{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA233937", "communityStandardTitle": [ "NM_001130987.2(DYSF):c.3886C>T (p.Gln1296Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=177216[alleleid]", "alleleId": 177216, "preferredName": "NM_001130987.2(DYSF):c.3886C>T (p.Gln1296Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/167025", "RCV": [ "RCV000323235", "RCV000809801", "RCV003467211", "RCV003917498", "RCV000984259", "RCV002492572" ], "variationId": 167025 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/2-71827961-C-T", "id": "2-71827961-C-T", "variant": "2:71827961 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.71827961C>T?assembly=hg19", "id": "chr2:g.71827961C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.71600831C>T?assembly=hg38", "id": "chr2:g.71600831C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/727503911", "rs": 727503911 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-71827961-C-T?dataset=gnomad_r2_1", "id": "2-71827961-C-T", "variant": "2:71827961 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-71600831-C-T?dataset=gnomad_r3", "id": "2-71600831-C-T", "variant": "2:71600831 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-71600831-C-T?dataset=gnomad_r4", "id": "2-71600831-C-T", "variant": "2:71600831 C / T" } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 71600831, "referenceAllele": "C", "start": 71600830 } ], "hgvs": [ "NC_000002.12:g.71600831C>T", "CM000664.2:g.71600831C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 71827961, "referenceAllele": "C", "start": 71827960 } ], "hgvs": [ "NC_000002.11:g.71827961C>T", "CM000664.1:g.71827961C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 71681469, "referenceAllele": "C", "start": 71681468 } ], "hgvs": [ "NC_000002.10:g.71681469C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "T", "end": 152209, "referenceAllele": "C", "start": 152208 } ], "hgvs": [ "NG_008694.1:g.152209C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001172" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1258, "referenceAllele": "C", "start": 1257 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000698057.1:c.1258C>T" ], "proteinEffect": { "hgvs": "ENSP00000513536.1:p.Gln420Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS909126" }, { "coordinates": [ { "allele": "T", "end": 666, "referenceAllele": "C", "start": 665 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000698058.1:c.475C>T" ], "proteinEffect": { "hgvs": "ENSP00000513537.1:p.Gln159Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS909127" }, { "coordinates": [ { "allele": "T", "end": 666, "referenceAllele": "C", "start": 665 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000698059.1:c.475C>T" ], "proteinEffect": { "hgvs": "ENSP00000513538.1:p.Gln159Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS909128" }, { "coordinates": [ { "allele": "T", "end": 4270, "referenceAllele": "C", "start": 4269 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000258104.8:c.3832C>T" ], "proteinEffect": { "hgvs": "ENSP00000258104.3:p.Gln1278Ter", "hgvsWellDefined": "ENSP00000258104.3:p.Gln1278_Ser2080delinsArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS823608", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000258104.8:c.3832C>T" }, "RefSeq": { "hgvs": "NM_003494.4:c.3832C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000258104.3:p.Gln1278Ter" }, "RefSeq": { "hgvs": "NP_003485.1:p.Gln1278Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 4030, "referenceAllele": "C", "start": 4029 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000410020.8:c.3886C>T" ], "proteinEffect": { "hgvs": "ENSP00000386881.3:p.Gln1296Ter", "hgvsWellDefined": "ENSP00000386881.3:p.Gln1296_Ser2119delinsArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS754364", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000410020.8:c.3886C>T" }, "RefSeq": { "hgvs": "NM_001130987.2:c.3886C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000386881.3:p.Gln1296Ter" }, "RefSeq": { "hgvs": "NP_001124459.1:p.Gln1296Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 4109, "referenceAllele": "C", "start": 4108 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000258104.7:c.3832C>T" ], "proteinEffect": { "hgvs": "ENSP00000258104.3:p.Gln1278Ter", "hgvsWellDefined": "ENSP00000258104.3:p.Gln1278_Ser2080delinsArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS250344" }, { "coordinates": [ { "allele": "T", "end": 3976, "referenceAllele": "C", "start": 3975 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000394120.6:c.3835C>T" ], "proteinEffect": { "hgvs": "ENSP00000377678.2:p.Gln1279Ter", "hgvsWellDefined": "ENSP00000377678.2:p.Gln1279_Ser2081delinsArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS275989" }, { "coordinates": [ { "allele": "T", "end": 3976, "referenceAllele": "C", "start": 3975 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000409366.5:c.3835C>T" ], "proteinEffect": { "hgvs": "ENSP00000386512.1:p.Gln1279Ter", "hgvsWellDefined": "ENSP00000386512.1:p.Gln1279_Ser2102delinsArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS281485" }, { "coordinates": [ { "allele": "T", "end": 4160, "referenceAllele": "C", "start": 4159 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000409582.7:c.3883C>T" ], "proteinEffect": { "hgvs": "ENSP00000386547.3:p.Gln1295Ter", "hgvsWellDefined": "ENSP00000386547.3:p.Gln1295_Ser2118delinsArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS281674" }, { "coordinates": [ { "allele": "T", "end": 4069, "referenceAllele": "C", "start": 4068 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000409651.5:c.3928C>T" ], "proteinEffect": { "hgvs": "ENSP00000386683.1:p.Gln1310Ter", "hgvsWellDefined": "ENSP00000386683.1:p.Gln1310_Ser2112delinsArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS281733" }, { "coordinates": [ { "allele": "T", "end": 3934, "referenceAllele": "C", "start": 3933 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000409744.5:c.3793C>T" ], "proteinEffect": { "hgvs": "ENSP00000386285.1:p.Gln1265Ter", "hgvsWellDefined": "ENSP00000386285.1:p.Gln1265_Ser2088delinsArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS281812" }, { "coordinates": [ { "allele": "T", "end": 4160, "referenceAllele": "C", "start": 4159 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000409762.5:c.3883C>T" ], "proteinEffect": { "hgvs": "ENSP00000387137.1:p.Gln1295Ter", "hgvsWellDefined": "ENSP00000387137.1:p.Gln1295_Ser2097delinsArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS281827" }, { "coordinates": [ { "allele": "T", "end": 4027, "referenceAllele": "C", "start": 4026 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000410020.7:c.3886C>T" ], "proteinEffect": { "hgvs": "ENSP00000386881.3:p.Gln1296Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS290540" }, { "coordinates": [ { "allele": "T", "end": 660, "referenceAllele": "C", "start": 659 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000475076.5:n.660C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS316438" }, { "coordinates": [ { "allele": "T", "end": 717, "referenceAllele": "C", "start": 716 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000479049.6:n.717C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS319515" }, { "coordinates": [ { "allele": "T", "end": 553, "referenceAllele": "C", "start": 552 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000493767.1:n.553C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS330852" }, { "@id": 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"NP_001123927.1:p.Gln1279_Ser2081delinsArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012028" }, { "@id": "http://reg.genome.network/allele/PA2825748095", "coordinates": [ { "allele": "T", "end": 4166, "referenceAllele": "C", "start": 4165 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130976.1:c.3790C>T" ], "proteinEffect": { "hgvs": "NP_001124448.1:p.Gln1264Ter", "hgvsWellDefined": "NP_001124448.1:p.Gln1264_Ser2066delinsArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012145" }, { "@id": "http://reg.genome.network/allele/PA2825750354", "coordinates": [ { "allele": "T", "end": 4166, "referenceAllele": "C", "start": 4165 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130977.1:c.3790C>T" ], "proteinEffect": { "hgvs": "NP_001124449.1:p.Gln1264Ter", "hgvsWellDefined": "NP_001124449.1:p.Gln1264_Ser2087delinsArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012146" }, { "@id": "http://reg.genome.network/allele/PA2825752621", "coordinates": [ { "allele": "T", "end": 4208, "referenceAllele": "C", "start": 4207 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130978.1:c.3832C>T" ], "proteinEffect": { "hgvs": "NP_001124450.1:p.Gln1278Ter", "hgvsWellDefined": "NP_001124450.1:p.Gln1278_Ser2101delinsArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012147" }, { "@id": "http://reg.genome.network/allele/PA2825754897", "coordinates": [ { "allele": "T", "end": 4301, "referenceAllele": "C", "start": 4300 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130979.1:c.3925C>T" ], "proteinEffect": { "hgvs": "NP_001124451.1:p.Gln1309Ter", "hgvsWellDefined": "NP_001124451.1:p.Gln1309_Ser2111delinsArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012148" }, { "@id": "http://reg.genome.network/allele/PA2825757161", "coordinates": [ { "allele": "T", "end": 4259, "referenceAllele": "C", "start": 4258 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130980.1:c.3883C>T" ], "proteinEffect": { "hgvs": "NP_001124452.1:p.Gln1295Ter", "hgvsWellDefined": "NP_001124452.1:p.Gln1295_Ser2097delinsArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012149" }, { "@id": "http://reg.genome.network/allele/PA2825759427", "coordinates": [ { "allele": "T", "end": 4259, "referenceAllele": "C", "start": 4258 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130981.1:c.3883C>T" ], "proteinEffect": { "hgvs": "NP_001124453.1:p.Gln1295Ter", "hgvsWellDefined": "NP_001124453.1:p.Gln1295_Ser2118delinsArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012150" }, { "@id": "http://reg.genome.network/allele/PA915974080", "coordinates": [ { "allele": "T", "end": 4069, "referenceAllele": "C", "start": 4068 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130982.1:c.3928C>T" ], "proteinEffect": { "hgvs": "NP_001124454.1:p.Gln1310Ter", "hgvsWellDefined": "NP_001124454.1:p.Gln1310_Ser2112delinsArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012151" }, { "@id": "http://reg.genome.network/allele/PA2825763321", "coordinates": [ { "allele": "T", "end": 3976, "referenceAllele": "C", "start": 3975 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130983.1:c.3835C>T" ], "proteinEffect": { "hgvs": "NP_001124455.1:p.Gln1279Ter", "hgvsWellDefined": "NP_001124455.1:p.Gln1279_Ser2102delinsArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012152" }, { "@id": "http://reg.genome.network/allele/PA2825765557", "coordinates": [ { "allele": "T", "end": 3934, "referenceAllele": "C", "start": 3933 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130984.1:c.3793C>T" ], "proteinEffect": { "hgvs": "NP_001124456.1:p.Gln1265Ter", "hgvsWellDefined": "NP_001124456.1:p.Gln1265_Ser2088delinsArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012153" }, { "@id": "http://reg.genome.network/allele/PA2825767799", "coordinates": [ { "allele": "T", "end": 4027, "referenceAllele": "C", "start": 4026 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130985.1:c.3886C>T" ], "proteinEffect": { "hgvs": "NP_001124457.1:p.Gln1296Ter", "hgvsWellDefined": "NP_001124457.1:p.Gln1296_Ser2098delinsArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012154" }, { "@id": "http://reg.genome.network/allele/PA2825770018", "coordinates": [ { "allele": "T", "end": 3934, "referenceAllele": "C", "start": 3933 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130986.1:c.3793C>T" ], "proteinEffect": { "hgvs": "NP_001124458.1:p.Gln1265Ter", "hgvsWellDefined": "NP_001124458.1:p.Gln1265_Ser2067delinsArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012155" }, { "@id": "http://reg.genome.network/allele/PA645477689", "coordinates": [ { "allele": "T", "end": 4027, "referenceAllele": "C", "start": 4026 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130987.1:c.3886C>T" ], "proteinEffect": { "hgvs": "NP_001124459.1:p.Gln1296Ter", "hgvsWellDefined": "NP_001124459.1:p.Gln1296_Ser2119delinsArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012156" }, { "@id": "http://reg.genome.network/allele/PA233938", "coordinates": [ { "allele": "T", "end": 4208, "referenceAllele": "C", "start": 4207 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_003494.3:c.3832C>T" ], "proteinEffect": { "hgvs": "NP_003485.1:p.Gln1278Ter", "hgvsWellDefined": "NP_003485.1:p.Gln1278_Ser2080delinsArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS028733" }, { "coordinates": [ { "allele": "T", "end": 4068, "referenceAllele": "C", "start": 4067 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "XM_005264584.3:c.3928C>T" ], "proteinEffect": { "hgvs": "XP_005264641.1:p.Gln1310Ter", "hgvsWellDefined": "XP_005264641.1:p.Gln1310_Ser2133delinsArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064299" }, { "coordinates": [ { "allele": "T", "end": 4805, "referenceAllele": "C", "start": 4804 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "XM_005264585.3:c.3925C>T" ], "proteinEffect": { "hgvs": "XP_005264642.1:p.Gln1309Ter", "hgvsWellDefined": "XP_005264642.1:p.Gln1309_Ser2132delinsArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064300" }, { "coordinates": [ { "allele": "T", "end": 4084, "referenceAllele": "C", "start": 4083 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "XM_005264584.4:c.3928C>T" ], "proteinEffect": { "hgvs": "XP_005264641.1:p.Gln1310Ter", "hgvsWellDefined": "XP_005264641.1:p.Gln1310_Ser2133delinsArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535912" }, { "coordinates": [ { "allele": "T", "end": 4770, "referenceAllele": "C", "start": 4769 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "XM_005264585.5:c.3925C>T" ], "proteinEffect": { "hgvs": "XP_005264642.1:p.Gln1309Ter", "hgvsWellDefined": "XP_005264642.1:p.Gln1309_Ser2132delinsArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535913" }, { "coordinates": [ { "allele": "T", "end": 4086, "referenceAllele": "C", "start": 4085 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "XR_001738969.1:n.4086C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS589390" }, { "@id": "http://reg.genome.network/allele/PA645477689", "coordinates": [ { "allele": "T", "end": 4030, "referenceAllele": "C", "start": 4029 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130987.2:c.3886C>T" ], "proteinEffect": { "hgvs": "NP_001124459.1:p.Gln1296Ter", "hgvsWellDefined": "NP_001124459.1:p.Gln1296_Ser2119delinsArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS663608", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000410020.8:c.3886C>T" }, "RefSeq": { "hgvs": "NM_001130987.2:c.3886C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000386881.3:p.Gln1296Ter" }, "RefSeq": { "hgvs": "NP_001124459.1:p.Gln1296Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825694705", "coordinates": [ { "allele": "T", "end": 3979, "referenceAllele": "C", "start": 3978 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130455.2:c.3835C>T" ], "proteinEffect": { "hgvs": "NP_001123927.1:p.Gln1279Ter", "hgvsWellDefined": "NP_001123927.1:p.Gln1279_Ser2081delinsArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677114" }, { "@id": "http://reg.genome.network/allele/PA2825748095", "coordinates": [ { "allele": "T", "end": 4228, "referenceAllele": "C", "start": 4227 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130976.2:c.3790C>T" ], "proteinEffect": { "hgvs": "NP_001124448.1:p.Gln1264Ter", "hgvsWellDefined": "NP_001124448.1:p.Gln1264_Ser2066delinsArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677174" }, { "@id": "http://reg.genome.network/allele/PA2825750354", "coordinates": [ { "allele": "T", "end": 4228, "referenceAllele": "C", "start": 4227 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130977.2:c.3790C>T" ], "proteinEffect": { "hgvs": "NP_001124449.1:p.Gln1264Ter", "hgvsWellDefined": "NP_001124449.1:p.Gln1264_Ser2087delinsArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677175" }, { "@id": "http://reg.genome.network/allele/PA2825752621", "coordinates": [ { "allele": "T", "end": 4270, "referenceAllele": "C", "start": 4269 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130978.2:c.3832C>T" ], "proteinEffect": { "hgvs": "NP_001124450.1:p.Gln1278Ter", "hgvsWellDefined": "NP_001124450.1:p.Gln1278_Ser2101delinsArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677176" }, { "@id": "http://reg.genome.network/allele/PA2825754897", "coordinates": [ { "allele": "T", "end": 4363, "referenceAllele": "C", "start": 4362 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130979.2:c.3925C>T" ], "proteinEffect": { "hgvs": "NP_001124451.1:p.Gln1309Ter", "hgvsWellDefined": "NP_001124451.1:p.Gln1309_Ser2111delinsArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677177" }, { "@id": "http://reg.genome.network/allele/PA2825757161", "coordinates": [ { "allele": "T", "end": 4321, "referenceAllele": "C", "start": 4320 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130980.2:c.3883C>T" ], "proteinEffect": { "hgvs": "NP_001124452.1:p.Gln1295Ter", "hgvsWellDefined": "NP_001124452.1:p.Gln1295_Ser2097delinsArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677178" }, { "@id": "http://reg.genome.network/allele/PA2825759427", "coordinates": [ { "allele": "T", "end": 4321, "referenceAllele": "C", "start": 4320 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130981.2:c.3883C>T" ], "proteinEffect": { "hgvs": "NP_001124453.1:p.Gln1295Ter", "hgvsWellDefined": "NP_001124453.1:p.Gln1295_Ser2118delinsArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677179" }, { "@id": "http://reg.genome.network/allele/PA915974080", "coordinates": [ { "allele": "T", "end": 4072, "referenceAllele": "C", "start": 4071 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130982.2:c.3928C>T" ], "proteinEffect": { "hgvs": "NP_001124454.1:p.Gln1310Ter", "hgvsWellDefined": "NP_001124454.1:p.Gln1310_Ser2112delinsArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677180" }, { "@id": "http://reg.genome.network/allele/PA2825763321", "coordinates": [ { "allele": "T", "end": 3979, "referenceAllele": "C", "start": 3978 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130983.2:c.3835C>T" ], "proteinEffect": { "hgvs": "NP_001124455.1:p.Gln1279Ter", "hgvsWellDefined": "NP_001124455.1:p.Gln1279_Ser2102delinsArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677181" }, { "@id": "http://reg.genome.network/allele/PA2825765557", "coordinates": [ { "allele": "T", "end": 3937, "referenceAllele": "C", "start": 3936 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130984.2:c.3793C>T" ], "proteinEffect": { "hgvs": "NP_001124456.1:p.Gln1265Ter", "hgvsWellDefined": "NP_001124456.1:p.Gln1265_Ser2088delinsArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnLeuAlaAspGlyLeuSerSerLeuAlaProThrAsnThrAlaSerProProSerSerProHisGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677182" }, { "@id": "http://reg.genome.network/allele/PA2825767799", "coordinates": [ { "allele": "T", "end": 4030, "referenceAllele": "C", "start": 4029 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130985.2:c.3886C>T" ], "proteinEffect": { "hgvs": "NP_001124457.1:p.Gln1296Ter", "hgvsWellDefined": "NP_001124457.1:p.Gln1296_Ser2098delinsArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677183" }, { "@id": "http://reg.genome.network/allele/PA2825770018", "coordinates": [ { "allele": "T", "end": 3937, "referenceAllele": "C", "start": 3936 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130986.2:c.3793C>T" ], "proteinEffect": { "hgvs": "NP_001124458.1:p.Gln1265Ter", "hgvsWellDefined": "NP_001124458.1:p.Gln1265_Ser2067delinsArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677184" }, { "@id": "http://reg.genome.network/allele/PA233938", "coordinates": [ { "allele": "T", "end": 4270, "referenceAllele": "C", "start": 4269 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_003494.4:c.3832C>T" ], "proteinEffect": { "hgvs": "NP_003485.1:p.Gln1278Ter", "hgvsWellDefined": "NP_003485.1:p.Gln1278_Ser2080delinsArgGluLysProAlaIleHisHisIleProGlyPheGluValGlnGluThrSerArgIleLeuAspGluSerGluAspThrAspLeuProTyrProProProGlnArgGluAlaAsnIleTyrMetValProGlnAsnIleLysProAlaLeuGlnArgThrAlaIleGluIleLeuAlaTrpGlyLeuArgAsnMetLysSerTyrGlnLeuAlaAsnIleSerSerProSerLeuValValGluCysGlyGlyGlnThrValGlnSerCysValIleArgAsnLeuArgLysAsnProAsnPheAspIleCysThrLeuPheMetGluValMetLeuProArgGluGluLeuTyrCysProProIleThrValLysValIleAspAsnArgGlnPheGlyArgArgProValValGlyGlnCysThrIleArgSerLeuGluSerPheLeuCysAspProTyrSerAlaGluSerProSerProGlnGlyGlyProAspAspValSerLeuLeuSerProGlyGluAspValLeuIleAspIleAspAspLysGluProLeuIleProIleGlnGluGluGluPheIleAspTrpTrpSerLysPhePheAlaSerIleGlyGluArgGluLysCysGlySerTyrLeuGluLysAspPheAspThrLeuLysValTyrAspThrGlnLeuGluAsnValGluAlaPheGluGlyLeuSerAspPheCysAsnThrPheLysLeuTyrArgGlyLysThrGlnGluGluThrGluAspProSerValIleGlyGluPheLysGlyLeuPheLysIleTyrProLeuProGluAspProAlaIleProMetProProArgGlnPheHisGlnLeuAlaAlaGlnGlyProGlnGluCysLeuValArgIleTyrIleValArgAlaPheGlyLeuGlnProLysAspProAsnGlyLysCysAspProTyrIleLysIleSerIleGlyLysLysSerValSerAspGlnAspAsnTyrIleProCysThrLeuGluProValPheGlyLysMetPheGluLeuThrCysThrLeuProLeuGluLysAspLeuLysIleThrLeuTyrAspTyrAspLeuLeuSerLysAspGluLysIleGlyGluThrValValAspLeuGluAsnArgLeuLeuSerLysPheGlyAlaArgCysGlyLeuProGlnThrTyrCysValSerGlyProAsnGlnTrpArgAspGlnLeuArgProSerGlnLeuLeuHisLeuPheCysGlnGlnHisArgValLysAlaProValTyrArgThrAspArgValMetPheGlnAspLysGluTyrSerIleGluGluIleGluAlaGlyArgIleProAsnProHisLeuGlyProValGluGluArgLeuAlaLeuHisValLeuGlnGlnGlnGlyLeuValProGluHisValGluSerArgProLeuTyrSerProLeuGlnProAspIleGluGlnGlyLysLeuGlnMetTrpValAspLeuPheProLysAlaLeuGlyArgProGlyProProPheAsnIleThrProArgArgAlaArgArgPhePheLeuArgCysIleIleTrpAsnThrArgAspValIleLeuAspAspLeuSerLeuThrGlyGluLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695850", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000258104.8:c.3832C>T" }, "RefSeq": { "hgvs": "NM_003494.4:c.3832C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000258104.3:p.Gln1278Ter" }, "RefSeq": { "hgvs": "NP_003485.1:p.Gln1278Ter" } } } } ], "type": "nucleotide" }