{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA347218256", "communityStandardTitle": [ "NM_001130987.2(DYSF):c.3336G>A (p.Trp1112Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2055120[alleleid]", "alleleId": 2055120, "preferredName": "NM_001130987.2(DYSF):c.3336G>A (p.Trp1112Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2003200", "RCV": [ "RCV002825164" ], "variationId": 2003200 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.71801435G>A?assembly=hg19", "id": "chr2:g.71801435G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.71574305G>A?assembly=hg38", "id": "chr2:g.71574305G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1558513252", "rs": 1558513252 } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 71574305, "referenceAllele": "G", "start": 71574304 } ], "hgvs": [ "NC_000002.12:g.71574305G>A", "CM000664.2:g.71574305G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 71801435, "referenceAllele": "G", "start": 71801434 } ], "hgvs": [ "NC_000002.11:g.71801435G>A", "CM000664.1:g.71801435G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 71654943, "referenceAllele": "G", "start": 71654942 } ], "hgvs": [ "NC_000002.10:g.71654943G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "A", "end": 125683, "referenceAllele": "G", "start": 125682 } ], "hgvs": [ "NG_008694.1:g.125683G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001172" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 708, "referenceAllele": "G", "start": 707 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000698057.1:c.708G>A" ], "proteinEffect": { "hgvs": "ENSP00000513536.1:p.Trp236Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS909126" }, { "coordinates": [ { "allele": "A", "end": 3720, "referenceAllele": "G", "start": 3719 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000258104.8:c.3282G>A" ], "proteinEffect": { "hgvs": "ENSP00000258104.3:p.Trp1094Ter", "hgvsWellDefined": "ENSP00000258104.3:p.Trp1094_Ser2080delinsArgArgArgMetGluProLeuGluLysThrGlyProAlaAlaValPheAlaLeuGluGlyAlaLeuGlyGlyValMetAspAspLysSerGluAspSerMetSerValSerThrLeuSerPheGlyValAsnArgProThrIleSerCysIlePheAspTyrGlyAsnArgTyrHisLeuArgCysTyrMetTyrGlnAlaArgAspLeuAlaAlaMetAspLysAspSerPheSerAspProTyrAlaIleValSerPheLeuHisGlnSerGlnLysThrValValValLysAsnThrLeuAsnProThrTrpAspGlnThrLeuIlePheTyrGluIleGluIlePheGlyGluProAlaThrValAlaGluGlnProProSerIleValValGluLeuTyrAspHisAspThrTyrGlyAlaAspGluPheMetGlyArgCysIleCysGlnProSerLeuGluArgMetProArgLeuAlaTrpPheProLeuThrArgGlySerGlnProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS823608", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000258104.8:c.3282G>A" }, "RefSeq": { "hgvs": "NM_003494.4:c.3282G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000258104.3:p.Trp1094Ter" }, "RefSeq": { "hgvs": "NP_003485.1:p.Trp1094Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 3480, "referenceAllele": "G", "start": 3479 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000410020.8:c.3336G>A" ], "proteinEffect": { "hgvs": "ENSP00000386881.3:p.Trp1112Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS754364", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000410020.8:c.3336G>A" }, "RefSeq": { "hgvs": "NM_001130987.2:c.3336G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000386881.3:p.Trp1112Ter" }, "RefSeq": { "hgvs": "NP_001124459.1:p.Trp1112Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 3559, "referenceAllele": "G", "start": 3558 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000258104.7:c.3282G>A" ], "proteinEffect": { "hgvs": "ENSP00000258104.3:p.Trp1094Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS250344" }, { "coordinates": [ { "allele": "A", "end": 3426, "referenceAllele": "G", "start": 3425 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000394120.6:c.3285G>A" ], "proteinEffect": { "hgvs": "ENSP00000377678.2:p.Trp1095Ter", "hgvsWellDefined": "ENSP00000377678.2:p.Trp1095_Ser2081delinsArgArgArgMetGluProLeuGluLysThrGlyProAlaAlaValPheAlaLeuGluGlyAlaLeuGlyGlyValMetAspAspLysSerGluAspSerMetSerValSerThrLeuSerPheGlyValAsnArgProThrIleSerCysIlePheAspTyrGlyAsnArgTyrHisLeuArgCysTyrMetTyrGlnAlaArgAspLeuAlaAlaMetAspLysAspSerPheSerAspProTyrAlaIleValSerPheLeuHisGlnSerGlnLysThrValValValLysAsnThrLeuAsnProThrTrpAspGlnThrLeuIlePheTyrGluIleGluIlePheGlyGluProAlaThrValAlaGluGlnProProSerIleValValGluLeuTyrAspHisAspThrTyrGlyAlaAspGluPheMetGlyArgCysIleCysGlnProSerLeuGluArgMetProArgLeuAlaTrpPheProLeuThrArgGlySerGlnProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS275989" }, { "coordinates": [ { "allele": "A", "end": 3426, "referenceAllele": "G", "start": 3425 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000409366.5:c.3285G>A" ], "proteinEffect": { "hgvs": "ENSP00000386512.1:p.Trp1095Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS281485" }, { "coordinates": [ { "allele": "A", "end": 3610, "referenceAllele": "G", "start": 3609 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000409582.7:c.3333G>A" ], "proteinEffect": { "hgvs": "ENSP00000386547.3:p.Trp1111Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS281674" }, { "coordinates": [ { "allele": "A", "end": 3519, "referenceAllele": "G", "start": 3518 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000409651.5:c.3378G>A" ], "proteinEffect": { "hgvs": "ENSP00000386683.1:p.Trp1126Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS281733" }, { "coordinates": [ { "allele": "A", "end": 3384, "referenceAllele": "G", "start": 3383 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000409744.5:c.3243G>A" ], "proteinEffect": { "hgvs": "ENSP00000386285.1:p.Trp1081Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS281812" }, { "coordinates": [ { "allele": "A", "end": 3610, "referenceAllele": "G", "start": 3609 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000409762.5:c.3333G>A" ], "proteinEffect": { "hgvs": "ENSP00000387137.1:p.Trp1111Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS281827" }, { "coordinates": [ { "allele": "A", "end": 3477, "referenceAllele": "G", "start": 3476 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000410020.7:c.3336G>A" ], "proteinEffect": { "hgvs": "ENSP00000386881.3:p.Trp1112Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS282050" }, { "coordinates": [ { "allele": "A", "end": 3477, "referenceAllele": "G", "start": 3476 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000410041.1:c.3336G>A" ], "proteinEffect": { "hgvs": "ENSP00000386617.1:p.Trp1112Ter", "hgvsWellDefined": "ENSP00000386617.1:p.Trp1112_Ser2098delinsArgArgArgMetGluProLeuGluLysThrGlyProAlaAlaValPheAlaLeuGluGlyAlaLeuGlyGlyValMetAspAspLysSerGluAspSerMetSerValSerThrLeuSerPheGlyValAsnArgProThrIleSerCysIlePheAspTyrGlyAsnArgTyrHisLeuArgCysTyrMetTyrGlnAlaArgAspLeuAlaAlaMetAspLysAspSerPheSerAspProTyrAlaIleValSerPheLeuHisGlnSerGlnLysThrValValValLysAsnThrLeuAsnProThrTrpAspGlnThrLeuIlePheTyrGluIleGluIlePheGlyGluProAlaThrValAlaGluGlnProProSerIleValValGluLeuTyrAspHisAspThrTyrGlyAlaAspGluPheMetGlyArgCysIleCysGlnProSerLeuGluArgMetProArgLeuAlaTrpPheProLeuThrArgGlySerGlnProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS282070" }, { "coordinates": [ { "allele": "A", "end": 3652, "referenceAllele": "G", "start": 3651 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000413539.6:c.3375G>A" ], "proteinEffect": { "hgvs": "ENSP00000407046.2:p.Trp1125Ter", "hgvsWellDefined": "ENSP00000407046.2:p.Trp1125_Ser2111delinsArgArgArgMetGluProLeuGluLysThrGlyProAlaAlaValPheAlaLeuGluGlyAlaLeuGlyGlyValMetAspAspLysSerGluAspSerMetSerValSerThrLeuSerPheGlyValAsnArgProThrIleSerCysIlePheAspTyrGlyAsnArgTyrHisLeuArgCysTyrMetTyrGlnAlaArgAspLeuAlaAlaMetAspLysAspSerPheSerAspProTyrAlaIleValSerPheLeuHisGlnSerGlnLysThrValValValLysAsnThrLeuAsnProThrTrpAspGlnThrLeuIlePheTyrGluIleGluIlePheGlyGluProAlaThrValAlaGluGlnProProSerIleValValGluLeuTyrAspHisAspThrTyrGlyAlaAspGluPheMetGlyArgCysIleCysGlnProSerLeuGluArgMetProArgLeuAlaTrpPheProLeuThrArgGlySerGlnProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS283111" }, { "coordinates": [ { "allele": "A", "end": 3559, "referenceAllele": "G", "start": 3558 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000429174.6:c.3282G>A" ], "proteinEffect": { "hgvs": "ENSP00000398305.2:p.Trp1094Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS290540" }, { "@id": "http://reg.genome.network/allele/PA2825694397", "coordinates": [ { "allele": "A", "end": 3426, "referenceAllele": "G", "start": 3425 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130455.1:c.3285G>A" ], "proteinEffect": { "hgvs": "NP_001123927.1:p.Trp1095Ter", "hgvsWellDefined": "NP_001123927.1:p.Trp1095_Ser2081delinsArgArgArgMetGluProLeuGluLysThrGlyProAlaAlaValPheAlaLeuGluGlyAlaLeuGlyGlyValMetAspAspLysSerGluAspSerMetSerValSerThrLeuSerPheGlyValAsnArgProThrIleSerCysIlePheAspTyrGlyAsnArgTyrHisLeuArgCysTyrMetTyrGlnAlaArgAspLeuAlaAlaMetAspLysAspSerPheSerAspProTyrAlaIleValSerPheLeuHisGlnSerGlnLysThrValValValLysAsnThrLeuAsnProThrTrpAspGlnThrLeuIlePheTyrGluIleGluIlePheGlyGluProAlaThrValAlaGluGlnProProSerIleValValGluLeuTyrAspHisAspThrTyrGlyAlaAspGluPheMetGlyArgCysIleCysGlnProSerLeuGluArgMetProArgLeuAlaTrpPheProLeuThrArgGlySerGlnProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012028" }, { "@id": "http://reg.genome.network/allele/PA2825747883", "coordinates": [ { "allele": "A", "end": 3616, "referenceAllele": "G", "start": 3615 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130976.1:c.3240G>A" ], "proteinEffect": { "hgvs": "NP_001124448.1:p.Trp1080Ter", "hgvsWellDefined": "NP_001124448.1:p.Trp1080_Ser2066delinsArgArgArgMetGluProLeuGluLysThrGlyProAlaAlaValPheAlaLeuGluGlyAlaLeuGlyGlyValMetAspAspLysSerGluAspSerMetSerValSerThrLeuSerPheGlyValAsnArgProThrIleSerCysIlePheAspTyrGlyAsnArgTyrHisLeuArgCysTyrMetTyrGlnAlaArgAspLeuAlaAlaMetAspLysAspSerPheSerAspProTyrAlaIleValSerPheLeuHisGlnSerGlnLysThrValValValLysAsnThrLeuAsnProThrTrpAspGlnThrLeuIlePheTyrGluIleGluIlePheGlyGluProAlaThrValAlaGluGlnProProSerIleValValGluLeuTyrAspHisAspThrTyrGlyAlaAspGluPheMetGlyArgCysIleCysGlnProSerLeuGluArgMetProArgLeuAlaTrpPheProLeuThrArgGlySerGlnProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012145" }, { "coordinates": [ { "allele": "A", "end": 3616, "referenceAllele": "G", "start": 3615 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130977.1:c.3240G>A" ], "proteinEffect": { "hgvs": "NP_001124449.1:p.Trp1080Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS012146" }, { "coordinates": [ { "allele": "A", "end": 3658, "referenceAllele": "G", "start": 3657 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130978.1:c.3282G>A" ], "proteinEffect": { "hgvs": "NP_001124450.1:p.Trp1094Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS012147" }, { "@id": "http://reg.genome.network/allele/PA2825754685", "coordinates": [ { "allele": "A", "end": 3751, "referenceAllele": "G", "start": 3750 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130979.1:c.3375G>A" ], "proteinEffect": { "hgvs": "NP_001124451.1:p.Trp1125Ter", "hgvsWellDefined": "NP_001124451.1:p.Trp1125_Ser2111delinsArgArgArgMetGluProLeuGluLysThrGlyProAlaAlaValPheAlaLeuGluGlyAlaLeuGlyGlyValMetAspAspLysSerGluAspSerMetSerValSerThrLeuSerPheGlyValAsnArgProThrIleSerCysIlePheAspTyrGlyAsnArgTyrHisLeuArgCysTyrMetTyrGlnAlaArgAspLeuAlaAlaMetAspLysAspSerPheSerAspProTyrAlaIleValSerPheLeuHisGlnSerGlnLysThrValValValLysAsnThrLeuAsnProThrTrpAspGlnThrLeuIlePheTyrGluIleGluIlePheGlyGluProAlaThrValAlaGluGlnProProSerIleValValGluLeuTyrAspHisAspThrTyrGlyAlaAspGluPheMetGlyArgCysIleCysGlnProSerLeuGluArgMetProArgLeuAlaTrpPheProLeuThrArgGlySerGlnProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012148" }, { "@id": "http://reg.genome.network/allele/PA2825756951", "coordinates": [ { "allele": "A", "end": 3709, "referenceAllele": "G", "start": 3708 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130980.1:c.3333G>A" ], "proteinEffect": { "hgvs": "NP_001124452.1:p.Trp1111Ter", "hgvsWellDefined": "NP_001124452.1:p.Trp1111_Ser2097delinsArgArgArgMetGluProLeuGluLysThrGlyProAlaAlaValPheAlaLeuGluGlyAlaLeuGlyGlyValMetAspAspLysSerGluAspSerMetSerValSerThrLeuSerPheGlyValAsnArgProThrIleSerCysIlePheAspTyrGlyAsnArgTyrHisLeuArgCysTyrMetTyrGlnAlaArgAspLeuAlaAlaMetAspLysAspSerPheSerAspProTyrAlaIleValSerPheLeuHisGlnSerGlnLysThrValValValLysAsnThrLeuAsnProThrTrpAspGlnThrLeuIlePheTyrGluIleGluIlePheGlyGluProAlaThrValAlaGluGlnProProSerIleValValGluLeuTyrAspHisAspThrTyrGlyAlaAspGluPheMetGlyArgCysIleCysGlnProSerLeuGluArgMetProArgLeuAlaTrpPheProLeuThrArgGlySerGlnProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012149" }, { "coordinates": [ { "allele": "A", "end": 3709, "referenceAllele": "G", "start": 3708 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130981.1:c.3333G>A" ], "proteinEffect": { "hgvs": "NP_001124453.1:p.Trp1111Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS012150" }, { "@id": "http://reg.genome.network/allele/PA2580152686", "coordinates": [ { "allele": "A", "end": 3519, "referenceAllele": "G", "start": 3518 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130982.1:c.3378G>A" ], "proteinEffect": { "hgvs": "NP_001124454.1:p.Trp1126Ter", "hgvsWellDefined": "NP_001124454.1:p.Trp1126_Ser2112delinsArgArgArgMetGluProLeuGluLysThrGlyProAlaAlaValPheAlaLeuGluGlyAlaLeuGlyGlyValMetAspAspLysSerGluAspSerMetSerValSerThrLeuSerPheGlyValAsnArgProThrIleSerCysIlePheAspTyrGlyAsnArgTyrHisLeuArgCysTyrMetTyrGlnAlaArgAspLeuAlaAlaMetAspLysAspSerPheSerAspProTyrAlaIleValSerPheLeuHisGlnSerGlnLysThrValValValLysAsnThrLeuAsnProThrTrpAspGlnThrLeuIlePheTyrGluIleGluIlePheGlyGluProAlaThrValAlaGluGlnProProSerIleValValGluLeuTyrAspHisAspThrTyrGlyAlaAspGluPheMetGlyArgCysIleCysGlnProSerLeuGluArgMetProArgLeuAlaTrpPheProLeuThrArgGlySerGlnProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012151" }, { "coordinates": [ { "allele": "A", "end": 3426, "referenceAllele": "G", "start": 3425 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130983.1:c.3285G>A" ], "proteinEffect": { "hgvs": "NP_001124455.1:p.Trp1095Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS012152" }, { "coordinates": [ { "allele": "A", "end": 3384, "referenceAllele": "G", "start": 3383 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130984.1:c.3243G>A" ], "proteinEffect": { "hgvs": "NP_001124456.1:p.Trp1081Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS012153" }, { "@id": "http://reg.genome.network/allele/PA2825767588", "coordinates": [ { "allele": "A", "end": 3477, "referenceAllele": "G", "start": 3476 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130985.1:c.3336G>A" ], "proteinEffect": { "hgvs": "NP_001124457.1:p.Trp1112Ter", "hgvsWellDefined": "NP_001124457.1:p.Trp1112_Ser2098delinsArgArgArgMetGluProLeuGluLysThrGlyProAlaAlaValPheAlaLeuGluGlyAlaLeuGlyGlyValMetAspAspLysSerGluAspSerMetSerValSerThrLeuSerPheGlyValAsnArgProThrIleSerCysIlePheAspTyrGlyAsnArgTyrHisLeuArgCysTyrMetTyrGlnAlaArgAspLeuAlaAlaMetAspLysAspSerPheSerAspProTyrAlaIleValSerPheLeuHisGlnSerGlnLysThrValValValLysAsnThrLeuAsnProThrTrpAspGlnThrLeuIlePheTyrGluIleGluIlePheGlyGluProAlaThrValAlaGluGlnProProSerIleValValGluLeuTyrAspHisAspThrTyrGlyAlaAspGluPheMetGlyArgCysIleCysGlnProSerLeuGluArgMetProArgLeuAlaTrpPheProLeuThrArgGlySerGlnProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012154" }, { "@id": "http://reg.genome.network/allele/PA2825769805", "coordinates": [ { "allele": "A", "end": 3384, "referenceAllele": "G", "start": 3383 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130986.1:c.3243G>A" ], "proteinEffect": { "hgvs": "NP_001124458.1:p.Trp1081Ter", "hgvsWellDefined": "NP_001124458.1:p.Trp1081_Ser2067delinsArgArgArgMetGluProLeuGluLysThrGlyProAlaAlaValPheAlaLeuGluGlyAlaLeuGlyGlyValMetAspAspLysSerGluAspSerMetSerValSerThrLeuSerPheGlyValAsnArgProThrIleSerCysIlePheAspTyrGlyAsnArgTyrHisLeuArgCysTyrMetTyrGlnAlaArgAspLeuAlaAlaMetAspLysAspSerPheSerAspProTyrAlaIleValSerPheLeuHisGlnSerGlnLysThrValValValLysAsnThrLeuAsnProThrTrpAspGlnThrLeuIlePheTyrGluIleGluIlePheGlyGluProAlaThrValAlaGluGlnProProSerIleValValGluLeuTyrAspHisAspThrTyrGlyAlaAspGluPheMetGlyArgCysIleCysGlnProSerLeuGluArgMetProArgLeuAlaTrpPheProLeuThrArgGlySerGlnProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012155" }, { "coordinates": [ { "allele": "A", "end": 3477, "referenceAllele": "G", "start": 3476 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130987.1:c.3336G>A" ], "proteinEffect": { "hgvs": "NP_001124459.1:p.Trp1112Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS012156" }, { "@id": "http://reg.genome.network/allele/PA2829467361", "coordinates": [ { "allele": "A", "end": 3658, "referenceAllele": "G", "start": 3657 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_003494.3:c.3282G>A" ], "proteinEffect": { "hgvs": "NP_003485.1:p.Trp1094Ter", "hgvsWellDefined": "NP_003485.1:p.Trp1094_Ser2080delinsArgArgArgMetGluProLeuGluLysThrGlyProAlaAlaValPheAlaLeuGluGlyAlaLeuGlyGlyValMetAspAspLysSerGluAspSerMetSerValSerThrLeuSerPheGlyValAsnArgProThrIleSerCysIlePheAspTyrGlyAsnArgTyrHisLeuArgCysTyrMetTyrGlnAlaArgAspLeuAlaAlaMetAspLysAspSerPheSerAspProTyrAlaIleValSerPheLeuHisGlnSerGlnLysThrValValValLysAsnThrLeuAsnProThrTrpAspGlnThrLeuIlePheTyrGluIleGluIlePheGlyGluProAlaThrValAlaGluGlnProProSerIleValValGluLeuTyrAspHisAspThrTyrGlyAlaAspGluPheMetGlyArgCysIleCysGlnProSerLeuGluArgMetProArgLeuAlaTrpPheProLeuThrArgGlySerGlnProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS028733" }, { "coordinates": [ { "allele": "A", "end": 3518, "referenceAllele": "G", "start": 3517 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "XM_005264584.3:c.3378G>A" ], "proteinEffect": { "hgvs": "XP_005264641.1:p.Trp1126Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS064299" }, { "coordinates": [ { "allele": "A", "end": 4255, "referenceAllele": "G", "start": 4254 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "XM_005264585.3:c.3375G>A" ], "proteinEffect": { "hgvs": "XP_005264642.1:p.Trp1125Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS064300" }, { "coordinates": [ { "allele": "A", "end": 3534, "referenceAllele": "G", "start": 3533 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "XM_005264584.4:c.3378G>A" ], "proteinEffect": { "hgvs": "XP_005264641.1:p.Trp1126Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS535912" }, { "coordinates": [ { "allele": "A", "end": 4220, "referenceAllele": "G", "start": 4219 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "XM_005264585.5:c.3375G>A" ], "proteinEffect": { "hgvs": "XP_005264642.1:p.Trp1125Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS535913" }, { "coordinates": [ { "allele": "A", "end": 3536, "referenceAllele": "G", "start": 3535 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "XR_001738969.1:n.3536G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS589390" }, { "coordinates": [ { "allele": "A", "end": 3480, "referenceAllele": "G", "start": 3479 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130987.2:c.3336G>A" ], "proteinEffect": { "hgvs": "NP_001124459.1:p.Trp1112Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS663608", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000410020.8:c.3336G>A" }, "RefSeq": { "hgvs": "NM_001130987.2:c.3336G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000386881.3:p.Trp1112Ter" }, "RefSeq": { "hgvs": "NP_001124459.1:p.Trp1112Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825694397", "coordinates": [ { "allele": "A", "end": 3429, "referenceAllele": "G", "start": 3428 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130455.2:c.3285G>A" ], "proteinEffect": { "hgvs": "NP_001123927.1:p.Trp1095Ter", "hgvsWellDefined": "NP_001123927.1:p.Trp1095_Ser2081delinsArgArgArgMetGluProLeuGluLysThrGlyProAlaAlaValPheAlaLeuGluGlyAlaLeuGlyGlyValMetAspAspLysSerGluAspSerMetSerValSerThrLeuSerPheGlyValAsnArgProThrIleSerCysIlePheAspTyrGlyAsnArgTyrHisLeuArgCysTyrMetTyrGlnAlaArgAspLeuAlaAlaMetAspLysAspSerPheSerAspProTyrAlaIleValSerPheLeuHisGlnSerGlnLysThrValValValLysAsnThrLeuAsnProThrTrpAspGlnThrLeuIlePheTyrGluIleGluIlePheGlyGluProAlaThrValAlaGluGlnProProSerIleValValGluLeuTyrAspHisAspThrTyrGlyAlaAspGluPheMetGlyArgCysIleCysGlnProSerLeuGluArgMetProArgLeuAlaTrpPheProLeuThrArgGlySerGlnProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677114" }, { "@id": "http://reg.genome.network/allele/PA2825747883", "coordinates": [ { "allele": "A", "end": 3678, "referenceAllele": "G", "start": 3677 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130976.2:c.3240G>A" ], "proteinEffect": { "hgvs": "NP_001124448.1:p.Trp1080Ter", "hgvsWellDefined": "NP_001124448.1:p.Trp1080_Ser2066delinsArgArgArgMetGluProLeuGluLysThrGlyProAlaAlaValPheAlaLeuGluGlyAlaLeuGlyGlyValMetAspAspLysSerGluAspSerMetSerValSerThrLeuSerPheGlyValAsnArgProThrIleSerCysIlePheAspTyrGlyAsnArgTyrHisLeuArgCysTyrMetTyrGlnAlaArgAspLeuAlaAlaMetAspLysAspSerPheSerAspProTyrAlaIleValSerPheLeuHisGlnSerGlnLysThrValValValLysAsnThrLeuAsnProThrTrpAspGlnThrLeuIlePheTyrGluIleGluIlePheGlyGluProAlaThrValAlaGluGlnProProSerIleValValGluLeuTyrAspHisAspThrTyrGlyAlaAspGluPheMetGlyArgCysIleCysGlnProSerLeuGluArgMetProArgLeuAlaTrpPheProLeuThrArgGlySerGlnProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677174" }, { "coordinates": [ { "allele": "A", "end": 3678, "referenceAllele": "G", "start": 3677 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130977.2:c.3240G>A" ], "proteinEffect": { "hgvs": "NP_001124449.1:p.Trp1080Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS677175" }, { "coordinates": [ { "allele": "A", "end": 3720, "referenceAllele": "G", "start": 3719 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130978.2:c.3282G>A" ], "proteinEffect": { "hgvs": "NP_001124450.1:p.Trp1094Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS677176" }, { "@id": "http://reg.genome.network/allele/PA2825754685", "coordinates": [ { "allele": "A", "end": 3813, "referenceAllele": "G", "start": 3812 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130979.2:c.3375G>A" ], "proteinEffect": { "hgvs": "NP_001124451.1:p.Trp1125Ter", "hgvsWellDefined": "NP_001124451.1:p.Trp1125_Ser2111delinsArgArgArgMetGluProLeuGluLysThrGlyProAlaAlaValPheAlaLeuGluGlyAlaLeuGlyGlyValMetAspAspLysSerGluAspSerMetSerValSerThrLeuSerPheGlyValAsnArgProThrIleSerCysIlePheAspTyrGlyAsnArgTyrHisLeuArgCysTyrMetTyrGlnAlaArgAspLeuAlaAlaMetAspLysAspSerPheSerAspProTyrAlaIleValSerPheLeuHisGlnSerGlnLysThrValValValLysAsnThrLeuAsnProThrTrpAspGlnThrLeuIlePheTyrGluIleGluIlePheGlyGluProAlaThrValAlaGluGlnProProSerIleValValGluLeuTyrAspHisAspThrTyrGlyAlaAspGluPheMetGlyArgCysIleCysGlnProSerLeuGluArgMetProArgLeuAlaTrpPheProLeuThrArgGlySerGlnProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677177" }, { "@id": "http://reg.genome.network/allele/PA2825756951", "coordinates": [ { "allele": "A", "end": 3771, "referenceAllele": "G", "start": 3770 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130980.2:c.3333G>A" ], "proteinEffect": { "hgvs": "NP_001124452.1:p.Trp1111Ter", "hgvsWellDefined": "NP_001124452.1:p.Trp1111_Ser2097delinsArgArgArgMetGluProLeuGluLysThrGlyProAlaAlaValPheAlaLeuGluGlyAlaLeuGlyGlyValMetAspAspLysSerGluAspSerMetSerValSerThrLeuSerPheGlyValAsnArgProThrIleSerCysIlePheAspTyrGlyAsnArgTyrHisLeuArgCysTyrMetTyrGlnAlaArgAspLeuAlaAlaMetAspLysAspSerPheSerAspProTyrAlaIleValSerPheLeuHisGlnSerGlnLysThrValValValLysAsnThrLeuAsnProThrTrpAspGlnThrLeuIlePheTyrGluIleGluIlePheGlyGluProAlaThrValAlaGluGlnProProSerIleValValGluLeuTyrAspHisAspThrTyrGlyAlaAspGluPheMetGlyArgCysIleCysGlnProSerLeuGluArgMetProArgLeuAlaTrpPheProLeuThrArgGlySerGlnProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677178" }, { "coordinates": [ { "allele": "A", "end": 3771, "referenceAllele": "G", "start": 3770 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130981.2:c.3333G>A" ], "proteinEffect": { "hgvs": "NP_001124453.1:p.Trp1111Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS677179" }, { "@id": "http://reg.genome.network/allele/PA2580152686", "coordinates": [ { "allele": "A", "end": 3522, "referenceAllele": "G", "start": 3521 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130982.2:c.3378G>A" ], "proteinEffect": { "hgvs": "NP_001124454.1:p.Trp1126Ter", "hgvsWellDefined": "NP_001124454.1:p.Trp1126_Ser2112delinsArgArgArgMetGluProLeuGluLysThrGlyProAlaAlaValPheAlaLeuGluGlyAlaLeuGlyGlyValMetAspAspLysSerGluAspSerMetSerValSerThrLeuSerPheGlyValAsnArgProThrIleSerCysIlePheAspTyrGlyAsnArgTyrHisLeuArgCysTyrMetTyrGlnAlaArgAspLeuAlaAlaMetAspLysAspSerPheSerAspProTyrAlaIleValSerPheLeuHisGlnSerGlnLysThrValValValLysAsnThrLeuAsnProThrTrpAspGlnThrLeuIlePheTyrGluIleGluIlePheGlyGluProAlaThrValAlaGluGlnProProSerIleValValGluLeuTyrAspHisAspThrTyrGlyAlaAspGluPheMetGlyArgCysIleCysGlnProSerLeuGluArgMetProArgLeuAlaTrpPheProLeuThrArgGlySerGlnProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677180" }, { "coordinates": [ { "allele": "A", "end": 3429, "referenceAllele": "G", "start": 3428 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130983.2:c.3285G>A" ], "proteinEffect": { "hgvs": "NP_001124455.1:p.Trp1095Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS677181" }, { "coordinates": [ { "allele": "A", "end": 3387, "referenceAllele": "G", "start": 3386 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130984.2:c.3243G>A" ], "proteinEffect": { "hgvs": "NP_001124456.1:p.Trp1081Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS677182" }, { "@id": "http://reg.genome.network/allele/PA2825767588", "coordinates": [ { "allele": "A", "end": 3480, "referenceAllele": "G", "start": 3479 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130985.2:c.3336G>A" ], "proteinEffect": { "hgvs": "NP_001124457.1:p.Trp1112Ter", "hgvsWellDefined": "NP_001124457.1:p.Trp1112_Ser2098delinsArgArgArgMetGluProLeuGluLysThrGlyProAlaAlaValPheAlaLeuGluGlyAlaLeuGlyGlyValMetAspAspLysSerGluAspSerMetSerValSerThrLeuSerPheGlyValAsnArgProThrIleSerCysIlePheAspTyrGlyAsnArgTyrHisLeuArgCysTyrMetTyrGlnAlaArgAspLeuAlaAlaMetAspLysAspSerPheSerAspProTyrAlaIleValSerPheLeuHisGlnSerGlnLysThrValValValLysAsnThrLeuAsnProThrTrpAspGlnThrLeuIlePheTyrGluIleGluIlePheGlyGluProAlaThrValAlaGluGlnProProSerIleValValGluLeuTyrAspHisAspThrTyrGlyAlaAspGluPheMetGlyArgCysIleCysGlnProSerLeuGluArgMetProArgLeuAlaTrpPheProLeuThrArgGlySerGlnProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677183" }, { "@id": "http://reg.genome.network/allele/PA2825769805", "coordinates": [ { "allele": "A", "end": 3387, "referenceAllele": "G", "start": 3386 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130986.2:c.3243G>A" ], "proteinEffect": { "hgvs": "NP_001124458.1:p.Trp1081Ter", "hgvsWellDefined": "NP_001124458.1:p.Trp1081_Ser2067delinsArgArgArgMetGluProLeuGluLysThrGlyProAlaAlaValPheAlaLeuGluGlyAlaLeuGlyGlyValMetAspAspLysSerGluAspSerMetSerValSerThrLeuSerPheGlyValAsnArgProThrIleSerCysIlePheAspTyrGlyAsnArgTyrHisLeuArgCysTyrMetTyrGlnAlaArgAspLeuAlaAlaMetAspLysAspSerPheSerAspProTyrAlaIleValSerPheLeuHisGlnSerGlnLysThrValValValLysAsnThrLeuAsnProThrTrpAspGlnThrLeuIlePheTyrGluIleGluIlePheGlyGluProAlaThrValAlaGluGlnProProSerIleValValGluLeuTyrAspHisAspThrTyrGlyAlaAspGluPheMetGlyArgCysIleCysGlnProSerLeuGluArgMetProArgLeuAlaTrpPheProLeuThrArgGlySerGlnProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677184" }, { "@id": "http://reg.genome.network/allele/PA2829467361", "coordinates": [ { "allele": "A", "end": 3720, "referenceAllele": "G", "start": 3719 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_003494.4:c.3282G>A" ], "proteinEffect": { "hgvs": "NP_003485.1:p.Trp1094Ter", "hgvsWellDefined": "NP_003485.1:p.Trp1094_Ser2080delinsArgArgArgMetGluProLeuGluLysThrGlyProAlaAlaValPheAlaLeuGluGlyAlaLeuGlyGlyValMetAspAspLysSerGluAspSerMetSerValSerThrLeuSerPheGlyValAsnArgProThrIleSerCysIlePheAspTyrGlyAsnArgTyrHisLeuArgCysTyrMetTyrGlnAlaArgAspLeuAlaAlaMetAspLysAspSerPheSerAspProTyrAlaIleValSerPheLeuHisGlnSerGlnLysThrValValValLysAsnThrLeuAsnProThrTrpAspGlnThrLeuIlePheTyrGluIleGluIlePheGlyGluProAlaThrValAlaGluGlnProProSerIleValValGluLeuTyrAspHisAspThrTyrGlyAlaAspGluPheMetGlyArgCysIleCysGlnProSerLeuGluArgMetProArgLeuAlaTrpPheProLeuThrArgGlySerGlnProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695850", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000258104.8:c.3282G>A" }, "RefSeq": { "hgvs": "NM_003494.4:c.3282G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000258104.3:p.Trp1094Ter" }, "RefSeq": { "hgvs": "NP_003485.1:p.Trp1094Ter" } } } } ], "type": "nucleotide" }