{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA008614", "communityStandardTitle": [ "NM_000179.3(MSH6):c.1444C>T (p.Arg482Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5004586", "active": true, "id": "COSM5004586" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=94668[alleleid]", "alleleId": 94668, "preferredName": "NM_000179.3(MSH6):c.1444C>T (p.Arg482Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/89194", "RCV": [ "RCV000074656", "RCV000215386", "RCV000410127", "RCV000491001", "RCV000524108", "RCV001355905", "RCV003128135" ], "variationId": 89194 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.48026566C>T?assembly=hg19", "id": "chr2:g.48026566C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.47799427C>T?assembly=hg38", "id": "chr2:g.47799427C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/63750909", "rs": 63750909 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-48026566-C-T?dataset=gnomad_r2_1", "id": "2-48026566-C-T", "variant": "2:48026566 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-47799427-C-T?dataset=gnomad_r3", "id": "2-47799427-C-T", "variant": "2:47799427 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-47799427-C-T?dataset=gnomad_r4", "id": "2-47799427-C-T", "variant": "2:47799427 C / T" } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 47799427, "referenceAllele": "C", "start": 47799426 } ], "hgvs": [ "NC_000002.12:g.47799427C>T", "CM000664.2:g.47799427C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 48026566, "referenceAllele": "C", "start": 48026565 } ], "hgvs": [ "NC_000002.11:g.48026566C>T", "CM000664.1:g.48026566C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 47880070, "referenceAllele": "C", "start": 47880069 } ], "hgvs": [ "NC_000002.10:g.47880070C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "T", "end": 21281, "referenceAllele": "C", "start": 21280 } ], "hgvs": [ "NG_007111.1:g.21281C>T", "LRG_219:g.21281C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000487" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1242, "referenceAllele": "C", "start": 1241 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000411819.2:c.1147C>T" ], "proteinEffect": { "hgvs": "ENSP00000406248.2:p.Arg383Ter", "hgvsWellDefined": "ENSP00000406248.2:p.Arg383_Leu1261delinsValGluGlnThrGluThrProGluMetMetGluAlaArgCysArgLysMetAlaHisIleSerLysTyrAspArgValValArgArgGluIleCysArgIleIleThrLysGlyThrGlnThrTyrSerValLeuGluGlyAspProSerGluAsnTyrSerLysTyrLeuLeuSerLeuLysGluLysGluGluAspSerSerGlyHisThrArgAlaTyrGlyValCysPheValAspThrSerLeuGlyLysPhePheIleGlyGlnPheSerAspAspArgHisCysSerArgPheArgThrLeuValAlaHisTyrProProValGlnValLeuPheGluLysGlyAsnLeuSerLysGluThrLysThrIleLeuLysSerSerLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914023" }, { "coordinates": [ { "allele": "T", "end": 1374, "referenceAllele": "C", "start": 1373 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000420813.6:c.1147C>T" ], "proteinEffect": { "hgvs": "ENSP00000390382.2:p.Arg383Ter", "hgvsWellDefined": "ENSP00000390382.2:p.Arg383_Leu1261delinsValGluGlnThrGluThrProGluMetMetGluAlaArgCysArgLysMetAlaHisIleSerLysTyrAspArgValValArgArgGluIleCysArgIleIleThrLysGlyThrGlnThrTyrSerValLeuGluGlyAspProSerGluAsnTyrSerLysTyrLeuLeuSerLeuLysGluLysGluGluAspSerSerGlyHisThrArgAlaTyrGlyValCysPheValAspThrSerLeuGlyLysPhePheIleGlyGlnPheSerAspAspArgHisCysSerArgPheArgThrLeuValAlaHisTyrProProValGlnValLeuPheGluLysGlyAsnLeuSerLysGluThrLysThrIleLeuLysSerSerLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914038" }, { "coordinates": [ { "allele": "T", "end": 1378, "referenceAllele": "C", "start": 1377 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000455383.6:c.1147C>T" ], "proteinEffect": { "hgvs": "ENSP00000397484.2:p.Arg383Ter", "hgvsWellDefined": "ENSP00000397484.2:p.Arg383_Leu1261delinsValGluGlnThrGluThrProGluMetMetGluAlaArgCysArgLysMetAlaHisIleSerLysTyrAspArgValValArgArgGluIleCysArgIleIleThrLysGlyThrGlnThrTyrSerValLeuGluGlyAspProSerGluAsnTyrSerLysTyrLeuLeuSerLeuLysGluLysGluGluAspSerSerGlyHisThrArgAlaTyrGlyValCysPheValAspThrSerLeuGlyLysPhePheIleGlyGlnPheSerAspAspArgHisCysSerArgPheArgThrLeuValAlaHisTyrProProValGlnValLeuPheGluLysGlyAsnLeuSerLysGluThrLysThrIleLeuLysSerSerLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914094" }, { "coordinates": [ { "allele": "T", "end": 1528, "referenceAllele": "C", "start": 1527 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000700004.2:c.1444C>T" ], "proteinEffect": { "hgvs": "ENSP00000514752.2:p.Arg482Ter", "hgvsWellDefined": "ENSP00000514752.2:p.Arg482_Leu1232delinsValGluGlnThrGluThrProGluMetMetGluAlaArgCysArgLysMetAlaHisIleSerLysTyrAspArgValValArgArgGluIleCysArgIleIleThrLysGlyThrGlnThrTyrSerValLeuGluGlyAspProSerGluAsnTyrSerLysTyrLeuLeuSerLeuLysGluLysGluGluAspSerSerGlyHisThrArgAlaTyrGlyValCysPheValAspThrSerLeuGlyLysPhePheIleGlyGlnPheSerAspAspArgHisCysSerArgPheArgThrLeuValAlaHisTyrProProValGlnValLeuPheGluLysGlyAsnLeuSerLysGluThrLysThrIleLeuLysSerSerLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914477" }, { "coordinates": [ { "allele": "T", "end": 1528, "referenceAllele": "C", "start": 1527 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000699999.1:n.1528C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS910870" }, { "coordinates": [ { "allele": "T", "end": 1527, "referenceAllele": "C", "start": 1526 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000700000.1:c.1444C>T" ], "proteinEffect": { "hgvs": "ENSP00000514749.1:p.Arg482Ter", "hgvsWellDefined": "ENSP00000514749.1:p.Arg482_Leu838delinsValGluGlnThrGluThrProGluMetMetGluAlaArgCysArgLysMetAlaHisIleSerLysTyrAspArgValValArgArgGluIleCysArgIleIleThrLysGlyThrGlnThrTyrSerValLeuGluGlyAspProSerGluAsnTyrAsnValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910871" }, { "coordinates": [ { "allele": "T", "end": 1522, "referenceAllele": "C", "start": 1521 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000700002.1:c.1450C>T" ], "proteinEffect": { "hgvs": "ENSP00000514750.1:p.Arg484Ter", "hgvsWellDefined": "ENSP00000514750.1:p.Arg484_Leu1362delinsValGluGlnThrGluThrProGluMetMetGluAlaArgCysArgLysMetAlaHisIleSerLysTyrAspArgValValArgArgGluIleCysArgIleIleThrLysGlyThrGlnThrTyrSerValLeuGluGlyAspProSerGluAsnTyrSerLysTyrLeuLeuSerLeuLysGluLysGluGluAspSerSerGlyHisThrArgAlaTyrGlyValCysPheValAspThrSerLeuGlyLysPhePheIleGlyGlnPheSerAspAspArgHisCysSerArgPheArgThrLeuValAlaHisTyrProProValGlnValLeuPheGluLysGlyAsnLeuSerLysGluThrLysThrIleLeuLysSerSerLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910873" }, { "coordinates": [ { "allele": "T", "end": 627, "endIntronDirection": "+", "endIntronOffset": 3364, "referenceAllele": "C", "start": 627, "startIntronDirection": "+", "startIntronOffset": 3363 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000700003.1:c.627+3364C>T" ], "proteinEffect": { "hgvs": "ENSP00000514751.1:n.627+3364C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS910874" }, { "coordinates": [ { "allele": "T", "end": 601, "referenceAllele": "C", "start": 600 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000700004.1:c.601C>T" ], "proteinEffect": { "hgvs": "ENSP00000514752.1:p.Arg201Ter", "hgvsWellDefined": "ENSP00000514752.1:p.Arg201_Leu951delinsValGluGlnThrGluThrProGluMetMetGluAlaArgCysArgLysMetAlaHisIleSerLysTyrAspArgValValArgArgGluIleCysArgIleIleThrLysGlyThrGlnThrTyrSerValLeuGluGlyAspProSerGluAsnTyrSerLysTyrLeuLeuSerLeuLysGluLysGluGluAspSerSerGlyHisThrArgAlaTyrGlyValCysPheValAspThrSerLeuGlyLysPhePheIleGlyGlnPheSerAspAspArgHisCysSerArgPheArgThrLeuValAlaHisTyrProProValGlnValLeuPheGluLysGlyAsnLeuSerLysGluThrLysThrIleLeuLysSerSerLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910875" }, { "coordinates": [ { "allele": "T", "end": 1533, "referenceAllele": "C", "start": 1532 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000234420.11:c.1444C>T" ], "proteinEffect": { "hgvs": "ENSP00000234420.5:p.Arg482Ter", "hgvsWellDefined": "ENSP00000234420.5:p.Arg482_Leu1360delinsValGluGlnThrGluThrProGluMetMetGluAlaArgCysArgLysMetAlaHisIleSerLysTyrAspArgValValArgArgGluIleCysArgIleIleThrLysGlyThrGlnThrTyrSerValLeuGluGlyAspProSerGluAsnTyrSerLysTyrLeuLeuSerLeuLysGluLysGluGluAspSerSerGlyHisThrArgAlaTyrGlyValCysPheValAspThrSerLeuGlyLysPhePheIleGlyGlnPheSerAspAspArgHisCysSerArgPheArgThrLeuValAlaHisTyrProProValGlnValLeuPheGluLysGlyAsnLeuSerLysGluThrLysThrIleLeuLysSerSerLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS740955", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000234420.11:c.1444C>T" }, "RefSeq": { "hgvs": "NM_000179.3:c.1444C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000234420.5:p.Arg482Ter" }, "RefSeq": { "hgvs": "NP_000170.1:p.Arg482Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1105, "referenceAllele": "C", "start": 1104 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000540021.6:c.1054C>T" ], "proteinEffect": { "hgvs": "ENSP00000446475.1:p.Arg352Ter", "hgvsWellDefined": "ENSP00000446475.1:p.Arg352_Leu1230delinsValGluGlnThrGluThrProGluMetMetGluAlaArgCysArgLysMetAlaHisIleSerLysTyrAspArgValValArgArgGluIleCysArgIleIleThrLysGlyThrGlnThrTyrSerValLeuGluGlyAspProSerGluAsnTyrSerLysTyrLeuLeuSerLeuLysGluLysGluGluAspSerSerGlyHisThrArgAlaTyrGlyValCysPheValAspThrSerLeuGlyLysPhePheIleGlyGlnPheSerAspAspArgHisCysSerArgPheArgThrLeuValAlaHisTyrProProValGlnValLeuPheGluLysGlyAsnLeuSerLysGluThrLysThrIleLeuLysSerSerLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759617" }, { "coordinates": [ { "allele": "T", "end": 1827, "referenceAllele": "C", "start": 1826 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000652107.1:c.1147C>T" ], "proteinEffect": { "hgvs": "ENSP00000498629.1:p.Arg383Ter", "hgvsWellDefined": "ENSP00000498629.1:p.Arg383_Leu1261delinsValGluGlnThrGluThrProGluMetMetGluAlaArgCysArgLysMetAlaHisIleSerLysTyrAspArgValValArgArgGluIleCysArgIleIleThrLysGlyThrGlnThrTyrSerValLeuGluGlyAspProSerGluAsnTyrSerLysTyrLeuLeuSerLeuLysGluLysGluGluAspSerSerGlyHisThrArgAlaTyrGlyValCysPheValAspThrSerLeuGlyLysPhePheIleGlyGlnPheSerAspAspArgHisCysSerArgPheArgThrLeuValAlaHisTyrProProValGlnValLeuPheGluLysGlyAsnLeuSerLysGluThrLysThrIleLeuLysSerSerLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS772029" }, { "coordinates": [ { "allele": "T", "end": 1265, "referenceAllele": "C", "start": 1264 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000673637.1:c.1147C>T" ], "proteinEffect": { "hgvs": "ENSP00000501310.1:p.Arg383Ter", "hgvsWellDefined": "ENSP00000501310.1:p.Arg383_Leu1261delinsValGluGlnThrGluThrProGluMetMetGluAlaArgCysArgLysMetAlaHisIleSerLysTyrAspArgValValArgArgGluIleCysArgIleIleThrLysGlyThrGlnThrTyrSerValLeuGluGlyAspProSerGluAsnTyrSerLysTyrLeuLeuSerLeuLysGluLysGluGluAspSerSerGlyHisThrArgAlaTyrGlyValCysPheValAspThrSerLeuGlyLysPhePheIleGlyGlnPheSerAspAspArgHisCysSerArgPheArgThrLeuValAlaHisTyrProProValGlnValLeuPheGluLysGlyAsnLeuSerLysGluThrLysThrIleLeuLysSerSerLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773747" }, { "coordinates": [ { "allele": "T", "end": 1596, "referenceAllele": "C", "start": 1595 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000234420.9:c.1444C>T" ], "proteinEffect": { "hgvs": "ENSP00000234420.4:p.Arg482Ter", "hgvsWellDefined": "ENSP00000234420.4:p.Arg482_Leu1360delinsValGluGlnThrGluThrProGluMetMetGluAlaArgCysArgLysMetAlaHisIleSerLysTyrAspArgValValArgArgGluIleCysArgIleIleThrLysGlyThrGlnThrTyrSerValLeuGluGlyAspProSerGluAsnTyrSerLysTyrLeuLeuSerLeuLysGluLysGluGluAspSerSerGlyHisThrArgAlaTyrGlyValCysPheValAspThrSerLeuGlyLysPhePheIleGlyGlnPheSerAspAspArgHisCysSerArgPheArgThrLeuValAlaHisTyrProProValGlnValLeuPheGluLysGlyAsnLeuSerLysGluThrLysThrIleLeuLysSerSerLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247309" }, { "coordinates": [ { "allele": "A", "end": 180, "endIntronDirection": "+", "endIntronOffset": 8768, "referenceAllele": "G", "start": 180, "startIntronDirection": "+", "startIntronOffset": 8767 } ], "gene": "http://reg.genome.network/gene/GN013590", "geneNCBI_id": 80204, "geneSymbol": "FBXO11", "hgvs": [ "ENST00000405808.5:c.169+8768G>A" ], "proteinEffect": { "hgvs": "ENSP00000385127.1:n.169+8768G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS247134" }, { "coordinates": [ { "allele": "A", "end": 447, "endIntronDirection": "+", "endIntronOffset": 8567, "referenceAllele": "G", "start": 447, "startIntronDirection": "+", "startIntronOffset": 8566 } ], "gene": "http://reg.genome.network/gene/GN013590", "geneNCBI_id": 80204, "geneSymbol": "FBXO11", "hgvs": [ "ENST00000434234.5:c.*124+8567G>A" ], "proteinEffect": { "hgvs": "ENSP00000402692.1:n.*124+8567G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS292930" }, { "coordinates": [ { "allele": "T", "end": 1426, "referenceAllele": "C", "start": 1425 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000445503.5:c.*791C>T" ], "proteinEffect": { "hgvs": "ENSP00000405294.1:n.*791C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS298311" }, { "coordinates": [ { "allele": "T", "end": 1331, "referenceAllele": "C", "start": 1330 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000538136.1:c.538C>T" ], "proteinEffect": { "hgvs": "ENSP00000438580.1:p.Arg180Ter", "hgvsWellDefined": "ENSP00000438580.1:p.Arg180_Leu1058delinsValGluGlnThrGluThrProGluMetMetGluAlaArgCysArgLysMetAlaHisIleSerLysTyrAspArgValValArgArgGluIleCysArgIleIleThrLysGlyThrGlnThrTyrSerValLeuGluGlyAspProSerGluAsnTyrSerLysTyrLeuLeuSerLeuLysGluLysGluGluAspSerSerGlyHisThrArgAlaTyrGlyValCysPheValAspThrSerLeuGlyLysPhePheIleGlyGlnPheSerAspAspArgHisCysSerArgPheArgThrLeuValAlaHisTyrProProValGlnValLeuPheGluLysGlyAsnLeuSerLysGluThrLysThrIleLeuLysSerSerLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247195" }, { "coordinates": [ { "allele": "T", "end": 1206, "referenceAllele": "C", "start": 1205 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000540021.5:c.1054C>T" ], "proteinEffect": { "hgvs": "ENSP00000446475.1:p.Arg352Ter", "hgvsWellDefined": "ENSP00000446475.1:p.Arg352_Leu1230delinsValGluGlnThrGluThrProGluMetMetGluAlaArgCysArgLysMetAlaHisIleSerLysTyrAspArgValValArgArgGluIleCysArgIleIleThrLysGlyThrGlnThrTyrSerValLeuGluGlyAspProSerGluAsnTyrSerLysTyrLeuLeuSerLeuLysGluLysGluGluAspSerSerGlyHisThrArgAlaTyrGlyValCysPheValAspThrSerLeuGlyLysPhePheIleGlyGlnPheSerAspAspArgHisCysSerArgPheArgThrLeuValAlaHisTyrProProValGlnValLeuPheGluLysGlyAsnLeuSerLysGluThrLysThrIleLeuLysSerSerLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247186" }, { "coordinates": [ { "allele": "T", "end": 1426, "referenceAllele": "C", "start": 1425 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000614496.4:c.538C>T" ], "proteinEffect": { "hgvs": "ENSP00000477844.1:p.Arg180Ter", "hgvsWellDefined": "ENSP00000477844.1:p.Arg180_Leu1058delinsValGluGlnThrGluThrProGluMetMetGluAlaArgCysArgLysMetAlaHisIleSerLysTyrAspArgValValArgArgGluIleCysArgIleIleThrLysGlyThrGlnThrTyrSerValLeuGluGlyAspProSerGluAsnTyrSerLysTyrLeuLeuSerLeuLysGluLysGluGluAspSerSerGlyHisThrArgAlaTyrGlyValCysPheValAspThrSerLeuGlyLysPhePheIleGlyGlnPheSerAspAspArgHisCysSerArgPheArgThrLeuValAlaHisTyrProProValGlnValLeuPheGluLysGlyAsnLeuSerLysGluThrLysThrIleLeuLysSerSerLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS402225" }, { "coordinates": [ { "allele": "T", "end": 1524, "referenceAllele": "C", "start": 1523 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000616033.4:c.1441C>T" ], "proteinEffect": { "hgvs": "ENSP00000480261.1:p.Arg481Ter", "hgvsWellDefined": "ENSP00000480261.1:p.Arg481_Leu1067delinsValGluGlnThrGluThrProGluMetMetGluAlaArgCysArgLysMetAlaHisIleSerLysTyrAspArgValValArgArgGluIleCysArgIleIleThrLysGlyThrGlnThrTyrSerValLeuGluGlyAspProSerGluAsnTyrSerLysTyrLeuLeuSerLeuLysGluLysGluGluAspSerSerGlyHisThrArgAlaTyrGlyValCysPheValAspThrSerLeuGlyLysPhePheIleGlyGlnPheSerAspAspArgHisCysSerArgPheArgThrLeuValAlaHisTyrProProValGlnValLeuPheGluLysGlyAsnLeuSerLysGluThrLysThrIleLeuLysSerSerLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuGlyLysThrLeuAsnLysLeuValLeuArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS402884" }, { "coordinates": [ { "allele": "T", "end": 1596, "referenceAllele": "C", "start": 1595 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000622629.4:c.-1653C>T" ], "proteinEffect": { "hgvs": "ENSP00000482078.1:n.-1653C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS405814" }, { "@id": "http://reg.genome.network/allele/PA345338", "coordinates": [ { "allele": "T", "end": 1596, "referenceAllele": "C", "start": 1595 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "NM_000179.2:c.1444C>T", "LRG_219t1:c.1444C>T" ], "proteinEffect": { "hgvs": "NP_000170.1:p.Arg482Ter", "hgvsWellDefined": "NP_000170.1:p.Arg482_Leu1360delinsValGluGlnThrGluThrProGluMetMetGluAlaArgCysArgLysMetAlaHisIleSerLysTyrAspArgValValArgArgGluIleCysArgIleIleThrLysGlyThrGlnThrTyrSerValLeuGluGlyAspProSerGluAsnTyrSerLysTyrLeuLeuSerLeuLysGluLysGluGluAspSerSerGlyHisThrArgAlaTyrGlyValCysPheValAspThrSerLeuGlyLysPhePheIleGlyGlnPheSerAspAspArgHisCysSerArgPheArgThrLeuValAlaHisTyrProProValGlnValLeuPheGluLysGlyAsnLeuSerLysGluThrLysThrIleLeuLysSerSerLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006241" }, { "@id": "http://reg.genome.network/allele/PA2826625902", "coordinates": [ { "allele": "T", "end": 1206, "referenceAllele": "C", "start": 1205 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "NM_001281492.1:c.1054C>T" ], "proteinEffect": { "hgvs": "NP_001268421.1:p.Arg352Ter", "hgvsWellDefined": "NP_001268421.1:p.Arg352_Leu1230delinsValGluGlnThrGluThrProGluMetMetGluAlaArgCysArgLysMetAlaHisIleSerLysTyrAspArgValValArgArgGluIleCysArgIleIleThrLysGlyThrGlnThrTyrSerValLeuGluGlyAspProSerGluAsnTyrSerLysTyrLeuLeuSerLeuLysGluLysGluGluAspSerSerGlyHisThrArgAlaTyrGlyValCysPheValAspThrSerLeuGlyLysPhePheIleGlyGlnPheSerAspAspArgHisCysSerArgPheArgThrLeuValAlaHisTyrProProValGlnValLeuPheGluLysGlyAsnLeuSerLysGluThrLysThrIleLeuLysSerSerLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS021654" }, { "@id": "http://reg.genome.network/allele/PA2826630251", "coordinates": [ { "allele": "T", "end": 1426, "referenceAllele": "C", "start": 1425 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "NM_001281493.1:c.538C>T" ], "proteinEffect": { "hgvs": "NP_001268422.1:p.Arg180Ter", "hgvsWellDefined": "NP_001268422.1:p.Arg180_Leu1058delinsValGluGlnThrGluThrProGluMetMetGluAlaArgCysArgLysMetAlaHisIleSerLysTyrAspArgValValArgArgGluIleCysArgIleIleThrLysGlyThrGlnThrTyrSerValLeuGluGlyAspProSerGluAsnTyrSerLysTyrLeuLeuSerLeuLysGluLysGluGluAspSerSerGlyHisThrArgAlaTyrGlyValCysPheValAspThrSerLeuGlyLysPhePheIleGlyGlnPheSerAspAspArgHisCysSerArgPheArgThrLeuValAlaHisTyrProProValGlnValLeuPheGluLysGlyAsnLeuSerLysGluThrLysThrIleLeuLysSerSerLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS021655" }, { "@id": "http://reg.genome.network/allele/PA2826634775", "coordinates": [ { "allele": "T", "end": 1331, "referenceAllele": "C", "start": 1330 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "NM_001281494.1:c.538C>T" ], "proteinEffect": { "hgvs": "NP_001268423.1:p.Arg180Ter", "hgvsWellDefined": "NP_001268423.1:p.Arg180_Leu1058delinsValGluGlnThrGluThrProGluMetMetGluAlaArgCysArgLysMetAlaHisIleSerLysTyrAspArgValValArgArgGluIleCysArgIleIleThrLysGlyThrGlnThrTyrSerValLeuGluGlyAspProSerGluAsnTyrSerLysTyrLeuLeuSerLeuLysGluLysGluGluAspSerSerGlyHisThrArgAlaTyrGlyValCysPheValAspThrSerLeuGlyLysPhePheIleGlyGlnPheSerAspAspArgHisCysSerArgPheArgThrLeuValAlaHisTyrProProValGlnValLeuPheGluLysGlyAsnLeuSerLysGluThrLysThrIleLeuLysSerSerLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS021656" }, { "coordinates": [ { "allele": "T", "end": 1242, "referenceAllele": "C", "start": 1241 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "XM_005264271.1:c.1147C>T" ], "proteinEffect": { "hgvs": "XP_005264328.1:p.Arg383Ter", "hgvsWellDefined": "XP_005264328.1:p.Arg383_Leu1261delinsValGluGlnThrGluThrProGluMetMetGluAlaArgCysArgLysMetAlaHisIleSerLysTyrAspArgValValArgArgGluIleCysArgIleIleThrLysGlyThrGlnThrTyrSerValLeuGluGlyAspProSerGluAsnTyrSerLysTyrLeuLeuSerLeuLysGluLysGluGluAspSerSerGlyHisThrArgAlaTyrGlyValCysPheValAspThrSerLeuGlyLysPhePheIleGlyGlnPheSerAspAspArgHisCysSerArgPheArgThrLeuValAlaHisTyrProProValGlnValLeuPheGluLysGlyAsnLeuSerLysGluThrLysThrIleLeuLysSerSerLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064144" }, { "coordinates": [ { "allele": "T", "end": 1303, "referenceAllele": "C", "start": 1302 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "XM_011532798.1:c.1261C>T" ], "proteinEffect": { "hgvs": "XP_011531100.1:p.Arg421Ter", "hgvsWellDefined": "XP_011531100.1:p.Arg421_Leu1299delinsValGluGlnThrGluThrProGluMetMetGluAlaArgCysArgLysMetAlaHisIleSerLysTyrAspArgValValArgArgGluIleCysArgIleIleThrLysGlyThrGlnThrTyrSerValLeuGluGlyAspProSerGluAsnTyrSerLysTyrLeuLeuSerLeuLysGluLysGluGluAspSerSerGlyHisThrArgAlaTyrGlyValCysPheValAspThrSerLeuGlyLysPhePheIleGlyGlnPheSerAspAspArgHisCysSerArgPheArgThrLeuValAlaHisTyrProProValGlnValLeuPheGluLysGlyAsnLeuSerLysGluThrLysThrIleLeuLysSerSerLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS099824" }, { "coordinates": [ { "allele": "T", "end": 1378, "referenceAllele": "C", "start": 1377 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "XM_011532799.1:c.1147C>T" ], "proteinEffect": { "hgvs": "XP_011531101.1:p.Arg383Ter", "hgvsWellDefined": "XP_011531101.1:p.Arg383_Leu1261delinsValGluGlnThrGluThrProGluMetMetGluAlaArgCysArgLysMetAlaHisIleSerLysTyrAspArgValValArgArgGluIleCysArgIleIleThrLysGlyThrGlnThrTyrSerValLeuGluGlyAspProSerGluAsnTyrSerLysTyrLeuLeuSerLeuLysGluLysGluGluAspSerSerGlyHisThrArgAlaTyrGlyValCysPheValAspThrSerLeuGlyLysPhePheIleGlyGlnPheSerAspAspArgHisCysSerArgPheArgThrLeuValAlaHisTyrProProValGlnValLeuPheGluLysGlyAsnLeuSerLysGluThrLysThrIleLeuLysSerSerLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS099825" }, { "coordinates": [ { "allele": "T", "end": 1259, "referenceAllele": "C", "start": 1258 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "XM_011532800.1:c.1147C>T" ], "proteinEffect": { "hgvs": "XP_011531102.1:p.Arg383Ter", "hgvsWellDefined": "XP_011531102.1:p.Arg383_Leu1261delinsValGluGlnThrGluThrProGluMetMetGluAlaArgCysArgLysMetAlaHisIleSerLysTyrAspArgValValArgArgGluIleCysArgIleIleThrLysGlyThrGlnThrTyrSerValLeuGluGlyAspProSerGluAsnTyrSerLysTyrLeuLeuSerLeuLysGluLysGluGluAspSerSerGlyHisThrArgAlaTyrGlyValCysPheValAspThrSerLeuGlyLysPhePheIleGlyGlnPheSerAspAspArgHisCysSerArgPheArgThrLeuValAlaHisTyrProProValGlnValLeuPheGluLysGlyAsnLeuSerLysGluThrLysThrIleLeuLysSerSerLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS099826" }, { "coordinates": [ { "allele": "T", "end": 1533, "referenceAllele": "C", "start": 1532 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "XM_024452819.1:c.1444C>T" ], "proteinEffect": { "hgvs": "XP_024308587.1:p.Arg482Ter", "hgvsWellDefined": "XP_024308587.1:p.Arg482_Leu1391delinsValGluGlnThrGluThrProGluMetMetGluAlaArgCysArgLysMetAlaHisIleSerLysTyrAspArgValValArgArgGluIleCysArgIleIleThrLysGlyThrGlnThrTyrSerValLeuGluGlyAspProSerGluAsnTyrSerLysTyrLeuLeuSerLeuLysGluLysGluGluAspSerSerGlyHisThrArgAlaTyrGlyValCysPheValAspThrSerLeuGlyLysPhePheIleGlyGlnPheSerAspAspArgHisCysSerArgPheArgThrLeuValAlaHisTyrProProValGlnValLeuPheGluLysGlyAsnLeuSerLysGluThrLysThrIleLeuLysSerSerLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetValCysAlaAsnCysPhePheProGlnIleArgPhePheGluArgAlaLeuLeuLeuLeuAlaHisValSerLeuIlePhePhePheLeuLysAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS586209" }, { "coordinates": [ { "allele": "T", "end": 1303, "referenceAllele": "C", "start": 1302 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "XM_024452820.1:c.1261C>T" ], "proteinEffect": { "hgvs": "XP_024308588.1:p.Arg421Ter", "hgvsWellDefined": "XP_024308588.1:p.Arg421_Leu1330delinsValGluGlnThrGluThrProGluMetMetGluAlaArgCysArgLysMetAlaHisIleSerLysTyrAspArgValValArgArgGluIleCysArgIleIleThrLysGlyThrGlnThrTyrSerValLeuGluGlyAspProSerGluAsnTyrSerLysTyrLeuLeuSerLeuLysGluLysGluGluAspSerSerGlyHisThrArgAlaTyrGlyValCysPheValAspThrSerLeuGlyLysPhePheIleGlyGlnPheSerAspAspArgHisCysSerArgPheArgThrLeuValAlaHisTyrProProValGlnValLeuPheGluLysGlyAsnLeuSerLysGluThrLysThrIleLeuLysSerSerLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetValCysAlaAsnCysPhePheProGlnIleArgPhePheGluArgAlaLeuLeuLeuLeuAlaHisValSerLeuIlePhePhePheLeuLysAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS586210" }, { "coordinates": [ { "allele": "T", "end": 1378, "referenceAllele": "C", "start": 1377 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "XM_024452821.1:c.1147C>T" ], "proteinEffect": { "hgvs": "XP_024308589.1:p.Arg383Ter", "hgvsWellDefined": "XP_024308589.1:p.Arg383_Leu1292delinsValGluGlnThrGluThrProGluMetMetGluAlaArgCysArgLysMetAlaHisIleSerLysTyrAspArgValValArgArgGluIleCysArgIleIleThrLysGlyThrGlnThrTyrSerValLeuGluGlyAspProSerGluAsnTyrSerLysTyrLeuLeuSerLeuLysGluLysGluGluAspSerSerGlyHisThrArgAlaTyrGlyValCysPheValAspThrSerLeuGlyLysPhePheIleGlyGlnPheSerAspAspArgHisCysSerArgPheArgThrLeuValAlaHisTyrProProValGlnValLeuPheGluLysGlyAsnLeuSerLysGluThrLysThrIleLeuLysSerSerLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetValCysAlaAsnCysPhePheProGlnIleArgPhePheGluArgAlaLeuLeuLeuLeuAlaHisValSerLeuIlePhePhePheLeuLysAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS586211" }, { "coordinates": [ { "allele": "T", "end": 1330, "referenceAllele": "C", "start": 1329 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "XM_024452822.1:c.538C>T" ], "proteinEffect": { "hgvs": "XP_024308590.1:p.Arg180Ter", "hgvsWellDefined": "XP_024308590.1:p.Arg180_Leu1089delinsValGluGlnThrGluThrProGluMetMetGluAlaArgCysArgLysMetAlaHisIleSerLysTyrAspArgValValArgArgGluIleCysArgIleIleThrLysGlyThrGlnThrTyrSerValLeuGluGlyAspProSerGluAsnTyrSerLysTyrLeuLeuSerLeuLysGluLysGluGluAspSerSerGlyHisThrArgAlaTyrGlyValCysPheValAspThrSerLeuGlyLysPhePheIleGlyGlnPheSerAspAspArgHisCysSerArgPheArgThrLeuValAlaHisTyrProProValGlnValLeuPheGluLysGlyAsnLeuSerLysGluThrLysThrIleLeuLysSerSerLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetValCysAlaAsnCysPhePheProGlnIleArgPhePheGluArgAlaLeuLeuLeuLeuAlaHisValSerLeuIlePhePhePheLeuLysAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS586212" }, { "@id": "http://reg.genome.network/allele/PA345338", "coordinates": [ { "allele": "T", "end": 1533, "referenceAllele": "C", "start": 1532 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "NM_000179.3:c.1444C>T" ], "proteinEffect": { "hgvs": "NP_000170.1:p.Arg482Ter", "hgvsWellDefined": "NP_000170.1:p.Arg482_Leu1360delinsValGluGlnThrGluThrProGluMetMetGluAlaArgCysArgLysMetAlaHisIleSerLysTyrAspArgValValArgArgGluIleCysArgIleIleThrLysGlyThrGlnThrTyrSerValLeuGluGlyAspProSerGluAsnTyrSerLysTyrLeuLeuSerLeuLysGluLysGluGluAspSerSerGlyHisThrArgAlaTyrGlyValCysPheValAspThrSerLeuGlyLysPhePheIleGlyGlnPheSerAspAspArgHisCysSerArgPheArgThrLeuValAlaHisTyrProProValGlnValLeuPheGluLysGlyAsnLeuSerLysGluThrLysThrIleLeuLysSerSerLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674738", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000234420.11:c.1444C>T" }, "RefSeq": { "hgvs": "NM_000179.3:c.1444C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000234420.5:p.Arg482Ter" }, "RefSeq": { "hgvs": "NP_000170.1:p.Arg482Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826625902", "coordinates": [ { "allele": "T", "end": 1143, "referenceAllele": "C", "start": 1142 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "NM_001281492.2:c.1054C>T" ], "proteinEffect": { "hgvs": "NP_001268421.1:p.Arg352Ter", "hgvsWellDefined": "NP_001268421.1:p.Arg352_Leu1230delinsValGluGlnThrGluThrProGluMetMetGluAlaArgCysArgLysMetAlaHisIleSerLysTyrAspArgValValArgArgGluIleCysArgIleIleThrLysGlyThrGlnThrTyrSerValLeuGluGlyAspProSerGluAsnTyrSerLysTyrLeuLeuSerLeuLysGluLysGluGluAspSerSerGlyHisThrArgAlaTyrGlyValCysPheValAspThrSerLeuGlyLysPhePheIleGlyGlnPheSerAspAspArgHisCysSerArgPheArgThrLeuValAlaHisTyrProProValGlnValLeuPheGluLysGlyAsnLeuSerLysGluThrLysThrIleLeuLysSerSerLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715702" }, { "@id": "http://reg.genome.network/allele/PA2826630251", "coordinates": [ { "allele": "T", "end": 1363, "referenceAllele": "C", "start": 1362 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "NM_001281493.2:c.538C>T" ], "proteinEffect": { "hgvs": "NP_001268422.1:p.Arg180Ter", "hgvsWellDefined": "NP_001268422.1:p.Arg180_Leu1058delinsValGluGlnThrGluThrProGluMetMetGluAlaArgCysArgLysMetAlaHisIleSerLysTyrAspArgValValArgArgGluIleCysArgIleIleThrLysGlyThrGlnThrTyrSerValLeuGluGlyAspProSerGluAsnTyrSerLysTyrLeuLeuSerLeuLysGluLysGluGluAspSerSerGlyHisThrArgAlaTyrGlyValCysPheValAspThrSerLeuGlyLysPhePheIleGlyGlnPheSerAspAspArgHisCysSerArgPheArgThrLeuValAlaHisTyrProProValGlnValLeuPheGluLysGlyAsnLeuSerLysGluThrLysThrIleLeuLysSerSerLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715703" }, { "@id": "http://reg.genome.network/allele/PA2826634775", "coordinates": [ { "allele": "T", "end": 1331, "referenceAllele": "C", "start": 1330 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "NM_001281494.2:c.538C>T" ], "proteinEffect": { "hgvs": "NP_001268423.1:p.Arg180Ter", "hgvsWellDefined": "NP_001268423.1:p.Arg180_Leu1058delinsValGluGlnThrGluThrProGluMetMetGluAlaArgCysArgLysMetAlaHisIleSerLysTyrAspArgValValArgArgGluIleCysArgIleIleThrLysGlyThrGlnThrTyrSerValLeuGluGlyAspProSerGluAsnTyrSerLysTyrLeuLeuSerLeuLysGluLysGluGluAspSerSerGlyHisThrArgAlaTyrGlyValCysPheValAspThrSerLeuGlyLysPhePheIleGlyGlnPheSerAspAspArgHisCysSerArgPheArgThrLeuValAlaHisTyrProProValGlnValLeuPheGluLysGlyAsnLeuSerLysGluThrLysThrIleLeuLysSerSerLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715704" } ], "type": "nucleotide" }