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"XP_011519579.1:p.Arg1236_Leu1938delinsValLeuValGlyAlaCysSerCysLeuAlaProGluLeuSerArgLeuSerAlaCysGlnThrAlaAlaLeuLeuGlnThrPheArgValLysAspGlyValLysAsnMetGlyThrThrGlyAlaGlyProAlaValCysIleProGlyGlnProIleProThrThrTrpProAspCysLeuLeuProLeuLeuProLeuLysLeuLeuGlnLeuAspSerLeuAlaLeuLeuAlaAsnArgArgArgTyrTrpGluLeuProTrpSerGluGlnGlnAlaGlnPheLeuTrpLysLysMetGlnValProThrAsnLeuThrLeuArgAsnLeuGlnAlaLeuGlyThrLeuAlaGlyGlyMetSerCysGluPheLeuGlnGlnIleAsnSerMetValAspPheLeuGluValValHisMetIleTyrGlnLeuProThrArgValArgGlySerLeuArgAlaCysIleTrpAlaGluLeuGlnArgArgMetAlaMetProGluProGluTrpThrThrValGlyProGluLeuAsnGlyLeuAspSerLysLeuLeuLeuAspLeuProIleGlnLeuMetAspArgLeuSerAsnGluSerIleMetLeuValValGluLeuValGlnArgAlaProGluGlnLeuLeuAlaLeuThrProLeuHisGlnAlaAlaLeuAlaGluArgAlaLeuGlnAsnLeuAlaProLysGluThrProValSerGlyGluValLeuGluThrLeuGlyProLeuValGlyPheLeuGlyThrGluSerThrArgGlnIleProLeuGlnIleLeuLeuSerHisLeuSerGlnLeuGlnGlyPheCysLeuGlyGluThrPheAlaThrGluLeuGlyTrpLeuLeuLeuGlnGluSerValLeuGlyLysProGluLeuTrpSerGlnAspGluValGluGlnAlaGlyArgLeuValPheThrLeuSerThrGluAlaIleSerLeuIleProArgGluAlaLeuGlyProGluThrLeuGluArgLeuLeuGluLysGlnGlnSerTrpGluGlnSerArgValGlyGlnLeuCysArgGluProGlnLeuAlaAlaLysLysAlaAlaLeuValAlaGlyValValArgProAlaAlaGluAspLeuProGluProValProAsnCysAlaAspValArgGlyThrPheProAlaAlaTrpSerAlaThrGlnIleAlaGluMetGluLeuSerAspPheGluAspCysLeuThrLeuPheAlaGlyAspProGlyLeuGlyProGluGluLeuArgAlaAlaMetGlyLysAlaLysGlnLeuTrpGlyProProArgGlyPheArgProGluGlnIleLeuGlnLeuGlyArgLeuLeuIleGlyLeuGlyAspArgGluLeuGlnGluLeuIleLeuValAspTrpGlyValLeuSerThrLeuGlyGlnIleAspGlyTrpSerThrThrGlnLeuArgIleValValSerSerPheLeuArgGlnSerGlyArgHisValSerHisLeuAspPheValHisLeuThrAlaLeuGlyTyrThrLeuCysGlyLeuArgProGluGluLeuGlnHisIleSerSerTrpGluPheSerGlnAlaAlaLeuPheLeuGlyThrLeuHisLeuGlnCysSerGluGluGlnLeuGluValLeuAlaHisLeuLeuValLeuProGlyGlyPheGlyProIleSerAsnTrpGlyProGluIlePheThrGluIleGlyThrIleAlaAlaGlyIleProAspLeuAlaLeuSerAlaLeuLeuArgGlyGlnIleGlnGlyValThrProLeuAlaIleSerValIleProProProLysPheAlaValValPheSerProIleGlnLeuSerSerLeuThrSerAlaGlnAlaValAlaValThrProGluGlnMetAlaPheLeuSerProGluGlnArgArgAlaValAlaTrpAlaGlnHisGluGlyLysGluSerProGluGlnGlnGlyArgSerThrAlaTrpGlyLeuGlnAspTrpSerArgProSerTrpSerLeuValLeuThrIleSerPheLeuGlyHisLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088438" }, { "coordinates": [ { "allele": "T", "end": 4148, "referenceAllele": "C", "start": 4147 } ], "gene": "http://reg.genome.network/gene/GN016035", "geneNCBI_id": 161497, "geneSymbol": "STRC", "hgvs": [ "XM_011521278.1:c.3319C>T" ], "proteinEffect": { "hgvs": "XP_011519580.1:p.Arg1107Ter", "hgvsWellDefined": "XP_011519580.1:p.Arg1107_Leu1810delinsValLeuValGlyAlaCysSerCysLeuAlaProGluLeuSerArgLeuSerAlaCysGlnThrAlaAlaLeuLeuGlnThrPheArgValLysAspGlyValLysAsnMetGlyThrThrGlyAlaGlyProAlaValCysIleProGlyGlnGlnProIleProThrThrTrpProAspCysLeuLeuProLeuLeuProLeuLysLeuLeuGlnLeuAspSerLeuAlaLeuLeuAlaAsnArgArgArgTyrTrpGluLeuProTrpSerGluGlnGlnAlaGlnPheLeuTrpLysLysMetGlnValProThrAsnLeuThrLeuArgAsnLeuGlnAlaLeuGlyThrLeuAlaGlyGlyMetSerCysGluPheLeuGlnGlnIleAsnSerMetValAspPheLeuGluValValHisMetIleTyrGlnLeuProThrArgValArgGlySerLeuArgAlaCysIleTrpAlaGluLeuGlnArgArgMetAlaMetProGluProGluTrpThrThrValGlyProGluLeuAsnGlyLeuAspSerLysLeuLeuLeuAspLeuProIleGlnLeuMetAspArgLeuSerAsnGluSerIleMetLeuValValGluLeuValGlnArgAlaProGluGlnLeuLeuAlaLeuThrProLeuHisGlnAlaAlaLeuAlaGluArgAlaLeuGlnAsnLeuAlaProLysGluThrProValSerGlyGluValLeuGluThrLeuGlyProLeuValGlyPheLeuGlyThrGluSerThrArgGlnIleProLeuGlnIleLeuLeuSerHisLeuSerGlnLeuGlnGlyPheCysLeuGlyGluThrPheAlaThrGluLeuGlyTrpLeuLeuLeuGlnGluSerValLeuGlyLysProGluLeuTrpSerGlnAspGluValGluGlnAlaGlyArgLeuValPheThrLeuSerThrGluAlaIleSerLeuIleProArgGluAlaLeuGlyProGluThrLeuGluArgLeuLeuGluLysGlnGlnSerTrpGluGlnSerArgValGlyGlnLeuCysArgGluProGlnLeuAlaAlaLysLysAlaAlaLeuValAlaGlyValValArgProAlaAlaGluAspLeuProGluProValProAsnCysAlaAspValArgGlyThrPheProAlaAlaTrpSerAlaThrGlnIleAlaGluMetGluLeuSerAspPheGluAspCysLeuThrLeuPheAlaGlyAspProGlyLeuGlyProGluGluLeuArgAlaAlaMetGlyLysAlaLysGlnLeuTrpGlyProProArgGlyPheArgProGluGlnIleLeuGlnLeuGlyArgLeuLeuIleGlyLeuGlyAspArgGluLeuGlnGluLeuIleLeuValAspTrpGlyValLeuSerThrLeuGlyGlnIleAspGlyTrpSerThrThrGlnLeuArgIleValValSerSerPheLeuArgGlnSerGlyArgHisValSerHisLeuAspPheValHisLeuThrAlaLeuGlyTyrThrLeuCysGlyLeuArgProGluGluLeuGlnHisIleSerSerTrpGluPheSerGlnAlaAlaLeuPheLeuGlyThrLeuHisLeuGlnCysSerGluGluGlnLeuGluValLeuAlaHisLeuLeuValLeuProGlyGlyPheGlyProIleSerAsnTrpGlyProGluIlePheThrGluIleGlyThrIleAlaAlaGlyIleProAspLeuAlaLeuSerAlaLeuLeuArgGlyGlnIleGlnGlyValThrProLeuAlaIleSerValIleProProProLysPheAlaValValPheSerProIleGlnLeuSerSerLeuThrSerAlaGlnAlaValAlaValThrProGluGlnMetAlaPheLeuSerProGluGlnArgArgAlaValAlaTrpAlaGlnHisGluGlyLysGluSerProGluGlnGlnGlyArgSerThrAlaTrpGlyLeuGlnAspTrpSerArgProSerTrpSerLeuValLeuThrIleSerPheLeuGlyHisLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088439" }, { "coordinates": [ { "allele": "T", "end": 3843, "referenceAllele": "C", "start": 3842 } ], "gene": "http://reg.genome.network/gene/GN016035", "geneNCBI_id": 161497, "geneSymbol": "STRC", "hgvs": [ "XM_011521279.1:c.3319C>T" ], "proteinEffect": { "hgvs": "XP_011519581.1:p.Arg1107Ter", "hgvsWellDefined": "XP_011519581.1:p.Arg1107_Leu1810delinsValLeuValGlyAlaCysSerCysLeuAlaProGluLeuSerArgLeuSerAlaCysGlnThrAlaAlaLeuLeuGlnThrPheArgValLysAspGlyValLysAsnMetGlyThrThrGlyAlaGlyProAlaValCysIleProGlyGlnGlnProIleProThrThrTrpProAspCysLeuLeuProLeuLeuProLeuLysLeuLeuGlnLeuAspSerLeuAlaLeuLeuAlaAsnArgArgArgTyrTrpGluLeuProTrpSerGluGlnGlnAlaGlnPheLeuTrpLysLysMetGlnValProThrAsnLeuThrLeuArgAsnLeuGlnAlaLeuGlyThrLeuAlaGlyGlyMetSerCysGluPheLeuGlnGlnIleAsnSerMetValAspPheLeuGluValValHisMetIleTyrGlnLeuProThrArgValArgGlySerLeuArgAlaCysIleTrpAlaGluLeuGlnArgArgMetAlaMetProGluProGluTrpThrThrValGlyProGluLeuAsnGlyLeuAspSerLysLeuLeuLeuAspLeuProIleGlnLeuMetAspArgLeuSerAsnGluSerIleMetLeuValValGluLeuValGlnArgAlaProGluGlnLeuLeuAlaLeuThrProLeuHisGlnAlaAlaLeuAlaGluArgAlaLeuGlnAsnLeuAlaProLysGluThrProValSerGlyGluValLeuGluThrLeuGlyProLeuValGlyPheLeuGlyThrGluSerThrArgGlnIleProLeuGlnIleLeuLeuSerHisLeuSerGlnLeuGlnGlyPheCysLeuGlyGluThrPheAlaThrGluLeuGlyTrpLeuLeuLeuGlnGluSerValLeuGlyLysProGluLeuTrpSerGlnAspGluValGluGlnAlaGlyArgLeuValPheThrLeuSerThrGluAlaIleSerLeuIleProArgGluAlaLeuGlyProGluThrLeuGluArgLeuLeuGluLysGlnGlnSerTrpGluGlnSerArgValGlyGlnLeuCysArgGluProGlnLeuAlaAlaLysLysAlaAlaLeuValAlaGlyValValArgProAlaAlaGluAspLeuProGluProValProAsnCysAlaAspValArgGlyThrPheProAlaAlaTrpSerAlaThrGlnIleAlaGluMetGluLeuSerAspPheGluAspCysLeuThrLeuPheAlaGlyAspProGlyLeuGlyProGluGluLeuArgAlaAlaMetGlyLysAlaLysGlnLeuTrpGlyProProArgGlyPheArgProGluGlnIleLeuGlnLeuGlyArgLeuLeuIleGlyLeuGlyAspArgGluLeuGlnGluLeuIleLeuValAspTrpGlyValLeuSerThrLeuGlyGlnIleAspGlyTrpSerThrThrGlnLeuArgIleValValSerSerPheLeuArgGlnSerGlyArgHisValSerHisLeuAspPheValHisLeuThrAlaLeuGlyTyrThrLeuCysGlyLeuArgProGluGluLeuGlnHisIleSerSerTrpGluPheSerGlnAlaAlaLeuPheLeuGlyThrLeuHisLeuGlnCysSerGluGluGlnLeuGluValLeuAlaHisLeuLeuValLeuProGlyGlyPheGlyProIleSerAsnTrpGlyProGluIlePheThrGluIleGlyThrIleAlaAlaGlyIleProAspLeuAlaLeuSerAlaLeuLeuArgGlyGlnIleGlnGlyValThrProLeuAlaIleSerValIleProProProLysPheAlaValValPheSerProIleGlnLeuSerSerLeuThrSerAlaGlnAlaValAlaValThrProGluGlnMetAlaPheLeuSerProGluGlnArgArgAlaValAlaTrpAlaGlnHisGluGlyLysGluSerProGluGlnGlnGlyArgSerThrAlaTrpGlyLeuGlnAspTrpSerArgProSerTrpSerLeuValLeuThrIleSerPheLeuGlyHisLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088440" } ], "type": "nucleotide" }