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"ENSP00000371729.3:p.Gln3602_Val4579delinsPheAlaLysGluIleSerValArgAlaAsnThrGluAsnTrpSerLysGluThrLeuGlnAsnThrValAspIleLeuLeuHisHisIlePheGlnGluArgMetAspLeuLeuSerGlyAsnPheLeuLysGluLeuSerLeuIleProPheLeuCysProGluArgAlaProAlaGluPheIleArgPheHisProGlnTyrGlnGluValAsnGlyThrLeuProLeuIleLysPheAsnGlyAlaGlnValAsnProLysPheLysGlnCysAspValLeuGlnLeuLeuTrpThrSerCysProIleLeuProGluLysAlaThrProLeuSerIleLysGluGlnGluGlySerAspLeuGlyProGlnGluGlnLeuGluGlnValLeuAsnMetLeuAsnValAsnLeuAspProProLeuAspLysValIleAsnAsnCysArgAsnIleCysAsnIleThrThrLeuAspGluGluMetValLysThrArgAlaLysValLeuArgSerIleTyrGluPheLeuSerAlaGluLysArgGluPheArgPheGlnLeuArgGlyValAlaPheValMetValGluAspGlyTrpLysLeuLeuLysProGluGluValValIleAsnLeuGluTyrGluSerAspPheLysProTyrLeuTyrLysLeuProLeuGluLeuGlyThrPheHisGlnLeuPheLysHisLeuGlyThrGluAspIleIleSerThrLysGlnTyrValGluValLeuSerArgIlePheLysAsnSerGluGlyLysGlnLeuAspProAsnGluMetArgThrValLysArgValValSerGlyLeuPheArgSerLeuGlnAsnAspSerValLysValArgSerAspLeuGluAsnValArgAspLeuAlaLeuTyrLeuProSerGlnAspGlyArgLeuValLysSerSerIleLeuValPheAspAspAlaProHisTyrLysSerArgIleGlnGlyAsnIleGlyValGlnMetLeuValAspLeuSerGlnCysTyrLeuGlyLysAspHisGlyPheHisThrLysLeuIleMetLeuPheProGlnLysLeuArgProArgLeuLeuSerSerIleLeuGluGluGlnLeuAspGluGluThrProLysValCysGlnPheGlyAlaLeuCysSerLeuGlnGlyArgLeuGlnLeuLeuLeuSerSerGluGlnPheIleThrGlyLeuIleArgIleMetLysHisGluAsnAspAsnAlaPheLeuAlaAsnGluGluLysAlaIleArgLeuCysLysAlaLeuArgGluGlyLeuLysValSerCysPheGluLysLeuGlnThrThrLeuArgValLysGlyPheAsnProIleProHisSerArgSerGluThrPheAlaPheLeuLysArgPheGlyAsnAlaValIleLeuLeuTyrIleGlnHisSerAspSerLysAspIleAsnPheLeuLeuAlaLeuAlaMetThrLeuLysSerAlaThrAspAsnLeuIleSerAspThrSerTyrLeuIleAlaMetLeuGlyCysAsnAspIleTyrArgIleGlyGluLysLeuAspSerLeuGlyValLysTyrAspSerSerGluProSerLysLeuGluLeuProMetProGlyThrProIleProAlaGluIleHisTyrThrLeuLeuMetAspProMetAsnValPheTyrProGlyGluTyrValGlyTyrLeuValAspAlaGluGlyGlyAspIleTyrGlySerTyrGlnProThrTyrThrTyrAlaIleIleValGlnGluValGluArgGluAspAlaAspAsnSerSerPheLeuGlyLysIleTyrGlnIleAspIleGlyTyrSerGluTyrLysIleValSerSerLeuAspLeuTyrLysPheSerArgProGluGluSerSerGlnSerArgAspSerAlaProSerThrProThrSerProThrGluPheLeuThrProGlyLeuArgSerIleProProLeuPheSerGlyArgGluSerHisLysThrSerSerLysHisGlnSerProLysLysLeuLysValAsnSerLeuProGluIleLeuLysGluValThrSerValValGluGlnAlaTrpLysLeuProGluSerGluArgLysLysIleIleArgArgLeuTyrLeuLysTrpHisProAspLysAsnProGluAsnHisAspIleAlaAsnGluValPheLysHisLeuGlnAsnGluIleAsnArgLeuGluLysGlnAlaPheLeuAspGlnAsnAlaAspArgAlaSerArgArgThrPheSerThrSerAlaSerArgPheGlnSerAspLysTyrSerPheGlnArgPheTyrThrSerTrpAsnGlnGluAlaThrSerHisLysSerGluArgGlnGlnGlnAsnLysGluLysCysProProSerAlaGlyGlnThrTyrSerGlnArgPhePheValProProThrPheLysSerValGlyAsnProValGluAlaArgArgTrpLeuArgGlnAlaArgAlaAsnPheSerAlaAlaArgAsnAspLeuHisLysAsnAlaAsnGluTrpValCysPheLysCysTyrLeuSerThrLysLeuAlaLeuIleAlaAlaAspTyrAlaValArgGlyLysSerAspLysAspValLysProThrAlaLeuAlaGlnLysIleGluGluTyrSerGlnGlnLeuGluGlyLeuThrAsnAspValHisThrLeuGluAlaTyrGlyValAspSerLeuLysThrArgTyrProAspLeuLeuProPheProGlnIleProAsnAspArgPheThrSerGluValAlaMetArgValMetGluCysThrAlaCysIleIleIleLysLeuGluAsnPheMetGlnGlnLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS273693" }, { "coordinates": [ { "allele": "T", "end": 11419, "referenceAllele": "C", "start": 11418 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "ENST00000382298.7:c.10804C>T" ], "proteinEffect": { "hgvs": "ENSP00000371735.3:p.Gln3602Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS273698" }, { "coordinates": [ { "allele": "T", "end": 10888, "referenceAllele": "C", "start": 10887 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "ENST00000402364.1:c.8554C>T" ], "proteinEffect": { "hgvs": "ENSP00000385844.1:p.Gln2852Ter", "hgvsWellDefined": "ENSP00000385844.1:p.Gln2852_Val3829delinsPheAlaLysGluIleSerValArgAlaAsnThrGluAsnTrpSerLysGluThrLeuGlnAsnThrValAspIleLeuLeuHisHisIlePheGlnGluArgMetAspLeuLeuSerGlyAsnPheLeuLysGluLeuSerLeuIleProPheLeuCysProGluArgAlaProAlaGluPheIleArgPheHisProGlnTyrGlnGluValAsnGlyThrLeuProLeuIleLysPheAsnGlyAlaGlnValAsnProLysPheLysGlnCysAspValLeuGlnLeuLeuTrpThrSerCysProIleLeuProGluLysAlaThrProLeuSerIleLysGluGlnGluGlySerAspLeuGlyProGlnGluGlnLeuGluGlnValLeuAsnMetLeuAsnValAsnLeuAspProProLeuAspLysValIleAsnAsnCysArgAsnIleCysAsnIleThrThrLeuAspGluGluMetValLysThrArgAlaLysValLeuArgSerIleTyrGluPheLeuSerAlaGluLysArgGluPheArgPheGlnLeuArgGlyValAlaPheValMetValGluAspGlyTrpLysLeuLeuLysProGluGluValValIleAsnLeuGluTyrGluSerAspPheLysProTyrLeuTyrLysLeuProLeuGluLeuGlyThrPheHisGlnLeuPheLysHisLeuGlyThrGluAspIleIleSerThrLysGlnTyrValGluValLeuSerArgIlePheLysAsnSerGluGlyLysGlnLeuAspProAsnGluMetArgThrValLysArgValValSerGlyLeuPheArgSerLeuGlnAsnAspSerValLysValArgSerAspLeuGluAsnValArgAspLeuAlaLeuTyrLeuProSerGlnAspGlyArgLeuValLysSerSerIleLeuValPheAspAspAlaProHisTyrLysSerArgIleGlnGlyAsnIleGlyValGlnMetLeuValAspLeuSerGlnCysTyrLeuGlyLysAspHisGlyPheHisThrLysLeuIleMetLeuPheProGlnLysLeuArgProArgLeuLeuSerSerIleLeuGluGluGlnLeuAspGluGluThrProLysValCysGlnPheGlyAlaLeuCysSerLeuGlnGlyArgLeuGlnLeuLeuLeuSerSerGluGlnPheIleThrGlyLeuIleArgIleMetLysHisGluAsnAspAsnAlaPheLeuAlaAsnGluGluLysAlaIleArgLeuCysLysAlaLeuArgGluGlyLeuLysValSerCysPheGluLysLeuGlnThrThrLeuArgValLysGlyPheAsnProIleProHisSerArgSerGluThrPheAlaPheLeuLysArgPheGlyAsnAlaValIleLeuLeuTyrIleGlnHisSerAspSerLysAspIleAsnPheLeuLeuAlaLeuAlaMetThrLeuLysSerAlaThrAspAsnLeuIleSerAspThrSerTyrLeuIleAlaMetLeuGlyCysAsnAspIleTyrArgIleGlyGluLysLeuAspSerLeuGlyValLysTyrAspSerSerGluProSerLysLeuGluLeuProMetProGlyThrProIleProAlaGluIleHisTyrThrLeuLeuMetAspProMetAsnValPheTyrProGlyGluTyrValGlyTyrLeuValAspAlaGluGlyGlyAspIleTyrGlySerTyrGlnProThrTyrThrTyrAlaIleIleValGlnGluValGluArgGluAspAlaAspAsnSerSerPheLeuGlyLysIleTyrGlnIleAspIleGlyTyrSerGluTyrLysIleValSerSerLeuAspLeuTyrLysPheSerArgProGluGluSerSerGlnSerArgAspSerAlaProSerThrProThrSerProThrGluPheLeuThrProGlyLeuArgSerIleProProLeuPheSerGlyArgGluSerHisLysThrSerSerLysHisGlnSerProLysLysLeuLysValAsnSerLeuProGluIleLeuLysGluValThrSerValValGluGlnAlaTrpLysLeuProGluSerGluArgLysLysIleIleArgArgLeuTyrLeuLysTrpHisProAspLysAsnProGluAsnHisAspIleAlaAsnGluValPheLysHisLeuGlnAsnGluIleAsnArgLeuGluLysGlnAlaPheLeuAspGlnAsnAlaAspArgAlaSerArgArgThrPheSerThrSerAlaSerArgPheGlnSerAspLysTyrSerPheGlnArgPheTyrThrSerTrpAsnGlnGluAlaThrSerHisLysSerGluArgGlnGlnGlnAsnLysGluLysCysProProSerAlaGlyGlnThrTyrSerGlnArgPhePheValProProThrPheLysSerValGlyAsnProValGluAlaArgArgTrpLeuArgGlnAlaArgAlaAsnPheSerAlaAlaArgAsnAspLeuHisLysAsnAlaAsnGluTrpValCysPheLysCysTyrLeuSerThrLysLeuAlaLeuIleAlaAlaAspTyrAlaValArgGlyLysSerAspLysAspValLysProThrAlaLeuAlaGlnLysIleGluGluTyrSerGlnGlnLeuGluGlyLeuThrAsnAspValHisThrLeuGluAlaTyrGlyValAspSerLeuLysThrArgTyrProAspLeuLeuProPheProGlnIleProAsnAspArgPheThrSerGluValAlaMetArgValMetGluCysThrAlaCysIleIleIleLysLeuGluAsnPheMetGlnGlnLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS279490" }, { "coordinates": [ { "allele": "T", "end": 1057, "endIntronDirection": "-", "endIntronOffset": 3587, "referenceAllele": "C", "start": 1057, "startIntronDirection": "-", "startIntronOffset": 3588 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "ENST00000423156.1:c.1058-3588C>T" ], "proteinEffect": { "hgvs": "ENSP00000390925.1:n.1058-3588C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS287621" }, { "coordinates": [ { "allele": "T", "end": 2129, "endIntronDirection": "-", "endIntronOffset": 3587, "referenceAllele": "C", "start": 2129, "startIntronDirection": "-", "startIntronOffset": 3588 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "ENST00000455470.5:c.2130-3588C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS303060" }, { "@id": "http://reg.genome.network/allele/PA2826578322", "coordinates": [ { "allele": "T", "end": 10888, "referenceAllele": "C", "start": 10887 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "NM_001278055.1:c.10363C>T" ], "proteinEffect": { "hgvs": "NP_001264984.1:p.Gln3455Ter", "hgvsWellDefined": "NP_001264984.1:p.Gln3455_Val4432delinsPheAlaLysGluIleSerValArgAlaAsnThrGluAsnTrpSerLysGluThrLeuGlnAsnThrValAspIleLeuLeuHisHisIlePheGlnGluArgMetAspLeuLeuSerGlyAsnPheLeuLysGluLeuSerLeuIleProPheLeuCysProGluArgAlaProAlaGluPheIleArgPheHisProGlnTyrGlnGluValAsnGlyThrLeuProLeuIleLysPheAsnGlyAlaGlnValAsnProLysPheLysGlnCysAspValLeuGlnLeuLeuTrpThrSerCysProIleLeuProGluLysAlaThrProLeuSerIleLysGluGlnGluGlySerAspLeuGlyProGlnGluGlnLeuGluGlnValLeuAsnMetLeuAsnValAsnLeuAspProProLeuAspLysValIleAsnAsnCysArgAsnIleCysAsnIleThrThrLeuAspGluGluMetValLysThrArgAlaLysValLeuArgSerIleTyrGluPheLeuSerAlaGluLysArgGluPheArgPheGlnLeuArgGlyValAlaPheValMetValGluAspGlyTrpLysLeuLeuLysProGluGluValValIleAsnLeuGluTyrGluSerAspPheLysProTyrLeuTyrLysLeuProLeuGluLeuGlyThrPheHisGlnLeuPheLysHisLeuGlyThrGluAspIleIleSerThrLysGlnTyrValGluValLeuSerArgIlePheLysAsnSerGluGlyLysGlnLeuAspProAsnGluMetArgThrValLysArgValValSerGlyLeuPheArgSerLeuGlnAsnAspSerValLysValArgSerAspLeuGluAsnValArgAspLeuAlaLeuTyrLeuProSerGlnAspGlyArgLeuValLysSerSerIleLeuValPheAspAspAlaProHisTyrLysSerArgIleGlnGlyAsnIleGlyValGlnMetLeuValAspLeuSerGlnCysTyrLeuGlyLysAspHisGlyPheHisThrLysLeuIleMetLeuPheProGlnLysLeuArgProArgLeuLeuSerSerIleLeuGluGluGlnLeuAspGluGluThrProLysValCysGlnPheGlyAlaLeuCysSerLeuGlnGlyArgLeuGlnLeuLeuLeuSerSerGluGlnPheIleThrGlyLeuIleArgIleMetLysHisGluAsnAspAsnAlaPheLeuAlaAsnGluGluLysAlaIleArgLeuCysLysAlaLeuArgGluGlyLeuLysValSerCysPheGluLysLeuGlnThrThrLeuArgValLysGlyPheAsnProIleProHisSerArgSerGluThrPheAlaPheLeuLysArgPheGlyAsnAlaValIleLeuLeuTyrIleGlnHisSerAspSerLysAspIleAsnPheLeuLeuAlaLeuAlaMetThrLeuLysSerAlaThrAspAsnLeuIleSerAspThrSerTyrLeuIleAlaMetLeuGlyCysAsnAspIleTyrArgIleGlyGluLysLeuAspSerLeuGlyValLysTyrAspSerSerGluProSerLysLeuGluLeuProMetProGlyThrProIleProAlaGluIleHisTyrThrLeuLeuMetAspProMetAsnValPheTyrProGlyGluTyrValGlyTyrLeuValAspAlaGluGlyGlyAspIleTyrGlySerTyrGlnProThrTyrThrTyrAlaIleIleValGlnGluValGluArgGluAspAlaAspAsnSerSerPheLeuGlyLysIleTyrGlnIleAspIleGlyTyrSerGluTyrLysIleValSerSerLeuAspLeuTyrLysPheSerArgProGluGluSerSerGlnSerArgAspSerAlaProSerThrProThrSerProThrGluPheLeuThrProGlyLeuArgSerIleProProLeuPheSerGlyArgGluSerHisLysThrSerSerLysHisGlnSerProLysLysLeuLysValAsnSerLeuProGluIleLeuLysGluValThrSerValValGluGlnAlaTrpLysLeuProGluSerGluArgLysLysIleIleArgArgLeuTyrLeuLysTrpHisProAspLysAsnProGluAsnHisAspIleAlaAsnGluValPheLysHisLeuGlnAsnGluIleAsnArgLeuGluLysGlnAlaPheLeuAspGlnAsnAlaAspArgAlaSerArgArgThrPheSerThrSerAlaSerArgPheGlnSerAspLysTyrSerPheGlnArgPheTyrThrSerTrpAsnGlnGluAlaThrSerHisLysSerGluArgGlnGlnGlnAsnLysGluLysCysProProSerAlaGlyGlnThrTyrSerGlnArgPhePheValProProThrPheLysSerValGlyAsnProValGluAlaArgArgTrpLeuArgGlnAlaArgAlaAsnPheSerAlaAlaArgAsnAspLeuHisLysAsnAlaAsnGluTrpValCysPheLysCysTyrLeuSerThrLysLeuAlaLeuIleAlaAlaAspTyrAlaValArgGlyLysSerAspLysAspValLysProThrAlaLeuAlaGlnLysIleGluGluTyrSerGlnGlnLeuGluGlyLeuThrAsnAspValHisThrLeuGluAlaTyrGlyValAspSerLeuLysThrArgTyrProAspLeuLeuProPheProGlnIleProAsnAspArgPheThrSerGluValAlaMetArgValMetGluCysThrAlaCysIleIleIleLysLeuGluAsnPheMetGlnGlnLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS021054" }, { "@id": "http://reg.genome.network/allele/PA645437645", "coordinates": [ { "allele": "T", "end": 11419, "referenceAllele": "C", "start": 11418 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "NM_014363.5:c.10804C>T" ], "proteinEffect": { "hgvs": "NP_055178.3:p.Gln3602Ter", "hgvsWellDefined": "NP_055178.3:p.Gln3602_Val4579delinsPheAlaLysGluIleSerValArgAlaAsnThrGluAsnTrpSerLysGluThrLeuGlnAsnThrValAspIleLeuLeuHisHisIlePheGlnGluArgMetAspLeuLeuSerGlyAsnPheLeuLysGluLeuSerLeuIleProPheLeuCysProGluArgAlaProAlaGluPheIleArgPheHisProGlnTyrGlnGluValAsnGlyThrLeuProLeuIleLysPheAsnGlyAlaGlnValAsnProLysPheLysGlnCysAspValLeuGlnLeuLeuTrpThrSerCysProIleLeuProGluLysAlaThrProLeuSerIleLysGluGlnGluGlySerAspLeuGlyProGlnGluGlnLeuGluGlnValLeuAsnMetLeuAsnValAsnLeuAspProProLeuAspLysValIleAsnAsnCysArgAsnIleCysAsnIleThrThrLeuAspGluGluMetValLysThrArgAlaLysValLeuArgSerIleTyrGluPheLeuSerAlaGluLysArgGluPheArgPheGlnLeuArgGlyValAlaPheValMetValGluAspGlyTrpLysLeuLeuLysProGluGluValValIleAsnLeuGluTyrGluSerAspPheLysProTyrLeuTyrLysLeuProLeuGluLeuGlyThrPheHisGlnLeuPheLysHisLeuGlyThrGluAspIleIleSerThrLysGlnTyrValGluValLeuSerArgIlePheLysAsnSerGluGlyLysGlnLeuAspProAsnGluMetArgThrValLysArgValValSerGlyLeuPheArgSerLeuGlnAsnAspSerValLysValArgSerAspLeuGluAsnValArgAspLeuAlaLeuTyrLeuProSerGlnAspGlyArgLeuValLysSerSerIleLeuValPheAspAspAlaProHisTyrLysSerArgIleGlnGlyAsnIleGlyValGlnMetLeuValAspLeuSerGlnCysTyrLeuGlyLysAspHisGlyPheHisThrLysLeuIleMetLeuPheProGlnLysLeuArgProArgLeuLeuSerSerIleLeuGluGluGlnLeuAspGluGluThrProLysValCysGlnPheGlyAlaLeuCysSerLeuGlnGlyArgLeuGlnLeuLeuLeuSerSerGluGlnPheIleThrGlyLeuIleArgIleMetLysHisGluAsnAspAsnAlaPheLeuAlaAsnGluGluLysAlaIleArgLeuCysLysAlaLeuArgGluGlyLeuLysValSerCysPheGluLysLeuGlnThrThrLeuArgValLysGlyPheAsnProIleProHisSerArgSerGluThrPheAlaPheLeuLysArgPheGlyAsnAlaValIleLeuLeuTyrIleGlnHisSerAspSerLysAspIleAsnPheLeuLeuAlaLeuAlaMetThrLeuLysSerAlaThrAspAsnLeuIleSerAspThrSerTyrLeuIleAlaMetLeuGlyCysAsnAspIleTyrArgIleGlyGluLysLeuAspSerLeuGlyValLysTyrAspSerSerGluProSerLysLeuGluLeuProMetProGlyThrProIleProAlaGluIleHisTyrThrLeuLeuMetAspProMetAsnValPheTyrProGlyGluTyrValGlyTyrLeuValAspAlaGluGlyGlyAspIleTyrGlySerTyrGlnProThrTyrThrTyrAlaIleIleValGlnGluValGluArgGluAspAlaAspAsnSerSerPheLeuGlyLysIleTyrGlnIleAspIleGlyTyrSerGluTyrLysIleValSerSerLeuAspLeuTyrLysPheSerArgProGluGluSerSerGlnSerArgAspSerAlaProSerThrProThrSerProThrGluPheLeuThrProGlyLeuArgSerIleProProLeuPheSerGlyArgGluSerHisLysThrSerSerLysHisGlnSerProLysLysLeuLysValAsnSerLeuProGluIleLeuLysGluValThrSerValValGluGlnAlaTrpLysLeuProGluSerGluArgLysLysIleIleArgArgLeuTyrLeuLysTrpHisProAspLysAsnProGluAsnHisAspIleAlaAsnGluValPheLysHisLeuGlnAsnGluIleAsnArgLeuGluLysGlnAlaPheLeuAspGlnAsnAlaAspArgAlaSerArgArgThrPheSerThrSerAlaSerArgPheGlnSerAspLysTyrSerPheGlnArgPheTyrThrSerTrpAsnGlnGluAlaThrSerHisLysSerGluArgGlnGlnGlnAsnLysGluLysCysProProSerAlaGlyGlnThrTyrSerGlnArgPhePheValProProThrPheLysSerValGlyAsnProValGluAlaArgArgTrpLeuArgGlnAlaArgAlaAsnPheSerAlaAlaArgAsnAspLeuHisLysAsnAlaAsnGluTrpValCysPheLysCysTyrLeuSerThrLysLeuAlaLeuIleAlaAlaAspTyrAlaValArgGlyLysSerAspLysAspValLysProThrAlaLeuAlaGlnLysIleGluGluTyrSerGlnGlnLeuGluGlyLeuThrAsnAspValHisThrLeuGluAlaTyrGlyValAspSerLeuLysThrArgTyrProAspLeuLeuProPheProGlnIleProAsnAspArgPheThrSerGluValAlaMetArgValMetGluCysThrAlaCysIleIleIleLysLeuGluAsnPheMetGlnGlnLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033115" }, { "coordinates": [ { "allele": "T", "end": 11446, "referenceAllele": "C", "start": 11445 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "XM_005266338.1:c.10831C>T" ], "proteinEffect": { "hgvs": "XP_005266395.1:p.Gln3611Ter", "hgvsWellDefined": "XP_005266395.1:p.Gln3611_Val4588delinsPheAlaLysGluIleSerValArgAlaAsnThrGluAsnTrpSerLysGluThrLeuGlnAsnThrValAspIleLeuLeuHisHisIlePheGlnGluArgMetAspLeuLeuSerGlyAsnPheLeuLysGluLeuSerLeuIleProPheLeuCysProGluArgAlaProAlaGluPheIleArgPheHisProGlnTyrGlnGluValAsnGlyThrLeuProLeuIleLysPheAsnGlyAlaGlnValAsnProLysPheLysGlnCysAspValLeuGlnLeuLeuTrpThrSerCysProIleLeuProGluLysAlaThrProLeuSerIleLysGluGlnGluGlySerAspLeuGlyProGlnGluGlnLeuGluGlnValLeuAsnMetLeuAsnValAsnLeuAspProProLeuAspLysValIleAsnAsnCysArgAsnIleCysAsnIleThrThrLeuAspGluGluMetValLysThrArgAlaLysValLeuArgSerIleTyrGluPheLeuSerAlaGluLysArgGluPheArgPheGlnLeuArgGlyValAlaPheValMetValGluAspGlyTrpLysLeuLeuLysProGluGluValValIleAsnLeuGluTyrGluSerAspPheLysProTyrLeuTyrLysLeuProLeuGluLeuGlyThrPheHisGlnLeuPheLysHisLeuGlyThrGluAspIleIleSerThrLysGlnTyrValGluValLeuSerArgIlePheLysAsnSerGluGlyLysGlnLeuAspProAsnGluMetArgThrValLysArgValValSerGlyLeuPheArgSerLeuGlnAsnAspSerValLysValArgSerAspLeuGluAsnValArgAspLeuAlaLeuTyrLeuProSerGlnAspGlyArgLeuValLysSerSerIleLeuValPheAspAspAlaProHisTyrLysSerArgIleGlnGlyAsnIleGlyValGlnMetLeuValAspLeuSerGlnCysTyrLeuGlyLysAspHisGlyPheHisThrLysLeuIleMetLeuPheProGlnLysLeuArgProArgLeuLeuSerSerIleLeuGluGluGlnLeuAspGluGluThrProLysValCysGlnPheGlyAlaLeuCysSerLeuGlnGlyArgLeuGlnLeuLeuLeuSerSerGluGlnPheIleThrGlyLeuIleArgIleMetLysHisGluAsnAspAsnAlaPheLeuAlaAsnGluGluLysAlaIleArgLeuCysLysAlaLeuArgGluGlyLeuLysValSerCysPheGluLysLeuGlnThrThrLeuArgValLysGlyPheAsnProIleProHisSerArgSerGluThrPheAlaPheLeuLysArgPheGlyAsnAlaValIleLeuLeuTyrIleGlnHisSerAspSerLysAspIleAsnPheLeuLeuAlaLeuAlaMetThrLeuLysSerAlaThrAspAsnLeuIleSerAspThrSerTyrLeuIleAlaMetLeuGlyCysAsnAspIleTyrArgIleGlyGluLysLeuAspSerLeuGlyValLysTyrAspSerSerGluProSerLysLeuGluLeuProMetProGlyThrProIleProAlaGluIleHisTyrThrLeuLeuMetAspProMetAsnValPheTyrProGlyGluTyrValGlyTyrLeuValAspAlaGluGlyGlyAspIleTyrGlySerTyrGlnProThrTyrThrTyrAlaIleIleValGlnGluValGluArgGluAspAlaAspAsnSerSerPheLeuGlyLysIleTyrGlnIleAspIleGlyTyrSerGluTyrLysIleValSerSerLeuAspLeuTyrLysPheSerArgProGluGluSerSerGlnSerArgAspSerAlaProSerThrProThrSerProThrGluPheLeuThrProGlyLeuArgSerIleProProLeuPheSerGlyArgGluSerHisLysThrSerSerLysHisGlnSerProLysLysLeuLysValAsnSerLeuProGluIleLeuLysGluValThrSerValValGluGlnAlaTrpLysLeuProGluSerGluArgLysLysIleIleArgArgLeuTyrLeuLysTrpHisProAspLysAsnProGluAsnHisAspIleAlaAsnGluValPheLysHisLeuGlnAsnGluIleAsnArgLeuGluLysGlnAlaPheLeuAspGlnAsnAlaAspArgAlaSerArgArgThrPheSerThrSerAlaSerArgPheGlnSerAspLysTyrSerPheGlnArgPheTyrThrSerTrpAsnGlnGluAlaThrSerHisLysSerGluArgGlnGlnGlnAsnLysGluLysCysProProSerAlaGlyGlnThrTyrSerGlnArgPhePheValProProThrPheLysSerValGlyAsnProValGluAlaArgArgTrpLeuArgGlnAlaArgAlaAsnPheSerAlaAlaArgAsnAspLeuHisLysAsnAlaAsnGluTrpValCysPheLysCysTyrLeuSerThrLysLeuAlaLeuIleAlaAlaAspTyrAlaValArgGlyLysSerAspLysAspValLysProThrAlaLeuAlaGlnLysIleGluGluTyrSerGlnGlnLeuGluGlyLeuThrAsnAspValHisThrLeuGluAlaTyrGlyValAspSerLeuLysThrArgTyrProAspLeuLeuProPheProGlnIleProAsnAspArgPheThrSerGluValAlaMetArgValMetGluCysThrAlaCysIleIleIleLysLeuGluAsnPheMetGlnGlnLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065016" }, { "coordinates": [ { "allele": "T", "end": 10873, "referenceAllele": "C", "start": 10872 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "XM_011535038.1:c.10855C>T" ], "proteinEffect": { "hgvs": "XP_011533340.1:p.Gln3619Ter", "hgvsWellDefined": "XP_011533340.1:p.Gln3619_Val4596delinsPheAlaLysGluIleSerValArgAlaAsnThrGluAsnTrpSerLysGluThrLeuGlnAsnThrValAspIleLeuLeuHisHisIlePheGlnGluArgMetAspLeuLeuSerGlyAsnPheLeuLysGluLeuSerLeuIleProPheLeuCysProGluArgAlaProAlaGluPheIleArgPheHisProGlnTyrGlnGluValAsnGlyThrLeuProLeuIleLysPheAsnGlyAlaGlnValAsnProLysPheLysGlnCysAspValLeuGlnLeuLeuTrpThrSerCysProIleLeuProGluLysAlaThrProLeuSerIleLysGluGlnGluGlySerAspLeuGlyProGlnGluGlnLeuGluGlnValLeuAsnMetLeuAsnValAsnLeuAspProProLeuAspLysValIleAsnAsnCysArgAsnIleCysAsnIleThrThrLeuAspGluGluMetValLysThrArgAlaLysValLeuArgSerIleTyrGluPheLeuSerAlaGluLysArgGluPheArgPheGlnLeuArgGlyValAlaPheValMetValGluAspGlyTrpLysLeuLeuLysProGluGluValValIleAsnLeuGluTyrGluSerAspPheLysProTyrLeuTyrLysLeuProLeuGluLeuGlyThrPheHisGlnLeuPheLysHisLeuGlyThrGluAspIleIleSerThrLysGlnTyrValGluValLeuSerArgIlePheLysAsnSerGluGlyLysGlnLeuAspProAsnGluMetArgThrValLysArgValValSerGlyLeuPheArgSerLeuGlnAsnAspSerValLysValArgSerAspLeuGluAsnValArgAspLeuAlaLeuTyrLeuProSerGlnAspGlyArgLeuValLysSerSerIleLeuValPheAspAspAlaProHisTyrLysSerArgIleGlnGlyAsnIleGlyValGlnMetLeuValAspLeuSerGlnCysTyrLeuGlyLysAspHisGlyPheHisThrLysLeuIleMetLeuPheProGlnLysLeuArgProArgLeuLeuSerSerIleLeuGluGluGlnLeuAspGluGluThrProLysValCysGlnPheGlyAlaLeuCysSerLeuGlnGlyArgLeuGlnLeuLeuLeuSerSerGluGlnPheIleThrGlyLeuIleArgIleMetLysHisGluAsnAspAsnAlaPheLeuAlaAsnGluGluLysAlaIleArgLeuCysLysAlaLeuArgGluGlyLeuLysValSerCysPheGluLysLeuGlnThrThrLeuArgValLysGlyPheAsnProIleProHisSerArgSerGluThrPheAlaPheLeuLysArgPheGlyAsnAlaValIleLeuLeuTyrIleGlnHisSerAspSerLysAspIleAsnPheLeuLeuAlaLeuAlaMetThrLeuLysSerAlaThrAspAsnLeuIleSerAspThrSerTyrLeuIleAlaMetLeuGlyCysAsnAspIleTyrArgIleGlyGluLysLeuAspSerLeuGlyValLysTyrAspSerSerGluProSerLysLeuGluLeuProMetProGlyThrProIleProAlaGluIleHisTyrThrLeuLeuMetAspProMetAsnValPheTyrProGlyGluTyrValGlyTyrLeuValAspAlaGluGlyGlyAspIleTyrGlySerTyrGlnProThrTyrThrTyrAlaIleIleValGlnGluValGluArgGluAspAlaAspAsnSerSerPheLeuGlyLysIleTyrGlnIleAspIleGlyTyrSerGluTyrLysIleValSerSerLeuAspLeuTyrLysPheSerArgProGluGluSerSerGlnSerArgAspSerAlaProSerThrProThrSerProThrGluPheLeuThrProGlyLeuArgSerIleProProLeuPheSerGlyArgGluSerHisLysThrSerSerLysHisGlnSerProLysLysLeuLysValAsnSerLeuProGluIleLeuLysGluValThrSerValValGluGlnAlaTrpLysLeuProGluSerGluArgLysLysIleIleArgArgLeuTyrLeuLysTrpHisProAspLysAsnProGluAsnHisAspIleAlaAsnGluValPheLysHisLeuGlnAsnGluIleAsnArgLeuGluLysGlnAlaPheLeuAspGlnAsnAlaAspArgAlaSerArgArgThrPheSerThrSerAlaSerArgPheGlnSerAspLysTyrSerPheGlnArgPheTyrThrSerTrpAsnGlnGluAlaThrSerHisLysSerGluArgGlnGlnGlnAsnLysGluLysCysProProSerAlaGlyGlnThrTyrSerGlnArgPhePheValProProThrPheLysSerValGlyAsnProValGluAlaArgArgTrpLeuArgGlnAlaArgAlaAsnPheSerAlaAlaArgAsnAspLeuHisLysAsnAlaAsnGluTrpValCysPheLysCysTyrLeuSerThrLysLeuAlaLeuIleAlaAlaAspTyrAlaValArgGlyLysSerAspLysAspValLysProThrAlaLeuAlaGlnLysIleGluGluTyrSerGlnGlnLeuGluGlyLeuThrAsnAspValHisThrLeuGluAlaTyrGlyValAspSerLeuLysThrArgTyrProAspLeuLeuProPheProGlnIleProAsnAspArgPheThrSerGluValAlaMetArgValMetGluCysThrAlaCysIleIleIleLysLeuGluAsnPheMetGlnGlnLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102048" }, { "coordinates": [ { "allele": "T", "end": 10943, "referenceAllele": "C", "start": 10942 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "XM_011535039.1:c.10822C>T" ], "proteinEffect": { "hgvs": "XP_011533341.1:p.Gln3608Ter", "hgvsWellDefined": "XP_011533341.1:p.Gln3608_Val4585delinsPheAlaLysGluIleSerValArgAlaAsnThrGluAsnTrpSerLysGluThrLeuGlnAsnThrValAspIleLeuLeuHisHisIlePheGlnGluArgMetAspLeuLeuSerGlyAsnPheLeuLysGluLeuSerLeuIleProPheLeuCysProGluArgAlaProAlaGluPheIleArgPheHisProGlnTyrGlnGluValAsnGlyThrLeuProLeuIleLysPheAsnGlyAlaGlnValAsnProLysPheLysGlnCysAspValLeuGlnLeuLeuTrpThrSerCysProIleLeuProGluLysAlaThrProLeuSerIleLysGluGlnGluGlySerAspLeuGlyProGlnGluGlnLeuGluGlnValLeuAsnMetLeuAsnValAsnLeuAspProProLeuAspLysValIleAsnAsnCysArgAsnIleCysAsnIleThrThrLeuAspGluGluMetValLysThrArgAlaLysValLeuArgSerIleTyrGluPheLeuSerAlaGluLysArgGluPheArgPheGlnLeuArgGlyValAlaPheValMetValGluAspGlyTrpLysLeuLeuLysProGluGluValValIleAsnLeuGluTyrGluSerAspPheLysProTyrLeuTyrLysLeuProLeuGluLeuGlyThrPheHisGlnLeuPheLysHisLeuGlyThrGluAspIleIleSerThrLysGlnTyrValGluValLeuSerArgIlePheLysAsnSerGluGlyLysGlnLeuAspProAsnGluMetArgThrValLysArgValValSerGlyLeuPheArgSerLeuGlnAsnAspSerValLysValArgSerAspLeuGluAsnValArgAspLeuAlaLeuTyrLeuProSerGlnAspGlyArgLeuValLysSerSerIleLeuValPheAspAspAlaProHisTyrLysSerArgIleGlnGlyAsnIleGlyValGlnMetLeuValAspLeuSerGlnCysTyrLeuGlyLysAspHisGlyPheHisThrLysLeuIleMetLeuPheProGlnLysLeuArgProArgLeuLeuSerSerIleLeuGluGluGlnLeuAspGluGluThrProLysValCysGlnPheGlyAlaLeuCysSerLeuGlnGlyArgLeuGlnLeuLeuLeuSerSerGluGlnPheIleThrGlyLeuIleArgIleMetLysHisGluAsnAspAsnAlaPheLeuAlaAsnGluGluLysAlaIleArgLeuCysLysAlaLeuArgGluGlyLeuLysValSerCysPheGluLysLeuGlnThrThrLeuArgValLysGlyPheAsnProIleProHisSerArgSerGluThrPheAlaPheLeuLysArgPheGlyAsnAlaValIleLeuLeuTyrIleGlnHisSerAspSerLysAspIleAsnPheLeuLeuAlaLeuAlaMetThrLeuLysSerAlaThrAspAsnLeuIleSerAspThrSerTyrLeuIleAlaMetLeuGlyCysAsnAspIleTyrArgIleGlyGluLysLeuAspSerLeuGlyValLysTyrAspSerSerGluProSerLysLeuGluLeuProMetProGlyThrProIleProAlaGluIleHisTyrThrLeuLeuMetAspProMetAsnValPheTyrProGlyGluTyrValGlyTyrLeuValAspAlaGluGlyGlyAspIleTyrGlySerTyrGlnProThrTyrThrTyrAlaIleIleValGlnGluValGluArgGluAspAlaAspAsnSerSerPheLeuGlyLysIleTyrGlnIleAspIleGlyTyrSerGluTyrLysIleValSerSerLeuAspLeuTyrLysPheSerArgProGluGluSerSerGlnSerArgAspSerAlaProSerThrProThrSerProThrGluPheLeuThrProGlyLeuArgSerIleProProLeuPheSerGlyArgGluSerHisLysThrSerSerLysHisGlnSerProLysLysLeuLysValAsnSerLeuProGluIleLeuLysGluValThrSerValValGluGlnAlaTrpLysLeuProGluSerGluArgLysLysIleIleArgArgLeuTyrLeuLysTrpHisProAspLysAsnProGluAsnHisAspIleAlaAsnGluValPheLysHisLeuGlnAsnGluIleAsnArgLeuGluLysGlnAlaPheLeuAspGlnAsnAlaAspArgAlaSerArgArgThrPheSerThrSerAlaSerArgPheGlnSerAspLysTyrSerPheGlnArgPheTyrThrSerTrpAsnGlnGluAlaThrSerHisLysSerGluArgGlnGlnGlnAsnLysGluLysCysProProSerAlaGlyGlnThrTyrSerGlnArgPhePheValProProThrPheLysSerValGlyAsnProValGluAlaArgArgTrpLeuArgGlnAlaArgAlaAsnPheSerAlaAlaArgAsnAspLeuHisLysAsnAlaAsnGluTrpValCysPheLysCysTyrLeuSerThrLysLeuAlaLeuIleAlaAlaAspTyrAlaValArgGlyLysSerAspLysAspValLysProThrAlaLeuAlaGlnLysIleGluGluTyrSerGlnGlnLeuGluGlyLeuThrAsnAspValHisThrLeuGluAlaTyrGlyValAspSerLeuLysThrArgTyrProAspLeuLeuProPheProGlnIleProAsnAspArgPheThrSerGluValAlaMetArgValMetGluCysThrAlaCysIleIleIleLysLeuGluAsnPheMetGlnGlnLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102049" }, { "coordinates": [ { "allele": "T", "end": 11446, "referenceAllele": "C", "start": 11445 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "XM_005266338.2:c.10831C>T" ], "proteinEffect": { "hgvs": "XP_005266395.1:p.Gln3611Ter", "hgvsWellDefined": "XP_005266395.1:p.Gln3611_Val4588delinsPheAlaLysGluIleSerValArgAlaAsnThrGluAsnTrpSerLysGluThrLeuGlnAsnThrValAspIleLeuLeuHisHisIlePheGlnGluArgMetAspLeuLeuSerGlyAsnPheLeuLysGluLeuSerLeuIleProPheLeuCysProGluArgAlaProAlaGluPheIleArgPheHisProGlnTyrGlnGluValAsnGlyThrLeuProLeuIleLysPheAsnGlyAlaGlnValAsnProLysPheLysGlnCysAspValLeuGlnLeuLeuTrpThrSerCysProIleLeuProGluLysAlaThrProLeuSerIleLysGluGlnGluGlySerAspLeuGlyProGlnGluGlnLeuGluGlnValLeuAsnMetLeuAsnValAsnLeuAspProProLeuAspLysValIleAsnAsnCysArgAsnIleCysAsnIleThrThrLeuAspGluGluMetValLysThrArgAlaLysValLeuArgSerIleTyrGluPheLeuSerAlaGluLysArgGluPheArgPheGlnLeuArgGlyValAlaPheValMetValGluAspGlyTrpLysLeuLeuLysProGluGluValValIleAsnLeuGluTyrGluSerAspPheLysProTyrLeuTyrLysLeuProLeuGluLeuGlyThrPheHisGlnLeuPheLysHisLeuGlyThrGluAspIleIleSerThrLysGlnTyrValGluValLeuSerArgIlePheLysAsnSerGluGlyLysGlnLeuAspProAsnGluMetArgThrValLysArgValValSerGlyLeuPheArgSerLeuGlnAsnAspSerValLysValArgSerAspLeuGluAsnValArgAspLeuAlaLeuTyrLeuProSerGlnAspGlyArgLeuValLysSerSerIleLeuValPheAspAspAlaProHisTyrLysSerArgIleGlnGlyAsnIleGlyValGlnMetLeuValAspLeuSerGlnCysTyrLeuGlyLysAspHisGlyPheHisThrLysLeuIleMetLeuPheProGlnLysLeuArgProArgLeuLeuSerSerIleLeuGluGluGlnLeuAspGluGluThrProLysValCysGlnPheGlyAlaLeuCysSerLeuGlnGlyArgLeuGlnLeuLeuLeuSerSerGluGlnPheIleThrGlyLeuIleArgIleMetLysHisGluAsnAspAsnAlaPheLeuAlaAsnGluGluLysAlaIleArgLeuCysLysAlaLeuArgGluGlyLeuLysValSerCysPheGluLysLeuGlnThrThrLeuArgValLysGlyPheAsnProIleProHisSerArgSerGluThrPheAlaPheLeuLysArgPheGlyAsnAlaValIleLeuLeuTyrIleGlnHisSerAspSerLysAspIleAsnPheLeuLeuAlaLeuAlaMetThrLeuLysSerAlaThrAspAsnLeuIleSerAspThrSerTyrLeuIleAlaMetLeuGlyCysAsnAspIleTyrArgIleGlyGluLysLeuAspSerLeuGlyValLysTyrAspSerSerGluProSerLysLeuGluLeuProMetProGlyThrProIleProAlaGluIleHisTyrThrLeuLeuMetAspProMetAsnValPheTyrProGlyGluTyrValGlyTyrLeuValAspAlaGluGlyGlyAspIleTyrGlySerTyrGlnProThrTyrThrTyrAlaIleIleValGlnGluValGluArgGluAspAlaAspAsnSerSerPheLeuGlyLysIleTyrGlnIleAspIleGlyTyrSerGluTyrLysIleValSerSerLeuAspLeuTyrLysPheSerArgProGluGluSerSerGlnSerArgAspSerAlaProSerThrProThrSerProThrGluPheLeuThrProGlyLeuArgSerIleProProLeuPheSerGlyArgGluSerHisLysThrSerSerLysHisGlnSerProLysLysLeuLysValAsnSerLeuProGluIleLeuLysGluValThrSerValValGluGlnAlaTrpLysLeuProGluSerGluArgLysLysIleIleArgArgLeuTyrLeuLysTrpHisProAspLysAsnProGluAsnHisAspIleAlaAsnGluValPheLysHisLeuGlnAsnGluIleAsnArgLeuGluLysGlnAlaPheLeuAspGlnAsnAlaAspArgAlaSerArgArgThrPheSerThrSerAlaSerArgPheGlnSerAspLysTyrSerPheGlnArgPheTyrThrSerTrpAsnGlnGluAlaThrSerHisLysSerGluArgGlnGlnGlnAsnLysGluLysCysProProSerAlaGlyGlnThrTyrSerGlnArgPhePheValProProThrPheLysSerValGlyAsnProValGluAlaArgArgTrpLeuArgGlnAlaArgAlaAsnPheSerAlaAlaArgAsnAspLeuHisLysAsnAlaAsnGluTrpValCysPheLysCysTyrLeuSerThrLysLeuAlaLeuIleAlaAlaAspTyrAlaValArgGlyLysSerAspLysAspValLysProThrAlaLeuAlaGlnLysIleGluGluTyrSerGlnGlnLeuGluGlyLeuThrAsnAspValHisThrLeuGluAlaTyrGlyValAspSerLeuLysThrArgTyrProAspLeuLeuProPheProGlnIleProAsnAspArgPheThrSerGluValAlaMetArgValMetGluCysThrAlaCysIleIleIleLysLeuGluAsnPheMetGlnGlnLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536218" }, { "coordinates": [ { "allele": "T", "end": 11054, "referenceAllele": "C", "start": 11053 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "XM_011535039.2:c.10822C>T" ], "proteinEffect": { "hgvs": "XP_011533341.1:p.Gln3608Ter", "hgvsWellDefined": "XP_011533341.1:p.Gln3608_Val4585delinsPheAlaLysGluIleSerValArgAlaAsnThrGluAsnTrpSerLysGluThrLeuGlnAsnThrValAspIleLeuLeuHisHisIlePheGlnGluArgMetAspLeuLeuSerGlyAsnPheLeuLysGluLeuSerLeuIleProPheLeuCysProGluArgAlaProAlaGluPheIleArgPheHisProGlnTyrGlnGluValAsnGlyThrLeuProLeuIleLysPheAsnGlyAlaGlnValAsnProLysPheLysGlnCysAspValLeuGlnLeuLeuTrpThrSerCysProIleLeuProGluLysAlaThrProLeuSerIleLysGluGlnGluGlySerAspLeuGlyProGlnGluGlnLeuGluGlnValLeuAsnMetLeuAsnValAsnLeuAspProProLeuAspLysValIleAsnAsnCysArgAsnIleCysAsnIleThrThrLeuAspGluGluMetValLysThrArgAlaLysValLeuArgSerIleTyrGluPheLeuSerAlaGluLysArgGluPheArgPheGlnLeuArgGlyValAlaPheValMetValGluAspGlyTrpLysLeuLeuLysProGluGluValValIleAsnLeuGluTyrGluSerAspPheLysProTyrLeuTyrLysLeuProLeuGluLeuGlyThrPheHisGlnLeuPheLysHisLeuGlyThrGluAspIleIleSerThrLysGlnTyrValGluValLeuSerArgIlePheLysAsnSerGluGlyLysGlnLeuAspProAsnGluMetArgThrValLysArgValValSerGlyLeuPheArgSerLeuGlnAsnAspSerValLysValArgSerAspLeuGluAsnValArgAspLeuAlaLeuTyrLeuProSerGlnAspGlyArgLeuValLysSerSerIleLeuValPheAspAspAlaProHisTyrLysSerArgIleGlnGlyAsnIleGlyValGlnMetLeuValAspLeuSerGlnCysTyrLeuGlyLysAspHisGlyPheHisThrLysLeuIleMetLeuPheProGlnLysLeuArgProArgLeuLeuSerSerIleLeuGluGluGlnLeuAspGluGluThrProLysValCysGlnPheGlyAlaLeuCysSerLeuGlnGlyArgLeuGlnLeuLeuLeuSerSerGluGlnPheIleThrGlyLeuIleArgIleMetLysHisGluAsnAspAsnAlaPheLeuAlaAsnGluGluLysAlaIleArgLeuCysLysAlaLeuArgGluGlyLeuLysValSerCysPheGluLysLeuGlnThrThrLeuArgValLysGlyPheAsnProIleProHisSerArgSerGluThrPheAlaPheLeuLysArgPheGlyAsnAlaValIleLeuLeuTyrIleGlnHisSerAspSerLysAspIleAsnPheLeuLeuAlaLeuAlaMetThrLeuLysSerAlaThrAspAsnLeuIleSerAspThrSerTyrLeuIleAlaMetLeuGlyCysAsnAspIleTyrArgIleGlyGluLysLeuAspSerLeuGlyValLysTyrAspSerSerGluProSerLysLeuGluLeuProMetProGlyThrProIleProAlaGluIleHisTyrThrLeuLeuMetAspProMetAsnValPheTyrProGlyGluTyrValGlyTyrLeuValAspAlaGluGlyGlyAspIleTyrGlySerTyrGlnProThrTyrThrTyrAlaIleIleValGlnGluValGluArgGluAspAlaAspAsnSerSerPheLeuGlyLysIleTyrGlnIleAspIleGlyTyrSerGluTyrLysIleValSerSerLeuAspLeuTyrLysPheSerArgProGluGluSerSerGlnSerArgAspSerAlaProSerThrProThrSerProThrGluPheLeuThrProGlyLeuArgSerIleProProLeuPheSerGlyArgGluSerHisLysThrSerSerLysHisGlnSerProLysLysLeuLysValAsnSerLeuProGluIleLeuLysGluValThrSerValValGluGlnAlaTrpLysLeuProGluSerGluArgLysLysIleIleArgArgLeuTyrLeuLysTrpHisProAspLysAsnProGluAsnHisAspIleAlaAsnGluValPheLysHisLeuGlnAsnGluIleAsnArgLeuGluLysGlnAlaPheLeuAspGlnAsnAlaAspArgAlaSerArgArgThrPheSerThrSerAlaSerArgPheGlnSerAspLysTyrSerPheGlnArgPheTyrThrSerTrpAsnGlnGluAlaThrSerHisLysSerGluArgGlnGlnGlnAsnLysGluLysCysProProSerAlaGlyGlnThrTyrSerGlnArgPhePheValProProThrPheLysSerValGlyAsnProValGluAlaArgArgTrpLeuArgGlnAlaArgAlaAsnPheSerAlaAlaArgAsnAspLeuHisLysAsnAlaAsnGluTrpValCysPheLysCysTyrLeuSerThrLysLeuAlaLeuIleAlaAlaAspTyrAlaValArgGlyLysSerAspLysAspValLysProThrAlaLeuAlaGlnLysIleGluGluTyrSerGlnGlnLeuGluGlyLeuThrAsnAspValHisThrLeuGluAlaTyrGlyValAspSerLeuLysThrArgTyrProAspLeuLeuProPheProGlnIleProAsnAspArgPheThrSerGluValAlaMetArgValMetGluCysThrAlaCysIleIleIleLysLeuGluAsnPheMetGlnGlnLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS551886" }, { "coordinates": [ { "allele": "T", "end": 11027, "referenceAllele": "C", "start": 11026 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "XM_017020539.1:c.10795C>T" ], "proteinEffect": { "hgvs": "XP_016876028.1:p.Gln3599Ter", "hgvsWellDefined": "XP_016876028.1:p.Gln3599_Val4576delinsPheAlaLysGluIleSerValArgAlaAsnThrGluAsnTrpSerLysGluThrLeuGlnAsnThrValAspIleLeuLeuHisHisIlePheGlnGluArgMetAspLeuLeuSerGlyAsnPheLeuLysGluLeuSerLeuIleProPheLeuCysProGluArgAlaProAlaGluPheIleArgPheHisProGlnTyrGlnGluValAsnGlyThrLeuProLeuIleLysPheAsnGlyAlaGlnValAsnProLysPheLysGlnCysAspValLeuGlnLeuLeuTrpThrSerCysProIleLeuProGluLysAlaThrProLeuSerIleLysGluGlnGluGlySerAspLeuGlyProGlnGluGlnLeuGluGlnValLeuAsnMetLeuAsnValAsnLeuAspProProLeuAspLysValIleAsnAsnCysArgAsnIleCysAsnIleThrThrLeuAspGluGluMetValLysThrArgAlaLysValLeuArgSerIleTyrGluPheLeuSerAlaGluLysArgGluPheArgPheGlnLeuArgGlyValAlaPheValMetValGluAspGlyTrpLysLeuLeuLysProGluGluValValIleAsnLeuGluTyrGluSerAspPheLysProTyrLeuTyrLysLeuProLeuGluLeuGlyThrPheHisGlnLeuPheLysHisLeuGlyThrGluAspIleIleSerThrLysGlnTyrValGluValLeuSerArgIlePheLysAsnSerGluGlyLysGlnLeuAspProAsnGluMetArgThrValLysArgValValSerGlyLeuPheArgSerLeuGlnAsnAspSerValLysValArgSerAspLeuGluAsnValArgAspLeuAlaLeuTyrLeuProSerGlnAspGlyArgLeuValLysSerSerIleLeuValPheAspAspAlaProHisTyrLysSerArgIleGlnGlyAsnIleGlyValGlnMetLeuValAspLeuSerGlnCysTyrLeuGlyLysAspHisGlyPheHisThrLysLeuIleMetLeuPheProGlnLysLeuArgProArgLeuLeuSerSerIleLeuGluGluGlnLeuAspGluGluThrProLysValCysGlnPheGlyAlaLeuCysSerLeuGlnGlyArgLeuGlnLeuLeuLeuSerSerGluGlnPheIleThrGlyLeuIleArgIleMetLysHisGluAsnAspAsnAlaPheLeuAlaAsnGluGluLysAlaIleArgLeuCysLysAlaLeuArgGluGlyLeuLysValSerCysPheGluLysLeuGlnThrThrLeuArgValLysGlyPheAsnProIleProHisSerArgSerGluThrPheAlaPheLeuLysArgPheGlyAsnAlaValIleLeuLeuTyrIleGlnHisSerAspSerLysAspIleAsnPheLeuLeuAlaLeuAlaMetThrLeuLysSerAlaThrAspAsnLeuIleSerAspThrSerTyrLeuIleAlaMetLeuGlyCysAsnAspIleTyrArgIleGlyGluLysLeuAspSerLeuGlyValLysTyrAspSerSerGluProSerLysLeuGluLeuProMetProGlyThrProIleProAlaGluIleHisTyrThrLeuLeuMetAspProMetAsnValPheTyrProGlyGluTyrValGlyTyrLeuValAspAlaGluGlyGlyAspIleTyrGlySerTyrGlnProThrTyrThrTyrAlaIleIleValGlnGluValGluArgGluAspAlaAspAsnSerSerPheLeuGlyLysIleTyrGlnIleAspIleGlyTyrSerGluTyrLysIleValSerSerLeuAspLeuTyrLysPheSerArgProGluGluSerSerGlnSerArgAspSerAlaProSerThrProThrSerProThrGluPheLeuThrProGlyLeuArgSerIleProProLeuPheSerGlyArgGluSerHisLysThrSerSerLysHisGlnSerProLysLysLeuLysValAsnSerLeuProGluIleLeuLysGluValThrSerValValGluGlnAlaTrpLysLeuProGluSerGluArgLysLysIleIleArgArgLeuTyrLeuLysTrpHisProAspLysAsnProGluAsnHisAspIleAlaAsnGluValPheLysHisLeuGlnAsnGluIleAsnArgLeuGluLysGlnAlaPheLeuAspGlnAsnAlaAspArgAlaSerArgArgThrPheSerThrSerAlaSerArgPheGlnSerAspLysTyrSerPheGlnArgPheTyrThrSerTrpAsnGlnGluAlaThrSerHisLysSerGluArgGlnGlnGlnAsnLysGluLysCysProProSerAlaGlyGlnThrTyrSerGlnArgPhePheValProProThrPheLysSerValGlyAsnProValGluAlaArgArgTrpLeuArgGlnAlaArgAlaAsnPheSerAlaAlaArgAsnAspLeuHisLysAsnAlaAsnGluTrpValCysPheLysCysTyrLeuSerThrLysLeuAlaLeuIleAlaAlaAspTyrAlaValArgGlyLysSerAspLysAspValLysProThrAlaLeuAlaGlnLysIleGluGluTyrSerGlnGlnLeuGluGlyLeuThrAsnAspValHisThrLeuGluAlaTyrGlyValAspSerLeuLysThrArgTyrProAspLeuLeuProPheProGlnIleProAsnAspArgPheThrSerGluValAlaMetArgValMetGluCysThrAlaCysIleIleIleLysLeuGluAsnPheMetGlnGlnLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572005" }, { "coordinates": [ { "allele": "T", "end": 11470, "referenceAllele": "C", "start": 11469 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "XM_024449337.1:c.10831C>T" ], "proteinEffect": { "hgvs": "XP_024305105.1:p.Gln3611Ter", "hgvsWellDefined": "XP_024305105.1:p.Gln3611_Val4588delinsPheAlaLysGluIleSerValArgAlaAsnThrGluAsnTrpSerLysGluThrLeuGlnAsnThrValAspIleLeuLeuHisHisIlePheGlnGluArgMetAspLeuLeuSerGlyAsnPheLeuLysGluLeuSerLeuIleProPheLeuCysProGluArgAlaProAlaGluPheIleArgPheHisProGlnTyrGlnGluValAsnGlyThrLeuProLeuIleLysPheAsnGlyAlaGlnValAsnProLysPheLysGlnCysAspValLeuGlnLeuLeuTrpThrSerCysProIleLeuProGluLysAlaThrProLeuSerIleLysGluGlnGluGlySerAspLeuGlyProGlnGluGlnLeuGluGlnValLeuAsnMetLeuAsnValAsnLeuAspProProLeuAspLysValIleAsnAsnCysArgAsnIleCysAsnIleThrThrLeuAspGluGluMetValLysThrArgAlaLysValLeuArgSerIleTyrGluPheLeuSerAlaGluLysArgGluPheArgPheGlnLeuArgGlyValAlaPheValMetValGluAspGlyTrpLysLeuLeuLysProGluGluValValIleAsnLeuGluTyrGluSerAspPheLysProTyrLeuTyrLysLeuProLeuGluLeuGlyThrPheHisGlnLeuPheLysHisLeuGlyThrGluAspIleIleSerThrLysGlnTyrValGluValLeuSerArgIlePheLysAsnSerGluGlyLysGlnLeuAspProAsnGluMetArgThrValLysArgValValSerGlyLeuPheArgSerLeuGlnAsnAspSerValLysValArgSerAspLeuGluAsnValArgAspLeuAlaLeuTyrLeuProSerGlnAspGlyArgLeuValLysSerSerIleLeuValPheAspAspAlaProHisTyrLysSerArgIleGlnGlyAsnIleGlyValGlnMetLeuValAspLeuSerGlnCysTyrLeuGlyLysAspHisGlyPheHisThrLysLeuIleMetLeuPheProGlnLysLeuArgProArgLeuLeuSerSerIleLeuGluGluGlnLeuAspGluGluThrProLysValCysGlnPheGlyAlaLeuCysSerLeuGlnGlyArgLeuGlnLeuLeuLeuSerSerGluGlnPheIleThrGlyLeuIleArgIleMetLysHisGluAsnAspAsnAlaPheLeuAlaAsnGluGluLysAlaIleArgLeuCysLysAlaLeuArgGluGlyLeuLysValSerCysPheGluLysLeuGlnThrThrLeuArgValLysGlyPheAsnProIleProHisSerArgSerGluThrPheAlaPheLeuLysArgPheGlyAsnAlaValIleLeuLeuTyrIleGlnHisSerAspSerLysAspIleAsnPheLeuLeuAlaLeuAlaMetThrLeuLysSerAlaThrAspAsnLeuIleSerAspThrSerTyrLeuIleAlaMetLeuGlyCysAsnAspIleTyrArgIleGlyGluLysLeuAspSerLeuGlyValLysTyrAspSerSerGluProSerLysLeuGluLeuProMetProGlyThrProIleProAlaGluIleHisTyrThrLeuLeuMetAspProMetAsnValPheTyrProGlyGluTyrValGlyTyrLeuValAspAlaGluGlyGlyAspIleTyrGlySerTyrGlnProThrTyrThrTyrAlaIleIleValGlnGluValGluArgGluAspAlaAspAsnSerSerPheLeuGlyLysIleTyrGlnIleAspIleGlyTyrSerGluTyrLysIleValSerSerLeuAspLeuTyrLysPheSerArgProGluGluSerSerGlnSerArgAspSerAlaProSerThrProThrSerProThrGluPheLeuThrProGlyLeuArgSerIleProProLeuPheSerGlyArgGluSerHisLysThrSerSerLysHisGlnSerProLysLysLeuLysValAsnSerLeuProGluIleLeuLysGluValThrSerValValGluGlnAlaTrpLysLeuProGluSerGluArgLysLysIleIleArgArgLeuTyrLeuLysTrpHisProAspLysAsnProGluAsnHisAspIleAlaAsnGluValPheLysHisLeuGlnAsnGluIleAsnArgLeuGluLysGlnAlaPheLeuAspGlnAsnAlaAspArgAlaSerArgArgThrPheSerThrSerAlaSerArgPheGlnSerAspLysTyrSerPheGlnArgPheTyrThrSerTrpAsnGlnGluAlaThrSerHisLysSerGluArgGlnGlnGlnAsnLysGluLysCysProProSerAlaGlyGlnThrTyrSerGlnArgPhePheValProProThrPheLysSerValGlyAsnProValGluAlaArgArgTrpLeuArgGlnAlaArgAlaAsnPheSerAlaAlaArgAsnAspLeuHisLysAsnAlaAsnGluTrpValCysPheLysCysTyrLeuSerThrLysLeuAlaLeuIleAlaAlaAspTyrAlaValArgGlyLysSerAspLysAspValLysProThrAlaLeuAlaGlnLysIleGluGluTyrSerGlnGlnLeuGluGlyLeuThrAsnAspValHisThrLeuGluAlaTyrGlyValAspSerLeuLysThrArgTyrProAspLeuLeuProPheProGlnIleProAsnAspArgPheThrSerGluValAlaMetArgValMetGluCysThrAlaCysIleIleIleLysLeuGluAsnPheMetGlnGlnLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582894" }, { "@id": "http://reg.genome.network/allele/PA645437645", "coordinates": [ { "allele": "T", "end": 11393, "referenceAllele": "C", "start": 11392 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "NM_014363.6:c.10804C>T" ], "proteinEffect": { "hgvs": "NP_055178.3:p.Gln3602Ter", "hgvsWellDefined": "NP_055178.3:p.Gln3602_Val4579delinsPheAlaLysGluIleSerValArgAlaAsnThrGluAsnTrpSerLysGluThrLeuGlnAsnThrValAspIleLeuLeuHisHisIlePheGlnGluArgMetAspLeuLeuSerGlyAsnPheLeuLysGluLeuSerLeuIleProPheLeuCysProGluArgAlaProAlaGluPheIleArgPheHisProGlnTyrGlnGluValAsnGlyThrLeuProLeuIleLysPheAsnGlyAlaGlnValAsnProLysPheLysGlnCysAspValLeuGlnLeuLeuTrpThrSerCysProIleLeuProGluLysAlaThrProLeuSerIleLysGluGlnGluGlySerAspLeuGlyProGlnGluGlnLeuGluGlnValLeuAsnMetLeuAsnValAsnLeuAspProProLeuAspLysValIleAsnAsnCysArgAsnIleCysAsnIleThrThrLeuAspGluGluMetValLysThrArgAlaLysValLeuArgSerIleTyrGluPheLeuSerAlaGluLysArgGluPheArgPheGlnLeuArgGlyValAlaPheValMetValGluAspGlyTrpLysLeuLeuLysProGluGluValValIleAsnLeuGluTyrGluSerAspPheLysProTyrLeuTyrLysLeuProLeuGluLeuGlyThrPheHisGlnLeuPheLysHisLeuGlyThrGluAspIleIleSerThrLysGlnTyrValGluValLeuSerArgIlePheLysAsnSerGluGlyLysGlnLeuAspProAsnGluMetArgThrValLysArgValValSerGlyLeuPheArgSerLeuGlnAsnAspSerValLysValArgSerAspLeuGluAsnValArgAspLeuAlaLeuTyrLeuProSerGlnAspGlyArgLeuValLysSerSerIleLeuValPheAspAspAlaProHisTyrLysSerArgIleGlnGlyAsnIleGlyValGlnMetLeuValAspLeuSerGlnCysTyrLeuGlyLysAspHisGlyPheHisThrLysLeuIleMetLeuPheProGlnLysLeuArgProArgLeuLeuSerSerIleLeuGluGluGlnLeuAspGluGluThrProLysValCysGlnPheGlyAlaLeuCysSerLeuGlnGlyArgLeuGlnLeuLeuLeuSerSerGluGlnPheIleThrGlyLeuIleArgIleMetLysHisGluAsnAspAsnAlaPheLeuAlaAsnGluGluLysAlaIleArgLeuCysLysAlaLeuArgGluGlyLeuLysValSerCysPheGluLysLeuGlnThrThrLeuArgValLysGlyPheAsnProIleProHisSerArgSerGluThrPheAlaPheLeuLysArgPheGlyAsnAlaValIleLeuLeuTyrIleGlnHisSerAspSerLysAspIleAsnPheLeuLeuAlaLeuAlaMetThrLeuLysSerAlaThrAspAsnLeuIleSerAspThrSerTyrLeuIleAlaMetLeuGlyCysAsnAspIleTyrArgIleGlyGluLysLeuAspSerLeuGlyValLysTyrAspSerSerGluProSerLysLeuGluLeuProMetProGlyThrProIleProAlaGluIleHisTyrThrLeuLeuMetAspProMetAsnValPheTyrProGlyGluTyrValGlyTyrLeuValAspAlaGluGlyGlyAspIleTyrGlySerTyrGlnProThrTyrThrTyrAlaIleIleValGlnGluValGluArgGluAspAlaAspAsnSerSerPheLeuGlyLysIleTyrGlnIleAspIleGlyTyrSerGluTyrLysIleValSerSerLeuAspLeuTyrLysPheSerArgProGluGluSerSerGlnSerArgAspSerAlaProSerThrProThrSerProThrGluPheLeuThrProGlyLeuArgSerIleProProLeuPheSerGlyArgGluSerHisLysThrSerSerLysHisGlnSerProLysLysLeuLysValAsnSerLeuProGluIleLeuLysGluValThrSerValValGluGlnAlaTrpLysLeuProGluSerGluArgLysLysIleIleArgArgLeuTyrLeuLysTrpHisProAspLysAsnProGluAsnHisAspIleAlaAsnGluValPheLysHisLeuGlnAsnGluIleAsnArgLeuGluLysGlnAlaPheLeuAspGlnAsnAlaAspArgAlaSerArgArgThrPheSerThrSerAlaSerArgPheGlnSerAspLysTyrSerPheGlnArgPheTyrThrSerTrpAsnGlnGluAlaThrSerHisLysSerGluArgGlnGlnGlnAsnLysGluLysCysProProSerAlaGlyGlnThrTyrSerGlnArgPhePheValProProThrPheLysSerValGlyAsnProValGluAlaArgArgTrpLeuArgGlnAlaArgAlaAsnPheSerAlaAlaArgAsnAspLeuHisLysAsnAlaAsnGluTrpValCysPheLysCysTyrLeuSerThrLysLeuAlaLeuIleAlaAlaAspTyrAlaValArgGlyLysSerAspLysAspValLysProThrAlaLeuAlaGlnLysIleGluGluTyrSerGlnGlnLeuGluGlyLeuThrAsnAspValHisThrLeuGluAlaTyrGlyValAspSerLeuLysThrArgTyrProAspLeuLeuProPheProGlnIleProAsnAspArgPheThrSerGluValAlaMetArgValMetGluCysThrAlaCysIleIleIleLysLeuGluAsnPheMetGlnGlnLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS668309", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000382292.9:c.10804C>T" }, "RefSeq": { "hgvs": "NM_014363.6:c.10804C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000371729.3:p.Gln3602Ter" }, "RefSeq": { "hgvs": "NP_055178.3:p.Gln3602Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826578322", "coordinates": [ { "allele": "T", "end": 10853, "referenceAllele": "C", "start": 10852 } ], "gene": "http://reg.genome.network/gene/GN010519", "geneNCBI_id": 26278, "geneSymbol": "SACS", "hgvs": [ "NM_001278055.2:c.10363C>T" ], "proteinEffect": { "hgvs": "NP_001264984.1:p.Gln3455Ter", "hgvsWellDefined": "NP_001264984.1:p.Gln3455_Val4432delinsPheAlaLysGluIleSerValArgAlaAsnThrGluAsnTrpSerLysGluThrLeuGlnAsnThrValAspIleLeuLeuHisHisIlePheGlnGluArgMetAspLeuLeuSerGlyAsnPheLeuLysGluLeuSerLeuIleProPheLeuCysProGluArgAlaProAlaGluPheIleArgPheHisProGlnTyrGlnGluValAsnGlyThrLeuProLeuIleLysPheAsnGlyAlaGlnValAsnProLysPheLysGlnCysAspValLeuGlnLeuLeuTrpThrSerCysProIleLeuProGluLysAlaThrProLeuSerIleLysGluGlnGluGlySerAspLeuGlyProGlnGluGlnLeuGluGlnValLeuAsnMetLeuAsnValAsnLeuAspProProLeuAspLysValIleAsnAsnCysArgAsnIleCysAsnIleThrThrLeuAspGluGluMetValLysThrArgAlaLysValLeuArgSerIleTyrGluPheLeuSerAlaGluLysArgGluPheArgPheGlnLeuArgGlyValAlaPheValMetValGluAspGlyTrpLysLeuLeuLysProGluGluValValIleAsnLeuGluTyrGluSerAspPheLysProTyrLeuTyrLysLeuProLeuGluLeuGlyThrPheHisGlnLeuPheLysHisLeuGlyThrGluAspIleIleSerThrLysGlnTyrValGluValLeuSerArgIlePheLysAsnSerGluGlyLysGlnLeuAspProAsnGluMetArgThrValLysArgValValSerGlyLeuPheArgSerLeuGlnAsnAspSerValLysValArgSerAspLeuGluAsnValArgAspLeuAlaLeuTyrLeuProSerGlnAspGlyArgLeuValLysSerSerIleLeuValPheAspAspAlaProHisTyrLysSerArgIleGlnGlyAsnIleGlyValGlnMetLeuValAspLeuSerGlnCysTyrLeuGlyLysAspHisGlyPheHisThrLysLeuIleMetLeuPheProGlnLysLeuArgProArgLeuLeuSerSerIleLeuGluGluGlnLeuAspGluGluThrProLysValCysGlnPheGlyAlaLeuCysSerLeuGlnGlyArgLeuGlnLeuLeuLeuSerSerGluGlnPheIleThrGlyLeuIleArgIleMetLysHisGluAsnAspAsnAlaPheLeuAlaAsnGluGluLysAlaIleArgLeuCysLysAlaLeuArgGluGlyLeuLysValSerCysPheGluLysLeuGlnThrThrLeuArgValLysGlyPheAsnProIleProHisSerArgSerGluThrPheAlaPheLeuLysArgPheGlyAsnAlaValIleLeuLeuTyrIleGlnHisSerAspSerLysAspIleAsnPheLeuLeuAlaLeuAlaMetThrLeuLysSerAlaThrAspAsnLeuIleSerAspThrSerTyrLeuIleAlaMetLeuGlyCysAsnAspIleTyrArgIleGlyGluLysLeuAspSerLeuGlyValLysTyrAspSerSerGluProSerLysLeuGluLeuProMetProGlyThrProIleProAlaGluIleHisTyrThrLeuLeuMetAspProMetAsnValPheTyrProGlyGluTyrValGlyTyrLeuValAspAlaGluGlyGlyAspIleTyrGlySerTyrGlnProThrTyrThrTyrAlaIleIleValGlnGluValGluArgGluAspAlaAspAsnSerSerPheLeuGlyLysIleTyrGlnIleAspIleGlyTyrSerGluTyrLysIleValSerSerLeuAspLeuTyrLysPheSerArgProGluGluSerSerGlnSerArgAspSerAlaProSerThrProThrSerProThrGluPheLeuThrProGlyLeuArgSerIleProProLeuPheSerGlyArgGluSerHisLysThrSerSerLysHisGlnSerProLysLysLeuLysValAsnSerLeuProGluIleLeuLysGluValThrSerValValGluGlnAlaTrpLysLeuProGluSerGluArgLysLysIleIleArgArgLeuTyrLeuLysTrpHisProAspLysAsnProGluAsnHisAspIleAlaAsnGluValPheLysHisLeuGlnAsnGluIleAsnArgLeuGluLysGlnAlaPheLeuAspGlnAsnAlaAspArgAlaSerArgArgThrPheSerThrSerAlaSerArgPheGlnSerAspLysTyrSerPheGlnArgPheTyrThrSerTrpAsnGlnGluAlaThrSerHisLysSerGluArgGlnGlnGlnAsnLysGluLysCysProProSerAlaGlyGlnThrTyrSerGlnArgPhePheValProProThrPheLysSerValGlyAsnProValGluAlaArgArgTrpLeuArgGlnAlaArgAlaAsnPheSerAlaAlaArgAsnAspLeuHisLysAsnAlaAsnGluTrpValCysPheLysCysTyrLeuSerThrLysLeuAlaLeuIleAlaAlaAspTyrAlaValArgGlyLysSerAspLysAspValLysProThrAlaLeuAlaGlnLysIleGluGluTyrSerGlnGlnLeuGluGlyLeuThrAsnAspValHisThrLeuGluAlaTyrGlyValAspSerLeuLysThrArgTyrProAspLeuLeuProPheProGlnIleProAsnAspArgPheThrSerGluValAlaMetArgValMetGluCysThrAlaCysIleIleIleLysLeuGluAsnPheMetGlnGlnLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681389" } ], "type": "nucleotide" }