{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA406494896", "communityStandardTitle": [ "NM_024301.5(FKRP):c.217C>T (p.Gln73Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2835826[alleleid]", "alleleId": 2835826, "preferredName": "NM_024301.5(FKRP):c.217C>T (p.Gln73Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2675706", "RCV": [ "RCV003468201", "RCV003755044" ], "variationId": 2675706 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.47258924C>T?assembly=hg19", "id": "chr19:g.47258924C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.46755667C>T?assembly=hg38", "id": "chr19:g.46755667C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2513986224", "rs": 2513986224 } ], "gnomAD_4": [ { "@id": 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"XP_005259304.1:p.Gln73_Gly495delinsAspProAlaGlnProValValValAlaAlaAspThrLeuProTyrProProLeuAlaLeuProArgIleProAsnValArgLeuAlaLeuLeuGlnProAlaLeuAspArgProAlaAlaAlaSerArgProGluThrTyrValAlaThrGluPheValAlaLeuValProAspGlyAlaArgAlaGluAlaProGlyLeuLeuGluArgMetValGluAlaLeuArgAlaGlySerAlaArgLeuValAlaAlaProValAlaThrAlaAsnProAlaArgCysLeuAlaLeuAsnValSerLeuArgGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS062349" }, { "coordinates": [ { "allele": "T", "end": 586, "referenceAllele": "C", "start": 585 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_005259248.1:c.217C>T" ], "proteinEffect": { "hgvs": "XP_005259305.1:p.Gln73Ter", "hgvsWellDefined": "XP_005259305.1:p.Gln73_Gly495delinsAspProAlaGlnProValValValAlaAlaAspThrLeuProTyrProProLeuAlaLeuProArgIleProAsnValArgLeuAlaLeuLeuGlnProAlaLeuAspArgProAlaAlaAlaSerArgProGluThrTyrValAlaThrGluPheValAlaLeuValProAspGlyAlaArgAlaGluAlaProGlyLeuLeuGluArgMetValGluAlaLeuArgAlaGlySerAlaArgLeuValAlaAlaProValAlaThrAlaAsnProAlaArgCysLeuAlaLeuAsnValSerLeuArgGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS062350" }, { "coordinates": [ { "allele": "T", "end": 564, "referenceAllele": "C", "start": 563 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_005259249.3:c.217C>T" ], "proteinEffect": { "hgvs": "XP_005259306.1:p.Gln73Ter", "hgvsWellDefined": "XP_005259306.1:p.Gln73_Gly495delinsAspProAlaGlnProValValValAlaAlaAspThrLeuProTyrProProLeuAlaLeuProArgIleProAsnValArgLeuAlaLeuLeuGlnProAlaLeuAspArgProAlaAlaAlaSerArgProGluThrTyrValAlaThrGluPheValAlaLeuValProAspGlyAlaArgAlaGluAlaProGlyLeuLeuGluArgMetValGluAlaLeuArgAlaGlySerAlaArgLeuValAlaAlaProValAlaThrAlaAsnProAlaArgCysLeuAlaLeuAsnValSerLeuArgGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS062351" }, { "coordinates": [ { "allele": "T", "end": 612, "referenceAllele": "C", "start": 611 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_005259250.3:c.217C>T" ], "proteinEffect": { "hgvs": "XP_005259307.1:p.Gln73Ter", "hgvsWellDefined": "XP_005259307.1:p.Gln73_Gly495delinsAspProAlaGlnProValValValAlaAlaAspThrLeuProTyrProProLeuAlaLeuProArgIleProAsnValArgLeuAlaLeuLeuGlnProAlaLeuAspArgProAlaAlaAlaSerArgProGluThrTyrValAlaThrGluPheValAlaLeuValProAspGlyAlaArgAlaGluAlaProGlyLeuLeuGluArgMetValGluAlaLeuArgAlaGlySerAlaArgLeuValAlaAlaProValAlaThrAlaAsnProAlaArgCysLeuAlaLeuAsnValSerLeuArgGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS062352" }, { "coordinates": [ { "allele": "T", "end": 908, "referenceAllele": "C", "start": 907 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527301.1:c.217C>T" ], "proteinEffect": { "hgvs": "XP_011525603.1:p.Gln73Ter", "hgvsWellDefined": "XP_011525603.1:p.Gln73_Gly495delinsAspProAlaGlnProValValValAlaAlaAspThrLeuProTyrProProLeuAlaLeuProArgIleProAsnValArgLeuAlaLeuLeuGlnProAlaLeuAspArgProAlaAlaAlaSerArgProGluThrTyrValAlaThrGluPheValAlaLeuValProAspGlyAlaArgAlaGluAlaProGlyLeuLeuGluArgMetValGluAlaLeuArgAlaGlySerAlaArgLeuValAlaAlaProValAlaThrAlaAsnProAlaArgCysLeuAlaLeuAsnValSerLeuArgGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS094395" }, { "coordinates": [ { "allele": "T", "end": 897, "referenceAllele": "C", "start": 896 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527302.1:c.217C>T" ], "proteinEffect": { "hgvs": "XP_011525604.1:p.Gln73Ter", "hgvsWellDefined": "XP_011525604.1:p.Gln73_Gly495delinsAspProAlaGlnProValValValAlaAlaAspThrLeuProTyrProProLeuAlaLeuProArgIleProAsnValArgLeuAlaLeuLeuGlnProAlaLeuAspArgProAlaAlaAlaSerArgProGluThrTyrValAlaThrGluPheValAlaLeuValProAspGlyAlaArgAlaGluAlaProGlyLeuLeuGluArgMetValGluAlaLeuArgAlaGlySerAlaArgLeuValAlaAlaProValAlaThrAlaAsnProAlaArgCysLeuAlaLeuAsnValSerLeuArgGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS094396" }, { "coordinates": [ { "allele": "T", "end": 710, "referenceAllele": "C", "start": 709 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527303.1:c.217C>T" ], "proteinEffect": { "hgvs": "XP_011525605.1:p.Gln73Ter", "hgvsWellDefined": "XP_011525605.1:p.Gln73_Gly495delinsAspProAlaGlnProValValValAlaAlaAspThrLeuProTyrProProLeuAlaLeuProArgIleProAsnValArgLeuAlaLeuLeuGlnProAlaLeuAspArgProAlaAlaAlaSerArgProGluThrTyrValAlaThrGluPheValAlaLeuValProAspGlyAlaArgAlaGluAlaProGlyLeuLeuGluArgMetValGluAlaLeuArgAlaGlySerAlaArgLeuValAlaAlaProValAlaThrAlaAsnProAlaArgCysLeuAlaLeuAsnValSerLeuArgGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS094397" }, { "coordinates": [ { "allele": "T", "end": 648, "referenceAllele": "C", "start": 647 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527304.1:c.217C>T" ], "proteinEffect": { "hgvs": "XP_011525606.1:p.Gln73Ter", "hgvsWellDefined": "XP_011525606.1:p.Gln73_Gly495delinsAspProAlaGlnProValValValAlaAlaAspThrLeuProTyrProProLeuAlaLeuProArgIleProAsnValArgLeuAlaLeuLeuGlnProAlaLeuAspArgProAlaAlaAlaSerArgProGluThrTyrValAlaThrGluPheValAlaLeuValProAspGlyAlaArgAlaGluAlaProGlyLeuLeuGluArgMetValGluAlaLeuArgAlaGlySerAlaArgLeuValAlaAlaProValAlaThrAlaAsnProAlaArgCysLeuAlaLeuAsnValSerLeuArgGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS094398" }, { "coordinates": [ { "allele": "T", "end": 494, "referenceAllele": "C", "start": 493 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527305.1:c.217C>T" ], "proteinEffect": { "hgvs": "XP_011525607.1:p.Gln73Ter", "hgvsWellDefined": "XP_011525607.1:p.Gln73_Gly495delinsAspProAlaGlnProValValValAlaAlaAspThrLeuProTyrProProLeuAlaLeuProArgIleProAsnValArgLeuAlaLeuLeuGlnProAlaLeuAspArgProAlaAlaAlaSerArgProGluThrTyrValAlaThrGluPheValAlaLeuValProAspGlyAlaArgAlaGluAlaProGlyLeuLeuGluArgMetValGluAlaLeuArgAlaGlySerAlaArgLeuValAlaAlaProValAlaThrAlaAsnProAlaArgCysLeuAlaLeuAsnValSerLeuArgGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS094399" }, { "coordinates": [ { "allele": "T", "end": 363, "referenceAllele": "C", "start": 362 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527306.1:c.217C>T" ], "proteinEffect": { "hgvs": "XP_011525608.1:p.Gln73Ter", "hgvsWellDefined": "XP_011525608.1:p.Gln73_Gly495delinsAspProAlaGlnProValValValAlaAlaAspThrLeuProTyrProProLeuAlaLeuProArgIleProAsnValArgLeuAlaLeuLeuGlnProAlaLeuAspArgProAlaAlaAlaSerArgProGluThrTyrValAlaThrGluPheValAlaLeuValProAspGlyAlaArgAlaGluAlaProGlyLeuLeuGluArgMetValGluAlaLeuArgAlaGlySerAlaArgLeuValAlaAlaProValAlaThrAlaAsnProAlaArgCysLeuAlaLeuAsnValSerLeuArgGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS094400" }, { "coordinates": [ { "allele": "T", "end": 412, "referenceAllele": "C", "start": 411 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527307.1:c.217C>T" ], "proteinEffect": { "hgvs": "XP_011525609.1:p.Gln73Ter", "hgvsWellDefined": "XP_011525609.1:p.Gln73_Gly495delinsAspProAlaGlnProValValValAlaAlaAspThrLeuProTyrProProLeuAlaLeuProArgIleProAsnValArgLeuAlaLeuLeuGlnProAlaLeuAspArgProAlaAlaAlaSerArgProGluThrTyrValAlaThrGluPheValAlaLeuValProAspGlyAlaArgAlaGluAlaProGlyLeuLeuGluArgMetValGluAlaLeuArgAlaGlySerAlaArgLeuValAlaAlaProValAlaThrAlaAsnProAlaArgCysLeuAlaLeuAsnValSerLeuArgGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS094401" }, { "coordinates": [ { "allele": "T", "end": 627, "referenceAllele": "C", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_005259247.2:c.217C>T" ], "proteinEffect": { "hgvs": "XP_005259304.1:p.Gln73Ter", "hgvsWellDefined": "XP_005259304.1:p.Gln73_Gly495delinsAspProAlaGlnProValValValAlaAlaAspThrLeuProTyrProProLeuAlaLeuProArgIleProAsnValArgLeuAlaLeuLeuGlnProAlaLeuAspArgProAlaAlaAlaSerArgProGluThrTyrValAlaThrGluPheValAlaLeuValProAspGlyAlaArgAlaGluAlaProGlyLeuLeuGluArgMetValGluAlaLeuArgAlaGlySerAlaArgLeuValAlaAlaProValAlaThrAlaAsnProAlaArgCysLeuAlaLeuAsnValSerLeuArgGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534968" }, { "coordinates": [ { "allele": "T", "end": 617, "referenceAllele": "C", "start": 616 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_005259248.2:c.217C>T" ], "proteinEffect": { "hgvs": "XP_005259305.1:p.Gln73Ter", "hgvsWellDefined": "XP_005259305.1:p.Gln73_Gly495delinsAspProAlaGlnProValValValAlaAlaAspThrLeuProTyrProProLeuAlaLeuProArgIleProAsnValArgLeuAlaLeuLeuGlnProAlaLeuAspArgProAlaAlaAlaSerArgProGluThrTyrValAlaThrGluPheValAlaLeuValProAspGlyAlaArgAlaGluAlaProGlyLeuLeuGluArgMetValGluAlaLeuArgAlaGlySerAlaArgLeuValAlaAlaProValAlaThrAlaAsnProAlaArgCysLeuAlaLeuAsnValSerLeuArgGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534969" }, { "coordinates": [ { "allele": "T", "end": 559, "referenceAllele": "C", "start": 558 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_005259249.4:c.217C>T" ], "proteinEffect": { "hgvs": "XP_005259306.1:p.Gln73Ter", "hgvsWellDefined": "XP_005259306.1:p.Gln73_Gly495delinsAspProAlaGlnProValValValAlaAlaAspThrLeuProTyrProProLeuAlaLeuProArgIleProAsnValArgLeuAlaLeuLeuGlnProAlaLeuAspArgProAlaAlaAlaSerArgProGluThrTyrValAlaThrGluPheValAlaLeuValProAspGlyAlaArgAlaGluAlaProGlyLeuLeuGluArgMetValGluAlaLeuArgAlaGlySerAlaArgLeuValAlaAlaProValAlaThrAlaAsnProAlaArgCysLeuAlaLeuAsnValSerLeuArgGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534970" }, { "coordinates": [ { "allele": "T", "end": 352, "referenceAllele": "C", "start": 351 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527306.2:c.217C>T" ], "proteinEffect": { "hgvs": "XP_011525608.1:p.Gln73Ter", "hgvsWellDefined": "XP_011525608.1:p.Gln73_Gly495delinsAspProAlaGlnProValValValAlaAlaAspThrLeuProTyrProProLeuAlaLeuProArgIleProAsnValArgLeuAlaLeuLeuGlnProAlaLeuAspArgProAlaAlaAlaSerArgProGluThrTyrValAlaThrGluPheValAlaLeuValProAspGlyAlaArgAlaGluAlaProGlyLeuLeuGluArgMetValGluAlaLeuArgAlaGlySerAlaArgLeuValAlaAlaProValAlaThrAlaAsnProAlaArgCysLeuAlaLeuAsnValSerLeuArgGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS548617" }, { "coordinates": [ { "allele": "T", "end": 722, "referenceAllele": "C", "start": 721 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_017027297.2:c.217C>T" ], "proteinEffect": { "hgvs": "XP_016882786.1:p.Gln73Ter", "hgvsWellDefined": "XP_016882786.1:p.Gln73_Gly495delinsAspProAlaGlnProValValValAlaAlaAspThrLeuProTyrProProLeuAlaLeuProArgIleProAsnValArgLeuAlaLeuLeuGlnProAlaLeuAspArgProAlaAlaAlaSerArgProGluThrTyrValAlaThrGluPheValAlaLeuValProAspGlyAlaArgAlaGluAlaProGlyLeuLeuGluArgMetValGluAlaLeuArgAlaGlySerAlaArgLeuValAlaAlaProValAlaThrAlaAsnProAlaArgCysLeuAlaLeuAsnValSerLeuArgGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS577270" }, { "coordinates": [ { "allele": "T", "end": 424, "referenceAllele": "C", "start": 423 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_024451707.1:c.217C>T" ], "proteinEffect": { "hgvs": "XP_024307475.1:p.Gln73Ter", "hgvsWellDefined": "XP_024307475.1:p.Gln73_Gly495delinsAspProAlaGlnProValValValAlaAlaAspThrLeuProTyrProProLeuAlaLeuProArgIleProAsnValArgLeuAlaLeuLeuGlnProAlaLeuAspArgProAlaAlaAlaSerArgProGluThrTyrValAlaThrGluPheValAlaLeuValProAspGlyAlaArgAlaGluAlaProGlyLeuLeuGluArgMetValGluAlaLeuArgAlaGlySerAlaArgLeuValAlaAlaProValAlaThrAlaAsnProAlaArgCysLeuAlaLeuAsnValSerLeuArgGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS585218" }, { "@id": "http://reg.genome.network/allele/PA2825388086", "coordinates": [ { "allele": "T", "end": 555, "referenceAllele": "C", "start": 554 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "NM_001039885.3:c.217C>T" ], "proteinEffect": { "hgvs": "NP_001034974.1:p.Gln73Ter", "hgvsWellDefined": "NP_001034974.1:p.Gln73_Gly495delinsAspProAlaGlnProValValValAlaAlaAspThrLeuProTyrProProLeuAlaLeuProArgIleProAsnValArgLeuAlaLeuLeuGlnProAlaLeuAspArgProAlaAlaAlaSerArgProGluThrTyrValAlaThrGluPheValAlaLeuValProAspGlyAlaArgAlaGluAlaProGlyLeuLeuGluArgMetValGluAlaLeuArgAlaGlySerAlaArgLeuValAlaAlaProValAlaThrAlaAsnProAlaArgCysLeuAlaLeuAsnValSerLeuArgGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675931" }, { "@id": "http://reg.genome.network/allele/PA2741985229", "coordinates": [ { "allele": "T", "end": 503, "referenceAllele": "C", "start": 502 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "NM_024301.5:c.217C>T" ], "proteinEffect": { "hgvs": "NP_077277.1:p.Gln73Ter", "hgvsWellDefined": "NP_077277.1:p.Gln73_Gly495delinsAspProAlaGlnProValValValAlaAlaAspThrLeuProTyrProProLeuAlaLeuProArgIleProAsnValArgLeuAlaLeuLeuGlnProAlaLeuAspArgProAlaAlaAlaSerArgProGluThrTyrValAlaThrGluPheValAlaLeuValProAspGlyAlaArgAlaGluAlaProGlyLeuLeuGluArgMetValGluAlaLeuArgAlaGlySerAlaArgLeuValAlaAlaProValAlaThrAlaAsnProAlaArgCysLeuAlaLeuAsnValSerLeuArgGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698678", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000318584.10:c.217C>T" }, "RefSeq": { "hgvs": "NM_024301.5:c.217C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000326570.4:p.Gln73Ter" }, "RefSeq": { "hgvs": "NP_077277.1:p.Gln73Ter" } } } } ], "type": "nucleotide" }