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}, "referenceSequence": "http://reg.genome.network/refseq/RS273698" }, { "coordinates": [ { "allele": "T", "end": 12019, "referenceAllele": "G", "start": 12018 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "ENST00000402364.1:c.9685G>T" ], "proteinEffect": { "hgvs": "ENSP00000385844.1:p.Glu3229Ter", "hgvsWellDefined": "ENSP00000385844.1:p.Glu3230_Val3829delinsGlnLeuAspGluGluThrProLysValCysGlnPheGlyAlaLeuCysSerLeuGlnGlyArgLeuGlnLeuLeuLeuSerSerGluGlnPheIleThrGlyLeuIleArgIleMetLysHisGluAsnAspAsnAlaPheLeuAlaAsnGluGluLysAlaIleArgLeuCysLysAlaLeuArgGluGlyLeuLysValSerCysPheGluLysLeuGlnThrThrLeuArgValLysGlyPheAsnProIleProHisSerArgSerGluThrPheAlaPheLeuLysArgPheGlyAsnAlaValIleLeuLeuTyrIleGlnHisSerAspSerLysAspIleAsnPheLeuLeuAlaLeuAlaMetThrLeuLysSerAlaThrAspAsnLeuIleSerAspThrSerTyrLeuIleAlaMetLeuGlyCysAsnAspIleTyrArgIleGlyGluLysLeuAspSerLeuGlyValLysTyrAspSerSerGluProSerLysLeuGluLeuProMetProGlyThrProIleProAlaGluIleHisTyrThrLeuLeuMetAspProMetAsnValPheTyrProGlyGluTyrValGlyTyrLeuValAspAlaGluGlyGlyAspIleTyrGlySerTyrGlnProThrTyrThrTyrAlaIleIleValGlnGluValGluArgGluAspAlaAspAsnSerSerPheLeuGlyLysIleTyrGlnIleAspIleGlyTyrSerGluTyrLysIleValSerSerLeuAspLeuTyrLysPheSerArgProGluGluSerSerGlnSerArgAspSerAlaProSerThrProThrSerProThrGluPheLeuThrProGlyLeuArgSerIleProProLeuPheSerGlyArgGluSerHisLysThrSerSerLysHisGlnSerProLysLysLeuLysValAsnSerLeuProGluIleLeuLysGluValThrSerValValGluGlnAlaTrpLysLeuProGluSerGluArgLysLysIleIleArgArgLeuTyrLeuLysTrpHisProAspLysAsnProGluAsnHisAspIleAlaAsnGluValPheLysHisLeuGlnAsnGluIleAsnArgLeuGluLysGlnAlaPheLeuAspGlnAsnAlaAspArgAlaSerArgArgThrPheSerThrSerAlaSerArgPheGlnSerAspLysTyrSerPheGlnArgPheTyrThrSerTrpAsnGlnGluAlaThrSerHisLysSerGluArgGlnGlnGlnAsnLysGluLysCysProProSerAlaGlyGlnThrTyrSerGlnArgPhePheValProProThrPheLysSerValGlyAsnProValGluAlaArgArgTrpLeuArgGlnAlaArgAlaAsnPheSerAlaAlaArgAsnAspLeuHisLysAsnAlaAsnGluTrpValCysPheLysCysTyrLeuSerThrLysLeuAlaLeuIleAlaAlaAspTyrAlaValArgGlyLysSerAspLysAspValLysProThrAlaLeuAlaGlnLysIleGluGluTyrSerGlnGlnLeuGluGlyLeuThrAsnAspValHisThrLeuGluAlaTyrGlyValAspSerLeuLysThrArgTyrProAspLeuLeuProPheProGlnIleProAsnAspArgPheThrSerGluValAlaMetArgValMetGluCysThrAlaCysIleIleIleLysLeuGluAsnPheMetGlnGlnLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS279490" }, { "coordinates": [ { "allele": "T", "end": 1057, "endIntronDirection": "-", "endIntronOffset": 2456, "referenceAllele": "G", "start": 1057, "startIntronDirection": "-", "startIntronOffset": 2457 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "ENST00000423156.1:c.1058-2457G>T" ], "proteinEffect": { "hgvs": "ENSP00000390925.1:n.1058-2457G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS287621" }, { "coordinates": [ { "allele": "T", "end": 2129, "endIntronDirection": "-", "endIntronOffset": 2456, "referenceAllele": "G", "start": 2129, "startIntronDirection": "-", "startIntronOffset": 2457 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "ENST00000455470.5:c.2130-2457G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS303060" }, { "@id": "http://reg.genome.network/allele/PA2826578590", "coordinates": [ { "allele": "T", "end": 12019, "referenceAllele": "G", "start": 12018 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "NM_001278055.1:c.11494G>T" ], "proteinEffect": { "hgvs": "NP_001264984.1:p.Glu3832Ter", "hgvsWellDefined": "NP_001264984.1:p.Glu3833_Val4432delinsGlnLeuAspGluGluThrProLysValCysGlnPheGlyAlaLeuCysSerLeuGlnGlyArgLeuGlnLeuLeuLeuSerSerGluGlnPheIleThrGlyLeuIleArgIleMetLysHisGluAsnAspAsnAlaPheLeuAlaAsnGluGluLysAlaIleArgLeuCysLysAlaLeuArgGluGlyLeuLysValSerCysPheGluLysLeuGlnThrThrLeuArgValLysGlyPheAsnProIleProHisSerArgSerGluThrPheAlaPheLeuLysArgPheGlyAsnAlaValIleLeuLeuTyrIleGlnHisSerAspSerLysAspIleAsnPheLeuLeuAlaLeuAlaMetThrLeuLysSerAlaThrAspAsnLeuIleSerAspThrSerTyrLeuIleAlaMetLeuGlyCysAsnAspIleTyrArgIleGlyGluLysLeuAspSerLeuGlyValLysTyrAspSerSerGluProSerLysLeuGluLeuProMetProGlyThrProIleProAlaGluIleHisTyrThrLeuLeuMetAspProMetAsnValPheTyrProGlyGluTyrValGlyTyrLeuValAspAlaGluGlyGlyAspIleTyrGlySerTyrGlnProThrTyrThrTyrAlaIleIleValGlnGluValGluArgGluAspAlaAspAsnSerSerPheLeuGlyLysIleTyrGlnIleAspIleGlyTyrSerGluTyrLysIleValSerSerLeuAspLeuTyrLysPheSerArgProGluGluSerSerGlnSerArgAspSerAlaProSerThrProThrSerProThrGluPheLeuThrProGlyLeuArgSerIleProProLeuPheSerGlyArgGluSerHisLysThrSerSerLysHisGlnSerProLysLysLeuLysValAsnSerLeuProGluIleLeuLysGluValThrSerValValGluGlnAlaTrpLysLeuProGluSerGluArgLysLysIleIleArgArgLeuTyrLeuLysTrpHisProAspLysAsnProGluAsnHisAspIleAlaAsnGluValPheLysHisLeuGlnAsnGluIleAsnArgLeuGluLysGlnAlaPheLeuAspGlnAsnAlaAspArgAlaSerArgArgThrPheSerThrSerAlaSerArgPheGlnSerAspLysTyrSerPheGlnArgPheTyrThrSerTrpAsnGlnGluAlaThrSerHisLysSerGluArgGlnGlnGlnAsnLysGluLysCysProProSerAlaGlyGlnThrTyrSerGlnArgPhePheValProProThrPheLysSerValGlyAsnProValGluAlaArgArgTrpLeuArgGlnAlaArgAlaAsnPheSerAlaAlaArgAsnAspLeuHisLysAsnAlaAsnGluTrpValCysPheLysCysTyrLeuSerThrLysLeuAlaLeuIleAlaAlaAspTyrAlaValArgGlyLysSerAspLysAspValLysProThrAlaLeuAlaGlnLysIleGluGluTyrSerGlnGlnLeuGluGlyLeuThrAsnAspValHisThrLeuGluAlaTyrGlyValAspSerLeuLysThrArgTyrProAspLeuLeuProPheProGlnIleProAsnAspArgPheThrSerGluValAlaMetArgValMetGluCysThrAlaCysIleIleIleLysLeuGluAsnPheMetGlnGlnLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS021054" }, { "@id": "http://reg.genome.network/allele/PA658831631", "coordinates": [ { "allele": "T", "end": 12550, "referenceAllele": "G", "start": 12549 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "NM_014363.5:c.11935G>T" ], "proteinEffect": { "hgvs": "NP_055178.3:p.Glu3979Ter", "hgvsWellDefined": "NP_055178.3:p.Glu3980_Val4579delinsGlnLeuAspGluGluThrProLysValCysGlnPheGlyAlaLeuCysSerLeuGlnGlyArgLeuGlnLeuLeuLeuSerSerGluGlnPheIleThrGlyLeuIleArgIleMetLysHisGluAsnAspAsnAlaPheLeuAlaAsnGluGluLysAlaIleArgLeuCysLysAlaLeuArgGluGlyLeuLysValSerCysPheGluLysLeuGlnThrThrLeuArgValLysGlyPheAsnProIleProHisSerArgSerGluThrPheAlaPheLeuLysArgPheGlyAsnAlaValIleLeuLeuTyrIleGlnHisSerAspSerLysAspIleAsnPheLeuLeuAlaLeuAlaMetThrLeuLysSerAlaThrAspAsnLeuIleSerAspThrSerTyrLeuIleAlaMetLeuGlyCysAsnAspIleTyrArgIleGlyGluLysLeuAspSerLeuGlyValLysTyrAspSerSerGluProSerLysLeuGluLeuProMetProGlyThrProIleProAlaGluIleHisTyrThrLeuLeuMetAspProMetAsnValPheTyrProGlyGluTyrValGlyTyrLeuValAspAlaGluGlyGlyAspIleTyrGlySerTyrGlnProThrTyrThrTyrAlaIleIleValGlnGluValGluArgGluAspAlaAspAsnSerSerPheLeuGlyLysIleTyrGlnIleAspIleGlyTyrSerGluTyrLysIleValSerSerLeuAspLeuTyrLysPheSerArgProGluGluSerSerGlnSerArgAspSerAlaProSerThrProThrSerProThrGluPheLeuThrProGlyLeuArgSerIleProProLeuPheSerGlyArgGluSerHisLysThrSerSerLysHisGlnSerProLysLysLeuLysValAsnSerLeuProGluIleLeuLysGluValThrSerValValGluGlnAlaTrpLysLeuProGluSerGluArgLysLysIleIleArgArgLeuTyrLeuLysTrpHisProAspLysAsnProGluAsnHisAspIleAlaAsnGluValPheLysHisLeuGlnAsnGluIleAsnArgLeuGluLysGlnAlaPheLeuAspGlnAsnAlaAspArgAlaSerArgArgThrPheSerThrSerAlaSerArgPheGlnSerAspLysTyrSerPheGlnArgPheTyrThrSerTrpAsnGlnGluAlaThrSerHisLysSerGluArgGlnGlnGlnAsnLysGluLysCysProProSerAlaGlyGlnThrTyrSerGlnArgPhePheValProProThrPheLysSerValGlyAsnProValGluAlaArgArgTrpLeuArgGlnAlaArgAlaAsnPheSerAlaAlaArgAsnAspLeuHisLysAsnAlaAsnGluTrpValCysPheLysCysTyrLeuSerThrLysLeuAlaLeuIleAlaAlaAspTyrAlaValArgGlyLysSerAspLysAspValLysProThrAlaLeuAlaGlnLysIleGluGluTyrSerGlnGlnLeuGluGlyLeuThrAsnAspValHisThrLeuGluAlaTyrGlyValAspSerLeuLysThrArgTyrProAspLeuLeuProPheProGlnIleProAsnAspArgPheThrSerGluValAlaMetArgValMetGluCysThrAlaCysIleIleIleLysLeuGluAsnPheMetGlnGlnLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033115" }, { "coordinates": [ { "allele": "T", "end": 12577, "referenceAllele": "G", "start": 12576 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "XM_005266338.1:c.11962G>T" ], "proteinEffect": { "hgvs": "XP_005266395.1:p.Glu3988Ter", "hgvsWellDefined": "XP_005266395.1:p.Glu3989_Val4588delinsGlnLeuAspGluGluThrProLysValCysGlnPheGlyAlaLeuCysSerLeuGlnGlyArgLeuGlnLeuLeuLeuSerSerGluGlnPheIleThrGlyLeuIleArgIleMetLysHisGluAsnAspAsnAlaPheLeuAlaAsnGluGluLysAlaIleArgLeuCysLysAlaLeuArgGluGlyLeuLysValSerCysPheGluLysLeuGlnThrThrLeuArgValLysGlyPheAsnProIleProHisSerArgSerGluThrPheAlaPheLeuLysArgPheGlyAsnAlaValIleLeuLeuTyrIleGlnHisSerAspSerLysAspIleAsnPheLeuLeuAlaLeuAlaMetThrLeuLysSerAlaThrAspAsnLeuIleSerAspThrSerTyrLeuIleAlaMetLeuGlyCysAsnAspIleTyrArgIleGlyGluLysLeuAspSerLeuGlyValLysTyrAspSerSerGluProSerLysLeuGluLeuProMetProGlyThrProIleProAlaGluIleHisTyrThrLeuLeuMetAspProMetAsnValPheTyrProGlyGluTyrValGlyTyrLeuValAspAlaGluGlyGlyAspIleTyrGlySerTyrGlnProThrTyrThrTyrAlaIleIleValGlnGluValGluArgGluAspAlaAspAsnSerSerPheLeuGlyLysIleTyrGlnIleAspIleGlyTyrSerGluTyrLysIleValSerSerLeuAspLeuTyrLysPheSerArgProGluGluSerSerGlnSerArgAspSerAlaProSerThrProThrSerProThrGluPheLeuThrProGlyLeuArgSerIleProProLeuPheSerGlyArgGluSerHisLysThrSerSerLysHisGlnSerProLysLysLeuLysValAsnSerLeuProGluIleLeuLysGluValThrSerValValGluGlnAlaTrpLysLeuProGluSerGluArgLysLysIleIleArgArgLeuTyrLeuLysTrpHisProAspLysAsnProGluAsnHisAspIleAlaAsnGluValPheLysHisLeuGlnAsnGluIleAsnArgLeuGluLysGlnAlaPheLeuAspGlnAsnAlaAspArgAlaSerArgArgThrPheSerThrSerAlaSerArgPheGlnSerAspLysTyrSerPheGlnArgPheTyrThrSerTrpAsnGlnGluAlaThrSerHisLysSerGluArgGlnGlnGlnAsnLysGluLysCysProProSerAlaGlyGlnThrTyrSerGlnArgPhePheValProProThrPheLysSerValGlyAsnProValGluAlaArgArgTrpLeuArgGlnAlaArgAlaAsnPheSerAlaAlaArgAsnAspLeuHisLysAsnAlaAsnGluTrpValCysPheLysCysTyrLeuSerThrLysLeuAlaLeuIleAlaAlaAspTyrAlaValArgGlyLysSerAspLysAspValLysProThrAlaLeuAlaGlnLysIleGluGluTyrSerGlnGlnLeuGluGlyLeuThrAsnAspValHisThrLeuGluAlaTyrGlyValAspSerLeuLysThrArgTyrProAspLeuLeuProPheProGlnIleProAsnAspArgPheThrSerGluValAlaMetArgValMetGluCysThrAlaCysIleIleIleLysLeuGluAsnPheMetGlnGlnLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065016" }, { "coordinates": [ { "allele": "T", "end": 12004, "referenceAllele": "G", "start": 12003 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "XM_011535038.1:c.11986G>T" ], "proteinEffect": { "hgvs": "XP_011533340.1:p.Glu3996Ter", "hgvsWellDefined": "XP_011533340.1:p.Glu3997_Val4596delinsGlnLeuAspGluGluThrProLysValCysGlnPheGlyAlaLeuCysSerLeuGlnGlyArgLeuGlnLeuLeuLeuSerSerGluGlnPheIleThrGlyLeuIleArgIleMetLysHisGluAsnAspAsnAlaPheLeuAlaAsnGluGluLysAlaIleArgLeuCysLysAlaLeuArgGluGlyLeuLysValSerCysPheGluLysLeuGlnThrThrLeuArgValLysGlyPheAsnProIleProHisSerArgSerGluThrPheAlaPheLeuLysArgPheGlyAsnAlaValIleLeuLeuTyrIleGlnHisSerAspSerLysAspIleAsnPheLeuLeuAlaLeuAlaMetThrLeuLysSerAlaThrAspAsnLeuIleSerAspThrSerTyrLeuIleAlaMetLeuGlyCysAsnAspIleTyrArgIleGlyGluLysLeuAspSerLeuGlyValLysTyrAspSerSerGluProSerLysLeuGluLeuProMetProGlyThrProIleProAlaGluIleHisTyrThrLeuLeuMetAspProMetAsnValPheTyrProGlyGluTyrValGlyTyrLeuValAspAlaGluGlyGlyAspIleTyrGlySerTyrGlnProThrTyrThrTyrAlaIleIleValGlnGluValGluArgGluAspAlaAspAsnSerSerPheLeuGlyLysIleTyrGlnIleAspIleGlyTyrSerGluTyrLysIleValSerSerLeuAspLeuTyrLysPheSerArgProGluGluSerSerGlnSerArgAspSerAlaProSerThrProThrSerProThrGluPheLeuThrProGlyLeuArgSerIleProProLeuPheSerGlyArgGluSerHisLysThrSerSerLysHisGlnSerProLysLysLeuLysValAsnSerLeuProGluIleLeuLysGluValThrSerValValGluGlnAlaTrpLysLeuProGluSerGluArgLysLysIleIleArgArgLeuTyrLeuLysTrpHisProAspLysAsnProGluAsnHisAspIleAlaAsnGluValPheLysHisLeuGlnAsnGluIleAsnArgLeuGluLysGlnAlaPheLeuAspGlnAsnAlaAspArgAlaSerArgArgThrPheSerThrSerAlaSerArgPheGlnSerAspLysTyrSerPheGlnArgPheTyrThrSerTrpAsnGlnGluAlaThrSerHisLysSerGluArgGlnGlnGlnAsnLysGluLysCysProProSerAlaGlyGlnThrTyrSerGlnArgPhePheValProProThrPheLysSerValGlyAsnProValGluAlaArgArgTrpLeuArgGlnAlaArgAlaAsnPheSerAlaAlaArgAsnAspLeuHisLysAsnAlaAsnGluTrpValCysPheLysCysTyrLeuSerThrLysLeuAlaLeuIleAlaAlaAspTyrAlaValArgGlyLysSerAspLysAspValLysProThrAlaLeuAlaGlnLysIleGluGluTyrSerGlnGlnLeuGluGlyLeuThrAsnAspValHisThrLeuGluAlaTyrGlyValAspSerLeuLysThrArgTyrProAspLeuLeuProPheProGlnIleProAsnAspArgPheThrSerGluValAlaMetArgValMetGluCysThrAlaCysIleIleIleLysLeuGluAsnPheMetGlnGlnLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102048" }, { "coordinates": [ { "allele": "T", "end": 12074, "referenceAllele": "G", "start": 12073 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "XM_011535039.1:c.11953G>T" ], "proteinEffect": { "hgvs": "XP_011533341.1:p.Glu3985Ter", "hgvsWellDefined": "XP_011533341.1:p.Glu3986_Val4585delinsGlnLeuAspGluGluThrProLysValCysGlnPheGlyAlaLeuCysSerLeuGlnGlyArgLeuGlnLeuLeuLeuSerSerGluGlnPheIleThrGlyLeuIleArgIleMetLysHisGluAsnAspAsnAlaPheLeuAlaAsnGluGluLysAlaIleArgLeuCysLysAlaLeuArgGluGlyLeuLysValSerCysPheGluLysLeuGlnThrThrLeuArgValLysGlyPheAsnProIleProHisSerArgSerGluThrPheAlaPheLeuLysArgPheGlyAsnAlaValIleLeuLeuTyrIleGlnHisSerAspSerLysAspIleAsnPheLeuLeuAlaLeuAlaMetThrLeuLysSerAlaThrAspAsnLeuIleSerAspThrSerTyrLeuIleAlaMetLeuGlyCysAsnAspIleTyrArgIleGlyGluLysLeuAspSerLeuGlyValLysTyrAspSerSerGluProSerLysLeuGluLeuProMetProGlyThrProIleProAlaGluIleHisTyrThrLeuLeuMetAspProMetAsnValPheTyrProGlyGluTyrValGlyTyrLeuValAspAlaGluGlyGlyAspIleTyrGlySerTyrGlnProThrTyrThrTyrAlaIleIleValGlnGluValGluArgGluAspAlaAspAsnSerSerPheLeuGlyLysIleTyrGlnIleAspIleGlyTyrSerGluTyrLysIleValSerSerLeuAspLeuTyrLysPheSerArgProGluGluSerSerGlnSerArgAspSerAlaProSerThrProThrSerProThrGluPheLeuThrProGlyLeuArgSerIleProProLeuPheSerGlyArgGluSerHisLysThrSerSerLysHisGlnSerProLysLysLeuLysValAsnSerLeuProGluIleLeuLysGluValThrSerValValGluGlnAlaTrpLysLeuProGluSerGluArgLysLysIleIleArgArgLeuTyrLeuLysTrpHisProAspLysAsnProGluAsnHisAspIleAlaAsnGluValPheLysHisLeuGlnAsnGluIleAsnArgLeuGluLysGlnAlaPheLeuAspGlnAsnAlaAspArgAlaSerArgArgThrPheSerThrSerAlaSerArgPheGlnSerAspLysTyrSerPheGlnArgPheTyrThrSerTrpAsnGlnGluAlaThrSerHisLysSerGluArgGlnGlnGlnAsnLysGluLysCysProProSerAlaGlyGlnThrTyrSerGlnArgPhePheValProProThrPheLysSerValGlyAsnProValGluAlaArgArgTrpLeuArgGlnAlaArgAlaAsnPheSerAlaAlaArgAsnAspLeuHisLysAsnAlaAsnGluTrpValCysPheLysCysTyrLeuSerThrLysLeuAlaLeuIleAlaAlaAspTyrAlaValArgGlyLysSerAspLysAspValLysProThrAlaLeuAlaGlnLysIleGluGluTyrSerGlnGlnLeuGluGlyLeuThrAsnAspValHisThrLeuGluAlaTyrGlyValAspSerLeuLysThrArgTyrProAspLeuLeuProPheProGlnIleProAsnAspArgPheThrSerGluValAlaMetArgValMetGluCysThrAlaCysIleIleIleLysLeuGluAsnPheMetGlnGlnLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102049" }, { "coordinates": [ { "allele": "T", "end": 12577, "referenceAllele": "G", "start": 12576 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "XM_005266338.2:c.11962G>T" ], "proteinEffect": { "hgvs": "XP_005266395.1:p.Glu3988Ter", "hgvsWellDefined": "XP_005266395.1:p.Glu3989_Val4588delinsGlnLeuAspGluGluThrProLysValCysGlnPheGlyAlaLeuCysSerLeuGlnGlyArgLeuGlnLeuLeuLeuSerSerGluGlnPheIleThrGlyLeuIleArgIleMetLysHisGluAsnAspAsnAlaPheLeuAlaAsnGluGluLysAlaIleArgLeuCysLysAlaLeuArgGluGlyLeuLysValSerCysPheGluLysLeuGlnThrThrLeuArgValLysGlyPheAsnProIleProHisSerArgSerGluThrPheAlaPheLeuLysArgPheGlyAsnAlaValIleLeuLeuTyrIleGlnHisSerAspSerLysAspIleAsnPheLeuLeuAlaLeuAlaMetThrLeuLysSerAlaThrAspAsnLeuIleSerAspThrSerTyrLeuIleAlaMetLeuGlyCysAsnAspIleTyrArgIleGlyGluLysLeuAspSerLeuGlyValLysTyrAspSerSerGluProSerLysLeuGluLeuProMetProGlyThrProIleProAlaGluIleHisTyrThrLeuLeuMetAspProMetAsnValPheTyrProGlyGluTyrValGlyTyrLeuValAspAlaGluGlyGlyAspIleTyrGlySerTyrGlnProThrTyrThrTyrAlaIleIleValGlnGluValGluArgGluAspAlaAspAsnSerSerPheLeuGlyLysIleTyrGlnIleAspIleGlyTyrSerGluTyrLysIleValSerSerLeuAspLeuTyrLysPheSerArgProGluGluSerSerGlnSerArgAspSerAlaProSerThrProThrSerProThrGluPheLeuThrProGlyLeuArgSerIleProProLeuPheSerGlyArgGluSerHisLysThrSerSerLysHisGlnSerProLysLysLeuLysValAsnSerLeuProGluIleLeuLysGluValThrSerValValGluGlnAlaTrpLysLeuProGluSerGluArgLysLysIleIleArgArgLeuTyrLeuLysTrpHisProAspLysAsnProGluAsnHisAspIleAlaAsnGluValPheLysHisLeuGlnAsnGluIleAsnArgLeuGluLysGlnAlaPheLeuAspGlnAsnAlaAspArgAlaSerArgArgThrPheSerThrSerAlaSerArgPheGlnSerAspLysTyrSerPheGlnArgPheTyrThrSerTrpAsnGlnGluAlaThrSerHisLysSerGluArgGlnGlnGlnAsnLysGluLysCysProProSerAlaGlyGlnThrTyrSerGlnArgPhePheValProProThrPheLysSerValGlyAsnProValGluAlaArgArgTrpLeuArgGlnAlaArgAlaAsnPheSerAlaAlaArgAsnAspLeuHisLysAsnAlaAsnGluTrpValCysPheLysCysTyrLeuSerThrLysLeuAlaLeuIleAlaAlaAspTyrAlaValArgGlyLysSerAspLysAspValLysProThrAlaLeuAlaGlnLysIleGluGluTyrSerGlnGlnLeuGluGlyLeuThrAsnAspValHisThrLeuGluAlaTyrGlyValAspSerLeuLysThrArgTyrProAspLeuLeuProPheProGlnIleProAsnAspArgPheThrSerGluValAlaMetArgValMetGluCysThrAlaCysIleIleIleLysLeuGluAsnPheMetGlnGlnLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536218" }, { "coordinates": [ { "allele": "T", "end": 12185, "referenceAllele": "G", "start": 12184 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "XM_011535039.2:c.11953G>T" ], "proteinEffect": { "hgvs": "XP_011533341.1:p.Glu3985Ter", "hgvsWellDefined": "XP_011533341.1:p.Glu3986_Val4585delinsGlnLeuAspGluGluThrProLysValCysGlnPheGlyAlaLeuCysSerLeuGlnGlyArgLeuGlnLeuLeuLeuSerSerGluGlnPheIleThrGlyLeuIleArgIleMetLysHisGluAsnAspAsnAlaPheLeuAlaAsnGluGluLysAlaIleArgLeuCysLysAlaLeuArgGluGlyLeuLysValSerCysPheGluLysLeuGlnThrThrLeuArgValLysGlyPheAsnProIleProHisSerArgSerGluThrPheAlaPheLeuLysArgPheGlyAsnAlaValIleLeuLeuTyrIleGlnHisSerAspSerLysAspIleAsnPheLeuLeuAlaLeuAlaMetThrLeuLysSerAlaThrAspAsnLeuIleSerAspThrSerTyrLeuIleAlaMetLeuGlyCysAsnAspIleTyrArgIleGlyGluLysLeuAspSerLeuGlyValLysTyrAspSerSerGluProSerLysLeuGluLeuProMetProGlyThrProIleProAlaGluIleHisTyrThrLeuLeuMetAspProMetAsnValPheTyrProGlyGluTyrValGlyTyrLeuValAspAlaGluGlyGlyAspIleTyrGlySerTyrGlnProThrTyrThrTyrAlaIleIleValGlnGluValGluArgGluAspAlaAspAsnSerSerPheLeuGlyLysIleTyrGlnIleAspIleGlyTyrSerGluTyrLysIleValSerSerLeuAspLeuTyrLysPheSerArgProGluGluSerSerGlnSerArgAspSerAlaProSerThrProThrSerProThrGluPheLeuThrProGlyLeuArgSerIleProProLeuPheSerGlyArgGluSerHisLysThrSerSerLysHisGlnSerProLysLysLeuLysValAsnSerLeuProGluIleLeuLysGluValThrSerValValGluGlnAlaTrpLysLeuProGluSerGluArgLysLysIleIleArgArgLeuTyrLeuLysTrpHisProAspLysAsnProGluAsnHisAspIleAlaAsnGluValPheLysHisLeuGlnAsnGluIleAsnArgLeuGluLysGlnAlaPheLeuAspGlnAsnAlaAspArgAlaSerArgArgThrPheSerThrSerAlaSerArgPheGlnSerAspLysTyrSerPheGlnArgPheTyrThrSerTrpAsnGlnGluAlaThrSerHisLysSerGluArgGlnGlnGlnAsnLysGluLysCysProProSerAlaGlyGlnThrTyrSerGlnArgPhePheValProProThrPheLysSerValGlyAsnProValGluAlaArgArgTrpLeuArgGlnAlaArgAlaAsnPheSerAlaAlaArgAsnAspLeuHisLysAsnAlaAsnGluTrpValCysPheLysCysTyrLeuSerThrLysLeuAlaLeuIleAlaAlaAspTyrAlaValArgGlyLysSerAspLysAspValLysProThrAlaLeuAlaGlnLysIleGluGluTyrSerGlnGlnLeuGluGlyLeuThrAsnAspValHisThrLeuGluAlaTyrGlyValAspSerLeuLysThrArgTyrProAspLeuLeuProPheProGlnIleProAsnAspArgPheThrSerGluValAlaMetArgValMetGluCysThrAlaCysIleIleIleLysLeuGluAsnPheMetGlnGlnLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS551886" }, { "coordinates": [ { "allele": "T", "end": 12158, "referenceAllele": "G", "start": 12157 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "XM_017020539.1:c.11926G>T" ], "proteinEffect": { "hgvs": "XP_016876028.1:p.Glu3976Ter", "hgvsWellDefined": "XP_016876028.1:p.Glu3977_Val4576delinsGlnLeuAspGluGluThrProLysValCysGlnPheGlyAlaLeuCysSerLeuGlnGlyArgLeuGlnLeuLeuLeuSerSerGluGlnPheIleThrGlyLeuIleArgIleMetLysHisGluAsnAspAsnAlaPheLeuAlaAsnGluGluLysAlaIleArgLeuCysLysAlaLeuArgGluGlyLeuLysValSerCysPheGluLysLeuGlnThrThrLeuArgValLysGlyPheAsnProIleProHisSerArgSerGluThrPheAlaPheLeuLysArgPheGlyAsnAlaValIleLeuLeuTyrIleGlnHisSerAspSerLysAspIleAsnPheLeuLeuAlaLeuAlaMetThrLeuLysSerAlaThrAspAsnLeuIleSerAspThrSerTyrLeuIleAlaMetLeuGlyCysAsnAspIleTyrArgIleGlyGluLysLeuAspSerLeuGlyValLysTyrAspSerSerGluProSerLysLeuGluLeuProMetProGlyThrProIleProAlaGluIleHisTyrThrLeuLeuMetAspProMetAsnValPheTyrProGlyGluTyrValGlyTyrLeuValAspAlaGluGlyGlyAspIleTyrGlySerTyrGlnProThrTyrThrTyrAlaIleIleValGlnGluValGluArgGluAspAlaAspAsnSerSerPheLeuGlyLysIleTyrGlnIleAspIleGlyTyrSerGluTyrLysIleValSerSerLeuAspLeuTyrLysPheSerArgProGluGluSerSerGlnSerArgAspSerAlaProSerThrProThrSerProThrGluPheLeuThrProGlyLeuArgSerIleProProLeuPheSerGlyArgGluSerHisLysThrSerSerLysHisGlnSerProLysLysLeuLysValAsnSerLeuProGluIleLeuLysGluValThrSerValValGluGlnAlaTrpLysLeuProGluSerGluArgLysLysIleIleArgArgLeuTyrLeuLysTrpHisProAspLysAsnProGluAsnHisAspIleAlaAsnGluValPheLysHisLeuGlnAsnGluIleAsnArgLeuGluLysGlnAlaPheLeuAspGlnAsnAlaAspArgAlaSerArgArgThrPheSerThrSerAlaSerArgPheGlnSerAspLysTyrSerPheGlnArgPheTyrThrSerTrpAsnGlnGluAlaThrSerHisLysSerGluArgGlnGlnGlnAsnLysGluLysCysProProSerAlaGlyGlnThrTyrSerGlnArgPhePheValProProThrPheLysSerValGlyAsnProValGluAlaArgArgTrpLeuArgGlnAlaArgAlaAsnPheSerAlaAlaArgAsnAspLeuHisLysAsnAlaAsnGluTrpValCysPheLysCysTyrLeuSerThrLysLeuAlaLeuIleAlaAlaAspTyrAlaValArgGlyLysSerAspLysAspValLysProThrAlaLeuAlaGlnLysIleGluGluTyrSerGlnGlnLeuGluGlyLeuThrAsnAspValHisThrLeuGluAlaTyrGlyValAspSerLeuLysThrArgTyrProAspLeuLeuProPheProGlnIleProAsnAspArgPheThrSerGluValAlaMetArgValMetGluCysThrAlaCysIleIleIleLysLeuGluAsnPheMetGlnGlnLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572005" }, { "coordinates": [ { "allele": "T", "end": 12601, "referenceAllele": "G", "start": 12600 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "XM_024449337.1:c.11962G>T" ], "proteinEffect": { "hgvs": "XP_024305105.1:p.Glu3988Ter", "hgvsWellDefined": "XP_024305105.1:p.Glu3989_Val4588delinsGlnLeuAspGluGluThrProLysValCysGlnPheGlyAlaLeuCysSerLeuGlnGlyArgLeuGlnLeuLeuLeuSerSerGluGlnPheIleThrGlyLeuIleArgIleMetLysHisGluAsnAspAsnAlaPheLeuAlaAsnGluGluLysAlaIleArgLeuCysLysAlaLeuArgGluGlyLeuLysValSerCysPheGluLysLeuGlnThrThrLeuArgValLysGlyPheAsnProIleProHisSerArgSerGluThrPheAlaPheLeuLysArgPheGlyAsnAlaValIleLeuLeuTyrIleGlnHisSerAspSerLysAspIleAsnPheLeuLeuAlaLeuAlaMetThrLeuLysSerAlaThrAspAsnLeuIleSerAspThrSerTyrLeuIleAlaMetLeuGlyCysAsnAspIleTyrArgIleGlyGluLysLeuAspSerLeuGlyValLysTyrAspSerSerGluProSerLysLeuGluLeuProMetProGlyThrProIleProAlaGluIleHisTyrThrLeuLeuMetAspProMetAsnValPheTyrProGlyGluTyrValGlyTyrLeuValAspAlaGluGlyGlyAspIleTyrGlySerTyrGlnProThrTyrThrTyrAlaIleIleValGlnGluValGluArgGluAspAlaAspAsnSerSerPheLeuGlyLysIleTyrGlnIleAspIleGlyTyrSerGluTyrLysIleValSerSerLeuAspLeuTyrLysPheSerArgProGluGluSerSerGlnSerArgAspSerAlaProSerThrProThrSerProThrGluPheLeuThrProGlyLeuArgSerIleProProLeuPheSerGlyArgGluSerHisLysThrSerSerLysHisGlnSerProLysLysLeuLysValAsnSerLeuProGluIleLeuLysGluValThrSerValValGluGlnAlaTrpLysLeuProGluSerGluArgLysLysIleIleArgArgLeuTyrLeuLysTrpHisProAspLysAsnProGluAsnHisAspIleAlaAsnGluValPheLysHisLeuGlnAsnGluIleAsnArgLeuGluLysGlnAlaPheLeuAspGlnAsnAlaAspArgAlaSerArgArgThrPheSerThrSerAlaSerArgPheGlnSerAspLysTyrSerPheGlnArgPheTyrThrSerTrpAsnGlnGluAlaThrSerHisLysSerGluArgGlnGlnGlnAsnLysGluLysCysProProSerAlaGlyGlnThrTyrSerGlnArgPhePheValProProThrPheLysSerValGlyAsnProValGluAlaArgArgTrpLeuArgGlnAlaArgAlaAsnPheSerAlaAlaArgAsnAspLeuHisLysAsnAlaAsnGluTrpValCysPheLysCysTyrLeuSerThrLysLeuAlaLeuIleAlaAlaAspTyrAlaValArgGlyLysSerAspLysAspValLysProThrAlaLeuAlaGlnLysIleGluGluTyrSerGlnGlnLeuGluGlyLeuThrAsnAspValHisThrLeuGluAlaTyrGlyValAspSerLeuLysThrArgTyrProAspLeuLeuProPheProGlnIleProAsnAspArgPheThrSerGluValAlaMetArgValMetGluCysThrAlaCysIleIleIleLysLeuGluAsnPheMetGlnGlnLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582894" }, { "@id": "http://reg.genome.network/allele/PA658831631", "coordinates": [ { "allele": "T", "end": 12524, "referenceAllele": "G", "start": 12523 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "NM_014363.6:c.11935G>T" ], "proteinEffect": { "hgvs": "NP_055178.3:p.Glu3979Ter", "hgvsWellDefined": "NP_055178.3:p.Glu3980_Val4579delinsGlnLeuAspGluGluThrProLysValCysGlnPheGlyAlaLeuCysSerLeuGlnGlyArgLeuGlnLeuLeuLeuSerSerGluGlnPheIleThrGlyLeuIleArgIleMetLysHisGluAsnAspAsnAlaPheLeuAlaAsnGluGluLysAlaIleArgLeuCysLysAlaLeuArgGluGlyLeuLysValSerCysPheGluLysLeuGlnThrThrLeuArgValLysGlyPheAsnProIleProHisSerArgSerGluThrPheAlaPheLeuLysArgPheGlyAsnAlaValIleLeuLeuTyrIleGlnHisSerAspSerLysAspIleAsnPheLeuLeuAlaLeuAlaMetThrLeuLysSerAlaThrAspAsnLeuIleSerAspThrSerTyrLeuIleAlaMetLeuGlyCysAsnAspIleTyrArgIleGlyGluLysLeuAspSerLeuGlyValLysTyrAspSerSerGluProSerLysLeuGluLeuProMetProGlyThrProIleProAlaGluIleHisTyrThrLeuLeuMetAspProMetAsnValPheTyrProGlyGluTyrValGlyTyrLeuValAspAlaGluGlyGlyAspIleTyrGlySerTyrGlnProThrTyrThrTyrAlaIleIleValGlnGluValGluArgGluAspAlaAspAsnSerSerPheLeuGlyLysIleTyrGlnIleAspIleGlyTyrSerGluTyrLysIleValSerSerLeuAspLeuTyrLysPheSerArgProGluGluSerSerGlnSerArgAspSerAlaProSerThrProThrSerProThrGluPheLeuThrProGlyLeuArgSerIleProProLeuPheSerGlyArgGluSerHisLysThrSerSerLysHisGlnSerProLysLysLeuLysValAsnSerLeuProGluIleLeuLysGluValThrSerValValGluGlnAlaTrpLysLeuProGluSerGluArgLysLysIleIleArgArgLeuTyrLeuLysTrpHisProAspLysAsnProGluAsnHisAspIleAlaAsnGluValPheLysHisLeuGlnAsnGluIleAsnArgLeuGluLysGlnAlaPheLeuAspGlnAsnAlaAspArgAlaSerArgArgThrPheSerThrSerAlaSerArgPheGlnSerAspLysTyrSerPheGlnArgPheTyrThrSerTrpAsnGlnGluAlaThrSerHisLysSerGluArgGlnGlnGlnAsnLysGluLysCysProProSerAlaGlyGlnThrTyrSerGlnArgPhePheValProProThrPheLysSerValGlyAsnProValGluAlaArgArgTrpLeuArgGlnAlaArgAlaAsnPheSerAlaAlaArgAsnAspLeuHisLysAsnAlaAsnGluTrpValCysPheLysCysTyrLeuSerThrLysLeuAlaLeuIleAlaAlaAspTyrAlaValArgGlyLysSerAspLysAspValLysProThrAlaLeuAlaGlnLysIleGluGluTyrSerGlnGlnLeuGluGlyLeuThrAsnAspValHisThrLeuGluAlaTyrGlyValAspSerLeuLysThrArgTyrProAspLeuLeuProPheProGlnIleProAsnAspArgPheThrSerGluValAlaMetArgValMetGluCysThrAlaCysIleIleIleLysLeuGluAsnPheMetGlnGlnLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS668309", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000382292.9:c.11935G>T" }, "RefSeq": { "hgvs": "NM_014363.6:c.11935G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000371729.3:p.Glu3979Ter" }, "RefSeq": { "hgvs": "NP_055178.3:p.Glu3979Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826578590", "coordinates": [ { "allele": "T", "end": 11984, "referenceAllele": "G", "start": 11983 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "NM_001278055.2:c.11494G>T" ], "proteinEffect": { "hgvs": "NP_001264984.1:p.Glu3832Ter", "hgvsWellDefined": "NP_001264984.1:p.Glu3833_Val4432delinsGlnLeuAspGluGluThrProLysValCysGlnPheGlyAlaLeuCysSerLeuGlnGlyArgLeuGlnLeuLeuLeuSerSerGluGlnPheIleThrGlyLeuIleArgIleMetLysHisGluAsnAspAsnAlaPheLeuAlaAsnGluGluLysAlaIleArgLeuCysLysAlaLeuArgGluGlyLeuLysValSerCysPheGluLysLeuGlnThrThrLeuArgValLysGlyPheAsnProIleProHisSerArgSerGluThrPheAlaPheLeuLysArgPheGlyAsnAlaValIleLeuLeuTyrIleGlnHisSerAspSerLysAspIleAsnPheLeuLeuAlaLeuAlaMetThrLeuLysSerAlaThrAspAsnLeuIleSerAspThrSerTyrLeuIleAlaMetLeuGlyCysAsnAspIleTyrArgIleGlyGluLysLeuAspSerLeuGlyValLysTyrAspSerSerGluProSerLysLeuGluLeuProMetProGlyThrProIleProAlaGluIleHisTyrThrLeuLeuMetAspProMetAsnValPheTyrProGlyGluTyrValGlyTyrLeuValAspAlaGluGlyGlyAspIleTyrGlySerTyrGlnProThrTyrThrTyrAlaIleIleValGlnGluValGluArgGluAspAlaAspAsnSerSerPheLeuGlyLysIleTyrGlnIleAspIleGlyTyrSerGluTyrLysIleValSerSerLeuAspLeuTyrLysPheSerArgProGluGluSerSerGlnSerArgAspSerAlaProSerThrProThrSerProThrGluPheLeuThrProGlyLeuArgSerIleProProLeuPheSerGlyArgGluSerHisLysThrSerSerLysHisGlnSerProLysLysLeuLysValAsnSerLeuProGluIleLeuLysGluValThrSerValValGluGlnAlaTrpLysLeuProGluSerGluArgLysLysIleIleArgArgLeuTyrLeuLysTrpHisProAspLysAsnProGluAsnHisAspIleAlaAsnGluValPheLysHisLeuGlnAsnGluIleAsnArgLeuGluLysGlnAlaPheLeuAspGlnAsnAlaAspArgAlaSerArgArgThrPheSerThrSerAlaSerArgPheGlnSerAspLysTyrSerPheGlnArgPheTyrThrSerTrpAsnGlnGluAlaThrSerHisLysSerGluArgGlnGlnGlnAsnLysGluLysCysProProSerAlaGlyGlnThrTyrSerGlnArgPhePheValProProThrPheLysSerValGlyAsnProValGluAlaArgArgTrpLeuArgGlnAlaArgAlaAsnPheSerAlaAlaArgAsnAspLeuHisLysAsnAlaAsnGluTrpValCysPheLysCysTyrLeuSerThrLysLeuAlaLeuIleAlaAlaAspTyrAlaValArgGlyLysSerAspLysAspValLysProThrAlaLeuAlaGlnLysIleGluGluTyrSerGlnGlnLeuGluGlyLeuThrAsnAspValHisThrLeuGluAlaTyrGlyValAspSerLeuLysThrArgTyrProAspLeuLeuProPheProGlnIleProAsnAspArgPheThrSerGluValAlaMetArgValMetGluCysThrAlaCysIleIleIleLysLeuGluAsnPheMetGlnGlnLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681389" } ], "type": "nucleotide" }