{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA011979", "communityStandardTitle": [ "NM_000249.4(MLH1):c.76C>T (p.Gln26Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=95821[alleleid]", "alleleId": 95821, "preferredName": "NM_000249.4(MLH1):c.76C>T (p.Gln26Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/90347", "RCV": [ "RCV000075838", "RCV000520796", "RCV001258082", "RCV001854309", "RCV002399450" ], "variationId": 90347 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.37035114C>T?assembly=hg19", "id": "chr3:g.37035114C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.36993623C>T?assembly=hg38", "id": "chr3:g.36993623C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/63749827", "rs": 63749827 } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "T", "end": 36993623, "referenceAllele": "C", "start": 36993622 } ], "hgvs": [ "NC_000003.12:g.36993623C>T", "CM000665.2:g.36993623C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "T", "end": 37035114, "referenceAllele": "C", "start": 37035113 } ], "hgvs": [ "NC_000003.11:g.37035114C>T", "CM000665.1:g.37035114C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "T", "end": 37010118, "referenceAllele": "C", "start": 37010117 } ], "hgvs": [ "NC_000003.10:g.37010118C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "T", "end": 5274, "referenceAllele": "C", "start": 5273 } ], "hgvs": [ "NG_007109.2:g.5274C>T", "LRG_216:g.5274C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000485" }, { "coordinates": [ { "allele": "A", "end": 4682, "referenceAllele": "G", "start": 4681 } ], "hgvs": [ "NG_008418.1:g.4682G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001090" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 267, "referenceAllele": "C", "start": 266 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000413740.2:c.76C>T" ], "proteinEffect": { "hgvs": "ENSP00000416476.2:p.Gln26Ter", "hgvsWellDefined": "ENSP00000416476.2:p.Gln26_Lys612del" }, "referenceSequence": "http://reg.genome.network/refseq/RS914028" }, { "coordinates": [ { "allele": "T", "end": 106, "referenceAllele": "C", "start": 105 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000450420.6:c.76C>T" ], "proteinEffect": { "hgvs": "ENSP00000393006.2:p.Gln26Ter", "hgvsWellDefined": "ENSP00000393006.2:p.Gln26_Glu520delinsArgProAlaAsnAlaIleLysGluMetIleGluAsnCysLeuAspAlaLysSerThrSerIleGlnValIleValLysGluGlyGlyLeuLysLeuIleGlnIleGlnAspAsnGlyThrGlyIleArgLysGluAspLeuAspIleValCysGluArgPheThrThrSerLysLeuGlnSerPheGluAspLeuAlaSerIleSerThrTyrGlyPheArgGlyGluAlaLeuAlaSerIleSerHisValAlaHisValThrIleThrThrLysThrAlaAspGlyLysCysAlaTyrArgAlaSerTyrSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914085" }, { "coordinates": [ { "allele": "T", "end": 106, "referenceAllele": "C", "start": 105 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000456676.7:c.76C>T" ], "proteinEffect": { "hgvs": "ENSP00000416687.3:p.Gln26Ter", "hgvsWellDefined": "ENSP00000416687.3:p.Gln26_Cys687delinsArgProAlaAsnAlaIleLysGluMetIleGluAsnCysLeuAspAlaLysSerThrSerIleGlnValIleValLysGluGlyGlyLeuLysLeuIleGlnIleGlnAspAsnGlyThrGlyIleArgLysGluAspLeuAspIleValCysGluArgPheThrThrSerLysLeuGlnSerPheGluAspLeuAlaSerIleSerThrTyrGlyPheArgGlyGluAlaLeuAlaSerIleSerHisValAlaHisValThrIleThrThrLysThrAlaAspGlyLysCysAlaTyrArgAlaSerTyrSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914097" }, { "coordinates": [ { "allele": "T", "end": 106, "referenceAllele": "C", "start": 105 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000458009.6:c.76C>T" ], "proteinEffect": { "hgvs": "ENSP00000411066.2:p.Gln26Ter", "hgvsWellDefined": "ENSP00000411066.2:p.Gln26_Val314delinsArgProAlaAsnAlaIleLysGluMetIleGluAsnCysLeuAspAlaLysSerThrSerIleGlnValIleValLysGluGlyGlyLeuLysLeuIleGlnIleGlnAspAsnGlyThrGlyIleArgLysGluAspLeuAspIleValCysGluArgPheThrThrSerLysLeuGlnSerPheGluAspLeuAlaSerIleSerThrTyrGlyPheArgGlyGluAlaLeuAlaSerIleSerHisValAlaHisValThrIleThrThrLysThrAlaAspGlyLysCysAlaTyrArgAlaSerTyrSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuArgLeuCysTyrGlnAspLeuLeuAlaProLeuGlyArgTrpLeuAsnProGlnGlnValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914099" }, { "coordinates": [ { "allele": "T", "end": 152, "referenceAllele": "C", "start": 151 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000616768.6:c.76C>T" ], "proteinEffect": { "hgvs": "ENSP00000480669.3:p.Gln26Ter", "hgvsWellDefined": "ENSP00000480669.3:p.Gln26_Cys725delinsArgProAlaAsnAlaIleLysGluMetIleGluAsnCysLeuAspAlaLysSerThrSerIleGlnValIleValLysGluGlyGlyLeuLysLeuIleGlnIleGlnAspAsnGlyThrGlyIleArgLysGluAspLeuAspIleValCysGluArgPheThrThrSerLysLeuGlnSerPheGluAspLeuAlaSerIleSerThrTyrGlyPheArgGlyGluAlaLeuAlaSerIleSerHisValAlaHisValThrIleThrThrLysThrAlaAspGlyLysCysAlaTyrArgAlaSerTyrSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914365" }, { "coordinates": [ { "allele": "T", "end": 398, "referenceAllele": "C", "start": 397 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000673673.2:c.76C>T" ], "proteinEffect": { "hgvs": "ENSP00000500979.2:p.Gln26Ter", "hgvsWellDefined": "ENSP00000500979.2:p.Gln26_Cys701delinsArgProAlaAsnAlaIleLysGluMetIleGluAsnCysLeuAspAlaLysSerThrSerIleGlnValIleValLysGluGlyGlyLeuLysLeuIleGlnIleGlnAspAsnGlyThrGlyIleArgLysGluAspLeuAspIleValCysGluArgPheThrThrSerLysLeuGlnSerPheGluAspLeuAlaSerIleSerThrTyrGlyPheArgGlyGluAlaLeuAlaSerIleSerHisValAlaHisValThrIleThrThrLysThrAlaAspGlyLysCysAlaTyrArgAlaSerTyrSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914447" }, { "coordinates": [ { "allele": "T", "end": 106, "referenceAllele": "C", "start": 105 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000231790.8:c.76C>T" ], "proteinEffect": { "hgvs": "ENSP00000231790.3:p.Gln26Ter", "hgvsWellDefined": "ENSP00000231790.3:p.Gln26_Cys756delinsArgProAlaAsnAlaIleLysGluMetIleGluAsnCysLeuAspAlaLysSerThrSerIleGlnValIleValLysGluGlyGlyLeuLysLeuIleGlnIleGlnAspAsnGlyThrGlyIleArgLysGluAspLeuAspIleValCysGluArgPheThrThrSerLysLeuGlnSerPheGluAspLeuAlaSerIleSerThrTyrGlyPheArgGlyGluAlaLeuAlaSerIleSerHisValAlaHisValThrIleThrThrLysThrAlaAspGlyLysCysAlaTyrArgAlaSerTyrSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS740875", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000231790.8:c.76C>T" }, "RefSeq": { "hgvs": "NM_000249.4:c.76C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000231790.3:p.Gln26Ter" }, "RefSeq": { "hgvs": "NP_000240.1:p.Gln26Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 100, "referenceAllele": "C", "start": 99 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000432299.6:c.76C>T" ], "proteinEffect": { "hgvs": "ENSP00000416783.1:p.Gln26Ter", "hgvsWellDefined": "ENSP00000416783.1:p.Gln26_Thr48delinsArgProAlaAsnAlaIleLysGluMetIleGluAsnTrpTyrGlyGlySerArgAlaGlyLeuThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS755407" }, { "coordinates": [ { "allele": "T", "end": 91, "referenceAllele": "C", "start": 90 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000442249.6:n.91C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS755895" }, { "coordinates": [ { "allele": "T", "end": 29, "referenceAllele": "C", "start": 28 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000673673.1:c.29C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS773774" }, { "coordinates": [ { "allele": "T", "end": 107, "referenceAllele": "C", "start": 106 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000673713.1:n.107C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS773810" }, { "coordinates": [ { "allele": "T", "end": 101, "referenceAllele": "C", "start": 100 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000673715.1:c.76C>T" ], "proteinEffect": { "hgvs": "ENSP00000501301.1:p.Gln26Ter", "hgvsWellDefined": "ENSP00000501301.1:p.Gln26_Val633delinsArgProAlaAsnAlaIleLysGluMetIleGluAsnCysLeuAspAlaLysSerThrSerIleGlnValIleValLysGluGlyGlyLeuLysLeuIleGlnIleGlnAspAsnGlyThrGlyIleArgLysGluAspLeuAspIleValCysGluArgPheThrThrSerLysLeuGlnSerPheGluAspLeuAlaSerIleSerThrTyrGlyPheArgGlyGluAlaLeuAlaSerIleSerHisValAlaHisValThrIleThrThrLysThrAlaAspGlyLysCysAlaTyrArgAlaSerTyrSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773811" }, { "coordinates": [ { "allele": "T", "end": 93, "referenceAllele": "C", "start": 92 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000673897.1:c.76C>T" ], "proteinEffect": { "hgvs": "ENSP00000501109.1:p.Gln26Ter", "hgvsWellDefined": "ENSP00000501109.1:p.Gln26_Asn38delinsArgProAlaAsnAlaIleLysGluMetIleGluAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773953" }, { "coordinates": [ { "allele": "T", "end": 135, "referenceAllele": "C", "start": 134 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000673899.1:c.76C>T" ], "proteinEffect": { "hgvs": "ENSP00000501030.1:p.Gln26Ter", "hgvsWellDefined": "ENSP00000501030.1:p.Gln26_Cys512delinsArgProAlaAsnAlaIleLysGluMetIleGluAsnCysLeuAspAlaLysSerThrSerIleGlnValIleValLysGluGlyGlyLeuLysLeuIleGlnIleGlnAspAsnGlyThrGlyIleArgLysGluAspLeuAspIleValCysGluArgPheThrThrSerLysLeuGlnSerPheGluAspLeuAlaSerIleSerThrTyrGlyPheArgGlyGluAlaLeuAlaSerIleSerHisValAlaHisValThrIleThrThrLysThrAlaAspGlyLysCysAlaTyrArgAlaSerTyrSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773955" }, { "coordinates": [ { "allele": "T", "end": 85, "referenceAllele": "C", "start": 84 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000673947.1:c.76C>T" ], "proteinEffect": { "hgvs": "ENSP00000501304.1:p.Gln26Ter", "hgvsWellDefined": "ENSP00000501304.1:p.Gln26_Asn38delinsArgProAlaAsnAlaIleLysGluMetIleGluAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773999" }, { "coordinates": [ { "allele": "T", "end": 109, "referenceAllele": "C", "start": 108 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000673972.1:c.76C>T" ], "proteinEffect": { "hgvs": "ENSP00000501281.1:p.Gln26Ter", "hgvsWellDefined": "ENSP00000501281.1:p.Gln26_Asn38delinsArgProAlaAsnAlaIleLysGluMetIleGluAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774014" }, { "coordinates": [ { 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"ENSP00000501162.1:p.Gln26_Pro568delinsArgProAlaAsnAlaIleLysGluMetIleGluAsnCysLeuAspAlaLysSerThrSerIleGlnValIleValLysGluGlyGlyLeuLysLeuIleGlnIleGlnAspAsnGlyThrGlyIleArgLysGluAspLeuAspIleValCysGluArgPheThrThrSerLysLeuGlnSerPheGluAspLeuAlaSerIleSerThrTyrGlyPheArgGlyGluAlaLeuAlaSerIleSerHisValAlaHisValThrIleThrThrLysThrAlaAspGlyLysCysAlaTyrArgAlaSerTyrSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuArgSerGlnHisArgSerLeuThrLeuProCysLeuProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774130" }, { "coordinates": [ { "allele": "T", "end": 292, "referenceAllele": "C", "start": 291 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000231790.6:c.76C>T" ], "proteinEffect": { "hgvs": "ENSP00000231790.2:p.Gln26Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS246728" }, { "coordinates": [ { "allele": "T", "end": 100, "referenceAllele": "C", "start": 99 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000432299.5:c.76C>T" ], "proteinEffect": { "hgvs": "ENSP00000416783.1:p.Gln26Ter", "hgvsWellDefined": "ENSP00000416783.1:p.Gln26_Thr48delinsArgProAlaAsnAlaIleLysGluMetIleGluAsnTrpTyrGlyGlySerArgAlaGlyLeuThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS292022" }, { "coordinates": [ { "allele": "T", "end": 91, "referenceAllele": "C", "start": 90 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000442249.5:c.76C>T" ], "proteinEffect": { "hgvs": "ENSP00000387511.1:p.Gln26Ter", "hgvsWellDefined": "ENSP00000387511.1:p.Gln26_Asn38delinsArgProAlaAsnAlaIleLysGluMetIleGluAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS296790" }, { "coordinates": [ { "allele": "T", "end": 90, "referenceAllele": "C", "start": 89 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000454028.5:c.76C>T" ], "proteinEffect": { "hgvs": "ENSP00000392649.1:p.Gln26Ter", "hgvsWellDefined": "ENSP00000392649.1:p.Gln26_Asn38delinsArgProAlaAsnAlaIleLysGluMetIleGluAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS302384" }, { "coordinates": [ { "allele": "T", "end": 51, "referenceAllele": "C", "start": 50 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000456676.6:c.51C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS247416" }, { "coordinates": [ { "allele": "T", "end": 108, "referenceAllele": "C", "start": 107 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000457004.5:c.76C>T" ], "proteinEffect": { "hgvs": "ENSP00000407773.1:p.Gln26Ter", "hgvsWellDefined": "ENSP00000407773.1:p.Gln26_Asn38delinsArgProAlaAsnAlaIleLysGluMetIleGluAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS303743" }, { "coordinates": [ { "allele": "T", "end": 274, "referenceAllele": "C", "start": 273 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000536378.5:c.-557C>T" ], "proteinEffect": { "hgvs": "ENSP00000444286.2:n.-557C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS247118" }, { "@id": "http://reg.genome.network/allele/PA331116", "coordinates": [ { "allele": "T", "end": 274, "referenceAllele": "C", "start": 273 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_000249.3:c.76C>T", "LRG_216t1:c.76C>T" ], "proteinEffect": { "hgvs": "NP_000240.1:p.Gln26Ter", "hgvsWellDefined": "NP_000240.1:p.Gln26_Cys756delinsArgProAlaAsnAlaIleLysGluMetIleGluAsnCysLeuAspAlaLysSerThrSerIleGlnValIleValLysGluGlyGlyLeuLysLeuIleGlnIleGlnAspAsnGlyThrGlyIleArgLysGluAspLeuAspIleValCysGluArgPheThrThrSerLysLeuGlnSerPheGluAspLeuAlaSerIleSerThrTyrGlyPheArgGlyGluAlaLeuAlaSerIleSerHisValAlaHisValThrIleThrThrLysThrAlaAspGlyLysCysAlaTyrArgAlaSerTyrSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006311" }, { "@id": "http://reg.genome.network/allele/PA2826456500", "coordinates": [ { "allele": "T", "end": 274, "referenceAllele": "C", "start": 273 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001258271.1:c.76C>T" ], "proteinEffect": { "hgvs": "NP_001245200.1:p.Gln26Ter", "hgvsWellDefined": "NP_001245200.1:p.Gln26_Cys687delinsArgProAlaAsnAlaIleLysGluMetIleGluAsnCysLeuAspAlaLysSerThrSerIleGlnValIleValLysGluGlyGlyLeuLysLeuIleGlnIleGlnAspAsnGlyThrGlyIleArgLysGluAspLeuAspIleValCysGluArgPheThrThrSerLysLeuGlnSerPheGluAspLeuAlaSerIleSerThrTyrGlyPheArgGlyGluAlaLeuAlaSerIleSerHisValAlaHisValThrIleThrThrLysThrAlaAspGlyLysCysAlaTyrArgAlaSerTyrSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019757" }, { "coordinates": [ { "allele": "T", "end": 274, "referenceAllele": "C", "start": 273 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001258273.1:c.-557C>T" ], "proteinEffect": { "hgvs": "NP_001245202.1:n.-557C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS019759" }, { "coordinates": [ { "allele": "T", "end": 164, "referenceAllele": "C", "start": 163 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "XM_005265161.1:c.76C>T" ], "proteinEffect": { "hgvs": "XP_005265218.1:p.Gln26Ter", "hgvsWellDefined": "XP_005265218.1:p.Gln26_Cys687delinsArgProAlaAsnAlaIleLysGluMetIleGluAsnCysLeuAspAlaLysSerThrSerIleGlnValIleValLysGluGlyGlyLeuLysLeuIleGlnIleGlnAspAsnGlyThrGlyIleArgLysGluAspLeuAspIleValCysGluArgPheThrThrSerLysLeuGlnSerPheGluAspLeuAlaSerIleSerThrTyrGlyPheArgGlyGluAlaLeuAlaSerIleSerHisValAlaHisValThrIleThrThrLysThrAlaAspGlyLysCysAlaTyrArgAlaSerTyrSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064527" }, { "coordinates": [ { "allele": "T", "end": 132, "referenceAllele": "C", "start": 131 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "XM_005265164.1:c.-643C>T" ], "proteinEffect": { "hgvs": "XP_005265221.1:n.-643C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS064529" }, { "coordinates": [ { "allele": "T", "end": 274, "referenceAllele": "C", "start": 273 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167617.2:c.-441C>T" ], "proteinEffect": { "hgvs": "NP_001161089.1:n.-441C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS511683" }, { "coordinates": [ { "allele": "T", "end": 274, "referenceAllele": "C", "start": 273 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167618.2:c.-870C>T" ], "proteinEffect": { "hgvs": "NP_001161090.1:n.-870C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS511684" }, { "coordinates": [ { "allele": "T", "end": 274, "referenceAllele": "C", "start": 273 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167619.2:c.-783C>T" ], "proteinEffect": { "hgvs": "NP_001161091.1:n.-783C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS511685" }, { "coordinates": [ { "allele": "T", "end": 274, "referenceAllele": "C", "start": 273 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001258274.2:c.-1020C>T" ], "proteinEffect": { "hgvs": "NP_001245203.1:n.-1020C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS511992" }, { "coordinates": [ { "allele": "T", "end": 274, "referenceAllele": "C", "start": 273 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354615.1:c.-551C>T" ], "proteinEffect": { "hgvs": "NP_001341544.1:n.-551C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS522556" }, { "coordinates": [ { "allele": "T", "end": 274, "referenceAllele": "C", "start": 273 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354616.1:c.-551C>T" ], "proteinEffect": { "hgvs": "NP_001341545.1:n.-551C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS522557" }, { "coordinates": [ { "allele": "T", "end": 274, "referenceAllele": "C", "start": 273 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354617.1:c.-643C>T" ], "proteinEffect": { "hgvs": "NP_001341546.1:n.-643C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS522558" }, { "coordinates": [ { "allele": "T", "end": 274, "referenceAllele": "C", "start": 273 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354618.1:c.-875C>T" ], "proteinEffect": { "hgvs": "NP_001341547.1:n.-875C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS522559" }, { "coordinates": [ { "allele": "T", "end": 274, "referenceAllele": "C", "start": 273 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354619.1:c.-999C>T" ], "proteinEffect": { "hgvs": "NP_001341548.1:n.-999C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS522560" }, { "coordinates": [ { "allele": "T", "end": 274, "referenceAllele": "C", "start": 273 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354620.1:c.-209C>T" ], "proteinEffect": { "hgvs": "NP_001341549.1:n.-209C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS522561" }, { "coordinates": [ { "allele": "T", "end": 274, "referenceAllele": "C", "start": 273 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354621.1:c.-968C>T" ], "proteinEffect": { "hgvs": "NP_001341550.1:n.-968C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS522562" }, { "coordinates": [ { "allele": "T", "end": 274, "referenceAllele": "C", "start": 273 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354622.1:c.-1081C>T" ], "proteinEffect": { "hgvs": "NP_001341551.1:n.-1081C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS522563" }, { "coordinates": [ { "allele": "T", "end": 274, "referenceAllele": "C", "start": 273 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354623.1:c.-990C>T" ], "proteinEffect": { "hgvs": "NP_001341552.1:n.-990C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS522564" }, { "coordinates": [ { "allele": "T", "end": 274, "referenceAllele": "C", "start": 273 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354624.1:c.-751C>T" ], "proteinEffect": { "hgvs": "NP_001341553.1:n.-751C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS522565" }, { "coordinates": [ { "allele": "T", "end": 274, "referenceAllele": "C", "start": 273 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354625.1:c.-649C>T" ], "proteinEffect": { "hgvs": "NP_001341554.1:n.-649C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS522566" }, { "coordinates": [ { "allele": "T", "end": 274, "referenceAllele": "C", "start": 273 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354626.1:c.-746C>T" ], "proteinEffect": { "hgvs": "NP_001341555.1:n.-746C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS522567" }, { "coordinates": [ { "allele": "T", "end": 274, "referenceAllele": "C", "start": 273 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354627.1:c.-978C>T" ], "proteinEffect": { "hgvs": "NP_001341556.1:n.-978C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS522568" }, { "@id": "http://reg.genome.network/allele/PA2827906011", "coordinates": [ { "allele": "T", "end": 274, "referenceAllele": "C", "start": 273 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354628.1:c.76C>T" ], "proteinEffect": { "hgvs": "NP_001341557.1:p.Gln26Ter", "hgvsWellDefined": "NP_001341557.1:p.Gln26_Cys725delinsArgProAlaAsnAlaIleLysGluMetIleGluAsnCysLeuAspAlaLysSerThrSerIleGlnValIleValLysGluGlyGlyLeuLysLeuIleGlnIleGlnAspAsnGlyThrGlyIleArgLysGluAspLeuAspIleValCysGluArgPheThrThrSerLysLeuGlnSerPheGluAspLeuAlaSerIleSerThrTyrGlyPheArgGlyGluAlaLeuAlaSerIleSerHisValAlaHisValThrIleThrThrLysThrAlaAspGlyLysCysAlaTyrArgAlaSerTyrSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522569" }, { "@id": "http://reg.genome.network/allele/PA2827908524", "coordinates": [ { "allele": "T", "end": 274, "referenceAllele": "C", "start": 273 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354629.1:c.76C>T" ], "proteinEffect": { "hgvs": "NP_001341558.1:p.Gln26Ter", "hgvsWellDefined": "NP_001341558.1:p.Gln26_Cys723delinsArgProAlaAsnAlaIleLysGluMetIleGluAsnCysLeuAspAlaLysSerThrSerIleGlnValIleValLysGluGlyGlyLeuLysLeuIleGlnIleGlnAspAsnGlyThrGlyIleArgAlaLeuAlaSerIleSerHisValAlaHisValThrIleThrThrLysThrAlaAspGlyLysCysAlaTyrArgAlaSerTyrSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522570" }, { "@id": "http://reg.genome.network/allele/PA916038584", "coordinates": [ { "allele": "T", "end": 274, "referenceAllele": "C", "start": 273 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354630.1:c.76C>T" ], "proteinEffect": { "hgvs": "NP_001341559.1:p.Gln26Ter", "hgvsWellDefined": "NP_001341559.1:p.Gln26_Cys701delinsArgProAlaAsnAlaIleLysGluMetIleGluAsnCysLeuAspAlaLysSerThrSerIleGlnValIleValLysGluGlyGlyLeuLysLeuIleGlnIleGlnAspAsnGlyThrGlyIleArgLysGluAspLeuAspIleValCysGluArgPheThrThrSerLysLeuGlnSerPheGluAspLeuAlaSerIleSerThrTyrGlyPheArgGlyGluAlaLeuAlaSerIleSerHisValAlaHisValThrIleThrThrLysThrAlaAspGlyLysCysAlaTyrArgAlaSerTyrSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522571" }, { "coordinates": [ { "allele": "T", "end": 137, "referenceAllele": "C", "start": 136 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "XM_005265161.2:c.76C>T" ], "proteinEffect": { "hgvs": "XP_005265218.1:p.Gln26Ter", "hgvsWellDefined": "XP_005265218.1:p.Gln26_Cys687delinsArgProAlaAsnAlaIleLysGluMetIleGluAsnCysLeuAspAlaLysSerThrSerIleGlnValIleValLysGluGlyGlyLeuLysLeuIleGlnIleGlnAspAsnGlyThrGlyIleArgLysGluAspLeuAspIleValCysGluArgPheThrThrSerLysLeuGlnSerPheGluAspLeuAlaSerIleSerThrTyrGlyPheArgGlyGluAlaLeuAlaSerIleSerHisValAlaHisValThrIleThrThrLysThrAlaAspGlyLysCysAlaTyrArgAlaSerTyrSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536007" }, { "coordinates": [ { "allele": "T", "end": 118, "referenceAllele": "C", "start": 117 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "XM_017006450.2:c.-736C>T" ], "proteinEffect": { "hgvs": "XP_016861939.1:n.-736C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS561484" }, { "@id": "http://reg.genome.network/allele/PA331116", "coordinates": [ { "allele": "T", "end": 106, "referenceAllele": "C", "start": 105 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_000249.4:c.76C>T" ], "proteinEffect": { "hgvs": "NP_000240.1:p.Gln26Ter", "hgvsWellDefined": "NP_000240.1:p.Gln26_Cys756delinsArgProAlaAsnAlaIleLysGluMetIleGluAsnCysLeuAspAlaLysSerThrSerIleGlnValIleValLysGluGlyGlyLeuLysLeuIleGlnIleGlnAspAsnGlyThrGlyIleArgLysGluAspLeuAspIleValCysGluArgPheThrThrSerLysLeuGlnSerPheGluAspLeuAlaSerIleSerThrTyrGlyPheArgGlyGluAlaLeuAlaSerIleSerHisValAlaHisValThrIleThrThrLysThrAlaAspGlyLysCysAlaTyrArgAlaSerTyrSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674761", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000231790.8:c.76C>T" }, "RefSeq": { "hgvs": "NM_000249.4:c.76C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000231790.3:p.Gln26Ter" }, "RefSeq": { "hgvs": "NP_000240.1:p.Gln26Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 106, "referenceAllele": "C", "start": 105 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167617.3:c.-441C>T" ], "proteinEffect": { "hgvs": "NP_001161089.1:n.-441C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS713242" }, { "coordinates": [ { "allele": "T", "end": 106, "referenceAllele": "C", "start": 105 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167618.3:c.-870C>T" ], "proteinEffect": { "hgvs": "NP_001161090.1:n.-870C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS713243" }, { "coordinates": [ { "allele": "T", "end": 106, "referenceAllele": "C", "start": 105 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167619.3:c.-783C>T" ], "proteinEffect": { "hgvs": "NP_001161091.1:n.-783C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS713244" }, { "@id": "http://reg.genome.network/allele/PA2826456500", "coordinates": [ { "allele": "T", "end": 106, "referenceAllele": "C", "start": 105 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001258271.2:c.76C>T" ], "proteinEffect": { "hgvs": "NP_001245200.1:p.Gln26Ter", "hgvsWellDefined": "NP_001245200.1:p.Gln26_Cys687delinsArgProAlaAsnAlaIleLysGluMetIleGluAsnCysLeuAspAlaLysSerThrSerIleGlnValIleValLysGluGlyGlyLeuLysLeuIleGlnIleGlnAspAsnGlyThrGlyIleArgLysGluAspLeuAspIleValCysGluArgPheThrThrSerLysLeuGlnSerPheGluAspLeuAlaSerIleSerThrTyrGlyPheArgGlyGluAlaLeuAlaSerIleSerHisValAlaHisValThrIleThrThrLysThrAlaAspGlyLysCysAlaTyrArgAlaSerTyrSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714924" }, { "coordinates": [ { "allele": "T", "end": 106, "referenceAllele": "C", "start": 105 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001258273.2:c.-557C>T" ], "proteinEffect": { "hgvs": "NP_001245202.1:n.-557C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS714925" }, { "coordinates": [ { "allele": "T", "end": 106, "referenceAllele": "C", "start": 105 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001258274.3:c.-1020C>T" ], "proteinEffect": { "hgvs": "NP_001245203.1:n.-1020C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS714926" }, { "coordinates": [ { "allele": "T", "end": 106, "referenceAllele": "C", "start": 105 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354615.2:c.-551C>T" ], "proteinEffect": { "hgvs": "NP_001341544.1:n.-551C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS720517" }, { "coordinates": [ { "allele": "T", "end": 106, "referenceAllele": "C", "start": 105 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354616.2:c.-551C>T" ], "proteinEffect": { "hgvs": "NP_001341545.1:n.-551C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS720518" }, { "coordinates": [ { "allele": "T", "end": 106, "referenceAllele": "C", "start": 105 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354617.2:c.-643C>T" ], "proteinEffect": { "hgvs": "NP_001341546.1:n.-643C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS720519" }, { "coordinates": [ { "allele": "T", "end": 106, "referenceAllele": "C", "start": 105 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354618.2:c.-875C>T" ], "proteinEffect": { "hgvs": "NP_001341547.1:n.-875C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS720520" }, { "coordinates": [ { "allele": "T", "end": 106, "referenceAllele": "C", "start": 105 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354619.2:c.-999C>T" ], "proteinEffect": { "hgvs": "NP_001341548.1:n.-999C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS720521" }, { "coordinates": [ { "allele": "T", "end": 106, "referenceAllele": "C", "start": 105 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354620.2:c.-209C>T" ], "proteinEffect": { "hgvs": "NP_001341549.1:n.-209C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS720522" }, { "coordinates": [ { "allele": "T", "end": 106, "referenceAllele": "C", "start": 105 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354621.2:c.-968C>T" ], "proteinEffect": { "hgvs": "NP_001341550.1:n.-968C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS720523" }, { "coordinates": [ { "allele": "T", "end": 106, "referenceAllele": "C", "start": 105 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354622.2:c.-1081C>T" ], "proteinEffect": { "hgvs": "NP_001341551.1:n.-1081C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS720524" }, { "coordinates": [ { "allele": "T", "end": 106, "referenceAllele": "C", "start": 105 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354623.2:c.-990C>T" ], "proteinEffect": { "hgvs": "NP_001341552.1:n.-990C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS720525" }, { "coordinates": [ { "allele": "T", "end": 106, "referenceAllele": "C", "start": 105 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354624.2:c.-751C>T" ], "proteinEffect": { "hgvs": "NP_001341553.1:n.-751C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS720526" }, { "coordinates": [ { "allele": "T", "end": 106, "referenceAllele": "C", "start": 105 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354625.2:c.-649C>T" ], "proteinEffect": { "hgvs": "NP_001341554.1:n.-649C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS720527" }, { "coordinates": [ { "allele": "T", "end": 106, "referenceAllele": "C", "start": 105 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354626.2:c.-746C>T" ], "proteinEffect": { "hgvs": "NP_001341555.1:n.-746C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS720528" }, { "coordinates": [ { "allele": "T", "end": 106, "referenceAllele": "C", "start": 105 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354627.2:c.-978C>T" ], "proteinEffect": { "hgvs": "NP_001341556.1:n.-978C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS720529" }, { "@id": "http://reg.genome.network/allele/PA2827906011", "coordinates": [ { "allele": "T", "end": 106, "referenceAllele": "C", "start": 105 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354628.2:c.76C>T" ], "proteinEffect": { "hgvs": "NP_001341557.1:p.Gln26Ter", "hgvsWellDefined": "NP_001341557.1:p.Gln26_Cys725delinsArgProAlaAsnAlaIleLysGluMetIleGluAsnCysLeuAspAlaLysSerThrSerIleGlnValIleValLysGluGlyGlyLeuLysLeuIleGlnIleGlnAspAsnGlyThrGlyIleArgLysGluAspLeuAspIleValCysGluArgPheThrThrSerLysLeuGlnSerPheGluAspLeuAlaSerIleSerThrTyrGlyPheArgGlyGluAlaLeuAlaSerIleSerHisValAlaHisValThrIleThrThrLysThrAlaAspGlyLysCysAlaTyrArgAlaSerTyrSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720530" }, { "@id": "http://reg.genome.network/allele/PA2827908524", "coordinates": [ { "allele": "T", "end": 106, "referenceAllele": "C", "start": 105 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354629.2:c.76C>T" ], "proteinEffect": { "hgvs": "NP_001341558.1:p.Gln26Ter", "hgvsWellDefined": "NP_001341558.1:p.Gln26_Cys723delinsArgProAlaAsnAlaIleLysGluMetIleGluAsnCysLeuAspAlaLysSerThrSerIleGlnValIleValLysGluGlyGlyLeuLysLeuIleGlnIleGlnAspAsnGlyThrGlyIleArgAlaLeuAlaSerIleSerHisValAlaHisValThrIleThrThrLysThrAlaAspGlyLysCysAlaTyrArgAlaSerTyrSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720531" }, { "@id": "http://reg.genome.network/allele/PA916038584", "coordinates": [ { "allele": "T", "end": 106, "referenceAllele": "C", "start": 105 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354630.2:c.76C>T" ], "proteinEffect": { "hgvs": "NP_001341559.1:p.Gln26Ter", "hgvsWellDefined": "NP_001341559.1:p.Gln26_Cys701delinsArgProAlaAsnAlaIleLysGluMetIleGluAsnCysLeuAspAlaLysSerThrSerIleGlnValIleValLysGluGlyGlyLeuLysLeuIleGlnIleGlnAspAsnGlyThrGlyIleArgLysGluAspLeuAspIleValCysGluArgPheThrThrSerLysLeuGlnSerPheGluAspLeuAlaSerIleSerThrTyrGlyPheArgGlyGluAlaLeuAlaSerIleSerHisValAlaHisValThrIleThrThrLysThrAlaAspGlyLysCysAlaTyrArgAlaSerTyrSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720532" } ], "type": "nucleotide" }