{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA1706954", "communityStandardTitle": [ "NM_001130987.2(DYSF):c.4282C>T (p.Gln1428Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=269390[alleleid]", "alleleId": 269390, "preferredName": "NM_001130987.2(DYSF):c.4282C>T (p.Gln1428Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/285153", "RCV": [ "RCV000272470", "RCV000984261", "RCV001382219" ], "variationId": 285153 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/2-71839831-C-T", "id": "2-71839831-C-T", "variant": "2:71839831 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.71839831C>T?assembly=hg19", "id": "chr2:g.71839831C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.71612701C>T?assembly=hg38", "id": "chr2:g.71612701C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/769721856", "rs": 769721856 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-71839831-C-T?dataset=gnomad_r2_1", "id": "2-71839831-C-T", "variant": "2:71839831 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-71612701-C-T?dataset=gnomad_r3", "id": "2-71612701-C-T", "variant": "2:71612701 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-71612701-C-T?dataset=gnomad_r4", "id": "2-71612701-C-T", "variant": "2:71612701 C / T" } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 71612701, "referenceAllele": "C", "start": 71612700 } ], "hgvs": [ "NC_000002.12:g.71612701C>T", "CM000664.2:g.71612701C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 71839831, "referenceAllele": "C", "start": 71839830 } ], "hgvs": [ 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}, "referenceSequence": "http://reg.genome.network/refseq/RS754364", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000410020.8:c.4282C>T" }, "RefSeq": { "hgvs": "NM_001130987.2:c.4282C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000386881.3:p.Gln1428Ter" }, "RefSeq": { "hgvs": "NP_001124459.1:p.Gln1428Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 4505, "referenceAllele": "C", "start": 4504 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000258104.7:c.4228C>T" ], "proteinEffect": { "hgvs": "ENSP00000258104.3:p.Gln1410Ter", "hgvsWellDefined": "ENSP00000258104.3:p.Gln1410_Ser2080delinsPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS250344" }, { "coordinates": [ { "allele": "T", "end": 4372, "referenceAllele": "C", "start": 4371 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000394120.6:c.4231C>T" ], "proteinEffect": { "hgvs": "ENSP00000377678.2:p.Gln1411Ter", "hgvsWellDefined": "ENSP00000377678.2:p.Gln1411_Ser2081delinsPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS275989" }, { "coordinates": [ { "allele": "T", "end": 4372, "referenceAllele": "C", "start": 4371 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000409366.5:c.4231C>T" ], "proteinEffect": { "hgvs": "ENSP00000386512.1:p.Gln1411Ter", "hgvsWellDefined": "ENSP00000386512.1:p.Gln1411_Ser2102delinsPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS281485" }, { "coordinates": [ { "allele": "T", "end": 4556, "referenceAllele": "C", "start": 4555 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000409582.7:c.4279C>T" ], "proteinEffect": { "hgvs": "ENSP00000386547.3:p.Gln1427Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS281674" }, { "coordinates": [ { "allele": "T", "end": 4465, "referenceAllele": "C", "start": 4464 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000409651.5:c.4324C>T" ], "proteinEffect": { "hgvs": "ENSP00000386683.1:p.Gln1442Ter", "hgvsWellDefined": "ENSP00000386683.1:p.Gln1442_Ser2112delinsPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS281733" }, { "coordinates": [ { "allele": "T", "end": 4330, "referenceAllele": "C", "start": 4329 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000409744.5:c.4189C>T" ], "proteinEffect": { "hgvs": "ENSP00000386285.1:p.Gln1397Ter", "hgvsWellDefined": "ENSP00000386285.1:p.Gln1397_Ser2088delinsPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS281812" }, { "coordinates": [ { "allele": "T", "end": 4556, "referenceAllele": "C", "start": 4555 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000409762.5:c.4279C>T" ], "proteinEffect": { "hgvs": "ENSP00000387137.1:p.Gln1427Ter", "hgvsWellDefined": "ENSP00000387137.1:p.Gln1427_Ser2097delinsPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS281827" }, { "coordinates": [ { "allele": "T", "end": 4423, "referenceAllele": "C", "start": 4422 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000410020.7:c.4282C>T" ], "proteinEffect": { "hgvs": "ENSP00000386881.3:p.Gln1428Ter", "hgvsWellDefined": "ENSP00000386881.3:p.Gln1428_Ser2119delinsPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS282050" }, { "coordinates": [ { "allele": "T", "end": 4423, "referenceAllele": "C", "start": 4422 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000410041.1:c.4282C>T" ], "proteinEffect": { "hgvs": "ENSP00000386617.1:p.Gln1428Ter", "hgvsWellDefined": "ENSP00000386617.1:p.Gln1428_Ser2098delinsPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS282070" }, { "coordinates": [ { "allele": "T", "end": 4598, "referenceAllele": "C", "start": 4597 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000413539.6:c.4321C>T" ], "proteinEffect": { "hgvs": "ENSP00000407046.2:p.Gln1441Ter", "hgvsWellDefined": "ENSP00000407046.2:p.Gln1441_Ser2111delinsPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS283111" }, { "coordinates": [ { "allele": "T", "end": 4505, "referenceAllele": "C", "start": 4504 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000429174.6:c.4228C>T" ], "proteinEffect": { "hgvs": "ENSP00000398305.2:p.Gln1410Ter", "hgvsWellDefined": "ENSP00000398305.2:p.Gln1410_Ser2101delinsPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS290540" }, { "coordinates": [ { "allele": "T", "end": 464, "referenceAllele": "C", "start": 463 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000468173.1:n.464C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS311148" }, { "coordinates": [ { "allele": "T", "end": 1113, "referenceAllele": "C", "start": 1112 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000479049.6:n.1113C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS319515" }, { "coordinates": [ { "allele": "T", "end": 447, "referenceAllele": "C", "start": 446 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000487180.5:n.447C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS325806" }, { "coordinates": [ { "allele": "T", "end": 526, "referenceAllele": "C", "start": 525 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000494501.5:n.526C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS331408" }, { "@id": "http://reg.genome.network/allele/PA2825694898", "coordinates": [ { "allele": "T", "end": 4372, "referenceAllele": "C", "start": 4371 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130455.1:c.4231C>T" ], "proteinEffect": { "hgvs": "NP_001123927.1:p.Gln1411Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS012028" }, { "@id": "http://reg.genome.network/allele/PA2825748232", "coordinates": [ { "allele": "T", "end": 4562, "referenceAllele": "C", "start": 4561 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130976.1:c.4186C>T" ], "proteinEffect": { "hgvs": "NP_001124448.1:p.Gln1396Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS012145" }, { "@id": "http://reg.genome.network/allele/PA2825750491", "coordinates": [ { "allele": "T", "end": 4562, "referenceAllele": "C", "start": 4561 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130977.1:c.4186C>T" ], "proteinEffect": { "hgvs": "NP_001124449.1:p.Gln1396Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS012146" }, { "@id": "http://reg.genome.network/allele/PA2825752757", "coordinates": [ { "allele": "T", "end": 4604, "referenceAllele": "C", "start": 4603 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130978.1:c.4228C>T" ], "proteinEffect": { "hgvs": "NP_001124450.1:p.Gln1410Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS012147" }, { "@id": "http://reg.genome.network/allele/PA2825755034", "coordinates": [ { "allele": "T", "end": 4697, "referenceAllele": "C", "start": 4696 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130979.1:c.4321C>T" ], "proteinEffect": { "hgvs": "NP_001124451.1:p.Gln1441Ter", "hgvsWellDefined": "NP_001124451.1:p.Gln1441_Ser2111delinsPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012148" }, { "@id": "http://reg.genome.network/allele/PA2825757299", "coordinates": [ { "allele": "T", "end": 4655, "referenceAllele": "C", "start": 4654 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130980.1:c.4279C>T" ], "proteinEffect": { "hgvs": "NP_001124452.1:p.Gln1427Ter", "hgvsWellDefined": "NP_001124452.1:p.Gln1427_Ser2097delinsPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012149" }, { "@id": "http://reg.genome.network/allele/PA2825759563", "coordinates": [ { "allele": "T", "end": 4655, "referenceAllele": "C", "start": 4654 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130981.1:c.4279C>T" ], "proteinEffect": { "hgvs": "NP_001124453.1:p.Gln1427Ter", "hgvsWellDefined": "NP_001124453.1:p.Gln1427_Ser2118delinsPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012150" }, { "@id": "http://reg.genome.network/allele/PA915974196", "coordinates": [ { "allele": "T", "end": 4465, "referenceAllele": "C", "start": 4464 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130982.1:c.4324C>T" ], "proteinEffect": { "hgvs": "NP_001124454.1:p.Gln1442Ter", "hgvsWellDefined": "NP_001124454.1:p.Gln1442_Ser2112delinsPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012151" }, { "@id": "http://reg.genome.network/allele/PA2825763457", "coordinates": [ { "allele": "T", "end": 4372, "referenceAllele": "C", "start": 4371 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130983.1:c.4231C>T" ], "proteinEffect": { "hgvs": "NP_001124455.1:p.Gln1411Ter", "hgvsWellDefined": "NP_001124455.1:p.Gln1411_Ser2102delinsPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012152" }, { "@id": "http://reg.genome.network/allele/PA2825765695", "coordinates": [ { "allele": "T", "end": 4330, "referenceAllele": "C", "start": 4329 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130984.1:c.4189C>T" ], "proteinEffect": { "hgvs": "NP_001124456.1:p.Gln1397Ter", "hgvsWellDefined": "NP_001124456.1:p.Gln1397_Ser2088delinsPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012153" }, { "@id": "http://reg.genome.network/allele/PA2825767935", "coordinates": [ { "allele": "T", "end": 4423, "referenceAllele": "C", "start": 4422 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130985.1:c.4282C>T" ], "proteinEffect": { "hgvs": "NP_001124457.1:p.Gln1428Ter", "hgvsWellDefined": "NP_001124457.1:p.Gln1428_Ser2098delinsPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012154" }, { "@id": "http://reg.genome.network/allele/PA2825770155", "coordinates": [ { "allele": "T", "end": 4330, "referenceAllele": "C", "start": 4329 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130986.1:c.4189C>T" ], "proteinEffect": { "hgvs": "NP_001124458.1:p.Gln1397Ter", "hgvsWellDefined": "NP_001124458.1:p.Gln1397_Ser2067delinsPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012155" }, { "@id": "http://reg.genome.network/allele/PA645477717", "coordinates": [ { "allele": "T", "end": 4423, "referenceAllele": "C", "start": 4422 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130987.1:c.4282C>T" ], "proteinEffect": { "hgvs": "NP_001124459.1:p.Gln1428Ter", "hgvsWellDefined": "NP_001124459.1:p.Gln1428_Ser2119delinsPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012156" }, { "@id": "http://reg.genome.network/allele/PA2829467890", "coordinates": [ { "allele": "T", "end": 4604, "referenceAllele": "C", "start": 4603 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_003494.3:c.4228C>T" ], "proteinEffect": { "hgvs": "NP_003485.1:p.Gln1410Ter", "hgvsWellDefined": "NP_003485.1:p.Gln1410_Ser2080delinsPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS028733" }, { "coordinates": [ { "allele": "T", "end": 4464, "referenceAllele": "C", "start": 4463 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "XM_005264584.3:c.4324C>T" ], "proteinEffect": { "hgvs": "XP_005264641.1:p.Gln1442Ter", "hgvsWellDefined": "XP_005264641.1:p.Gln1442_Ser2133delinsPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064299" }, { "coordinates": [ { "allele": "T", "end": 5201, "referenceAllele": "C", "start": 5200 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "XM_005264585.3:c.4321C>T" ], "proteinEffect": { "hgvs": "XP_005264642.1:p.Gln1441Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS064300" }, { "coordinates": [ { "allele": "T", "end": 4480, "referenceAllele": "C", "start": 4479 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "XM_005264584.4:c.4324C>T" ], "proteinEffect": { "hgvs": "XP_005264641.1:p.Gln1442Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS535912" }, { "coordinates": [ { "allele": "T", "end": 5166, "referenceAllele": "C", "start": 5165 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "XM_005264585.5:c.4321C>T" ], "proteinEffect": { "hgvs": "XP_005264642.1:p.Gln1441Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS535913" }, { "coordinates": [ { "allele": "T", "end": 4482, "referenceAllele": "C", "start": 4481 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "XR_001738969.1:n.4482C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS589390" }, { "@id": "http://reg.genome.network/allele/PA645477717", "coordinates": [ { "allele": "T", "end": 4426, "referenceAllele": "C", "start": 4425 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130987.2:c.4282C>T" ], "proteinEffect": { "hgvs": "NP_001124459.1:p.Gln1428Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS663608", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000410020.8:c.4282C>T" }, "RefSeq": { "hgvs": "NM_001130987.2:c.4282C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000386881.3:p.Gln1428Ter" }, "RefSeq": { "hgvs": "NP_001124459.1:p.Gln1428Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825694898", "coordinates": [ { "allele": "T", "end": 4375, "referenceAllele": "C", "start": 4374 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130455.2:c.4231C>T" ], "proteinEffect": { "hgvs": "NP_001123927.1:p.Gln1411Ter", "hgvsWellDefined": "NP_001123927.1:p.Gln1411_Ser2081delinsPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677114" }, { "@id": "http://reg.genome.network/allele/PA2825748232", "coordinates": [ { "allele": "T", "end": 4624, "referenceAllele": "C", "start": 4623 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130976.2:c.4186C>T" ], "proteinEffect": { "hgvs": "NP_001124448.1:p.Gln1396Ter", "hgvsWellDefined": "NP_001124448.1:p.Gln1396_Ser2066delinsPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677174" }, { "@id": "http://reg.genome.network/allele/PA2825750491", "coordinates": [ { "allele": "T", "end": 4624, "referenceAllele": "C", "start": 4623 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130977.2:c.4186C>T" ], "proteinEffect": { "hgvs": "NP_001124449.1:p.Gln1396Ter", "hgvsWellDefined": "NP_001124449.1:p.Gln1396_Ser2087delinsPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677175" }, { "@id": "http://reg.genome.network/allele/PA2825752757", "coordinates": [ { "allele": "T", "end": 4666, "referenceAllele": "C", "start": 4665 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130978.2:c.4228C>T" ], "proteinEffect": { "hgvs": "NP_001124450.1:p.Gln1410Ter", "hgvsWellDefined": "NP_001124450.1:p.Gln1410_Ser2101delinsPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677176" }, { "@id": "http://reg.genome.network/allele/PA2825755034", "coordinates": [ { "allele": "T", "end": 4759, "referenceAllele": "C", "start": 4758 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130979.2:c.4321C>T" ], "proteinEffect": { "hgvs": "NP_001124451.1:p.Gln1441Ter", "hgvsWellDefined": "NP_001124451.1:p.Gln1441_Ser2111delinsPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677177" }, { "@id": "http://reg.genome.network/allele/PA2825757299", "coordinates": [ { "allele": "T", "end": 4717, "referenceAllele": "C", "start": 4716 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130980.2:c.4279C>T" ], "proteinEffect": { "hgvs": "NP_001124452.1:p.Gln1427Ter", "hgvsWellDefined": "NP_001124452.1:p.Gln1427_Ser2097delinsPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677178" }, { "@id": "http://reg.genome.network/allele/PA2825759563", "coordinates": [ { "allele": "T", "end": 4717, "referenceAllele": "C", "start": 4716 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130981.2:c.4279C>T" ], "proteinEffect": { "hgvs": "NP_001124453.1:p.Gln1427Ter", "hgvsWellDefined": "NP_001124453.1:p.Gln1427_Ser2118delinsPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677179" }, { "@id": "http://reg.genome.network/allele/PA915974196", "coordinates": [ { "allele": "T", "end": 4468, "referenceAllele": "C", "start": 4467 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130982.2:c.4324C>T" ], "proteinEffect": { "hgvs": "NP_001124454.1:p.Gln1442Ter", "hgvsWellDefined": "NP_001124454.1:p.Gln1442_Ser2112delinsPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677180" }, { "@id": "http://reg.genome.network/allele/PA2825763457", "coordinates": [ { "allele": "T", "end": 4375, "referenceAllele": "C", "start": 4374 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130983.2:c.4231C>T" ], "proteinEffect": { "hgvs": "NP_001124455.1:p.Gln1411Ter", "hgvsWellDefined": "NP_001124455.1:p.Gln1411_Ser2102delinsPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677181" }, { "@id": "http://reg.genome.network/allele/PA2825765695", "coordinates": [ { "allele": "T", "end": 4333, "referenceAllele": "C", "start": 4332 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130984.2:c.4189C>T" ], "proteinEffect": { "hgvs": "NP_001124456.1:p.Gln1397Ter", "hgvsWellDefined": "NP_001124456.1:p.Gln1397_Ser2088delinsPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677182" }, { "@id": "http://reg.genome.network/allele/PA2825767935", "coordinates": [ { "allele": "T", "end": 4426, "referenceAllele": "C", "start": 4425 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130985.2:c.4282C>T" ], "proteinEffect": { "hgvs": "NP_001124457.1:p.Gln1428Ter", "hgvsWellDefined": "NP_001124457.1:p.Gln1428_Ser2098delinsPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677183" }, { "@id": "http://reg.genome.network/allele/PA2825770155", "coordinates": [ { "allele": "T", "end": 4333, "referenceAllele": "C", "start": 4332 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130986.2:c.4189C>T" ], "proteinEffect": { "hgvs": "NP_001124458.1:p.Gln1397Ter", "hgvsWellDefined": "NP_001124458.1:p.Gln1397_Ser2067delinsPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677184" }, { "@id": "http://reg.genome.network/allele/PA2829467890", "coordinates": [ { "allele": "T", "end": 4666, "referenceAllele": "C", "start": 4665 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_003494.4:c.4228C>T" ], "proteinEffect": { "hgvs": "NP_003485.1:p.Gln1410Ter", "hgvsWellDefined": "NP_003485.1:p.Gln1410_Ser2080delinsPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695850", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000258104.8:c.4228C>T" }, "RefSeq": { "hgvs": "NM_003494.4:c.4228C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000258104.3:p.Gln1410Ter" }, "RefSeq": { "hgvs": "NP_003485.1:p.Gln1410Ter" } } } } ], "type": "nucleotide" }