{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA347229643", "communityStandardTitle": [ "NM_001130987.2(DYSF):c.4444G>T (p.Glu1482Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=630456[alleleid]", "alleleId": 630456, "preferredName": "NM_001130987.2(DYSF):c.4444G>T (p.Glu1482Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/665762", "RCV": [ "RCV000824113", "RCV001830826" ], "variationId": 665762 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.71840520G>T?assembly=hg19", "id": "chr2:g.71840520G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.71613390G>T?assembly=hg38", "id": "chr2:g.71613390G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1574354515", "rs": 1574354515 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-71613390-G-T?dataset=gnomad_r4", "id": "2-71613390-G-T", "variant": "2:71613390 G / T" } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 71613390, "referenceAllele": "G", "start": 71613389 } ], "hgvs": [ "NC_000002.12:g.71613390G>T", "CM000664.2:g.71613390G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 71840520, "referenceAllele": "G", "start": 71840519 } ], "hgvs": [ "NC_000002.11:g.71840520G>T", "CM000664.1:g.71840520G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 71694028, "referenceAllele": "G", "start": 71694027 } ], "hgvs": [ "NC_000002.10:g.71694028G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "T", "end": 164768, "referenceAllele": "G", "start": 164767 } ], "hgvs": [ "NG_008694.1:g.164768G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001172" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1858, "referenceAllele": "G", "start": 1857 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000698057.1:c.1858G>T" ], "proteinEffect": { "hgvs": "ENSP00000513536.1:p.Glu620Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS909126" }, { "coordinates": [ { "allele": "T", "end": 1266, "referenceAllele": "G", "start": 1265 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000698058.1:c.1075G>T" ], "proteinEffect": { "hgvs": "ENSP00000513537.1:p.Glu359Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS909127" }, { "coordinates": [ { "allele": "T", "end": 1224, "referenceAllele": "G", "start": 1223 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000698059.1:c.1033G>T" ], "proteinEffect": { "hgvs": "ENSP00000513538.1:p.Glu345Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS909128" }, { "coordinates": [ { "allele": "T", "end": 4828, "referenceAllele": "G", "start": 4827 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000258104.8:c.4390G>T" ], "proteinEffect": { "hgvs": "ENSP00000258104.3:p.Glu1464Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS823608", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000258104.8:c.4390G>T" }, "RefSeq": { "hgvs": "NM_003494.4:c.4390G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000258104.3:p.Glu1464Ter" }, "RefSeq": { "hgvs": "NP_003485.1:p.Glu1464Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 4588, "referenceAllele": "G", "start": 4587 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000410020.8:c.4444G>T" ], "proteinEffect": { "hgvs": "ENSP00000386881.3:p.Glu1482Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS754364", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000410020.8:c.4444G>T" }, "RefSeq": { "hgvs": "NM_001130987.2:c.4444G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000386881.3:p.Glu1482Ter" }, "RefSeq": { "hgvs": "NP_001124459.1:p.Glu1482Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 4667, "referenceAllele": "G", "start": 4666 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000258104.7:c.4390G>T" ], "proteinEffect": { "hgvs": "ENSP00000258104.3:p.Glu1464Ter", "hgvsWellDefined": "ENSP00000258104.3:p.Glu1464_Ser2080delinsProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS250344" }, { "coordinates": [ { "allele": "T", "end": 4534, "referenceAllele": "G", "start": 4533 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000394120.6:c.4393G>T" ], "proteinEffect": { "hgvs": "ENSP00000377678.2:p.Glu1465Ter", "hgvsWellDefined": "ENSP00000377678.2:p.Glu1465_Ser2081delinsProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS275989" }, { "coordinates": [ { "allele": "T", "end": 4534, "referenceAllele": "G", "start": 4533 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000409366.5:c.4393G>T" ], "proteinEffect": { "hgvs": "ENSP00000386512.1:p.Glu1465Ter", "hgvsWellDefined": "ENSP00000386512.1:p.Glu1465_Ser2102delinsProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS281485" }, { "coordinates": [ { "allele": "T", "end": 4718, "referenceAllele": "G", "start": 4717 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000409582.7:c.4441G>T" ], "proteinEffect": { "hgvs": "ENSP00000386547.3:p.Glu1481Ter", "hgvsWellDefined": "ENSP00000386547.3:p.Glu1481_Ser2118delinsProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS281674" }, { "coordinates": [ { "allele": "T", "end": 4627, "referenceAllele": "G", "start": 4626 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000409651.5:c.4486G>T" ], "proteinEffect": { "hgvs": "ENSP00000386683.1:p.Glu1496Ter", "hgvsWellDefined": "ENSP00000386683.1:p.Glu1496_Ser2112delinsProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS281733" }, { "coordinates": [ { "allele": "T", "end": 4492, "referenceAllele": "G", "start": 4491 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000409744.5:c.4351G>T" ], "proteinEffect": { "hgvs": "ENSP00000386285.1:p.Glu1451Ter", "hgvsWellDefined": "ENSP00000386285.1:p.Glu1451_Ser2088delinsProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS281812" }, { "coordinates": [ { "allele": "T", "end": 4718, "referenceAllele": "G", "start": 4717 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000409762.5:c.4441G>T" ], "proteinEffect": { "hgvs": "ENSP00000387137.1:p.Glu1481Ter", "hgvsWellDefined": "ENSP00000387137.1:p.Glu1481_Ser2097delinsProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS281827" }, { "coordinates": [ { "allele": "T", "end": 4585, "referenceAllele": "G", "start": 4584 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000410020.7:c.4444G>T" ], "proteinEffect": { "hgvs": "ENSP00000386881.3:p.Glu1482Ter", "hgvsWellDefined": "ENSP00000386881.3:p.Glu1482_Ser2119delinsProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS282050" }, { "coordinates": [ { "allele": "T", "end": 4585, "referenceAllele": "G", "start": 4584 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000410041.1:c.4444G>T" ], "proteinEffect": { "hgvs": "ENSP00000386617.1:p.Glu1482Ter", "hgvsWellDefined": "ENSP00000386617.1:p.Glu1482_Ser2098delinsProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS282070" }, { "coordinates": [ { "allele": "T", "end": 4760, "referenceAllele": "G", "start": 4759 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000413539.6:c.4483G>T" ], "proteinEffect": { "hgvs": "ENSP00000407046.2:p.Glu1495Ter", "hgvsWellDefined": "ENSP00000407046.2:p.Glu1495_Ser2111delinsProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS283111" }, { "coordinates": [ { "allele": "T", "end": 4667, "referenceAllele": "G", "start": 4666 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000429174.6:c.4390G>T" ], "proteinEffect": { "hgvs": "ENSP00000398305.2:p.Glu1464Ter", "hgvsWellDefined": "ENSP00000398305.2:p.Glu1464_Ser2101delinsProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS290540" }, { "coordinates": [ { "allele": "T", "end": 626, "referenceAllele": "G", "start": 625 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000468173.1:n.626G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS311148" }, { "coordinates": [ { "allele": "T", "end": 1275, "referenceAllele": "G", "start": 1274 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000479049.6:n.1275G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS319515" }, { "@id": "http://reg.genome.network/allele/PA2825695009", "coordinates": [ { "allele": "T", "end": 4534, "referenceAllele": "G", "start": 4533 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130455.1:c.4393G>T" ], "proteinEffect": { "hgvs": "NP_001123927.1:p.Glu1465Ter", "hgvsWellDefined": "NP_001123927.1:p.Glu1465_Ser2081delinsProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012028" }, { "@id": "http://reg.genome.network/allele/PA2825748296", "coordinates": [ { "allele": "T", "end": 4724, "referenceAllele": "G", "start": 4723 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130976.1:c.4348G>T" ], "proteinEffect": { "hgvs": "NP_001124448.1:p.Glu1450Ter", "hgvsWellDefined": "NP_001124448.1:p.Glu1450_Ser2066delinsProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012145" }, { "@id": "http://reg.genome.network/allele/PA2825750555", "coordinates": [ { "allele": "T", "end": 4724, "referenceAllele": "G", "start": 4723 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130977.1:c.4348G>T" ], "proteinEffect": { "hgvs": "NP_001124449.1:p.Glu1450Ter", "hgvsWellDefined": "NP_001124449.1:p.Glu1450_Ser2087delinsProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012146" }, { "@id": "http://reg.genome.network/allele/PA2825752822", "coordinates": [ { "allele": "T", "end": 4766, "referenceAllele": "G", "start": 4765 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130978.1:c.4390G>T" ], "proteinEffect": { "hgvs": "NP_001124450.1:p.Glu1464Ter", "hgvsWellDefined": "NP_001124450.1:p.Glu1464_Ser2101delinsProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012147" }, { "@id": "http://reg.genome.network/allele/PA2825755097", "coordinates": [ { "allele": "T", "end": 4859, "referenceAllele": "G", "start": 4858 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130979.1:c.4483G>T" ], "proteinEffect": { "hgvs": "NP_001124451.1:p.Glu1495Ter", "hgvsWellDefined": "NP_001124451.1:p.Glu1495_Ser2111delinsProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012148" }, { "@id": "http://reg.genome.network/allele/PA2825757362", "coordinates": [ { "allele": "T", "end": 4817, "referenceAllele": "G", "start": 4816 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130980.1:c.4441G>T" ], "proteinEffect": { "hgvs": "NP_001124452.1:p.Glu1481Ter", "hgvsWellDefined": "NP_001124452.1:p.Glu1481_Ser2097delinsProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012149" }, { "@id": "http://reg.genome.network/allele/PA2825759628", "coordinates": [ { "allele": "T", "end": 4817, "referenceAllele": "G", "start": 4816 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130981.1:c.4441G>T" ], "proteinEffect": { "hgvs": "NP_001124453.1:p.Glu1481Ter", "hgvsWellDefined": "NP_001124453.1:p.Glu1481_Ser2118delinsProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012150" }, { "@id": "http://reg.genome.network/allele/PA915974281", "coordinates": [ { "allele": "T", "end": 4627, "referenceAllele": "G", "start": 4626 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130982.1:c.4486G>T" ], "proteinEffect": { "hgvs": "NP_001124454.1:p.Glu1496Ter", "hgvsWellDefined": "NP_001124454.1:p.Glu1496_Ser2112delinsProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012151" }, { "@id": "http://reg.genome.network/allele/PA2825763521", "coordinates": [ { "allele": "T", "end": 4534, "referenceAllele": "G", "start": 4533 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130983.1:c.4393G>T" ], "proteinEffect": { "hgvs": "NP_001124455.1:p.Glu1465Ter", "hgvsWellDefined": "NP_001124455.1:p.Glu1465_Ser2102delinsProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012152" }, { "@id": "http://reg.genome.network/allele/PA2825765757", "coordinates": [ { "allele": "T", "end": 4492, "referenceAllele": "G", "start": 4491 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130984.1:c.4351G>T" ], "proteinEffect": { "hgvs": "NP_001124456.1:p.Glu1451Ter", "hgvsWellDefined": "NP_001124456.1:p.Glu1451_Ser2088delinsProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012153" }, { "@id": "http://reg.genome.network/allele/PA2825767998", "coordinates": [ { "allele": "T", "end": 4585, "referenceAllele": "G", "start": 4584 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130985.1:c.4444G>T" ], "proteinEffect": { "hgvs": "NP_001124457.1:p.Glu1482Ter", "hgvsWellDefined": "NP_001124457.1:p.Glu1482_Ser2098delinsProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012154" }, { "@id": "http://reg.genome.network/allele/PA2825770217", "coordinates": [ { "allele": "T", "end": 4492, "referenceAllele": "G", "start": 4491 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130986.1:c.4351G>T" ], "proteinEffect": { "hgvs": "NP_001124458.1:p.Glu1451Ter", "hgvsWellDefined": "NP_001124458.1:p.Glu1451_Ser2067delinsProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012155" }, { "@id": "http://reg.genome.network/allele/PA2825771895", "coordinates": [ { "allele": "T", "end": 4585, "referenceAllele": "G", "start": 4584 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130987.1:c.4444G>T" ], "proteinEffect": { "hgvs": "NP_001124459.1:p.Glu1482Ter", "hgvsWellDefined": "NP_001124459.1:p.Glu1482_Ser2119delinsProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012156" }, { "@id": "http://reg.genome.network/allele/PA2829468034", "coordinates": [ { "allele": "T", "end": 4766, "referenceAllele": "G", "start": 4765 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_003494.3:c.4390G>T" ], "proteinEffect": { "hgvs": "NP_003485.1:p.Glu1464Ter", "hgvsWellDefined": "NP_003485.1:p.Glu1464_Ser2080delinsProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS028733" }, { "coordinates": [ { "allele": "T", "end": 4626, "referenceAllele": "G", "start": 4625 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "XM_005264584.3:c.4486G>T" ], "proteinEffect": { "hgvs": "XP_005264641.1:p.Glu1496Ter", "hgvsWellDefined": "XP_005264641.1:p.Glu1496_Ser2133delinsProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064299" }, { "coordinates": [ { "allele": "T", "end": 5363, "referenceAllele": "G", "start": 5362 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "XM_005264585.3:c.4483G>T" ], "proteinEffect": { "hgvs": "XP_005264642.1:p.Glu1495Ter", "hgvsWellDefined": "XP_005264642.1:p.Glu1495_Ser2132delinsProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064300" }, { "coordinates": [ { "allele": "T", "end": 4642, "referenceAllele": "G", "start": 4641 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "XM_005264584.4:c.4486G>T" ], "proteinEffect": { "hgvs": "XP_005264641.1:p.Glu1496Ter", "hgvsWellDefined": "XP_005264641.1:p.Glu1496_Ser2133delinsProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535912" }, { "coordinates": [ { "allele": "T", "end": 5328, "referenceAllele": "G", "start": 5327 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "XM_005264585.5:c.4483G>T" ], "proteinEffect": { "hgvs": "XP_005264642.1:p.Glu1495Ter", "hgvsWellDefined": "XP_005264642.1:p.Glu1495_Ser2132delinsProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535913" }, { "coordinates": [ { "allele": "T", "end": 4644, "referenceAllele": "G", "start": 4643 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "XR_001738969.1:n.4644G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS589390" }, { "@id": "http://reg.genome.network/allele/PA2825771895", "coordinates": [ { "allele": "T", "end": 4588, "referenceAllele": "G", "start": 4587 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130987.2:c.4444G>T" ], "proteinEffect": { "hgvs": "NP_001124459.1:p.Glu1482Ter", "hgvsWellDefined": "NP_001124459.1:p.Glu1482_Ser2119delinsProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS663608", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000410020.8:c.4444G>T" }, "RefSeq": { "hgvs": "NM_001130987.2:c.4444G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000386881.3:p.Glu1482Ter" }, "RefSeq": { "hgvs": "NP_001124459.1:p.Glu1482Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825695009", "coordinates": [ { "allele": "T", "end": 4537, "referenceAllele": "G", "start": 4536 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130455.2:c.4393G>T" ], "proteinEffect": { "hgvs": "NP_001123927.1:p.Glu1465Ter", "hgvsWellDefined": "NP_001123927.1:p.Glu1465_Ser2081delinsProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677114" }, { "@id": "http://reg.genome.network/allele/PA2825748296", "coordinates": [ { "allele": "T", "end": 4786, "referenceAllele": "G", "start": 4785 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130976.2:c.4348G>T" ], "proteinEffect": { "hgvs": "NP_001124448.1:p.Glu1450Ter", "hgvsWellDefined": "NP_001124448.1:p.Glu1450_Ser2066delinsProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677174" }, { "@id": "http://reg.genome.network/allele/PA2825750555", "coordinates": [ { "allele": "T", "end": 4786, "referenceAllele": "G", "start": 4785 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130977.2:c.4348G>T" ], "proteinEffect": { "hgvs": "NP_001124449.1:p.Glu1450Ter", "hgvsWellDefined": "NP_001124449.1:p.Glu1450_Ser2087delinsProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677175" }, { "@id": "http://reg.genome.network/allele/PA2825752822", "coordinates": [ { "allele": "T", "end": 4828, "referenceAllele": "G", "start": 4827 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130978.2:c.4390G>T" ], "proteinEffect": { "hgvs": "NP_001124450.1:p.Glu1464Ter", "hgvsWellDefined": "NP_001124450.1:p.Glu1464_Ser2101delinsProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677176" }, { "@id": "http://reg.genome.network/allele/PA2825755097", "coordinates": [ { "allele": "T", "end": 4921, "referenceAllele": "G", "start": 4920 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130979.2:c.4483G>T" ], "proteinEffect": { "hgvs": "NP_001124451.1:p.Glu1495Ter", "hgvsWellDefined": "NP_001124451.1:p.Glu1495_Ser2111delinsProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677177" }, { "@id": "http://reg.genome.network/allele/PA2825757362", "coordinates": [ { "allele": "T", "end": 4879, "referenceAllele": "G", "start": 4878 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130980.2:c.4441G>T" ], "proteinEffect": { "hgvs": "NP_001124452.1:p.Glu1481Ter", "hgvsWellDefined": "NP_001124452.1:p.Glu1481_Ser2097delinsProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677178" }, { "@id": "http://reg.genome.network/allele/PA2825759628", "coordinates": [ { "allele": "T", "end": 4879, "referenceAllele": "G", "start": 4878 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130981.2:c.4441G>T" ], "proteinEffect": { "hgvs": "NP_001124453.1:p.Glu1481Ter", "hgvsWellDefined": "NP_001124453.1:p.Glu1481_Ser2118delinsProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677179" }, { "@id": "http://reg.genome.network/allele/PA915974281", "coordinates": [ { "allele": "T", "end": 4630, "referenceAllele": "G", "start": 4629 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130982.2:c.4486G>T" ], "proteinEffect": { "hgvs": "NP_001124454.1:p.Glu1496Ter", "hgvsWellDefined": "NP_001124454.1:p.Glu1496_Ser2112delinsProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677180" }, { "@id": "http://reg.genome.network/allele/PA2825763521", "coordinates": [ { "allele": "T", "end": 4537, "referenceAllele": "G", "start": 4536 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130983.2:c.4393G>T" ], "proteinEffect": { "hgvs": "NP_001124455.1:p.Glu1465Ter", "hgvsWellDefined": "NP_001124455.1:p.Glu1465_Ser2102delinsProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677181" }, { "@id": "http://reg.genome.network/allele/PA2825765757", "coordinates": [ { "allele": "T", "end": 4495, "referenceAllele": "G", "start": 4494 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130984.2:c.4351G>T" ], "proteinEffect": { "hgvs": "NP_001124456.1:p.Glu1451Ter", "hgvsWellDefined": "NP_001124456.1:p.Glu1451_Ser2088delinsProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677182" }, { "@id": "http://reg.genome.network/allele/PA2825767998", "coordinates": [ { "allele": "T", "end": 4588, "referenceAllele": "G", "start": 4587 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130985.2:c.4444G>T" ], "proteinEffect": { "hgvs": "NP_001124457.1:p.Glu1482Ter", "hgvsWellDefined": "NP_001124457.1:p.Glu1482_Ser2098delinsProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677183" }, { "@id": "http://reg.genome.network/allele/PA2825770217", "coordinates": [ { "allele": "T", "end": 4495, "referenceAllele": "G", "start": 4494 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130986.2:c.4351G>T" ], "proteinEffect": { "hgvs": "NP_001124458.1:p.Glu1451Ter", "hgvsWellDefined": "NP_001124458.1:p.Glu1451_Ser2067delinsProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677184" }, { "@id": "http://reg.genome.network/allele/PA2829468034", "coordinates": [ { "allele": "T", "end": 4828, "referenceAllele": "G", "start": 4827 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_003494.4:c.4390G>T" ], "proteinEffect": { "hgvs": "NP_003485.1:p.Glu1464Ter", "hgvsWellDefined": "NP_003485.1:p.Glu1464_Ser2080delinsProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695850", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000258104.8:c.4390G>T" }, "RefSeq": { "hgvs": "NM_003494.4:c.4390G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000258104.3:p.Glu1464Ter" }, "RefSeq": { "hgvs": "NP_003485.1:p.Glu1464Ter" } } } } ], "type": "nucleotide" }