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}, "referenceSequence": "http://reg.genome.network/refseq/RS273693" }, { "coordinates": [ { "allele": "T", "end": 11521, "referenceAllele": "C", "start": 11520 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "ENST00000382298.7:c.10906C>T" ], "proteinEffect": { "hgvs": "ENSP00000371735.3:p.Arg3636Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS273698" }, { "coordinates": [ { "allele": "T", "end": 10990, "referenceAllele": "C", "start": 10989 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "ENST00000402364.1:c.8656C>T" ], "proteinEffect": { "hgvs": "ENSP00000385844.1:p.Arg2886Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS279490" }, { "coordinates": [ { "allele": "T", "end": 1057, "endIntronDirection": "-", "endIntronOffset": 3485, "referenceAllele": "C", "start": 1057, "startIntronDirection": "-", "startIntronOffset": 3486 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "ENST00000423156.1:c.1058-3486C>T" ], "proteinEffect": { "hgvs": "ENSP00000390925.1:n.1058-3486C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS287621" }, { "coordinates": [ { "allele": "T", "end": 2129, "endIntronDirection": "-", "endIntronOffset": 3485, "referenceAllele": "C", "start": 2129, "startIntronDirection": "-", "startIntronOffset": 3486 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "ENST00000455470.5:c.2130-3486C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS303060" }, { "@id": "http://reg.genome.network/allele/PA2826578345", "coordinates": [ { "allele": "T", "end": 10990, "referenceAllele": "C", "start": 10989 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "NM_001278055.1:c.10465C>T" ], "proteinEffect": { "hgvs": "NP_001264984.1:p.Arg3489Ter", "hgvsWellDefined": "NP_001264984.1:p.Arg3489_Val4432delinsMetAspLeuLeuSerGlyAsnPheLeuLysGluLeuSerLeuIleProPheLeuCysProGluArgAlaProAlaGluPheIleArgPheHisProGlnTyrGlnGluValAsnGlyThrLeuProLeuIleLysPheAsnGlyAlaGlnValAsnProLysPheLysGlnCysAspValLeuGlnLeuLeuTrpThrSerCysProIleLeuProGluLysAlaThrProLeuSerIleLysGluGlnGluGlySerAspLeuGlyProGlnGluGlnLeuGluGlnValLeuAsnMetLeuAsnValAsnLeuAspProProLeuAspLysValIleAsnAsnCysArgAsnIleCysAsnIleThrThrLeuAspGluGluMetValLysThrArgAlaLysValLeuArgSerIleTyrGluPheLeuSerAlaGluLysArgGluPheArgPheGlnLeuArgGlyValAlaPheValMetValGluAspGlyTrpLysLeuLeuLysProGluGluValValIleAsnLeuGluTyrGluSerAspPheLysProTyrLeuTyrLysLeuProLeuGluLeuGlyThrPheHisGlnLeuPheLysHisLeuGlyThrGluAspIleIleSerThrLysGlnTyrValGluValLeuSerArgIlePheLysAsnSerGluGlyLysGlnLeuAspProAsnGluMetArgThrValLysArgValValSerGlyLeuPheArgSerLeuGlnAsnAspSerValLysValArgSerAspLeuGluAsnValArgAspLeuAlaLeuTyrLeuProSerGlnAspGlyArgLeuValLysSerSerIleLeuValPheAspAspAlaProHisTyrLysSerArgIleGlnGlyAsnIleGlyValGlnMetLeuValAspLeuSerGlnCysTyrLeuGlyLysAspHisGlyPheHisThrLysLeuIleMetLeuPheProGlnLysLeuArgProArgLeuLeuSerSerIleLeuGluGluGlnLeuAspGluGluThrProLysValCysGlnPheGlyAlaLeuCysSerLeuGlnGlyArgLeuGlnLeuLeuLeuSerSerGluGlnPheIleThrGlyLeuIleArgIleMetLysHisGluAsnAspAsnAlaPheLeuAlaAsnGluGluLysAlaIleArgLeuCysLysAlaLeuArgGluGlyLeuLysValSerCysPheGluLysLeuGlnThrThrLeuArgValLysGlyPheAsnProIleProHisSerArgSerGluThrPheAlaPheLeuLysArgPheGlyAsnAlaValIleLeuLeuTyrIleGlnHisSerAspSerLysAspIleAsnPheLeuLeuAlaLeuAlaMetThrLeuLysSerAlaThrAspAsnLeuIleSerAspThrSerTyrLeuIleAlaMetLeuGlyCysAsnAspIleTyrArgIleGlyGluLysLeuAspSerLeuGlyValLysTyrAspSerSerGluProSerLysLeuGluLeuProMetProGlyThrProIleProAlaGluIleHisTyrThrLeuLeuMetAspProMetAsnValPheTyrProGlyGluTyrValGlyTyrLeuValAspAlaGluGlyGlyAspIleTyrGlySerTyrGlnProThrTyrThrTyrAlaIleIleValGlnGluValGluArgGluAspAlaAspAsnSerSerPheLeuGlyLysIleTyrGlnIleAspIleGlyTyrSerGluTyrLysIleValSerSerLeuAspLeuTyrLysPheSerArgProGluGluSerSerGlnSerArgAspSerAlaProSerThrProThrSerProThrGluPheLeuThrProGlyLeuArgSerIleProProLeuPheSerGlyArgGluSerHisLysThrSerSerLysHisGlnSerProLysLysLeuLysValAsnSerLeuProGluIleLeuLysGluValThrSerValValGluGlnAlaTrpLysLeuProGluSerGluArgLysLysIleIleArgArgLeuTyrLeuLysTrpHisProAspLysAsnProGluAsnHisAspIleAlaAsnGluValPheLysHisLeuGlnAsnGluIleAsnArgLeuGluLysGlnAlaPheLeuAspGlnAsnAlaAspArgAlaSerArgArgThrPheSerThrSerAlaSerArgPheGlnSerAspLysTyrSerPheGlnArgPheTyrThrSerTrpAsnGlnGluAlaThrSerHisLysSerGluArgGlnGlnGlnAsnLysGluLysCysProProSerAlaGlyGlnThrTyrSerGlnArgPhePheValProProThrPheLysSerValGlyAsnProValGluAlaArgArgTrpLeuArgGlnAlaArgAlaAsnPheSerAlaAlaArgAsnAspLeuHisLysAsnAlaAsnGluTrpValCysPheLysCysTyrLeuSerThrLysLeuAlaLeuIleAlaAlaAspTyrAlaValArgGlyLysSerAspLysAspValLysProThrAlaLeuAlaGlnLysIleGluGluTyrSerGlnGlnLeuGluGlyLeuThrAsnAspValHisThrLeuGluAlaTyrGlyValAspSerLeuLysThrArgTyrProAspLeuLeuProPheProGlnIleProAsnAspArgPheThrSerGluValAlaMetArgValMetGluCysThrAlaCysIleIleIleLysLeuGluAsnPheMetGlnGlnLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS021054" }, { "@id": "http://reg.genome.network/allele/PA276971", "coordinates": [ { "allele": "T", "end": 11521, "referenceAllele": "C", "start": 11520 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "NM_014363.5:c.10906C>T" ], "proteinEffect": { "hgvs": "NP_055178.3:p.Arg3636Ter", "hgvsWellDefined": "NP_055178.3:p.Arg3636_Val4579delinsMetAspLeuLeuSerGlyAsnPheLeuLysGluLeuSerLeuIleProPheLeuCysProGluArgAlaProAlaGluPheIleArgPheHisProGlnTyrGlnGluValAsnGlyThrLeuProLeuIleLysPheAsnGlyAlaGlnValAsnProLysPheLysGlnCysAspValLeuGlnLeuLeuTrpThrSerCysProIleLeuProGluLysAlaThrProLeuSerIleLysGluGlnGluGlySerAspLeuGlyProGlnGluGlnLeuGluGlnValLeuAsnMetLeuAsnValAsnLeuAspProProLeuAspLysValIleAsnAsnCysArgAsnIleCysAsnIleThrThrLeuAspGluGluMetValLysThrArgAlaLysValLeuArgSerIleTyrGluPheLeuSerAlaGluLysArgGluPheArgPheGlnLeuArgGlyValAlaPheValMetValGluAspGlyTrpLysLeuLeuLysProGluGluValValIleAsnLeuGluTyrGluSerAspPheLysProTyrLeuTyrLysLeuProLeuGluLeuGlyThrPheHisGlnLeuPheLysHisLeuGlyThrGluAspIleIleSerThrLysGlnTyrValGluValLeuSerArgIlePheLysAsnSerGluGlyLysGlnLeuAspProAsnGluMetArgThrValLysArgValValSerGlyLeuPheArgSerLeuGlnAsnAspSerValLysValArgSerAspLeuGluAsnValArgAspLeuAlaLeuTyrLeuProSerGlnAspGlyArgLeuValLysSerSerIleLeuValPheAspAspAlaProHisTyrLysSerArgIleGlnGlyAsnIleGlyValGlnMetLeuValAspLeuSerGlnCysTyrLeuGlyLysAspHisGlyPheHisThrLysLeuIleMetLeuPheProGlnLysLeuArgProArgLeuLeuSerSerIleLeuGluGluGlnLeuAspGluGluThrProLysValCysGlnPheGlyAlaLeuCysSerLeuGlnGlyArgLeuGlnLeuLeuLeuSerSerGluGlnPheIleThrGlyLeuIleArgIleMetLysHisGluAsnAspAsnAlaPheLeuAlaAsnGluGluLysAlaIleArgLeuCysLysAlaLeuArgGluGlyLeuLysValSerCysPheGluLysLeuGlnThrThrLeuArgValLysGlyPheAsnProIleProHisSerArgSerGluThrPheAlaPheLeuLysArgPheGlyAsnAlaValIleLeuLeuTyrIleGlnHisSerAspSerLysAspIleAsnPheLeuLeuAlaLeuAlaMetThrLeuLysSerAlaThrAspAsnLeuIleSerAspThrSerTyrLeuIleAlaMetLeuGlyCysAsnAspIleTyrArgIleGlyGluLysLeuAspSerLeuGlyValLysTyrAspSerSerGluProSerLysLeuGluLeuProMetProGlyThrProIleProAlaGluIleHisTyrThrLeuLeuMetAspProMetAsnValPheTyrProGlyGluTyrValGlyTyrLeuValAspAlaGluGlyGlyAspIleTyrGlySerTyrGlnProThrTyrThrTyrAlaIleIleValGlnGluValGluArgGluAspAlaAspAsnSerSerPheLeuGlyLysIleTyrGlnIleAspIleGlyTyrSerGluTyrLysIleValSerSerLeuAspLeuTyrLysPheSerArgProGluGluSerSerGlnSerArgAspSerAlaProSerThrProThrSerProThrGluPheLeuThrProGlyLeuArgSerIleProProLeuPheSerGlyArgGluSerHisLysThrSerSerLysHisGlnSerProLysLysLeuLysValAsnSerLeuProGluIleLeuLysGluValThrSerValValGluGlnAlaTrpLysLeuProGluSerGluArgLysLysIleIleArgArgLeuTyrLeuLysTrpHisProAspLysAsnProGluAsnHisAspIleAlaAsnGluValPheLysHisLeuGlnAsnGluIleAsnArgLeuGluLysGlnAlaPheLeuAspGlnAsnAlaAspArgAlaSerArgArgThrPheSerThrSerAlaSerArgPheGlnSerAspLysTyrSerPheGlnArgPheTyrThrSerTrpAsnGlnGluAlaThrSerHisLysSerGluArgGlnGlnGlnAsnLysGluLysCysProProSerAlaGlyGlnThrTyrSerGlnArgPhePheValProProThrPheLysSerValGlyAsnProValGluAlaArgArgTrpLeuArgGlnAlaArgAlaAsnPheSerAlaAlaArgAsnAspLeuHisLysAsnAlaAsnGluTrpValCysPheLysCysTyrLeuSerThrLysLeuAlaLeuIleAlaAlaAspTyrAlaValArgGlyLysSerAspLysAspValLysProThrAlaLeuAlaGlnLysIleGluGluTyrSerGlnGlnLeuGluGlyLeuThrAsnAspValHisThrLeuGluAlaTyrGlyValAspSerLeuLysThrArgTyrProAspLeuLeuProPheProGlnIleProAsnAspArgPheThrSerGluValAlaMetArgValMetGluCysThrAlaCysIleIleIleLysLeuGluAsnPheMetGlnGlnLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033115" }, { "coordinates": [ { "allele": "T", "end": 11548, "referenceAllele": "C", "start": 11547 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "XM_005266338.1:c.10933C>T" ], "proteinEffect": { "hgvs": "XP_005266395.1:p.Arg3645Ter", "hgvsWellDefined": "XP_005266395.1:p.Arg3645_Val4588delinsMetAspLeuLeuSerGlyAsnPheLeuLysGluLeuSerLeuIleProPheLeuCysProGluArgAlaProAlaGluPheIleArgPheHisProGlnTyrGlnGluValAsnGlyThrLeuProLeuIleLysPheAsnGlyAlaGlnValAsnProLysPheLysGlnCysAspValLeuGlnLeuLeuTrpThrSerCysProIleLeuProGluLysAlaThrProLeuSerIleLysGluGlnGluGlySerAspLeuGlyProGlnGluGlnLeuGluGlnValLeuAsnMetLeuAsnValAsnLeuAspProProLeuAspLysValIleAsnAsnCysArgAsnIleCysAsnIleThrThrLeuAspGluGluMetValLysThrArgAlaLysValLeuArgSerIleTyrGluPheLeuSerAlaGluLysArgGluPheArgPheGlnLeuArgGlyValAlaPheValMetValGluAspGlyTrpLysLeuLeuLysProGluGluValValIleAsnLeuGluTyrGluSerAspPheLysProTyrLeuTyrLysLeuProLeuGluLeuGlyThrPheHisGlnLeuPheLysHisLeuGlyThrGluAspIleIleSerThrLysGlnTyrValGluValLeuSerArgIlePheLysAsnSerGluGlyLysGlnLeuAspProAsnGluMetArgThrValLysArgValValSerGlyLeuPheArgSerLeuGlnAsnAspSerValLysValArgSerAspLeuGluAsnValArgAspLeuAlaLeuTyrLeuProSerGlnAspGlyArgLeuValLysSerSerIleLeuValPheAspAspAlaProHisTyrLysSerArgIleGlnGlyAsnIleGlyValGlnMetLeuValAspLeuSerGlnCysTyrLeuGlyLysAspHisGlyPheHisThrLysLeuIleMetLeuPheProGlnLysLeuArgProArgLeuLeuSerSerIleLeuGluGluGlnLeuAspGluGluThrProLysValCysGlnPheGlyAlaLeuCysSerLeuGlnGlyArgLeuGlnLeuLeuLeuSerSerGluGlnPheIleThrGlyLeuIleArgIleMetLysHisGluAsnAspAsnAlaPheLeuAlaAsnGluGluLysAlaIleArgLeuCysLysAlaLeuArgGluGlyLeuLysValSerCysPheGluLysLeuGlnThrThrLeuArgValLysGlyPheAsnProIleProHisSerArgSerGluThrPheAlaPheLeuLysArgPheGlyAsnAlaValIleLeuLeuTyrIleGlnHisSerAspSerLysAspIleAsnPheLeuLeuAlaLeuAlaMetThrLeuLysSerAlaThrAspAsnLeuIleSerAspThrSerTyrLeuIleAlaMetLeuGlyCysAsnAspIleTyrArgIleGlyGluLysLeuAspSerLeuGlyValLysTyrAspSerSerGluProSerLysLeuGluLeuProMetProGlyThrProIleProAlaGluIleHisTyrThrLeuLeuMetAspProMetAsnValPheTyrProGlyGluTyrValGlyTyrLeuValAspAlaGluGlyGlyAspIleTyrGlySerTyrGlnProThrTyrThrTyrAlaIleIleValGlnGluValGluArgGluAspAlaAspAsnSerSerPheLeuGlyLysIleTyrGlnIleAspIleGlyTyrSerGluTyrLysIleValSerSerLeuAspLeuTyrLysPheSerArgProGluGluSerSerGlnSerArgAspSerAlaProSerThrProThrSerProThrGluPheLeuThrProGlyLeuArgSerIleProProLeuPheSerGlyArgGluSerHisLysThrSerSerLysHisGlnSerProLysLysLeuLysValAsnSerLeuProGluIleLeuLysGluValThrSerValValGluGlnAlaTrpLysLeuProGluSerGluArgLysLysIleIleArgArgLeuTyrLeuLysTrpHisProAspLysAsnProGluAsnHisAspIleAlaAsnGluValPheLysHisLeuGlnAsnGluIleAsnArgLeuGluLysGlnAlaPheLeuAspGlnAsnAlaAspArgAlaSerArgArgThrPheSerThrSerAlaSerArgPheGlnSerAspLysTyrSerPheGlnArgPheTyrThrSerTrpAsnGlnGluAlaThrSerHisLysSerGluArgGlnGlnGlnAsnLysGluLysCysProProSerAlaGlyGlnThrTyrSerGlnArgPhePheValProProThrPheLysSerValGlyAsnProValGluAlaArgArgTrpLeuArgGlnAlaArgAlaAsnPheSerAlaAlaArgAsnAspLeuHisLysAsnAlaAsnGluTrpValCysPheLysCysTyrLeuSerThrLysLeuAlaLeuIleAlaAlaAspTyrAlaValArgGlyLysSerAspLysAspValLysProThrAlaLeuAlaGlnLysIleGluGluTyrSerGlnGlnLeuGluGlyLeuThrAsnAspValHisThrLeuGluAlaTyrGlyValAspSerLeuLysThrArgTyrProAspLeuLeuProPheProGlnIleProAsnAspArgPheThrSerGluValAlaMetArgValMetGluCysThrAlaCysIleIleIleLysLeuGluAsnPheMetGlnGlnLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065016" }, { "coordinates": [ { "allele": "T", "end": 10975, "referenceAllele": "C", "start": 10974 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "XM_011535038.1:c.10957C>T" ], "proteinEffect": { "hgvs": "XP_011533340.1:p.Arg3653Ter", "hgvsWellDefined": "XP_011533340.1:p.Arg3653_Val4596delinsMetAspLeuLeuSerGlyAsnPheLeuLysGluLeuSerLeuIleProPheLeuCysProGluArgAlaProAlaGluPheIleArgPheHisProGlnTyrGlnGluValAsnGlyThrLeuProLeuIleLysPheAsnGlyAlaGlnValAsnProLysPheLysGlnCysAspValLeuGlnLeuLeuTrpThrSerCysProIleLeuProGluLysAlaThrProLeuSerIleLysGluGlnGluGlySerAspLeuGlyProGlnGluGlnLeuGluGlnValLeuAsnMetLeuAsnValAsnLeuAspProProLeuAspLysValIleAsnAsnCysArgAsnIleCysAsnIleThrThrLeuAspGluGluMetValLysThrArgAlaLysValLeuArgSerIleTyrGluPheLeuSerAlaGluLysArgGluPheArgPheGlnLeuArgGlyValAlaPheValMetValGluAspGlyTrpLysLeuLeuLysProGluGluValValIleAsnLeuGluTyrGluSerAspPheLysProTyrLeuTyrLysLeuProLeuGluLeuGlyThrPheHisGlnLeuPheLysHisLeuGlyThrGluAspIleIleSerThrLysGlnTyrValGluValLeuSerArgIlePheLysAsnSerGluGlyLysGlnLeuAspProAsnGluMetArgThrValLysArgValValSerGlyLeuPheArgSerLeuGlnAsnAspSerValLysValArgSerAspLeuGluAsnValArgAspLeuAlaLeuTyrLeuProSerGlnAspGlyArgLeuValLysSerSerIleLeuValPheAspAspAlaProHisTyrLysSerArgIleGlnGlyAsnIleGlyValGlnMetLeuValAspLeuSerGlnCysTyrLeuGlyLysAspHisGlyPheHisThrLysLeuIleMetLeuPheProGlnLysLeuArgProArgLeuLeuSerSerIleLeuGluGluGlnLeuAspGluGluThrProLysValCysGlnPheGlyAlaLeuCysSerLeuGlnGlyArgLeuGlnLeuLeuLeuSerSerGluGlnPheIleThrGlyLeuIleArgIleMetLysHisGluAsnAspAsnAlaPheLeuAlaAsnGluGluLysAlaIleArgLeuCysLysAlaLeuArgGluGlyLeuLysValSerCysPheGluLysLeuGlnThrThrLeuArgValLysGlyPheAsnProIleProHisSerArgSerGluThrPheAlaPheLeuLysArgPheGlyAsnAlaValIleLeuLeuTyrIleGlnHisSerAspSerLysAspIleAsnPheLeuLeuAlaLeuAlaMetThrLeuLysSerAlaThrAspAsnLeuIleSerAspThrSerTyrLeuIleAlaMetLeuGlyCysAsnAspIleTyrArgIleGlyGluLysLeuAspSerLeuGlyValLysTyrAspSerSerGluProSerLysLeuGluLeuProMetProGlyThrProIleProAlaGluIleHisTyrThrLeuLeuMetAspProMetAsnValPheTyrProGlyGluTyrValGlyTyrLeuValAspAlaGluGlyGlyAspIleTyrGlySerTyrGlnProThrTyrThrTyrAlaIleIleValGlnGluValGluArgGluAspAlaAspAsnSerSerPheLeuGlyLysIleTyrGlnIleAspIleGlyTyrSerGluTyrLysIleValSerSerLeuAspLeuTyrLysPheSerArgProGluGluSerSerGlnSerArgAspSerAlaProSerThrProThrSerProThrGluPheLeuThrProGlyLeuArgSerIleProProLeuPheSerGlyArgGluSerHisLysThrSerSerLysHisGlnSerProLysLysLeuLysValAsnSerLeuProGluIleLeuLysGluValThrSerValValGluGlnAlaTrpLysLeuProGluSerGluArgLysLysIleIleArgArgLeuTyrLeuLysTrpHisProAspLysAsnProGluAsnHisAspIleAlaAsnGluValPheLysHisLeuGlnAsnGluIleAsnArgLeuGluLysGlnAlaPheLeuAspGlnAsnAlaAspArgAlaSerArgArgThrPheSerThrSerAlaSerArgPheGlnSerAspLysTyrSerPheGlnArgPheTyrThrSerTrpAsnGlnGluAlaThrSerHisLysSerGluArgGlnGlnGlnAsnLysGluLysCysProProSerAlaGlyGlnThrTyrSerGlnArgPhePheValProProThrPheLysSerValGlyAsnProValGluAlaArgArgTrpLeuArgGlnAlaArgAlaAsnPheSerAlaAlaArgAsnAspLeuHisLysAsnAlaAsnGluTrpValCysPheLysCysTyrLeuSerThrLysLeuAlaLeuIleAlaAlaAspTyrAlaValArgGlyLysSerAspLysAspValLysProThrAlaLeuAlaGlnLysIleGluGluTyrSerGlnGlnLeuGluGlyLeuThrAsnAspValHisThrLeuGluAlaTyrGlyValAspSerLeuLysThrArgTyrProAspLeuLeuProPheProGlnIleProAsnAspArgPheThrSerGluValAlaMetArgValMetGluCysThrAlaCysIleIleIleLysLeuGluAsnPheMetGlnGlnLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102048" }, { "coordinates": [ { "allele": "T", "end": 11045, "referenceAllele": "C", "start": 11044 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "XM_011535039.1:c.10924C>T" ], "proteinEffect": { "hgvs": "XP_011533341.1:p.Arg3642Ter", "hgvsWellDefined": "XP_011533341.1:p.Arg3642_Val4585delinsMetAspLeuLeuSerGlyAsnPheLeuLysGluLeuSerLeuIleProPheLeuCysProGluArgAlaProAlaGluPheIleArgPheHisProGlnTyrGlnGluValAsnGlyThrLeuProLeuIleLysPheAsnGlyAlaGlnValAsnProLysPheLysGlnCysAspValLeuGlnLeuLeuTrpThrSerCysProIleLeuProGluLysAlaThrProLeuSerIleLysGluGlnGluGlySerAspLeuGlyProGlnGluGlnLeuGluGlnValLeuAsnMetLeuAsnValAsnLeuAspProProLeuAspLysValIleAsnAsnCysArgAsnIleCysAsnIleThrThrLeuAspGluGluMetValLysThrArgAlaLysValLeuArgSerIleTyrGluPheLeuSerAlaGluLysArgGluPheArgPheGlnLeuArgGlyValAlaPheValMetValGluAspGlyTrpLysLeuLeuLysProGluGluValValIleAsnLeuGluTyrGluSerAspPheLysProTyrLeuTyrLysLeuProLeuGluLeuGlyThrPheHisGlnLeuPheLysHisLeuGlyThrGluAspIleIleSerThrLysGlnTyrValGluValLeuSerArgIlePheLysAsnSerGluGlyLysGlnLeuAspProAsnGluMetArgThrValLysArgValValSerGlyLeuPheArgSerLeuGlnAsnAspSerValLysValArgSerAspLeuGluAsnValArgAspLeuAlaLeuTyrLeuProSerGlnAspGlyArgLeuValLysSerSerIleLeuValPheAspAspAlaProHisTyrLysSerArgIleGlnGlyAsnIleGlyValGlnMetLeuValAspLeuSerGlnCysTyrLeuGlyLysAspHisGlyPheHisThrLysLeuIleMetLeuPheProGlnLysLeuArgProArgLeuLeuSerSerIleLeuGluGluGlnLeuAspGluGluThrProLysValCysGlnPheGlyAlaLeuCysSerLeuGlnGlyArgLeuGlnLeuLeuLeuSerSerGluGlnPheIleThrGlyLeuIleArgIleMetLysHisGluAsnAspAsnAlaPheLeuAlaAsnGluGluLysAlaIleArgLeuCysLysAlaLeuArgGluGlyLeuLysValSerCysPheGluLysLeuGlnThrThrLeuArgValLysGlyPheAsnProIleProHisSerArgSerGluThrPheAlaPheLeuLysArgPheGlyAsnAlaValIleLeuLeuTyrIleGlnHisSerAspSerLysAspIleAsnPheLeuLeuAlaLeuAlaMetThrLeuLysSerAlaThrAspAsnLeuIleSerAspThrSerTyrLeuIleAlaMetLeuGlyCysAsnAspIleTyrArgIleGlyGluLysLeuAspSerLeuGlyValLysTyrAspSerSerGluProSerLysLeuGluLeuProMetProGlyThrProIleProAlaGluIleHisTyrThrLeuLeuMetAspProMetAsnValPheTyrProGlyGluTyrValGlyTyrLeuValAspAlaGluGlyGlyAspIleTyrGlySerTyrGlnProThrTyrThrTyrAlaIleIleValGlnGluValGluArgGluAspAlaAspAsnSerSerPheLeuGlyLysIleTyrGlnIleAspIleGlyTyrSerGluTyrLysIleValSerSerLeuAspLeuTyrLysPheSerArgProGluGluSerSerGlnSerArgAspSerAlaProSerThrProThrSerProThrGluPheLeuThrProGlyLeuArgSerIleProProLeuPheSerGlyArgGluSerHisLysThrSerSerLysHisGlnSerProLysLysLeuLysValAsnSerLeuProGluIleLeuLysGluValThrSerValValGluGlnAlaTrpLysLeuProGluSerGluArgLysLysIleIleArgArgLeuTyrLeuLysTrpHisProAspLysAsnProGluAsnHisAspIleAlaAsnGluValPheLysHisLeuGlnAsnGluIleAsnArgLeuGluLysGlnAlaPheLeuAspGlnAsnAlaAspArgAlaSerArgArgThrPheSerThrSerAlaSerArgPheGlnSerAspLysTyrSerPheGlnArgPheTyrThrSerTrpAsnGlnGluAlaThrSerHisLysSerGluArgGlnGlnGlnAsnLysGluLysCysProProSerAlaGlyGlnThrTyrSerGlnArgPhePheValProProThrPheLysSerValGlyAsnProValGluAlaArgArgTrpLeuArgGlnAlaArgAlaAsnPheSerAlaAlaArgAsnAspLeuHisLysAsnAlaAsnGluTrpValCysPheLysCysTyrLeuSerThrLysLeuAlaLeuIleAlaAlaAspTyrAlaValArgGlyLysSerAspLysAspValLysProThrAlaLeuAlaGlnLysIleGluGluTyrSerGlnGlnLeuGluGlyLeuThrAsnAspValHisThrLeuGluAlaTyrGlyValAspSerLeuLysThrArgTyrProAspLeuLeuProPheProGlnIleProAsnAspArgPheThrSerGluValAlaMetArgValMetGluCysThrAlaCysIleIleIleLysLeuGluAsnPheMetGlnGlnLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102049" }, { "coordinates": [ { "allele": "T", "end": 11548, "referenceAllele": "C", "start": 11547 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "XM_005266338.2:c.10933C>T" ], "proteinEffect": { "hgvs": "XP_005266395.1:p.Arg3645Ter", "hgvsWellDefined": "XP_005266395.1:p.Arg3645_Val4588delinsMetAspLeuLeuSerGlyAsnPheLeuLysGluLeuSerLeuIleProPheLeuCysProGluArgAlaProAlaGluPheIleArgPheHisProGlnTyrGlnGluValAsnGlyThrLeuProLeuIleLysPheAsnGlyAlaGlnValAsnProLysPheLysGlnCysAspValLeuGlnLeuLeuTrpThrSerCysProIleLeuProGluLysAlaThrProLeuSerIleLysGluGlnGluGlySerAspLeuGlyProGlnGluGlnLeuGluGlnValLeuAsnMetLeuAsnValAsnLeuAspProProLeuAspLysValIleAsnAsnCysArgAsnIleCysAsnIleThrThrLeuAspGluGluMetValLysThrArgAlaLysValLeuArgSerIleTyrGluPheLeuSerAlaGluLysArgGluPheArgPheGlnLeuArgGlyValAlaPheValMetValGluAspGlyTrpLysLeuLeuLysProGluGluValValIleAsnLeuGluTyrGluSerAspPheLysProTyrLeuTyrLysLeuProLeuGluLeuGlyThrPheHisGlnLeuPheLysHisLeuGlyThrGluAspIleIleSerThrLysGlnTyrValGluValLeuSerArgIlePheLysAsnSerGluGlyLysGlnLeuAspProAsnGluMetArgThrValLysArgValValSerGlyLeuPheArgSerLeuGlnAsnAspSerValLysValArgSerAspLeuGluAsnValArgAspLeuAlaLeuTyrLeuProSerGlnAspGlyArgLeuValLysSerSerIleLeuValPheAspAspAlaProHisTyrLysSerArgIleGlnGlyAsnIleGlyValGlnMetLeuValAspLeuSerGlnCysTyrLeuGlyLysAspHisGlyPheHisThrLysLeuIleMetLeuPheProGlnLysLeuArgProArgLeuLeuSerSerIleLeuGluGluGlnLeuAspGluGluThrProLysValCysGlnPheGlyAlaLeuCysSerLeuGlnGlyArgLeuGlnLeuLeuLeuSerSerGluGlnPheIleThrGlyLeuIleArgIleMetLysHisGluAsnAspAsnAlaPheLeuAlaAsnGluGluLysAlaIleArgLeuCysLysAlaLeuArgGluGlyLeuLysValSerCysPheGluLysLeuGlnThrThrLeuArgValLysGlyPheAsnProIleProHisSerArgSerGluThrPheAlaPheLeuLysArgPheGlyAsnAlaValIleLeuLeuTyrIleGlnHisSerAspSerLysAspIleAsnPheLeuLeuAlaLeuAlaMetThrLeuLysSerAlaThrAspAsnLeuIleSerAspThrSerTyrLeuIleAlaMetLeuGlyCysAsnAspIleTyrArgIleGlyGluLysLeuAspSerLeuGlyValLysTyrAspSerSerGluProSerLysLeuGluLeuProMetProGlyThrProIleProAlaGluIleHisTyrThrLeuLeuMetAspProMetAsnValPheTyrProGlyGluTyrValGlyTyrLeuValAspAlaGluGlyGlyAspIleTyrGlySerTyrGlnProThrTyrThrTyrAlaIleIleValGlnGluValGluArgGluAspAlaAspAsnSerSerPheLeuGlyLysIleTyrGlnIleAspIleGlyTyrSerGluTyrLysIleValSerSerLeuAspLeuTyrLysPheSerArgProGluGluSerSerGlnSerArgAspSerAlaProSerThrProThrSerProThrGluPheLeuThrProGlyLeuArgSerIleProProLeuPheSerGlyArgGluSerHisLysThrSerSerLysHisGlnSerProLysLysLeuLysValAsnSerLeuProGluIleLeuLysGluValThrSerValValGluGlnAlaTrpLysLeuProGluSerGluArgLysLysIleIleArgArgLeuTyrLeuLysTrpHisProAspLysAsnProGluAsnHisAspIleAlaAsnGluValPheLysHisLeuGlnAsnGluIleAsnArgLeuGluLysGlnAlaPheLeuAspGlnAsnAlaAspArgAlaSerArgArgThrPheSerThrSerAlaSerArgPheGlnSerAspLysTyrSerPheGlnArgPheTyrThrSerTrpAsnGlnGluAlaThrSerHisLysSerGluArgGlnGlnGlnAsnLysGluLysCysProProSerAlaGlyGlnThrTyrSerGlnArgPhePheValProProThrPheLysSerValGlyAsnProValGluAlaArgArgTrpLeuArgGlnAlaArgAlaAsnPheSerAlaAlaArgAsnAspLeuHisLysAsnAlaAsnGluTrpValCysPheLysCysTyrLeuSerThrLysLeuAlaLeuIleAlaAlaAspTyrAlaValArgGlyLysSerAspLysAspValLysProThrAlaLeuAlaGlnLysIleGluGluTyrSerGlnGlnLeuGluGlyLeuThrAsnAspValHisThrLeuGluAlaTyrGlyValAspSerLeuLysThrArgTyrProAspLeuLeuProPheProGlnIleProAsnAspArgPheThrSerGluValAlaMetArgValMetGluCysThrAlaCysIleIleIleLysLeuGluAsnPheMetGlnGlnLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536218" }, { "coordinates": [ { "allele": "T", "end": 11156, "referenceAllele": "C", "start": 11155 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "XM_011535039.2:c.10924C>T" ], "proteinEffect": { "hgvs": "XP_011533341.1:p.Arg3642Ter", "hgvsWellDefined": "XP_011533341.1:p.Arg3642_Val4585delinsMetAspLeuLeuSerGlyAsnPheLeuLysGluLeuSerLeuIleProPheLeuCysProGluArgAlaProAlaGluPheIleArgPheHisProGlnTyrGlnGluValAsnGlyThrLeuProLeuIleLysPheAsnGlyAlaGlnValAsnProLysPheLysGlnCysAspValLeuGlnLeuLeuTrpThrSerCysProIleLeuProGluLysAlaThrProLeuSerIleLysGluGlnGluGlySerAspLeuGlyProGlnGluGlnLeuGluGlnValLeuAsnMetLeuAsnValAsnLeuAspProProLeuAspLysValIleAsnAsnCysArgAsnIleCysAsnIleThrThrLeuAspGluGluMetValLysThrArgAlaLysValLeuArgSerIleTyrGluPheLeuSerAlaGluLysArgGluPheArgPheGlnLeuArgGlyValAlaPheValMetValGluAspGlyTrpLysLeuLeuLysProGluGluValValIleAsnLeuGluTyrGluSerAspPheLysProTyrLeuTyrLysLeuProLeuGluLeuGlyThrPheHisGlnLeuPheLysHisLeuGlyThrGluAspIleIleSerThrLysGlnTyrValGluValLeuSerArgIlePheLysAsnSerGluGlyLysGlnLeuAspProAsnGluMetArgThrValLysArgValValSerGlyLeuPheArgSerLeuGlnAsnAspSerValLysValArgSerAspLeuGluAsnValArgAspLeuAlaLeuTyrLeuProSerGlnAspGlyArgLeuValLysSerSerIleLeuValPheAspAspAlaProHisTyrLysSerArgIleGlnGlyAsnIleGlyValGlnMetLeuValAspLeuSerGlnCysTyrLeuGlyLysAspHisGlyPheHisThrLysLeuIleMetLeuPheProGlnLysLeuArgProArgLeuLeuSerSerIleLeuGluGluGlnLeuAspGluGluThrProLysValCysGlnPheGlyAlaLeuCysSerLeuGlnGlyArgLeuGlnLeuLeuLeuSerSerGluGlnPheIleThrGlyLeuIleArgIleMetLysHisGluAsnAspAsnAlaPheLeuAlaAsnGluGluLysAlaIleArgLeuCysLysAlaLeuArgGluGlyLeuLysValSerCysPheGluLysLeuGlnThrThrLeuArgValLysGlyPheAsnProIleProHisSerArgSerGluThrPheAlaPheLeuLysArgPheGlyAsnAlaValIleLeuLeuTyrIleGlnHisSerAspSerLysAspIleAsnPheLeuLeuAlaLeuAlaMetThrLeuLysSerAlaThrAspAsnLeuIleSerAspThrSerTyrLeuIleAlaMetLeuGlyCysAsnAspIleTyrArgIleGlyGluLysLeuAspSerLeuGlyValLysTyrAspSerSerGluProSerLysLeuGluLeuProMetProGlyThrProIleProAlaGluIleHisTyrThrLeuLeuMetAspProMetAsnValPheTyrProGlyGluTyrValGlyTyrLeuValAspAlaGluGlyGlyAspIleTyrGlySerTyrGlnProThrTyrThrTyrAlaIleIleValGlnGluValGluArgGluAspAlaAspAsnSerSerPheLeuGlyLysIleTyrGlnIleAspIleGlyTyrSerGluTyrLysIleValSerSerLeuAspLeuTyrLysPheSerArgProGluGluSerSerGlnSerArgAspSerAlaProSerThrProThrSerProThrGluPheLeuThrProGlyLeuArgSerIleProProLeuPheSerGlyArgGluSerHisLysThrSerSerLysHisGlnSerProLysLysLeuLysValAsnSerLeuProGluIleLeuLysGluValThrSerValValGluGlnAlaTrpLysLeuProGluSerGluArgLysLysIleIleArgArgLeuTyrLeuLysTrpHisProAspLysAsnProGluAsnHisAspIleAlaAsnGluValPheLysHisLeuGlnAsnGluIleAsnArgLeuGluLysGlnAlaPheLeuAspGlnAsnAlaAspArgAlaSerArgArgThrPheSerThrSerAlaSerArgPheGlnSerAspLysTyrSerPheGlnArgPheTyrThrSerTrpAsnGlnGluAlaThrSerHisLysSerGluArgGlnGlnGlnAsnLysGluLysCysProProSerAlaGlyGlnThrTyrSerGlnArgPhePheValProProThrPheLysSerValGlyAsnProValGluAlaArgArgTrpLeuArgGlnAlaArgAlaAsnPheSerAlaAlaArgAsnAspLeuHisLysAsnAlaAsnGluTrpValCysPheLysCysTyrLeuSerThrLysLeuAlaLeuIleAlaAlaAspTyrAlaValArgGlyLysSerAspLysAspValLysProThrAlaLeuAlaGlnLysIleGluGluTyrSerGlnGlnLeuGluGlyLeuThrAsnAspValHisThrLeuGluAlaTyrGlyValAspSerLeuLysThrArgTyrProAspLeuLeuProPheProGlnIleProAsnAspArgPheThrSerGluValAlaMetArgValMetGluCysThrAlaCysIleIleIleLysLeuGluAsnPheMetGlnGlnLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS551886" }, { "coordinates": [ { "allele": "T", "end": 11129, "referenceAllele": "C", "start": 11128 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "XM_017020539.1:c.10897C>T" ], "proteinEffect": { "hgvs": "XP_016876028.1:p.Arg3633Ter", "hgvsWellDefined": "XP_016876028.1:p.Arg3633_Val4576delinsMetAspLeuLeuSerGlyAsnPheLeuLysGluLeuSerLeuIleProPheLeuCysProGluArgAlaProAlaGluPheIleArgPheHisProGlnTyrGlnGluValAsnGlyThrLeuProLeuIleLysPheAsnGlyAlaGlnValAsnProLysPheLysGlnCysAspValLeuGlnLeuLeuTrpThrSerCysProIleLeuProGluLysAlaThrProLeuSerIleLysGluGlnGluGlySerAspLeuGlyProGlnGluGlnLeuGluGlnValLeuAsnMetLeuAsnValAsnLeuAspProProLeuAspLysValIleAsnAsnCysArgAsnIleCysAsnIleThrThrLeuAspGluGluMetValLysThrArgAlaLysValLeuArgSerIleTyrGluPheLeuSerAlaGluLysArgGluPheArgPheGlnLeuArgGlyValAlaPheValMetValGluAspGlyTrpLysLeuLeuLysProGluGluValValIleAsnLeuGluTyrGluSerAspPheLysProTyrLeuTyrLysLeuProLeuGluLeuGlyThrPheHisGlnLeuPheLysHisLeuGlyThrGluAspIleIleSerThrLysGlnTyrValGluValLeuSerArgIlePheLysAsnSerGluGlyLysGlnLeuAspProAsnGluMetArgThrValLysArgValValSerGlyLeuPheArgSerLeuGlnAsnAspSerValLysValArgSerAspLeuGluAsnValArgAspLeuAlaLeuTyrLeuProSerGlnAspGlyArgLeuValLysSerSerIleLeuValPheAspAspAlaProHisTyrLysSerArgIleGlnGlyAsnIleGlyValGlnMetLeuValAspLeuSerGlnCysTyrLeuGlyLysAspHisGlyPheHisThrLysLeuIleMetLeuPheProGlnLysLeuArgProArgLeuLeuSerSerIleLeuGluGluGlnLeuAspGluGluThrProLysValCysGlnPheGlyAlaLeuCysSerLeuGlnGlyArgLeuGlnLeuLeuLeuSerSerGluGlnPheIleThrGlyLeuIleArgIleMetLysHisGluAsnAspAsnAlaPheLeuAlaAsnGluGluLysAlaIleArgLeuCysLysAlaLeuArgGluGlyLeuLysValSerCysPheGluLysLeuGlnThrThrLeuArgValLysGlyPheAsnProIleProHisSerArgSerGluThrPheAlaPheLeuLysArgPheGlyAsnAlaValIleLeuLeuTyrIleGlnHisSerAspSerLysAspIleAsnPheLeuLeuAlaLeuAlaMetThrLeuLysSerAlaThrAspAsnLeuIleSerAspThrSerTyrLeuIleAlaMetLeuGlyCysAsnAspIleTyrArgIleGlyGluLysLeuAspSerLeuGlyValLysTyrAspSerSerGluProSerLysLeuGluLeuProMetProGlyThrProIleProAlaGluIleHisTyrThrLeuLeuMetAspProMetAsnValPheTyrProGlyGluTyrValGlyTyrLeuValAspAlaGluGlyGlyAspIleTyrGlySerTyrGlnProThrTyrThrTyrAlaIleIleValGlnGluValGluArgGluAspAlaAspAsnSerSerPheLeuGlyLysIleTyrGlnIleAspIleGlyTyrSerGluTyrLysIleValSerSerLeuAspLeuTyrLysPheSerArgProGluGluSerSerGlnSerArgAspSerAlaProSerThrProThrSerProThrGluPheLeuThrProGlyLeuArgSerIleProProLeuPheSerGlyArgGluSerHisLysThrSerSerLysHisGlnSerProLysLysLeuLysValAsnSerLeuProGluIleLeuLysGluValThrSerValValGluGlnAlaTrpLysLeuProGluSerGluArgLysLysIleIleArgArgLeuTyrLeuLysTrpHisProAspLysAsnProGluAsnHisAspIleAlaAsnGluValPheLysHisLeuGlnAsnGluIleAsnArgLeuGluLysGlnAlaPheLeuAspGlnAsnAlaAspArgAlaSerArgArgThrPheSerThrSerAlaSerArgPheGlnSerAspLysTyrSerPheGlnArgPheTyrThrSerTrpAsnGlnGluAlaThrSerHisLysSerGluArgGlnGlnGlnAsnLysGluLysCysProProSerAlaGlyGlnThrTyrSerGlnArgPhePheValProProThrPheLysSerValGlyAsnProValGluAlaArgArgTrpLeuArgGlnAlaArgAlaAsnPheSerAlaAlaArgAsnAspLeuHisLysAsnAlaAsnGluTrpValCysPheLysCysTyrLeuSerThrLysLeuAlaLeuIleAlaAlaAspTyrAlaValArgGlyLysSerAspLysAspValLysProThrAlaLeuAlaGlnLysIleGluGluTyrSerGlnGlnLeuGluGlyLeuThrAsnAspValHisThrLeuGluAlaTyrGlyValAspSerLeuLysThrArgTyrProAspLeuLeuProPheProGlnIleProAsnAspArgPheThrSerGluValAlaMetArgValMetGluCysThrAlaCysIleIleIleLysLeuGluAsnPheMetGlnGlnLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572005" }, { "coordinates": [ { "allele": "T", "end": 11572, "referenceAllele": "C", "start": 11571 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "XM_024449337.1:c.10933C>T" ], "proteinEffect": { "hgvs": "XP_024305105.1:p.Arg3645Ter", "hgvsWellDefined": "XP_024305105.1:p.Arg3645_Val4588delinsMetAspLeuLeuSerGlyAsnPheLeuLysGluLeuSerLeuIleProPheLeuCysProGluArgAlaProAlaGluPheIleArgPheHisProGlnTyrGlnGluValAsnGlyThrLeuProLeuIleLysPheAsnGlyAlaGlnValAsnProLysPheLysGlnCysAspValLeuGlnLeuLeuTrpThrSerCysProIleLeuProGluLysAlaThrProLeuSerIleLysGluGlnGluGlySerAspLeuGlyProGlnGluGlnLeuGluGlnValLeuAsnMetLeuAsnValAsnLeuAspProProLeuAspLysValIleAsnAsnCysArgAsnIleCysAsnIleThrThrLeuAspGluGluMetValLysThrArgAlaLysValLeuArgSerIleTyrGluPheLeuSerAlaGluLysArgGluPheArgPheGlnLeuArgGlyValAlaPheValMetValGluAspGlyTrpLysLeuLeuLysProGluGluValValIleAsnLeuGluTyrGluSerAspPheLysProTyrLeuTyrLysLeuProLeuGluLeuGlyThrPheHisGlnLeuPheLysHisLeuGlyThrGluAspIleIleSerThrLysGlnTyrValGluValLeuSerArgIlePheLysAsnSerGluGlyLysGlnLeuAspProAsnGluMetArgThrValLysArgValValSerGlyLeuPheArgSerLeuGlnAsnAspSerValLysValArgSerAspLeuGluAsnValArgAspLeuAlaLeuTyrLeuProSerGlnAspGlyArgLeuValLysSerSerIleLeuValPheAspAspAlaProHisTyrLysSerArgIleGlnGlyAsnIleGlyValGlnMetLeuValAspLeuSerGlnCysTyrLeuGlyLysAspHisGlyPheHisThrLysLeuIleMetLeuPheProGlnLysLeuArgProArgLeuLeuSerSerIleLeuGluGluGlnLeuAspGluGluThrProLysValCysGlnPheGlyAlaLeuCysSerLeuGlnGlyArgLeuGlnLeuLeuLeuSerSerGluGlnPheIleThrGlyLeuIleArgIleMetLysHisGluAsnAspAsnAlaPheLeuAlaAsnGluGluLysAlaIleArgLeuCysLysAlaLeuArgGluGlyLeuLysValSerCysPheGluLysLeuGlnThrThrLeuArgValLysGlyPheAsnProIleProHisSerArgSerGluThrPheAlaPheLeuLysArgPheGlyAsnAlaValIleLeuLeuTyrIleGlnHisSerAspSerLysAspIleAsnPheLeuLeuAlaLeuAlaMetThrLeuLysSerAlaThrAspAsnLeuIleSerAspThrSerTyrLeuIleAlaMetLeuGlyCysAsnAspIleTyrArgIleGlyGluLysLeuAspSerLeuGlyValLysTyrAspSerSerGluProSerLysLeuGluLeuProMetProGlyThrProIleProAlaGluIleHisTyrThrLeuLeuMetAspProMetAsnValPheTyrProGlyGluTyrValGlyTyrLeuValAspAlaGluGlyGlyAspIleTyrGlySerTyrGlnProThrTyrThrTyrAlaIleIleValGlnGluValGluArgGluAspAlaAspAsnSerSerPheLeuGlyLysIleTyrGlnIleAspIleGlyTyrSerGluTyrLysIleValSerSerLeuAspLeuTyrLysPheSerArgProGluGluSerSerGlnSerArgAspSerAlaProSerThrProThrSerProThrGluPheLeuThrProGlyLeuArgSerIleProProLeuPheSerGlyArgGluSerHisLysThrSerSerLysHisGlnSerProLysLysLeuLysValAsnSerLeuProGluIleLeuLysGluValThrSerValValGluGlnAlaTrpLysLeuProGluSerGluArgLysLysIleIleArgArgLeuTyrLeuLysTrpHisProAspLysAsnProGluAsnHisAspIleAlaAsnGluValPheLysHisLeuGlnAsnGluIleAsnArgLeuGluLysGlnAlaPheLeuAspGlnAsnAlaAspArgAlaSerArgArgThrPheSerThrSerAlaSerArgPheGlnSerAspLysTyrSerPheGlnArgPheTyrThrSerTrpAsnGlnGluAlaThrSerHisLysSerGluArgGlnGlnGlnAsnLysGluLysCysProProSerAlaGlyGlnThrTyrSerGlnArgPhePheValProProThrPheLysSerValGlyAsnProValGluAlaArgArgTrpLeuArgGlnAlaArgAlaAsnPheSerAlaAlaArgAsnAspLeuHisLysAsnAlaAsnGluTrpValCysPheLysCysTyrLeuSerThrLysLeuAlaLeuIleAlaAlaAspTyrAlaValArgGlyLysSerAspLysAspValLysProThrAlaLeuAlaGlnLysIleGluGluTyrSerGlnGlnLeuGluGlyLeuThrAsnAspValHisThrLeuGluAlaTyrGlyValAspSerLeuLysThrArgTyrProAspLeuLeuProPheProGlnIleProAsnAspArgPheThrSerGluValAlaMetArgValMetGluCysThrAlaCysIleIleIleLysLeuGluAsnPheMetGlnGlnLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582894" }, { "@id": "http://reg.genome.network/allele/PA276971", "coordinates": [ { "allele": "T", "end": 11495, "referenceAllele": "C", "start": 11494 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "NM_014363.6:c.10906C>T" ], "proteinEffect": { "hgvs": "NP_055178.3:p.Arg3636Ter", "hgvsWellDefined": "NP_055178.3:p.Arg3636_Val4579delinsMetAspLeuLeuSerGlyAsnPheLeuLysGluLeuSerLeuIleProPheLeuCysProGluArgAlaProAlaGluPheIleArgPheHisProGlnTyrGlnGluValAsnGlyThrLeuProLeuIleLysPheAsnGlyAlaGlnValAsnProLysPheLysGlnCysAspValLeuGlnLeuLeuTrpThrSerCysProIleLeuProGluLysAlaThrProLeuSerIleLysGluGlnGluGlySerAspLeuGlyProGlnGluGlnLeuGluGlnValLeuAsnMetLeuAsnValAsnLeuAspProProLeuAspLysValIleAsnAsnCysArgAsnIleCysAsnIleThrThrLeuAspGluGluMetValLysThrArgAlaLysValLeuArgSerIleTyrGluPheLeuSerAlaGluLysArgGluPheArgPheGlnLeuArgGlyValAlaPheValMetValGluAspGlyTrpLysLeuLeuLysProGluGluValValIleAsnLeuGluTyrGluSerAspPheLysProTyrLeuTyrLysLeuProLeuGluLeuGlyThrPheHisGlnLeuPheLysHisLeuGlyThrGluAspIleIleSerThrLysGlnTyrValGluValLeuSerArgIlePheLysAsnSerGluGlyLysGlnLeuAspProAsnGluMetArgThrValLysArgValValSerGlyLeuPheArgSerLeuGlnAsnAspSerValLysValArgSerAspLeuGluAsnValArgAspLeuAlaLeuTyrLeuProSerGlnAspGlyArgLeuValLysSerSerIleLeuValPheAspAspAlaProHisTyrLysSerArgIleGlnGlyAsnIleGlyValGlnMetLeuValAspLeuSerGlnCysTyrLeuGlyLysAspHisGlyPheHisThrLysLeuIleMetLeuPheProGlnLysLeuArgProArgLeuLeuSerSerIleLeuGluGluGlnLeuAspGluGluThrProLysValCysGlnPheGlyAlaLeuCysSerLeuGlnGlyArgLeuGlnLeuLeuLeuSerSerGluGlnPheIleThrGlyLeuIleArgIleMetLysHisGluAsnAspAsnAlaPheLeuAlaAsnGluGluLysAlaIleArgLeuCysLysAlaLeuArgGluGlyLeuLysValSerCysPheGluLysLeuGlnThrThrLeuArgValLysGlyPheAsnProIleProHisSerArgSerGluThrPheAlaPheLeuLysArgPheGlyAsnAlaValIleLeuLeuTyrIleGlnHisSerAspSerLysAspIleAsnPheLeuLeuAlaLeuAlaMetThrLeuLysSerAlaThrAspAsnLeuIleSerAspThrSerTyrLeuIleAlaMetLeuGlyCysAsnAspIleTyrArgIleGlyGluLysLeuAspSerLeuGlyValLysTyrAspSerSerGluProSerLysLeuGluLeuProMetProGlyThrProIleProAlaGluIleHisTyrThrLeuLeuMetAspProMetAsnValPheTyrProGlyGluTyrValGlyTyrLeuValAspAlaGluGlyGlyAspIleTyrGlySerTyrGlnProThrTyrThrTyrAlaIleIleValGlnGluValGluArgGluAspAlaAspAsnSerSerPheLeuGlyLysIleTyrGlnIleAspIleGlyTyrSerGluTyrLysIleValSerSerLeuAspLeuTyrLysPheSerArgProGluGluSerSerGlnSerArgAspSerAlaProSerThrProThrSerProThrGluPheLeuThrProGlyLeuArgSerIleProProLeuPheSerGlyArgGluSerHisLysThrSerSerLysHisGlnSerProLysLysLeuLysValAsnSerLeuProGluIleLeuLysGluValThrSerValValGluGlnAlaTrpLysLeuProGluSerGluArgLysLysIleIleArgArgLeuTyrLeuLysTrpHisProAspLysAsnProGluAsnHisAspIleAlaAsnGluValPheLysHisLeuGlnAsnGluIleAsnArgLeuGluLysGlnAlaPheLeuAspGlnAsnAlaAspArgAlaSerArgArgThrPheSerThrSerAlaSerArgPheGlnSerAspLysTyrSerPheGlnArgPheTyrThrSerTrpAsnGlnGluAlaThrSerHisLysSerGluArgGlnGlnGlnAsnLysGluLysCysProProSerAlaGlyGlnThrTyrSerGlnArgPhePheValProProThrPheLysSerValGlyAsnProValGluAlaArgArgTrpLeuArgGlnAlaArgAlaAsnPheSerAlaAlaArgAsnAspLeuHisLysAsnAlaAsnGluTrpValCysPheLysCysTyrLeuSerThrLysLeuAlaLeuIleAlaAlaAspTyrAlaValArgGlyLysSerAspLysAspValLysProThrAlaLeuAlaGlnLysIleGluGluTyrSerGlnGlnLeuGluGlyLeuThrAsnAspValHisThrLeuGluAlaTyrGlyValAspSerLeuLysThrArgTyrProAspLeuLeuProPheProGlnIleProAsnAspArgPheThrSerGluValAlaMetArgValMetGluCysThrAlaCysIleIleIleLysLeuGluAsnPheMetGlnGlnLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS668309", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000382292.9:c.10906C>T" }, "RefSeq": { "hgvs": "NM_014363.6:c.10906C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000371729.3:p.Arg3636Ter" }, "RefSeq": { "hgvs": "NP_055178.3:p.Arg3636Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826578345", "coordinates": [ { "allele": "T", "end": 10955, "referenceAllele": "C", "start": 10954 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "NM_001278055.2:c.10465C>T" ], "proteinEffect": { "hgvs": "NP_001264984.1:p.Arg3489Ter", "hgvsWellDefined": "NP_001264984.1:p.Arg3489_Val4432delinsMetAspLeuLeuSerGlyAsnPheLeuLysGluLeuSerLeuIleProPheLeuCysProGluArgAlaProAlaGluPheIleArgPheHisProGlnTyrGlnGluValAsnGlyThrLeuProLeuIleLysPheAsnGlyAlaGlnValAsnProLysPheLysGlnCysAspValLeuGlnLeuLeuTrpThrSerCysProIleLeuProGluLysAlaThrProLeuSerIleLysGluGlnGluGlySerAspLeuGlyProGlnGluGlnLeuGluGlnValLeuAsnMetLeuAsnValAsnLeuAspProProLeuAspLysValIleAsnAsnCysArgAsnIleCysAsnIleThrThrLeuAspGluGluMetValLysThrArgAlaLysValLeuArgSerIleTyrGluPheLeuSerAlaGluLysArgGluPheArgPheGlnLeuArgGlyValAlaPheValMetValGluAspGlyTrpLysLeuLeuLysProGluGluValValIleAsnLeuGluTyrGluSerAspPheLysProTyrLeuTyrLysLeuProLeuGluLeuGlyThrPheHisGlnLeuPheLysHisLeuGlyThrGluAspIleIleSerThrLysGlnTyrValGluValLeuSerArgIlePheLysAsnSerGluGlyLysGlnLeuAspProAsnGluMetArgThrValLysArgValValSerGlyLeuPheArgSerLeuGlnAsnAspSerValLysValArgSerAspLeuGluAsnValArgAspLeuAlaLeuTyrLeuProSerGlnAspGlyArgLeuValLysSerSerIleLeuValPheAspAspAlaProHisTyrLysSerArgIleGlnGlyAsnIleGlyValGlnMetLeuValAspLeuSerGlnCysTyrLeuGlyLysAspHisGlyPheHisThrLysLeuIleMetLeuPheProGlnLysLeuArgProArgLeuLeuSerSerIleLeuGluGluGlnLeuAspGluGluThrProLysValCysGlnPheGlyAlaLeuCysSerLeuGlnGlyArgLeuGlnLeuLeuLeuSerSerGluGlnPheIleThrGlyLeuIleArgIleMetLysHisGluAsnAspAsnAlaPheLeuAlaAsnGluGluLysAlaIleArgLeuCysLysAlaLeuArgGluGlyLeuLysValSerCysPheGluLysLeuGlnThrThrLeuArgValLysGlyPheAsnProIleProHisSerArgSerGluThrPheAlaPheLeuLysArgPheGlyAsnAlaValIleLeuLeuTyrIleGlnHisSerAspSerLysAspIleAsnPheLeuLeuAlaLeuAlaMetThrLeuLysSerAlaThrAspAsnLeuIleSerAspThrSerTyrLeuIleAlaMetLeuGlyCysAsnAspIleTyrArgIleGlyGluLysLeuAspSerLeuGlyValLysTyrAspSerSerGluProSerLysLeuGluLeuProMetProGlyThrProIleProAlaGluIleHisTyrThrLeuLeuMetAspProMetAsnValPheTyrProGlyGluTyrValGlyTyrLeuValAspAlaGluGlyGlyAspIleTyrGlySerTyrGlnProThrTyrThrTyrAlaIleIleValGlnGluValGluArgGluAspAlaAspAsnSerSerPheLeuGlyLysIleTyrGlnIleAspIleGlyTyrSerGluTyrLysIleValSerSerLeuAspLeuTyrLysPheSerArgProGluGluSerSerGlnSerArgAspSerAlaProSerThrProThrSerProThrGluPheLeuThrProGlyLeuArgSerIleProProLeuPheSerGlyArgGluSerHisLysThrSerSerLysHisGlnSerProLysLysLeuLysValAsnSerLeuProGluIleLeuLysGluValThrSerValValGluGlnAlaTrpLysLeuProGluSerGluArgLysLysIleIleArgArgLeuTyrLeuLysTrpHisProAspLysAsnProGluAsnHisAspIleAlaAsnGluValPheLysHisLeuGlnAsnGluIleAsnArgLeuGluLysGlnAlaPheLeuAspGlnAsnAlaAspArgAlaSerArgArgThrPheSerThrSerAlaSerArgPheGlnSerAspLysTyrSerPheGlnArgPheTyrThrSerTrpAsnGlnGluAlaThrSerHisLysSerGluArgGlnGlnGlnAsnLysGluLysCysProProSerAlaGlyGlnThrTyrSerGlnArgPhePheValProProThrPheLysSerValGlyAsnProValGluAlaArgArgTrpLeuArgGlnAlaArgAlaAsnPheSerAlaAlaArgAsnAspLeuHisLysAsnAlaAsnGluTrpValCysPheLysCysTyrLeuSerThrLysLeuAlaLeuIleAlaAlaAspTyrAlaValArgGlyLysSerAspLysAspValLysProThrAlaLeuAlaGlnLysIleGluGluTyrSerGlnGlnLeuGluGlyLeuThrAsnAspValHisThrLeuGluAlaTyrGlyValAspSerLeuLysThrArgTyrProAspLeuLeuProPheProGlnIleProAsnAspArgPheThrSerGluValAlaMetArgValMetGluCysThrAlaCysIleIleIleLysLeuGluAsnPheMetGlnGlnLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681389" } ], "type": "nucleotide" }