{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA008701", "communityStandardTitle": [ "NM_000179.3(MSH6):c.1483C>T (p.Arg495Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=29732", "active": true, "id": "COSM29732" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=94671[alleleid]", "alleleId": 94671, "preferredName": "NM_000179.3(MSH6):c.1483C>T (p.Arg495Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/89197", "RCV": [ "RCV000074659", "RCV000131420", "RCV000202276", "RCV000524112", "RCV001249984", "RCV001353858", "RCV003460662", "RCV003334381" ], "variationId": 89197 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.48026605C>T?assembly=hg19", "id": "chr2:g.48026605C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.47799466C>T?assembly=hg38", "id": "chr2:g.47799466C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/587779212", "rs": 587779212 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-48026605-C-T?dataset=gnomad_r2_1", "id": "2-48026605-C-T", "variant": "2:48026605 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-47799466-C-T?dataset=gnomad_r4", "id": "2-47799466-C-T", "variant": "2:47799466 C / T" } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 47799466, "referenceAllele": "C", "start": 47799465 } ], "hgvs": [ "NC_000002.12:g.47799466C>T", "CM000664.2:g.47799466C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 48026605, "referenceAllele": "C", "start": 48026604 } ], "hgvs": [ "NC_000002.11:g.48026605C>T", "CM000664.1:g.48026605C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 47880109, "referenceAllele": "C", "start": 47880108 } ], "hgvs": [ "NC_000002.10:g.47880109C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "T", "end": 21320, "referenceAllele": "C", "start": 21319 } ], "hgvs": [ "NG_007111.1:g.21320C>T", "LRG_219:g.21320C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000487" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1281, "referenceAllele": "C", "start": 1280 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000411819.2:c.1186C>T" ], "proteinEffect": { "hgvs": "ENSP00000406248.2:p.Arg396Ter", "hgvsWellDefined": "ENSP00000406248.2:p.Arg396_Leu1261delinsCysArgLysMetAlaHisIleSerLysTyrAspArgValValArgArgGluIleCysArgIleIleThrLysGlyThrGlnThrTyrSerValLeuGluGlyAspProSerGluAsnTyrSerLysTyrLeuLeuSerLeuLysGluLysGluGluAspSerSerGlyHisThrArgAlaTyrGlyValCysPheValAspThrSerLeuGlyLysPhePheIleGlyGlnPheSerAspAspArgHisCysSerArgPheArgThrLeuValAlaHisTyrProProValGlnValLeuPheGluLysGlyAsnLeuSerLysGluThrLysThrIleLeuLysSerSerLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914023" }, { "coordinates": [ { "allele": "T", "end": 1413, "referenceAllele": "C", "start": 1412 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000420813.6:c.1186C>T" ], "proteinEffect": { "hgvs": "ENSP00000390382.2:p.Arg396Ter", "hgvsWellDefined": "ENSP00000390382.2:p.Arg396_Leu1261delinsCysArgLysMetAlaHisIleSerLysTyrAspArgValValArgArgGluIleCysArgIleIleThrLysGlyThrGlnThrTyrSerValLeuGluGlyAspProSerGluAsnTyrSerLysTyrLeuLeuSerLeuLysGluLysGluGluAspSerSerGlyHisThrArgAlaTyrGlyValCysPheValAspThrSerLeuGlyLysPhePheIleGlyGlnPheSerAspAspArgHisCysSerArgPheArgThrLeuValAlaHisTyrProProValGlnValLeuPheGluLysGlyAsnLeuSerLysGluThrLysThrIleLeuLysSerSerLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914038" }, { "coordinates": [ { "allele": "T", "end": 1417, "referenceAllele": "C", "start": 1416 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000455383.6:c.1186C>T" ], "proteinEffect": { "hgvs": "ENSP00000397484.2:p.Arg396Ter", "hgvsWellDefined": "ENSP00000397484.2:p.Arg396_Leu1261delinsCysArgLysMetAlaHisIleSerLysTyrAspArgValValArgArgGluIleCysArgIleIleThrLysGlyThrGlnThrTyrSerValLeuGluGlyAspProSerGluAsnTyrSerLysTyrLeuLeuSerLeuLysGluLysGluGluAspSerSerGlyHisThrArgAlaTyrGlyValCysPheValAspThrSerLeuGlyLysPhePheIleGlyGlnPheSerAspAspArgHisCysSerArgPheArgThrLeuValAlaHisTyrProProValGlnValLeuPheGluLysGlyAsnLeuSerLysGluThrLysThrIleLeuLysSerSerLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914094" }, { "coordinates": [ { "allele": "T", "end": 1567, "referenceAllele": "C", "start": 1566 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000700004.2:c.1483C>T" ], "proteinEffect": { "hgvs": "ENSP00000514752.2:p.Arg495Ter", "hgvsWellDefined": "ENSP00000514752.2:p.Arg495_Leu1232delinsCysArgLysMetAlaHisIleSerLysTyrAspArgValValArgArgGluIleCysArgIleIleThrLysGlyThrGlnThrTyrSerValLeuGluGlyAspProSerGluAsnTyrSerLysTyrLeuLeuSerLeuLysGluLysGluGluAspSerSerGlyHisThrArgAlaTyrGlyValCysPheValAspThrSerLeuGlyLysPhePheIleGlyGlnPheSerAspAspArgHisCysSerArgPheArgThrLeuValAlaHisTyrProProValGlnValLeuPheGluLysGlyAsnLeuSerLysGluThrLysThrIleLeuLysSerSerLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914477" }, { "coordinates": [ { "allele": "T", "end": 1567, "referenceAllele": "C", "start": 1566 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000699999.1:n.1567C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS910870" }, { "coordinates": [ { "allele": "T", "end": 1566, "referenceAllele": "C", "start": 1565 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000700000.1:c.1483C>T" ], "proteinEffect": { "hgvs": "ENSP00000514749.1:p.Arg495Ter", "hgvsWellDefined": "ENSP00000514749.1:p.Arg495_Leu838delinsCysArgLysMetAlaHisIleSerLysTyrAspArgValValArgArgGluIleCysArgIleIleThrLysGlyThrGlnThrTyrSerValLeuGluGlyAspProSerGluAsnTyrAsnValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910871" }, { "coordinates": [ { "allele": "T", "end": 1561, "referenceAllele": "C", "start": 1560 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000700002.1:c.1489C>T" ], "proteinEffect": { "hgvs": "ENSP00000514750.1:p.Arg497Ter", "hgvsWellDefined": "ENSP00000514750.1:p.Arg497_Leu1362delinsCysArgLysMetAlaHisIleSerLysTyrAspArgValValArgArgGluIleCysArgIleIleThrLysGlyThrGlnThrTyrSerValLeuGluGlyAspProSerGluAsnTyrSerLysTyrLeuLeuSerLeuLysGluLysGluGluAspSerSerGlyHisThrArgAlaTyrGlyValCysPheValAspThrSerLeuGlyLysPhePheIleGlyGlnPheSerAspAspArgHisCysSerArgPheArgThrLeuValAlaHisTyrProProValGlnValLeuPheGluLysGlyAsnLeuSerLysGluThrLysThrIleLeuLysSerSerLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910873" }, { "coordinates": [ { "allele": "T", "end": 627, "endIntronDirection": "+", "endIntronOffset": 3403, "referenceAllele": "C", "start": 627, "startIntronDirection": "+", "startIntronOffset": 3402 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000700003.1:c.627+3403C>T" ], "proteinEffect": { "hgvs": "ENSP00000514751.1:n.627+3403C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS910874" }, { "coordinates": [ { "allele": "T", "end": 640, "referenceAllele": "C", "start": 639 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000700004.1:c.640C>T" ], "proteinEffect": { "hgvs": "ENSP00000514752.1:p.Arg214Ter", "hgvsWellDefined": "ENSP00000514752.1:p.Arg214_Leu951delinsCysArgLysMetAlaHisIleSerLysTyrAspArgValValArgArgGluIleCysArgIleIleThrLysGlyThrGlnThrTyrSerValLeuGluGlyAspProSerGluAsnTyrSerLysTyrLeuLeuSerLeuLysGluLysGluGluAspSerSerGlyHisThrArgAlaTyrGlyValCysPheValAspThrSerLeuGlyLysPhePheIleGlyGlnPheSerAspAspArgHisCysSerArgPheArgThrLeuValAlaHisTyrProProValGlnValLeuPheGluLysGlyAsnLeuSerLysGluThrLysThrIleLeuLysSerSerLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910875" }, { "coordinates": [ { "allele": "T", "end": 1572, "referenceAllele": "C", "start": 1571 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000234420.11:c.1483C>T" ], "proteinEffect": { "hgvs": "ENSP00000234420.5:p.Arg495Ter", "hgvsWellDefined": "ENSP00000234420.5:p.Arg495_Leu1360delinsCysArgLysMetAlaHisIleSerLysTyrAspArgValValArgArgGluIleCysArgIleIleThrLysGlyThrGlnThrTyrSerValLeuGluGlyAspProSerGluAsnTyrSerLysTyrLeuLeuSerLeuLysGluLysGluGluAspSerSerGlyHisThrArgAlaTyrGlyValCysPheValAspThrSerLeuGlyLysPhePheIleGlyGlnPheSerAspAspArgHisCysSerArgPheArgThrLeuValAlaHisTyrProProValGlnValLeuPheGluLysGlyAsnLeuSerLysGluThrLysThrIleLeuLysSerSerLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS740955", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000234420.11:c.1483C>T" }, "RefSeq": { "hgvs": "NM_000179.3:c.1483C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000234420.5:p.Arg495Ter" }, "RefSeq": { "hgvs": "NP_000170.1:p.Arg495Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1144, "referenceAllele": "C", "start": 1143 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000540021.6:c.1093C>T" ], "proteinEffect": { "hgvs": "ENSP00000446475.1:p.Arg365Ter", "hgvsWellDefined": "ENSP00000446475.1:p.Arg365_Leu1230delinsCysArgLysMetAlaHisIleSerLysTyrAspArgValValArgArgGluIleCysArgIleIleThrLysGlyThrGlnThrTyrSerValLeuGluGlyAspProSerGluAsnTyrSerLysTyrLeuLeuSerLeuLysGluLysGluGluAspSerSerGlyHisThrArgAlaTyrGlyValCysPheValAspThrSerLeuGlyLysPhePheIleGlyGlnPheSerAspAspArgHisCysSerArgPheArgThrLeuValAlaHisTyrProProValGlnValLeuPheGluLysGlyAsnLeuSerLysGluThrLysThrIleLeuLysSerSerLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759617" }, { "coordinates": [ { "allele": "T", "end": 1866, "referenceAllele": "C", "start": 1865 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000652107.1:c.1186C>T" ], "proteinEffect": { "hgvs": "ENSP00000498629.1:p.Arg396Ter", "hgvsWellDefined": "ENSP00000498629.1:p.Arg396_Leu1261delinsCysArgLysMetAlaHisIleSerLysTyrAspArgValValArgArgGluIleCysArgIleIleThrLysGlyThrGlnThrTyrSerValLeuGluGlyAspProSerGluAsnTyrSerLysTyrLeuLeuSerLeuLysGluLysGluGluAspSerSerGlyHisThrArgAlaTyrGlyValCysPheValAspThrSerLeuGlyLysPhePheIleGlyGlnPheSerAspAspArgHisCysSerArgPheArgThrLeuValAlaHisTyrProProValGlnValLeuPheGluLysGlyAsnLeuSerLysGluThrLysThrIleLeuLysSerSerLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS772029" }, { "coordinates": [ { "allele": "T", "end": 1304, "referenceAllele": "C", "start": 1303 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000673637.1:c.1186C>T" ], "proteinEffect": { "hgvs": "ENSP00000501310.1:p.Arg396Ter", "hgvsWellDefined": "ENSP00000501310.1:p.Arg396_Leu1261delinsCysArgLysMetAlaHisIleSerLysTyrAspArgValValArgArgGluIleCysArgIleIleThrLysGlyThrGlnThrTyrSerValLeuGluGlyAspProSerGluAsnTyrSerLysTyrLeuLeuSerLeuLysGluLysGluGluAspSerSerGlyHisThrArgAlaTyrGlyValCysPheValAspThrSerLeuGlyLysPhePheIleGlyGlnPheSerAspAspArgHisCysSerArgPheArgThrLeuValAlaHisTyrProProValGlnValLeuPheGluLysGlyAsnLeuSerLysGluThrLysThrIleLeuLysSerSerLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773747" }, { "coordinates": [ { "allele": "T", "end": 1635, "referenceAllele": "C", "start": 1634 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000234420.9:c.1483C>T" ], "proteinEffect": { "hgvs": "ENSP00000234420.4:p.Arg495Ter", "hgvsWellDefined": "ENSP00000234420.4:p.Arg495_Leu1360delinsCysArgLysMetAlaHisIleSerLysTyrAspArgValValArgArgGluIleCysArgIleIleThrLysGlyThrGlnThrTyrSerValLeuGluGlyAspProSerGluAsnTyrSerLysTyrLeuLeuSerLeuLysGluLysGluGluAspSerSerGlyHisThrArgAlaTyrGlyValCysPheValAspThrSerLeuGlyLysPhePheIleGlyGlnPheSerAspAspArgHisCysSerArgPheArgThrLeuValAlaHisTyrProProValGlnValLeuPheGluLysGlyAsnLeuSerLysGluThrLysThrIleLeuLysSerSerLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247309" }, { "coordinates": [ { "allele": "A", "end": 180, "endIntronDirection": "+", "endIntronOffset": 8729, "referenceAllele": "G", "start": 180, "startIntronDirection": "+", "startIntronOffset": 8728 } ], "gene": "http://reg.genome.network/gene/GN013590", "geneNCBI_id": 80204, "geneSymbol": "FBXO11", "hgvs": [ "ENST00000405808.5:c.169+8729G>A" ], "proteinEffect": { "hgvs": "ENSP00000385127.1:n.169+8729G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS247134" }, { "coordinates": [ { "allele": "A", "end": 447, "endIntronDirection": "+", "endIntronOffset": 8528, "referenceAllele": "G", "start": 447, "startIntronDirection": "+", "startIntronOffset": 8527 } ], "gene": "http://reg.genome.network/gene/GN013590", "geneNCBI_id": 80204, "geneSymbol": "FBXO11", "hgvs": [ "ENST00000434234.5:c.*124+8528G>A" ], "proteinEffect": { "hgvs": "ENSP00000402692.1:n.*124+8528G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS292930" }, { "coordinates": [ { "allele": "T", "end": 1465, "referenceAllele": "C", "start": 1464 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000445503.5:c.*830C>T" ], "proteinEffect": { "hgvs": "ENSP00000405294.1:n.*830C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS298311" }, { "coordinates": [ { "allele": "T", "end": 1370, "referenceAllele": "C", "start": 1369 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000538136.1:c.577C>T" ], "proteinEffect": { "hgvs": "ENSP00000438580.1:p.Arg193Ter", "hgvsWellDefined": "ENSP00000438580.1:p.Arg193_Leu1058delinsCysArgLysMetAlaHisIleSerLysTyrAspArgValValArgArgGluIleCysArgIleIleThrLysGlyThrGlnThrTyrSerValLeuGluGlyAspProSerGluAsnTyrSerLysTyrLeuLeuSerLeuLysGluLysGluGluAspSerSerGlyHisThrArgAlaTyrGlyValCysPheValAspThrSerLeuGlyLysPhePheIleGlyGlnPheSerAspAspArgHisCysSerArgPheArgThrLeuValAlaHisTyrProProValGlnValLeuPheGluLysGlyAsnLeuSerLysGluThrLysThrIleLeuLysSerSerLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247195" }, { "coordinates": [ { "allele": "T", "end": 1245, "referenceAllele": "C", "start": 1244 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000540021.5:c.1093C>T" ], "proteinEffect": { "hgvs": "ENSP00000446475.1:p.Arg365Ter", "hgvsWellDefined": "ENSP00000446475.1:p.Arg365_Leu1230delinsCysArgLysMetAlaHisIleSerLysTyrAspArgValValArgArgGluIleCysArgIleIleThrLysGlyThrGlnThrTyrSerValLeuGluGlyAspProSerGluAsnTyrSerLysTyrLeuLeuSerLeuLysGluLysGluGluAspSerSerGlyHisThrArgAlaTyrGlyValCysPheValAspThrSerLeuGlyLysPhePheIleGlyGlnPheSerAspAspArgHisCysSerArgPheArgThrLeuValAlaHisTyrProProValGlnValLeuPheGluLysGlyAsnLeuSerLysGluThrLysThrIleLeuLysSerSerLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247186" }, { "coordinates": [ { "allele": "T", "end": 1465, "referenceAllele": "C", "start": 1464 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000614496.4:c.577C>T" ], "proteinEffect": { "hgvs": "ENSP00000477844.1:p.Arg193Ter", "hgvsWellDefined": "ENSP00000477844.1:p.Arg193_Leu1058delinsCysArgLysMetAlaHisIleSerLysTyrAspArgValValArgArgGluIleCysArgIleIleThrLysGlyThrGlnThrTyrSerValLeuGluGlyAspProSerGluAsnTyrSerLysTyrLeuLeuSerLeuLysGluLysGluGluAspSerSerGlyHisThrArgAlaTyrGlyValCysPheValAspThrSerLeuGlyLysPhePheIleGlyGlnPheSerAspAspArgHisCysSerArgPheArgThrLeuValAlaHisTyrProProValGlnValLeuPheGluLysGlyAsnLeuSerLysGluThrLysThrIleLeuLysSerSerLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS402225" }, { "coordinates": [ { "allele": "T", "end": 1563, "referenceAllele": "C", "start": 1562 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000616033.4:c.1480C>T" ], "proteinEffect": { "hgvs": "ENSP00000480261.1:p.Arg494Ter", "hgvsWellDefined": "ENSP00000480261.1:p.Arg494_Leu1067delinsCysArgLysMetAlaHisIleSerLysTyrAspArgValValArgArgGluIleCysArgIleIleThrLysGlyThrGlnThrTyrSerValLeuGluGlyAspProSerGluAsnTyrSerLysTyrLeuLeuSerLeuLysGluLysGluGluAspSerSerGlyHisThrArgAlaTyrGlyValCysPheValAspThrSerLeuGlyLysPhePheIleGlyGlnPheSerAspAspArgHisCysSerArgPheArgThrLeuValAlaHisTyrProProValGlnValLeuPheGluLysGlyAsnLeuSerLysGluThrLysThrIleLeuLysSerSerLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuGlyLysThrLeuAsnLysLeuValLeuArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS402884" }, { "coordinates": [ { "allele": "T", "end": 1635, "referenceAllele": "C", "start": 1634 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000622629.4:c.-1614C>T" ], "proteinEffect": { "hgvs": "ENSP00000482078.1:n.-1614C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS405814" }, { "@id": "http://reg.genome.network/allele/PA168130", "coordinates": [ { "allele": "T", "end": 1635, "referenceAllele": "C", "start": 1634 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "NM_000179.2:c.1483C>T", "LRG_219t1:c.1483C>T" ], "proteinEffect": { "hgvs": "NP_000170.1:p.Arg495Ter", "hgvsWellDefined": "NP_000170.1:p.Arg495_Leu1360delinsCysArgLysMetAlaHisIleSerLysTyrAspArgValValArgArgGluIleCysArgIleIleThrLysGlyThrGlnThrTyrSerValLeuGluGlyAspProSerGluAsnTyrSerLysTyrLeuLeuSerLeuLysGluLysGluGluAspSerSerGlyHisThrArgAlaTyrGlyValCysPheValAspThrSerLeuGlyLysPhePheIleGlyGlnPheSerAspAspArgHisCysSerArgPheArgThrLeuValAlaHisTyrProProValGlnValLeuPheGluLysGlyAsnLeuSerLysGluThrLysThrIleLeuLysSerSerLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006241" }, { "@id": "http://reg.genome.network/allele/PA2826625958", "coordinates": [ { "allele": "T", "end": 1245, "referenceAllele": "C", "start": 1244 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "NM_001281492.1:c.1093C>T" ], "proteinEffect": { "hgvs": "NP_001268421.1:p.Arg365Ter", "hgvsWellDefined": "NP_001268421.1:p.Arg365_Leu1230delinsCysArgLysMetAlaHisIleSerLysTyrAspArgValValArgArgGluIleCysArgIleIleThrLysGlyThrGlnThrTyrSerValLeuGluGlyAspProSerGluAsnTyrSerLysTyrLeuLeuSerLeuLysGluLysGluGluAspSerSerGlyHisThrArgAlaTyrGlyValCysPheValAspThrSerLeuGlyLysPhePheIleGlyGlnPheSerAspAspArgHisCysSerArgPheArgThrLeuValAlaHisTyrProProValGlnValLeuPheGluLysGlyAsnLeuSerLysGluThrLysThrIleLeuLysSerSerLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS021654" }, { "@id": "http://reg.genome.network/allele/PA2826630304", "coordinates": [ { "allele": "T", "end": 1465, "referenceAllele": "C", "start": 1464 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "NM_001281493.1:c.577C>T" ], "proteinEffect": { "hgvs": "NP_001268422.1:p.Arg193Ter", "hgvsWellDefined": "NP_001268422.1:p.Arg193_Leu1058delinsCysArgLysMetAlaHisIleSerLysTyrAspArgValValArgArgGluIleCysArgIleIleThrLysGlyThrGlnThrTyrSerValLeuGluGlyAspProSerGluAsnTyrSerLysTyrLeuLeuSerLeuLysGluLysGluGluAspSerSerGlyHisThrArgAlaTyrGlyValCysPheValAspThrSerLeuGlyLysPhePheIleGlyGlnPheSerAspAspArgHisCysSerArgPheArgThrLeuValAlaHisTyrProProValGlnValLeuPheGluLysGlyAsnLeuSerLysGluThrLysThrIleLeuLysSerSerLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS021655" }, { "@id": "http://reg.genome.network/allele/PA2826634831", "coordinates": [ { "allele": "T", "end": 1370, "referenceAllele": "C", "start": 1369 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "NM_001281494.1:c.577C>T" ], "proteinEffect": { "hgvs": "NP_001268423.1:p.Arg193Ter", "hgvsWellDefined": "NP_001268423.1:p.Arg193_Leu1058delinsCysArgLysMetAlaHisIleSerLysTyrAspArgValValArgArgGluIleCysArgIleIleThrLysGlyThrGlnThrTyrSerValLeuGluGlyAspProSerGluAsnTyrSerLysTyrLeuLeuSerLeuLysGluLysGluGluAspSerSerGlyHisThrArgAlaTyrGlyValCysPheValAspThrSerLeuGlyLysPhePheIleGlyGlnPheSerAspAspArgHisCysSerArgPheArgThrLeuValAlaHisTyrProProValGlnValLeuPheGluLysGlyAsnLeuSerLysGluThrLysThrIleLeuLysSerSerLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS021656" }, { "coordinates": [ { "allele": "T", "end": 1281, "referenceAllele": "C", "start": 1280 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "XM_005264271.1:c.1186C>T" ], "proteinEffect": { "hgvs": "XP_005264328.1:p.Arg396Ter", "hgvsWellDefined": "XP_005264328.1:p.Arg396_Leu1261delinsCysArgLysMetAlaHisIleSerLysTyrAspArgValValArgArgGluIleCysArgIleIleThrLysGlyThrGlnThrTyrSerValLeuGluGlyAspProSerGluAsnTyrSerLysTyrLeuLeuSerLeuLysGluLysGluGluAspSerSerGlyHisThrArgAlaTyrGlyValCysPheValAspThrSerLeuGlyLysPhePheIleGlyGlnPheSerAspAspArgHisCysSerArgPheArgThrLeuValAlaHisTyrProProValGlnValLeuPheGluLysGlyAsnLeuSerLysGluThrLysThrIleLeuLysSerSerLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064144" }, { "coordinates": [ { "allele": "T", "end": 1342, "referenceAllele": "C", "start": 1341 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "XM_011532798.1:c.1300C>T" ], "proteinEffect": { "hgvs": "XP_011531100.1:p.Arg434Ter", "hgvsWellDefined": "XP_011531100.1:p.Arg434_Leu1299delinsCysArgLysMetAlaHisIleSerLysTyrAspArgValValArgArgGluIleCysArgIleIleThrLysGlyThrGlnThrTyrSerValLeuGluGlyAspProSerGluAsnTyrSerLysTyrLeuLeuSerLeuLysGluLysGluGluAspSerSerGlyHisThrArgAlaTyrGlyValCysPheValAspThrSerLeuGlyLysPhePheIleGlyGlnPheSerAspAspArgHisCysSerArgPheArgThrLeuValAlaHisTyrProProValGlnValLeuPheGluLysGlyAsnLeuSerLysGluThrLysThrIleLeuLysSerSerLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS099824" }, { "coordinates": [ { "allele": "T", "end": 1417, "referenceAllele": "C", "start": 1416 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "XM_011532799.1:c.1186C>T" ], "proteinEffect": { "hgvs": "XP_011531101.1:p.Arg396Ter", "hgvsWellDefined": "XP_011531101.1:p.Arg396_Leu1261delinsCysArgLysMetAlaHisIleSerLysTyrAspArgValValArgArgGluIleCysArgIleIleThrLysGlyThrGlnThrTyrSerValLeuGluGlyAspProSerGluAsnTyrSerLysTyrLeuLeuSerLeuLysGluLysGluGluAspSerSerGlyHisThrArgAlaTyrGlyValCysPheValAspThrSerLeuGlyLysPhePheIleGlyGlnPheSerAspAspArgHisCysSerArgPheArgThrLeuValAlaHisTyrProProValGlnValLeuPheGluLysGlyAsnLeuSerLysGluThrLysThrIleLeuLysSerSerLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS099825" }, { "coordinates": [ { "allele": "T", "end": 1298, "referenceAllele": "C", "start": 1297 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "XM_011532800.1:c.1186C>T" ], "proteinEffect": { "hgvs": "XP_011531102.1:p.Arg396Ter", "hgvsWellDefined": "XP_011531102.1:p.Arg396_Leu1261delinsCysArgLysMetAlaHisIleSerLysTyrAspArgValValArgArgGluIleCysArgIleIleThrLysGlyThrGlnThrTyrSerValLeuGluGlyAspProSerGluAsnTyrSerLysTyrLeuLeuSerLeuLysGluLysGluGluAspSerSerGlyHisThrArgAlaTyrGlyValCysPheValAspThrSerLeuGlyLysPhePheIleGlyGlnPheSerAspAspArgHisCysSerArgPheArgThrLeuValAlaHisTyrProProValGlnValLeuPheGluLysGlyAsnLeuSerLysGluThrLysThrIleLeuLysSerSerLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS099826" }, { "coordinates": [ { "allele": "T", "end": 1572, "referenceAllele": "C", "start": 1571 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "XM_024452819.1:c.1483C>T" ], "proteinEffect": { "hgvs": "XP_024308587.1:p.Arg495Ter", "hgvsWellDefined": "XP_024308587.1:p.Arg495_Leu1391delinsCysArgLysMetAlaHisIleSerLysTyrAspArgValValArgArgGluIleCysArgIleIleThrLysGlyThrGlnThrTyrSerValLeuGluGlyAspProSerGluAsnTyrSerLysTyrLeuLeuSerLeuLysGluLysGluGluAspSerSerGlyHisThrArgAlaTyrGlyValCysPheValAspThrSerLeuGlyLysPhePheIleGlyGlnPheSerAspAspArgHisCysSerArgPheArgThrLeuValAlaHisTyrProProValGlnValLeuPheGluLysGlyAsnLeuSerLysGluThrLysThrIleLeuLysSerSerLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetValCysAlaAsnCysPhePheProGlnIleArgPhePheGluArgAlaLeuLeuLeuLeuAlaHisValSerLeuIlePhePhePheLeuLysAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS586209" }, { "coordinates": [ { "allele": "T", "end": 1342, "referenceAllele": "C", "start": 1341 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "XM_024452820.1:c.1300C>T" ], "proteinEffect": { "hgvs": "XP_024308588.1:p.Arg434Ter", "hgvsWellDefined": "XP_024308588.1:p.Arg434_Leu1330delinsCysArgLysMetAlaHisIleSerLysTyrAspArgValValArgArgGluIleCysArgIleIleThrLysGlyThrGlnThrTyrSerValLeuGluGlyAspProSerGluAsnTyrSerLysTyrLeuLeuSerLeuLysGluLysGluGluAspSerSerGlyHisThrArgAlaTyrGlyValCysPheValAspThrSerLeuGlyLysPhePheIleGlyGlnPheSerAspAspArgHisCysSerArgPheArgThrLeuValAlaHisTyrProProValGlnValLeuPheGluLysGlyAsnLeuSerLysGluThrLysThrIleLeuLysSerSerLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetValCysAlaAsnCysPhePheProGlnIleArgPhePheGluArgAlaLeuLeuLeuLeuAlaHisValSerLeuIlePhePhePheLeuLysAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS586210" }, { "coordinates": [ { "allele": "T", "end": 1417, "referenceAllele": "C", "start": 1416 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "XM_024452821.1:c.1186C>T" ], "proteinEffect": { "hgvs": "XP_024308589.1:p.Arg396Ter", "hgvsWellDefined": "XP_024308589.1:p.Arg396_Leu1292delinsCysArgLysMetAlaHisIleSerLysTyrAspArgValValArgArgGluIleCysArgIleIleThrLysGlyThrGlnThrTyrSerValLeuGluGlyAspProSerGluAsnTyrSerLysTyrLeuLeuSerLeuLysGluLysGluGluAspSerSerGlyHisThrArgAlaTyrGlyValCysPheValAspThrSerLeuGlyLysPhePheIleGlyGlnPheSerAspAspArgHisCysSerArgPheArgThrLeuValAlaHisTyrProProValGlnValLeuPheGluLysGlyAsnLeuSerLysGluThrLysThrIleLeuLysSerSerLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetValCysAlaAsnCysPhePheProGlnIleArgPhePheGluArgAlaLeuLeuLeuLeuAlaHisValSerLeuIlePhePhePheLeuLysAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS586211" }, { "coordinates": [ { "allele": "T", "end": 1369, "referenceAllele": "C", "start": 1368 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "XM_024452822.1:c.577C>T" ], "proteinEffect": { "hgvs": "XP_024308590.1:p.Arg193Ter", "hgvsWellDefined": "XP_024308590.1:p.Arg193_Leu1089delinsCysArgLysMetAlaHisIleSerLysTyrAspArgValValArgArgGluIleCysArgIleIleThrLysGlyThrGlnThrTyrSerValLeuGluGlyAspProSerGluAsnTyrSerLysTyrLeuLeuSerLeuLysGluLysGluGluAspSerSerGlyHisThrArgAlaTyrGlyValCysPheValAspThrSerLeuGlyLysPhePheIleGlyGlnPheSerAspAspArgHisCysSerArgPheArgThrLeuValAlaHisTyrProProValGlnValLeuPheGluLysGlyAsnLeuSerLysGluThrLysThrIleLeuLysSerSerLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetValCysAlaAsnCysPhePheProGlnIleArgPhePheGluArgAlaLeuLeuLeuLeuAlaHisValSerLeuIlePhePhePheLeuLysAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS586212" }, { "@id": "http://reg.genome.network/allele/PA168130", "coordinates": [ { "allele": "T", "end": 1572, "referenceAllele": "C", "start": 1571 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "NM_000179.3:c.1483C>T" ], "proteinEffect": { "hgvs": "NP_000170.1:p.Arg495Ter", "hgvsWellDefined": "NP_000170.1:p.Arg495_Leu1360delinsCysArgLysMetAlaHisIleSerLysTyrAspArgValValArgArgGluIleCysArgIleIleThrLysGlyThrGlnThrTyrSerValLeuGluGlyAspProSerGluAsnTyrSerLysTyrLeuLeuSerLeuLysGluLysGluGluAspSerSerGlyHisThrArgAlaTyrGlyValCysPheValAspThrSerLeuGlyLysPhePheIleGlyGlnPheSerAspAspArgHisCysSerArgPheArgThrLeuValAlaHisTyrProProValGlnValLeuPheGluLysGlyAsnLeuSerLysGluThrLysThrIleLeuLysSerSerLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674738", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000234420.11:c.1483C>T" }, "RefSeq": { "hgvs": "NM_000179.3:c.1483C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000234420.5:p.Arg495Ter" }, "RefSeq": { "hgvs": "NP_000170.1:p.Arg495Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826625958", "coordinates": [ { "allele": "T", "end": 1182, "referenceAllele": "C", "start": 1181 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "NM_001281492.2:c.1093C>T" ], "proteinEffect": { "hgvs": "NP_001268421.1:p.Arg365Ter", "hgvsWellDefined": "NP_001268421.1:p.Arg365_Leu1230delinsCysArgLysMetAlaHisIleSerLysTyrAspArgValValArgArgGluIleCysArgIleIleThrLysGlyThrGlnThrTyrSerValLeuGluGlyAspProSerGluAsnTyrSerLysTyrLeuLeuSerLeuLysGluLysGluGluAspSerSerGlyHisThrArgAlaTyrGlyValCysPheValAspThrSerLeuGlyLysPhePheIleGlyGlnPheSerAspAspArgHisCysSerArgPheArgThrLeuValAlaHisTyrProProValGlnValLeuPheGluLysGlyAsnLeuSerLysGluThrLysThrIleLeuLysSerSerLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715702" }, { "@id": "http://reg.genome.network/allele/PA2826630304", "coordinates": [ { "allele": "T", "end": 1402, "referenceAllele": "C", "start": 1401 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "NM_001281493.2:c.577C>T" ], "proteinEffect": { "hgvs": "NP_001268422.1:p.Arg193Ter", "hgvsWellDefined": "NP_001268422.1:p.Arg193_Leu1058delinsCysArgLysMetAlaHisIleSerLysTyrAspArgValValArgArgGluIleCysArgIleIleThrLysGlyThrGlnThrTyrSerValLeuGluGlyAspProSerGluAsnTyrSerLysTyrLeuLeuSerLeuLysGluLysGluGluAspSerSerGlyHisThrArgAlaTyrGlyValCysPheValAspThrSerLeuGlyLysPhePheIleGlyGlnPheSerAspAspArgHisCysSerArgPheArgThrLeuValAlaHisTyrProProValGlnValLeuPheGluLysGlyAsnLeuSerLysGluThrLysThrIleLeuLysSerSerLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715703" }, { "@id": "http://reg.genome.network/allele/PA2826634831", "coordinates": [ { "allele": "T", "end": 1370, "referenceAllele": "C", "start": 1369 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "NM_001281494.2:c.577C>T" ], "proteinEffect": { "hgvs": "NP_001268423.1:p.Arg193Ter", "hgvsWellDefined": "NP_001268423.1:p.Arg193_Leu1058delinsCysArgLysMetAlaHisIleSerLysTyrAspArgValValArgArgGluIleCysArgIleIleThrLysGlyThrGlnThrTyrSerValLeuGluGlyAspProSerGluAsnTyrSerLysTyrLeuLeuSerLeuLysGluLysGluGluAspSerSerGlyHisThrArgAlaTyrGlyValCysPheValAspThrSerLeuGlyLysPhePheIleGlyGlnPheSerAspAspArgHisCysSerArgPheArgThrLeuValAlaHisTyrProProValGlnValLeuPheGluLysGlyAsnLeuSerLysGluThrLysThrIleLeuLysSerSerLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715704" } ], "type": "nucleotide" }