{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA347225446", "communityStandardTitle": [ "NM_001130987.2(DYSF):c.3847C>T (p.Gln1283Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2164431[alleleid]", "alleleId": 2164431, "preferredName": "NM_001130987.2(DYSF):c.3847C>T (p.Gln1283Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2113143", "RCV": [ "RCV003038626" ], "variationId": 2113143 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.71827922C>T?assembly=hg19", "id": "chr2:g.71827922C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.71600792C>T?assembly=hg38", "id": "chr2:g.71600792C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2546061717", "rs": 2546061717 } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 71600792, "referenceAllele": "C", "start": 71600791 } ], "hgvs": [ "NC_000002.12:g.71600792C>T", "CM000664.2:g.71600792C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 71827922, "referenceAllele": "C", "start": 71827921 } ], "hgvs": [ "NC_000002.11:g.71827922C>T", "CM000664.1:g.71827922C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 71681430, "referenceAllele": "C", "start": 71681429 } ], "hgvs": [ "NC_000002.10:g.71681430C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "T", "end": 152170, "referenceAllele": "C", "start": 152169 } ], "hgvs": [ "NG_008694.1:g.152170C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001172" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1219, "referenceAllele": "C", "start": 1218 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000698057.1:c.1219C>T" ], "proteinEffect": { "hgvs": "ENSP00000513536.1:p.Gln407Ter", "hgvsWellDefined": "ENSP00000513536.1:p.Gln407_Ser1257delinsProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluLeuCysAlaProAlaPhePheLeuGlnGlyLeuLeuGlnThrSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS909126" }, { "coordinates": [ { "allele": "T", "end": 627, "referenceAllele": "C", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000698058.1:c.436C>T" ], "proteinEffect": { "hgvs": "ENSP00000513537.1:p.Gln146Ter", "hgvsWellDefined": "ENSP00000513537.1:p.Gln146_Ser996delinsProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluLeuCysAlaProAlaPhePheLeuGlnGlyLeuLeuGlnThrSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS909127" }, { "coordinates": [ { "allele": "T", "end": 627, "referenceAllele": "C", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000698059.1:c.436C>T" ], "proteinEffect": { "hgvs": "ENSP00000513538.1:p.Gln146Ter", "hgvsWellDefined": "ENSP00000513538.1:p.Gln146_Ser1032delinsProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisCysSerLysAspAlaGlyLysGluGlyLeuGlyLeuProCysSerLysLeuAlaPheSerArgValValThrSerGlnLysAlaLeuProCysCysThrLeuProHisLeuThrLeuPheProLeuSerTrpLeuGlnLysThrLeuArgGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS909128" }, { "coordinates": [ { "allele": "T", "end": 4231, "referenceAllele": "C", "start": 4230 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000258104.8:c.3793C>T" ], "proteinEffect": { "hgvs": "ENSP00000258104.3:p.Gln1265Ter", "hgvsWellDefined": "ENSP00000258104.3:p.Gln1265_Ser2080delinsProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS823608", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000258104.8:c.3793C>T" }, "RefSeq": { "hgvs": "NM_003494.4:c.3793C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000258104.3:p.Gln1265Ter" }, "RefSeq": { "hgvs": "NP_003485.1:p.Gln1265Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 3991, "referenceAllele": "C", "start": 3990 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000410020.8:c.3847C>T" ], "proteinEffect": { "hgvs": "ENSP00000386881.3:p.Gln1283Ter", "hgvsWellDefined": "ENSP00000386881.3:p.Gln1283_Ser2119delinsProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS754364", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000410020.8:c.3847C>T" }, "RefSeq": { "hgvs": "NM_001130987.2:c.3847C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000386881.3:p.Gln1283Ter" }, "RefSeq": { "hgvs": "NP_001124459.1:p.Gln1283Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 4070, "referenceAllele": "C", "start": 4069 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000258104.7:c.3793C>T" ], "proteinEffect": { "hgvs": "ENSP00000258104.3:p.Gln1265Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS250344" }, { "coordinates": [ { "allele": "T", "end": 3937, "referenceAllele": "C", "start": 3936 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000394120.6:c.3796C>T" ], "proteinEffect": { "hgvs": "ENSP00000377678.2:p.Gln1266Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS275989" }, { "coordinates": [ { "allele": "T", "end": 3937, "referenceAllele": "C", "start": 3936 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000409366.5:c.3796C>T" ], "proteinEffect": { "hgvs": "ENSP00000386512.1:p.Gln1266Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS281485" }, { "coordinates": [ { "allele": "T", "end": 4121, "referenceAllele": "C", "start": 4120 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000409582.7:c.3844C>T" ], "proteinEffect": { "hgvs": "ENSP00000386547.3:p.Gln1282Ter", "hgvsWellDefined": "ENSP00000386547.3:p.Gln1282_Ser2118delinsProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS281674" }, { "coordinates": [ { "allele": "T", "end": 4030, "referenceAllele": "C", "start": 4029 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000409651.5:c.3889C>T" ], "proteinEffect": { "hgvs": "ENSP00000386683.1:p.Gln1297Ter", "hgvsWellDefined": "ENSP00000386683.1:p.Gln1297_Ser2112delinsProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS281733" }, { "coordinates": [ { "allele": "T", "end": 3895, "referenceAllele": "C", "start": 3894 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000409744.5:c.3754C>T" ], "proteinEffect": { "hgvs": "ENSP00000386285.1:p.Gln1252Ter", "hgvsWellDefined": "ENSP00000386285.1:p.Gln1252_Ser2088delinsProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS281812" }, { "coordinates": [ { "allele": "T", "end": 4121, "referenceAllele": "C", "start": 4120 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000409762.5:c.3844C>T" ], "proteinEffect": { "hgvs": "ENSP00000387137.1:p.Gln1282Ter", "hgvsWellDefined": "ENSP00000387137.1:p.Gln1282_Ser2097delinsProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS281827" }, { "coordinates": [ { "allele": "T", "end": 3988, "referenceAllele": "C", "start": 3987 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000410020.7:c.3847C>T" ], "proteinEffect": { "hgvs": "ENSP00000386881.3:p.Gln1283Ter", "hgvsWellDefined": "ENSP00000386881.3:p.Gln1283_Ser2119delinsProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS282050" }, { "coordinates": [ { "allele": "T", "end": 3988, "referenceAllele": "C", "start": 3987 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000410041.1:c.3847C>T" ], "proteinEffect": { "hgvs": "ENSP00000386617.1:p.Gln1283Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS282070" }, { "coordinates": [ { "allele": "T", "end": 4163, "referenceAllele": "C", "start": 4162 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000413539.6:c.3886C>T" ], "proteinEffect": { "hgvs": "ENSP00000407046.2:p.Gln1296Ter", "hgvsWellDefined": "ENSP00000407046.2:p.Gln1296_Ser2111delinsProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS283111" }, { "coordinates": [ { "allele": "T", "end": 4070, "referenceAllele": "C", "start": 4069 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000429174.6:c.3793C>T" ], "proteinEffect": { "hgvs": "ENSP00000398305.2:p.Gln1265Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS290540" }, { "coordinates": [ { "allele": "T", "end": 621, "referenceAllele": "C", "start": 620 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000475076.5:n.621C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS316438" }, { "coordinates": [ { "allele": "T", "end": 678, "referenceAllele": "C", "start": 677 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000479049.6:n.678C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS319515" }, { "coordinates": [ { "allele": "T", "end": 514, "referenceAllele": "C", "start": 513 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000493767.1:n.514C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS330852" }, { "@id": "http://reg.genome.network/allele/PA2825694675", "coordinates": [ { "allele": "T", "end": 3937, "referenceAllele": "C", "start": 3936 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130455.1:c.3796C>T" ], "proteinEffect": { "hgvs": "NP_001123927.1:p.Gln1266Ter", "hgvsWellDefined": "NP_001123927.1:p.Gln1266_Ser2081delinsProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012028" }, { "@id": "http://reg.genome.network/allele/PA2825748073", "coordinates": [ { "allele": "T", "end": 4127, "referenceAllele": "C", "start": 4126 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130976.1:c.3751C>T" ], "proteinEffect": { "hgvs": "NP_001124448.1:p.Gln1251Ter", "hgvsWellDefined": "NP_001124448.1:p.Gln1251_Ser2066delinsProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012145" }, { "@id": "http://reg.genome.network/allele/PA2825750332", "coordinates": [ { "allele": "T", "end": 4127, "referenceAllele": "C", "start": 4126 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130977.1:c.3751C>T" ], "proteinEffect": { "hgvs": "NP_001124449.1:p.Gln1251Ter", "hgvsWellDefined": "NP_001124449.1:p.Gln1251_Ser2087delinsProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012146" }, { "@id": "http://reg.genome.network/allele/PA2825752600", "coordinates": [ { "allele": "T", "end": 4169, "referenceAllele": "C", "start": 4168 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130978.1:c.3793C>T" ], "proteinEffect": { "hgvs": "NP_001124450.1:p.Gln1265Ter", "hgvsWellDefined": "NP_001124450.1:p.Gln1265_Ser2101delinsProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012147" }, { "@id": "http://reg.genome.network/allele/PA2825754875", "coordinates": [ { "allele": "T", "end": 4262, "referenceAllele": "C", "start": 4261 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130979.1:c.3886C>T" ], "proteinEffect": { "hgvs": "NP_001124451.1:p.Gln1296Ter", "hgvsWellDefined": "NP_001124451.1:p.Gln1296_Ser2111delinsProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012148" }, { "@id": "http://reg.genome.network/allele/PA2825757140", "coordinates": [ { "allele": "T", "end": 4220, "referenceAllele": "C", "start": 4219 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130980.1:c.3844C>T" ], "proteinEffect": { "hgvs": "NP_001124452.1:p.Gln1282Ter", "hgvsWellDefined": "NP_001124452.1:p.Gln1282_Ser2097delinsProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012149" }, { "@id": "http://reg.genome.network/allele/PA2825759405", "coordinates": [ { "allele": "T", "end": 4220, "referenceAllele": "C", "start": 4219 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130981.1:c.3844C>T" ], "proteinEffect": { "hgvs": "NP_001124453.1:p.Gln1282Ter", "hgvsWellDefined": "NP_001124453.1:p.Gln1282_Ser2118delinsProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012150" }, { "@id": "http://reg.genome.network/allele/PA2580152884", "coordinates": [ { "allele": "T", "end": 4030, "referenceAllele": "C", "start": 4029 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130982.1:c.3889C>T" ], "proteinEffect": { "hgvs": "NP_001124454.1:p.Gln1297Ter", "hgvsWellDefined": "NP_001124454.1:p.Gln1297_Ser2112delinsProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012151" }, { "@id": "http://reg.genome.network/allele/PA2825763299", "coordinates": [ { "allele": "T", "end": 3937, "referenceAllele": "C", "start": 3936 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130983.1:c.3796C>T" ], "proteinEffect": { "hgvs": "NP_001124455.1:p.Gln1266Ter", "hgvsWellDefined": "NP_001124455.1:p.Gln1266_Ser2102delinsProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012152" }, { "@id": "http://reg.genome.network/allele/PA2825765536", "coordinates": [ { "allele": "T", "end": 3895, "referenceAllele": "C", "start": 3894 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130984.1:c.3754C>T" ], "proteinEffect": { "hgvs": "NP_001124456.1:p.Gln1252Ter", "hgvsWellDefined": "NP_001124456.1:p.Gln1252_Ser2088delinsProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012153" }, { "@id": "http://reg.genome.network/allele/PA2825767777", "coordinates": [ { "allele": "T", "end": 3988, "referenceAllele": "C", "start": 3987 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130985.1:c.3847C>T" ], "proteinEffect": { "hgvs": "NP_001124457.1:p.Gln1283Ter", "hgvsWellDefined": "NP_001124457.1:p.Gln1283_Ser2098delinsProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012154" }, { "@id": "http://reg.genome.network/allele/PA2825769996", "coordinates": [ { "allele": "T", "end": 3895, "referenceAllele": "C", "start": 3894 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130986.1:c.3754C>T" ], "proteinEffect": { "hgvs": "NP_001124458.1:p.Gln1252Ter", "hgvsWellDefined": "NP_001124458.1:p.Gln1252_Ser2067delinsProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012155" }, { "@id": "http://reg.genome.network/allele/PA2825771727", "coordinates": [ { "allele": "T", "end": 3988, "referenceAllele": "C", "start": 3987 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130987.1:c.3847C>T" ], "proteinEffect": { "hgvs": "NP_001124459.1:p.Gln1283Ter", "hgvsWellDefined": "NP_001124459.1:p.Gln1283_Ser2119delinsProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012156" }, { "@id": "http://reg.genome.network/allele/PA2829467608", "coordinates": [ { "allele": "T", "end": 4169, "referenceAllele": "C", "start": 4168 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_003494.3:c.3793C>T" ], "proteinEffect": { "hgvs": "NP_003485.1:p.Gln1265Ter", "hgvsWellDefined": "NP_003485.1:p.Gln1265_Ser2080delinsProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS028733" }, { "coordinates": [ { "allele": "T", "end": 4029, "referenceAllele": "C", "start": 4028 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "XM_005264584.3:c.3889C>T" ], "proteinEffect": { "hgvs": "XP_005264641.1:p.Gln1297Ter", "hgvsWellDefined": "XP_005264641.1:p.Gln1297_Ser2133delinsProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064299" }, { "coordinates": [ { "allele": "T", "end": 4766, "referenceAllele": "C", "start": 4765 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "XM_005264585.3:c.3886C>T" ], "proteinEffect": { "hgvs": "XP_005264642.1:p.Gln1296Ter", "hgvsWellDefined": "XP_005264642.1:p.Gln1296_Ser2132delinsProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064300" }, { "coordinates": [ { "allele": "T", "end": 4045, "referenceAllele": "C", "start": 4044 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "XM_005264584.4:c.3889C>T" ], "proteinEffect": { "hgvs": "XP_005264641.1:p.Gln1297Ter", "hgvsWellDefined": "XP_005264641.1:p.Gln1297_Ser2133delinsProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535912" }, { "coordinates": [ { "allele": "T", "end": 4731, "referenceAllele": "C", "start": 4730 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "XM_005264585.5:c.3886C>T" ], "proteinEffect": { "hgvs": "XP_005264642.1:p.Gln1296Ter", "hgvsWellDefined": "XP_005264642.1:p.Gln1296_Ser2132delinsProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535913" }, { "coordinates": [ { "allele": "T", "end": 4047, "referenceAllele": "C", "start": 4046 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "XR_001738969.1:n.4047C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS589390" }, { "@id": "http://reg.genome.network/allele/PA2825771727", "coordinates": [ { "allele": "T", "end": 3991, "referenceAllele": "C", "start": 3990 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130987.2:c.3847C>T" ], "proteinEffect": { "hgvs": "NP_001124459.1:p.Gln1283Ter", "hgvsWellDefined": "NP_001124459.1:p.Gln1283_Ser2119delinsProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS663608", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000410020.8:c.3847C>T" }, "RefSeq": { "hgvs": "NM_001130987.2:c.3847C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000386881.3:p.Gln1283Ter" }, "RefSeq": { "hgvs": "NP_001124459.1:p.Gln1283Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825694675", "coordinates": [ { "allele": "T", "end": 3940, "referenceAllele": "C", "start": 3939 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130455.2:c.3796C>T" ], "proteinEffect": { "hgvs": "NP_001123927.1:p.Gln1266Ter", "hgvsWellDefined": "NP_001123927.1:p.Gln1266_Ser2081delinsProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677114" }, { "@id": "http://reg.genome.network/allele/PA2825748073", "coordinates": [ { "allele": "T", "end": 4189, "referenceAllele": "C", "start": 4188 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130976.2:c.3751C>T" ], "proteinEffect": { "hgvs": "NP_001124448.1:p.Gln1251Ter", "hgvsWellDefined": "NP_001124448.1:p.Gln1251_Ser2066delinsProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677174" }, { "@id": "http://reg.genome.network/allele/PA2825750332", "coordinates": [ { "allele": "T", "end": 4189, "referenceAllele": "C", "start": 4188 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130977.2:c.3751C>T" ], "proteinEffect": { "hgvs": "NP_001124449.1:p.Gln1251Ter", "hgvsWellDefined": "NP_001124449.1:p.Gln1251_Ser2087delinsProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677175" }, { "@id": "http://reg.genome.network/allele/PA2825752600", "coordinates": [ { "allele": "T", "end": 4231, "referenceAllele": "C", "start": 4230 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130978.2:c.3793C>T" ], "proteinEffect": { "hgvs": "NP_001124450.1:p.Gln1265Ter", "hgvsWellDefined": "NP_001124450.1:p.Gln1265_Ser2101delinsProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677176" }, { "@id": "http://reg.genome.network/allele/PA2825754875", "coordinates": [ { "allele": "T", "end": 4324, "referenceAllele": "C", "start": 4323 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130979.2:c.3886C>T" ], "proteinEffect": { "hgvs": "NP_001124451.1:p.Gln1296Ter", "hgvsWellDefined": "NP_001124451.1:p.Gln1296_Ser2111delinsProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677177" }, { "@id": "http://reg.genome.network/allele/PA2825757140", "coordinates": [ { "allele": "T", "end": 4282, "referenceAllele": "C", "start": 4281 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130980.2:c.3844C>T" ], "proteinEffect": { "hgvs": "NP_001124452.1:p.Gln1282Ter", "hgvsWellDefined": "NP_001124452.1:p.Gln1282_Ser2097delinsProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677178" }, { "@id": "http://reg.genome.network/allele/PA2825759405", "coordinates": [ { "allele": "T", "end": 4282, "referenceAllele": "C", "start": 4281 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130981.2:c.3844C>T" ], "proteinEffect": { "hgvs": "NP_001124453.1:p.Gln1282Ter", "hgvsWellDefined": "NP_001124453.1:p.Gln1282_Ser2118delinsProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677179" }, { "@id": "http://reg.genome.network/allele/PA2580152884", "coordinates": [ { "allele": "T", "end": 4033, "referenceAllele": "C", "start": 4032 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130982.2:c.3889C>T" ], "proteinEffect": { "hgvs": "NP_001124454.1:p.Gln1297Ter", "hgvsWellDefined": "NP_001124454.1:p.Gln1297_Ser2112delinsProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677180" }, { "@id": "http://reg.genome.network/allele/PA2825763299", "coordinates": [ { "allele": "T", "end": 3940, "referenceAllele": "C", "start": 3939 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130983.2:c.3796C>T" ], "proteinEffect": { "hgvs": "NP_001124455.1:p.Gln1266Ter", "hgvsWellDefined": "NP_001124455.1:p.Gln1266_Ser2102delinsProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677181" }, { "@id": "http://reg.genome.network/allele/PA2825765536", "coordinates": [ { "allele": "T", "end": 3898, "referenceAllele": "C", "start": 3897 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130984.2:c.3754C>T" ], "proteinEffect": { "hgvs": "NP_001124456.1:p.Gln1252Ter", "hgvsWellDefined": "NP_001124456.1:p.Gln1252_Ser2088delinsProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677182" }, { "@id": "http://reg.genome.network/allele/PA2825767777", "coordinates": [ { "allele": "T", "end": 3991, "referenceAllele": "C", "start": 3990 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130985.2:c.3847C>T" ], "proteinEffect": { "hgvs": "NP_001124457.1:p.Gln1283Ter", "hgvsWellDefined": "NP_001124457.1:p.Gln1283_Ser2098delinsProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677183" }, { "@id": "http://reg.genome.network/allele/PA2825769996", "coordinates": [ { "allele": "T", "end": 3898, "referenceAllele": "C", "start": 3897 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130986.2:c.3754C>T" ], "proteinEffect": { "hgvs": "NP_001124458.1:p.Gln1252Ter", "hgvsWellDefined": "NP_001124458.1:p.Gln1252_Ser2067delinsProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677184" }, { "@id": "http://reg.genome.network/allele/PA2829467608", "coordinates": [ { "allele": "T", "end": 4231, "referenceAllele": "C", "start": 4230 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_003494.4:c.3793C>T" ], "proteinEffect": { "hgvs": "NP_003485.1:p.Gln1265Ter", "hgvsWellDefined": "NP_003485.1:p.Gln1265_Ser2080delinsProSerGlyGluLeuLeuAlaSerPheGluLeuIleGlnArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695850", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000258104.8:c.3793C>T" }, "RefSeq": { "hgvs": "NM_003494.4:c.3793C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000258104.3:p.Gln1265Ter" }, "RefSeq": { "hgvs": "NP_003485.1:p.Gln1265Ter" } } } } ], "type": "nucleotide" }