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"XP_005259304.1:p.Gln77_Gly495delinsProValValValAlaAlaAspThrLeuProTyrProProLeuAlaLeuProArgIleProAsnValArgLeuAlaLeuLeuGlnProAlaLeuAspArgProAlaAlaAlaSerArgProGluThrTyrValAlaThrGluPheValAlaLeuValProAspGlyAlaArgAlaGluAlaProGlyLeuLeuGluArgMetValGluAlaLeuArgAlaGlySerAlaArgLeuValAlaAlaProValAlaThrAlaAsnProAlaArgCysLeuAlaLeuAsnValSerLeuArgGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS062349" }, { "coordinates": [ { "allele": "T", "end": 598, "referenceAllele": "C", "start": 597 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_005259248.1:c.229C>T" ], "proteinEffect": { "hgvs": "XP_005259305.1:p.Gln77Ter", "hgvsWellDefined": "XP_005259305.1:p.Gln77_Gly495delinsProValValValAlaAlaAspThrLeuProTyrProProLeuAlaLeuProArgIleProAsnValArgLeuAlaLeuLeuGlnProAlaLeuAspArgProAlaAlaAlaSerArgProGluThrTyrValAlaThrGluPheValAlaLeuValProAspGlyAlaArgAlaGluAlaProGlyLeuLeuGluArgMetValGluAlaLeuArgAlaGlySerAlaArgLeuValAlaAlaProValAlaThrAlaAsnProAlaArgCysLeuAlaLeuAsnValSerLeuArgGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS062350" }, { "coordinates": [ { "allele": "T", "end": 576, "referenceAllele": "C", "start": 575 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_005259249.3:c.229C>T" ], "proteinEffect": { "hgvs": "XP_005259306.1:p.Gln77Ter", "hgvsWellDefined": "XP_005259306.1:p.Gln77_Gly495delinsProValValValAlaAlaAspThrLeuProTyrProProLeuAlaLeuProArgIleProAsnValArgLeuAlaLeuLeuGlnProAlaLeuAspArgProAlaAlaAlaSerArgProGluThrTyrValAlaThrGluPheValAlaLeuValProAspGlyAlaArgAlaGluAlaProGlyLeuLeuGluArgMetValGluAlaLeuArgAlaGlySerAlaArgLeuValAlaAlaProValAlaThrAlaAsnProAlaArgCysLeuAlaLeuAsnValSerLeuArgGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS062351" }, { "coordinates": [ { "allele": "T", "end": 624, "referenceAllele": "C", "start": 623 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_005259250.3:c.229C>T" ], "proteinEffect": { "hgvs": "XP_005259307.1:p.Gln77Ter", "hgvsWellDefined": "XP_005259307.1:p.Gln77_Gly495delinsProValValValAlaAlaAspThrLeuProTyrProProLeuAlaLeuProArgIleProAsnValArgLeuAlaLeuLeuGlnProAlaLeuAspArgProAlaAlaAlaSerArgProGluThrTyrValAlaThrGluPheValAlaLeuValProAspGlyAlaArgAlaGluAlaProGlyLeuLeuGluArgMetValGluAlaLeuArgAlaGlySerAlaArgLeuValAlaAlaProValAlaThrAlaAsnProAlaArgCysLeuAlaLeuAsnValSerLeuArgGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS062352" }, { "coordinates": [ { "allele": "T", "end": 920, "referenceAllele": "C", "start": 919 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527301.1:c.229C>T" ], "proteinEffect": { "hgvs": "XP_011525603.1:p.Gln77Ter", "hgvsWellDefined": "XP_011525603.1:p.Gln77_Gly495delinsProValValValAlaAlaAspThrLeuProTyrProProLeuAlaLeuProArgIleProAsnValArgLeuAlaLeuLeuGlnProAlaLeuAspArgProAlaAlaAlaSerArgProGluThrTyrValAlaThrGluPheValAlaLeuValProAspGlyAlaArgAlaGluAlaProGlyLeuLeuGluArgMetValGluAlaLeuArgAlaGlySerAlaArgLeuValAlaAlaProValAlaThrAlaAsnProAlaArgCysLeuAlaLeuAsnValSerLeuArgGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS094395" }, { "coordinates": [ { "allele": "T", "end": 909, "referenceAllele": "C", "start": 908 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527302.1:c.229C>T" ], "proteinEffect": { "hgvs": "XP_011525604.1:p.Gln77Ter", "hgvsWellDefined": "XP_011525604.1:p.Gln77_Gly495delinsProValValValAlaAlaAspThrLeuProTyrProProLeuAlaLeuProArgIleProAsnValArgLeuAlaLeuLeuGlnProAlaLeuAspArgProAlaAlaAlaSerArgProGluThrTyrValAlaThrGluPheValAlaLeuValProAspGlyAlaArgAlaGluAlaProGlyLeuLeuGluArgMetValGluAlaLeuArgAlaGlySerAlaArgLeuValAlaAlaProValAlaThrAlaAsnProAlaArgCysLeuAlaLeuAsnValSerLeuArgGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS094396" }, { "coordinates": [ { "allele": "T", "end": 722, "referenceAllele": "C", "start": 721 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527303.1:c.229C>T" ], "proteinEffect": { "hgvs": "XP_011525605.1:p.Gln77Ter", "hgvsWellDefined": "XP_011525605.1:p.Gln77_Gly495delinsProValValValAlaAlaAspThrLeuProTyrProProLeuAlaLeuProArgIleProAsnValArgLeuAlaLeuLeuGlnProAlaLeuAspArgProAlaAlaAlaSerArgProGluThrTyrValAlaThrGluPheValAlaLeuValProAspGlyAlaArgAlaGluAlaProGlyLeuLeuGluArgMetValGluAlaLeuArgAlaGlySerAlaArgLeuValAlaAlaProValAlaThrAlaAsnProAlaArgCysLeuAlaLeuAsnValSerLeuArgGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS094397" }, { "coordinates": [ { "allele": "T", "end": 660, "referenceAllele": "C", "start": 659 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527304.1:c.229C>T" ], "proteinEffect": { "hgvs": "XP_011525606.1:p.Gln77Ter", "hgvsWellDefined": "XP_011525606.1:p.Gln77_Gly495delinsProValValValAlaAlaAspThrLeuProTyrProProLeuAlaLeuProArgIleProAsnValArgLeuAlaLeuLeuGlnProAlaLeuAspArgProAlaAlaAlaSerArgProGluThrTyrValAlaThrGluPheValAlaLeuValProAspGlyAlaArgAlaGluAlaProGlyLeuLeuGluArgMetValGluAlaLeuArgAlaGlySerAlaArgLeuValAlaAlaProValAlaThrAlaAsnProAlaArgCysLeuAlaLeuAsnValSerLeuArgGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS094398" }, { "coordinates": [ { "allele": "T", "end": 506, "referenceAllele": "C", "start": 505 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527305.1:c.229C>T" ], "proteinEffect": { "hgvs": "XP_011525607.1:p.Gln77Ter", "hgvsWellDefined": "XP_011525607.1:p.Gln77_Gly495delinsProValValValAlaAlaAspThrLeuProTyrProProLeuAlaLeuProArgIleProAsnValArgLeuAlaLeuLeuGlnProAlaLeuAspArgProAlaAlaAlaSerArgProGluThrTyrValAlaThrGluPheValAlaLeuValProAspGlyAlaArgAlaGluAlaProGlyLeuLeuGluArgMetValGluAlaLeuArgAlaGlySerAlaArgLeuValAlaAlaProValAlaThrAlaAsnProAlaArgCysLeuAlaLeuAsnValSerLeuArgGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS094399" }, { "coordinates": [ { "allele": "T", "end": 375, "referenceAllele": "C", "start": 374 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527306.1:c.229C>T" ], "proteinEffect": { "hgvs": "XP_011525608.1:p.Gln77Ter", "hgvsWellDefined": "XP_011525608.1:p.Gln77_Gly495delinsProValValValAlaAlaAspThrLeuProTyrProProLeuAlaLeuProArgIleProAsnValArgLeuAlaLeuLeuGlnProAlaLeuAspArgProAlaAlaAlaSerArgProGluThrTyrValAlaThrGluPheValAlaLeuValProAspGlyAlaArgAlaGluAlaProGlyLeuLeuGluArgMetValGluAlaLeuArgAlaGlySerAlaArgLeuValAlaAlaProValAlaThrAlaAsnProAlaArgCysLeuAlaLeuAsnValSerLeuArgGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS094400" }, { "coordinates": [ { "allele": "T", "end": 424, "referenceAllele": "C", "start": 423 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527307.1:c.229C>T" ], "proteinEffect": { "hgvs": "XP_011525609.1:p.Gln77Ter", "hgvsWellDefined": "XP_011525609.1:p.Gln77_Gly495delinsProValValValAlaAlaAspThrLeuProTyrProProLeuAlaLeuProArgIleProAsnValArgLeuAlaLeuLeuGlnProAlaLeuAspArgProAlaAlaAlaSerArgProGluThrTyrValAlaThrGluPheValAlaLeuValProAspGlyAlaArgAlaGluAlaProGlyLeuLeuGluArgMetValGluAlaLeuArgAlaGlySerAlaArgLeuValAlaAlaProValAlaThrAlaAsnProAlaArgCysLeuAlaLeuAsnValSerLeuArgGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS094401" }, { "coordinates": [ { "allele": "T", "end": 639, "referenceAllele": "C", "start": 638 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_005259247.2:c.229C>T" ], "proteinEffect": { "hgvs": "XP_005259304.1:p.Gln77Ter", "hgvsWellDefined": "XP_005259304.1:p.Gln77_Gly495delinsProValValValAlaAlaAspThrLeuProTyrProProLeuAlaLeuProArgIleProAsnValArgLeuAlaLeuLeuGlnProAlaLeuAspArgProAlaAlaAlaSerArgProGluThrTyrValAlaThrGluPheValAlaLeuValProAspGlyAlaArgAlaGluAlaProGlyLeuLeuGluArgMetValGluAlaLeuArgAlaGlySerAlaArgLeuValAlaAlaProValAlaThrAlaAsnProAlaArgCysLeuAlaLeuAsnValSerLeuArgGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534968" }, { "coordinates": [ { "allele": "T", "end": 629, "referenceAllele": "C", "start": 628 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_005259248.2:c.229C>T" ], "proteinEffect": { "hgvs": "XP_005259305.1:p.Gln77Ter", "hgvsWellDefined": "XP_005259305.1:p.Gln77_Gly495delinsProValValValAlaAlaAspThrLeuProTyrProProLeuAlaLeuProArgIleProAsnValArgLeuAlaLeuLeuGlnProAlaLeuAspArgProAlaAlaAlaSerArgProGluThrTyrValAlaThrGluPheValAlaLeuValProAspGlyAlaArgAlaGluAlaProGlyLeuLeuGluArgMetValGluAlaLeuArgAlaGlySerAlaArgLeuValAlaAlaProValAlaThrAlaAsnProAlaArgCysLeuAlaLeuAsnValSerLeuArgGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534969" }, { "coordinates": [ { "allele": "T", "end": 571, "referenceAllele": "C", "start": 570 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_005259249.4:c.229C>T" ], "proteinEffect": { "hgvs": "XP_005259306.1:p.Gln77Ter", "hgvsWellDefined": "XP_005259306.1:p.Gln77_Gly495delinsProValValValAlaAlaAspThrLeuProTyrProProLeuAlaLeuProArgIleProAsnValArgLeuAlaLeuLeuGlnProAlaLeuAspArgProAlaAlaAlaSerArgProGluThrTyrValAlaThrGluPheValAlaLeuValProAspGlyAlaArgAlaGluAlaProGlyLeuLeuGluArgMetValGluAlaLeuArgAlaGlySerAlaArgLeuValAlaAlaProValAlaThrAlaAsnProAlaArgCysLeuAlaLeuAsnValSerLeuArgGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534970" }, { "coordinates": [ { "allele": "T", "end": 364, "referenceAllele": "C", "start": 363 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527306.2:c.229C>T" ], "proteinEffect": { "hgvs": "XP_011525608.1:p.Gln77Ter", "hgvsWellDefined": "XP_011525608.1:p.Gln77_Gly495delinsProValValValAlaAlaAspThrLeuProTyrProProLeuAlaLeuProArgIleProAsnValArgLeuAlaLeuLeuGlnProAlaLeuAspArgProAlaAlaAlaSerArgProGluThrTyrValAlaThrGluPheValAlaLeuValProAspGlyAlaArgAlaGluAlaProGlyLeuLeuGluArgMetValGluAlaLeuArgAlaGlySerAlaArgLeuValAlaAlaProValAlaThrAlaAsnProAlaArgCysLeuAlaLeuAsnValSerLeuArgGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS548617" }, { "coordinates": [ { "allele": "T", "end": 734, "referenceAllele": "C", "start": 733 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_017027297.2:c.229C>T" ], "proteinEffect": { "hgvs": "XP_016882786.1:p.Gln77Ter", "hgvsWellDefined": "XP_016882786.1:p.Gln77_Gly495delinsProValValValAlaAlaAspThrLeuProTyrProProLeuAlaLeuProArgIleProAsnValArgLeuAlaLeuLeuGlnProAlaLeuAspArgProAlaAlaAlaSerArgProGluThrTyrValAlaThrGluPheValAlaLeuValProAspGlyAlaArgAlaGluAlaProGlyLeuLeuGluArgMetValGluAlaLeuArgAlaGlySerAlaArgLeuValAlaAlaProValAlaThrAlaAsnProAlaArgCysLeuAlaLeuAsnValSerLeuArgGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS577270" }, { "coordinates": [ { "allele": "T", "end": 436, "referenceAllele": "C", "start": 435 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_024451707.1:c.229C>T" ], "proteinEffect": { "hgvs": "XP_024307475.1:p.Gln77Ter", "hgvsWellDefined": "XP_024307475.1:p.Gln77_Gly495delinsProValValValAlaAlaAspThrLeuProTyrProProLeuAlaLeuProArgIleProAsnValArgLeuAlaLeuLeuGlnProAlaLeuAspArgProAlaAlaAlaSerArgProGluThrTyrValAlaThrGluPheValAlaLeuValProAspGlyAlaArgAlaGluAlaProGlyLeuLeuGluArgMetValGluAlaLeuArgAlaGlySerAlaArgLeuValAlaAlaProValAlaThrAlaAsnProAlaArgCysLeuAlaLeuAsnValSerLeuArgGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS585218" }, { "@id": "http://reg.genome.network/allele/PA2825388091", "coordinates": [ { "allele": "T", "end": 567, "referenceAllele": "C", "start": 566 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "NM_001039885.3:c.229C>T" ], "proteinEffect": { "hgvs": "NP_001034974.1:p.Gln77Ter", "hgvsWellDefined": "NP_001034974.1:p.Gln77_Gly495delinsProValValValAlaAlaAspThrLeuProTyrProProLeuAlaLeuProArgIleProAsnValArgLeuAlaLeuLeuGlnProAlaLeuAspArgProAlaAlaAlaSerArgProGluThrTyrValAlaThrGluPheValAlaLeuValProAspGlyAlaArgAlaGluAlaProGlyLeuLeuGluArgMetValGluAlaLeuArgAlaGlySerAlaArgLeuValAlaAlaProValAlaThrAlaAsnProAlaArgCysLeuAlaLeuAsnValSerLeuArgGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675931" }, { "@id": "http://reg.genome.network/allele/PA2499289938", "coordinates": [ { "allele": "T", "end": 515, "referenceAllele": "C", "start": 514 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "NM_024301.5:c.229C>T" ], "proteinEffect": { "hgvs": "NP_077277.1:p.Gln77Ter", "hgvsWellDefined": "NP_077277.1:p.Gln77_Gly495delinsProValValValAlaAlaAspThrLeuProTyrProProLeuAlaLeuProArgIleProAsnValArgLeuAlaLeuLeuGlnProAlaLeuAspArgProAlaAlaAlaSerArgProGluThrTyrValAlaThrGluPheValAlaLeuValProAspGlyAlaArgAlaGluAlaProGlyLeuLeuGluArgMetValGluAlaLeuArgAlaGlySerAlaArgLeuValAlaAlaProValAlaThrAlaAsnProAlaArgCysLeuAlaLeuAsnValSerLeuArgGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698678", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000318584.10:c.229C>T" }, "RefSeq": { "hgvs": "NM_024301.5:c.229C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000326570.4:p.Gln77Ter" }, "RefSeq": { "hgvs": "NP_077277.1:p.Gln77Ter" } } } } ], "type": "nucleotide" }