{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA352038038", "communityStandardTitle": [ "NM_000249.4(MLH1):c.378C>A (p.Tyr126Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2841963[alleleid]", "alleleId": 2841963, "preferredName": "NM_000249.4(MLH1):c.378C>A (p.Tyr126Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2674477", "RCV": [ "RCV003452672" ], "variationId": 2674477 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.37045963C>A?assembly=hg19", "id": "chr3:g.37045963C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.37004472C>A?assembly=hg38", "id": "chr3:g.37004472C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/63751606", "rs": 63751606 } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 37004472, "referenceAllele": "C", "start": 37004471 } ], "hgvs": [ "NC_000003.12:g.37004472C>A", "CM000665.2:g.37004472C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 37045963, "referenceAllele": "C", "start": 37045962 } ], "hgvs": [ "NC_000003.11:g.37045963C>A", "CM000665.1:g.37045963C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 37020967, "referenceAllele": "C", "start": 37020966 } ], "hgvs": [ "NC_000003.10:g.37020967C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "A", "end": 16123, "referenceAllele": "C", "start": 16122 } ], "hgvs": [ "NG_007109.2:g.16123C>A", "LRG_216:g.16123C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000485" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 569, "referenceAllele": "C", "start": 568 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000413740.2:c.378C>A" ], "proteinEffect": { "hgvs": "ENSP00000416476.2:p.Tyr126Ter", "hgvsWellDefined": "ENSP00000416476.2:p.Tyr126_Lys612del" }, "referenceSequence": "http://reg.genome.network/refseq/RS914028" }, { "coordinates": [ { "allele": "A", "end": 396, "referenceAllele": "C", "start": 395 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000429117.6:c.84C>A" ], "proteinEffect": { "hgvs": "ENSP00000407019.2:p.Tyr28Ter", "hgvsWellDefined": "ENSP00000407019.2:p.Tyr28_Cys658delinsArgAlaSerTyrSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914050" }, { "coordinates": [ { "allele": "A", "end": 408, "referenceAllele": "C", "start": 407 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000450420.6:c.378C>A" ], "proteinEffect": { "hgvs": "ENSP00000393006.2:p.Tyr126Ter", "hgvsWellDefined": "ENSP00000393006.2:p.Tyr126_Glu520delinsArgAlaSerTyrSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914085" }, { "coordinates": [ { "allele": "A", "end": 408, "referenceAllele": "C", "start": 407 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000456676.7:c.378C>A" ], "proteinEffect": { "hgvs": "ENSP00000416687.3:p.Tyr126Ter", "hgvsWellDefined": "ENSP00000416687.3:p.Tyr126_Cys687delinsArgAlaSerTyrSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914097" }, { "coordinates": [ { "allele": "A", "end": 408, "referenceAllele": "C", "start": 407 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000458009.6:c.378C>A" ], "proteinEffect": { "hgvs": "ENSP00000411066.2:p.Tyr126Ter", "hgvsWellDefined": "ENSP00000411066.2:p.Tyr126_Val314delinsArgAlaSerTyrSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuArgLeuCysTyrGlnAspLeuLeuAlaProLeuGlyArgTrpLeuAsnProGlnGlnValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914099" }, { "coordinates": [ { "allele": "A", "end": 436, "referenceAllele": "C", "start": 435 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000492474.6:c.-346C>A" ], "proteinEffect": { "hgvs": "ENSP00000518393.1:n.-346C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914167" }, { "coordinates": [ { "allele": "A", "end": 454, "referenceAllele": "C", "start": 453 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000616768.6:c.378C>A" ], "proteinEffect": { "hgvs": "ENSP00000480669.3:p.Tyr126Ter", "hgvsWellDefined": "ENSP00000480669.3:p.Tyr126_Cys725delinsArgAlaSerTyrSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914365" }, { "coordinates": [ { "allele": "A", "end": 700, "referenceAllele": "C", "start": 699 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000673673.2:c.378C>A" ], "proteinEffect": { "hgvs": "ENSP00000500979.2:p.Tyr126Ter", "hgvsWellDefined": "ENSP00000500979.2:p.Tyr126_Cys701delinsArgAlaSerTyrSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914447" }, { "coordinates": [ { "allele": "A", "end": 408, "referenceAllele": "C", "start": 407 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000231790.8:c.378C>A" ], "proteinEffect": { "hgvs": "ENSP00000231790.3:p.Tyr126Ter", "hgvsWellDefined": "ENSP00000231790.3:p.Tyr126_Cys756delinsArgAlaSerTyrSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS740875", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000231790.8:c.378C>A" }, "RefSeq": { "hgvs": "NM_000249.4:c.378C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000231790.3:p.Tyr126Ter" }, "RefSeq": { "hgvs": "NP_000240.1:p.Tyr126Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 368, "referenceAllele": "C", "start": 367 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000413212.2:c.-346C>A" ], "proteinEffect": { "hgvs": "ENSP00000400844.2:n.-346C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS754523" }, { "coordinates": [ { "allele": "A", "end": 629, "referenceAllele": "C", "start": 628 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000432299.6:c.*458C>A" ], "proteinEffect": { "hgvs": 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"http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000673713.1:n.409C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773810" }, { "coordinates": [ { "allele": "A", "end": 403, "referenceAllele": "C", "start": 402 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000673715.1:c.378C>A" ], "proteinEffect": { "hgvs": "ENSP00000501301.1:p.Tyr126Ter", "hgvsWellDefined": "ENSP00000501301.1:p.Tyr126_Val633delinsArgAlaSerTyrSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773811" }, { "coordinates": [ { "allele": "A", "end": 304, "referenceAllele": "C", "start": 303 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000673897.1:c.*170C>A" ], "proteinEffect": { "hgvs": "ENSP00000501109.1:n.*170C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773953" }, { "coordinates": [ { "allele": "A", "end": 437, "referenceAllele": "C", "start": 436 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000673899.1:c.378C>A" ], "proteinEffect": { "hgvs": "ENSP00000501030.1:p.Tyr126Ter", "hgvsWellDefined": "ENSP00000501030.1:p.Tyr126_Cys512delinsArgAlaSerTyrSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773955" }, { "coordinates": [ { "allele": "A", "end": 644, "referenceAllele": "C", "start": 643 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000673947.1:c.*518C>A" ], "proteinEffect": { "hgvs": "ENSP00000501304.1:n.*518C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773999" }, { "coordinates": [ { "allele": "A", "end": 406, "referenceAllele": "C", "start": 405 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000673972.1:c.*256C>A" ], "proteinEffect": { "hgvs": "ENSP00000501281.1:n.*256C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS774014" }, { "coordinates": [ { "allele": "A", "end": 363, "referenceAllele": "C", "start": 362 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000673990.1:n.363C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS774028" }, { "coordinates": [ { "allele": "A", "end": 513, "referenceAllele": "C", "start": 512 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000674019.1:c.-346C>A" ], "proteinEffect": { "hgvs": "ENSP00000501081.1:n.-346C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS774050" }, { "coordinates": [ { "allele": "A", "end": 320, "referenceAllele": "C", "start": 319 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000674107.1:n.320C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS774126" }, { "coordinates": [ { "allele": "A", "end": 431, "referenceAllele": "C", "start": 430 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000674111.1:c.378C>A" ], "proteinEffect": { "hgvs": "ENSP00000501162.1:p.Tyr126Ter", "hgvsWellDefined": "ENSP00000501162.1:p.Tyr126_Pro568delinsArgAlaSerTyrSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuArgSerGlnHisArgSerLeuThrLeuProCysLeuProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774130" }, { "coordinates": [ { "allele": "A", "end": 594, "referenceAllele": "C", "start": 593 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000231790.6:c.378C>A" ], "proteinEffect": { "hgvs": "ENSP00000231790.2:p.Tyr126Ter", "hgvsWellDefined": "ENSP00000231790.2:p.Tyr126_Cys756delinsArgAlaSerTyrSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS246728" }, { "coordinates": [ { "allele": "A", "end": 396, "referenceAllele": "C", "start": 395 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000429117.5:c.84C>A" ], "proteinEffect": { "hgvs": "ENSP00000407019.1:p.Tyr28Ter", "hgvsWellDefined": "ENSP00000407019.1:p.Tyr28Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS247399" }, { "coordinates": [ { "allele": "A", "end": 629, "referenceAllele": "C", "start": 628 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000432299.5:c.*458C>A" ], "proteinEffect": { "hgvs": "ENSP00000416783.1:n.*458C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS292022" }, { "coordinates": [ { "allele": "A", "end": 344, "referenceAllele": "C", "start": 343 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, 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"start": 565 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354620.1:c.84C>A" ], "proteinEffect": { "hgvs": "NP_001341549.1:p.Tyr28Ter", "hgvsWellDefined": "NP_001341549.1:p.Tyr28_Cys658delinsArgAlaSerTyrSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522561" }, { "coordinates": [ { "allele": "A", "end": 803, "referenceAllele": "C", "start": 802 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354621.1:c.-439C>A" ], "proteinEffect": { "hgvs": "NP_001341550.1:n.-439C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522562" }, { "coordinates": [ { "allele": "A", "end": 803, "referenceAllele": "C", "start": 802 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354622.1:c.-552C>A" ], "proteinEffect": { "hgvs": "NP_001341551.1:n.-552C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522563" }, { "coordinates": [ { "allele": "A", "end": 712, "referenceAllele": "C", "start": 711 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354623.1:c.-552C>A" ], "proteinEffect": { "hgvs": "NP_001341552.1:n.-552C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522564" }, { "coordinates": [ { "allele": "A", "end": 576, "referenceAllele": "C", "start": 575 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354624.1:c.-449C>A" ], "proteinEffect": { "hgvs": "NP_001341553.1:n.-449C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522565" }, { "coordinates": [ { "allele": "A", "end": 566, "referenceAllele": "C", "start": 565 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354625.1:c.-357C>A" ], "proteinEffect": { "hgvs": "NP_001341554.1:n.-357C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522566" }, { "coordinates": [ { "allele": "A", "end": 571, "referenceAllele": "C", "start": 570 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354626.1:c.-449C>A" ], "proteinEffect": { "hgvs": "NP_001341555.1:n.-449C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522567" }, { "coordinates": [ { "allele": "A", "end": 803, "referenceAllele": "C", "start": 802 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354627.1:c.-449C>A" ], "proteinEffect": { "hgvs": "NP_001341556.1:n.-449C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522568" }, { "@id": "http://reg.genome.network/allele/PA2827906428", "coordinates": [ { "allele": "A", "end": 576, "referenceAllele": "C", "start": 575 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354628.1:c.378C>A" ], "proteinEffect": { "hgvs": "NP_001341557.1:p.Tyr126Ter", "hgvsWellDefined": "NP_001341557.1:p.Tyr126_Cys725delinsArgAlaSerTyrSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522569" }, { "@id": "http://reg.genome.network/allele/PA916038516", "coordinates": [ { "allele": "A", "end": 477, "referenceAllele": "C", "start": 476 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354629.1:c.279C>A" ], "proteinEffect": { "hgvs": "NP_001341558.1:p.Tyr93Ter", "hgvsWellDefined": "NP_001341558.1:p.Tyr93_Cys723delinsArgAlaSerTyrSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522570" }, { "@id": "http://reg.genome.network/allele/PA2827911182", "coordinates": [ { "allele": "A", "end": 576, "referenceAllele": "C", "start": 575 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354630.1:c.378C>A" ], "proteinEffect": { "hgvs": "NP_001341559.1:p.Tyr126Ter", "hgvsWellDefined": "NP_001341559.1:p.Tyr126_Cys701delinsArgAlaSerTyrSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522571" }, { "coordinates": [ { "allele": "A", "end": 439, "referenceAllele": "C", "start": 438 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "XM_005265161.2:c.378C>A" ], "proteinEffect": { "hgvs": "XP_005265218.1:p.Tyr126Ter", "hgvsWellDefined": "XP_005265218.1:p.Tyr126_Cys687delinsArgAlaSerTyrSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536007" }, { "coordinates": [ { "allele": "A", "end": 415, "referenceAllele": "C", "start": 414 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "XM_017006450.2:c.-439C>A" ], "proteinEffect": { "hgvs": "XP_016861939.1:n.-439C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS561484" }, { "@id": "http://reg.genome.network/allele/PA331025", "coordinates": [ { "allele": "A", "end": 408, "referenceAllele": "C", "start": 407 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_000249.4:c.378C>A" ], "proteinEffect": { "hgvs": "NP_000240.1:p.Tyr126Ter", "hgvsWellDefined": "NP_000240.1:p.Tyr126_Cys756delinsArgAlaSerTyrSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674761", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000231790.8:c.378C>A" }, "RefSeq": { "hgvs": "NM_000249.4:c.378C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000231790.3:p.Tyr126Ter" }, "RefSeq": { "hgvs": "NP_000240.1:p.Tyr126Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826037444", "coordinates": [ { "allele": "A", "end": 630, "referenceAllele": "C", "start": 629 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167617.3:c.84C>A" ], "proteinEffect": { "hgvs": "NP_001161089.1:p.Tyr28Ter", "hgvsWellDefined": "NP_001161089.1:p.Tyr28_Cys658delinsArgAlaSerTyrSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713242" }, { "coordinates": [ { "allele": "A", "end": 630, "referenceAllele": "C", "start": 629 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167618.3:c.-346C>A" ], "proteinEffect": { "hgvs": "NP_001161090.1:n.-346C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS713243" }, { "coordinates": [ { "allele": "A", "end": 635, "referenceAllele": "C", "start": 634 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167619.3:c.-254C>A" ], "proteinEffect": { "hgvs": "NP_001161091.1:n.-254C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS713244" }, { "@id": "http://reg.genome.network/allele/PA2826456913", "coordinates": [ { "allele": "A", "end": 408, "referenceAllele": "C", "start": 407 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001258271.2:c.378C>A" ], "proteinEffect": { "hgvs": "NP_001245200.1:p.Tyr126Ter", "hgvsWellDefined": "NP_001245200.1:p.Tyr126_Cys687delinsArgAlaSerTyrSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714924" }, { "coordinates": [ { "allele": "A", "end": 317, "referenceAllele": "C", "start": 316 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001258273.2:c.-346C>A" ], "proteinEffect": { "hgvs": "NP_001245202.1:n.-346C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS714925" }, { "coordinates": [ { "allele": "A", "end": 780, "referenceAllele": "C", "start": 779 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001258274.3:c.-346C>A" ], "proteinEffect": { "hgvs": "NP_001245203.1:n.-346C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS714926" }, { "coordinates": [ { "allele": "A", "end": 403, "referenceAllele": "C", "start": 402 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354615.2:c.-254C>A" ], "proteinEffect": { "hgvs": "NP_001341544.1:n.-254C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720517" }, { "coordinates": [ { "allele": "A", "end": 403, "referenceAllele": "C", "start": 402 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354616.2:c.-254C>A" ], "proteinEffect": { "hgvs": "NP_001341545.1:n.-254C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720518" }, { "coordinates": [ { "allele": "A", "end": 403, "referenceAllele": "C", "start": 402 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354617.2:c.-346C>A" ], "proteinEffect": { "hgvs": "NP_001341546.1:n.-346C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720519" }, { "coordinates": [ { "allele": "A", "end": 635, "referenceAllele": "C", "start": 634 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354618.2:c.-346C>A" ], "proteinEffect": { "hgvs": "NP_001341547.1:n.-346C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720520" }, { "coordinates": [ { "allele": "A", "end": 759, "referenceAllele": "C", "start": 758 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354619.2:c.-346C>A" ], "proteinEffect": { "hgvs": "NP_001341548.1:n.-346C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720521" }, { "@id": "http://reg.genome.network/allele/PA2827893989", "coordinates": [ { "allele": "A", "end": 398, "referenceAllele": "C", "start": 397 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354620.2:c.84C>A" ], "proteinEffect": { "hgvs": "NP_001341549.1:p.Tyr28Ter", "hgvsWellDefined": "NP_001341549.1:p.Tyr28_Cys658delinsArgAlaSerTyrSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720522" }, { "coordinates": [ { "allele": "A", "end": 635, "referenceAllele": "C", "start": 634 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354621.2:c.-439C>A" ], "proteinEffect": { "hgvs": "NP_001341550.1:n.-439C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720523" }, { "coordinates": [ { "allele": "A", "end": 635, "referenceAllele": "C", "start": 634 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354622.2:c.-552C>A" ], "proteinEffect": { "hgvs": "NP_001341551.1:n.-552C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720524" }, { "coordinates": [ { "allele": "A", "end": 544, "referenceAllele": "C", "start": 543 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354623.2:c.-552C>A" ], "proteinEffect": { "hgvs": "NP_001341552.1:n.-552C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720525" }, { "coordinates": [ { "allele": "A", "end": 408, "referenceAllele": "C", "start": 407 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354624.2:c.-449C>A" ], "proteinEffect": { "hgvs": "NP_001341553.1:n.-449C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720526" }, { "coordinates": [ { "allele": "A", "end": 398, "referenceAllele": "C", "start": 397 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354625.2:c.-357C>A" ], "proteinEffect": { "hgvs": "NP_001341554.1:n.-357C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720527" }, { "coordinates": [ { "allele": "A", "end": 403, "referenceAllele": "C", "start": 402 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354626.2:c.-449C>A" ], "proteinEffect": { "hgvs": "NP_001341555.1:n.-449C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720528" }, { "coordinates": [ { "allele": "A", "end": 635, "referenceAllele": "C", "start": 634 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354627.2:c.-449C>A" ], "proteinEffect": { "hgvs": "NP_001341556.1:n.-449C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720529" }, { "@id": "http://reg.genome.network/allele/PA2827906428", "coordinates": [ { "allele": "A", "end": 408, "referenceAllele": "C", "start": 407 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354628.2:c.378C>A" ], "proteinEffect": { "hgvs": "NP_001341557.1:p.Tyr126Ter", "hgvsWellDefined": "NP_001341557.1:p.Tyr126_Cys725delinsArgAlaSerTyrSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720530" }, { "@id": "http://reg.genome.network/allele/PA916038516", "coordinates": [ { "allele": "A", "end": 309, "referenceAllele": "C", "start": 308 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354629.2:c.279C>A" ], "proteinEffect": { "hgvs": "NP_001341558.1:p.Tyr93Ter", "hgvsWellDefined": "NP_001341558.1:p.Tyr93_Cys723delinsArgAlaSerTyrSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720531" }, { "@id": "http://reg.genome.network/allele/PA2827911182", "coordinates": [ { "allele": "A", "end": 408, "referenceAllele": "C", "start": 407 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354630.2:c.378C>A" ], "proteinEffect": { "hgvs": "NP_001341559.1:p.Tyr126Ter", "hgvsWellDefined": "NP_001341559.1:p.Tyr126_Cys701delinsArgAlaSerTyrSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720532" } ], "type": "nucleotide" }