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"XP_011538353.1:p.Arg1502_Val2306delinsValAlaThrValLysAlaTrpAspProAspAlaGlySerAsnGlyGlnValValPheSerLeuAlaSerGlyAsnIleAlaGlyAlaPheGluIleValThrThrAsnAspSerIleGlyGluValPheValAlaArgProLeuAspArgGluGluLeuAspHisTyrIleLeuGlnValValAlaSerAspArgGlyThrProProArgLysLysAspHisIleLeuGlnValThrIleLeuAspIleAsnAspAsnProProValIleGluSerProPheGlyTyrAsnValSerValAsnGluAsnValGlyGlyGlyThrAlaValValGlnValArgAlaThrAspArgAspIleGlyIleAsnSerValLeuSerTyrTyrIleThrGluGlyAsnLysAspMetAlaPheArgMetAspArgIleSerGlyGluIleAlaThrArgProAlaProProAspArgGluArgGlnSerPheTyrHisLeuValAlaThrValGluAspGluGlyThrProThrLeuSerAlaThrThrHisValTyrValThrIleValAspGluAsnAspAsnAlaProMetPheGlnGlnProHisTyrGluValLeuLeuAspGluGlyProAspThrLeuAsnThrSerLeuIleThrIleGlnAlaLeuAspLeuAspGluGlyProAsnGlyThrValThrTyrAlaIleValAlaGlyAsnIleValAsnThrPheArgIleAspArgHisMetGlyValIleThrAlaAlaLysGluLeuAspTyrGluIleSerHisGlyArgTyrThrLeuIleValThrAlaThrAspGlnCysProIleLeuSerHisArgLeuThrSerThrThrThrValLeuValAsnValAsnAspIleAsnAspAsnValProThrPheProArgAspTyrGluGlyProPheGluValThrGluGlyGlnProGlyProArgValTrpThrPheLeuAlaHisAspArgAspSerGlyProAsnGlyGlnValGluTyrSerIleMetAspGlyAspProLeuGlyGluPheValIleSerProValGluGlyValLeuArgValArgLysAspValGluLeuAspArgGluThrIleAlaPheTyrAsnLeuThrIleCysAlaArgAspArgGlyMetProProLeuSerSerThrMetLeuValGlyIleArgValLeuAspIleAsnAspAsnAspProValLeuLeuAsnLeuProMetAsnIleThrIleSerGluAsnSerProValSerSerPheValAlaHisValLeuAlaSerAspAlaAspSerGlyCysAsnAlaArgLeuThrPheAsnIleThrAlaGlyAsnArgGluArgAlaPhePheIleAsnAlaThrThrGlyIleValThrValAsnArgProLeuAspArgGluArgIleProGluTyrLysLeuThrIleSerValLysAspAsnProGluAsnProArgIleAlaArgArgAspTyrAspLeuLeuLeuIlePheLeuSerAspGluAsnAspAsnHisProLeuPheThrLysSerThrTyrGlnAlaGluValMetGluAsnSerProAlaGlyThrProLeuThrValLeuAsnGlyProIleLeuAlaLeuAspAlaAspGlnAspIleTyrAlaValValThrTyrGlnLeuLeuGlyAlaGlnSerGlyLeuPheAspIleAsnSerSerThrGlyValValThrValArgSerGlyValIleIleAspArgGluAlaPheSerProProIleLeuGluLeuLeuLeuLeuAlaGluAspIleGlyLeuLeuAsnSerThrAlaHisLeuLeuIleThrIleLeuAspAspAsnAspAsnArgProThrPheSerProAlaThrLeuThrValHisLeuLeuGluAsnCysProProGlyPheSerValLeuGlnValThrAlaThrAspGluAspSerGlyLeuAsnGlyGluLeuValTyrArgIleGluAlaGlyAlaGlnAspArgPheLeuIleHisLeuValThrGlyValIleArgValGlyAsnAlaThrIleAspArgGluGluGlnGluSerTyrArgLeuThrValValAlaThrAspArgGlyThrValProLeuSerGlyThrAlaIleValThrIleLeuIleAspAspIleAsnAspSerArgProGluPheLeuAsnProIleGlnThrValSerValLeuGluSerAlaGluProGlyThrValIleAlaAsnIleThrAlaIleAspHisAspLeuAsnProLysLeuGluTyrHisIleValGlyIleValAlaLysAspAspThrAspArgLeuValProAsnGlnGluAspAlaPheAlaValAsnIleAsnThrGlyProGlnValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS107001" }, { "coordinates": [ { "allele": "T", "end": 970, "referenceAllele": "C", "start": 969 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540052.1:c.832C>T" ], "proteinEffect": { "hgvs": "XP_011538354.1:p.Arg278Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS107002" }, { "coordinates": [ { "allele": "T", "end": 4747, "referenceAllele": "C", "start": 4746 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540053.1:c.4504C>T" ], "proteinEffect": { "hgvs": "XP_011538355.1:p.Arg1502Ter", "hgvsWellDefined": "XP_011538355.1:p.Arg1502_Leu2042delinsValAlaThrValLysAlaTrpAspProAspAlaGlySerAsnGlyGlnValValPheSerLeuAlaSerGlyAsnIleAlaGlyAlaPheGluIleValThrThrAsnAspSerIleGlyGluValPheValAlaArgProLeuAspArgGluGluLeuAspHisTyrIleLeuGlnValValAlaSerAspArgGlyThrProProArgLysLysAspHisIleLeuGlnValThrIleLeuAspIleAsnAspAsnProProValIleGluSerProPheGlyTyrAsnValSerValAsnGluAsnValGlyGlyGlyThrAlaValValGlnValArgAlaThrAspArgAspIleGlyIleAsnSerValLeuSerTyrTyrIleThrGluGlyAsnLysAspMetAlaPheArgMetAspArgIleSerGlyGluIleAlaThrArgProAlaProProAspArgGluArgGlnSerPheTyrHisLeuValAlaThrValGluAspGluGlyThrProThrLeuSerAlaThrThrHisValTyrValThrIleValAspGluAsnAspAsnAlaProMetPheGlnGlnProHisTyrGluValLeuLeuAspGluGlyProAspThrLeuAsnThrSerLeuIleThrIleGlnAlaLeuAspLeuAspGluGlyProAsnGlyThrValThrTyrAlaIleValAlaGlyAsnIleValAsnThrPheArgIleAspArgHisMetGlyValIleThrAlaAlaLysGluLeuAspTyrGluIleSerHisGlyArgTyrThrLeuIleValThrAlaThrAspGlnCysProIleLeuSerHisArgLeuThrSerThrThrThrValLeuValAsnValAsnAspIleAsnAspAsnValProThrPheProArgAspTyrGluGlyProPheGluValThrGluGlyGlnProGlyProArgValTrpThrPheLeuAlaHisAspArgAspSerGlyProAsnGlyGlnValGluTyrSerIleMetAspGlyAspProLeuGlyGluPheValIleSerProValGluGlyValLeuArgValArgLysAspValGluLeuAspArgGluThrIleAlaPheTyrAsnLeuThrIleCysAlaArgAspArgGlyMetProProLeuSerSerThrMetLeuValGlyIleArgValLeuAspIleAsnAspAsnAspProValLeuLeuAsnLeuProMetAsnIleThrIleSerGluAsnSerProValSerSerPheValAlaHisValLeuAlaSerAspAlaAspSerGlyCysAsnAlaArgLeuThrPheAsnIleThrAlaGlyAsnArgGluArgAlaPhePheIleAsnAlaThrThrGlyIleValThrValAsnArgProLeuAspArgGluArgIleProGluTyrLysLeuThrIleSerValLysAspAsnProGluAsnProArgIleAlaArgArgAspTyrAspLeuLeuLeuIlePheLeuSerAspGluAsnAspAsnHisProLeuPheThrLysSerThrTyrGlnAlaGluValMetGluAsnSerProAlaAlaGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS107003" }, { "coordinates": [ { "allele": "T", "end": 4747, "referenceAllele": "C", "start": 4746 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XR_945796.1:n.4747C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS139429" }, { "coordinates": [ { "allele": "T", "end": 4713, "referenceAllele": "C", "start": 4712 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_022124.6:c.4309C>T" ], "proteinEffect": { "hgvs": "NP_071407.4:p.Arg1437Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS698509", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000224721.12:c.4309C>T" }, "RefSeq": { "hgvs": "NM_022124.6:c.4309C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000224721.9:p.Arg1437Ter" }, "RefSeq": { "hgvs": "NP_071407.4:p.Arg1437Ter" } } } } ], "type": "nucleotide" }