{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA412649406", "communityStandardTitle": [ "NM_004006.3(DMD):c.9634G>T (p.Glu3212Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=610240[alleleid]", "alleleId": 610240, "preferredName": "NM_004006.3(DMD):c.9634G>T (p.Glu3212Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/618599", "RCV": [ "RCV000757165", "RCV001869027" ], "variationId": 618599 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.31224714C>A?assembly=hg19", "id": "chrX:g.31224714C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.31206597C>A?assembly=hg38", "id": "chrX:g.31206597C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1569463953", "rs": 1569463953 } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 31206597, "referenceAllele": "C", "start": 31206596 } ], "hgvs": [ "NC_000023.11:g.31206597C>A", "CM000685.2:g.31206597C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 31224714, "referenceAllele": "C", "start": 31224713 } ], "hgvs": [ "NC_000023.10:g.31224714C>A", "CM000685.1:g.31224714C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 31134635, "referenceAllele": "C", "start": 31134634 } ], "hgvs": [ "NC_000023.9:g.31134635C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "T", "end": 2138013, "referenceAllele": "G", "start": 2138012 } ], "hgvs": [ "NG_012232.1:g.2138013G>T", "LRG_199:g.2138013G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002304" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 4480, "referenceAllele": "G", "start": 4479 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000358062.7:c.4480G>T" ], "proteinEffect": { "hgvs": "ENSP00000350765.3:p.Glu1494Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS826946" }, { "coordinates": [ { "allele": "T", "end": 553, "referenceAllele": "G", "start": 552 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000680768.2:c.430G>T" ], "proteinEffect": { "hgvs": "ENSP00000506359.2:p.Glu144Ter", "hgvsWellDefined": "ENSP00000506359.2:p.Glu144_Met584delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" 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}, "referenceSequence": "http://reg.genome.network/refseq/RS827233" }, { "coordinates": [ { "allele": "T", "end": 568, "referenceAllele": "G", "start": 567 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000682322.1:c.430G>T" ], "proteinEffect": { "hgvs": "ENSP00000507690.1:p.Glu144Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS827314" }, { "coordinates": [ { "allele": "T", "end": 568, "referenceAllele": "G", "start": 567 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000682600.1:c.430G>T" ], "proteinEffect": { "hgvs": "ENSP00000507640.1:p.Glu144Ter", "hgvsWellDefined": 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1152, "referenceAllele": "G", "start": 1151 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000683709.1:n.1152G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS828680" }, { "coordinates": [ { "allele": "T", "end": 3126, "referenceAllele": "G", "start": 3125 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000683957.1:n.3126G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS828920" }, { "coordinates": [ { "allele": "T", "end": 3295, "referenceAllele": "G", "start": 3294 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000684130.1:c.2254G>T" ], "proteinEffect": { "hgvs": "ENSP00000508037.1:p.Glu752Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS829088" }, { "coordinates": [ { "allele": "T", "end": 1691, "referenceAllele": "G", "start": 1690 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000343523.7:c.1489G>T" ], "proteinEffect": { "hgvs": "ENSP00000340057.4:p.Glu497Ter", "hgvsWellDefined": "ENSP00000340057.4:p.Glu497_Met970delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748148" }, { "coordinates": [ { "allele": "T", "end": 9871, "referenceAllele": "G", "start": 9870 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000357033.9:c.9634G>T" ], "proteinEffect": { "hgvs": "ENSP00000354923.3:p.Glu3212Ter", "hgvsWellDefined": "ENSP00000354923.3:p.Glu3212_Met3685delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748881", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357033.9:c.9634G>T" }, "RefSeq": { "hgvs": "NM_004006.3:c.9634G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000354923.3:p.Glu3212Ter" }, "RefSeq": { "hgvs": "NP_003997.2:p.Glu3212Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 5782, "referenceAllele": "G", "start": 5781 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000619831.5:c.5602G>T" ], "proteinEffect": { "hgvs": "ENSP00000479270.2:p.Glu1868Ter", "hgvsWellDefined": "ENSP00000479270.2:p.Glu1868_Met2341delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762247" }, { "coordinates": [ { "allele": "T", "end": 3295, "referenceAllele": "G", "start": 3294 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000620040.5:c.2254G>T" ], "proteinEffect": { "hgvs": "ENSP00000478150.2:p.Glu752Ter", "hgvsWellDefined": "ENSP00000478150.2:p.Glu752_Glu1154delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLysLysTyrProTrpLysAlaAsnGluArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762258" }, { "coordinates": [ { "allele": "T", "end": 564, "referenceAllele": "G", "start": 563 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000679641.1:c.430G>T" ], "proteinEffect": { "hgvs": "ENSP00000506135.1:p.Glu144Ter", "hgvsWellDefined": "ENSP00000506135.1:p.Glu144_Leu208delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheValGlnGluSerLysAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779269" }, { "coordinates": [ { "allele": "T", "end": 432, "referenceAllele": "G", "start": 431 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000680162.1:c.307G>T" ], "proteinEffect": { "hgvs": "ENSP00000506634.1:p.Glu103Ter", "hgvsWellDefined": "ENSP00000506634.1:p.Glu103_Glu594delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779782" }, { "coordinates": [ { "allele": "T", "end": 568, "referenceAllele": "G", "start": 567 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000680355.1:c.430G>T" ], "proteinEffect": { "hgvs": "ENSP00000506257.1:p.Glu144Ter", "hgvsWellDefined": "ENSP00000506257.1:p.Glu144_Met507delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779973" }, { "coordinates": [ { "allele": "T", "end": 549, "referenceAllele": "G", "start": 548 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000680557.1:c.430G>T" ], "proteinEffect": { "hgvs": "ENSP00000505164.1:p.Glu144Ter", "hgvsWellDefined": "ENSP00000505164.1:p.Glu144_Gly216delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheValArgLysIlePheSerValLeuProArgThrGlnAlaGlnGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780172" }, { "coordinates": [ { "allele": "T", "end": 1151, "referenceAllele": "G", "start": 1150 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000680768.1:c.373G>T" ], "proteinEffect": { "hgvs": "ENSP00000506359.1:p.Glu125Ter", "hgvsWellDefined": "ENSP00000506359.1:p.Glu125_Glu603delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780383" }, { "coordinates": [ { "allele": "T", "end": 3295, "referenceAllele": "G", "start": 3294 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000680961.1:c.2254G>T" ], "proteinEffect": { "hgvs": "ENSP00000506386.1:p.Glu752Ter", "hgvsWellDefined": "ENSP00000506386.1:p.Glu752_Leu816delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheValGlnGluSerLysAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780575" }, { "coordinates": [ { "allele": "T", "end": 568, "referenceAllele": "G", "start": 567 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000681153.1:c.430G>T" ], "proteinEffect": { "hgvs": "ENSP00000505124.1:p.Glu144Ter", "hgvsWellDefined": "ENSP00000505124.1:p.Glu144_Arg594delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgAlaSerIleArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780765" }, { "coordinates": [ { "allele": "T", "end": 572, "referenceAllele": "G", "start": 571 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000681334.1:c.430G>T" ], "proteinEffect": { "hgvs": "ENSP00000506066.1:p.Glu144Ter", "hgvsWellDefined": "ENSP00000506066.1:p.Glu144_Leu227delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheSerGlnSerLeuGluThrThrAlaLeuPheSerValProValIleLeuProPheProGluLeuAspPheLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780944" }, { "coordinates": [ { "allele": "T", "end": 564, "referenceAllele": "G", "start": 563 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000681654.1:n.564G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS781260" }, { "coordinates": [ { "allele": "T", "end": 1508, "referenceAllele": "G", "start": 1507 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000343523.6:c.1447G>T" ], "proteinEffect": { "hgvs": "ENSP00000340057.3:p.Glu483Ter", "hgvsWellDefined": "ENSP00000340057.3:p.Glu483_Met956delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261779" }, { "coordinates": [ { "allele": "T", "end": 9841, "referenceAllele": "G", "start": 9840 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000357033.8:c.9634G>T" ], "proteinEffect": { "hgvs": "ENSP00000354923.3:p.Glu3212Ter", "hgvsWellDefined": "ENSP00000354923.3:p.Glu3212_Met3685delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263955" }, { "coordinates": [ { "allele": "T", "end": 2722, "referenceAllele": "G", "start": 2721 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000358062.6:c.2722G>T" ], "proteinEffect": { "hgvs": "ENSP00000350765.2:p.Glu908Ter", "hgvsWellDefined": "ENSP00000350765.2:p.Glu908_Glu1386delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS264318" }, { "coordinates": [ { "allele": "T", "end": 3295, "referenceAllele": "G", "start": 3294 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000359836.5:c.2254G>T" ], "proteinEffect": { "hgvs": "ENSP00000352894.1:p.Glu752Ter", "hgvsWellDefined": "ENSP00000352894.1:p.Glu752_Glu1230delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS264919" }, { "coordinates": [ { "allele": "T", "end": 508, "referenceAllele": "G", "start": 507 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000361471.8:c.430G>T" ], "proteinEffect": { "hgvs": "ENSP00000354464.4:p.Glu144Ter", "hgvsWellDefined": "ENSP00000354464.4:p.Glu144_Glu622delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS265493" }, { "coordinates": [ { "allele": "T", "end": 9817, "referenceAllele": "G", "start": 9816 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000378677.6:c.9622G>T" ], "proteinEffect": { "hgvs": "ENSP00000367948.2:p.Glu3208Ter", "hgvsWellDefined": "ENSP00000367948.2:p.Glu3208_Met3681delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS272146" }, { "coordinates": [ { "allele": "T", "end": 550, "referenceAllele": "G", "start": 549 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000378680.6:c.430G>T" ], "proteinEffect": { "hgvs": "ENSP00000367951.2:p.Glu144Ter", "hgvsWellDefined": "ENSP00000367951.2:p.Glu144_Glu525delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS272148" }, { "coordinates": [ { "allele": "T", "end": 458, "referenceAllele": "G", "start": 457 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000378702.8:c.430G>T" ], "proteinEffect": { "hgvs": "ENSP00000367974.4:p.Glu144Ter", "hgvsWellDefined": "ENSP00000367974.4:p.Glu144_Met617delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS272160" }, { "coordinates": [ { "allele": "T", "end": 4, "referenceAllele": "G", "start": 3 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000378705.3:c.4G>T" ], "proteinEffect": { "hgvs": "ENSP00000367977.3:p.Glu2Ter", "hgvsWellDefined": "ENSP00000367977.3:p.Glu2_Leu238del" }, "referenceSequence": "http://reg.genome.network/refseq/RS272161" }, { "coordinates": [ { "allele": "T", "end": 3295, "referenceAllele": "G", "start": 3294 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000378707.7:c.2254G>T" ], "proteinEffect": { "hgvs": "ENSP00000367979.3:p.Glu752Ter", "hgvsWellDefined": "ENSP00000367979.3:p.Glu752_Met1225delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS272163" }, { "coordinates": [ { "allele": "T", "end": 553, "referenceAllele": "G", "start": 552 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000378723.7:c.430G>T" ], "proteinEffect": { "hgvs": "ENSP00000367997.3:p.Glu144Ter", "hgvsWellDefined": "ENSP00000367997.3:p.Glu144_Glu635delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS272172" }, { "coordinates": [ { "allele": "T", "end": 3295, "referenceAllele": "G", "start": 3294 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000474231.5:c.2254G>T" ], "proteinEffect": { "hgvs": "ENSP00000417123.1:p.Glu752Ter", "hgvsWellDefined": "ENSP00000417123.1:p.Glu752_Glu1243delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS315787" }, { "coordinates": [ { "allele": "T", "end": 3295, "referenceAllele": "G", "start": 3294 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000541735.5:c.2254G>T" ], "proteinEffect": { "hgvs": "ENSP00000444119.1:p.Glu752Ter", "hgvsWellDefined": "ENSP00000444119.1:p.Glu752_Met1115delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS363087" }, { "coordinates": [ { "allele": "T", "end": 9619, "referenceAllele": "G", "start": 9618 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000619831.4:c.9619G>T" ], "proteinEffect": { "hgvs": "ENSP00000479270.1:p.Glu3207Ter", "hgvsWellDefined": "ENSP00000479270.1:p.Glu3207_Met3680delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS404545" }, { "coordinates": [ { "allele": "T", "end": 9631, "referenceAllele": "G", "start": 9630 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000620040.4:c.9631G>T" ], "proteinEffect": { "hgvs": "ENSP00000478150.1:p.Glu3211Ter", "hgvsWellDefined": "ENSP00000478150.1:p.Glu3211_Met3684delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS404642" }, { "coordinates": [ { "allele": "T", "end": 9954, "referenceAllele": "G", "start": 9953 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_000109.3:c.9610G>T" ], "proteinEffect": { "hgvs": "NP_000100.2:p.Glu3204Ter", "hgvsWellDefined": "NP_000100.2:p.Glu3204_Met3677delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006172" }, { "@id": "http://reg.genome.network/allele/PA913197746", "coordinates": [ { "allele": "T", "end": 9878, "referenceAllele": "G", "start": 9877 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004006.2:c.9634G>T", "LRG_199t1:c.9634G>T" ], "proteinEffect": { "hgvs": "NP_003997.1:p.Glu3212Ter", "hgvsWellDefined": "NP_003997.1:p.Glu3212_Met3685delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029203" }, { "@id": "http://reg.genome.network/allele/PA2829493889", "coordinates": [ { "allele": "T", "end": 9885, "referenceAllele": "G", "start": 9884 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004009.3:c.9622G>T" ], "proteinEffect": { "hgvs": "NP_004000.1:p.Glu3208Ter", "hgvsWellDefined": "NP_004000.1:p.Glu3208_Met3681delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029204" }, { "@id": "http://reg.genome.network/allele/PA2829499007", "coordinates": [ { "allele": "T", "end": 9968, "referenceAllele": "G", "start": 9967 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004010.3:c.9265G>T" ], "proteinEffect": { "hgvs": "NP_004001.1:p.Glu3089Ter", "hgvsWellDefined": "NP_004001.1:p.Glu3089_Met3562delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029205" }, { "coordinates": [ { "allele": "T", "end": 5656, "referenceAllele": "G", "start": 5655 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004011.3:c.5611G>T" ], "proteinEffect": { "hgvs": "NP_004002.2:p.Glu1871Ter", "hgvsWellDefined": "NP_004002.2:p.Glu1871_Met2344delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029206" }, { "coordinates": [ { "allele": "T", "end": 5799, "referenceAllele": "G", "start": 5798 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004012.3:c.5602G>T" ], "proteinEffect": { "hgvs": "NP_004003.1:p.Glu1868Ter", "hgvsWellDefined": "NP_004003.1:p.Glu1868_Met2341delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029207" }, { "coordinates": [ { "allele": "T", "end": 3295, "referenceAllele": "G", "start": 3294 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004013.2:c.2254G>T" ], "proteinEffect": { "hgvs": "NP_004004.1:p.Glu752Ter", "hgvsWellDefined": "NP_004004.1:p.Glu752_Met1225delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029208" }, { "coordinates": [ { "allele": "T", "end": 1508, "referenceAllele": "G", "start": 1507 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004014.2:c.1447G>T" ], "proteinEffect": { "hgvs": "NP_004005.1:p.Glu483Ter", "hgvsWellDefined": "NP_004005.1:p.Glu483_Met956delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029209" }, { "@id": "http://reg.genome.network/allele/PA2829505867", "coordinates": [ { "allele": "T", "end": 508, "referenceAllele": "G", "start": 507 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004015.2:c.430G>T" ], "proteinEffect": { "hgvs": "NP_004006.1:p.Glu144Ter", "hgvsWellDefined": "NP_004006.1:p.Glu144_Met617delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029210" }, { "@id": "http://reg.genome.network/allele/PA2829506405", "coordinates": [ { "allele": "T", "end": 508, "referenceAllele": "G", "start": 507 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004016.2:c.430G>T" ], "proteinEffect": { "hgvs": "NP_004007.1:p.Glu144Ter", "hgvsWellDefined": "NP_004007.1:p.Glu144_Glu635delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029211" }, { "@id": "http://reg.genome.network/allele/PA2829506938", "coordinates": [ { "allele": "T", "end": 508, "referenceAllele": "G", "start": 507 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004017.2:c.430G>T" ], "proteinEffect": { "hgvs": "NP_004008.1:p.Glu144Ter", "hgvsWellDefined": "NP_004008.1:p.Glu144_Met604delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029212" }, { "@id": "http://reg.genome.network/allele/PA2829507454", "coordinates": [ { "allele": "T", "end": 508, "referenceAllele": "G", "start": 507 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004018.2:c.430G>T" ], "proteinEffect": { "hgvs": "NP_004009.1:p.Glu144Ter", "hgvsWellDefined": "NP_004009.1:p.Glu144_Glu622delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029213" }, { "@id": "http://reg.genome.network/allele/PA2829507943", "coordinates": [ { "allele": "T", "end": 508, "referenceAllele": "G", "start": 507 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004019.2:c.430G>T" ], "proteinEffect": { "hgvs": "NP_004010.1:p.Glu144Ter", "hgvsWellDefined": "NP_004010.1:p.Glu144_Thr340delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029214" }, { "coordinates": [ { "allele": "T", "end": 3295, "referenceAllele": "G", "start": 3294 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004020.3:c.2254G>T" ], "proteinEffect": { "hgvs": "NP_004011.2:p.Glu752Ter", "hgvsWellDefined": "NP_004011.2:p.Glu752_Met1115delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029215" }, { "coordinates": [ { "allele": "T", "end": 3295, "referenceAllele": "G", "start": 3294 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004021.2:c.2254G>T" ], "proteinEffect": { "hgvs": "NP_004012.1:p.Glu752Ter", "hgvsWellDefined": "NP_004012.1:p.Glu752_Glu1243delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029216" }, { "coordinates": [ { "allele": "T", "end": 3295, "referenceAllele": "G", "start": 3294 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004022.2:c.2254G>T" ], "proteinEffect": { "hgvs": "NP_004013.1:p.Glu752Ter", "hgvsWellDefined": "NP_004013.1:p.Glu752_Glu1230delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029217" }, { "coordinates": [ { "allele": "T", "end": 3295, "referenceAllele": "G", "start": 3294 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004023.2:c.2254G>T" ], "proteinEffect": { "hgvs": "NP_004014.1:p.Glu752Ter", "hgvsWellDefined": "NP_004014.1:p.Glu752_Glu1133delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029218" }, { "coordinates": [ { "allele": "T", "end": 9831, "referenceAllele": "G", "start": 9830 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724468.2:c.9634G>T" ], "proteinEffect": { "hgvs": "XP_006724531.1:p.Glu3212Ter", "hgvsWellDefined": "XP_006724531.1:p.Glu3212_Glu3703delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075527" }, { "coordinates": [ { "allele": "T", "end": 9713, "referenceAllele": "G", "start": 9712 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724469.2:c.9610G>T" ], "proteinEffect": { "hgvs": "XP_006724532.1:p.Glu3204Ter", "hgvsWellDefined": "XP_006724532.1:p.Glu3204_Glu3695delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075528" }, { "coordinates": [ { "allele": "T", "end": 9831, "referenceAllele": "G", "start": 9830 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724470.2:c.9634G>T" ], "proteinEffect": { "hgvs": "XP_006724533.1:p.Glu3212Ter", "hgvsWellDefined": "XP_006724533.1:p.Glu3212_Glu3690delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075529" }, { "coordinates": [ { "allele": "T", "end": 9831, "referenceAllele": "G", "start": 9830 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724471.2:c.9634G>T" ], "proteinEffect": { "hgvs": "XP_006724534.1:p.Glu3212Ter", "hgvsWellDefined": "XP_006724534.1:p.Glu3212_Glu3668delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075530" }, { "coordinates": [ { "allele": "T", "end": 9702, "referenceAllele": "G", "start": 9701 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724472.2:c.9505G>T" ], "proteinEffect": { "hgvs": "XP_006724535.1:p.Glu3169Ter", "hgvsWellDefined": "XP_006724535.1:p.Glu3169_Glu3660delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075531" }, { "coordinates": [ { "allele": "T", "end": 9693, "referenceAllele": "G", "start": 9692 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724473.2:c.9496G>T" ], "proteinEffect": { "hgvs": "XP_006724536.1:p.Glu3166Ter", "hgvsWellDefined": "XP_006724536.1:p.Glu3166_Glu3657delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075532" }, { "coordinates": [ { "allele": "T", "end": 9831, "referenceAllele": "G", "start": 9830 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724474.2:c.9634G>T" ], "proteinEffect": { "hgvs": "XP_006724537.1:p.Glu3212Ter", "hgvsWellDefined": "XP_006724537.1:p.Glu3212_Glu3593delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075533" }, { "coordinates": [ { "allele": "T", "end": 9831, "referenceAllele": "G", "start": 9830 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724475.2:c.9634G>T" ], "proteinEffect": { "hgvs": "XP_006724538.1:p.Glu3212Ter", "hgvsWellDefined": "XP_006724538.1:p.Glu3212_Met3575delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075534" }, { "coordinates": [ { "allele": "T", "end": 9708, "referenceAllele": "G", "start": 9707 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_011545467.1:c.9511G>T" ], "proteinEffect": { "hgvs": "XP_011543769.1:p.Glu3171Ter", "hgvsWellDefined": "XP_011543769.1:p.Glu3171_Glu3662delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS112367" }, { "coordinates": [ { "allele": "T", "end": 9831, "referenceAllele": "G", "start": 9830 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_011545468.1:c.9634G>T" ], "proteinEffect": { "hgvs": "XP_011543770.1:p.Glu3212Ter", "hgvsWellDefined": "XP_011543770.1:p.Glu3212_Leu3295delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheSerGlnSerLeuGluThrThrAlaLeuPheSerValProValIleLeuProPheProGluLeuAspPheLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS112368" }, { "coordinates": [ { "allele": "T", "end": 9805, "referenceAllele": "G", "start": 9804 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724469.3:c.9610G>T" ], "proteinEffect": { "hgvs": "XP_006724532.1:p.Glu3204Ter", "hgvsWellDefined": "XP_006724532.1:p.Glu3204_Glu3695delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540982" }, { "coordinates": [ { "allele": "T", "end": 9831, "referenceAllele": "G", "start": 9830 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724470.3:c.9634G>T" ], "proteinEffect": { "hgvs": "XP_006724533.1:p.Glu3212Ter", "hgvsWellDefined": "XP_006724533.1:p.Glu3212_Glu3690delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540983" }, { "coordinates": [ { "allele": "T", "end": 9831, "referenceAllele": "G", "start": 9830 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724474.3:c.9634G>T" ], "proteinEffect": { "hgvs": "XP_006724537.1:p.Glu3212Ter", "hgvsWellDefined": "XP_006724537.1:p.Glu3212_Glu3593delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540984" }, { "coordinates": [ { "allele": "T", "end": 9831, "referenceAllele": "G", "start": 9830 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_011545468.2:c.9634G>T" ], "proteinEffect": { "hgvs": "XP_011543770.1:p.Glu3212Ter", "hgvsWellDefined": "XP_011543770.1:p.Glu3212_Leu3295delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheSerGlnSerLeuGluThrThrAlaLeuPheSerValProValIleLeuProPheProGluLeuAspPheLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS556096" }, { "coordinates": [ { "allele": "T", "end": 9831, "referenceAllele": "G", "start": 9830 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_017029328.1:c.9634G>T" ], "proteinEffect": { "hgvs": "XP_016884817.1:p.Glu3212Ter", "hgvsWellDefined": "XP_016884817.1:p.Glu3212_Met3672delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578892" }, { "coordinates": [ { "allele": "T", "end": 4407, "referenceAllele": "G", "start": 4406 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_017029331.1:c.3808G>T" ], "proteinEffect": { "hgvs": "XP_016884820.1:p.Glu1270Ter", "hgvsWellDefined": "XP_016884820.1:p.Glu1270_Glu1761delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578895" }, { "@id": "http://reg.genome.network/allele/PA2825074758", "coordinates": [ { "allele": "T", "end": 9733, "referenceAllele": "G", "start": 9732 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_000109.4:c.9610G>T" ], "proteinEffect": { "hgvs": "NP_000100.3:p.Glu3204Ter", "hgvsWellDefined": "NP_000100.3:p.Glu3204_Met3677delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674704" }, { "@id": "http://reg.genome.network/allele/PA2829487463", "coordinates": [ { "allele": "T", "end": 9871, "referenceAllele": "G", "start": 9870 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004006.3:c.9634G>T" ], "proteinEffect": { "hgvs": "NP_003997.2:p.Glu3212Ter", "hgvsWellDefined": "NP_003997.2:p.Glu3212_Met3685delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696014", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357033.9:c.9634G>T" }, "RefSeq": { "hgvs": "NM_004006.3:c.9634G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000354923.3:p.Glu3212Ter" }, "RefSeq": { "hgvs": "NP_003997.2:p.Glu3212Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2829500750", "coordinates": [ { "allele": "T", "end": 5630, "referenceAllele": "G", "start": 5629 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004011.4:c.5611G>T" ], "proteinEffect": { "hgvs": "NP_004002.3:p.Glu1871Ter", "hgvsWellDefined": "NP_004002.3:p.Glu1871_Met2344delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696015" }, { "@id": "http://reg.genome.network/allele/PA2829503340", "coordinates": [ { "allele": "T", "end": 5773, "referenceAllele": "G", "start": 5772 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004012.4:c.5602G>T" ], "proteinEffect": { "hgvs": "NP_004003.2:p.Glu1868Ter", "hgvsWellDefined": "NP_004003.2:p.Glu1868_Met2341delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696016" }, { "@id": "http://reg.genome.network/allele/PA2829505867", "coordinates": [ { "allele": "T", "end": 555, "referenceAllele": "G", "start": 554 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004015.3:c.430G>T" ], "proteinEffect": { "hgvs": "NP_004006.1:p.Glu144Ter", "hgvsWellDefined": "NP_004006.1:p.Glu144_Met617delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696017" }, { "@id": "http://reg.genome.network/allele/PA2829506405", "coordinates": [ { "allele": "T", "end": 555, "referenceAllele": "G", "start": 554 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004016.3:c.430G>T" ], "proteinEffect": { "hgvs": "NP_004007.1:p.Glu144Ter", "hgvsWellDefined": "NP_004007.1:p.Glu144_Glu635delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696018" }, { "@id": "http://reg.genome.network/allele/PA2829506938", "coordinates": [ { "allele": "T", "end": 555, "referenceAllele": "G", "start": 554 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004017.3:c.430G>T" ], "proteinEffect": { "hgvs": "NP_004008.1:p.Glu144Ter", "hgvsWellDefined": "NP_004008.1:p.Glu144_Met604delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696019" }, { "@id": "http://reg.genome.network/allele/PA2829507454", "coordinates": [ { "allele": "T", "end": 555, "referenceAllele": "G", "start": 554 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004018.3:c.430G>T" ], "proteinEffect": { "hgvs": "NP_004009.1:p.Glu144Ter", "hgvsWellDefined": "NP_004009.1:p.Glu144_Glu622delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696020" }, { "@id": "http://reg.genome.network/allele/PA2829507943", "coordinates": [ { "allele": "T", "end": 555, "referenceAllele": "G", "start": 554 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004019.3:c.430G>T" ], "proteinEffect": { "hgvs": "NP_004010.1:p.Glu144Ter", "hgvsWellDefined": "NP_004010.1:p.Glu144_Thr340delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696021" }, { "@id": "http://reg.genome.network/allele/PA2829510055", "coordinates": [ { "allele": "T", "end": 3295, "referenceAllele": "G", "start": 3294 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004021.3:c.2254G>T" ], "proteinEffect": { "hgvs": "NP_004012.2:p.Glu752Ter", "hgvsWellDefined": "NP_004012.2:p.Glu752_Glu1243delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696022" }, { "@id": "http://reg.genome.network/allele/PA916002794", "coordinates": [ { "allele": "T", "end": 3295, "referenceAllele": "G", "start": 3294 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004023.3:c.2254G>T" ], "proteinEffect": { "hgvs": "NP_004014.2:p.Glu752Ter", "hgvsWellDefined": "NP_004014.2:p.Glu752_Glu1133delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696023" }, { "@id": "http://reg.genome.network/allele/PA2829504550", "coordinates": [ { "allele": "T", "end": 3295, "referenceAllele": "G", "start": 3294 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004013.3:c.2254G>T" ], "proteinEffect": { "hgvs": "NP_004004.2:p.Glu752Ter", "hgvsWellDefined": "NP_004004.2:p.Glu752_Met1225delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727462" }, { "@id": "http://reg.genome.network/allele/PA2829505412", "coordinates": [ { "allele": "T", "end": 1506, "referenceAllele": "G", "start": 1505 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004014.3:c.1447G>T" ], "proteinEffect": { "hgvs": "NP_004005.2:p.Glu483Ter", "hgvsWellDefined": "NP_004005.2:p.Glu483_Met956delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727463" }, { "@id": "http://reg.genome.network/allele/PA2829508925", "coordinates": [ { "allele": "T", "end": 3295, "referenceAllele": "G", "start": 3294 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004020.4:c.2254G>T" ], "proteinEffect": { "hgvs": "NP_004011.3:p.Glu752Ter", "hgvsWellDefined": "NP_004011.3:p.Glu752_Met1115delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727464" }, { "@id": "http://reg.genome.network/allele/PA2829511236", "coordinates": [ { "allele": "T", "end": 3295, "referenceAllele": "G", "start": 3294 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004022.3:c.2254G>T" ], "proteinEffect": { "hgvs": "NP_004013.2:p.Glu752Ter", "hgvsWellDefined": "NP_004013.2:p.Glu752_Glu1230delinsAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727465" } ], "type": "nucleotide" }