{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA009299", "communityStandardTitle": [ "NM_000179.3(MSH6):c.1835C>A (p.Ser612Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=94701[alleleid]", "alleleId": 94701, "preferredName": "NM_000179.3(MSH6):c.1835C>A (p.Ser612Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/89227", "RCV": [ "RCV000074690", "RCV003593866", "RCV002408572", "RCV003450933" ], "variationId": 89227 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.48026957C>A?assembly=hg19", "id": "chr2:g.48026957C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.47799818C>A?assembly=hg38", "id": "chr2:g.47799818C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/63750564", "rs": 63750564 } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 47799818, "referenceAllele": "C", "start": 47799817 } ], "hgvs": [ "NC_000002.12:g.47799818C>A", "CM000664.2:g.47799818C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 48026957, "referenceAllele": "C", "start": 48026956 } ], "hgvs": [ "NC_000002.11:g.48026957C>A", "CM000664.1:g.48026957C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 47880461, "referenceAllele": "C", "start": 47880460 } ], "hgvs": [ "NC_000002.10:g.47880461C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "A", "end": 21672, "referenceAllele": "C", "start": 21671 } ], "hgvs": [ "NG_007111.1:g.21672C>A", "LRG_219:g.21672C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000487" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1633, "referenceAllele": "C", "start": 1632 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000411819.2:c.1538C>A" ], "proteinEffect": { "hgvs": "ENSP00000406248.2:p.Ser513Ter", "hgvsWellDefined": "ENSP00000406248.2:p.Ser513_Leu1261delinsLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914023" }, { "coordinates": [ { "allele": "A", "end": 1765, "referenceAllele": "C", "start": 1764 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000420813.6:c.1538C>A" ], "proteinEffect": { "hgvs": "ENSP00000390382.2:p.Ser513Ter", "hgvsWellDefined": "ENSP00000390382.2:p.Ser513_Leu1261delinsLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914038" }, { "coordinates": [ { "allele": "A", "end": 1769, "referenceAllele": "C", "start": 1768 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000455383.6:c.1538C>A" ], "proteinEffect": { "hgvs": "ENSP00000397484.2:p.Ser513Ter", "hgvsWellDefined": "ENSP00000397484.2:p.Ser513_Leu1261delinsLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914094" }, { "coordinates": [ { "allele": "A", "end": 1919, "referenceAllele": "C", "start": 1918 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000700004.2:c.1835C>A" ], "proteinEffect": { "hgvs": "ENSP00000514752.2:p.Ser612Ter", "hgvsWellDefined": "ENSP00000514752.2:p.Ser612_Leu1232delinsLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914477" }, { "coordinates": [ { "allele": "A", "end": 1919, "referenceAllele": "C", "start": 1918 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000699999.1:n.1919C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS910870" }, { "coordinates": [ { "allele": "A", "end": 1689, "endIntronDirection": "+", "endIntronOffset": 229, "referenceAllele": "C", "start": 1689, "startIntronDirection": "+", "startIntronOffset": 228 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000700000.1:c.1606+229C>A" ], "proteinEffect": { "hgvs": "ENSP00000514749.1:n.1606+229C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS910871" }, { "coordinates": [ { "allele": "A", "end": 1913, "referenceAllele": "C", "start": 1912 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000700002.1:c.1841C>A" ], "proteinEffect": { "hgvs": "ENSP00000514750.1:p.Ser614Ter", "hgvsWellDefined": "ENSP00000514750.1:p.Ser614_Leu1362delinsLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910873" }, { "coordinates": [ { "allele": "A", "end": 627, "endIntronDirection": "-", "endIntronOffset": 3601, "referenceAllele": "C", "start": 627, "startIntronDirection": "-", "startIntronOffset": 3602 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000700003.1:c.628-3602C>A" ], "proteinEffect": { "hgvs": "ENSP00000514751.1:n.628-3602C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS910874" }, { "coordinates": [ { "allele": "A", "end": 992, "referenceAllele": "C", "start": 991 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000700004.1:c.992C>A" ], "proteinEffect": { "hgvs": "ENSP00000514752.1:p.Ser331Ter", "hgvsWellDefined": "ENSP00000514752.1:p.Ser331_Leu951delinsLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910875" }, { "coordinates": [ { "allele": "A", "end": 1924, "referenceAllele": "C", "start": 1923 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000234420.11:c.1835C>A" ], "proteinEffect": { "hgvs": "ENSP00000234420.5:p.Ser612Ter", "hgvsWellDefined": "ENSP00000234420.5:p.Ser612_Leu1360delinsLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS740955", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000234420.11:c.1835C>A" }, "RefSeq": { "hgvs": "NM_000179.3:c.1835C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000234420.5:p.Ser612Ter" }, "RefSeq": { "hgvs": "NP_000170.1:p.Ser612Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1496, "referenceAllele": "C", "start": 1495 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000540021.6:c.1445C>A" ], "proteinEffect": { "hgvs": "ENSP00000446475.1:p.Ser482Ter", "hgvsWellDefined": "ENSP00000446475.1:p.Ser482_Leu1230delinsLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759617" }, { "coordinates": [ { "allele": "A", "end": 2218, "referenceAllele": "C", "start": 2217 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000652107.1:c.1538C>A" ], "proteinEffect": { "hgvs": "ENSP00000498629.1:p.Ser513Ter", "hgvsWellDefined": "ENSP00000498629.1:p.Ser513_Leu1261delinsLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS772029" }, { "coordinates": [ { "allele": "A", "end": 1656, "referenceAllele": "C", "start": 1655 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000673637.1:c.1538C>A" ], "proteinEffect": { "hgvs": "ENSP00000501310.1:p.Ser513Ter", "hgvsWellDefined": "ENSP00000501310.1:p.Ser513_Leu1261delinsLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773747" }, { "coordinates": [ { "allele": "A", "end": 1987, "referenceAllele": "C", "start": 1986 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000234420.9:c.1835C>A" ], "proteinEffect": { "hgvs": "ENSP00000234420.4:p.Ser612Ter", "hgvsWellDefined": "ENSP00000234420.4:p.Ser612_Leu1360delinsLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247309" }, { "coordinates": [ { "allele": "T", "end": 180, "endIntronDirection": "+", "endIntronOffset": 8377, "referenceAllele": "G", "start": 180, "startIntronDirection": "+", "startIntronOffset": 8376 } ], "gene": "http://reg.genome.network/gene/GN013590", "geneNCBI_id": 80204, "geneSymbol": "FBXO11", "hgvs": [ "ENST00000405808.5:c.169+8377G>T" ], "proteinEffect": { "hgvs": "ENSP00000385127.1:n.169+8377G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS247134" }, { "coordinates": [ { "allele": "T", "end": 447, "endIntronDirection": "+", "endIntronOffset": 8176, "referenceAllele": "G", "start": 447, "startIntronDirection": "+", "startIntronOffset": 8175 } ], "gene": "http://reg.genome.network/gene/GN013590", "geneNCBI_id": 80204, "geneSymbol": "FBXO11", "hgvs": [ "ENST00000434234.5:c.*124+8176G>T" ], "proteinEffect": { "hgvs": "ENSP00000402692.1:n.*124+8176G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS292930" }, { "coordinates": [ { "allele": "A", "end": 1817, "referenceAllele": "C", "start": 1816 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000445503.5:c.*1182C>A" ], "proteinEffect": { "hgvs": "ENSP00000405294.1:n.*1182C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS298311" }, { "coordinates": [ { "allele": "A", "end": 1722, "referenceAllele": "C", "start": 1721 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000538136.1:c.929C>A" ], "proteinEffect": { "hgvs": "ENSP00000438580.1:p.Ser310Ter", "hgvsWellDefined": "ENSP00000438580.1:p.Ser310_Leu1058delinsLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247195" }, { "coordinates": [ { "allele": "A", "end": 1597, "referenceAllele": "C", "start": 1596 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000540021.5:c.1445C>A" ], "proteinEffect": { "hgvs": "ENSP00000446475.1:p.Ser482Ter", "hgvsWellDefined": "ENSP00000446475.1:p.Ser482_Leu1230delinsLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247186" }, { "coordinates": [ { "allele": "A", "end": 1817, "referenceAllele": "C", "start": 1816 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000614496.4:c.929C>A" ], "proteinEffect": { "hgvs": "ENSP00000477844.1:p.Ser310Ter", "hgvsWellDefined": "ENSP00000477844.1:p.Ser310_Leu1058delinsLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS402225" }, { "coordinates": [ { "allele": "A", "end": 1915, "referenceAllele": "C", "start": 1914 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000616033.4:c.1832C>A" ], "proteinEffect": { "hgvs": "ENSP00000480261.1:p.Ser611Ter", "hgvsWellDefined": "ENSP00000480261.1:p.Ser611_Leu1067delinsLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuGlyLysThrLeuAsnLysLeuValLeuArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS402884" }, { "coordinates": [ { "allele": "A", "end": 1987, "referenceAllele": "C", "start": 1986 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000622629.4:c.-1262C>A" ], "proteinEffect": { "hgvs": "ENSP00000482078.1:n.-1262C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS405814" }, { "@id": "http://reg.genome.network/allele/PA330391", "coordinates": [ { "allele": "A", "end": 1987, "referenceAllele": "C", "start": 1986 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "NM_000179.2:c.1835C>A", "LRG_219t1:c.1835C>A" ], "proteinEffect": { "hgvs": "NP_000170.1:p.Ser612Ter", "hgvsWellDefined": "NP_000170.1:p.Ser612_Leu1360delinsLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006241" }, { "@id": "http://reg.genome.network/allele/PA2826626461", "coordinates": [ { "allele": "A", "end": 1597, "referenceAllele": "C", "start": 1596 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "NM_001281492.1:c.1445C>A" ], "proteinEffect": { "hgvs": "NP_001268421.1:p.Ser482Ter", "hgvsWellDefined": "NP_001268421.1:p.Ser482_Leu1230delinsLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS021654" }, { "@id": "http://reg.genome.network/allele/PA2826630808", "coordinates": [ { "allele": "A", "end": 1817, "referenceAllele": "C", "start": 1816 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "NM_001281493.1:c.929C>A" ], "proteinEffect": { "hgvs": "NP_001268422.1:p.Ser310Ter", "hgvsWellDefined": "NP_001268422.1:p.Ser310_Leu1058delinsLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS021655" }, { "@id": "http://reg.genome.network/allele/PA2826635337", "coordinates": [ { "allele": "A", "end": 1722, "referenceAllele": "C", "start": 1721 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "NM_001281494.1:c.929C>A" ], "proteinEffect": { "hgvs": "NP_001268423.1:p.Ser310Ter", "hgvsWellDefined": "NP_001268423.1:p.Ser310_Leu1058delinsLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS021656" }, { "coordinates": [ { "allele": "A", "end": 1633, "referenceAllele": "C", "start": 1632 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "XM_005264271.1:c.1538C>A" ], "proteinEffect": { "hgvs": "XP_005264328.1:p.Ser513Ter", "hgvsWellDefined": "XP_005264328.1:p.Ser513_Leu1261delinsLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064144" }, { "coordinates": [ { "allele": "A", "end": 1694, "referenceAllele": "C", "start": 1693 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "XM_011532798.1:c.1652C>A" ], "proteinEffect": { "hgvs": "XP_011531100.1:p.Ser551Ter", "hgvsWellDefined": "XP_011531100.1:p.Ser551_Leu1299delinsLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS099824" }, { "coordinates": [ { "allele": "A", "end": 1769, "referenceAllele": "C", "start": 1768 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "XM_011532799.1:c.1538C>A" ], "proteinEffect": { "hgvs": "XP_011531101.1:p.Ser513Ter", "hgvsWellDefined": "XP_011531101.1:p.Ser513_Leu1261delinsLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS099825" }, { "coordinates": [ { "allele": "A", "end": 1650, "referenceAllele": "C", "start": 1649 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "XM_011532800.1:c.1538C>A" ], "proteinEffect": { "hgvs": "XP_011531102.1:p.Ser513Ter", "hgvsWellDefined": "XP_011531102.1:p.Ser513_Leu1261delinsLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS099826" }, { "coordinates": [ { "allele": "A", "end": 1924, "referenceAllele": "C", "start": 1923 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "XM_024452819.1:c.1835C>A" ], "proteinEffect": { "hgvs": "XP_024308587.1:p.Ser612Ter", "hgvsWellDefined": "XP_024308587.1:p.Ser612_Leu1391delinsLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetValCysAlaAsnCysPhePheProGlnIleArgPhePheGluArgAlaLeuLeuLeuLeuAlaHisValSerLeuIlePhePhePheLeuLysAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS586209" }, { "coordinates": [ { "allele": "A", "end": 1694, "referenceAllele": "C", "start": 1693 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "XM_024452820.1:c.1652C>A" ], "proteinEffect": { "hgvs": "XP_024308588.1:p.Ser551Ter", "hgvsWellDefined": "XP_024308588.1:p.Ser551_Leu1330delinsLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetValCysAlaAsnCysPhePheProGlnIleArgPhePheGluArgAlaLeuLeuLeuLeuAlaHisValSerLeuIlePhePhePheLeuLysAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS586210" }, { "coordinates": [ { "allele": "A", "end": 1769, "referenceAllele": "C", "start": 1768 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "XM_024452821.1:c.1538C>A" ], "proteinEffect": { "hgvs": "XP_024308589.1:p.Ser513Ter", "hgvsWellDefined": "XP_024308589.1:p.Ser513_Leu1292delinsLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetValCysAlaAsnCysPhePheProGlnIleArgPhePheGluArgAlaLeuLeuLeuLeuAlaHisValSerLeuIlePhePhePheLeuLysAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS586211" }, { "coordinates": [ { "allele": "A", "end": 1721, "referenceAllele": "C", "start": 1720 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "XM_024452822.1:c.929C>A" ], "proteinEffect": { "hgvs": "XP_024308590.1:p.Ser310Ter", "hgvsWellDefined": "XP_024308590.1:p.Ser310_Leu1089delinsLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetValCysAlaAsnCysPhePheProGlnIleArgPhePheGluArgAlaLeuLeuLeuLeuAlaHisValSerLeuIlePhePhePheLeuLysAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS586212" }, { "@id": "http://reg.genome.network/allele/PA330391", "coordinates": [ { "allele": "A", "end": 1924, "referenceAllele": "C", "start": 1923 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "NM_000179.3:c.1835C>A" ], "proteinEffect": { "hgvs": "NP_000170.1:p.Ser612Ter", "hgvsWellDefined": "NP_000170.1:p.Ser612_Leu1360delinsLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674738", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000234420.11:c.1835C>A" }, "RefSeq": { "hgvs": "NM_000179.3:c.1835C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000234420.5:p.Ser612Ter" }, "RefSeq": { "hgvs": "NP_000170.1:p.Ser612Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826626461", "coordinates": [ { "allele": "A", "end": 1534, "referenceAllele": "C", "start": 1533 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "NM_001281492.2:c.1445C>A" ], "proteinEffect": { "hgvs": "NP_001268421.1:p.Ser482Ter", "hgvsWellDefined": "NP_001268421.1:p.Ser482_Leu1230delinsLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715702" }, { "@id": "http://reg.genome.network/allele/PA2826630808", "coordinates": [ { "allele": "A", "end": 1754, "referenceAllele": "C", "start": 1753 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "NM_001281493.2:c.929C>A" ], "proteinEffect": { "hgvs": "NP_001268422.1:p.Ser310Ter", "hgvsWellDefined": "NP_001268422.1:p.Ser310_Leu1058delinsLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715703" }, { "@id": "http://reg.genome.network/allele/PA2826635337", "coordinates": [ { "allele": "A", "end": 1722, "referenceAllele": "C", "start": 1721 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "NM_001281494.2:c.929C>A" ], "proteinEffect": { "hgvs": "NP_001268423.1:p.Ser310Ter", "hgvsWellDefined": "NP_001268423.1:p.Ser310_Leu1058delinsLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715704" } ], "type": "nucleotide" }