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3159, "referenceAllele": "C", "start": 3158 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_017017792.2:c.2426C>A" ], "proteinEffect": { "hgvs": "XP_016873281.1:p.Ser809Ter", "hgvsWellDefined": "XP_016873281.1:p.Ser809_Ser1775delinsLysLeuMetAsnAspIleAlaAspIleCysLysSerLeuAlaSerPheIleLysLysProPheAspArgGlyGluValGluSerMetGluAspAspThrAsnGlyAsnLeuMetGluValGluAspGlnSerSerMetAsnLeuPheAsnAspTyrProAspSerSerValSerAspAlaAsnGluProGlyGluSerGlnSerThrIleGlyAlaIleAsnProLeuAlaGluGluTyrLeuSerLysGlnAspLeuLeuPheLeuAspMetLeuLysPheLeuCysLeuCysValThrThrAlaGlnThrAsnThrValSerPheArgAlaAlaAspIleArgArgLysLeuLeuMetLeuIleAspSerSerThrLeuGluProThrLysSerLeuHisLeuHisMetTyrLeuMetLeuLeuLysGluLeuProGlyGluGluTyrProLeuProMetGluAspValLeuGluLeuLeuLysProLeuSerAsnValCysSerLeuTyrArgArgAspGlnAspValCysLysThrIleLeuAsnHisValLeuHisValValLysAsnLeuGlyGlnSerAsnMetAspSerGluAsnThrArgAspAlaGlnGlyGlnPheLeuThrValIleGlyAlaPheTrpHisLeuThrLysGluArgLysTyrIlePheSerValArgMetAlaLeuValAsnCysLeuLysThrLeuLeuGluAlaAspProTyrSerLysTrpAlaIleLeuAsnValMetGlyLysAspPheProValAsnGluValPheThrGlnPheLeuAlaAspAsnHisHisGlnValArgMetLeuAlaAlaGluSerIleAsnArgLeuPheGlnAspThrLysGlyAspSerSerArgLeuLeuLysAlaLeuProLeuLysLeuGlnGlnThrAlaPheGluAsnAlaTyrLeuLysAlaGlnGluGlyMetArgGluMetSerHisSerAlaGluAsnProGluThrLeuAspGluIleTyrAsnArgLysSerValLeuLeuThrLeuIleAlaValValLeuSerCysSerProIleCysGluLysGlnAlaLeuPheAlaLeuCysLysSerValLysGluAsnGlyLeuGluProHisLeuValLysLysValLeuGluLysValSerGluThrPheGlyTyrArgArgLeuGluAspPheMetAlaSerHisLeuAspTyrLeuValLeuGluTrpLeuAsnLeuGlnAspThrGluTyrAsnLeuSerSerPheProPheIleLeuLeuAsnTyrThrAsnIleGluAspPheTyrArgSerCysTyrLysValLeuIleProHisLeuValIleArgSerHisPheAspGluValLysSerIleAlaAsnGlnIleGlnGluAspTrpLysSerLeuLeuThrAspCysPheProLysIleLeuValAsnIleLeuProTyrPheAlaTyrGluGlyThrArgAspSerGlyMetAlaGlnGlnArgGluThrAlaThrLysValTyrAspMetLeuLysSerGluAsnLeuLeuGlyLysGlnIleAspHisLeuPheIleSerAsnLeuProGluIleValValGluLeuLeuMetThrLeuHisGluProAlaAsnSerSerAlaSerGlnSerThrAspLeuCysAspPheSerGlyAspLeuAspProAlaProAsnProProHisPheProSerHisValIleLysAlaThrPheAlaTyrIleSerAsnCysHisLysThrLysLeuLysSerIleLeuGluIleLeuSerLysSerProAspSerTyrGlnLysIleLeuLeuAlaIleCysGluGlnAlaAlaGluThrAsnAsnValTyrLysLysHisArgIleLeuLysIleTyrHisLeuPheValSerLeuLeuLeuLysAspIleLysSerGlyLeuGlyGlyAlaTrpAlaPheValLeuArgAspValIleTyrThrLeuIleHisTyrIleAsnGlnArgProSerCysIleMetAspValSerLeuArgSerPheSerLeuCysCysAspLeuLeuSerGlnValCysGlnThrAlaValThrTyrCysLysAspAlaLeuGluAsnHisLeuHisValIleValGlyThrLeuIleProLeuValTyrGluGlnValGluValGlnLysGlnValLeuAspLeuLeuLysTyrLeuValIleAspAsnLysAspAsnGluAsnLeuTyrIleThrIleLysLeuLeuAspProPheProAspHisValValPheLysAspLeuArgIleThrGlnGlnLysIleLysTyrSerArgGlyProPheSerLeuLeuGluGluIleAsnHisPheLeuSerValSerValTyrAspAlaLeuProLeuThrArgLeuGluGlyLeuLysAspLeuArgArgGlnLeuGluLeuHisLysAspGlnMetValAspIleMetArgAlaSerGlnAspAsnProGlnAspGlyIleMetValLysLeuValValAsnLeuLeuGlnLeuSerLysMetAlaIleAsnHisThrGlyGluLysGluValLeuGluAlaValGlySerCysLeuGlyGluValGlyProIleAspPheSerThrIleAlaIleGlnHisSerLysAspAlaSerTyrThrLysAlaLeuLysLeuPheGluAspLysGluLeuGlnTrpThrPheIleMetLeuThrTyrLeuAsnAsnThrLeuValGluAspCysValLysValArgSerAlaAlaValThrCysLeuLysAsnIleLeuAlaThrLysThrGlyHisSerPheTrpGluIleTyrLysMetThrThrAspProMetLeuAlaTyrLeuGlnProPheArgThrSerArgLysLysValSerTer" 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