{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA393446676", "communityStandardTitle": [ "NM_001145358.2(SIN3A):c.1015C>T (p.Gln339Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1053783[alleleid]", "alleleId": 1053783, "preferredName": "NM_001145358.2(SIN3A):c.1015C>T (p.Gln339Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1065454", "RCV": [ "RCV001375977" ], "variationId": 1065454 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.75702621G>A?assembly=hg19", "id": "chr15:g.75702621G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.75410280G>A?assembly=hg38", "id": "chr15:g.75410280G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2141487525", "rs": 2141487525 } ] }, "genomicAlleles": [ { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 75410280, "referenceAllele": "G", "start": 75410279 } ], "hgvs": [ "NC_000015.10:g.75410280G>A", "CM000677.2:g.75410280G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000063" }, { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 75702621, "referenceAllele": "G", "start": 75702620 } ], "hgvs": [ "NC_000015.9:g.75702621G>A", "CM000677.1:g.75702621G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000039" }, { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 73489674, "referenceAllele": "G", "start": 73489673 } ], "hgvs": [ "NC_000015.8:g.73489674G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000015" }, { "coordinates": [ { "allele": "T", "end": 50504, "referenceAllele": "C", "start": 50503 } ], "hgvs": [ "NG_052855.1:g.50504C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS617222" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1103, "referenceAllele": "C", "start": 1102 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "ENST00000564778.6:c.1015C>T" ], "proteinEffect": { "hgvs": "ENSP00000455204.2:p.Gln339Ter", "hgvsWellDefined": "ENSP00000455204.2:p.Gln339_Pro1273delinsArgAsnAlaLysGluAlaGlyGlyAsnTyrThrProAlaLeuThrGluGlnGluValTyrAlaGlnValAlaArgLeuPheLysAsnGlnGluAspLeuLeuSerGluPheGlyGlnPheLeuProAspAlaAsnSerSerValLeuLeuSerLysThrThrAlaGluLysValAspSerValArgAsnAspHisGlyGlyThrValLysLysProGlnLeuAsnAsnLysProGlnArgProSerGlnAsnGlyCysGlnIleArgArgHisProThrGlyThrThrProProValLysLysLysProLysLeuLeuAsnLeuLysAspSerSerMetAlaAspAlaSerLysHisGlyGlyGlyThrGluSerLeuPhePheAspLysValArgLysAlaLeuArgSerAlaGluAlaTyrGluAsnPheLeuArgCysLeuValIlePheAsnGlnGluValIleSerArgAlaGluLeuValGlnLeuValSerProPheLeuGlyLysPheProGluLeuPheAsnTrpPheLysAsnPheLeuGlyTyrLysGluSerValHisLeuGluThrTyrProLysGluArgAlaThrGluGlyIleAlaMetGluIleAspTyrAlaSerCysLysArgLeuGlySerSerTyrArgAlaLeuProLysSerTyrGlnGlnProLysCysThrGlyArgThrProLeuCysLysGluValLeuAsnAspThrTrpValSerPheProSerTrpSerGluAspSerThrPheValSerSerLysLysThrGlnTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS905944" }, { "coordinates": [ { "allele": "T", "end": 1470, "referenceAllele": "C", "start": 1469 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "ENST00000565264.2:c.1015C>T" ], "proteinEffect": { "hgvs": "ENSP00000454296.2:p.Gln339Ter", "hgvsWellDefined": "ENSP00000454296.2:p.Gln339_Pro1273delinsArgAsnAlaLysGluAlaGlyGlyAsnTyrThrProAlaLeuThrGluGlnGluValTyrAlaGlnValAlaArgLeuPheLysAsnGlnGluAspLeuLeuSerGluPheGlyGlnPheLeuProAspAlaAsnSerSerValLeuLeuSerLysThrThrAlaGluLysValAspSerValArgAsnAspHisGlyGlyThrValLysLysProGlnLeuAsnAsnLysProGlnArgProSerGlnAsnGlyCysGlnIleArgArgHisProThrGlyThrThrProProValLysLysLysProLysLeuLeuAsnLeuLysAspSerSerMetAlaAspAlaSerLysHisGlyGlyGlyThrGluSerLeuPhePheAspLysValArgLysAlaLeuArgSerAlaGluAlaTyrGluAsnPheLeuArgCysLeuValIlePheAsnGlnGluValIleSerArgAlaGluLeuValGlnLeuValSerProPheLeuGlyLysPheProGluLeuPheAsnTrpPheLysAsnPheLeuGlyTyrLysGluSerValHisLeuGluThrTyrProLysGluArgAlaThrGluGlyIleAlaMetGluIleAspTyrAlaSerCysLysArgLeuGlySerSerTyrArgAlaLeuProLysSerTyrGlnGlnProLysCysThrGlyArgThrProLeuCysLysGluValLeuAsnAspThrTrpValSerPheProSerTrpSerGluAspSerThrPheValSerSerLysLysThrGlnTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS905948" }, { "coordinates": [ { "allele": "T", "end": 337, "referenceAllele": "C", "start": 336 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "ENST00000704302.1:c.337C>T" ], "proteinEffect": { "hgvs": "ENSP00000515826.1:p.Gln113Ter", "hgvsWellDefined": "ENSP00000515826.1:p.Gln113_Ile922delinsArgAsnAlaLysGluAlaGlyGlyAsnTyrThrProAlaLeuThrGluGlnGluValTyrAlaGlnValAlaArgLeuPheLysAsnGlnGluAspLeuLeuSerGluPheGlyGlnPheLeuProAspAlaAsnSerSerValLeuLeuSerLysThrThrAlaGluLysValAspSerValArgAsnAspHisGlyGlyThrValLysLysProGlnLeuAsnAsnLysProGlnArgProSerGlnAsnGlyCysGlnIleArgArgHisProThrGlyThrThrProProValLysLysLysProLysLeuLeuAsnLeuLysAspSerSerMetAlaAspAlaSerLysHisGlyGlyGlyThrGluSerLeuPhePheAspLysValArgLysAlaLeuArgSerAlaGluAlaTyrGluAsnPheLeuArgCysLeuValIlePheAsnGlnGluValIleSerArgAlaGluLeuValGlnLeuValSerProPheLeuGlyLysPheProGluLeuPheAsnTrpPheLysAsnPheLeuGlyTyrLysGluSerValHisLeuGluThrTyrProLysGluArgAlaThrGluGlyIleAlaMetGluIleAspTyrAlaSerCysLysArgLeuGlySerSerTyrArgAlaLeuProLysSerTyrGlnGlnProLysCysThrGlyArgThrProLeuCysLysGluValLeuAsnAspThrTrpValSerPheProSerTrpSerGluAspSerThrPheValSerSerLysLysThrGlnTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProSerGluThrThrGluHisLeuCysMetTyrLeuThrAsnTrpAspGluTyrTyrAlaSerIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS912227" }, { "coordinates": [ { "allele": "T", "end": 1374, "referenceAllele": "C", "start": 1373 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "ENST00000704304.1:c.*969C>T" ], "proteinEffect": { "hgvs": "ENSP00000515828.1:n.*969C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS912229" }, { "coordinates": [ { "allele": "T", "end": 1125, "referenceAllele": "C", "start": 1124 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "ENST00000704305.1:c.1125C>T" ], "proteinEffect": { "hgvs": "ENSP00000515829.1:n.1125C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS912230" }, { "coordinates": [ { "allele": "T", "end": 1015, "referenceAllele": "C", "start": 1014 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "ENST00000704310.1:c.1015C>T" ], "proteinEffect": { "hgvs": "ENSP00000515832.1:p.Gln339Ter", "hgvsWellDefined": "ENSP00000515832.1:p.Gln339_Pro1278delinsArgAsnAlaLysGluAlaGlyGlyAsnTyrThrProAlaLeuThrGluGlnGluValTyrAlaGlnValAlaArgLeuPheLysAsnGlnGluAspLeuLeuSerGluPheGlyGlnPheLeuProAspAlaAsnSerSerValLeuLeuSerLysThrThrAlaGluLysValAspSerValArgAsnAspHisGlyGlyThrValLysLysProGlnLeuAsnAsnLysProGlnArgProSerGlnAsnGlyCysGlnIleArgArgHisProThrGlyThrThrProProValLysLysLysProLysLeuLeuAsnLeuLysAspSerSerMetAlaAspAlaSerLysHisGlyGlyGlyThrGluSerLeuPhePheAspLysValArgLysAlaLeuArgSerAlaGluAlaTyrGluAsnPheLeuArgCysLeuValIlePheAsnGlnGluValIleSerArgAlaGluLeuValGlnLeuValSerProPheLeuGlyLysPheProGluLeuPheAsnTrpPheLysAsnPheLeuGlyTyrLysGluSerValHisLeuGluThrTyrProLysGluArgAlaThrGluGlyIleAlaMetGluIleAspTyrAlaSerCysLysArgLeuGlySerSerTyrArgAlaLeuProLysSerTyrGlnGlnProLysCysThrGlyArgThrProLeuCysLysGluValLeuAsnAspThrTrpValSerPheProSerTrpSerGluAspSerThrPheValSerSerLysLysThrGlnTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysValSerTyrLeuGlnLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS912233" }, { "coordinates": [ { "allele": "T", "end": 1365, "referenceAllele": "C", "start": 1364 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "ENST00000704312.1:c.1015C>T" ], "proteinEffect": { "hgvs": "ENSP00000515834.1:p.Gln339Ter", "hgvsWellDefined": "ENSP00000515834.1:p.Gln339_Pro1273delinsArgAsnAlaLysGluAlaGlyGlyAsnTyrThrProAlaLeuThrGluGlnGluValTyrAlaGlnValAlaArgLeuPheLysAsnGlnGluAspLeuLeuSerGluPheGlyGlnPheLeuProAspAlaAsnSerSerValLeuLeuSerLysThrThrAlaGluLysValAspSerValArgAsnAspHisGlyGlyThrValLysLysProGlnLeuAsnAsnLysProGlnArgProSerGlnAsnGlyCysGlnIleArgArgHisProThrGlyThrThrProProValLysLysLysProLysLeuLeuAsnLeuLysAspSerSerMetAlaAspAlaSerLysHisGlyGlyGlyThrGluSerLeuPhePheAspLysValArgLysAlaLeuArgSerAlaGluAlaTyrGluAsnPheLeuArgCysLeuValIlePheAsnGlnGluValIleSerArgAlaGluLeuValGlnLeuValSerProPheLeuGlyLysPheProGluLeuPheAsnTrpPheLysAsnPheLeuGlyTyrLysGluSerValHisLeuGluThrTyrProLysGluArgAlaThrGluGlyIleAlaMetGluIleAspTyrAlaSerCysLysArgLeuGlySerSerTyrArgAlaLeuProLysSerTyrGlnGlnProLysCysThrGlyArgThrProLeuCysLysGluValLeuAsnAspThrTrpValSerPheProSerTrpSerGluAspSerThrPheValSerSerLysLysThrGlnTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS912235" }, { "coordinates": [ { "allele": "T", "end": 1316, "referenceAllele": "C", "start": 1315 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "ENST00000394947.8:c.1015C>T" ], "proteinEffect": { "hgvs": "ENSP00000378402.3:p.Gln339Ter", "hgvsWellDefined": "ENSP00000378402.3:p.Gln339_Pro1273delinsArgAsnAlaLysGluAlaGlyGlyAsnTyrThrProAlaLeuThrGluGlnGluValTyrAlaGlnValAlaArgLeuPheLysAsnGlnGluAspLeuLeuSerGluPheGlyGlnPheLeuProAspAlaAsnSerSerValLeuLeuSerLysThrThrAlaGluLysValAspSerValArgAsnAspHisGlyGlyThrValLysLysProGlnLeuAsnAsnLysProGlnArgProSerGlnAsnGlyCysGlnIleArgArgHisProThrGlyThrThrProProValLysLysLysProLysLeuLeuAsnLeuLysAspSerSerMetAlaAspAlaSerLysHisGlyGlyGlyThrGluSerLeuPhePheAspLysValArgLysAlaLeuArgSerAlaGluAlaTyrGluAsnPheLeuArgCysLeuValIlePheAsnGlnGluValIleSerArgAlaGluLeuValGlnLeuValSerProPheLeuGlyLysPheProGluLeuPheAsnTrpPheLysAsnPheLeuGlyTyrLysGluSerValHisLeuGluThrTyrProLysGluArgAlaThrGluGlyIleAlaMetGluIleAspTyrAlaSerCysLysArgLeuGlySerSerTyrArgAlaLeuProLysSerTyrGlnGlnProLysCysThrGlyArgThrProLeuCysLysGluValLeuAsnAspThrTrpValSerPheProSerTrpSerGluAspSerThrPheValSerSerLysLysThrGlnTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753335", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000394947.8:c.1015C>T" }, "RefSeq": { "hgvs": "NM_001145358.2:c.1015C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000378402.3:p.Gln339Ter" }, "RefSeq": { "hgvs": "NP_001138830.1:p.Gln339Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1197, "referenceAllele": "C", "start": 1196 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "ENST00000360439.8:c.1015C>T" ], "proteinEffect": { "hgvs": "ENSP00000353622.4:p.Gln339Ter", "hgvsWellDefined": "ENSP00000353622.4:p.Gln339_Pro1273delinsArgAsnAlaLysGluAlaGlyGlyAsnTyrThrProAlaLeuThrGluGlnGluValTyrAlaGlnValAlaArgLeuPheLysAsnGlnGluAspLeuLeuSerGluPheGlyGlnPheLeuProAspAlaAsnSerSerValLeuLeuSerLysThrThrAlaGluLysValAspSerValArgAsnAspHisGlyGlyThrValLysLysProGlnLeuAsnAsnLysProGlnArgProSerGlnAsnGlyCysGlnIleArgArgHisProThrGlyThrThrProProValLysLysLysProLysLeuLeuAsnLeuLysAspSerSerMetAlaAspAlaSerLysHisGlyGlyGlyThrGluSerLeuPhePheAspLysValArgLysAlaLeuArgSerAlaGluAlaTyrGluAsnPheLeuArgCysLeuValIlePheAsnGlnGluValIleSerArgAlaGluLeuValGlnLeuValSerProPheLeuGlyLysPheProGluLeuPheAsnTrpPheLysAsnPheLeuGlyTyrLysGluSerValHisLeuGluThrTyrProLysGluArgAlaThrGluGlyIleAlaMetGluIleAspTyrAlaSerCysLysArgLeuGlySerSerTyrArgAlaLeuProLysSerTyrGlnGlnProLysCysThrGlyArgThrProLeuCysLysGluValLeuAsnAspThrTrpValSerPheProSerTrpSerGluAspSerThrPheValSerSerLysLysThrGlnTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS265129" }, { "coordinates": [ { "allele": "T", "end": 1330, "referenceAllele": "C", "start": 1329 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "ENST00000394947.7:c.1015C>T" ], "proteinEffect": { "hgvs": "ENSP00000378402.3:p.Gln339Ter", "hgvsWellDefined": "ENSP00000378402.3:p.Gln339_Pro1273delinsArgAsnAlaLysGluAlaGlyGlyAsnTyrThrProAlaLeuThrGluGlnGluValTyrAlaGlnValAlaArgLeuPheLysAsnGlnGluAspLeuLeuSerGluPheGlyGlnPheLeuProAspAlaAsnSerSerValLeuLeuSerLysThrThrAlaGluLysValAspSerValArgAsnAspHisGlyGlyThrValLysLysProGlnLeuAsnAsnLysProGlnArgProSerGlnAsnGlyCysGlnIleArgArgHisProThrGlyThrThrProProValLysLysLysProLysLeuLeuAsnLeuLysAspSerSerMetAlaAspAlaSerLysHisGlyGlyGlyThrGluSerLeuPhePheAspLysValArgLysAlaLeuArgSerAlaGluAlaTyrGluAsnPheLeuArgCysLeuValIlePheAsnGlnGluValIleSerArgAlaGluLeuValGlnLeuValSerProPheLeuGlyLysPheProGluLeuPheAsnTrpPheLysAsnPheLeuGlyTyrLysGluSerValHisLeuGluThrTyrProLysGluArgAlaThrGluGlyIleAlaMetGluIleAspTyrAlaSerCysLysArgLeuGlySerSerTyrArgAlaLeuProLysSerTyrGlnGlnProLysCysThrGlyArgThrProLeuCysLysGluValLeuAsnAspThrTrpValSerPheProSerTrpSerGluAspSerThrPheValSerSerLysLysThrGlnTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276436" }, { "coordinates": [ { "allele": "T", "end": 1274, "referenceAllele": "C", "start": 1273 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "ENST00000394949.8:c.1015C>T" ], "proteinEffect": { "hgvs": "ENSP00000378403.4:p.Gln339Ter", "hgvsWellDefined": "ENSP00000378403.4:p.Gln339_Pro1273delinsArgAsnAlaLysGluAlaGlyGlyAsnTyrThrProAlaLeuThrGluGlnGluValTyrAlaGlnValAlaArgLeuPheLysAsnGlnGluAspLeuLeuSerGluPheGlyGlnPheLeuProAspAlaAsnSerSerValLeuLeuSerLysThrThrAlaGluLysValAspSerValArgAsnAspHisGlyGlyThrValLysLysProGlnLeuAsnAsnLysProGlnArgProSerGlnAsnGlyCysGlnIleArgArgHisProThrGlyThrThrProProValLysLysLysProLysLeuLeuAsnLeuLysAspSerSerMetAlaAspAlaSerLysHisGlyGlyGlyThrGluSerLeuPhePheAspLysValArgLysAlaLeuArgSerAlaGluAlaTyrGluAsnPheLeuArgCysLeuValIlePheAsnGlnGluValIleSerArgAlaGluLeuValGlnLeuValSerProPheLeuGlyLysPheProGluLeuPheAsnTrpPheLysAsnPheLeuGlyTyrLysGluSerValHisLeuGluThrTyrProLysGluArgAlaThrGluGlyIleAlaMetGluIleAspTyrAlaSerCysLysArgLeuGlySerSerTyrArgAlaLeuProLysSerTyrGlnGlnProLysCysThrGlyArgThrProLeuCysLysGluValLeuAsnAspThrTrpValSerPheProSerTrpSerGluAspSerThrPheValSerSerLysLysThrGlnTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276437" }, { "@id": "http://reg.genome.network/allele/PA2825889650", "coordinates": [ { "allele": "T", "end": 1197, "referenceAllele": "C", "start": 1196 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "NM_001145357.1:c.1015C>T" ], "proteinEffect": { "hgvs": "NP_001138829.1:p.Gln339Ter", "hgvsWellDefined": "NP_001138829.1:p.Gln339_Pro1273delinsArgAsnAlaLysGluAlaGlyGlyAsnTyrThrProAlaLeuThrGluGlnGluValTyrAlaGlnValAlaArgLeuPheLysAsnGlnGluAspLeuLeuSerGluPheGlyGlnPheLeuProAspAlaAsnSerSerValLeuLeuSerLysThrThrAlaGluLysValAspSerValArgAsnAspHisGlyGlyThrValLysLysProGlnLeuAsnAsnLysProGlnArgProSerGlnAsnGlyCysGlnIleArgArgHisProThrGlyThrThrProProValLysLysLysProLysLeuLeuAsnLeuLysAspSerSerMetAlaAspAlaSerLysHisGlyGlyGlyThrGluSerLeuPhePheAspLysValArgLysAlaLeuArgSerAlaGluAlaTyrGluAsnPheLeuArgCysLeuValIlePheAsnGlnGluValIleSerArgAlaGluLeuValGlnLeuValSerProPheLeuGlyLysPheProGluLeuPheAsnTrpPheLysAsnPheLeuGlyTyrLysGluSerValHisLeuGluThrTyrProLysGluArgAlaThrGluGlyIleAlaMetGluIleAspTyrAlaSerCysLysArgLeuGlySerSerTyrArgAlaLeuProLysSerTyrGlnGlnProLysCysThrGlyArgThrProLeuCysLysGluValLeuAsnAspThrTrpValSerPheProSerTrpSerGluAspSerThrPheValSerSerLysLysThrGlnTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS013611" }, { "@id": "http://reg.genome.network/allele/PA2825890023", "coordinates": [ { "allele": "T", "end": 1372, "referenceAllele": "C", "start": 1371 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "NM_001145358.1:c.1015C>T" ], "proteinEffect": { "hgvs": "NP_001138830.1:p.Gln339Ter", "hgvsWellDefined": "NP_001138830.1:p.Gln339_Pro1273delinsArgAsnAlaLysGluAlaGlyGlyAsnTyrThrProAlaLeuThrGluGlnGluValTyrAlaGlnValAlaArgLeuPheLysAsnGlnGluAspLeuLeuSerGluPheGlyGlnPheLeuProAspAlaAsnSerSerValLeuLeuSerLysThrThrAlaGluLysValAspSerValArgAsnAspHisGlyGlyThrValLysLysProGlnLeuAsnAsnLysProGlnArgProSerGlnAsnGlyCysGlnIleArgArgHisProThrGlyThrThrProProValLysLysLysProLysLeuLeuAsnLeuLysAspSerSerMetAlaAspAlaSerLysHisGlyGlyGlyThrGluSerLeuPhePheAspLysValArgLysAlaLeuArgSerAlaGluAlaTyrGluAsnPheLeuArgCysLeuValIlePheAsnGlnGluValIleSerArgAlaGluLeuValGlnLeuValSerProPheLeuGlyLysPheProGluLeuPheAsnTrpPheLysAsnPheLeuGlyTyrLysGluSerValHisLeuGluThrTyrProLysGluArgAlaThrGluGlyIleAlaMetGluIleAspTyrAlaSerCysLysArgLeuGlySerSerTyrArgAlaLeuProLysSerTyrGlnGlnProLysCysThrGlyArgThrProLeuCysLysGluValLeuAsnAspThrTrpValSerPheProSerTrpSerGluAspSerThrPheValSerSerLysLysThrGlnTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS013612" }, { "@id": "http://reg.genome.network/allele/PA2499281361", "coordinates": [ { "allele": "T", "end": 1274, "referenceAllele": "C", "start": 1273 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "NM_015477.2:c.1015C>T" ], "proteinEffect": { "hgvs": "NP_056292.1:p.Gln339Ter", "hgvsWellDefined": "NP_056292.1:p.Gln339_Pro1273delinsArgAsnAlaLysGluAlaGlyGlyAsnTyrThrProAlaLeuThrGluGlnGluValTyrAlaGlnValAlaArgLeuPheLysAsnGlnGluAspLeuLeuSerGluPheGlyGlnPheLeuProAspAlaAsnSerSerValLeuLeuSerLysThrThrAlaGluLysValAspSerValArgAsnAspHisGlyGlyThrValLysLysProGlnLeuAsnAsnLysProGlnArgProSerGlnAsnGlyCysGlnIleArgArgHisProThrGlyThrThrProProValLysLysLysProLysLeuLeuAsnLeuLysAspSerSerMetAlaAspAlaSerLysHisGlyGlyGlyThrGluSerLeuPhePheAspLysValArgLysAlaLeuArgSerAlaGluAlaTyrGluAsnPheLeuArgCysLeuValIlePheAsnGlnGluValIleSerArgAlaGluLeuValGlnLeuValSerProPheLeuGlyLysPheProGluLeuPheAsnTrpPheLysAsnPheLeuGlyTyrLysGluSerValHisLeuGluThrTyrProLysGluArgAlaThrGluGlyIleAlaMetGluIleAspTyrAlaSerCysLysArgLeuGlySerSerTyrArgAlaLeuProLysSerTyrGlnGlnProLysCysThrGlyArgThrProLeuCysLysGluValLeuAsnAspThrTrpValSerPheProSerTrpSerGluAspSerThrPheValSerSerLysLysThrGlnTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS034051" }, { "coordinates": [ { "allele": "T", "end": 1076, "referenceAllele": "C", "start": 1075 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "XM_006720465.2:c.1015C>T" ], "proteinEffect": { "hgvs": "XP_006720528.1:p.Gln339Ter", "hgvsWellDefined": "XP_006720528.1:p.Gln339_Pro1273delinsArgAsnAlaLysGluAlaGlyGlyAsnTyrThrProAlaLeuThrGluGlnGluValTyrAlaGlnValAlaArgLeuPheLysAsnGlnGluAspLeuLeuSerGluPheGlyGlnPheLeuProAspAlaAsnSerSerValLeuLeuSerLysThrThrAlaGluLysValAspSerValArgAsnAspHisGlyGlyThrValLysLysProGlnLeuAsnAsnLysProGlnArgProSerGlnAsnGlyCysGlnIleArgArgHisProThrGlyThrThrProProValLysLysLysProLysLeuLeuAsnLeuLysAspSerSerMetAlaAspAlaSerLysHisGlyGlyGlyThrGluSerLeuPhePheAspLysValArgLysAlaLeuArgSerAlaGluAlaTyrGluAsnPheLeuArgCysLeuValIlePheAsnGlnGluValIleSerArgAlaGluLeuValGlnLeuValSerProPheLeuGlyLysPheProGluLeuPheAsnTrpPheLysAsnPheLeuGlyTyrLysGluSerValHisLeuGluThrTyrProLysGluArgAlaThrGluGlyIleAlaMetGluIleAspTyrAlaSerCysLysArgLeuGlySerSerTyrArgAlaLeuProLysSerTyrGlnGlnProLysCysThrGlyArgThrProLeuCysLysGluValLeuAsnAspThrTrpValSerPheProSerTrpSerGluAspSerThrPheValSerSerLysLysThrGlnTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073676" }, { "coordinates": [ { "allele": "T", "end": 1470, "referenceAllele": "C", "start": 1469 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "XM_006720466.2:c.1015C>T" ], "proteinEffect": { "hgvs": "XP_006720529.1:p.Gln339Ter", "hgvsWellDefined": "XP_006720529.1:p.Gln339_Pro1273delinsArgAsnAlaLysGluAlaGlyGlyAsnTyrThrProAlaLeuThrGluGlnGluValTyrAlaGlnValAlaArgLeuPheLysAsnGlnGluAspLeuLeuSerGluPheGlyGlnPheLeuProAspAlaAsnSerSerValLeuLeuSerLysThrThrAlaGluLysValAspSerValArgAsnAspHisGlyGlyThrValLysLysProGlnLeuAsnAsnLysProGlnArgProSerGlnAsnGlyCysGlnIleArgArgHisProThrGlyThrThrProProValLysLysLysProLysLeuLeuAsnLeuLysAspSerSerMetAlaAspAlaSerLysHisGlyGlyGlyThrGluSerLeuPhePheAspLysValArgLysAlaLeuArgSerAlaGluAlaTyrGluAsnPheLeuArgCysLeuValIlePheAsnGlnGluValIleSerArgAlaGluLeuValGlnLeuValSerProPheLeuGlyLysPheProGluLeuPheAsnTrpPheLysAsnPheLeuGlyTyrLysGluSerValHisLeuGluThrTyrProLysGluArgAlaThrGluGlyIleAlaMetGluIleAspTyrAlaSerCysLysArgLeuGlySerSerTyrArgAlaLeuProLysSerTyrGlnGlnProLysCysThrGlyArgThrProLeuCysLysGluValLeuAsnAspThrTrpValSerPheProSerTrpSerGluAspSerThrPheValSerSerLysLysThrGlnTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073677" }, { "coordinates": [ { "allele": "T", "end": 1260, "referenceAllele": "C", "start": 1259 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "XM_006720467.2:c.1015C>T" ], "proteinEffect": { "hgvs": "XP_006720530.1:p.Gln339Ter", "hgvsWellDefined": "XP_006720530.1:p.Gln339_Pro1273delinsArgAsnAlaLysGluAlaGlyGlyAsnTyrThrProAlaLeuThrGluGlnGluValTyrAlaGlnValAlaArgLeuPheLysAsnGlnGluAspLeuLeuSerGluPheGlyGlnPheLeuProAspAlaAsnSerSerValLeuLeuSerLysThrThrAlaGluLysValAspSerValArgAsnAspHisGlyGlyThrValLysLysProGlnLeuAsnAsnLysProGlnArgProSerGlnAsnGlyCysGlnIleArgArgHisProThrGlyThrThrProProValLysLysLysProLysLeuLeuAsnLeuLysAspSerSerMetAlaAspAlaSerLysHisGlyGlyGlyThrGluSerLeuPhePheAspLysValArgLysAlaLeuArgSerAlaGluAlaTyrGluAsnPheLeuArgCysLeuValIlePheAsnGlnGluValIleSerArgAlaGluLeuValGlnLeuValSerProPheLeuGlyLysPheProGluLeuPheAsnTrpPheLysAsnPheLeuGlyTyrLysGluSerValHisLeuGluThrTyrProLysGluArgAlaThrGluGlyIleAlaMetGluIleAspTyrAlaSerCysLysArgLeuGlySerSerTyrArgAlaLeuProLysSerTyrGlnGlnProLysCysThrGlyArgThrProLeuCysLysGluValLeuAsnAspThrTrpValSerPheProSerTrpSerGluAspSerThrPheValSerSerLysLysThrGlnTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073678" }, { "coordinates": [ { "allele": "T", "end": 1080, "referenceAllele": "C", "start": 1079 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "XM_006720465.3:c.1015C>T" ], "proteinEffect": { "hgvs": "XP_006720528.1:p.Gln339Ter", "hgvsWellDefined": "XP_006720528.1:p.Gln339_Pro1273delinsArgAsnAlaLysGluAlaGlyGlyAsnTyrThrProAlaLeuThrGluGlnGluValTyrAlaGlnValAlaArgLeuPheLysAsnGlnGluAspLeuLeuSerGluPheGlyGlnPheLeuProAspAlaAsnSerSerValLeuLeuSerLysThrThrAlaGluLysValAspSerValArgAsnAspHisGlyGlyThrValLysLysProGlnLeuAsnAsnLysProGlnArgProSerGlnAsnGlyCysGlnIleArgArgHisProThrGlyThrThrProProValLysLysLysProLysLeuLeuAsnLeuLysAspSerSerMetAlaAspAlaSerLysHisGlyGlyGlyThrGluSerLeuPhePheAspLysValArgLysAlaLeuArgSerAlaGluAlaTyrGluAsnPheLeuArgCysLeuValIlePheAsnGlnGluValIleSerArgAlaGluLeuValGlnLeuValSerProPheLeuGlyLysPheProGluLeuPheAsnTrpPheLysAsnPheLeuGlyTyrLysGluSerValHisLeuGluThrTyrProLysGluArgAlaThrGluGlyIleAlaMetGluIleAspTyrAlaSerCysLysArgLeuGlySerSerTyrArgAlaLeuProLysSerTyrGlnGlnProLysCysThrGlyArgThrProLeuCysLysGluValLeuAsnAspThrTrpValSerPheProSerTrpSerGluAspSerThrPheValSerSerLysLysThrGlnTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540104" }, { "coordinates": [ { "allele": "T", "end": 1470, "referenceAllele": "C", "start": 1469 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "XM_006720466.3:c.1015C>T" ], "proteinEffect": { "hgvs": "XP_006720529.1:p.Gln339Ter", "hgvsWellDefined": "XP_006720529.1:p.Gln339_Pro1273delinsArgAsnAlaLysGluAlaGlyGlyAsnTyrThrProAlaLeuThrGluGlnGluValTyrAlaGlnValAlaArgLeuPheLysAsnGlnGluAspLeuLeuSerGluPheGlyGlnPheLeuProAspAlaAsnSerSerValLeuLeuSerLysThrThrAlaGluLysValAspSerValArgAsnAspHisGlyGlyThrValLysLysProGlnLeuAsnAsnLysProGlnArgProSerGlnAsnGlyCysGlnIleArgArgHisProThrGlyThrThrProProValLysLysLysProLysLeuLeuAsnLeuLysAspSerSerMetAlaAspAlaSerLysHisGlyGlyGlyThrGluSerLeuPhePheAspLysValArgLysAlaLeuArgSerAlaGluAlaTyrGluAsnPheLeuArgCysLeuValIlePheAsnGlnGluValIleSerArgAlaGluLeuValGlnLeuValSerProPheLeuGlyLysPheProGluLeuPheAsnTrpPheLysAsnPheLeuGlyTyrLysGluSerValHisLeuGluThrTyrProLysGluArgAlaThrGluGlyIleAlaMetGluIleAspTyrAlaSerCysLysArgLeuGlySerSerTyrArgAlaLeuProLysSerTyrGlnGlnProLysCysThrGlyArgThrProLeuCysLysGluValLeuAsnAspThrTrpValSerPheProSerTrpSerGluAspSerThrPheValSerSerLysLysThrGlnTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540105" }, { "coordinates": [ { "allele": "T", "end": 1288, "referenceAllele": "C", "start": 1287 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "XM_006720467.3:c.1015C>T" ], "proteinEffect": { "hgvs": "XP_006720530.1:p.Gln339Ter", "hgvsWellDefined": "XP_006720530.1:p.Gln339_Pro1273delinsArgAsnAlaLysGluAlaGlyGlyAsnTyrThrProAlaLeuThrGluGlnGluValTyrAlaGlnValAlaArgLeuPheLysAsnGlnGluAspLeuLeuSerGluPheGlyGlnPheLeuProAspAlaAsnSerSerValLeuLeuSerLysThrThrAlaGluLysValAspSerValArgAsnAspHisGlyGlyThrValLysLysProGlnLeuAsnAsnLysProGlnArgProSerGlnAsnGlyCysGlnIleArgArgHisProThrGlyThrThrProProValLysLysLysProLysLeuLeuAsnLeuLysAspSerSerMetAlaAspAlaSerLysHisGlyGlyGlyThrGluSerLeuPhePheAspLysValArgLysAlaLeuArgSerAlaGluAlaTyrGluAsnPheLeuArgCysLeuValIlePheAsnGlnGluValIleSerArgAlaGluLeuValGlnLeuValSerProPheLeuGlyLysPheProGluLeuPheAsnTrpPheLysAsnPheLeuGlyTyrLysGluSerValHisLeuGluThrTyrProLysGluArgAlaThrGluGlyIleAlaMetGluIleAspTyrAlaSerCysLysArgLeuGlySerSerTyrArgAlaLeuProLysSerTyrGlnGlnProLysCysThrGlyArgThrProLeuCysLysGluValLeuAsnAspThrTrpValSerPheProSerTrpSerGluAspSerThrPheValSerSerLysLysThrGlnTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540106" }, { "coordinates": [ { "allele": "T", "end": 1211, "referenceAllele": "C", "start": 1210 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "XM_024449896.1:c.1015C>T" ], "proteinEffect": { "hgvs": "XP_024305664.1:p.Gln339Ter", "hgvsWellDefined": "XP_024305664.1:p.Gln339_Pro1273delinsArgAsnAlaLysGluAlaGlyGlyAsnTyrThrProAlaLeuThrGluGlnGluValTyrAlaGlnValAlaArgLeuPheLysAsnGlnGluAspLeuLeuSerGluPheGlyGlnPheLeuProAspAlaAsnSerSerValLeuLeuSerLysThrThrAlaGluLysValAspSerValArgAsnAspHisGlyGlyThrValLysLysProGlnLeuAsnAsnLysProGlnArgProSerGlnAsnGlyCysGlnIleArgArgHisProThrGlyThrThrProProValLysLysLysProLysLeuLeuAsnLeuLysAspSerSerMetAlaAspAlaSerLysHisGlyGlyGlyThrGluSerLeuPhePheAspLysValArgLysAlaLeuArgSerAlaGluAlaTyrGluAsnPheLeuArgCysLeuValIlePheAsnGlnGluValIleSerArgAlaGluLeuValGlnLeuValSerProPheLeuGlyLysPheProGluLeuPheAsnTrpPheLysAsnPheLeuGlyTyrLysGluSerValHisLeuGluThrTyrProLysGluArgAlaThrGluGlyIleAlaMetGluIleAspTyrAlaSerCysLysArgLeuGlySerSerTyrArgAlaLeuProLysSerTyrGlnGlnProLysCysThrGlyArgThrProLeuCysLysGluValLeuAsnAspThrTrpValSerPheProSerTrpSerGluAspSerThrPheValSerSerLysLysThrGlnTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583438" }, { "@id": "http://reg.genome.network/allele/PA2825889650", "coordinates": [ { "allele": "T", "end": 1229, "referenceAllele": "C", "start": 1228 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "NM_001145357.2:c.1015C>T" ], "proteinEffect": { "hgvs": "NP_001138829.1:p.Gln339Ter", "hgvsWellDefined": "NP_001138829.1:p.Gln339_Pro1273delinsArgAsnAlaLysGluAlaGlyGlyAsnTyrThrProAlaLeuThrGluGlnGluValTyrAlaGlnValAlaArgLeuPheLysAsnGlnGluAspLeuLeuSerGluPheGlyGlnPheLeuProAspAlaAsnSerSerValLeuLeuSerLysThrThrAlaGluLysValAspSerValArgAsnAspHisGlyGlyThrValLysLysProGlnLeuAsnAsnLysProGlnArgProSerGlnAsnGlyCysGlnIleArgArgHisProThrGlyThrThrProProValLysLysLysProLysLeuLeuAsnLeuLysAspSerSerMetAlaAspAlaSerLysHisGlyGlyGlyThrGluSerLeuPhePheAspLysValArgLysAlaLeuArgSerAlaGluAlaTyrGluAsnPheLeuArgCysLeuValIlePheAsnGlnGluValIleSerArgAlaGluLeuValGlnLeuValSerProPheLeuGlyLysPheProGluLeuPheAsnTrpPheLysAsnPheLeuGlyTyrLysGluSerValHisLeuGluThrTyrProLysGluArgAlaThrGluGlyIleAlaMetGluIleAspTyrAlaSerCysLysArgLeuGlySerSerTyrArgAlaLeuProLysSerTyrGlnGlnProLysCysThrGlyArgThrProLeuCysLysGluValLeuAsnAspThrTrpValSerPheProSerTrpSerGluAspSerThrPheValSerSerLysLysThrGlnTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677870" }, { "@id": "http://reg.genome.network/allele/PA2825890023", "coordinates": [ { "allele": "T", "end": 1316, "referenceAllele": "C", "start": 1315 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "NM_001145358.2:c.1015C>T" ], "proteinEffect": { "hgvs": "NP_001138830.1:p.Gln339Ter", "hgvsWellDefined": "NP_001138830.1:p.Gln339_Pro1273delinsArgAsnAlaLysGluAlaGlyGlyAsnTyrThrProAlaLeuThrGluGlnGluValTyrAlaGlnValAlaArgLeuPheLysAsnGlnGluAspLeuLeuSerGluPheGlyGlnPheLeuProAspAlaAsnSerSerValLeuLeuSerLysThrThrAlaGluLysValAspSerValArgAsnAspHisGlyGlyThrValLysLysProGlnLeuAsnAsnLysProGlnArgProSerGlnAsnGlyCysGlnIleArgArgHisProThrGlyThrThrProProValLysLysLysProLysLeuLeuAsnLeuLysAspSerSerMetAlaAspAlaSerLysHisGlyGlyGlyThrGluSerLeuPhePheAspLysValArgLysAlaLeuArgSerAlaGluAlaTyrGluAsnPheLeuArgCysLeuValIlePheAsnGlnGluValIleSerArgAlaGluLeuValGlnLeuValSerProPheLeuGlyLysPheProGluLeuPheAsnTrpPheLysAsnPheLeuGlyTyrLysGluSerValHisLeuGluThrTyrProLysGluArgAlaThrGluGlyIleAlaMetGluIleAspTyrAlaSerCysLysArgLeuGlySerSerTyrArgAlaLeuProLysSerTyrGlnGlnProLysCysThrGlyArgThrProLeuCysLysGluValLeuAsnAspThrTrpValSerPheProSerTrpSerGluAspSerThrPheValSerSerLysLysThrGlnTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677871", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000394947.8:c.1015C>T" }, "RefSeq": { "hgvs": "NM_001145358.2:c.1015C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000378402.3:p.Gln339Ter" }, "RefSeq": { "hgvs": "NP_001138830.1:p.Gln339Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2499281361", "coordinates": [ { "allele": "T", "end": 1379, "referenceAllele": "C", "start": 1378 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "NM_015477.3:c.1015C>T" ], "proteinEffect": { "hgvs": "NP_056292.1:p.Gln339Ter", "hgvsWellDefined": "NP_056292.1:p.Gln339_Pro1273delinsArgAsnAlaLysGluAlaGlyGlyAsnTyrThrProAlaLeuThrGluGlnGluValTyrAlaGlnValAlaArgLeuPheLysAsnGlnGluAspLeuLeuSerGluPheGlyGlnPheLeuProAspAlaAsnSerSerValLeuLeuSerLysThrThrAlaGluLysValAspSerValArgAsnAspHisGlyGlyThrValLysLysProGlnLeuAsnAsnLysProGlnArgProSerGlnAsnGlyCysGlnIleArgArgHisProThrGlyThrThrProProValLysLysLysProLysLeuLeuAsnLeuLysAspSerSerMetAlaAspAlaSerLysHisGlyGlyGlyThrGluSerLeuPhePheAspLysValArgLysAlaLeuArgSerAlaGluAlaTyrGluAsnPheLeuArgCysLeuValIlePheAsnGlnGluValIleSerArgAlaGluLeuValGlnLeuValSerProPheLeuGlyLysPheProGluLeuPheAsnTrpPheLysAsnPheLeuGlyTyrLysGluSerValHisLeuGluThrTyrProLysGluArgAlaThrGluGlyIleAlaMetGluIleAspTyrAlaSerCysLysArgLeuGlySerSerTyrArgAlaLeuProLysSerTyrGlnGlnProLysCysThrGlyArgThrProLeuCysLysGluValLeuAsnAspThrTrpValSerPheProSerTrpSerGluAspSerThrPheValSerSerLysLysThrGlnTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697553" } ], "type": "nucleotide" }