], "hgvs": [ "NG_012232.1:g.1847721G>T", "LRG_199:g.1847721G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002304" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 3292, "referenceAllele": "G", "start": 3291 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000358062.7:c.3292G>T" ], "proteinEffect": { "hgvs": "ENSP00000350765.3:p.Glu1098Ter", "hgvsWellDefined": "ENSP00000350765.3:p.Glu1098_Glu1972delinsLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuArgGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS904459" }, { "coordinates": [ { "allele": "T", "end": 2107, "referenceAllele": "G", "start": 2106 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000682238.1:c.1066G>T" ], "proteinEffect": { "hgvs": "ENSP00000508124.1:p.Glu356Ter", "hgvsWellDefined": "ENSP00000508124.1:p.Glu356_Glu1133delinsLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuArgGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS827233" }, { "coordinates": [ { "allele": "T", "end": 1911, "referenceAllele": "G", "start": 1910 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000683450.1:n.1911G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS828427" }, { "coordinates": [ { "allele": "T", "end": 1938, "referenceAllele": "G", "start": 1937 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000683957.1:n.1938G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS828920" }, { "coordinates": [ { "allele": "T", "end": 2107, "referenceAllele": "G", "start": 2106 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000684130.1:c.1066G>T" ], "proteinEffect": { "hgvs": "ENSP00000508037.1:p.Glu356Ter", "hgvsWellDefined": "ENSP00000508037.1:p.Glu356_Met1212delinsLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuArgGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829088" }, { "coordinates": [ { "allele": "T", "end": 503, "referenceAllele": "G", "start": 502 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000343523.7:c.301G>T" ], "proteinEffect": { "hgvs": "ENSP00000340057.4:p.Glu101Ter", "hgvsWellDefined": "ENSP00000340057.4:p.Glu101_Met970delinsLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuArgGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748148" }, { "coordinates": [ { "allele": "T", "end": 8683, "referenceAllele": "G", "start": 8682 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000357033.9:c.8446G>T" ], "proteinEffect": { "hgvs": "ENSP00000354923.3:p.Glu2816Ter", "hgvsWellDefined": "ENSP00000354923.3:p.Glu2816_Met3685delinsLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuArgGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748881", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357033.9:c.8446G>T" }, "RefSeq": { "hgvs": "NM_004006.3:c.8446G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000354923.3:p.Glu2816Ter" }, "RefSeq": { "hgvs": "NP_003997.2:p.Glu2816Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 4594, "referenceAllele": "G", "start": 4593 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000619831.5:c.4414G>T" ], "proteinEffect": { "hgvs": "ENSP00000479270.2:p.Glu1472Ter", "hgvsWellDefined": "ENSP00000479270.2:p.Glu1472_Met2341delinsLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuArgGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762247" }, { "coordinates": [ { "allele": "T", "end": 2107, "referenceAllele": "G", "start": 2106 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000620040.5:c.1066G>T" ], "proteinEffect": { "hgvs": "ENSP00000478150.2:p.Glu356Ter", "hgvsWellDefined": "ENSP00000478150.2:p.Glu356_Glu1154delinsLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuArgGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLysLysTyrProTrpLysAlaAsnGluArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762258" }, { "coordinates": [ { "allele": "T", "end": 2107, "referenceAllele": "G", "start": 2106 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000680961.1:c.1066G>T" ], "proteinEffect": { "hgvs": "ENSP00000506386.1:p.Glu356Ter", "hgvsWellDefined": "ENSP00000506386.1:p.Glu356_Leu816delinsLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuArgGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheValGlnGluSerLysAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780575" }, { "coordinates": [ { "allele": "T", "end": 2107, "referenceAllele": "G", "start": 2106 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000681646.1:n.2107G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS781252" }, { "coordinates": [ { "allele": "T", "end": 320, "referenceAllele": "G", "start": 319 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000343523.6:c.259G>T" ], "proteinEffect": { "hgvs": "ENSP00000340057.3:p.Glu87Ter", "hgvsWellDefined": "ENSP00000340057.3:p.Glu87_Met956delinsLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuArgGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261779" }, { "coordinates": [ { "allele": "T", "end": 8653, "referenceAllele": "G", "start": 8652 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000357033.8:c.8446G>T" ], "proteinEffect": { "hgvs": "ENSP00000354923.3:p.Glu2816Ter", "hgvsWellDefined": "ENSP00000354923.3:p.Glu2816_Met3685delinsLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuArgGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263955" }, { "coordinates": [ { "allele": "T", "end": 1534, "referenceAllele": "G", "start": 1533 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000358062.6:c.1534G>T" ], "proteinEffect": { "hgvs": "ENSP00000350765.2:p.Glu512Ter", "hgvsWellDefined": "ENSP00000350765.2:p.Glu512_Glu1386delinsLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuArgGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS264318" }, { "coordinates": [ { "allele": "T", "end": 2107, "referenceAllele": "G", "start": 2106 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000359836.5:c.1066G>T" ], "proteinEffect": { "hgvs": "ENSP00000352894.1:p.Glu356Ter", "hgvsWellDefined": "ENSP00000352894.1:p.Glu356_Glu1230delinsLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuArgGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS264919" }, { "coordinates": [ { "allele": "T", "end": 8629, "referenceAllele": "G", "start": 8628 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000378677.6:c.8434G>T" ], "proteinEffect": { "hgvs": "ENSP00000367948.2:p.Glu2812Ter", "hgvsWellDefined": "ENSP00000367948.2:p.Glu2812_Met3681delinsLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuArgGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS272146" }, { "coordinates": [ { "allele": "T", "end": 2107, "referenceAllele": "G", "start": 2106 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000378707.7:c.1066G>T" ], "proteinEffect": { "hgvs": "ENSP00000367979.3:p.Glu356Ter", "hgvsWellDefined": "ENSP00000367979.3:p.Glu356_Met1225delinsLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuArgGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS272163" }, { "coordinates": [ { "allele": "T", "end": 503, "referenceAllele": "G", "start": 502 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000445312.1:n.503G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS298225" }, { "coordinates": [ { "allele": "T", "end": 2107, "referenceAllele": "G", "start": 2106 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000474231.5:c.1066G>T" ], "proteinEffect": { "hgvs": "ENSP00000417123.1:p.Glu356Ter", "hgvsWellDefined": "ENSP00000417123.1:p.Glu356_Glu1243delinsLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuArgGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS315787" }, { "coordinates": [ { "allele": "T", "end": 2107, "referenceAllele": "G", "start": 2106 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000541735.5:c.1066G>T" ], "proteinEffect": { "hgvs": "ENSP00000444119.1:p.Glu356Ter", "hgvsWellDefined": "ENSP00000444119.1:p.Glu356_Met1115delinsLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuArgGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS363087" }, { "coordinates": [ { "allele": "T", "end": 8431, "referenceAllele": "G", "start": 8430 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000619831.4:c.8431G>T" ], "proteinEffect": { "hgvs": "ENSP00000479270.1:p.Glu2811Ter", "hgvsWellDefined": "ENSP00000479270.1:p.Glu2811_Met3680delinsLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuArgGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS404545" }, { "coordinates": [ { "allele": "T", "end": 8443, "referenceAllele": "G", "start": 8442 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000620040.4:c.8443G>T" ], "proteinEffect": { "hgvs": "ENSP00000478150.1:p.Glu2815Ter", "hgvsWellDefined": "ENSP00000478150.1:p.Glu2815_Met3684delinsLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuArgGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS404642" }, { "coordinates": [ { "allele": "T", "end": 8766, "referenceAllele": "G", "start": 8765 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_000109.3:c.8422G>T" ], "proteinEffect": { "hgvs": "NP_000100.2:p.Glu2808Ter", "hgvsWellDefined": "NP_000100.2:p.Glu2808_Met3677delinsLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuGlnGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006172" }, { "coordinates": [ { "allele": "T", "end": 8690, "referenceAllele": "G", "start": 8689 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004006.2:c.8446G>T", "LRG_199t1:c.8446G>T" ], "proteinEffect": { "hgvs": "NP_003997.1:p.Glu2816Ter", "hgvsWellDefined": "NP_003997.1:p.Glu2816_Met3685delinsLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuGlnGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029203" }, { "@id": "http://reg.genome.network/allele/PA2829493382", "coordinates": [ { "allele": "T", "end": 8697, "referenceAllele": "G", "start": 8696 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004009.3:c.8434G>T" ], "proteinEffect": { "hgvs": "NP_004000.1:p.Glu2812Ter", "hgvsWellDefined": "NP_004000.1:p.Glu2812_Met3681delinsLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuGlnGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029204" }, { "@id": "http://reg.genome.network/allele/PA2829498580", "coordinates": [ { "allele": "T", "end": 8780, "referenceAllele": "G", "start": 8779 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004010.3:c.8077G>T" ], "proteinEffect": { "hgvs": "NP_004001.1:p.Glu2693Ter", "hgvsWellDefined": "NP_004001.1:p.Glu2693_Met3562delinsLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuGlnGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029205" }, { "coordinates": [ { "allele": "T", "end": 4468, "referenceAllele": "G", "start": 4467 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004011.3:c.4423G>T" ], "proteinEffect": { "hgvs": "NP_004002.2:p.Glu1475Ter", "hgvsWellDefined": "NP_004002.2:p.Glu1475_Met2344delinsLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuGlnGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029206" }, { "coordinates": [ { "allele": "T", "end": 4611, "referenceAllele": "G", "start": 4610 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004012.3:c.4414G>T" ], "proteinEffect": { "hgvs": "NP_004003.1:p.Glu1472Ter", "hgvsWellDefined": "NP_004003.1:p.Glu1472_Met2341delinsLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuGlnGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029207" }, { "coordinates": [ { "allele": "T", "end": 2107, "referenceAllele": "G", "start": 2106 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004013.2:c.1066G>T" ], "proteinEffect": { "hgvs": "NP_004004.1:p.Glu356Ter", "hgvsWellDefined": "NP_004004.1:p.Glu356_Met1225delinsLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuGlnGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029208" }, { "coordinates": [ { "allele": "T", "end": 320, "referenceAllele": "G", "start": 319 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004014.2:c.259G>T" ], "proteinEffect": { "hgvs": "NP_004005.1:p.Glu87Ter", "hgvsWellDefined": "NP_004005.1:p.Glu87_Met956delinsLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuGlnGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029209" }, { "coordinates": [ { "allele": "T", "end": 2107, "referenceAllele": "G", "start": 2106 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004020.3:c.1066G>T" ], "proteinEffect": { "hgvs": "NP_004011.2:p.Glu356Ter", "hgvsWellDefined": "NP_004011.2:p.Glu356_Met1115delinsLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuGlnGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029215" }, { "coordinates": [ { "allele": "T", "end": 2107, "referenceAllele": "G", "start": 2106 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004021.2:c.1066G>T" ], "proteinEffect": { "hgvs": "NP_004012.1:p.Glu356Ter", "hgvsWellDefined": "NP_004012.1:p.Glu356_Glu1243delinsLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuGlnGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029216" }, { "coordinates": [ { "allele": "T", "end": 2107, "referenceAllele": "G", "start": 2106 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004022.2:c.1066G>T" ], "proteinEffect": { "hgvs": "NP_004013.1:p.Glu356Ter", "hgvsWellDefined": "NP_004013.1:p.Glu356_Glu1230delinsLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuGlnGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029217" }, { "coordinates": [ { "allele": "T", "end": 2107, "referenceAllele": "G", "start": 2106 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004023.2:c.1066G>T" ], "proteinEffect": { "hgvs": "NP_004014.1:p.Glu356Ter", "hgvsWellDefined": "NP_004014.1:p.Glu356_Glu1133delinsLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuGlnGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029218" }, { "coordinates": [ { "allele": "T", "end": 8643, "referenceAllele": "G", "start": 8642 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724468.2:c.8446G>T" ], "proteinEffect": { "hgvs": "XP_006724531.1:p.Glu2816Ter", "hgvsWellDefined": "XP_006724531.1:p.Glu2816_Glu3703delinsLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuArgGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075527" }, { "coordinates": [ { "allele": "T", "end": 8525, "referenceAllele": "G", "start": 8524 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724469.2:c.8422G>T" ], "proteinEffect": { "hgvs": "XP_006724532.1:p.Glu2808Ter", "hgvsWellDefined": "XP_006724532.1:p.Glu2808_Glu3695delinsLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuArgGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075528" }, { "coordinates": [ { "allele": "T", "end": 8643, "referenceAllele": "G", "start": 8642 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724470.2:c.8446G>T" ], "proteinEffect": { "hgvs": "XP_006724533.1:p.Glu2816Ter", "hgvsWellDefined": "XP_006724533.1:p.Glu2816_Glu3690delinsLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuArgGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075529" }, { "coordinates": [ { "allele": "T", "end": 8643, "referenceAllele": "G", "start": 8642 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724471.2:c.8446G>T" ], "proteinEffect": { "hgvs": "XP_006724534.1:p.Glu2816Ter", "hgvsWellDefined": "XP_006724534.1:p.Glu2816_Glu3668delinsLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuArgGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075530" }, { "coordinates": [ { "allele": "T", "end": 8514, "referenceAllele": "G", "start": 8513 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724472.2:c.8317G>T" ], "proteinEffect": { "hgvs": "XP_006724535.1:p.Glu2773Ter", "hgvsWellDefined": "XP_006724535.1:p.Glu2773_Glu3660delinsLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuArgGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075531" }, { "coordinates": [ { "allele": "T", "end": 8505, "referenceAllele": "G", "start": 8504 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724473.2:c.8308G>T" ], "proteinEffect": { "hgvs": "XP_006724536.1:p.Glu2770Ter", "hgvsWellDefined": "XP_006724536.1:p.Glu2770_Glu3657delinsLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuArgGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075532" }, { "coordinates": [ { "allele": "T", "end": 8643, "referenceAllele": "G", "start": 8642 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724474.2:c.8446G>T" ], "proteinEffect": { "hgvs": "XP_006724537.1:p.Glu2816Ter", "hgvsWellDefined": "XP_006724537.1:p.Glu2816_Glu3593delinsLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuArgGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075533" }, { "coordinates": [ { "allele": "T", "end": 8643, "referenceAllele": "G", "start": 8642 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724475.2:c.8446G>T" ], "proteinEffect": { "hgvs": "XP_006724538.1:p.Glu2816Ter", "hgvsWellDefined": "XP_006724538.1:p.Glu2816_Met3575delinsLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuArgGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075534" }, { "coordinates": [ { "allele": "T", "end": 8520, "referenceAllele": "G", "start": 8519 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_011545467.1:c.8323G>T" ], "proteinEffect": { "hgvs": "XP_011543769.1:p.Glu2775Ter", "hgvsWellDefined": "XP_011543769.1:p.Glu2775_Glu3662delinsLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuArgGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS112367" }, { "coordinates": [ { "allele": "T", "end": 8643, "referenceAllele": "G", "start": 8642 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_011545468.1:c.8446G>T" ], "proteinEffect": { "hgvs": "XP_011543770.1:p.Glu2816Ter", "hgvsWellDefined": "XP_011543770.1:p.Glu2816_Leu3295delinsLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuArgGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheSerGlnSerLeuGluThrThrAlaLeuPheSerValProValIleLeuProPheProGluLeuAspPheLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS112368" }, { "coordinates": [ { "allele": "T", "end": 8617, "referenceAllele": "G", "start": 8616 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724469.3:c.8422G>T" ], "proteinEffect": { "hgvs": "XP_006724532.1:p.Glu2808Ter", "hgvsWellDefined": "XP_006724532.1:p.Glu2808_Glu3695delinsLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuArgGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540982" }, { "coordinates": [ { "allele": "T", "end": 8643, "referenceAllele": "G", "start": 8642 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724470.3:c.8446G>T" ], "proteinEffect": { "hgvs": "XP_006724533.1:p.Glu2816Ter", "hgvsWellDefined": "XP_006724533.1:p.Glu2816_Glu3690delinsLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuArgGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540983" }, { "coordinates": [ { "allele": "T", "end": 8643, "referenceAllele": "G", "start": 8642 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724474.3:c.8446G>T" ], "proteinEffect": { "hgvs": "XP_006724537.1:p.Glu2816Ter", "hgvsWellDefined": "XP_006724537.1:p.Glu2816_Glu3593delinsLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuArgGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540984" }, { "coordinates": [ { "allele": "T", "end": 8643, "referenceAllele": "G", "start": 8642 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_011545468.2:c.8446G>T" ], "proteinEffect": { "hgvs": "XP_011543770.1:p.Glu2816Ter", "hgvsWellDefined": "XP_011543770.1:p.Glu2816_Leu3295delinsLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuArgGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheSerGlnSerLeuGluThrThrAlaLeuPheSerValProValIleLeuProPheProGluLeuAspPheLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS556096" }, { "coordinates": [ { "allele": "T", "end": 8643, "referenceAllele": "G", "start": 8642 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_017029328.1:c.8446G>T" ], "proteinEffect": { "hgvs": "XP_016884817.1:p.Glu2816Ter", "hgvsWellDefined": "XP_016884817.1:p.Glu2816_Met3672delinsLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuArgGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578892" }, { "coordinates": [ { "allele": "T", "end": 3219, "referenceAllele": "G", "start": 3218 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_017029331.1:c.2620G>T" ], "proteinEffect": { "hgvs": "XP_016884820.1:p.Glu874Ter", "hgvsWellDefined": "XP_016884820.1:p.Glu874_Glu1761delinsLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuArgGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578895" }, { "@id": "http://reg.genome.network/allele/PA2825074331", "coordinates": [ { "allele": "T", "end": 8545, "referenceAllele": "G", "start": 8544 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_000109.4:c.8422G>T" ], "proteinEffect": { "hgvs": "NP_000100.3:p.Glu2808Ter", "hgvsWellDefined": "NP_000100.3:p.Glu2808_Met3677delinsLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuArgGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674704" }, { "@id": "http://reg.genome.network/allele/PA2829486775", "coordinates": [ { "allele": "T", "end": 8683, "referenceAllele": "G", "start": 8682 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004006.3:c.8446G>T" ], "proteinEffect": { "hgvs": "NP_003997.2:p.Glu2816Ter", "hgvsWellDefined": "NP_003997.2:p.Glu2816_Met3685delinsLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuArgGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696014", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357033.9:c.8446G>T" }, "RefSeq": { "hgvs": "NM_004006.3:c.8446G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000354923.3:p.Glu2816Ter" }, "RefSeq": { "hgvs": "NP_003997.2:p.Glu2816Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2829500323", "coordinates": [ { "allele": "T", "end": 4442, "referenceAllele": "G", "start": 4441 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004011.4:c.4423G>T" ], "proteinEffect": { "hgvs": "NP_004002.3:p.Glu1475Ter", "hgvsWellDefined": "NP_004002.3:p.Glu1475_Met2344delinsLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuArgGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696015" }, { "@id": "http://reg.genome.network/allele/PA2829502913", "coordinates": [ { "allele": "T", "end": 4585, "referenceAllele": "G", "start": 4584 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004012.4:c.4414G>T" ], "proteinEffect": { "hgvs": "NP_004003.2:p.Glu1472Ter", "hgvsWellDefined": "NP_004003.2:p.Glu1472_Met2341delinsLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuArgGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696016" }, { "@id": "http://reg.genome.network/allele/PA2829509628", "coordinates": [ { "allele": "T", "end": 2107, "referenceAllele": "G", "start": 2106 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004021.3:c.1066G>T" ], "proteinEffect": { "hgvs": "NP_004012.2:p.Glu356Ter", "hgvsWellDefined": "NP_004012.2:p.Glu356_Glu1243delinsLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuArgGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696022" }, { "@id": "http://reg.genome.network/allele/PA2829511910", "coordinates": [ { "allele": "T", "end": 2107, "referenceAllele": "G", "start": 2106 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004023.3:c.1066G>T" ], "proteinEffect": { "hgvs": "NP_004014.2:p.Glu356Ter", "hgvsWellDefined": "NP_004014.2:p.Glu356_Glu1133delinsLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuArgGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696023" }, { "@id": "http://reg.genome.network/allele/PA2829504124", "coordinates": [ { "allele": "T", "end": 2107, "referenceAllele": "G", "start": 2106 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004013.3:c.1066G>T" ], "proteinEffect": { "hgvs": "NP_004004.2:p.Glu356Ter", "hgvsWellDefined": "NP_004004.2:p.Glu356_Met1225delinsLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuArgGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727462" }, { "@id": "http://reg.genome.network/allele/PA2573231006", "coordinates": [ { "allele": "T", "end": 318, "referenceAllele": "G", "start": 317 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004014.3:c.259G>T" ], "proteinEffect": { "hgvs": "NP_004005.2:p.Glu87Ter", "hgvsWellDefined": "NP_004005.2:p.Glu87_Met956delinsLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuArgGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727463" }, { "@id": "http://reg.genome.network/allele/PA2829508498", "coordinates": [ { "allele": "T", "end": 2107, "referenceAllele": "G", "start": 2106 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004020.4:c.1066G>T" ], "proteinEffect": { "hgvs": "NP_004011.3:p.Glu356Ter", "hgvsWellDefined": "NP_004011.3:p.Glu356_Met1115delinsLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuArgGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727464" }, { "@id": "http://reg.genome.network/allele/PA2829510809", "coordinates": [ { "allele": "T", "end": 2107, "referenceAllele": "G", "start": 2106 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004022.3:c.1066G>T" ], "proteinEffect": { "hgvs": "NP_004013.2:p.Glu356Ter", "hgvsWellDefined": "NP_004013.2:p.Glu356_Glu1230delinsLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuArgGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727465" } ], "type": "nucleotide" }