{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA393447885", "communityStandardTitle": [ "NM_001145358.2(SIN3A):c.866C>A (p.Ser289Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=919597[alleleid]", "alleleId": 919597, "preferredName": "NM_001145358.2(SIN3A):c.866C>A (p.Ser289Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/930683", "RCV": [ "RCV001196526" ], "variationId": 930683 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.75703975G>T?assembly=hg19", "id": "chr15:g.75703975G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.75411634G>T?assembly=hg38", "id": "chr15:g.75411634G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1347764887", "rs": 1347764887 } ] }, "genomicAlleles": [ { "chromosome": "15", "coordinates": [ { "allele": "T", "end": 75411634, "referenceAllele": "G", "start": 75411633 } ], "hgvs": [ "NC_000015.10:g.75411634G>T", "CM000677.2:g.75411634G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000063" }, { "chromosome": "15", "coordinates": [ { "allele": "T", "end": 75703975, "referenceAllele": "G", "start": 75703974 } ], "hgvs": [ "NC_000015.9:g.75703975G>T", "CM000677.1:g.75703975G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000039" }, { "chromosome": "15", "coordinates": [ { "allele": "T", "end": 73491028, "referenceAllele": "G", "start": 73491027 } ], "hgvs": [ "NC_000015.8:g.73491028G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000015" }, { "coordinates": [ { "allele": "A", "end": 49150, "referenceAllele": "C", "start": 49149 } ], "hgvs": [ "NG_052855.1:g.49150C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS617222" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 954, "referenceAllele": "C", "start": 953 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "ENST00000564778.6:c.866C>A" ], "proteinEffect": { "hgvs": "ENSP00000455204.2:p.Ser289Ter", "hgvsWellDefined": "ENSP00000455204.2:p.Ser289_Pro1273delinsLeuGlyThrAlaProSerLeuGlnAsnAsnGlnProValGluPheAsnHisAlaIleAsnTyrValAsnLysIleLysAsnArgPheGlnGlyGlnProAspIleTyrLysAlaPheLeuGluIleLeuHisThrTyrGlnLysGluGlnArgAsnAlaLysGluAlaGlyGlyAsnTyrThrProAlaLeuThrGluGlnGluValTyrAlaGlnValAlaArgLeuPheLysAsnGlnGluAspLeuLeuSerGluPheGlyGlnPheLeuProAspAlaAsnSerSerValLeuLeuSerLysThrThrAlaGluLysValAspSerValArgAsnAspHisGlyGlyThrValLysLysProGlnLeuAsnAsnLysProGlnArgProSerGlnAsnGlyCysGlnIleArgArgHisProThrGlyThrThrProProValLysLysLysProLysLeuLeuAsnLeuLysAspSerSerMetAlaAspAlaSerLysHisGlyGlyGlyThrGluSerLeuPhePheAspLysValArgLysAlaLeuArgSerAlaGluAlaTyrGluAsnPheLeuArgCysLeuValIlePheAsnGlnGluValIleSerArgAlaGluLeuValGlnLeuValSerProPheLeuGlyLysPheProGluLeuPheAsnTrpPheLysAsnPheLeuGlyTyrLysGluSerValHisLeuGluThrTyrProLysGluArgAlaThrGluGlyIleAlaMetGluIleAspTyrAlaSerCysLysArgLeuGlySerSerTyrArgAlaLeuProLysSerTyrGlnGlnProLysCysThrGlyArgThrProLeuCysLysGluValLeuAsnAspThrTrpValSerPheProSerTrpSerGluAspSerThrPheValSerSerLysLysThrGlnTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS905944" }, { "coordinates": [ { "allele": "A", "end": 1321, "referenceAllele": "C", "start": 1320 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "ENST00000565264.2:c.866C>A" ], "proteinEffect": { "hgvs": "ENSP00000454296.2:p.Ser289Ter", "hgvsWellDefined": "ENSP00000454296.2:p.Ser289_Pro1273delinsLeuGlyThrAlaProSerLeuGlnAsnAsnGlnProValGluPheAsnHisAlaIleAsnTyrValAsnLysIleLysAsnArgPheGlnGlyGlnProAspIleTyrLysAlaPheLeuGluIleLeuHisThrTyrGlnLysGluGlnArgAsnAlaLysGluAlaGlyGlyAsnTyrThrProAlaLeuThrGluGlnGluValTyrAlaGlnValAlaArgLeuPheLysAsnGlnGluAspLeuLeuSerGluPheGlyGlnPheLeuProAspAlaAsnSerSerValLeuLeuSerLysThrThrAlaGluLysValAspSerValArgAsnAspHisGlyGlyThrValLysLysProGlnLeuAsnAsnLysProGlnArgProSerGlnAsnGlyCysGlnIleArgArgHisProThrGlyThrThrProProValLysLysLysProLysLeuLeuAsnLeuLysAspSerSerMetAlaAspAlaSerLysHisGlyGlyGlyThrGluSerLeuPhePheAspLysValArgLysAlaLeuArgSerAlaGluAlaTyrGluAsnPheLeuArgCysLeuValIlePheAsnGlnGluValIleSerArgAlaGluLeuValGlnLeuValSerProPheLeuGlyLysPheProGluLeuPheAsnTrpPheLysAsnPheLeuGlyTyrLysGluSerValHisLeuGluThrTyrProLysGluArgAlaThrGluGlyIleAlaMetGluIleAspTyrAlaSerCysLysArgLeuGlySerSerTyrArgAlaLeuProLysSerTyrGlnGlnProLysCysThrGlyArgThrProLeuCysLysGluValLeuAsnAspThrTrpValSerPheProSerTrpSerGluAspSerThrPheValSerSerLysLysThrGlnTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS905948" }, { "coordinates": [ { "allele": "A", "end": 188, "referenceAllele": "C", "start": 187 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "ENST00000704302.1:c.188C>A" ], "proteinEffect": { "hgvs": "ENSP00000515826.1:p.Ser63Ter", "hgvsWellDefined": "ENSP00000515826.1:p.Ser63_Ile922delinsLeuGlyThrAlaProSerLeuGlnAsnAsnGlnProValGluPheAsnHisAlaIleAsnTyrValAsnLysIleLysAsnArgPheGlnGlyGlnProAspIleTyrLysAlaPheLeuGluIleLeuHisThrTyrGlnLysGluGlnArgAsnAlaLysGluAlaGlyGlyAsnTyrThrProAlaLeuThrGluGlnGluValTyrAlaGlnValAlaArgLeuPheLysAsnGlnGluAspLeuLeuSerGluPheGlyGlnPheLeuProAspAlaAsnSerSerValLeuLeuSerLysThrThrAlaGluLysValAspSerValArgAsnAspHisGlyGlyThrValLysLysProGlnLeuAsnAsnLysProGlnArgProSerGlnAsnGlyCysGlnIleArgArgHisProThrGlyThrThrProProValLysLysLysProLysLeuLeuAsnLeuLysAspSerSerMetAlaAspAlaSerLysHisGlyGlyGlyThrGluSerLeuPhePheAspLysValArgLysAlaLeuArgSerAlaGluAlaTyrGluAsnPheLeuArgCysLeuValIlePheAsnGlnGluValIleSerArgAlaGluLeuValGlnLeuValSerProPheLeuGlyLysPheProGluLeuPheAsnTrpPheLysAsnPheLeuGlyTyrLysGluSerValHisLeuGluThrTyrProLysGluArgAlaThrGluGlyIleAlaMetGluIleAspTyrAlaSerCysLysArgLeuGlySerSerTyrArgAlaLeuProLysSerTyrGlnGlnProLysCysThrGlyArgThrProLeuCysLysGluValLeuAsnAspThrTrpValSerPheProSerTrpSerGluAspSerThrPheValSerSerLysLysThrGlnTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProSerGluThrThrGluHisLeuCysMetTyrLeuThrAsnTrpAspGluTyrTyrAlaSerIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS912227" }, { "coordinates": [ { "allele": "A", "end": 1225, "referenceAllele": "C", "start": 1224 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "ENST00000704304.1:c.*820C>A" ], "proteinEffect": { "hgvs": "ENSP00000515828.1:n.*820C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS912229" }, { "coordinates": [ { "allele": "A", "end": 976, "referenceAllele": "C", "start": 975 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "ENST00000704305.1:c.976C>A" ], "proteinEffect": { "hgvs": "ENSP00000515829.1:n.976C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS912230" }, { "coordinates": [ { "allele": "A", "end": 866, "referenceAllele": "C", "start": 865 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "ENST00000704310.1:c.866C>A" ], "proteinEffect": { "hgvs": "ENSP00000515832.1:p.Ser289Ter", "hgvsWellDefined": "ENSP00000515832.1:p.Ser289_Pro1278delinsLeuGlyThrAlaProSerLeuGlnAsnAsnGlnProValGluPheAsnHisAlaIleAsnTyrValAsnLysIleLysAsnArgPheGlnGlyGlnProAspIleTyrLysAlaPheLeuGluIleLeuHisThrTyrGlnLysGluGlnArgAsnAlaLysGluAlaGlyGlyAsnTyrThrProAlaLeuThrGluGlnGluValTyrAlaGlnValAlaArgLeuPheLysAsnGlnGluAspLeuLeuSerGluPheGlyGlnPheLeuProAspAlaAsnSerSerValLeuLeuSerLysThrThrAlaGluLysValAspSerValArgAsnAspHisGlyGlyThrValLysLysProGlnLeuAsnAsnLysProGlnArgProSerGlnAsnGlyCysGlnIleArgArgHisProThrGlyThrThrProProValLysLysLysProLysLeuLeuAsnLeuLysAspSerSerMetAlaAspAlaSerLysHisGlyGlyGlyThrGluSerLeuPhePheAspLysValArgLysAlaLeuArgSerAlaGluAlaTyrGluAsnPheLeuArgCysLeuValIlePheAsnGlnGluValIleSerArgAlaGluLeuValGlnLeuValSerProPheLeuGlyLysPheProGluLeuPheAsnTrpPheLysAsnPheLeuGlyTyrLysGluSerValHisLeuGluThrTyrProLysGluArgAlaThrGluGlyIleAlaMetGluIleAspTyrAlaSerCysLysArgLeuGlySerSerTyrArgAlaLeuProLysSerTyrGlnGlnProLysCysThrGlyArgThrProLeuCysLysGluValLeuAsnAspThrTrpValSerPheProSerTrpSerGluAspSerThrPheValSerSerLysLysThrGlnTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysValSerTyrLeuGlnLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS912233" }, { "coordinates": [ { "allele": "A", "end": 1216, "referenceAllele": "C", "start": 1215 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "ENST00000704312.1:c.866C>A" ], "proteinEffect": { "hgvs": "ENSP00000515834.1:p.Ser289Ter", "hgvsWellDefined": "ENSP00000515834.1:p.Ser289_Pro1273delinsLeuGlyThrAlaProSerLeuGlnAsnAsnGlnProValGluPheAsnHisAlaIleAsnTyrValAsnLysIleLysAsnArgPheGlnGlyGlnProAspIleTyrLysAlaPheLeuGluIleLeuHisThrTyrGlnLysGluGlnArgAsnAlaLysGluAlaGlyGlyAsnTyrThrProAlaLeuThrGluGlnGluValTyrAlaGlnValAlaArgLeuPheLysAsnGlnGluAspLeuLeuSerGluPheGlyGlnPheLeuProAspAlaAsnSerSerValLeuLeuSerLysThrThrAlaGluLysValAspSerValArgAsnAspHisGlyGlyThrValLysLysProGlnLeuAsnAsnLysProGlnArgProSerGlnAsnGlyCysGlnIleArgArgHisProThrGlyThrThrProProValLysLysLysProLysLeuLeuAsnLeuLysAspSerSerMetAlaAspAlaSerLysHisGlyGlyGlyThrGluSerLeuPhePheAspLysValArgLysAlaLeuArgSerAlaGluAlaTyrGluAsnPheLeuArgCysLeuValIlePheAsnGlnGluValIleSerArgAlaGluLeuValGlnLeuValSerProPheLeuGlyLysPheProGluLeuPheAsnTrpPheLysAsnPheLeuGlyTyrLysGluSerValHisLeuGluThrTyrProLysGluArgAlaThrGluGlyIleAlaMetGluIleAspTyrAlaSerCysLysArgLeuGlySerSerTyrArgAlaLeuProLysSerTyrGlnGlnProLysCysThrGlyArgThrProLeuCysLysGluValLeuAsnAspThrTrpValSerPheProSerTrpSerGluAspSerThrPheValSerSerLysLysThrGlnTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS912235" }, { "coordinates": [ { "allele": "A", "end": 1167, "referenceAllele": "C", "start": 1166 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "ENST00000394947.8:c.866C>A" ], "proteinEffect": { "hgvs": "ENSP00000378402.3:p.Ser289Ter", "hgvsWellDefined": "ENSP00000378402.3:p.Ser289_Pro1273delinsLeuGlyThrAlaProSerLeuGlnAsnAsnGlnProValGluPheAsnHisAlaIleAsnTyrValAsnLysIleLysAsnArgPheGlnGlyGlnProAspIleTyrLysAlaPheLeuGluIleLeuHisThrTyrGlnLysGluGlnArgAsnAlaLysGluAlaGlyGlyAsnTyrThrProAlaLeuThrGluGlnGluValTyrAlaGlnValAlaArgLeuPheLysAsnGlnGluAspLeuLeuSerGluPheGlyGlnPheLeuProAspAlaAsnSerSerValLeuLeuSerLysThrThrAlaGluLysValAspSerValArgAsnAspHisGlyGlyThrValLysLysProGlnLeuAsnAsnLysProGlnArgProSerGlnAsnGlyCysGlnIleArgArgHisProThrGlyThrThrProProValLysLysLysProLysLeuLeuAsnLeuLysAspSerSerMetAlaAspAlaSerLysHisGlyGlyGlyThrGluSerLeuPhePheAspLysValArgLysAlaLeuArgSerAlaGluAlaTyrGluAsnPheLeuArgCysLeuValIlePheAsnGlnGluValIleSerArgAlaGluLeuValGlnLeuValSerProPheLeuGlyLysPheProGluLeuPheAsnTrpPheLysAsnPheLeuGlyTyrLysGluSerValHisLeuGluThrTyrProLysGluArgAlaThrGluGlyIleAlaMetGluIleAspTyrAlaSerCysLysArgLeuGlySerSerTyrArgAlaLeuProLysSerTyrGlnGlnProLysCysThrGlyArgThrProLeuCysLysGluValLeuAsnAspThrTrpValSerPheProSerTrpSerGluAspSerThrPheValSerSerLysLysThrGlnTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753335", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000394947.8:c.866C>A" }, "RefSeq": { "hgvs": "NM_001145358.2:c.866C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000378402.3:p.Ser289Ter" }, "RefSeq": { "hgvs": "NP_001138830.1:p.Ser289Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1048, "referenceAllele": "C", "start": 1047 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "ENST00000360439.8:c.866C>A" ], "proteinEffect": { "hgvs": "ENSP00000353622.4:p.Ser289Ter", "hgvsWellDefined": "ENSP00000353622.4:p.Ser289_Pro1273delinsLeuGlyThrAlaProSerLeuGlnAsnAsnGlnProValGluPheAsnHisAlaIleAsnTyrValAsnLysIleLysAsnArgPheGlnGlyGlnProAspIleTyrLysAlaPheLeuGluIleLeuHisThrTyrGlnLysGluGlnArgAsnAlaLysGluAlaGlyGlyAsnTyrThrProAlaLeuThrGluGlnGluValTyrAlaGlnValAlaArgLeuPheLysAsnGlnGluAspLeuLeuSerGluPheGlyGlnPheLeuProAspAlaAsnSerSerValLeuLeuSerLysThrThrAlaGluLysValAspSerValArgAsnAspHisGlyGlyThrValLysLysProGlnLeuAsnAsnLysProGlnArgProSerGlnAsnGlyCysGlnIleArgArgHisProThrGlyThrThrProProValLysLysLysProLysLeuLeuAsnLeuLysAspSerSerMetAlaAspAlaSerLysHisGlyGlyGlyThrGluSerLeuPhePheAspLysValArgLysAlaLeuArgSerAlaGluAlaTyrGluAsnPheLeuArgCysLeuValIlePheAsnGlnGluValIleSerArgAlaGluLeuValGlnLeuValSerProPheLeuGlyLysPheProGluLeuPheAsnTrpPheLysAsnPheLeuGlyTyrLysGluSerValHisLeuGluThrTyrProLysGluArgAlaThrGluGlyIleAlaMetGluIleAspTyrAlaSerCysLysArgLeuGlySerSerTyrArgAlaLeuProLysSerTyrGlnGlnProLysCysThrGlyArgThrProLeuCysLysGluValLeuAsnAspThrTrpValSerPheProSerTrpSerGluAspSerThrPheValSerSerLysLysThrGlnTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS265129" }, { "coordinates": [ { "allele": "A", "end": 1181, "referenceAllele": "C", "start": 1180 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "ENST00000394947.7:c.866C>A" ], "proteinEffect": { "hgvs": "ENSP00000378402.3:p.Ser289Ter", "hgvsWellDefined": "ENSP00000378402.3:p.Ser289_Pro1273delinsLeuGlyThrAlaProSerLeuGlnAsnAsnGlnProValGluPheAsnHisAlaIleAsnTyrValAsnLysIleLysAsnArgPheGlnGlyGlnProAspIleTyrLysAlaPheLeuGluIleLeuHisThrTyrGlnLysGluGlnArgAsnAlaLysGluAlaGlyGlyAsnTyrThrProAlaLeuThrGluGlnGluValTyrAlaGlnValAlaArgLeuPheLysAsnGlnGluAspLeuLeuSerGluPheGlyGlnPheLeuProAspAlaAsnSerSerValLeuLeuSerLysThrThrAlaGluLysValAspSerValArgAsnAspHisGlyGlyThrValLysLysProGlnLeuAsnAsnLysProGlnArgProSerGlnAsnGlyCysGlnIleArgArgHisProThrGlyThrThrProProValLysLysLysProLysLeuLeuAsnLeuLysAspSerSerMetAlaAspAlaSerLysHisGlyGlyGlyThrGluSerLeuPhePheAspLysValArgLysAlaLeuArgSerAlaGluAlaTyrGluAsnPheLeuArgCysLeuValIlePheAsnGlnGluValIleSerArgAlaGluLeuValGlnLeuValSerProPheLeuGlyLysPheProGluLeuPheAsnTrpPheLysAsnPheLeuGlyTyrLysGluSerValHisLeuGluThrTyrProLysGluArgAlaThrGluGlyIleAlaMetGluIleAspTyrAlaSerCysLysArgLeuGlySerSerTyrArgAlaLeuProLysSerTyrGlnGlnProLysCysThrGlyArgThrProLeuCysLysGluValLeuAsnAspThrTrpValSerPheProSerTrpSerGluAspSerThrPheValSerSerLysLysThrGlnTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276436" }, { "coordinates": [ { "allele": "A", "end": 1125, "referenceAllele": "C", "start": 1124 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "ENST00000394949.8:c.866C>A" ], "proteinEffect": { "hgvs": "ENSP00000378403.4:p.Ser289Ter", "hgvsWellDefined": "ENSP00000378403.4:p.Ser289_Pro1273delinsLeuGlyThrAlaProSerLeuGlnAsnAsnGlnProValGluPheAsnHisAlaIleAsnTyrValAsnLysIleLysAsnArgPheGlnGlyGlnProAspIleTyrLysAlaPheLeuGluIleLeuHisThrTyrGlnLysGluGlnArgAsnAlaLysGluAlaGlyGlyAsnTyrThrProAlaLeuThrGluGlnGluValTyrAlaGlnValAlaArgLeuPheLysAsnGlnGluAspLeuLeuSerGluPheGlyGlnPheLeuProAspAlaAsnSerSerValLeuLeuSerLysThrThrAlaGluLysValAspSerValArgAsnAspHisGlyGlyThrValLysLysProGlnLeuAsnAsnLysProGlnArgProSerGlnAsnGlyCysGlnIleArgArgHisProThrGlyThrThrProProValLysLysLysProLysLeuLeuAsnLeuLysAspSerSerMetAlaAspAlaSerLysHisGlyGlyGlyThrGluSerLeuPhePheAspLysValArgLysAlaLeuArgSerAlaGluAlaTyrGluAsnPheLeuArgCysLeuValIlePheAsnGlnGluValIleSerArgAlaGluLeuValGlnLeuValSerProPheLeuGlyLysPheProGluLeuPheAsnTrpPheLysAsnPheLeuGlyTyrLysGluSerValHisLeuGluThrTyrProLysGluArgAlaThrGluGlyIleAlaMetGluIleAspTyrAlaSerCysLysArgLeuGlySerSerTyrArgAlaLeuProLysSerTyrGlnGlnProLysCysThrGlyArgThrProLeuCysLysGluValLeuAsnAspThrTrpValSerPheProSerTrpSerGluAspSerThrPheValSerSerLysLysThrGlnTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276437" }, { "@id": "http://reg.genome.network/allele/PA2825889640", "coordinates": [ { "allele": "A", "end": 1048, "referenceAllele": "C", "start": 1047 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "NM_001145357.1:c.866C>A" ], "proteinEffect": { "hgvs": "NP_001138829.1:p.Ser289Ter", "hgvsWellDefined": "NP_001138829.1:p.Ser289_Pro1273delinsLeuGlyThrAlaProSerLeuGlnAsnAsnGlnProValGluPheAsnHisAlaIleAsnTyrValAsnLysIleLysAsnArgPheGlnGlyGlnProAspIleTyrLysAlaPheLeuGluIleLeuHisThrTyrGlnLysGluGlnArgAsnAlaLysGluAlaGlyGlyAsnTyrThrProAlaLeuThrGluGlnGluValTyrAlaGlnValAlaArgLeuPheLysAsnGlnGluAspLeuLeuSerGluPheGlyGlnPheLeuProAspAlaAsnSerSerValLeuLeuSerLysThrThrAlaGluLysValAspSerValArgAsnAspHisGlyGlyThrValLysLysProGlnLeuAsnAsnLysProGlnArgProSerGlnAsnGlyCysGlnIleArgArgHisProThrGlyThrThrProProValLysLysLysProLysLeuLeuAsnLeuLysAspSerSerMetAlaAspAlaSerLysHisGlyGlyGlyThrGluSerLeuPhePheAspLysValArgLysAlaLeuArgSerAlaGluAlaTyrGluAsnPheLeuArgCysLeuValIlePheAsnGlnGluValIleSerArgAlaGluLeuValGlnLeuValSerProPheLeuGlyLysPheProGluLeuPheAsnTrpPheLysAsnPheLeuGlyTyrLysGluSerValHisLeuGluThrTyrProLysGluArgAlaThrGluGlyIleAlaMetGluIleAspTyrAlaSerCysLysArgLeuGlySerSerTyrArgAlaLeuProLysSerTyrGlnGlnProLysCysThrGlyArgThrProLeuCysLysGluValLeuAsnAspThrTrpValSerPheProSerTrpSerGluAspSerThrPheValSerSerLysLysThrGlnTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS013611" }, { "@id": "http://reg.genome.network/allele/PA2825890015", "coordinates": [ { "allele": "A", "end": 1223, "referenceAllele": "C", "start": 1222 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "NM_001145358.1:c.866C>A" ], "proteinEffect": { "hgvs": "NP_001138830.1:p.Ser289Ter", "hgvsWellDefined": "NP_001138830.1:p.Ser289_Pro1273delinsLeuGlyThrAlaProSerLeuGlnAsnAsnGlnProValGluPheAsnHisAlaIleAsnTyrValAsnLysIleLysAsnArgPheGlnGlyGlnProAspIleTyrLysAlaPheLeuGluIleLeuHisThrTyrGlnLysGluGlnArgAsnAlaLysGluAlaGlyGlyAsnTyrThrProAlaLeuThrGluGlnGluValTyrAlaGlnValAlaArgLeuPheLysAsnGlnGluAspLeuLeuSerGluPheGlyGlnPheLeuProAspAlaAsnSerSerValLeuLeuSerLysThrThrAlaGluLysValAspSerValArgAsnAspHisGlyGlyThrValLysLysProGlnLeuAsnAsnLysProGlnArgProSerGlnAsnGlyCysGlnIleArgArgHisProThrGlyThrThrProProValLysLysLysProLysLeuLeuAsnLeuLysAspSerSerMetAlaAspAlaSerLysHisGlyGlyGlyThrGluSerLeuPhePheAspLysValArgLysAlaLeuArgSerAlaGluAlaTyrGluAsnPheLeuArgCysLeuValIlePheAsnGlnGluValIleSerArgAlaGluLeuValGlnLeuValSerProPheLeuGlyLysPheProGluLeuPheAsnTrpPheLysAsnPheLeuGlyTyrLysGluSerValHisLeuGluThrTyrProLysGluArgAlaThrGluGlyIleAlaMetGluIleAspTyrAlaSerCysLysArgLeuGlySerSerTyrArgAlaLeuProLysSerTyrGlnGlnProLysCysThrGlyArgThrProLeuCysLysGluValLeuAsnAspThrTrpValSerPheProSerTrpSerGluAspSerThrPheValSerSerLysLysThrGlnTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS013612" }, { "@id": "http://reg.genome.network/allele/PA1139729386", "coordinates": [ { "allele": "A", "end": 1125, "referenceAllele": "C", "start": 1124 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "NM_015477.2:c.866C>A" ], "proteinEffect": { "hgvs": "NP_056292.1:p.Ser289Ter", "hgvsWellDefined": "NP_056292.1:p.Ser289_Pro1273delinsLeuGlyThrAlaProSerLeuGlnAsnAsnGlnProValGluPheAsnHisAlaIleAsnTyrValAsnLysIleLysAsnArgPheGlnGlyGlnProAspIleTyrLysAlaPheLeuGluIleLeuHisThrTyrGlnLysGluGlnArgAsnAlaLysGluAlaGlyGlyAsnTyrThrProAlaLeuThrGluGlnGluValTyrAlaGlnValAlaArgLeuPheLysAsnGlnGluAspLeuLeuSerGluPheGlyGlnPheLeuProAspAlaAsnSerSerValLeuLeuSerLysThrThrAlaGluLysValAspSerValArgAsnAspHisGlyGlyThrValLysLysProGlnLeuAsnAsnLysProGlnArgProSerGlnAsnGlyCysGlnIleArgArgHisProThrGlyThrThrProProValLysLysLysProLysLeuLeuAsnLeuLysAspSerSerMetAlaAspAlaSerLysHisGlyGlyGlyThrGluSerLeuPhePheAspLysValArgLysAlaLeuArgSerAlaGluAlaTyrGluAsnPheLeuArgCysLeuValIlePheAsnGlnGluValIleSerArgAlaGluLeuValGlnLeuValSerProPheLeuGlyLysPheProGluLeuPheAsnTrpPheLysAsnPheLeuGlyTyrLysGluSerValHisLeuGluThrTyrProLysGluArgAlaThrGluGlyIleAlaMetGluIleAspTyrAlaSerCysLysArgLeuGlySerSerTyrArgAlaLeuProLysSerTyrGlnGlnProLysCysThrGlyArgThrProLeuCysLysGluValLeuAsnAspThrTrpValSerPheProSerTrpSerGluAspSerThrPheValSerSerLysLysThrGlnTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS034051" }, { "coordinates": [ { "allele": "A", "end": 927, "referenceAllele": "C", "start": 926 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "XM_006720465.2:c.866C>A" ], "proteinEffect": { "hgvs": "XP_006720528.1:p.Ser289Ter", "hgvsWellDefined": "XP_006720528.1:p.Ser289_Pro1273delinsLeuGlyThrAlaProSerLeuGlnAsnAsnGlnProValGluPheAsnHisAlaIleAsnTyrValAsnLysIleLysAsnArgPheGlnGlyGlnProAspIleTyrLysAlaPheLeuGluIleLeuHisThrTyrGlnLysGluGlnArgAsnAlaLysGluAlaGlyGlyAsnTyrThrProAlaLeuThrGluGlnGluValTyrAlaGlnValAlaArgLeuPheLysAsnGlnGluAspLeuLeuSerGluPheGlyGlnPheLeuProAspAlaAsnSerSerValLeuLeuSerLysThrThrAlaGluLysValAspSerValArgAsnAspHisGlyGlyThrValLysLysProGlnLeuAsnAsnLysProGlnArgProSerGlnAsnGlyCysGlnIleArgArgHisProThrGlyThrThrProProValLysLysLysProLysLeuLeuAsnLeuLysAspSerSerMetAlaAspAlaSerLysHisGlyGlyGlyThrGluSerLeuPhePheAspLysValArgLysAlaLeuArgSerAlaGluAlaTyrGluAsnPheLeuArgCysLeuValIlePheAsnGlnGluValIleSerArgAlaGluLeuValGlnLeuValSerProPheLeuGlyLysPheProGluLeuPheAsnTrpPheLysAsnPheLeuGlyTyrLysGluSerValHisLeuGluThrTyrProLysGluArgAlaThrGluGlyIleAlaMetGluIleAspTyrAlaSerCysLysArgLeuGlySerSerTyrArgAlaLeuProLysSerTyrGlnGlnProLysCysThrGlyArgThrProLeuCysLysGluValLeuAsnAspThrTrpValSerPheProSerTrpSerGluAspSerThrPheValSerSerLysLysThrGlnTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073676" }, { "coordinates": [ { "allele": "A", "end": 1321, "referenceAllele": "C", "start": 1320 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "XM_006720466.2:c.866C>A" ], "proteinEffect": { "hgvs": "XP_006720529.1:p.Ser289Ter", "hgvsWellDefined": "XP_006720529.1:p.Ser289_Pro1273delinsLeuGlyThrAlaProSerLeuGlnAsnAsnGlnProValGluPheAsnHisAlaIleAsnTyrValAsnLysIleLysAsnArgPheGlnGlyGlnProAspIleTyrLysAlaPheLeuGluIleLeuHisThrTyrGlnLysGluGlnArgAsnAlaLysGluAlaGlyGlyAsnTyrThrProAlaLeuThrGluGlnGluValTyrAlaGlnValAlaArgLeuPheLysAsnGlnGluAspLeuLeuSerGluPheGlyGlnPheLeuProAspAlaAsnSerSerValLeuLeuSerLysThrThrAlaGluLysValAspSerValArgAsnAspHisGlyGlyThrValLysLysProGlnLeuAsnAsnLysProGlnArgProSerGlnAsnGlyCysGlnIleArgArgHisProThrGlyThrThrProProValLysLysLysProLysLeuLeuAsnLeuLysAspSerSerMetAlaAspAlaSerLysHisGlyGlyGlyThrGluSerLeuPhePheAspLysValArgLysAlaLeuArgSerAlaGluAlaTyrGluAsnPheLeuArgCysLeuValIlePheAsnGlnGluValIleSerArgAlaGluLeuValGlnLeuValSerProPheLeuGlyLysPheProGluLeuPheAsnTrpPheLysAsnPheLeuGlyTyrLysGluSerValHisLeuGluThrTyrProLysGluArgAlaThrGluGlyIleAlaMetGluIleAspTyrAlaSerCysLysArgLeuGlySerSerTyrArgAlaLeuProLysSerTyrGlnGlnProLysCysThrGlyArgThrProLeuCysLysGluValLeuAsnAspThrTrpValSerPheProSerTrpSerGluAspSerThrPheValSerSerLysLysThrGlnTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073677" }, { "coordinates": [ { "allele": "A", "end": 1111, "referenceAllele": "C", "start": 1110 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "XM_006720467.2:c.866C>A" ], "proteinEffect": { "hgvs": "XP_006720530.1:p.Ser289Ter", "hgvsWellDefined": "XP_006720530.1:p.Ser289_Pro1273delinsLeuGlyThrAlaProSerLeuGlnAsnAsnGlnProValGluPheAsnHisAlaIleAsnTyrValAsnLysIleLysAsnArgPheGlnGlyGlnProAspIleTyrLysAlaPheLeuGluIleLeuHisThrTyrGlnLysGluGlnArgAsnAlaLysGluAlaGlyGlyAsnTyrThrProAlaLeuThrGluGlnGluValTyrAlaGlnValAlaArgLeuPheLysAsnGlnGluAspLeuLeuSerGluPheGlyGlnPheLeuProAspAlaAsnSerSerValLeuLeuSerLysThrThrAlaGluLysValAspSerValArgAsnAspHisGlyGlyThrValLysLysProGlnLeuAsnAsnLysProGlnArgProSerGlnAsnGlyCysGlnIleArgArgHisProThrGlyThrThrProProValLysLysLysProLysLeuLeuAsnLeuLysAspSerSerMetAlaAspAlaSerLysHisGlyGlyGlyThrGluSerLeuPhePheAspLysValArgLysAlaLeuArgSerAlaGluAlaTyrGluAsnPheLeuArgCysLeuValIlePheAsnGlnGluValIleSerArgAlaGluLeuValGlnLeuValSerProPheLeuGlyLysPheProGluLeuPheAsnTrpPheLysAsnPheLeuGlyTyrLysGluSerValHisLeuGluThrTyrProLysGluArgAlaThrGluGlyIleAlaMetGluIleAspTyrAlaSerCysLysArgLeuGlySerSerTyrArgAlaLeuProLysSerTyrGlnGlnProLysCysThrGlyArgThrProLeuCysLysGluValLeuAsnAspThrTrpValSerPheProSerTrpSerGluAspSerThrPheValSerSerLysLysThrGlnTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073678" }, { "coordinates": [ { "allele": "A", "end": 931, "referenceAllele": "C", "start": 930 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "XM_006720465.3:c.866C>A" ], "proteinEffect": { "hgvs": "XP_006720528.1:p.Ser289Ter", "hgvsWellDefined": "XP_006720528.1:p.Ser289_Pro1273delinsLeuGlyThrAlaProSerLeuGlnAsnAsnGlnProValGluPheAsnHisAlaIleAsnTyrValAsnLysIleLysAsnArgPheGlnGlyGlnProAspIleTyrLysAlaPheLeuGluIleLeuHisThrTyrGlnLysGluGlnArgAsnAlaLysGluAlaGlyGlyAsnTyrThrProAlaLeuThrGluGlnGluValTyrAlaGlnValAlaArgLeuPheLysAsnGlnGluAspLeuLeuSerGluPheGlyGlnPheLeuProAspAlaAsnSerSerValLeuLeuSerLysThrThrAlaGluLysValAspSerValArgAsnAspHisGlyGlyThrValLysLysProGlnLeuAsnAsnLysProGlnArgProSerGlnAsnGlyCysGlnIleArgArgHisProThrGlyThrThrProProValLysLysLysProLysLeuLeuAsnLeuLysAspSerSerMetAlaAspAlaSerLysHisGlyGlyGlyThrGluSerLeuPhePheAspLysValArgLysAlaLeuArgSerAlaGluAlaTyrGluAsnPheLeuArgCysLeuValIlePheAsnGlnGluValIleSerArgAlaGluLeuValGlnLeuValSerProPheLeuGlyLysPheProGluLeuPheAsnTrpPheLysAsnPheLeuGlyTyrLysGluSerValHisLeuGluThrTyrProLysGluArgAlaThrGluGlyIleAlaMetGluIleAspTyrAlaSerCysLysArgLeuGlySerSerTyrArgAlaLeuProLysSerTyrGlnGlnProLysCysThrGlyArgThrProLeuCysLysGluValLeuAsnAspThrTrpValSerPheProSerTrpSerGluAspSerThrPheValSerSerLysLysThrGlnTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540104" }, { "coordinates": [ { "allele": "A", "end": 1321, "referenceAllele": "C", "start": 1320 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "XM_006720466.3:c.866C>A" ], "proteinEffect": { "hgvs": "XP_006720529.1:p.Ser289Ter", "hgvsWellDefined": "XP_006720529.1:p.Ser289_Pro1273delinsLeuGlyThrAlaProSerLeuGlnAsnAsnGlnProValGluPheAsnHisAlaIleAsnTyrValAsnLysIleLysAsnArgPheGlnGlyGlnProAspIleTyrLysAlaPheLeuGluIleLeuHisThrTyrGlnLysGluGlnArgAsnAlaLysGluAlaGlyGlyAsnTyrThrProAlaLeuThrGluGlnGluValTyrAlaGlnValAlaArgLeuPheLysAsnGlnGluAspLeuLeuSerGluPheGlyGlnPheLeuProAspAlaAsnSerSerValLeuLeuSerLysThrThrAlaGluLysValAspSerValArgAsnAspHisGlyGlyThrValLysLysProGlnLeuAsnAsnLysProGlnArgProSerGlnAsnGlyCysGlnIleArgArgHisProThrGlyThrThrProProValLysLysLysProLysLeuLeuAsnLeuLysAspSerSerMetAlaAspAlaSerLysHisGlyGlyGlyThrGluSerLeuPhePheAspLysValArgLysAlaLeuArgSerAlaGluAlaTyrGluAsnPheLeuArgCysLeuValIlePheAsnGlnGluValIleSerArgAlaGluLeuValGlnLeuValSerProPheLeuGlyLysPheProGluLeuPheAsnTrpPheLysAsnPheLeuGlyTyrLysGluSerValHisLeuGluThrTyrProLysGluArgAlaThrGluGlyIleAlaMetGluIleAspTyrAlaSerCysLysArgLeuGlySerSerTyrArgAlaLeuProLysSerTyrGlnGlnProLysCysThrGlyArgThrProLeuCysLysGluValLeuAsnAspThrTrpValSerPheProSerTrpSerGluAspSerThrPheValSerSerLysLysThrGlnTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540105" }, { "coordinates": [ { "allele": "A", "end": 1139, "referenceAllele": "C", "start": 1138 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "XM_006720467.3:c.866C>A" ], "proteinEffect": { "hgvs": "XP_006720530.1:p.Ser289Ter", "hgvsWellDefined": "XP_006720530.1:p.Ser289_Pro1273delinsLeuGlyThrAlaProSerLeuGlnAsnAsnGlnProValGluPheAsnHisAlaIleAsnTyrValAsnLysIleLysAsnArgPheGlnGlyGlnProAspIleTyrLysAlaPheLeuGluIleLeuHisThrTyrGlnLysGluGlnArgAsnAlaLysGluAlaGlyGlyAsnTyrThrProAlaLeuThrGluGlnGluValTyrAlaGlnValAlaArgLeuPheLysAsnGlnGluAspLeuLeuSerGluPheGlyGlnPheLeuProAspAlaAsnSerSerValLeuLeuSerLysThrThrAlaGluLysValAspSerValArgAsnAspHisGlyGlyThrValLysLysProGlnLeuAsnAsnLysProGlnArgProSerGlnAsnGlyCysGlnIleArgArgHisProThrGlyThrThrProProValLysLysLysProLysLeuLeuAsnLeuLysAspSerSerMetAlaAspAlaSerLysHisGlyGlyGlyThrGluSerLeuPhePheAspLysValArgLysAlaLeuArgSerAlaGluAlaTyrGluAsnPheLeuArgCysLeuValIlePheAsnGlnGluValIleSerArgAlaGluLeuValGlnLeuValSerProPheLeuGlyLysPheProGluLeuPheAsnTrpPheLysAsnPheLeuGlyTyrLysGluSerValHisLeuGluThrTyrProLysGluArgAlaThrGluGlyIleAlaMetGluIleAspTyrAlaSerCysLysArgLeuGlySerSerTyrArgAlaLeuProLysSerTyrGlnGlnProLysCysThrGlyArgThrProLeuCysLysGluValLeuAsnAspThrTrpValSerPheProSerTrpSerGluAspSerThrPheValSerSerLysLysThrGlnTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540106" }, { "coordinates": [ { "allele": "A", "end": 1062, "referenceAllele": "C", "start": 1061 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "XM_024449896.1:c.866C>A" ], "proteinEffect": { "hgvs": "XP_024305664.1:p.Ser289Ter", "hgvsWellDefined": "XP_024305664.1:p.Ser289_Pro1273delinsLeuGlyThrAlaProSerLeuGlnAsnAsnGlnProValGluPheAsnHisAlaIleAsnTyrValAsnLysIleLysAsnArgPheGlnGlyGlnProAspIleTyrLysAlaPheLeuGluIleLeuHisThrTyrGlnLysGluGlnArgAsnAlaLysGluAlaGlyGlyAsnTyrThrProAlaLeuThrGluGlnGluValTyrAlaGlnValAlaArgLeuPheLysAsnGlnGluAspLeuLeuSerGluPheGlyGlnPheLeuProAspAlaAsnSerSerValLeuLeuSerLysThrThrAlaGluLysValAspSerValArgAsnAspHisGlyGlyThrValLysLysProGlnLeuAsnAsnLysProGlnArgProSerGlnAsnGlyCysGlnIleArgArgHisProThrGlyThrThrProProValLysLysLysProLysLeuLeuAsnLeuLysAspSerSerMetAlaAspAlaSerLysHisGlyGlyGlyThrGluSerLeuPhePheAspLysValArgLysAlaLeuArgSerAlaGluAlaTyrGluAsnPheLeuArgCysLeuValIlePheAsnGlnGluValIleSerArgAlaGluLeuValGlnLeuValSerProPheLeuGlyLysPheProGluLeuPheAsnTrpPheLysAsnPheLeuGlyTyrLysGluSerValHisLeuGluThrTyrProLysGluArgAlaThrGluGlyIleAlaMetGluIleAspTyrAlaSerCysLysArgLeuGlySerSerTyrArgAlaLeuProLysSerTyrGlnGlnProLysCysThrGlyArgThrProLeuCysLysGluValLeuAsnAspThrTrpValSerPheProSerTrpSerGluAspSerThrPheValSerSerLysLysThrGlnTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583438" }, { "@id": "http://reg.genome.network/allele/PA2825889640", "coordinates": [ { "allele": "A", "end": 1080, "referenceAllele": "C", "start": 1079 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "NM_001145357.2:c.866C>A" ], "proteinEffect": { "hgvs": "NP_001138829.1:p.Ser289Ter", "hgvsWellDefined": "NP_001138829.1:p.Ser289_Pro1273delinsLeuGlyThrAlaProSerLeuGlnAsnAsnGlnProValGluPheAsnHisAlaIleAsnTyrValAsnLysIleLysAsnArgPheGlnGlyGlnProAspIleTyrLysAlaPheLeuGluIleLeuHisThrTyrGlnLysGluGlnArgAsnAlaLysGluAlaGlyGlyAsnTyrThrProAlaLeuThrGluGlnGluValTyrAlaGlnValAlaArgLeuPheLysAsnGlnGluAspLeuLeuSerGluPheGlyGlnPheLeuProAspAlaAsnSerSerValLeuLeuSerLysThrThrAlaGluLysValAspSerValArgAsnAspHisGlyGlyThrValLysLysProGlnLeuAsnAsnLysProGlnArgProSerGlnAsnGlyCysGlnIleArgArgHisProThrGlyThrThrProProValLysLysLysProLysLeuLeuAsnLeuLysAspSerSerMetAlaAspAlaSerLysHisGlyGlyGlyThrGluSerLeuPhePheAspLysValArgLysAlaLeuArgSerAlaGluAlaTyrGluAsnPheLeuArgCysLeuValIlePheAsnGlnGluValIleSerArgAlaGluLeuValGlnLeuValSerProPheLeuGlyLysPheProGluLeuPheAsnTrpPheLysAsnPheLeuGlyTyrLysGluSerValHisLeuGluThrTyrProLysGluArgAlaThrGluGlyIleAlaMetGluIleAspTyrAlaSerCysLysArgLeuGlySerSerTyrArgAlaLeuProLysSerTyrGlnGlnProLysCysThrGlyArgThrProLeuCysLysGluValLeuAsnAspThrTrpValSerPheProSerTrpSerGluAspSerThrPheValSerSerLysLysThrGlnTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677870" }, { "@id": "http://reg.genome.network/allele/PA2825890015", "coordinates": [ { "allele": "A", "end": 1167, "referenceAllele": "C", "start": 1166 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "NM_001145358.2:c.866C>A" ], "proteinEffect": { "hgvs": "NP_001138830.1:p.Ser289Ter", "hgvsWellDefined": "NP_001138830.1:p.Ser289_Pro1273delinsLeuGlyThrAlaProSerLeuGlnAsnAsnGlnProValGluPheAsnHisAlaIleAsnTyrValAsnLysIleLysAsnArgPheGlnGlyGlnProAspIleTyrLysAlaPheLeuGluIleLeuHisThrTyrGlnLysGluGlnArgAsnAlaLysGluAlaGlyGlyAsnTyrThrProAlaLeuThrGluGlnGluValTyrAlaGlnValAlaArgLeuPheLysAsnGlnGluAspLeuLeuSerGluPheGlyGlnPheLeuProAspAlaAsnSerSerValLeuLeuSerLysThrThrAlaGluLysValAspSerValArgAsnAspHisGlyGlyThrValLysLysProGlnLeuAsnAsnLysProGlnArgProSerGlnAsnGlyCysGlnIleArgArgHisProThrGlyThrThrProProValLysLysLysProLysLeuLeuAsnLeuLysAspSerSerMetAlaAspAlaSerLysHisGlyGlyGlyThrGluSerLeuPhePheAspLysValArgLysAlaLeuArgSerAlaGluAlaTyrGluAsnPheLeuArgCysLeuValIlePheAsnGlnGluValIleSerArgAlaGluLeuValGlnLeuValSerProPheLeuGlyLysPheProGluLeuPheAsnTrpPheLysAsnPheLeuGlyTyrLysGluSerValHisLeuGluThrTyrProLysGluArgAlaThrGluGlyIleAlaMetGluIleAspTyrAlaSerCysLysArgLeuGlySerSerTyrArgAlaLeuProLysSerTyrGlnGlnProLysCysThrGlyArgThrProLeuCysLysGluValLeuAsnAspThrTrpValSerPheProSerTrpSerGluAspSerThrPheValSerSerLysLysThrGlnTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677871", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000394947.8:c.866C>A" }, "RefSeq": { "hgvs": "NM_001145358.2:c.866C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000378402.3:p.Ser289Ter" }, "RefSeq": { "hgvs": "NP_001138830.1:p.Ser289Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA1139729386", "coordinates": [ { "allele": "A", "end": 1230, "referenceAllele": "C", "start": 1229 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "NM_015477.3:c.866C>A" ], "proteinEffect": { "hgvs": "NP_056292.1:p.Ser289Ter", "hgvsWellDefined": "NP_056292.1:p.Ser289_Pro1273delinsLeuGlyThrAlaProSerLeuGlnAsnAsnGlnProValGluPheAsnHisAlaIleAsnTyrValAsnLysIleLysAsnArgPheGlnGlyGlnProAspIleTyrLysAlaPheLeuGluIleLeuHisThrTyrGlnLysGluGlnArgAsnAlaLysGluAlaGlyGlyAsnTyrThrProAlaLeuThrGluGlnGluValTyrAlaGlnValAlaArgLeuPheLysAsnGlnGluAspLeuLeuSerGluPheGlyGlnPheLeuProAspAlaAsnSerSerValLeuLeuSerLysThrThrAlaGluLysValAspSerValArgAsnAspHisGlyGlyThrValLysLysProGlnLeuAsnAsnLysProGlnArgProSerGlnAsnGlyCysGlnIleArgArgHisProThrGlyThrThrProProValLysLysLysProLysLeuLeuAsnLeuLysAspSerSerMetAlaAspAlaSerLysHisGlyGlyGlyThrGluSerLeuPhePheAspLysValArgLysAlaLeuArgSerAlaGluAlaTyrGluAsnPheLeuArgCysLeuValIlePheAsnGlnGluValIleSerArgAlaGluLeuValGlnLeuValSerProPheLeuGlyLysPheProGluLeuPheAsnTrpPheLysAsnPheLeuGlyTyrLysGluSerValHisLeuGluThrTyrProLysGluArgAlaThrGluGlyIleAlaMetGluIleAspTyrAlaSerCysLysArgLeuGlySerSerTyrArgAlaLeuProLysSerTyrGlnGlnProLysCysThrGlyArgThrProLeuCysLysGluValLeuAsnAspThrTrpValSerPheProSerTrpSerGluAspSerThrPheValSerSerLysLysThrGlnTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697553" } ], "type": "nucleotide" }