{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA10603799", "communityStandardTitle": [ "NM_001130987.2(DYSF):c.3532C>T (p.Gln1178Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=265300[alleleid]", "alleleId": 265300, "preferredName": "NM_001130987.2(DYSF):c.3532C>T (p.Gln1178Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/281063", "RCV": [ "RCV000518638", "RCV001247365", "RCV001828174", "RCV003469217" ], "variationId": 281063 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.71817376C>T?assembly=hg19", "id": "chr2:g.71817376C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.71590246C>T?assembly=hg38", "id": "chr2:g.71590246C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/886042091", "rs": 886042091 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-71817376-C-T?dataset=gnomad_r2_1", "id": "2-71817376-C-T", "variant": "2:71817376 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-71590246-C-T?dataset=gnomad_r3", "id": "2-71590246-C-T", "variant": "2:71590246 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-71590246-C-T?dataset=gnomad_r4", "id": "2-71590246-C-T", "variant": "2:71590246 C / T" } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 71590246, "referenceAllele": "C", "start": 71590245 } ], "hgvs": [ "NC_000002.12:g.71590246C>T", "CM000664.2:g.71590246C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 71817376, "referenceAllele": "C", "start": 71817375 } ], "hgvs": [ "NC_000002.11:g.71817376C>T", "CM000664.1:g.71817376C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 71670884, "referenceAllele": "C", "start": 71670883 } ], "hgvs": [ "NC_000002.10:g.71670884C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "T", "end": 141624, "referenceAllele": "C", "start": 141623 } ], "hgvs": [ "NG_008694.1:g.141624C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001172" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 904, "referenceAllele": "C", "start": 903 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000698057.1:c.904C>T" ], "proteinEffect": { "hgvs": "ENSP00000513536.1:p.Gln302Ter", "hgvsWellDefined": "ENSP00000513536.1:p.Gln302_Ser1257delinsAlaArgAspLeuAlaAlaMetAspLysAspSerPheSerAspProTyrAlaIleValSerPheLeuHisGlnSerGlnLysThrValValValLysAsnThrLeuAsnProThrTrpAspGlnThrLeuIlePheTyrGluIleGluIlePheGlyGluProAlaThrValAlaGluGlnProProSerIleValValGluLeuTyrAspHisAspThrTyrGlyAlaAspGluPheMetGlyArgCysIleCysGlnProSerLeuGluArgMetProArgLeuAlaTrpPheProLeuThrArgGlySerGlnProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluLeuCysAlaProAlaPhePheLeuGlnGlyLeuLeuGlnThrSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS909126" }, { "coordinates": [ { "allele": "T", "end": 312, "referenceAllele": "C", "start": 311 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000698058.1:c.121C>T" ], "proteinEffect": { "hgvs": "ENSP00000513537.1:p.Gln41Ter", "hgvsWellDefined": "ENSP00000513537.1:p.Gln41_Ser996delinsAlaArgAspLeuAlaAlaMetAspLysAspSerPheSerAspProTyrAlaIleValSerPheLeuHisGlnSerGlnLysThrValValValLysAsnThrLeuAsnProThrTrpAspGlnThrLeuIlePheTyrGluIleGluIlePheGlyGluProAlaThrValAlaGluGlnProProSerIleValValGluLeuTyrAspHisAspThrTyrGlyAlaAspGluPheMetGlyArgCysIleCysGlnProSerLeuGluArgMetProArgLeuAlaTrpPheProLeuThrArgGlySerGlnProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluLeuCysAlaProAlaPhePheLeuGlnGlyLeuLeuGlnThrSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS909127" }, { "coordinates": [ { "allele": "T", "end": 312, "referenceAllele": "C", "start": 311 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000698059.1:c.121C>T" ], "proteinEffect": { "hgvs": "ENSP00000513538.1:p.Gln41Ter", "hgvsWellDefined": "ENSP00000513538.1:p.Gln41_Ser1032delinsAlaArgAspLeuAlaAlaMetAspLysAspSerPheSerAspProTyrAlaIleValSerPheLeuHisGlnSerGlnLysThrValValValLysAsnThrLeuAsnProThrTrpAspGlnThrLeuIlePheTyrGluIleGluIlePheGlyGluProAlaThrValAlaGluGlnProProSerIleValValGluLeuTyrAspHisAspThrTyrGlyAlaAspGluPheMetGlyArgCysIleCysGlnProSerLeuGluArgMetProArgLeuAlaTrpPheProLeuThrArgGlySerGlnProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisCysSerLysAspAlaGlyLysGluGlyLeuGlyLeuProCysSerLysLeuAlaPheSerArgValValThrSerGlnLysAlaLeuProCysCysThrLeuProHisLeuThrLeuPheProLeuSerTrpLeuGlnLysThrLeuArgGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS909128" }, { "coordinates": [ { "allele": "T", "end": 3916, "referenceAllele": "C", "start": 3915 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000258104.8:c.3478C>T" ], "proteinEffect": { "hgvs": "ENSP00000258104.3:p.Gln1160Ter", "hgvsWellDefined": "ENSP00000258104.3:p.Gln1160_Ser2080delinsAlaArgAspLeuAlaAlaMetAspLysAspSerPheSerAspProTyrAlaIleValSerPheLeuHisGlnSerGlnLysThrValValValLysAsnThrLeuAsnProThrTrpAspGlnThrLeuIlePheTyrGluIleGluIlePheGlyGluProAlaThrValAlaGluGlnProProSerIleValValGluLeuTyrAspHisAspThrTyrGlyAlaAspGluPheMetGlyArgCysIleCysGlnProSerLeuGluArgMetProArgLeuAlaTrpPheProLeuThrArgGlySerGlnProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS823608", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000258104.8:c.3478C>T" }, "RefSeq": { "hgvs": "NM_003494.4:c.3478C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000258104.3:p.Gln1160Ter" }, "RefSeq": { "hgvs": "NP_003485.1:p.Gln1160Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 3676, "referenceAllele": "C", "start": 3675 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000410020.8:c.3532C>T" ], "proteinEffect": { "hgvs": "ENSP00000386881.3:p.Gln1178Ter", "hgvsWellDefined": "ENSP00000386881.3:p.Gln1178_Ser2119delinsAlaArgAspLeuAlaAlaMetAspLysAspSerPheSerAspProTyrAlaIleValSerPheLeuHisGlnSerGlnLysThrValValValLysAsnThrLeuAsnProThrTrpAspGlnThrLeuIlePheTyrGluIleGluIlePheGlyGluProAlaThrValAlaGluGlnProProSerIleValValGluLeuTyrAspHisAspThrTyrGlyAlaAspGluPheMetGlyArgCysIleCysGlnProSerLeuGluArgMetProArgLeuAlaTrpPheProLeuThrArgGlySerGlnProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS754364", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000410020.8:c.3532C>T" }, "RefSeq": { "hgvs": "NM_001130987.2:c.3532C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000386881.3:p.Gln1178Ter" }, "RefSeq": { "hgvs": "NP_001124459.1:p.Gln1178Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 3755, "referenceAllele": "C", "start": 3754 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000258104.7:c.3478C>T" ], "proteinEffect": { "hgvs": "ENSP00000258104.3:p.Gln1160Ter", "hgvsWellDefined": "ENSP00000258104.3:p.Gln1160_Ser2080delinsAlaArgAspLeuAlaAlaMetAspLysAspSerPheSerAspProTyrAlaIleValSerPheLeuHisGlnSerGlnLysThrValValValLysAsnThrLeuAsnProThrTrpAspGlnThrLeuIlePheTyrGluIleGluIlePheGlyGluProAlaThrValAlaGluGlnProProSerIleValValGluLeuTyrAspHisAspThrTyrGlyAlaAspGluPheMetGlyArgCysIleCysGlnProSerLeuGluArgMetProArgLeuAlaTrpPheProLeuThrArgGlySerGlnProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS250344" }, { "coordinates": [ { "allele": "T", "end": 3622, "referenceAllele": "C", "start": 3621 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000394120.6:c.3481C>T" ], "proteinEffect": { "hgvs": "ENSP00000377678.2:p.Gln1161Ter", "hgvsWellDefined": "ENSP00000377678.2:p.Gln1161_Ser2081delinsAlaArgAspLeuAlaAlaMetAspLysAspSerPheSerAspProTyrAlaIleValSerPheLeuHisGlnSerGlnLysThrValValValLysAsnThrLeuAsnProThrTrpAspGlnThrLeuIlePheTyrGluIleGluIlePheGlyGluProAlaThrValAlaGluGlnProProSerIleValValGluLeuTyrAspHisAspThrTyrGlyAlaAspGluPheMetGlyArgCysIleCysGlnProSerLeuGluArgMetProArgLeuAlaTrpPheProLeuThrArgGlySerGlnProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS275989" }, { "coordinates": [ { "allele": "T", "end": 3622, "referenceAllele": "C", "start": 3621 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000409366.5:c.3481C>T" ], "proteinEffect": { "hgvs": "ENSP00000386512.1:p.Gln1161Ter", "hgvsWellDefined": "ENSP00000386512.1:p.Gln1161_Ser2102delinsAlaArgAspLeuAlaAlaMetAspLysAspSerPheSerAspProTyrAlaIleValSerPheLeuHisGlnSerGlnLysThrValValValLysAsnThrLeuAsnProThrTrpAspGlnThrLeuIlePheTyrGluIleGluIlePheGlyGluProAlaThrValAlaGluGlnProProSerIleValValGluLeuTyrAspHisAspThrTyrGlyAlaAspGluPheMetGlyArgCysIleCysGlnProSerLeuGluArgMetProArgLeuAlaTrpPheProLeuThrArgGlySerGlnProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS281485" }, { "coordinates": [ { "allele": "T", "end": 3806, "referenceAllele": "C", "start": 3805 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000409582.7:c.3529C>T" ], "proteinEffect": { "hgvs": "ENSP00000386547.3:p.Gln1177Ter", "hgvsWellDefined": "ENSP00000386547.3:p.Gln1177_Ser2118delinsAlaArgAspLeuAlaAlaMetAspLysAspSerPheSerAspProTyrAlaIleValSerPheLeuHisGlnSerGlnLysThrValValValLysAsnThrLeuAsnProThrTrpAspGlnThrLeuIlePheTyrGluIleGluIlePheGlyGluProAlaThrValAlaGluGlnProProSerIleValValGluLeuTyrAspHisAspThrTyrGlyAlaAspGluPheMetGlyArgCysIleCysGlnProSerLeuGluArgMetProArgLeuAlaTrpPheProLeuThrArgGlySerGlnProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS281674" }, { "coordinates": [ { "allele": "T", "end": 3715, "referenceAllele": "C", "start": 3714 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000409651.5:c.3574C>T" ], "proteinEffect": { "hgvs": "ENSP00000386683.1:p.Gln1192Ter", "hgvsWellDefined": "ENSP00000386683.1:p.Gln1192_Ser2112delinsAlaArgAspLeuAlaAlaMetAspLysAspSerPheSerAspProTyrAlaIleValSerPheLeuHisGlnSerGlnLysThrValValValLysAsnThrLeuAsnProThrTrpAspGlnThrLeuIlePheTyrGluIleGluIlePheGlyGluProAlaThrValAlaGluGlnProProSerIleValValGluLeuTyrAspHisAspThrTyrGlyAlaAspGluPheMetGlyArgCysIleCysGlnProSerLeuGluArgMetProArgLeuAlaTrpPheProLeuThrArgGlySerGlnProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS281733" }, { "coordinates": [ { "allele": "T", "end": 3580, "referenceAllele": "C", "start": 3579 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000409744.5:c.3439C>T" ], "proteinEffect": { "hgvs": "ENSP00000386285.1:p.Gln1147Ter", "hgvsWellDefined": "ENSP00000386285.1:p.Gln1147_Ser2088delinsAlaArgAspLeuAlaAlaMetAspLysAspSerPheSerAspProTyrAlaIleValSerPheLeuHisGlnSerGlnLysThrValValValLysAsnThrLeuAsnProThrTrpAspGlnThrLeuIlePheTyrGluIleGluIlePheGlyGluProAlaThrValAlaGluGlnProProSerIleValValGluLeuTyrAspHisAspThrTyrGlyAlaAspGluPheMetGlyArgCysIleCysGlnProSerLeuGluArgMetProArgLeuAlaTrpPheProLeuThrArgGlySerGlnProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS281812" }, { "coordinates": [ { "allele": "T", "end": 3806, "referenceAllele": "C", "start": 3805 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000409762.5:c.3529C>T" ], "proteinEffect": { "hgvs": "ENSP00000387137.1:p.Gln1177Ter", "hgvsWellDefined": "ENSP00000387137.1:p.Gln1177_Ser2097delinsAlaArgAspLeuAlaAlaMetAspLysAspSerPheSerAspProTyrAlaIleValSerPheLeuHisGlnSerGlnLysThrValValValLysAsnThrLeuAsnProThrTrpAspGlnThrLeuIlePheTyrGluIleGluIlePheGlyGluProAlaThrValAlaGluGlnProProSerIleValValGluLeuTyrAspHisAspThrTyrGlyAlaAspGluPheMetGlyArgCysIleCysGlnProSerLeuGluArgMetProArgLeuAlaTrpPheProLeuThrArgGlySerGlnProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS281827" }, { "coordinates": [ { "allele": "T", "end": 3673, "referenceAllele": "C", "start": 3672 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000410020.7:c.3532C>T" ], "proteinEffect": { "hgvs": "ENSP00000386881.3:p.Gln1178Ter", "hgvsWellDefined": "ENSP00000386881.3:p.Gln1178_Ser2119delinsAlaArgAspLeuAlaAlaMetAspLysAspSerPheSerAspProTyrAlaIleValSerPheLeuHisGlnSerGlnLysThrValValValLysAsnThrLeuAsnProThrTrpAspGlnThrLeuIlePheTyrGluIleGluIlePheGlyGluProAlaThrValAlaGluGlnProProSerIleValValGluLeuTyrAspHisAspThrTyrGlyAlaAspGluPheMetGlyArgCysIleCysGlnProSerLeuGluArgMetProArgLeuAlaTrpPheProLeuThrArgGlySerGlnProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS282050" }, { "coordinates": [ { "allele": "T", "end": 3673, "referenceAllele": "C", "start": 3672 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000410041.1:c.3532C>T" ], "proteinEffect": { "hgvs": "ENSP00000386617.1:p.Gln1178Ter", "hgvsWellDefined": "ENSP00000386617.1:p.Gln1178_Ser2098delinsAlaArgAspLeuAlaAlaMetAspLysAspSerPheSerAspProTyrAlaIleValSerPheLeuHisGlnSerGlnLysThrValValValLysAsnThrLeuAsnProThrTrpAspGlnThrLeuIlePheTyrGluIleGluIlePheGlyGluProAlaThrValAlaGluGlnProProSerIleValValGluLeuTyrAspHisAspThrTyrGlyAlaAspGluPheMetGlyArgCysIleCysGlnProSerLeuGluArgMetProArgLeuAlaTrpPheProLeuThrArgGlySerGlnProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS282070" }, { "coordinates": [ { "allele": "T", "end": 3848, "referenceAllele": "C", "start": 3847 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000413539.6:c.3571C>T" ], "proteinEffect": { "hgvs": "ENSP00000407046.2:p.Gln1191Ter", "hgvsWellDefined": "ENSP00000407046.2:p.Gln1191_Ser2111delinsAlaArgAspLeuAlaAlaMetAspLysAspSerPheSerAspProTyrAlaIleValSerPheLeuHisGlnSerGlnLysThrValValValLysAsnThrLeuAsnProThrTrpAspGlnThrLeuIlePheTyrGluIleGluIlePheGlyGluProAlaThrValAlaGluGlnProProSerIleValValGluLeuTyrAspHisAspThrTyrGlyAlaAspGluPheMetGlyArgCysIleCysGlnProSerLeuGluArgMetProArgLeuAlaTrpPheProLeuThrArgGlySerGlnProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS283111" }, { "coordinates": [ { "allele": "T", "end": 3755, "referenceAllele": "C", "start": 3754 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000429174.6:c.3478C>T" ], "proteinEffect": { "hgvs": "ENSP00000398305.2:p.Gln1160Ter", "hgvsWellDefined": "ENSP00000398305.2:p.Gln1160_Ser2101delinsAlaArgAspLeuAlaAlaMetAspLysAspSerPheSerAspProTyrAlaIleValSerPheLeuHisGlnSerGlnLysThrValValValLysAsnThrLeuAsnProThrTrpAspGlnThrLeuIlePheTyrGluIleGluIlePheGlyGluProAlaThrValAlaGluGlnProProSerIleValValGluLeuTyrAspHisAspThrTyrGlyAlaAspGluPheMetGlyArgCysIleCysGlnProSerLeuGluArgMetProArgLeuAlaTrpPheProLeuThrArgGlySerGlnProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS290540" }, { "coordinates": [ { "allele": "T", "end": 306, "referenceAllele": "C", "start": 305 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000475076.5:n.306C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS316438" }, { "coordinates": [ { "allele": "T", "end": 363, "referenceAllele": "C", "start": 362 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000479049.6:n.363C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS319515" }, { "coordinates": [ { "allele": "T", "end": 199, "referenceAllele": "C", "start": 198 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000493767.1:n.199C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS330852" }, { "@id": "http://reg.genome.network/allele/PA2825694517", "coordinates": [ { "allele": "T", "end": 3622, "referenceAllele": "C", "start": 3621 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130455.1:c.3481C>T" ], "proteinEffect": { "hgvs": "NP_001123927.1:p.Gln1161Ter", "hgvsWellDefined": "NP_001123927.1:p.Gln1161_Ser2081delinsAlaArgAspLeuAlaAlaMetAspLysAspSerPheSerAspProTyrAlaIleValSerPheLeuHisGlnSerGlnLysThrValValValLysAsnThrLeuAsnProThrTrpAspGlnThrLeuIlePheTyrGluIleGluIlePheGlyGluProAlaThrValAlaGluGlnProProSerIleValValGluLeuTyrAspHisAspThrTyrGlyAlaAspGluPheMetGlyArgCysIleCysGlnProSerLeuGluArgMetProArgLeuAlaTrpPheProLeuThrArgGlySerGlnProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012028" }, { "@id": "http://reg.genome.network/allele/PA2825747964", "coordinates": [ { "allele": "T", "end": 3812, "referenceAllele": "C", "start": 3811 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130976.1:c.3436C>T" ], "proteinEffect": { "hgvs": "NP_001124448.1:p.Gln1146Ter", "hgvsWellDefined": "NP_001124448.1:p.Gln1146_Ser2066delinsAlaArgAspLeuAlaAlaMetAspLysAspSerPheSerAspProTyrAlaIleValSerPheLeuHisGlnSerGlnLysThrValValValLysAsnThrLeuAsnProThrTrpAspGlnThrLeuIlePheTyrGluIleGluIlePheGlyGluProAlaThrValAlaGluGlnProProSerIleValValGluLeuTyrAspHisAspThrTyrGlyAlaAspGluPheMetGlyArgCysIleCysGlnProSerLeuGluArgMetProArgLeuAlaTrpPheProLeuThrArgGlySerGlnProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012145" }, { "@id": "http://reg.genome.network/allele/PA2825750224", "coordinates": [ { "allele": "T", "end": 3812, "referenceAllele": "C", "start": 3811 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130977.1:c.3436C>T" ], "proteinEffect": { "hgvs": "NP_001124449.1:p.Gln1146Ter", "hgvsWellDefined": "NP_001124449.1:p.Gln1146_Ser2087delinsAlaArgAspLeuAlaAlaMetAspLysAspSerPheSerAspProTyrAlaIleValSerPheLeuHisGlnSerGlnLysThrValValValLysAsnThrLeuAsnProThrTrpAspGlnThrLeuIlePheTyrGluIleGluIlePheGlyGluProAlaThrValAlaGluGlnProProSerIleValValGluLeuTyrAspHisAspThrTyrGlyAlaAspGluPheMetGlyArgCysIleCysGlnProSerLeuGluArgMetProArgLeuAlaTrpPheProLeuThrArgGlySerGlnProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012146" }, { "@id": "http://reg.genome.network/allele/PA2825752492", "coordinates": [ { "allele": "T", "end": 3854, "referenceAllele": "C", "start": 3853 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130978.1:c.3478C>T" ], "proteinEffect": { "hgvs": "NP_001124450.1:p.Gln1160Ter", "hgvsWellDefined": "NP_001124450.1:p.Gln1160_Ser2101delinsAlaArgAspLeuAlaAlaMetAspLysAspSerPheSerAspProTyrAlaIleValSerPheLeuHisGlnSerGlnLysThrValValValLysAsnThrLeuAsnProThrTrpAspGlnThrLeuIlePheTyrGluIleGluIlePheGlyGluProAlaThrValAlaGluGlnProProSerIleValValGluLeuTyrAspHisAspThrTyrGlyAlaAspGluPheMetGlyArgCysIleCysGlnProSerLeuGluArgMetProArgLeuAlaTrpPheProLeuThrArgGlySerGlnProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012147" }, { "@id": "http://reg.genome.network/allele/PA2825754767", "coordinates": [ { "allele": "T", "end": 3947, "referenceAllele": "C", "start": 3946 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130979.1:c.3571C>T" ], "proteinEffect": { "hgvs": "NP_001124451.1:p.Gln1191Ter", "hgvsWellDefined": "NP_001124451.1:p.Gln1191_Ser2111delinsAlaArgAspLeuAlaAlaMetAspLysAspSerPheSerAspProTyrAlaIleValSerPheLeuHisGlnSerGlnLysThrValValValLysAsnThrLeuAsnProThrTrpAspGlnThrLeuIlePheTyrGluIleGluIlePheGlyGluProAlaThrValAlaGluGlnProProSerIleValValGluLeuTyrAspHisAspThrTyrGlyAlaAspGluPheMetGlyArgCysIleCysGlnProSerLeuGluArgMetProArgLeuAlaTrpPheProLeuThrArgGlySerGlnProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012148" }, { "@id": "http://reg.genome.network/allele/PA2825757032", "coordinates": [ { "allele": "T", "end": 3905, "referenceAllele": "C", "start": 3904 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130980.1:c.3529C>T" ], "proteinEffect": { "hgvs": "NP_001124452.1:p.Gln1177Ter", "hgvsWellDefined": "NP_001124452.1:p.Gln1177_Ser2097delinsAlaArgAspLeuAlaAlaMetAspLysAspSerPheSerAspProTyrAlaIleValSerPheLeuHisGlnSerGlnLysThrValValValLysAsnThrLeuAsnProThrTrpAspGlnThrLeuIlePheTyrGluIleGluIlePheGlyGluProAlaThrValAlaGluGlnProProSerIleValValGluLeuTyrAspHisAspThrTyrGlyAlaAspGluPheMetGlyArgCysIleCysGlnProSerLeuGluArgMetProArgLeuAlaTrpPheProLeuThrArgGlySerGlnProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012149" }, { "@id": "http://reg.genome.network/allele/PA2825759296", "coordinates": [ { "allele": "T", "end": 3905, "referenceAllele": "C", "start": 3904 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130981.1:c.3529C>T" ], "proteinEffect": { "hgvs": "NP_001124453.1:p.Gln1177Ter", "hgvsWellDefined": "NP_001124453.1:p.Gln1177_Ser2118delinsAlaArgAspLeuAlaAlaMetAspLysAspSerPheSerAspProTyrAlaIleValSerPheLeuHisGlnSerGlnLysThrValValValLysAsnThrLeuAsnProThrTrpAspGlnThrLeuIlePheTyrGluIleGluIlePheGlyGluProAlaThrValAlaGluGlnProProSerIleValValGluLeuTyrAspHisAspThrTyrGlyAlaAspGluPheMetGlyArgCysIleCysGlnProSerLeuGluArgMetProArgLeuAlaTrpPheProLeuThrArgGlySerGlnProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012150" }, { "@id": "http://reg.genome.network/allele/PA915973997", "coordinates": [ { "allele": "T", "end": 3715, "referenceAllele": "C", "start": 3714 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130982.1:c.3574C>T" ], "proteinEffect": { "hgvs": "NP_001124454.1:p.Gln1192Ter", "hgvsWellDefined": "NP_001124454.1:p.Gln1192_Ser2112delinsAlaArgAspLeuAlaAlaMetAspLysAspSerPheSerAspProTyrAlaIleValSerPheLeuHisGlnSerGlnLysThrValValValLysAsnThrLeuAsnProThrTrpAspGlnThrLeuIlePheTyrGluIleGluIlePheGlyGluProAlaThrValAlaGluGlnProProSerIleValValGluLeuTyrAspHisAspThrTyrGlyAlaAspGluPheMetGlyArgCysIleCysGlnProSerLeuGluArgMetProArgLeuAlaTrpPheProLeuThrArgGlySerGlnProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012151" }, { "@id": "http://reg.genome.network/allele/PA2825763190", "coordinates": [ { "allele": "T", "end": 3622, "referenceAllele": "C", "start": 3621 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130983.1:c.3481C>T" ], "proteinEffect": { "hgvs": "NP_001124455.1:p.Gln1161Ter", "hgvsWellDefined": "NP_001124455.1:p.Gln1161_Ser2102delinsAlaArgAspLeuAlaAlaMetAspLysAspSerPheSerAspProTyrAlaIleValSerPheLeuHisGlnSerGlnLysThrValValValLysAsnThrLeuAsnProThrTrpAspGlnThrLeuIlePheTyrGluIleGluIlePheGlyGluProAlaThrValAlaGluGlnProProSerIleValValGluLeuTyrAspHisAspThrTyrGlyAlaAspGluPheMetGlyArgCysIleCysGlnProSerLeuGluArgMetProArgLeuAlaTrpPheProLeuThrArgGlySerGlnProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012152" }, { "@id": "http://reg.genome.network/allele/PA2825765428", "coordinates": [ { "allele": "T", "end": 3580, "referenceAllele": "C", "start": 3579 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130984.1:c.3439C>T" ], "proteinEffect": { "hgvs": "NP_001124456.1:p.Gln1147Ter", "hgvsWellDefined": "NP_001124456.1:p.Gln1147_Ser2088delinsAlaArgAspLeuAlaAlaMetAspLysAspSerPheSerAspProTyrAlaIleValSerPheLeuHisGlnSerGlnLysThrValValValLysAsnThrLeuAsnProThrTrpAspGlnThrLeuIlePheTyrGluIleGluIlePheGlyGluProAlaThrValAlaGluGlnProProSerIleValValGluLeuTyrAspHisAspThrTyrGlyAlaAspGluPheMetGlyArgCysIleCysGlnProSerLeuGluArgMetProArgLeuAlaTrpPheProLeuThrArgGlySerGlnProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012153" }, { "@id": "http://reg.genome.network/allele/PA2825767669", "coordinates": [ { "allele": "T", "end": 3673, "referenceAllele": "C", "start": 3672 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130985.1:c.3532C>T" ], "proteinEffect": { "hgvs": "NP_001124457.1:p.Gln1178Ter", "hgvsWellDefined": "NP_001124457.1:p.Gln1178_Ser2098delinsAlaArgAspLeuAlaAlaMetAspLysAspSerPheSerAspProTyrAlaIleValSerPheLeuHisGlnSerGlnLysThrValValValLysAsnThrLeuAsnProThrTrpAspGlnThrLeuIlePheTyrGluIleGluIlePheGlyGluProAlaThrValAlaGluGlnProProSerIleValValGluLeuTyrAspHisAspThrTyrGlyAlaAspGluPheMetGlyArgCysIleCysGlnProSerLeuGluArgMetProArgLeuAlaTrpPheProLeuThrArgGlySerGlnProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012154" }, { "@id": "http://reg.genome.network/allele/PA2825769888", "coordinates": [ { "allele": "T", "end": 3580, "referenceAllele": "C", "start": 3579 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130986.1:c.3439C>T" ], "proteinEffect": { "hgvs": "NP_001124458.1:p.Gln1147Ter", "hgvsWellDefined": "NP_001124458.1:p.Gln1147_Ser2067delinsAlaArgAspLeuAlaAlaMetAspLysAspSerPheSerAspProTyrAlaIleValSerPheLeuHisGlnSerGlnLysThrValValValLysAsnThrLeuAsnProThrTrpAspGlnThrLeuIlePheTyrGluIleGluIlePheGlyGluProAlaThrValAlaGluGlnProProSerIleValValGluLeuTyrAspHisAspThrTyrGlyAlaAspGluPheMetGlyArgCysIleCysGlnProSerLeuGluArgMetProArgLeuAlaTrpPheProLeuThrArgGlySerGlnProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012155" }, { "@id": "http://reg.genome.network/allele/PA645477680", "coordinates": [ { "allele": "T", "end": 3673, "referenceAllele": "C", "start": 3672 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130987.1:c.3532C>T" ], "proteinEffect": { "hgvs": "NP_001124459.1:p.Gln1178Ter", "hgvsWellDefined": "NP_001124459.1:p.Gln1178_Ser2119delinsAlaArgAspLeuAlaAlaMetAspLysAspSerPheSerAspProTyrAlaIleValSerPheLeuHisGlnSerGlnLysThrValValValLysAsnThrLeuAsnProThrTrpAspGlnThrLeuIlePheTyrGluIleGluIlePheGlyGluProAlaThrValAlaGluGlnProProSerIleValValGluLeuTyrAspHisAspThrTyrGlyAlaAspGluPheMetGlyArgCysIleCysGlnProSerLeuGluArgMetProArgLeuAlaTrpPheProLeuThrArgGlySerGlnProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012156" }, { "@id": "http://reg.genome.network/allele/PA2829467477", "coordinates": [ { "allele": "T", "end": 3854, "referenceAllele": "C", "start": 3853 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_003494.3:c.3478C>T" ], "proteinEffect": { "hgvs": "NP_003485.1:p.Gln1160Ter", "hgvsWellDefined": "NP_003485.1:p.Gln1160_Ser2080delinsAlaArgAspLeuAlaAlaMetAspLysAspSerPheSerAspProTyrAlaIleValSerPheLeuHisGlnSerGlnLysThrValValValLysAsnThrLeuAsnProThrTrpAspGlnThrLeuIlePheTyrGluIleGluIlePheGlyGluProAlaThrValAlaGluGlnProProSerIleValValGluLeuTyrAspHisAspThrTyrGlyAlaAspGluPheMetGlyArgCysIleCysGlnProSerLeuGluArgMetProArgLeuAlaTrpPheProLeuThrArgGlySerGlnProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS028733" }, { "coordinates": [ { "allele": "T", "end": 3714, "referenceAllele": "C", "start": 3713 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "XM_005264584.3:c.3574C>T" ], "proteinEffect": { "hgvs": "XP_005264641.1:p.Gln1192Ter", "hgvsWellDefined": "XP_005264641.1:p.Gln1192_Ser2133delinsAlaArgAspLeuAlaAlaMetAspLysAspSerPheSerAspProTyrAlaIleValSerPheLeuHisGlnSerGlnLysThrValValValLysAsnThrLeuAsnProThrTrpAspGlnThrLeuIlePheTyrGluIleGluIlePheGlyGluProAlaThrValAlaGluGlnProProSerIleValValGluLeuTyrAspHisAspThrTyrGlyAlaAspGluPheMetGlyArgCysIleCysGlnProSerLeuGluArgMetProArgLeuAlaTrpPheProLeuThrArgGlySerGlnProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064299" }, { "coordinates": [ { "allele": "T", "end": 4451, "referenceAllele": "C", "start": 4450 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "XM_005264585.3:c.3571C>T" ], "proteinEffect": { "hgvs": "XP_005264642.1:p.Gln1191Ter", "hgvsWellDefined": "XP_005264642.1:p.Gln1191_Ser2132delinsAlaArgAspLeuAlaAlaMetAspLysAspSerPheSerAspProTyrAlaIleValSerPheLeuHisGlnSerGlnLysThrValValValLysAsnThrLeuAsnProThrTrpAspGlnThrLeuIlePheTyrGluIleGluIlePheGlyGluProAlaThrValAlaGluGlnProProSerIleValValGluLeuTyrAspHisAspThrTyrGlyAlaAspGluPheMetGlyArgCysIleCysGlnProSerLeuGluArgMetProArgLeuAlaTrpPheProLeuThrArgGlySerGlnProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064300" }, { "coordinates": [ { "allele": "T", "end": 3730, "referenceAllele": "C", "start": 3729 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "XM_005264584.4:c.3574C>T" ], "proteinEffect": { "hgvs": "XP_005264641.1:p.Gln1192Ter", "hgvsWellDefined": "XP_005264641.1:p.Gln1192_Ser2133delinsAlaArgAspLeuAlaAlaMetAspLysAspSerPheSerAspProTyrAlaIleValSerPheLeuHisGlnSerGlnLysThrValValValLysAsnThrLeuAsnProThrTrpAspGlnThrLeuIlePheTyrGluIleGluIlePheGlyGluProAlaThrValAlaGluGlnProProSerIleValValGluLeuTyrAspHisAspThrTyrGlyAlaAspGluPheMetGlyArgCysIleCysGlnProSerLeuGluArgMetProArgLeuAlaTrpPheProLeuThrArgGlySerGlnProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535912" }, { "coordinates": [ { "allele": "T", "end": 4416, "referenceAllele": "C", "start": 4415 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "XM_005264585.5:c.3571C>T" ], "proteinEffect": { "hgvs": "XP_005264642.1:p.Gln1191Ter", "hgvsWellDefined": "XP_005264642.1:p.Gln1191_Ser2132delinsAlaArgAspLeuAlaAlaMetAspLysAspSerPheSerAspProTyrAlaIleValSerPheLeuHisGlnSerGlnLysThrValValValLysAsnThrLeuAsnProThrTrpAspGlnThrLeuIlePheTyrGluIleGluIlePheGlyGluProAlaThrValAlaGluGlnProProSerIleValValGluLeuTyrAspHisAspThrTyrGlyAlaAspGluPheMetGlyArgCysIleCysGlnProSerLeuGluArgMetProArgLeuAlaTrpPheProLeuThrArgGlySerGlnProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535913" }, { "coordinates": [ { "allele": "T", "end": 3732, "referenceAllele": "C", "start": 3731 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "XR_001738969.1:n.3732C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS589390" }, { "@id": "http://reg.genome.network/allele/PA645477680", "coordinates": [ { "allele": "T", "end": 3676, "referenceAllele": "C", "start": 3675 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130987.2:c.3532C>T" ], "proteinEffect": { "hgvs": "NP_001124459.1:p.Gln1178Ter", "hgvsWellDefined": "NP_001124459.1:p.Gln1178_Ser2119delinsAlaArgAspLeuAlaAlaMetAspLysAspSerPheSerAspProTyrAlaIleValSerPheLeuHisGlnSerGlnLysThrValValValLysAsnThrLeuAsnProThrTrpAspGlnThrLeuIlePheTyrGluIleGluIlePheGlyGluProAlaThrValAlaGluGlnProProSerIleValValGluLeuTyrAspHisAspThrTyrGlyAlaAspGluPheMetGlyArgCysIleCysGlnProSerLeuGluArgMetProArgLeuAlaTrpPheProLeuThrArgGlySerGlnProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS663608", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000410020.8:c.3532C>T" }, "RefSeq": { "hgvs": "NM_001130987.2:c.3532C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000386881.3:p.Gln1178Ter" }, "RefSeq": { "hgvs": "NP_001124459.1:p.Gln1178Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825694517", "coordinates": [ { "allele": "T", "end": 3625, "referenceAllele": "C", "start": 3624 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130455.2:c.3481C>T" ], "proteinEffect": { "hgvs": "NP_001123927.1:p.Gln1161Ter", "hgvsWellDefined": "NP_001123927.1:p.Gln1161_Ser2081delinsAlaArgAspLeuAlaAlaMetAspLysAspSerPheSerAspProTyrAlaIleValSerPheLeuHisGlnSerGlnLysThrValValValLysAsnThrLeuAsnProThrTrpAspGlnThrLeuIlePheTyrGluIleGluIlePheGlyGluProAlaThrValAlaGluGlnProProSerIleValValGluLeuTyrAspHisAspThrTyrGlyAlaAspGluPheMetGlyArgCysIleCysGlnProSerLeuGluArgMetProArgLeuAlaTrpPheProLeuThrArgGlySerGlnProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677114" }, { "@id": "http://reg.genome.network/allele/PA2825747964", "coordinates": [ { "allele": "T", "end": 3874, "referenceAllele": "C", "start": 3873 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130976.2:c.3436C>T" ], "proteinEffect": { "hgvs": "NP_001124448.1:p.Gln1146Ter", "hgvsWellDefined": "NP_001124448.1:p.Gln1146_Ser2066delinsAlaArgAspLeuAlaAlaMetAspLysAspSerPheSerAspProTyrAlaIleValSerPheLeuHisGlnSerGlnLysThrValValValLysAsnThrLeuAsnProThrTrpAspGlnThrLeuIlePheTyrGluIleGluIlePheGlyGluProAlaThrValAlaGluGlnProProSerIleValValGluLeuTyrAspHisAspThrTyrGlyAlaAspGluPheMetGlyArgCysIleCysGlnProSerLeuGluArgMetProArgLeuAlaTrpPheProLeuThrArgGlySerGlnProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677174" }, { "@id": "http://reg.genome.network/allele/PA2825750224", "coordinates": [ { "allele": "T", "end": 3874, "referenceAllele": "C", "start": 3873 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130977.2:c.3436C>T" ], "proteinEffect": { "hgvs": "NP_001124449.1:p.Gln1146Ter", "hgvsWellDefined": "NP_001124449.1:p.Gln1146_Ser2087delinsAlaArgAspLeuAlaAlaMetAspLysAspSerPheSerAspProTyrAlaIleValSerPheLeuHisGlnSerGlnLysThrValValValLysAsnThrLeuAsnProThrTrpAspGlnThrLeuIlePheTyrGluIleGluIlePheGlyGluProAlaThrValAlaGluGlnProProSerIleValValGluLeuTyrAspHisAspThrTyrGlyAlaAspGluPheMetGlyArgCysIleCysGlnProSerLeuGluArgMetProArgLeuAlaTrpPheProLeuThrArgGlySerGlnProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677175" }, { "@id": "http://reg.genome.network/allele/PA2825752492", "coordinates": [ { "allele": "T", "end": 3916, "referenceAllele": "C", "start": 3915 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130978.2:c.3478C>T" ], "proteinEffect": { "hgvs": "NP_001124450.1:p.Gln1160Ter", "hgvsWellDefined": "NP_001124450.1:p.Gln1160_Ser2101delinsAlaArgAspLeuAlaAlaMetAspLysAspSerPheSerAspProTyrAlaIleValSerPheLeuHisGlnSerGlnLysThrValValValLysAsnThrLeuAsnProThrTrpAspGlnThrLeuIlePheTyrGluIleGluIlePheGlyGluProAlaThrValAlaGluGlnProProSerIleValValGluLeuTyrAspHisAspThrTyrGlyAlaAspGluPheMetGlyArgCysIleCysGlnProSerLeuGluArgMetProArgLeuAlaTrpPheProLeuThrArgGlySerGlnProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677176" }, { "@id": "http://reg.genome.network/allele/PA2825754767", "coordinates": [ { "allele": "T", "end": 4009, "referenceAllele": "C", "start": 4008 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130979.2:c.3571C>T" ], "proteinEffect": { "hgvs": "NP_001124451.1:p.Gln1191Ter", "hgvsWellDefined": "NP_001124451.1:p.Gln1191_Ser2111delinsAlaArgAspLeuAlaAlaMetAspLysAspSerPheSerAspProTyrAlaIleValSerPheLeuHisGlnSerGlnLysThrValValValLysAsnThrLeuAsnProThrTrpAspGlnThrLeuIlePheTyrGluIleGluIlePheGlyGluProAlaThrValAlaGluGlnProProSerIleValValGluLeuTyrAspHisAspThrTyrGlyAlaAspGluPheMetGlyArgCysIleCysGlnProSerLeuGluArgMetProArgLeuAlaTrpPheProLeuThrArgGlySerGlnProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677177" }, { "@id": "http://reg.genome.network/allele/PA2825757032", "coordinates": [ { "allele": "T", "end": 3967, "referenceAllele": "C", "start": 3966 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130980.2:c.3529C>T" ], "proteinEffect": { "hgvs": "NP_001124452.1:p.Gln1177Ter", "hgvsWellDefined": "NP_001124452.1:p.Gln1177_Ser2097delinsAlaArgAspLeuAlaAlaMetAspLysAspSerPheSerAspProTyrAlaIleValSerPheLeuHisGlnSerGlnLysThrValValValLysAsnThrLeuAsnProThrTrpAspGlnThrLeuIlePheTyrGluIleGluIlePheGlyGluProAlaThrValAlaGluGlnProProSerIleValValGluLeuTyrAspHisAspThrTyrGlyAlaAspGluPheMetGlyArgCysIleCysGlnProSerLeuGluArgMetProArgLeuAlaTrpPheProLeuThrArgGlySerGlnProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677178" }, { "@id": "http://reg.genome.network/allele/PA2825759296", "coordinates": [ { "allele": "T", "end": 3967, "referenceAllele": "C", "start": 3966 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130981.2:c.3529C>T" ], "proteinEffect": { "hgvs": "NP_001124453.1:p.Gln1177Ter", "hgvsWellDefined": "NP_001124453.1:p.Gln1177_Ser2118delinsAlaArgAspLeuAlaAlaMetAspLysAspSerPheSerAspProTyrAlaIleValSerPheLeuHisGlnSerGlnLysThrValValValLysAsnThrLeuAsnProThrTrpAspGlnThrLeuIlePheTyrGluIleGluIlePheGlyGluProAlaThrValAlaGluGlnProProSerIleValValGluLeuTyrAspHisAspThrTyrGlyAlaAspGluPheMetGlyArgCysIleCysGlnProSerLeuGluArgMetProArgLeuAlaTrpPheProLeuThrArgGlySerGlnProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677179" }, { "@id": "http://reg.genome.network/allele/PA915973997", "coordinates": [ { "allele": "T", "end": 3718, "referenceAllele": "C", "start": 3717 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130982.2:c.3574C>T" ], "proteinEffect": { "hgvs": "NP_001124454.1:p.Gln1192Ter", "hgvsWellDefined": "NP_001124454.1:p.Gln1192_Ser2112delinsAlaArgAspLeuAlaAlaMetAspLysAspSerPheSerAspProTyrAlaIleValSerPheLeuHisGlnSerGlnLysThrValValValLysAsnThrLeuAsnProThrTrpAspGlnThrLeuIlePheTyrGluIleGluIlePheGlyGluProAlaThrValAlaGluGlnProProSerIleValValGluLeuTyrAspHisAspThrTyrGlyAlaAspGluPheMetGlyArgCysIleCysGlnProSerLeuGluArgMetProArgLeuAlaTrpPheProLeuThrArgGlySerGlnProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677180" }, { "@id": "http://reg.genome.network/allele/PA2825763190", "coordinates": [ { "allele": "T", "end": 3625, "referenceAllele": "C", "start": 3624 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130983.2:c.3481C>T" ], "proteinEffect": { "hgvs": "NP_001124455.1:p.Gln1161Ter", "hgvsWellDefined": "NP_001124455.1:p.Gln1161_Ser2102delinsAlaArgAspLeuAlaAlaMetAspLysAspSerPheSerAspProTyrAlaIleValSerPheLeuHisGlnSerGlnLysThrValValValLysAsnThrLeuAsnProThrTrpAspGlnThrLeuIlePheTyrGluIleGluIlePheGlyGluProAlaThrValAlaGluGlnProProSerIleValValGluLeuTyrAspHisAspThrTyrGlyAlaAspGluPheMetGlyArgCysIleCysGlnProSerLeuGluArgMetProArgLeuAlaTrpPheProLeuThrArgGlySerGlnProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677181" }, { "@id": "http://reg.genome.network/allele/PA2825765428", "coordinates": [ { "allele": "T", "end": 3583, "referenceAllele": "C", "start": 3582 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130984.2:c.3439C>T" ], "proteinEffect": { "hgvs": "NP_001124456.1:p.Gln1147Ter", "hgvsWellDefined": "NP_001124456.1:p.Gln1147_Ser2088delinsAlaArgAspLeuAlaAlaMetAspLysAspSerPheSerAspProTyrAlaIleValSerPheLeuHisGlnSerGlnLysThrValValValLysAsnThrLeuAsnProThrTrpAspGlnThrLeuIlePheTyrGluIleGluIlePheGlyGluProAlaThrValAlaGluGlnProProSerIleValValGluLeuTyrAspHisAspThrTyrGlyAlaAspGluPheMetGlyArgCysIleCysGlnProSerLeuGluArgMetProArgLeuAlaTrpPheProLeuThrArgGlySerGlnProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677182" }, { "@id": "http://reg.genome.network/allele/PA2825767669", "coordinates": [ { "allele": "T", "end": 3676, "referenceAllele": "C", "start": 3675 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130985.2:c.3532C>T" ], "proteinEffect": { "hgvs": "NP_001124457.1:p.Gln1178Ter", "hgvsWellDefined": "NP_001124457.1:p.Gln1178_Ser2098delinsAlaArgAspLeuAlaAlaMetAspLysAspSerPheSerAspProTyrAlaIleValSerPheLeuHisGlnSerGlnLysThrValValValLysAsnThrLeuAsnProThrTrpAspGlnThrLeuIlePheTyrGluIleGluIlePheGlyGluProAlaThrValAlaGluGlnProProSerIleValValGluLeuTyrAspHisAspThrTyrGlyAlaAspGluPheMetGlyArgCysIleCysGlnProSerLeuGluArgMetProArgLeuAlaTrpPheProLeuThrArgGlySerGlnProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677183" }, { "@id": "http://reg.genome.network/allele/PA2825769888", "coordinates": [ { "allele": "T", "end": 3583, "referenceAllele": "C", "start": 3582 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130986.2:c.3439C>T" ], "proteinEffect": { "hgvs": "NP_001124458.1:p.Gln1147Ter", "hgvsWellDefined": "NP_001124458.1:p.Gln1147_Ser2067delinsAlaArgAspLeuAlaAlaMetAspLysAspSerPheSerAspProTyrAlaIleValSerPheLeuHisGlnSerGlnLysThrValValValLysAsnThrLeuAsnProThrTrpAspGlnThrLeuIlePheTyrGluIleGluIlePheGlyGluProAlaThrValAlaGluGlnProProSerIleValValGluLeuTyrAspHisAspThrTyrGlyAlaAspGluPheMetGlyArgCysIleCysGlnProSerLeuGluArgMetProArgLeuAlaTrpPheProLeuThrArgGlySerGlnProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677184" }, { "@id": "http://reg.genome.network/allele/PA2829467477", "coordinates": [ { "allele": "T", "end": 3916, "referenceAllele": "C", "start": 3915 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_003494.4:c.3478C>T" ], "proteinEffect": { "hgvs": "NP_003485.1:p.Gln1160Ter", "hgvsWellDefined": "NP_003485.1:p.Gln1160_Ser2080delinsAlaArgAspLeuAlaAlaMetAspLysAspSerPheSerAspProTyrAlaIleValSerPheLeuHisGlnSerGlnLysThrValValValLysAsnThrLeuAsnProThrTrpAspGlnThrLeuIlePheTyrGluIleGluIlePheGlyGluProAlaThrValAlaGluGlnProProSerIleValValGluLeuTyrAspHisAspThrTyrGlyAlaAspGluPheMetGlyArgCysIleCysGlnProSerLeuGluArgMetProArgLeuAlaTrpPheProLeuThrArgGlySerGlnProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695850", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000258104.8:c.3478C>T" }, "RefSeq": { "hgvs": "NM_003494.4:c.3478C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000258104.3:p.Gln1160Ter" }, "RefSeq": { "hgvs": "NP_003485.1:p.Gln1160Ter" } } } } ], "type": "nucleotide" }