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"ENSP00000371735.3:p.Gln3698_Val4579delinsLeuLeuTrpThrSerCysProIleLeuProGluLysAlaThrProLeuSerIleLysGluGlnGluGlySerAspLeuGlyProGlnGluGlnLeuGluGlnValLeuAsnMetLeuAsnValAsnLeuAspProProLeuAspLysValIleAsnAsnCysArgAsnIleCysAsnIleThrThrLeuAspGluGluMetValLysThrArgAlaLysValLeuArgSerIleTyrGluPheLeuSerAlaGluLysArgGluPheArgPheGlnLeuArgGlyValAlaPheValMetValGluAspGlyTrpLysLeuLeuLysProGluGluValValIleAsnLeuGluTyrGluSerAspPheLysProTyrLeuTyrLysLeuProLeuGluLeuGlyThrPheHisGlnLeuPheLysHisLeuGlyThrGluAspIleIleSerThrLysGlnTyrValGluValLeuSerArgIlePheLysAsnSerGluGlyLysGlnLeuAspProAsnGluMetArgThrValLysArgValValSerGlyLeuPheArgSerLeuGlnAsnAspSerValLysValArgSerAspLeuGluAsnValArgAspLeuAlaLeuTyrLeuProSerGlnAspGlyArgLeuValLysSerSerIleLeuValPheAspAspAlaProHisTyrLysSerArgIleGlnGlyAsnIleGlyValGlnMetLeuValAspLeuSerGlnCysTyrLeuGlyLysAspHisGlyPheHisThrLysLeuIleMetLeuPheProGlnLysLeuArgProArgLeuLeuSerSerIleLeuGluGluGlnLeuAspGluGluThrProLysValCysGlnPheGlyAlaLeuCysSerLeuGlnGlyArgLeuGlnLeuLeuLeuSerSerGluGlnPheIleThrGlyLeuIleArgIleMetLysHisGluAsnAspAsnAlaPheLeuAlaAsnGluGluLysAlaIleArgLeuCysLysAlaLeuArgGluGlyLeuLysValSerCysPheGluLysLeuGlnThrThrLeuArgValLysGlyPheAsnProIleProHisSerArgSerGluThrPheAlaPheLeuLysArgPheGlyAsnAlaValIleLeuLeuTyrIleGlnHisSerAspSerLysAspIleAsnPheLeuLeuAlaLeuAlaMetThrLeuLysSerAlaThrAspAsnLeuIleSerAspThrSerTyrLeuIleAlaMetLeuGlyCysAsnAspIleTyrArgIleGlyGluLysLeuAspSerLeuGlyValLysTyrAspSerSerGluProSerLysLeuGluLeuProMetProGlyThrProIleProAlaGluIleHisTyrThrLeuLeuMetAspProMetAsnValPheTyrProGlyGluTyrValGlyTyrLeuValAspAlaGluGlyGlyAspIleTyrGlySerTyrGlnProThrTyrThrTyrAlaIleIleValGlnGluValGluArgGluAspAlaAspAsnSerSerPheLeuGlyLysIleTyrGlnIleAspIleGlyTyrSerGluTyrLysIleValSerSerLeuAspLeuTyrLysPheSerArgProGluGluSerSerGlnSerArgAspSerAlaProSerThrProThrSerProThrGluPheLeuThrProGlyLeuArgSerIleProProLeuPheSerGlyArgGluSerHisLysThrSerSerLysHisGlnSerProLysLysLeuLysValAsnSerLeuProGluIleLeuLysGluValThrSerValValGluGlnAlaTrpLysLeuProGluSerGluArgLysLysIleIleArgArgLeuTyrLeuLysTrpHisProAspLysAsnProGluAsnHisAspIleAlaAsnGluValPheLysHisLeuGlnAsnGluIleAsnArgLeuGluLysGlnAlaPheLeuAspGlnAsnAlaAspArgAlaSerArgArgThrPheSerThrSerAlaSerArgPheGlnSerAspLysTyrSerPheGlnArgPheTyrThrSerTrpAsnGlnGluAlaThrSerHisLysSerGluArgGlnGlnGlnAsnLysGluLysCysProProSerAlaGlyGlnThrTyrSerGlnArgPhePheValProProThrPheLysSerValGlyAsnProValGluAlaArgArgTrpLeuArgGlnAlaArgAlaAsnPheSerAlaAlaArgAsnAspLeuHisLysAsnAlaAsnGluTrpValCysPheLysCysTyrLeuSerThrLysLeuAlaLeuIleAlaAlaAspTyrAlaValArgGlyLysSerAspLysAspValLysProThrAlaLeuAlaGlnLysIleGluGluTyrSerGlnGlnLeuGluGlyLeuThrAsnAspValHisThrLeuGluAlaTyrGlyValAspSerLeuLysThrArgTyrProAspLeuLeuProPheProGlnIleProAsnAspArgPheThrSerGluValAlaMetArgValMetGluCysThrAlaCysIleIleIleLysLeuGluAsnPheMetGlnGlnLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS273698" }, { "coordinates": [ { "allele": "T", "end": 11176, "referenceAllele": "C", "start": 11175 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "ENST00000402364.1:c.8842C>T" ], "proteinEffect": { "hgvs": "ENSP00000385844.1:p.Gln2948Ter", "hgvsWellDefined": "ENSP00000385844.1:p.Gln2948_Val3829delinsLeuLeuTrpThrSerCysProIleLeuProGluLysAlaThrProLeuSerIleLysGluGlnGluGlySerAspLeuGlyProGlnGluGlnLeuGluGlnValLeuAsnMetLeuAsnValAsnLeuAspProProLeuAspLysValIleAsnAsnCysArgAsnIleCysAsnIleThrThrLeuAspGluGluMetValLysThrArgAlaLysValLeuArgSerIleTyrGluPheLeuSerAlaGluLysArgGluPheArgPheGlnLeuArgGlyValAlaPheValMetValGluAspGlyTrpLysLeuLeuLysProGluGluValValIleAsnLeuGluTyrGluSerAspPheLysProTyrLeuTyrLysLeuProLeuGluLeuGlyThrPheHisGlnLeuPheLysHisLeuGlyThrGluAspIleIleSerThrLysGlnTyrValGluValLeuSerArgIlePheLysAsnSerGluGlyLysGlnLeuAspProAsnGluMetArgThrValLysArgValValSerGlyLeuPheArgSerLeuGlnAsnAspSerValLysValArgSerAspLeuGluAsnValArgAspLeuAlaLeuTyrLeuProSerGlnAspGlyArgLeuValLysSerSerIleLeuValPheAspAspAlaProHisTyrLysSerArgIleGlnGlyAsnIleGlyValGlnMetLeuValAspLeuSerGlnCysTyrLeuGlyLysAspHisGlyPheHisThrLysLeuIleMetLeuPheProGlnLysLeuArgProArgLeuLeuSerSerIleLeuGluGluGlnLeuAspGluGluThrProLysValCysGlnPheGlyAlaLeuCysSerLeuGlnGlyArgLeuGlnLeuLeuLeuSerSerGluGlnPheIleThrGlyLeuIleArgIleMetLysHisGluAsnAspAsnAlaPheLeuAlaAsnGluGluLysAlaIleArgLeuCysLysAlaLeuArgGluGlyLeuLysValSerCysPheGluLysLeuGlnThrThrLeuArgValLysGlyPheAsnProIleProHisSerArgSerGluThrPheAlaPheLeuLysArgPheGlyAsnAlaValIleLeuLeuTyrIleGlnHisSerAspSerLysAspIleAsnPheLeuLeuAlaLeuAlaMetThrLeuLysSerAlaThrAspAsnLeuIleSerAspThrSerTyrLeuIleAlaMetLeuGlyCysAsnAspIleTyrArgIleGlyGluLysLeuAspSerLeuGlyValLysTyrAspSerSerGluProSerLysLeuGluLeuProMetProGlyThrProIleProAlaGluIleHisTyrThrLeuLeuMetAspProMetAsnValPheTyrProGlyGluTyrValGlyTyrLeuValAspAlaGluGlyGlyAspIleTyrGlySerTyrGlnProThrTyrThrTyrAlaIleIleValGlnGluValGluArgGluAspAlaAspAsnSerSerPheLeuGlyLysIleTyrGlnIleAspIleGlyTyrSerGluTyrLysIleValSerSerLeuAspLeuTyrLysPheSerArgProGluGluSerSerGlnSerArgAspSerAlaProSerThrProThrSerProThrGluPheLeuThrProGlyLeuArgSerIleProProLeuPheSerGlyArgGluSerHisLysThrSerSerLysHisGlnSerProLysLysLeuLysValAsnSerLeuProGluIleLeuLysGluValThrSerValValGluGlnAlaTrpLysLeuProGluSerGluArgLysLysIleIleArgArgLeuTyrLeuLysTrpHisProAspLysAsnProGluAsnHisAspIleAlaAsnGluValPheLysHisLeuGlnAsnGluIleAsnArgLeuGluLysGlnAlaPheLeuAspGlnAsnAlaAspArgAlaSerArgArgThrPheSerThrSerAlaSerArgPheGlnSerAspLysTyrSerPheGlnArgPheTyrThrSerTrpAsnGlnGluAlaThrSerHisLysSerGluArgGlnGlnGlnAsnLysGluLysCysProProSerAlaGlyGlnThrTyrSerGlnArgPhePheValProProThrPheLysSerValGlyAsnProValGluAlaArgArgTrpLeuArgGlnAlaArgAlaAsnPheSerAlaAlaArgAsnAspLeuHisLysAsnAlaAsnGluTrpValCysPheLysCysTyrLeuSerThrLysLeuAlaLeuIleAlaAlaAspTyrAlaValArgGlyLysSerAspLysAspValLysProThrAlaLeuAlaGlnLysIleGluGluTyrSerGlnGlnLeuGluGlyLeuThrAsnAspValHisThrLeuGluAlaTyrGlyValAspSerLeuLysThrArgTyrProAspLeuLeuProPheProGlnIleProAsnAspArgPheThrSerGluValAlaMetArgValMetGluCysThrAlaCysIleIleIleLysLeuGluAsnPheMetGlnGlnLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS279490" }, { "coordinates": [ { "allele": "T", "end": 1057, "endIntronDirection": "-", "endIntronOffset": 3299, "referenceAllele": "C", "start": 1057, "startIntronDirection": "-", "startIntronOffset": 3300 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "ENST00000423156.1:c.1058-3300C>T" ], "proteinEffect": { "hgvs": "ENSP00000390925.1:n.1058-3300C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS287621" }, { "coordinates": [ { "allele": "T", "end": 2129, "endIntronDirection": "-", "endIntronOffset": 3299, "referenceAllele": "C", "start": 2129, "startIntronDirection": "-", "startIntronOffset": 3300 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "ENST00000455470.5:c.2130-3300C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS303060" }, { "@id": "http://reg.genome.network/allele/PA2826578388", "coordinates": [ { "allele": "T", "end": 11176, "referenceAllele": "C", "start": 11175 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "NM_001278055.1:c.10651C>T" ], "proteinEffect": { "hgvs": "NP_001264984.1:p.Gln3551Ter", "hgvsWellDefined": "NP_001264984.1:p.Gln3551_Val4432delinsLeuLeuTrpThrSerCysProIleLeuProGluLysAlaThrProLeuSerIleLysGluGlnGluGlySerAspLeuGlyProGlnGluGlnLeuGluGlnValLeuAsnMetLeuAsnValAsnLeuAspProProLeuAspLysValIleAsnAsnCysArgAsnIleCysAsnIleThrThrLeuAspGluGluMetValLysThrArgAlaLysValLeuArgSerIleTyrGluPheLeuSerAlaGluLysArgGluPheArgPheGlnLeuArgGlyValAlaPheValMetValGluAspGlyTrpLysLeuLeuLysProGluGluValValIleAsnLeuGluTyrGluSerAspPheLysProTyrLeuTyrLysLeuProLeuGluLeuGlyThrPheHisGlnLeuPheLysHisLeuGlyThrGluAspIleIleSerThrLysGlnTyrValGluValLeuSerArgIlePheLysAsnSerGluGlyLysGlnLeuAspProAsnGluMetArgThrValLysArgValValSerGlyLeuPheArgSerLeuGlnAsnAspSerValLysValArgSerAspLeuGluAsnValArgAspLeuAlaLeuTyrLeuProSerGlnAspGlyArgLeuValLysSerSerIleLeuValPheAspAspAlaProHisTyrLysSerArgIleGlnGlyAsnIleGlyValGlnMetLeuValAspLeuSerGlnCysTyrLeuGlyLysAspHisGlyPheHisThrLysLeuIleMetLeuPheProGlnLysLeuArgProArgLeuLeuSerSerIleLeuGluGluGlnLeuAspGluGluThrProLysValCysGlnPheGlyAlaLeuCysSerLeuGlnGlyArgLeuGlnLeuLeuLeuSerSerGluGlnPheIleThrGlyLeuIleArgIleMetLysHisGluAsnAspAsnAlaPheLeuAlaAsnGluGluLysAlaIleArgLeuCysLysAlaLeuArgGluGlyLeuLysValSerCysPheGluLysLeuGlnThrThrLeuArgValLysGlyPheAsnProIleProHisSerArgSerGluThrPheAlaPheLeuLysArgPheGlyAsnAlaValIleLeuLeuTyrIleGlnHisSerAspSerLysAspIleAsnPheLeuLeuAlaLeuAlaMetThrLeuLysSerAlaThrAspAsnLeuIleSerAspThrSerTyrLeuIleAlaMetLeuGlyCysAsnAspIleTyrArgIleGlyGluLysLeuAspSerLeuGlyValLysTyrAspSerSerGluProSerLysLeuGluLeuProMetProGlyThrProIleProAlaGluIleHisTyrThrLeuLeuMetAspProMetAsnValPheTyrProGlyGluTyrValGlyTyrLeuValAspAlaGluGlyGlyAspIleTyrGlySerTyrGlnProThrTyrThrTyrAlaIleIleValGlnGluValGluArgGluAspAlaAspAsnSerSerPheLeuGlyLysIleTyrGlnIleAspIleGlyTyrSerGluTyrLysIleValSerSerLeuAspLeuTyrLysPheSerArgProGluGluSerSerGlnSerArgAspSerAlaProSerThrProThrSerProThrGluPheLeuThrProGlyLeuArgSerIleProProLeuPheSerGlyArgGluSerHisLysThrSerSerLysHisGlnSerProLysLysLeuLysValAsnSerLeuProGluIleLeuLysGluValThrSerValValGluGlnAlaTrpLysLeuProGluSerGluArgLysLysIleIleArgArgLeuTyrLeuLysTrpHisProAspLysAsnProGluAsnHisAspIleAlaAsnGluValPheLysHisLeuGlnAsnGluIleAsnArgLeuGluLysGlnAlaPheLeuAspGlnAsnAlaAspArgAlaSerArgArgThrPheSerThrSerAlaSerArgPheGlnSerAspLysTyrSerPheGlnArgPheTyrThrSerTrpAsnGlnGluAlaThrSerHisLysSerGluArgGlnGlnGlnAsnLysGluLysCysProProSerAlaGlyGlnThrTyrSerGlnArgPhePheValProProThrPheLysSerValGlyAsnProValGluAlaArgArgTrpLeuArgGlnAlaArgAlaAsnPheSerAlaAlaArgAsnAspLeuHisLysAsnAlaAsnGluTrpValCysPheLysCysTyrLeuSerThrLysLeuAlaLeuIleAlaAlaAspTyrAlaValArgGlyLysSerAspLysAspValLysProThrAlaLeuAlaGlnLysIleGluGluTyrSerGlnGlnLeuGluGlyLeuThrAsnAspValHisThrLeuGluAlaTyrGlyValAspSerLeuLysThrArgTyrProAspLeuLeuProPheProGlnIleProAsnAspArgPheThrSerGluValAlaMetArgValMetGluCysThrAlaCysIleIleIleLysLeuGluAsnPheMetGlnGlnLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS021054" }, { "@id": "http://reg.genome.network/allele/PA2580354910", "coordinates": [ { "allele": "T", "end": 11707, "referenceAllele": "C", "start": 11706 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "NM_014363.5:c.11092C>T" ], "proteinEffect": { "hgvs": "NP_055178.3:p.Gln3698Ter", "hgvsWellDefined": "NP_055178.3:p.Gln3698_Val4579delinsLeuLeuTrpThrSerCysProIleLeuProGluLysAlaThrProLeuSerIleLysGluGlnGluGlySerAspLeuGlyProGlnGluGlnLeuGluGlnValLeuAsnMetLeuAsnValAsnLeuAspProProLeuAspLysValIleAsnAsnCysArgAsnIleCysAsnIleThrThrLeuAspGluGluMetValLysThrArgAlaLysValLeuArgSerIleTyrGluPheLeuSerAlaGluLysArgGluPheArgPheGlnLeuArgGlyValAlaPheValMetValGluAspGlyTrpLysLeuLeuLysProGluGluValValIleAsnLeuGluTyrGluSerAspPheLysProTyrLeuTyrLysLeuProLeuGluLeuGlyThrPheHisGlnLeuPheLysHisLeuGlyThrGluAspIleIleSerThrLysGlnTyrValGluValLeuSerArgIlePheLysAsnSerGluGlyLysGlnLeuAspProAsnGluMetArgThrValLysArgValValSerGlyLeuPheArgSerLeuGlnAsnAspSerValLysValArgSerAspLeuGluAsnValArgAspLeuAlaLeuTyrLeuProSerGlnAspGlyArgLeuValLysSerSerIleLeuValPheAspAspAlaProHisTyrLysSerArgIleGlnGlyAsnIleGlyValGlnMetLeuValAspLeuSerGlnCysTyrLeuGlyLysAspHisGlyPheHisThrLysLeuIleMetLeuPheProGlnLysLeuArgProArgLeuLeuSerSerIleLeuGluGluGlnLeuAspGluGluThrProLysValCysGlnPheGlyAlaLeuCysSerLeuGlnGlyArgLeuGlnLeuLeuLeuSerSerGluGlnPheIleThrGlyLeuIleArgIleMetLysHisGluAsnAspAsnAlaPheLeuAlaAsnGluGluLysAlaIleArgLeuCysLysAlaLeuArgGluGlyLeuLysValSerCysPheGluLysLeuGlnThrThrLeuArgValLysGlyPheAsnProIleProHisSerArgSerGluThrPheAlaPheLeuLysArgPheGlyAsnAlaValIleLeuLeuTyrIleGlnHisSerAspSerLysAspIleAsnPheLeuLeuAlaLeuAlaMetThrLeuLysSerAlaThrAspAsnLeuIleSerAspThrSerTyrLeuIleAlaMetLeuGlyCysAsnAspIleTyrArgIleGlyGluLysLeuAspSerLeuGlyValLysTyrAspSerSerGluProSerLysLeuGluLeuProMetProGlyThrProIleProAlaGluIleHisTyrThrLeuLeuMetAspProMetAsnValPheTyrProGlyGluTyrValGlyTyrLeuValAspAlaGluGlyGlyAspIleTyrGlySerTyrGlnProThrTyrThrTyrAlaIleIleValGlnGluValGluArgGluAspAlaAspAsnSerSerPheLeuGlyLysIleTyrGlnIleAspIleGlyTyrSerGluTyrLysIleValSerSerLeuAspLeuTyrLysPheSerArgProGluGluSerSerGlnSerArgAspSerAlaProSerThrProThrSerProThrGluPheLeuThrProGlyLeuArgSerIleProProLeuPheSerGlyArgGluSerHisLysThrSerSerLysHisGlnSerProLysLysLeuLysValAsnSerLeuProGluIleLeuLysGluValThrSerValValGluGlnAlaTrpLysLeuProGluSerGluArgLysLysIleIleArgArgLeuTyrLeuLysTrpHisProAspLysAsnProGluAsnHisAspIleAlaAsnGluValPheLysHisLeuGlnAsnGluIleAsnArgLeuGluLysGlnAlaPheLeuAspGlnAsnAlaAspArgAlaSerArgArgThrPheSerThrSerAlaSerArgPheGlnSerAspLysTyrSerPheGlnArgPheTyrThrSerTrpAsnGlnGluAlaThrSerHisLysSerGluArgGlnGlnGlnAsnLysGluLysCysProProSerAlaGlyGlnThrTyrSerGlnArgPhePheValProProThrPheLysSerValGlyAsnProValGluAlaArgArgTrpLeuArgGlnAlaArgAlaAsnPheSerAlaAlaArgAsnAspLeuHisLysAsnAlaAsnGluTrpValCysPheLysCysTyrLeuSerThrLysLeuAlaLeuIleAlaAlaAspTyrAlaValArgGlyLysSerAspLysAspValLysProThrAlaLeuAlaGlnLysIleGluGluTyrSerGlnGlnLeuGluGlyLeuThrAsnAspValHisThrLeuGluAlaTyrGlyValAspSerLeuLysThrArgTyrProAspLeuLeuProPheProGlnIleProAsnAspArgPheThrSerGluValAlaMetArgValMetGluCysThrAlaCysIleIleIleLysLeuGluAsnPheMetGlnGlnLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033115" }, { "coordinates": [ { "allele": "T", "end": 11734, "referenceAllele": "C", "start": 11733 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "XM_005266338.1:c.11119C>T" ], "proteinEffect": { "hgvs": "XP_005266395.1:p.Gln3707Ter", "hgvsWellDefined": "XP_005266395.1:p.Gln3707_Val4588delinsLeuLeuTrpThrSerCysProIleLeuProGluLysAlaThrProLeuSerIleLysGluGlnGluGlySerAspLeuGlyProGlnGluGlnLeuGluGlnValLeuAsnMetLeuAsnValAsnLeuAspProProLeuAspLysValIleAsnAsnCysArgAsnIleCysAsnIleThrThrLeuAspGluGluMetValLysThrArgAlaLysValLeuArgSerIleTyrGluPheLeuSerAlaGluLysArgGluPheArgPheGlnLeuArgGlyValAlaPheValMetValGluAspGlyTrpLysLeuLeuLysProGluGluValValIleAsnLeuGluTyrGluSerAspPheLysProTyrLeuTyrLysLeuProLeuGluLeuGlyThrPheHisGlnLeuPheLysHisLeuGlyThrGluAspIleIleSerThrLysGlnTyrValGluValLeuSerArgIlePheLysAsnSerGluGlyLysGlnLeuAspProAsnGluMetArgThrValLysArgValValSerGlyLeuPheArgSerLeuGlnAsnAspSerValLysValArgSerAspLeuGluAsnValArgAspLeuAlaLeuTyrLeuProSerGlnAspGlyArgLeuValLysSerSerIleLeuValPheAspAspAlaProHisTyrLysSerArgIleGlnGlyAsnIleGlyValGlnMetLeuValAspLeuSerGlnCysTyrLeuGlyLysAspHisGlyPheHisThrLysLeuIleMetLeuPheProGlnLysLeuArgProArgLeuLeuSerSerIleLeuGluGluGlnLeuAspGluGluThrProLysValCysGlnPheGlyAlaLeuCysSerLeuGlnGlyArgLeuGlnLeuLeuLeuSerSerGluGlnPheIleThrGlyLeuIleArgIleMetLysHisGluAsnAspAsnAlaPheLeuAlaAsnGluGluLysAlaIleArgLeuCysLysAlaLeuArgGluGlyLeuLysValSerCysPheGluLysLeuGlnThrThrLeuArgValLysGlyPheAsnProIleProHisSerArgSerGluThrPheAlaPheLeuLysArgPheGlyAsnAlaValIleLeuLeuTyrIleGlnHisSerAspSerLysAspIleAsnPheLeuLeuAlaLeuAlaMetThrLeuLysSerAlaThrAspAsnLeuIleSerAspThrSerTyrLeuIleAlaMetLeuGlyCysAsnAspIleTyrArgIleGlyGluLysLeuAspSerLeuGlyValLysTyrAspSerSerGluProSerLysLeuGluLeuProMetProGlyThrProIleProAlaGluIleHisTyrThrLeuLeuMetAspProMetAsnValPheTyrProGlyGluTyrValGlyTyrLeuValAspAlaGluGlyGlyAspIleTyrGlySerTyrGlnProThrTyrThrTyrAlaIleIleValGlnGluValGluArgGluAspAlaAspAsnSerSerPheLeuGlyLysIleTyrGlnIleAspIleGlyTyrSerGluTyrLysIleValSerSerLeuAspLeuTyrLysPheSerArgProGluGluSerSerGlnSerArgAspSerAlaProSerThrProThrSerProThrGluPheLeuThrProGlyLeuArgSerIleProProLeuPheSerGlyArgGluSerHisLysThrSerSerLysHisGlnSerProLysLysLeuLysValAsnSerLeuProGluIleLeuLysGluValThrSerValValGluGlnAlaTrpLysLeuProGluSerGluArgLysLysIleIleArgArgLeuTyrLeuLysTrpHisProAspLysAsnProGluAsnHisAspIleAlaAsnGluValPheLysHisLeuGlnAsnGluIleAsnArgLeuGluLysGlnAlaPheLeuAspGlnAsnAlaAspArgAlaSerArgArgThrPheSerThrSerAlaSerArgPheGlnSerAspLysTyrSerPheGlnArgPheTyrThrSerTrpAsnGlnGluAlaThrSerHisLysSerGluArgGlnGlnGlnAsnLysGluLysCysProProSerAlaGlyGlnThrTyrSerGlnArgPhePheValProProThrPheLysSerValGlyAsnProValGluAlaArgArgTrpLeuArgGlnAlaArgAlaAsnPheSerAlaAlaArgAsnAspLeuHisLysAsnAlaAsnGluTrpValCysPheLysCysTyrLeuSerThrLysLeuAlaLeuIleAlaAlaAspTyrAlaValArgGlyLysSerAspLysAspValLysProThrAlaLeuAlaGlnLysIleGluGluTyrSerGlnGlnLeuGluGlyLeuThrAsnAspValHisThrLeuGluAlaTyrGlyValAspSerLeuLysThrArgTyrProAspLeuLeuProPheProGlnIleProAsnAspArgPheThrSerGluValAlaMetArgValMetGluCysThrAlaCysIleIleIleLysLeuGluAsnPheMetGlnGlnLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065016" }, { "coordinates": [ { "allele": "T", "end": 11161, "referenceAllele": "C", "start": 11160 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "XM_011535038.1:c.11143C>T" ], "proteinEffect": { "hgvs": "XP_011533340.1:p.Gln3715Ter", "hgvsWellDefined": "XP_011533340.1:p.Gln3715_Val4596delinsLeuLeuTrpThrSerCysProIleLeuProGluLysAlaThrProLeuSerIleLysGluGlnGluGlySerAspLeuGlyProGlnGluGlnLeuGluGlnValLeuAsnMetLeuAsnValAsnLeuAspProProLeuAspLysValIleAsnAsnCysArgAsnIleCysAsnIleThrThrLeuAspGluGluMetValLysThrArgAlaLysValLeuArgSerIleTyrGluPheLeuSerAlaGluLysArgGluPheArgPheGlnLeuArgGlyValAlaPheValMetValGluAspGlyTrpLysLeuLeuLysProGluGluValValIleAsnLeuGluTyrGluSerAspPheLysProTyrLeuTyrLysLeuProLeuGluLeuGlyThrPheHisGlnLeuPheLysHisLeuGlyThrGluAspIleIleSerThrLysGlnTyrValGluValLeuSerArgIlePheLysAsnSerGluGlyLysGlnLeuAspProAsnGluMetArgThrValLysArgValValSerGlyLeuPheArgSerLeuGlnAsnAspSerValLysValArgSerAspLeuGluAsnValArgAspLeuAlaLeuTyrLeuProSerGlnAspGlyArgLeuValLysSerSerIleLeuValPheAspAspAlaProHisTyrLysSerArgIleGlnGlyAsnIleGlyValGlnMetLeuValAspLeuSerGlnCysTyrLeuGlyLysAspHisGlyPheHisThrLysLeuIleMetLeuPheProGlnLysLeuArgProArgLeuLeuSerSerIleLeuGluGluGlnLeuAspGluGluThrProLysValCysGlnPheGlyAlaLeuCysSerLeuGlnGlyArgLeuGlnLeuLeuLeuSerSerGluGlnPheIleThrGlyLeuIleArgIleMetLysHisGluAsnAspAsnAlaPheLeuAlaAsnGluGluLysAlaIleArgLeuCysLysAlaLeuArgGluGlyLeuLysValSerCysPheGluLysLeuGlnThrThrLeuArgValLysGlyPheAsnProIleProHisSerArgSerGluThrPheAlaPheLeuLysArgPheGlyAsnAlaValIleLeuLeuTyrIleGlnHisSerAspSerLysAspIleAsnPheLeuLeuAlaLeuAlaMetThrLeuLysSerAlaThrAspAsnLeuIleSerAspThrSerTyrLeuIleAlaMetLeuGlyCysAsnAspIleTyrArgIleGlyGluLysLeuAspSerLeuGlyValLysTyrAspSerSerGluProSerLysLeuGluLeuProMetProGlyThrProIleProAlaGluIleHisTyrThrLeuLeuMetAspProMetAsnValPheTyrProGlyGluTyrValGlyTyrLeuValAspAlaGluGlyGlyAspIleTyrGlySerTyrGlnProThrTyrThrTyrAlaIleIleValGlnGluValGluArgGluAspAlaAspAsnSerSerPheLeuGlyLysIleTyrGlnIleAspIleGlyTyrSerGluTyrLysIleValSerSerLeuAspLeuTyrLysPheSerArgProGluGluSerSerGlnSerArgAspSerAlaProSerThrProThrSerProThrGluPheLeuThrProGlyLeuArgSerIleProProLeuPheSerGlyArgGluSerHisLysThrSerSerLysHisGlnSerProLysLysLeuLysValAsnSerLeuProGluIleLeuLysGluValThrSerValValGluGlnAlaTrpLysLeuProGluSerGluArgLysLysIleIleArgArgLeuTyrLeuLysTrpHisProAspLysAsnProGluAsnHisAspIleAlaAsnGluValPheLysHisLeuGlnAsnGluIleAsnArgLeuGluLysGlnAlaPheLeuAspGlnAsnAlaAspArgAlaSerArgArgThrPheSerThrSerAlaSerArgPheGlnSerAspLysTyrSerPheGlnArgPheTyrThrSerTrpAsnGlnGluAlaThrSerHisLysSerGluArgGlnGlnGlnAsnLysGluLysCysProProSerAlaGlyGlnThrTyrSerGlnArgPhePheValProProThrPheLysSerValGlyAsnProValGluAlaArgArgTrpLeuArgGlnAlaArgAlaAsnPheSerAlaAlaArgAsnAspLeuHisLysAsnAlaAsnGluTrpValCysPheLysCysTyrLeuSerThrLysLeuAlaLeuIleAlaAlaAspTyrAlaValArgGlyLysSerAspLysAspValLysProThrAlaLeuAlaGlnLysIleGluGluTyrSerGlnGlnLeuGluGlyLeuThrAsnAspValHisThrLeuGluAlaTyrGlyValAspSerLeuLysThrArgTyrProAspLeuLeuProPheProGlnIleProAsnAspArgPheThrSerGluValAlaMetArgValMetGluCysThrAlaCysIleIleIleLysLeuGluAsnPheMetGlnGlnLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102048" }, { "coordinates": [ { "allele": "T", "end": 11231, "referenceAllele": "C", "start": 11230 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "XM_011535039.1:c.11110C>T" ], "proteinEffect": { "hgvs": "XP_011533341.1:p.Gln3704Ter", "hgvsWellDefined": "XP_011533341.1:p.Gln3704_Val4585delinsLeuLeuTrpThrSerCysProIleLeuProGluLysAlaThrProLeuSerIleLysGluGlnGluGlySerAspLeuGlyProGlnGluGlnLeuGluGlnValLeuAsnMetLeuAsnValAsnLeuAspProProLeuAspLysValIleAsnAsnCysArgAsnIleCysAsnIleThrThrLeuAspGluGluMetValLysThrArgAlaLysValLeuArgSerIleTyrGluPheLeuSerAlaGluLysArgGluPheArgPheGlnLeuArgGlyValAlaPheValMetValGluAspGlyTrpLysLeuLeuLysProGluGluValValIleAsnLeuGluTyrGluSerAspPheLysProTyrLeuTyrLysLeuProLeuGluLeuGlyThrPheHisGlnLeuPheLysHisLeuGlyThrGluAspIleIleSerThrLysGlnTyrValGluValLeuSerArgIlePheLysAsnSerGluGlyLysGlnLeuAspProAsnGluMetArgThrValLysArgValValSerGlyLeuPheArgSerLeuGlnAsnAspSerValLysValArgSerAspLeuGluAsnValArgAspLeuAlaLeuTyrLeuProSerGlnAspGlyArgLeuValLysSerSerIleLeuValPheAspAspAlaProHisTyrLysSerArgIleGlnGlyAsnIleGlyValGlnMetLeuValAspLeuSerGlnCysTyrLeuGlyLysAspHisGlyPheHisThrLysLeuIleMetLeuPheProGlnLysLeuArgProArgLeuLeuSerSerIleLeuGluGluGlnLeuAspGluGluThrProLysValCysGlnPheGlyAlaLeuCysSerLeuGlnGlyArgLeuGlnLeuLeuLeuSerSerGluGlnPheIleThrGlyLeuIleArgIleMetLysHisGluAsnAspAsnAlaPheLeuAlaAsnGluGluLysAlaIleArgLeuCysLysAlaLeuArgGluGlyLeuLysValSerCysPheGluLysLeuGlnThrThrLeuArgValLysGlyPheAsnProIleProHisSerArgSerGluThrPheAlaPheLeuLysArgPheGlyAsnAlaValIleLeuLeuTyrIleGlnHisSerAspSerLysAspIleAsnPheLeuLeuAlaLeuAlaMetThrLeuLysSerAlaThrAspAsnLeuIleSerAspThrSerTyrLeuIleAlaMetLeuGlyCysAsnAspIleTyrArgIleGlyGluLysLeuAspSerLeuGlyValLysTyrAspSerSerGluProSerLysLeuGluLeuProMetProGlyThrProIleProAlaGluIleHisTyrThrLeuLeuMetAspProMetAsnValPheTyrProGlyGluTyrValGlyTyrLeuValAspAlaGluGlyGlyAspIleTyrGlySerTyrGlnProThrTyrThrTyrAlaIleIleValGlnGluValGluArgGluAspAlaAspAsnSerSerPheLeuGlyLysIleTyrGlnIleAspIleGlyTyrSerGluTyrLysIleValSerSerLeuAspLeuTyrLysPheSerArgProGluGluSerSerGlnSerArgAspSerAlaProSerThrProThrSerProThrGluPheLeuThrProGlyLeuArgSerIleProProLeuPheSerGlyArgGluSerHisLysThrSerSerLysHisGlnSerProLysLysLeuLysValAsnSerLeuProGluIleLeuLysGluValThrSerValValGluGlnAlaTrpLysLeuProGluSerGluArgLysLysIleIleArgArgLeuTyrLeuLysTrpHisProAspLysAsnProGluAsnHisAspIleAlaAsnGluValPheLysHisLeuGlnAsnGluIleAsnArgLeuGluLysGlnAlaPheLeuAspGlnAsnAlaAspArgAlaSerArgArgThrPheSerThrSerAlaSerArgPheGlnSerAspLysTyrSerPheGlnArgPheTyrThrSerTrpAsnGlnGluAlaThrSerHisLysSerGluArgGlnGlnGlnAsnLysGluLysCysProProSerAlaGlyGlnThrTyrSerGlnArgPhePheValProProThrPheLysSerValGlyAsnProValGluAlaArgArgTrpLeuArgGlnAlaArgAlaAsnPheSerAlaAlaArgAsnAspLeuHisLysAsnAlaAsnGluTrpValCysPheLysCysTyrLeuSerThrLysLeuAlaLeuIleAlaAlaAspTyrAlaValArgGlyLysSerAspLysAspValLysProThrAlaLeuAlaGlnLysIleGluGluTyrSerGlnGlnLeuGluGlyLeuThrAsnAspValHisThrLeuGluAlaTyrGlyValAspSerLeuLysThrArgTyrProAspLeuLeuProPheProGlnIleProAsnAspArgPheThrSerGluValAlaMetArgValMetGluCysThrAlaCysIleIleIleLysLeuGluAsnPheMetGlnGlnLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102049" }, { "coordinates": [ { "allele": "T", "end": 11734, "referenceAllele": "C", "start": 11733 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "XM_005266338.2:c.11119C>T" ], "proteinEffect": { "hgvs": "XP_005266395.1:p.Gln3707Ter", "hgvsWellDefined": "XP_005266395.1:p.Gln3707_Val4588delinsLeuLeuTrpThrSerCysProIleLeuProGluLysAlaThrProLeuSerIleLysGluGlnGluGlySerAspLeuGlyProGlnGluGlnLeuGluGlnValLeuAsnMetLeuAsnValAsnLeuAspProProLeuAspLysValIleAsnAsnCysArgAsnIleCysAsnIleThrThrLeuAspGluGluMetValLysThrArgAlaLysValLeuArgSerIleTyrGluPheLeuSerAlaGluLysArgGluPheArgPheGlnLeuArgGlyValAlaPheValMetValGluAspGlyTrpLysLeuLeuLysProGluGluValValIleAsnLeuGluTyrGluSerAspPheLysProTyrLeuTyrLysLeuProLeuGluLeuGlyThrPheHisGlnLeuPheLysHisLeuGlyThrGluAspIleIleSerThrLysGlnTyrValGluValLeuSerArgIlePheLysAsnSerGluGlyLysGlnLeuAspProAsnGluMetArgThrValLysArgValValSerGlyLeuPheArgSerLeuGlnAsnAspSerValLysValArgSerAspLeuGluAsnValArgAspLeuAlaLeuTyrLeuProSerGlnAspGlyArgLeuValLysSerSerIleLeuValPheAspAspAlaProHisTyrLysSerArgIleGlnGlyAsnIleGlyValGlnMetLeuValAspLeuSerGlnCysTyrLeuGlyLysAspHisGlyPheHisThrLysLeuIleMetLeuPheProGlnLysLeuArgProArgLeuLeuSerSerIleLeuGluGluGlnLeuAspGluGluThrProLysValCysGlnPheGlyAlaLeuCysSerLeuGlnGlyArgLeuGlnLeuLeuLeuSerSerGluGlnPheIleThrGlyLeuIleArgIleMetLysHisGluAsnAspAsnAlaPheLeuAlaAsnGluGluLysAlaIleArgLeuCysLysAlaLeuArgGluGlyLeuLysValSerCysPheGluLysLeuGlnThrThrLeuArgValLysGlyPheAsnProIleProHisSerArgSerGluThrPheAlaPheLeuLysArgPheGlyAsnAlaValIleLeuLeuTyrIleGlnHisSerAspSerLysAspIleAsnPheLeuLeuAlaLeuAlaMetThrLeuLysSerAlaThrAspAsnLeuIleSerAspThrSerTyrLeuIleAlaMetLeuGlyCysAsnAspIleTyrArgIleGlyGluLysLeuAspSerLeuGlyValLysTyrAspSerSerGluProSerLysLeuGluLeuProMetProGlyThrProIleProAlaGluIleHisTyrThrLeuLeuMetAspProMetAsnValPheTyrProGlyGluTyrValGlyTyrLeuValAspAlaGluGlyGlyAspIleTyrGlySerTyrGlnProThrTyrThrTyrAlaIleIleValGlnGluValGluArgGluAspAlaAspAsnSerSerPheLeuGlyLysIleTyrGlnIleAspIleGlyTyrSerGluTyrLysIleValSerSerLeuAspLeuTyrLysPheSerArgProGluGluSerSerGlnSerArgAspSerAlaProSerThrProThrSerProThrGluPheLeuThrProGlyLeuArgSerIleProProLeuPheSerGlyArgGluSerHisLysThrSerSerLysHisGlnSerProLysLysLeuLysValAsnSerLeuProGluIleLeuLysGluValThrSerValValGluGlnAlaTrpLysLeuProGluSerGluArgLysLysIleIleArgArgLeuTyrLeuLysTrpHisProAspLysAsnProGluAsnHisAspIleAlaAsnGluValPheLysHisLeuGlnAsnGluIleAsnArgLeuGluLysGlnAlaPheLeuAspGlnAsnAlaAspArgAlaSerArgArgThrPheSerThrSerAlaSerArgPheGlnSerAspLysTyrSerPheGlnArgPheTyrThrSerTrpAsnGlnGluAlaThrSerHisLysSerGluArgGlnGlnGlnAsnLysGluLysCysProProSerAlaGlyGlnThrTyrSerGlnArgPhePheValProProThrPheLysSerValGlyAsnProValGluAlaArgArgTrpLeuArgGlnAlaArgAlaAsnPheSerAlaAlaArgAsnAspLeuHisLysAsnAlaAsnGluTrpValCysPheLysCysTyrLeuSerThrLysLeuAlaLeuIleAlaAlaAspTyrAlaValArgGlyLysSerAspLysAspValLysProThrAlaLeuAlaGlnLysIleGluGluTyrSerGlnGlnLeuGluGlyLeuThrAsnAspValHisThrLeuGluAlaTyrGlyValAspSerLeuLysThrArgTyrProAspLeuLeuProPheProGlnIleProAsnAspArgPheThrSerGluValAlaMetArgValMetGluCysThrAlaCysIleIleIleLysLeuGluAsnPheMetGlnGlnLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536218" }, { "coordinates": [ { "allele": "T", "end": 11342, "referenceAllele": "C", "start": 11341 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "XM_011535039.2:c.11110C>T" ], "proteinEffect": { "hgvs": "XP_011533341.1:p.Gln3704Ter", "hgvsWellDefined": "XP_011533341.1:p.Gln3704_Val4585delinsLeuLeuTrpThrSerCysProIleLeuProGluLysAlaThrProLeuSerIleLysGluGlnGluGlySerAspLeuGlyProGlnGluGlnLeuGluGlnValLeuAsnMetLeuAsnValAsnLeuAspProProLeuAspLysValIleAsnAsnCysArgAsnIleCysAsnIleThrThrLeuAspGluGluMetValLysThrArgAlaLysValLeuArgSerIleTyrGluPheLeuSerAlaGluLysArgGluPheArgPheGlnLeuArgGlyValAlaPheValMetValGluAspGlyTrpLysLeuLeuLysProGluGluValValIleAsnLeuGluTyrGluSerAspPheLysProTyrLeuTyrLysLeuProLeuGluLeuGlyThrPheHisGlnLeuPheLysHisLeuGlyThrGluAspIleIleSerThrLysGlnTyrValGluValLeuSerArgIlePheLysAsnSerGluGlyLysGlnLeuAspProAsnGluMetArgThrValLysArgValValSerGlyLeuPheArgSerLeuGlnAsnAspSerValLysValArgSerAspLeuGluAsnValArgAspLeuAlaLeuTyrLeuProSerGlnAspGlyArgLeuValLysSerSerIleLeuValPheAspAspAlaProHisTyrLysSerArgIleGlnGlyAsnIleGlyValGlnMetLeuValAspLeuSerGlnCysTyrLeuGlyLysAspHisGlyPheHisThrLysLeuIleMetLeuPheProGlnLysLeuArgProArgLeuLeuSerSerIleLeuGluGluGlnLeuAspGluGluThrProLysValCysGlnPheGlyAlaLeuCysSerLeuGlnGlyArgLeuGlnLeuLeuLeuSerSerGluGlnPheIleThrGlyLeuIleArgIleMetLysHisGluAsnAspAsnAlaPheLeuAlaAsnGluGluLysAlaIleArgLeuCysLysAlaLeuArgGluGlyLeuLysValSerCysPheGluLysLeuGlnThrThrLeuArgValLysGlyPheAsnProIleProHisSerArgSerGluThrPheAlaPheLeuLysArgPheGlyAsnAlaValIleLeuLeuTyrIleGlnHisSerAspSerLysAspIleAsnPheLeuLeuAlaLeuAlaMetThrLeuLysSerAlaThrAspAsnLeuIleSerAspThrSerTyrLeuIleAlaMetLeuGlyCysAsnAspIleTyrArgIleGlyGluLysLeuAspSerLeuGlyValLysTyrAspSerSerGluProSerLysLeuGluLeuProMetProGlyThrProIleProAlaGluIleHisTyrThrLeuLeuMetAspProMetAsnValPheTyrProGlyGluTyrValGlyTyrLeuValAspAlaGluGlyGlyAspIleTyrGlySerTyrGlnProThrTyrThrTyrAlaIleIleValGlnGluValGluArgGluAspAlaAspAsnSerSerPheLeuGlyLysIleTyrGlnIleAspIleGlyTyrSerGluTyrLysIleValSerSerLeuAspLeuTyrLysPheSerArgProGluGluSerSerGlnSerArgAspSerAlaProSerThrProThrSerProThrGluPheLeuThrProGlyLeuArgSerIleProProLeuPheSerGlyArgGluSerHisLysThrSerSerLysHisGlnSerProLysLysLeuLysValAsnSerLeuProGluIleLeuLysGluValThrSerValValGluGlnAlaTrpLysLeuProGluSerGluArgLysLysIleIleArgArgLeuTyrLeuLysTrpHisProAspLysAsnProGluAsnHisAspIleAlaAsnGluValPheLysHisLeuGlnAsnGluIleAsnArgLeuGluLysGlnAlaPheLeuAspGlnAsnAlaAspArgAlaSerArgArgThrPheSerThrSerAlaSerArgPheGlnSerAspLysTyrSerPheGlnArgPheTyrThrSerTrpAsnGlnGluAlaThrSerHisLysSerGluArgGlnGlnGlnAsnLysGluLysCysProProSerAlaGlyGlnThrTyrSerGlnArgPhePheValProProThrPheLysSerValGlyAsnProValGluAlaArgArgTrpLeuArgGlnAlaArgAlaAsnPheSerAlaAlaArgAsnAspLeuHisLysAsnAlaAsnGluTrpValCysPheLysCysTyrLeuSerThrLysLeuAlaLeuIleAlaAlaAspTyrAlaValArgGlyLysSerAspLysAspValLysProThrAlaLeuAlaGlnLysIleGluGluTyrSerGlnGlnLeuGluGlyLeuThrAsnAspValHisThrLeuGluAlaTyrGlyValAspSerLeuLysThrArgTyrProAspLeuLeuProPheProGlnIleProAsnAspArgPheThrSerGluValAlaMetArgValMetGluCysThrAlaCysIleIleIleLysLeuGluAsnPheMetGlnGlnLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS551886" }, { "coordinates": [ { "allele": "T", "end": 11315, "referenceAllele": "C", "start": 11314 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "XM_017020539.1:c.11083C>T" ], "proteinEffect": { "hgvs": "XP_016876028.1:p.Gln3695Ter", "hgvsWellDefined": "XP_016876028.1:p.Gln3695_Val4576delinsLeuLeuTrpThrSerCysProIleLeuProGluLysAlaThrProLeuSerIleLysGluGlnGluGlySerAspLeuGlyProGlnGluGlnLeuGluGlnValLeuAsnMetLeuAsnValAsnLeuAspProProLeuAspLysValIleAsnAsnCysArgAsnIleCysAsnIleThrThrLeuAspGluGluMetValLysThrArgAlaLysValLeuArgSerIleTyrGluPheLeuSerAlaGluLysArgGluPheArgPheGlnLeuArgGlyValAlaPheValMetValGluAspGlyTrpLysLeuLeuLysProGluGluValValIleAsnLeuGluTyrGluSerAspPheLysProTyrLeuTyrLysLeuProLeuGluLeuGlyThrPheHisGlnLeuPheLysHisLeuGlyThrGluAspIleIleSerThrLysGlnTyrValGluValLeuSerArgIlePheLysAsnSerGluGlyLysGlnLeuAspProAsnGluMetArgThrValLysArgValValSerGlyLeuPheArgSerLeuGlnAsnAspSerValLysValArgSerAspLeuGluAsnValArgAspLeuAlaLeuTyrLeuProSerGlnAspGlyArgLeuValLysSerSerIleLeuValPheAspAspAlaProHisTyrLysSerArgIleGlnGlyAsnIleGlyValGlnMetLeuValAspLeuSerGlnCysTyrLeuGlyLysAspHisGlyPheHisThrLysLeuIleMetLeuPheProGlnLysLeuArgProArgLeuLeuSerSerIleLeuGluGluGlnLeuAspGluGluThrProLysValCysGlnPheGlyAlaLeuCysSerLeuGlnGlyArgLeuGlnLeuLeuLeuSerSerGluGlnPheIleThrGlyLeuIleArgIleMetLysHisGluAsnAspAsnAlaPheLeuAlaAsnGluGluLysAlaIleArgLeuCysLysAlaLeuArgGluGlyLeuLysValSerCysPheGluLysLeuGlnThrThrLeuArgValLysGlyPheAsnProIleProHisSerArgSerGluThrPheAlaPheLeuLysArgPheGlyAsnAlaValIleLeuLeuTyrIleGlnHisSerAspSerLysAspIleAsnPheLeuLeuAlaLeuAlaMetThrLeuLysSerAlaThrAspAsnLeuIleSerAspThrSerTyrLeuIleAlaMetLeuGlyCysAsnAspIleTyrArgIleGlyGluLysLeuAspSerLeuGlyValLysTyrAspSerSerGluProSerLysLeuGluLeuProMetProGlyThrProIleProAlaGluIleHisTyrThrLeuLeuMetAspProMetAsnValPheTyrProGlyGluTyrValGlyTyrLeuValAspAlaGluGlyGlyAspIleTyrGlySerTyrGlnProThrTyrThrTyrAlaIleIleValGlnGluValGluArgGluAspAlaAspAsnSerSerPheLeuGlyLysIleTyrGlnIleAspIleGlyTyrSerGluTyrLysIleValSerSerLeuAspLeuTyrLysPheSerArgProGluGluSerSerGlnSerArgAspSerAlaProSerThrProThrSerProThrGluPheLeuThrProGlyLeuArgSerIleProProLeuPheSerGlyArgGluSerHisLysThrSerSerLysHisGlnSerProLysLysLeuLysValAsnSerLeuProGluIleLeuLysGluValThrSerValValGluGlnAlaTrpLysLeuProGluSerGluArgLysLysIleIleArgArgLeuTyrLeuLysTrpHisProAspLysAsnProGluAsnHisAspIleAlaAsnGluValPheLysHisLeuGlnAsnGluIleAsnArgLeuGluLysGlnAlaPheLeuAspGlnAsnAlaAspArgAlaSerArgArgThrPheSerThrSerAlaSerArgPheGlnSerAspLysTyrSerPheGlnArgPheTyrThrSerTrpAsnGlnGluAlaThrSerHisLysSerGluArgGlnGlnGlnAsnLysGluLysCysProProSerAlaGlyGlnThrTyrSerGlnArgPhePheValProProThrPheLysSerValGlyAsnProValGluAlaArgArgTrpLeuArgGlnAlaArgAlaAsnPheSerAlaAlaArgAsnAspLeuHisLysAsnAlaAsnGluTrpValCysPheLysCysTyrLeuSerThrLysLeuAlaLeuIleAlaAlaAspTyrAlaValArgGlyLysSerAspLysAspValLysProThrAlaLeuAlaGlnLysIleGluGluTyrSerGlnGlnLeuGluGlyLeuThrAsnAspValHisThrLeuGluAlaTyrGlyValAspSerLeuLysThrArgTyrProAspLeuLeuProPheProGlnIleProAsnAspArgPheThrSerGluValAlaMetArgValMetGluCysThrAlaCysIleIleIleLysLeuGluAsnPheMetGlnGlnLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572005" }, { "coordinates": [ { "allele": "T", "end": 11758, "referenceAllele": "C", "start": 11757 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "XM_024449337.1:c.11119C>T" ], "proteinEffect": { "hgvs": "XP_024305105.1:p.Gln3707Ter", "hgvsWellDefined": "XP_024305105.1:p.Gln3707_Val4588delinsLeuLeuTrpThrSerCysProIleLeuProGluLysAlaThrProLeuSerIleLysGluGlnGluGlySerAspLeuGlyProGlnGluGlnLeuGluGlnValLeuAsnMetLeuAsnValAsnLeuAspProProLeuAspLysValIleAsnAsnCysArgAsnIleCysAsnIleThrThrLeuAspGluGluMetValLysThrArgAlaLysValLeuArgSerIleTyrGluPheLeuSerAlaGluLysArgGluPheArgPheGlnLeuArgGlyValAlaPheValMetValGluAspGlyTrpLysLeuLeuLysProGluGluValValIleAsnLeuGluTyrGluSerAspPheLysProTyrLeuTyrLysLeuProLeuGluLeuGlyThrPheHisGlnLeuPheLysHisLeuGlyThrGluAspIleIleSerThrLysGlnTyrValGluValLeuSerArgIlePheLysAsnSerGluGlyLysGlnLeuAspProAsnGluMetArgThrValLysArgValValSerGlyLeuPheArgSerLeuGlnAsnAspSerValLysValArgSerAspLeuGluAsnValArgAspLeuAlaLeuTyrLeuProSerGlnAspGlyArgLeuValLysSerSerIleLeuValPheAspAspAlaProHisTyrLysSerArgIleGlnGlyAsnIleGlyValGlnMetLeuValAspLeuSerGlnCysTyrLeuGlyLysAspHisGlyPheHisThrLysLeuIleMetLeuPheProGlnLysLeuArgProArgLeuLeuSerSerIleLeuGluGluGlnLeuAspGluGluThrProLysValCysGlnPheGlyAlaLeuCysSerLeuGlnGlyArgLeuGlnLeuLeuLeuSerSerGluGlnPheIleThrGlyLeuIleArgIleMetLysHisGluAsnAspAsnAlaPheLeuAlaAsnGluGluLysAlaIleArgLeuCysLysAlaLeuArgGluGlyLeuLysValSerCysPheGluLysLeuGlnThrThrLeuArgValLysGlyPheAsnProIleProHisSerArgSerGluThrPheAlaPheLeuLysArgPheGlyAsnAlaValIleLeuLeuTyrIleGlnHisSerAspSerLysAspIleAsnPheLeuLeuAlaLeuAlaMetThrLeuLysSerAlaThrAspAsnLeuIleSerAspThrSerTyrLeuIleAlaMetLeuGlyCysAsnAspIleTyrArgIleGlyGluLysLeuAspSerLeuGlyValLysTyrAspSerSerGluProSerLysLeuGluLeuProMetProGlyThrProIleProAlaGluIleHisTyrThrLeuLeuMetAspProMetAsnValPheTyrProGlyGluTyrValGlyTyrLeuValAspAlaGluGlyGlyAspIleTyrGlySerTyrGlnProThrTyrThrTyrAlaIleIleValGlnGluValGluArgGluAspAlaAspAsnSerSerPheLeuGlyLysIleTyrGlnIleAspIleGlyTyrSerGluTyrLysIleValSerSerLeuAspLeuTyrLysPheSerArgProGluGluSerSerGlnSerArgAspSerAlaProSerThrProThrSerProThrGluPheLeuThrProGlyLeuArgSerIleProProLeuPheSerGlyArgGluSerHisLysThrSerSerLysHisGlnSerProLysLysLeuLysValAsnSerLeuProGluIleLeuLysGluValThrSerValValGluGlnAlaTrpLysLeuProGluSerGluArgLysLysIleIleArgArgLeuTyrLeuLysTrpHisProAspLysAsnProGluAsnHisAspIleAlaAsnGluValPheLysHisLeuGlnAsnGluIleAsnArgLeuGluLysGlnAlaPheLeuAspGlnAsnAlaAspArgAlaSerArgArgThrPheSerThrSerAlaSerArgPheGlnSerAspLysTyrSerPheGlnArgPheTyrThrSerTrpAsnGlnGluAlaThrSerHisLysSerGluArgGlnGlnGlnAsnLysGluLysCysProProSerAlaGlyGlnThrTyrSerGlnArgPhePheValProProThrPheLysSerValGlyAsnProValGluAlaArgArgTrpLeuArgGlnAlaArgAlaAsnPheSerAlaAlaArgAsnAspLeuHisLysAsnAlaAsnGluTrpValCysPheLysCysTyrLeuSerThrLysLeuAlaLeuIleAlaAlaAspTyrAlaValArgGlyLysSerAspLysAspValLysProThrAlaLeuAlaGlnLysIleGluGluTyrSerGlnGlnLeuGluGlyLeuThrAsnAspValHisThrLeuGluAlaTyrGlyValAspSerLeuLysThrArgTyrProAspLeuLeuProPheProGlnIleProAsnAspArgPheThrSerGluValAlaMetArgValMetGluCysThrAlaCysIleIleIleLysLeuGluAsnPheMetGlnGlnLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582894" }, { "@id": "http://reg.genome.network/allele/PA2580354910", "coordinates": [ { "allele": "T", "end": 11681, "referenceAllele": "C", "start": 11680 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "NM_014363.6:c.11092C>T" ], "proteinEffect": { "hgvs": "NP_055178.3:p.Gln3698Ter", "hgvsWellDefined": "NP_055178.3:p.Gln3698_Val4579delinsLeuLeuTrpThrSerCysProIleLeuProGluLysAlaThrProLeuSerIleLysGluGlnGluGlySerAspLeuGlyProGlnGluGlnLeuGluGlnValLeuAsnMetLeuAsnValAsnLeuAspProProLeuAspLysValIleAsnAsnCysArgAsnIleCysAsnIleThrThrLeuAspGluGluMetValLysThrArgAlaLysValLeuArgSerIleTyrGluPheLeuSerAlaGluLysArgGluPheArgPheGlnLeuArgGlyValAlaPheValMetValGluAspGlyTrpLysLeuLeuLysProGluGluValValIleAsnLeuGluTyrGluSerAspPheLysProTyrLeuTyrLysLeuProLeuGluLeuGlyThrPheHisGlnLeuPheLysHisLeuGlyThrGluAspIleIleSerThrLysGlnTyrValGluValLeuSerArgIlePheLysAsnSerGluGlyLysGlnLeuAspProAsnGluMetArgThrValLysArgValValSerGlyLeuPheArgSerLeuGlnAsnAspSerValLysValArgSerAspLeuGluAsnValArgAspLeuAlaLeuTyrLeuProSerGlnAspGlyArgLeuValLysSerSerIleLeuValPheAspAspAlaProHisTyrLysSerArgIleGlnGlyAsnIleGlyValGlnMetLeuValAspLeuSerGlnCysTyrLeuGlyLysAspHisGlyPheHisThrLysLeuIleMetLeuPheProGlnLysLeuArgProArgLeuLeuSerSerIleLeuGluGluGlnLeuAspGluGluThrProLysValCysGlnPheGlyAlaLeuCysSerLeuGlnGlyArgLeuGlnLeuLeuLeuSerSerGluGlnPheIleThrGlyLeuIleArgIleMetLysHisGluAsnAspAsnAlaPheLeuAlaAsnGluGluLysAlaIleArgLeuCysLysAlaLeuArgGluGlyLeuLysValSerCysPheGluLysLeuGlnThrThrLeuArgValLysGlyPheAsnProIleProHisSerArgSerGluThrPheAlaPheLeuLysArgPheGlyAsnAlaValIleLeuLeuTyrIleGlnHisSerAspSerLysAspIleAsnPheLeuLeuAlaLeuAlaMetThrLeuLysSerAlaThrAspAsnLeuIleSerAspThrSerTyrLeuIleAlaMetLeuGlyCysAsnAspIleTyrArgIleGlyGluLysLeuAspSerLeuGlyValLysTyrAspSerSerGluProSerLysLeuGluLeuProMetProGlyThrProIleProAlaGluIleHisTyrThrLeuLeuMetAspProMetAsnValPheTyrProGlyGluTyrValGlyTyrLeuValAspAlaGluGlyGlyAspIleTyrGlySerTyrGlnProThrTyrThrTyrAlaIleIleValGlnGluValGluArgGluAspAlaAspAsnSerSerPheLeuGlyLysIleTyrGlnIleAspIleGlyTyrSerGluTyrLysIleValSerSerLeuAspLeuTyrLysPheSerArgProGluGluSerSerGlnSerArgAspSerAlaProSerThrProThrSerProThrGluPheLeuThrProGlyLeuArgSerIleProProLeuPheSerGlyArgGluSerHisLysThrSerSerLysHisGlnSerProLysLysLeuLysValAsnSerLeuProGluIleLeuLysGluValThrSerValValGluGlnAlaTrpLysLeuProGluSerGluArgLysLysIleIleArgArgLeuTyrLeuLysTrpHisProAspLysAsnProGluAsnHisAspIleAlaAsnGluValPheLysHisLeuGlnAsnGluIleAsnArgLeuGluLysGlnAlaPheLeuAspGlnAsnAlaAspArgAlaSerArgArgThrPheSerThrSerAlaSerArgPheGlnSerAspLysTyrSerPheGlnArgPheTyrThrSerTrpAsnGlnGluAlaThrSerHisLysSerGluArgGlnGlnGlnAsnLysGluLysCysProProSerAlaGlyGlnThrTyrSerGlnArgPhePheValProProThrPheLysSerValGlyAsnProValGluAlaArgArgTrpLeuArgGlnAlaArgAlaAsnPheSerAlaAlaArgAsnAspLeuHisLysAsnAlaAsnGluTrpValCysPheLysCysTyrLeuSerThrLysLeuAlaLeuIleAlaAlaAspTyrAlaValArgGlyLysSerAspLysAspValLysProThrAlaLeuAlaGlnLysIleGluGluTyrSerGlnGlnLeuGluGlyLeuThrAsnAspValHisThrLeuGluAlaTyrGlyValAspSerLeuLysThrArgTyrProAspLeuLeuProPheProGlnIleProAsnAspArgPheThrSerGluValAlaMetArgValMetGluCysThrAlaCysIleIleIleLysLeuGluAsnPheMetGlnGlnLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS668309", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000382292.9:c.11092C>T" }, "RefSeq": { "hgvs": "NM_014363.6:c.11092C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000371729.3:p.Gln3698Ter" }, "RefSeq": { "hgvs": "NP_055178.3:p.Gln3698Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826578388", "coordinates": [ { "allele": "T", "end": 11141, "referenceAllele": "C", "start": 11140 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "NM_001278055.2:c.10651C>T" ], "proteinEffect": { "hgvs": "NP_001264984.1:p.Gln3551Ter", "hgvsWellDefined": "NP_001264984.1:p.Gln3551_Val4432delinsLeuLeuTrpThrSerCysProIleLeuProGluLysAlaThrProLeuSerIleLysGluGlnGluGlySerAspLeuGlyProGlnGluGlnLeuGluGlnValLeuAsnMetLeuAsnValAsnLeuAspProProLeuAspLysValIleAsnAsnCysArgAsnIleCysAsnIleThrThrLeuAspGluGluMetValLysThrArgAlaLysValLeuArgSerIleTyrGluPheLeuSerAlaGluLysArgGluPheArgPheGlnLeuArgGlyValAlaPheValMetValGluAspGlyTrpLysLeuLeuLysProGluGluValValIleAsnLeuGluTyrGluSerAspPheLysProTyrLeuTyrLysLeuProLeuGluLeuGlyThrPheHisGlnLeuPheLysHisLeuGlyThrGluAspIleIleSerThrLysGlnTyrValGluValLeuSerArgIlePheLysAsnSerGluGlyLysGlnLeuAspProAsnGluMetArgThrValLysArgValValSerGlyLeuPheArgSerLeuGlnAsnAspSerValLysValArgSerAspLeuGluAsnValArgAspLeuAlaLeuTyrLeuProSerGlnAspGlyArgLeuValLysSerSerIleLeuValPheAspAspAlaProHisTyrLysSerArgIleGlnGlyAsnIleGlyValGlnMetLeuValAspLeuSerGlnCysTyrLeuGlyLysAspHisGlyPheHisThrLysLeuIleMetLeuPheProGlnLysLeuArgProArgLeuLeuSerSerIleLeuGluGluGlnLeuAspGluGluThrProLysValCysGlnPheGlyAlaLeuCysSerLeuGlnGlyArgLeuGlnLeuLeuLeuSerSerGluGlnPheIleThrGlyLeuIleArgIleMetLysHisGluAsnAspAsnAlaPheLeuAlaAsnGluGluLysAlaIleArgLeuCysLysAlaLeuArgGluGlyLeuLysValSerCysPheGluLysLeuGlnThrThrLeuArgValLysGlyPheAsnProIleProHisSerArgSerGluThrPheAlaPheLeuLysArgPheGlyAsnAlaValIleLeuLeuTyrIleGlnHisSerAspSerLysAspIleAsnPheLeuLeuAlaLeuAlaMetThrLeuLysSerAlaThrAspAsnLeuIleSerAspThrSerTyrLeuIleAlaMetLeuGlyCysAsnAspIleTyrArgIleGlyGluLysLeuAspSerLeuGlyValLysTyrAspSerSerGluProSerLysLeuGluLeuProMetProGlyThrProIleProAlaGluIleHisTyrThrLeuLeuMetAspProMetAsnValPheTyrProGlyGluTyrValGlyTyrLeuValAspAlaGluGlyGlyAspIleTyrGlySerTyrGlnProThrTyrThrTyrAlaIleIleValGlnGluValGluArgGluAspAlaAspAsnSerSerPheLeuGlyLysIleTyrGlnIleAspIleGlyTyrSerGluTyrLysIleValSerSerLeuAspLeuTyrLysPheSerArgProGluGluSerSerGlnSerArgAspSerAlaProSerThrProThrSerProThrGluPheLeuThrProGlyLeuArgSerIleProProLeuPheSerGlyArgGluSerHisLysThrSerSerLysHisGlnSerProLysLysLeuLysValAsnSerLeuProGluIleLeuLysGluValThrSerValValGluGlnAlaTrpLysLeuProGluSerGluArgLysLysIleIleArgArgLeuTyrLeuLysTrpHisProAspLysAsnProGluAsnHisAspIleAlaAsnGluValPheLysHisLeuGlnAsnGluIleAsnArgLeuGluLysGlnAlaPheLeuAspGlnAsnAlaAspArgAlaSerArgArgThrPheSerThrSerAlaSerArgPheGlnSerAspLysTyrSerPheGlnArgPheTyrThrSerTrpAsnGlnGluAlaThrSerHisLysSerGluArgGlnGlnGlnAsnLysGluLysCysProProSerAlaGlyGlnThrTyrSerGlnArgPhePheValProProThrPheLysSerValGlyAsnProValGluAlaArgArgTrpLeuArgGlnAlaArgAlaAsnPheSerAlaAlaArgAsnAspLeuHisLysAsnAlaAsnGluTrpValCysPheLysCysTyrLeuSerThrLysLeuAlaLeuIleAlaAlaAspTyrAlaValArgGlyLysSerAspLysAspValLysProThrAlaLeuAlaGlnLysIleGluGluTyrSerGlnGlnLeuGluGlyLeuThrAsnAspValHisThrLeuGluAlaTyrGlyValAspSerLeuLysThrArgTyrProAspLeuLeuProPheProGlnIleProAsnAspArgPheThrSerGluValAlaMetArgValMetGluCysThrAlaCysIleIleIleLysLeuGluAsnPheMetGlnGlnLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681389" } ], "type": "nucleotide" }