{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA346752979", "communityStandardTitle": [ "NM_000179.3(MSH6):c.2295C>A (p.Cys765Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=630280[alleleid]", "alleleId": 630280, "preferredName": "NM_000179.3(MSH6):c.2295C>A (p.Cys765Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/650829", "RCV": [ "RCV000806058", "RCV001184647", "RCV003489898", "RCV003453682" ], "variationId": 650829 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.48027417C>A?assembly=hg19", "id": "chr2:g.48027417C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.47800278C>A?assembly=hg38", "id": "chr2:g.47800278C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/63750985", "rs": 63750985 } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 47800278, "referenceAllele": "C", "start": 47800277 } ], "hgvs": [ "NC_000002.12:g.47800278C>A", "CM000664.2:g.47800278C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 48027417, "referenceAllele": "C", "start": 48027416 } ], "hgvs": [ "NC_000002.11:g.48027417C>A", "CM000664.1:g.48027417C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 47880921, "referenceAllele": "C", "start": 47880920 } ], "hgvs": [ "NC_000002.10:g.47880921C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "A", "end": 22132, "referenceAllele": "C", "start": 22131 } ], "hgvs": [ "NG_007111.1:g.22132C>A", "LRG_219:g.22132C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000487" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2093, "referenceAllele": "C", "start": 2092 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000411819.2:c.1998C>A" ], "proteinEffect": { "hgvs": "ENSP00000406248.2:p.Cys666Ter", "hgvsWellDefined": "ENSP00000406248.2:p.Cys666_Leu1261delinsHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914023" }, { "coordinates": [ { "allele": "A", "end": 2225, "referenceAllele": "C", "start": 2224 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000420813.6:c.1998C>A" ], "proteinEffect": { "hgvs": "ENSP00000390382.2:p.Cys666Ter", "hgvsWellDefined": "ENSP00000390382.2:p.Cys666_Leu1261delinsHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914038" }, { "coordinates": [ { "allele": "A", "end": 2229, "referenceAllele": "C", "start": 2228 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000455383.6:c.1998C>A" ], "proteinEffect": { "hgvs": "ENSP00000397484.2:p.Cys666Ter", "hgvsWellDefined": "ENSP00000397484.2:p.Cys666_Leu1261delinsHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914094" }, { "coordinates": [ { "allele": "A", "end": 2379, "referenceAllele": "C", "start": 2378 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000700004.2:c.2295C>A" ], "proteinEffect": { "hgvs": "ENSP00000514752.2:p.Cys765Ter", "hgvsWellDefined": "ENSP00000514752.2:p.Cys765_Leu1232delinsHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914477" }, { "coordinates": [ { "allele": "A", "end": 2379, "referenceAllele": "C", "start": 2378 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000699999.1:n.2379C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS910870" }, { "coordinates": [ { "allele": "A", "end": 1689, "endIntronDirection": "+", "endIntronOffset": 689, "referenceAllele": "C", "start": 1689, "startIntronDirection": "+", "startIntronOffset": 688 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000700000.1:c.1606+689C>A" ], "proteinEffect": { "hgvs": "ENSP00000514749.1:n.1606+689C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS910871" }, { "coordinates": [ { "allele": "A", "end": 2373, "referenceAllele": "C", "start": 2372 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000700002.1:c.2301C>A" ], "proteinEffect": { "hgvs": "ENSP00000514750.1:p.Cys767Ter", "hgvsWellDefined": "ENSP00000514750.1:p.Cys767_Leu1362delinsHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910873" }, { "coordinates": [ { "allele": "A", "end": 627, "endIntronDirection": "-", "endIntronOffset": 3141, "referenceAllele": "C", "start": 627, "startIntronDirection": "-", "startIntronOffset": 3142 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000700003.1:c.628-3142C>A" ], "proteinEffect": { "hgvs": "ENSP00000514751.1:n.628-3142C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS910874" }, { "coordinates": [ { "allele": "A", "end": 1452, "referenceAllele": "C", "start": 1451 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000700004.1:c.1452C>A" ], "proteinEffect": { "hgvs": "ENSP00000514752.1:p.Cys484Ter", "hgvsWellDefined": "ENSP00000514752.1:p.Cys484_Leu951delinsHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910875" }, { "coordinates": [ { "allele": "A", "end": 2384, "referenceAllele": "C", "start": 2383 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000234420.11:c.2295C>A" ], "proteinEffect": { "hgvs": "ENSP00000234420.5:p.Cys765Ter", "hgvsWellDefined": "ENSP00000234420.5:p.Cys765_Leu1360delinsHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS740955", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000234420.11:c.2295C>A" }, "RefSeq": { "hgvs": "NM_000179.3:c.2295C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000234420.5:p.Cys765Ter" }, "RefSeq": { "hgvs": "NP_000170.1:p.Cys765Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1956, "referenceAllele": "C", "start": 1955 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000540021.6:c.1905C>A" ], "proteinEffect": { "hgvs": "ENSP00000446475.1:p.Cys635Ter", "hgvsWellDefined": "ENSP00000446475.1:p.Cys635_Leu1230delinsHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759617" }, { "coordinates": [ { "allele": "A", "end": 2678, "referenceAllele": "C", "start": 2677 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000652107.1:c.1998C>A" ], "proteinEffect": { "hgvs": "ENSP00000498629.1:p.Cys666Ter", "hgvsWellDefined": "ENSP00000498629.1:p.Cys666_Leu1261delinsHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS772029" }, { "coordinates": [ { "allele": "A", "end": 2116, "referenceAllele": "C", "start": 2115 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000673637.1:c.1998C>A" ], "proteinEffect": { "hgvs": "ENSP00000501310.1:p.Cys666Ter", "hgvsWellDefined": "ENSP00000501310.1:p.Cys666_Leu1261delinsHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773747" }, { "coordinates": [ { "allele": "A", "end": 2447, "referenceAllele": "C", "start": 2446 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000234420.9:c.2295C>A" ], "proteinEffect": { "hgvs": "ENSP00000234420.4:p.Cys765Ter", "hgvsWellDefined": "ENSP00000234420.4:p.Cys765_Leu1360delinsHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247309" }, { "coordinates": [ { "allele": "T", "end": 180, "endIntronDirection": "+", "endIntronOffset": 7917, "referenceAllele": "G", "start": 180, "startIntronDirection": "+", "startIntronOffset": 7916 } ], "gene": "http://reg.genome.network/gene/GN013590", "geneNCBI_id": 80204, "geneSymbol": "FBXO11", "hgvs": [ "ENST00000405808.5:c.169+7917G>T" ], "proteinEffect": { "hgvs": "ENSP00000385127.1:n.169+7917G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS247134" }, { "coordinates": [ { "allele": "T", "end": 447, "endIntronDirection": "+", "endIntronOffset": 7716, "referenceAllele": "G", "start": 447, "startIntronDirection": "+", "startIntronOffset": 7715 } ], "gene": "http://reg.genome.network/gene/GN013590", "geneNCBI_id": 80204, "geneSymbol": "FBXO11", "hgvs": [ "ENST00000434234.5:c.*124+7716G>T" ], "proteinEffect": { "hgvs": "ENSP00000402692.1:n.*124+7716G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS292930" }, { "coordinates": [ { "allele": "A", "end": 2277, "referenceAllele": "C", "start": 2276 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000445503.5:c.*1642C>A" ], "proteinEffect": { "hgvs": "ENSP00000405294.1:n.*1642C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS298311" }, { "coordinates": [ { "allele": "A", "end": 2182, "referenceAllele": "C", "start": 2181 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000538136.1:c.1389C>A" ], "proteinEffect": { "hgvs": "ENSP00000438580.1:p.Cys463Ter", "hgvsWellDefined": "ENSP00000438580.1:p.Cys463_Leu1058delinsHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247195" }, { "coordinates": [ { "allele": "A", "end": 2057, "referenceAllele": "C", "start": 2056 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000540021.5:c.1905C>A" ], "proteinEffect": { "hgvs": "ENSP00000446475.1:p.Cys635Ter", "hgvsWellDefined": "ENSP00000446475.1:p.Cys635_Leu1230delinsHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247186" }, { "coordinates": [ { "allele": "A", "end": 2277, "referenceAllele": "C", "start": 2276 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000614496.4:c.1389C>A" ], "proteinEffect": { "hgvs": "ENSP00000477844.1:p.Cys463Ter", "hgvsWellDefined": "ENSP00000477844.1:p.Cys463_Leu1058delinsHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS402225" }, { "coordinates": [ { "allele": "A", "end": 2375, "referenceAllele": "C", "start": 2374 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000616033.4:c.2292C>A" ], "proteinEffect": { "hgvs": "ENSP00000480261.1:p.Cys764Ter", "hgvsWellDefined": "ENSP00000480261.1:p.Cys764_Leu1067delinsHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuGlyLysThrLeuAsnLysLeuValLeuArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS402884" }, { "coordinates": [ { "allele": "A", "end": 2447, "referenceAllele": "C", "start": 2446 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000622629.4:c.-802C>A" ], "proteinEffect": { "hgvs": "ENSP00000482078.1:n.-802C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS405814" }, { "@id": "http://reg.genome.network/allele/PA915964993", "coordinates": [ { "allele": "A", "end": 2447, "referenceAllele": "C", "start": 2446 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "NM_000179.2:c.2295C>A", "LRG_219t1:c.2295C>A" ], "proteinEffect": { "hgvs": "NP_000170.1:p.Cys765Ter", "hgvsWellDefined": "NP_000170.1:p.Cys765_Leu1360delinsHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006241" }, { "@id": "http://reg.genome.network/allele/PA2826627122", "coordinates": [ { "allele": "A", "end": 2057, "referenceAllele": "C", "start": 2056 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "NM_001281492.1:c.1905C>A" ], "proteinEffect": { "hgvs": "NP_001268421.1:p.Cys635Ter", "hgvsWellDefined": "NP_001268421.1:p.Cys635_Leu1230delinsHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS021654" }, { "@id": "http://reg.genome.network/allele/PA2826631472", "coordinates": [ { "allele": "A", "end": 2277, "referenceAllele": "C", "start": 2276 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "NM_001281493.1:c.1389C>A" ], "proteinEffect": { "hgvs": "NP_001268422.1:p.Cys463Ter", "hgvsWellDefined": "NP_001268422.1:p.Cys463_Leu1058delinsHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS021655" }, { "@id": "http://reg.genome.network/allele/PA2826636000", "coordinates": [ { "allele": "A", "end": 2182, "referenceAllele": "C", "start": 2181 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "NM_001281494.1:c.1389C>A" ], "proteinEffect": { "hgvs": "NP_001268423.1:p.Cys463Ter", "hgvsWellDefined": "NP_001268423.1:p.Cys463_Leu1058delinsHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS021656" }, { "coordinates": [ { "allele": "A", "end": 2093, "referenceAllele": "C", "start": 2092 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "XM_005264271.1:c.1998C>A" ], "proteinEffect": { "hgvs": "XP_005264328.1:p.Cys666Ter", "hgvsWellDefined": "XP_005264328.1:p.Cys666_Leu1261delinsHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064144" }, { "coordinates": [ { "allele": "A", "end": 2154, "referenceAllele": "C", "start": 2153 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "XM_011532798.1:c.2112C>A" ], "proteinEffect": { "hgvs": "XP_011531100.1:p.Cys704Ter", "hgvsWellDefined": "XP_011531100.1:p.Cys704_Leu1299delinsHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS099824" }, { "coordinates": [ { "allele": "A", "end": 2229, "referenceAllele": "C", "start": 2228 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "XM_011532799.1:c.1998C>A" ], "proteinEffect": { "hgvs": "XP_011531101.1:p.Cys666Ter", "hgvsWellDefined": "XP_011531101.1:p.Cys666_Leu1261delinsHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS099825" }, { "coordinates": [ { "allele": "A", "end": 2110, "referenceAllele": "C", "start": 2109 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "XM_011532800.1:c.1998C>A" ], "proteinEffect": { "hgvs": "XP_011531102.1:p.Cys666Ter", "hgvsWellDefined": "XP_011531102.1:p.Cys666_Leu1261delinsHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS099826" }, { "coordinates": [ { "allele": "A", "end": 2384, "referenceAllele": "C", "start": 2383 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "XM_024452819.1:c.2295C>A" ], "proteinEffect": { "hgvs": "XP_024308587.1:p.Cys765Ter", "hgvsWellDefined": "XP_024308587.1:p.Cys765_Leu1391delinsHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetValCysAlaAsnCysPhePheProGlnIleArgPhePheGluArgAlaLeuLeuLeuLeuAlaHisValSerLeuIlePhePhePheLeuLysAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS586209" }, { "coordinates": [ { "allele": "A", "end": 2154, "referenceAllele": "C", "start": 2153 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "XM_024452820.1:c.2112C>A" ], "proteinEffect": { "hgvs": "XP_024308588.1:p.Cys704Ter", "hgvsWellDefined": "XP_024308588.1:p.Cys704_Leu1330delinsHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetValCysAlaAsnCysPhePheProGlnIleArgPhePheGluArgAlaLeuLeuLeuLeuAlaHisValSerLeuIlePhePhePheLeuLysAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS586210" }, { "coordinates": [ { "allele": "A", "end": 2229, "referenceAllele": "C", "start": 2228 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "XM_024452821.1:c.1998C>A" ], "proteinEffect": { "hgvs": "XP_024308589.1:p.Cys666Ter", "hgvsWellDefined": "XP_024308589.1:p.Cys666_Leu1292delinsHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetValCysAlaAsnCysPhePheProGlnIleArgPhePheGluArgAlaLeuLeuLeuLeuAlaHisValSerLeuIlePhePhePheLeuLysAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS586211" }, { "coordinates": [ { "allele": "A", "end": 2181, "referenceAllele": "C", "start": 2180 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "XM_024452822.1:c.1389C>A" ], "proteinEffect": { "hgvs": "XP_024308590.1:p.Cys463Ter", "hgvsWellDefined": "XP_024308590.1:p.Cys463_Leu1089delinsHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetValCysAlaAsnCysPhePheProGlnIleArgPhePheGluArgAlaLeuLeuLeuLeuAlaHisValSerLeuIlePhePhePheLeuLysAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS586212" }, { "@id": "http://reg.genome.network/allele/PA915964993", "coordinates": [ { "allele": "A", "end": 2384, "referenceAllele": "C", "start": 2383 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "NM_000179.3:c.2295C>A" ], "proteinEffect": { "hgvs": "NP_000170.1:p.Cys765Ter", "hgvsWellDefined": "NP_000170.1:p.Cys765_Leu1360delinsHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674738", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000234420.11:c.2295C>A" }, "RefSeq": { "hgvs": "NM_000179.3:c.2295C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000234420.5:p.Cys765Ter" }, "RefSeq": { "hgvs": "NP_000170.1:p.Cys765Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826627122", "coordinates": [ { "allele": "A", "end": 1994, "referenceAllele": "C", "start": 1993 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "NM_001281492.2:c.1905C>A" ], "proteinEffect": { "hgvs": "NP_001268421.1:p.Cys635Ter", "hgvsWellDefined": "NP_001268421.1:p.Cys635_Leu1230delinsHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715702" }, { "@id": "http://reg.genome.network/allele/PA2826631472", "coordinates": [ { "allele": "A", "end": 2214, "referenceAllele": "C", "start": 2213 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "NM_001281493.2:c.1389C>A" ], "proteinEffect": { "hgvs": "NP_001268422.1:p.Cys463Ter", "hgvsWellDefined": "NP_001268422.1:p.Cys463_Leu1058delinsHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715703" }, { "@id": "http://reg.genome.network/allele/PA2826636000", "coordinates": [ { "allele": "A", "end": 2182, "referenceAllele": "C", "start": 2181 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "NM_001281494.2:c.1389C>A" ], "proteinEffect": { "hgvs": "NP_001268423.1:p.Cys463Ter", "hgvsWellDefined": "NP_001268423.1:p.Cys463_Leu1058delinsHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuAspValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715704" } ], "type": "nucleotide" }