{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA352038999", "communityStandardTitle": [ "NM_000249.4(MLH1):c.390C>A (p.Tyr130Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1787246[alleleid]", "alleleId": 1787246, "preferredName": "NM_000249.4(MLH1):c.390C>A (p.Tyr130Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1736087", "RCV": [ "RCV002357500" ], "variationId": 1736087 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.37048491C>A?assembly=hg19", "id": "chr3:g.37048491C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.37007000C>A?assembly=hg38", "id": "chr3:g.37007000C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1060500689", "rs": 1060500689 } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 37007000, "referenceAllele": "C", "start": 37006999 } ], "hgvs": [ "NC_000003.12:g.37007000C>A", "CM000665.2:g.37007000C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 37048491, "referenceAllele": "C", "start": 37048490 } ], "hgvs": [ "NC_000003.11:g.37048491C>A", "CM000665.1:g.37048491C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 37023495, "referenceAllele": "C", "start": 37023494 } ], "hgvs": [ "NC_000003.10:g.37023495C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "A", "end": 18651, "referenceAllele": "C", "start": 18650 } ], "hgvs": [ "NG_007109.2:g.18651C>A", "LRG_216:g.18651C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000485" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 581, "referenceAllele": "C", "start": 580 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000413740.2:c.390C>A" ], "proteinEffect": { "hgvs": "ENSP00000416476.2:p.Tyr130Ter", "hgvsWellDefined": "ENSP00000416476.2:p.Tyr130_Lys612del" }, "referenceSequence": "http://reg.genome.network/refseq/RS914028" }, { "coordinates": [ { "allele": "A", "end": 408, "referenceAllele": "C", "start": 407 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000429117.6:c.96C>A" ], "proteinEffect": { "hgvs": "ENSP00000407019.2:p.Tyr32Ter", "hgvsWellDefined": "ENSP00000407019.2:p.Tyr32_Cys658delinsSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914050" }, { "coordinates": [ { "allele": "A", "end": 420, "referenceAllele": "C", "start": 419 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000450420.6:c.390C>A" ], "proteinEffect": { "hgvs": "ENSP00000393006.2:p.Tyr130Ter", "hgvsWellDefined": "ENSP00000393006.2:p.Tyr130_Glu520delinsSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914085" }, { "coordinates": [ { "allele": "A", "end": 420, "referenceAllele": "C", "start": 419 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000456676.7:c.390C>A" ], "proteinEffect": { "hgvs": "ENSP00000416687.3:p.Tyr130Ter", "hgvsWellDefined": "ENSP00000416687.3:p.Tyr130_Cys687delinsSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914097" }, { "coordinates": [ { "allele": "A", "end": 420, "referenceAllele": "C", "start": 419 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000458009.6:c.390C>A" ], "proteinEffect": { "hgvs": "ENSP00000411066.2:p.Tyr130Ter", "hgvsWellDefined": "ENSP00000411066.2:p.Tyr130_Val314delinsSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuArgLeuCysTyrGlnAspLeuLeuAlaProLeuGlyArgTrpLeuAsnProGlnGlnValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914099" }, { "coordinates": [ { "allele": "A", "end": 448, "referenceAllele": "C", "start": 447 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000492474.6:c.-334C>A" ], "proteinEffect": { "hgvs": "ENSP00000518393.1:n.-334C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914167" }, { "coordinates": [ { "allele": "A", "end": 466, "referenceAllele": "C", "start": 465 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000616768.6:c.390C>A" ], "proteinEffect": { "hgvs": "ENSP00000480669.3:p.Tyr130Ter", "hgvsWellDefined": "ENSP00000480669.3:p.Tyr130_Cys725delinsSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914365" }, { "coordinates": [ { "allele": "A", "end": 712, "referenceAllele": "C", "start": 711 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000673673.2:c.390C>A" ], "proteinEffect": { "hgvs": "ENSP00000500979.2:p.Tyr130Ter", "hgvsWellDefined": "ENSP00000500979.2:p.Tyr130_Cys701delinsSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914447" }, { "coordinates": [ { "allele": "A", "end": 420, "referenceAllele": "C", "start": 419 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000231790.8:c.390C>A" ], "proteinEffect": { "hgvs": "ENSP00000231790.3:p.Tyr130Ter", "hgvsWellDefined": "ENSP00000231790.3:p.Tyr130_Cys756delinsSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS740875", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000231790.8:c.390C>A" }, "RefSeq": { "hgvs": "NM_000249.4:c.390C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000231790.3:p.Tyr130Ter" }, "RefSeq": { "hgvs": "NP_000240.1:p.Tyr130Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 380, "referenceAllele": "C", "start": 379 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000413212.2:c.-334C>A" ], "proteinEffect": { "hgvs": "ENSP00000400844.2:n.-334C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS754523" }, { "coordinates": [ { "allele": "A", "end": 641, "referenceAllele": "C", "start": 640 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000432299.6:c.*470C>A" ], "proteinEffect": { "hgvs": "ENSP00000416783.1:n.*470C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS755407" }, { "coordinates": [ { "allele": "A", "end": 486, "referenceAllele": "C", "start": 485 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000441265.6:c.-334C>A" ], "proteinEffect": { "hgvs": "ENSP00000398392.2:n.-334C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS755839" }, { "coordinates": [ { "allele": "A", "end": 405, "referenceAllele": "C", "start": 404 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000442249.6:n.405C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS755895" }, { "coordinates": [ { "allele": "A", "end": 306, "referenceAllele": "C", "start": 305 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000447829.6:c.27C>A" ], "proteinEffect": { "hgvs": "ENSP00000399329.2:p.Tyr9Ter", "hgvsWellDefined": "ENSP00000399329.2:p.Tyr9_Leu143delinsSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS756143" }, { "coordinates": [ { "allele": "A", "end": 361, "referenceAllele": "C", "start": 360 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000539477.6:c.-242C>A" ], "proteinEffect": { "hgvs": "ENSP00000443665.1:n.-242C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS759598" }, { "coordinates": [ { "allele": "A", "end": 343, "referenceAllele": "C", "start": 342 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000673673.1:c.343C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773774" }, { "coordinates": [ { "allele": "A", "end": 421, "referenceAllele": "C", "start": 420 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000673713.1:n.421C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773810" }, { "coordinates": [ { "allele": "A", "end": 415, "referenceAllele": "C", "start": 414 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000673715.1:c.390C>A" ], "proteinEffect": { "hgvs": "ENSP00000501301.1:p.Tyr130Ter", "hgvsWellDefined": "ENSP00000501301.1:p.Tyr130_Val633delinsSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773811" }, { "coordinates": [ { "allele": "A", "end": 316, "referenceAllele": "C", "start": 315 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000673897.1:c.*182C>A" ], "proteinEffect": { "hgvs": "ENSP00000501109.1:n.*182C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773953" }, { "coordinates": [ { "allele": "A", "end": 449, "referenceAllele": "C", "start": 448 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000673899.1:c.390C>A" ], "proteinEffect": { "hgvs": "ENSP00000501030.1:p.Tyr130Ter", "hgvsWellDefined": "ENSP00000501030.1:p.Tyr130_Cys512delinsSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773955" }, { "coordinates": [ { "allele": "A", "end": 656, "referenceAllele": "C", "start": 655 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000673947.1:c.*530C>A" ], "proteinEffect": { "hgvs": "ENSP00000501304.1:n.*530C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773999" }, { "coordinates": [ { "allele": "A", "end": 418, "referenceAllele": "C", "start": 417 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000673972.1:c.*268C>A" ], "proteinEffect": { "hgvs": "ENSP00000501281.1:n.*268C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS774014" }, { "coordinates": [ { "allele": "A", "end": 375, "referenceAllele": "C", "start": 374 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000673990.1:n.375C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS774028" }, { "coordinates": [ { "allele": "A", "end": 525, "referenceAllele": "C", "start": 524 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000674019.1:c.-334C>A" ], "proteinEffect": { "hgvs": "ENSP00000501081.1:n.-334C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS774050" }, { "coordinates": [ { "allele": "A", "end": 332, "referenceAllele": "C", "start": 331 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000674107.1:n.332C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS774126" }, { "coordinates": [ { "allele": "A", "end": 443, "referenceAllele": "C", "start": 442 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000674111.1:c.390C>A" ], "proteinEffect": { "hgvs": "ENSP00000501162.1:p.Tyr130Ter", "hgvsWellDefined": "ENSP00000501162.1:p.Tyr130_Pro568delinsSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuArgSerGlnHisArgSerLeuThrLeuProCysLeuProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774130" }, { "coordinates": [ { "allele": "A", "end": 606, "referenceAllele": "C", "start": 605 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000231790.6:c.390C>A" ], "proteinEffect": { "hgvs": "ENSP00000231790.2:p.Tyr130Ter", "hgvsWellDefined": "ENSP00000231790.2:p.Tyr130_Cys756delinsSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS246728" }, { "coordinates": [ { "allele": "A", "end": 408, "referenceAllele": "C", "start": 407 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000429117.5:c.96C>A" ], "proteinEffect": { "hgvs": "ENSP00000407019.1:p.Tyr32Ter", "hgvsWellDefined": "ENSP00000407019.1:p.Tyr32Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS247399" }, { "coordinates": [ { "allele": "A", "end": 641, "referenceAllele": "C", "start": 640 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000432299.5:c.*470C>A" ], "proteinEffect": { "hgvs": "ENSP00000416783.1:n.*470C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS292022" }, { "coordinates": [ { "allele": "A", "end": 356, "referenceAllele": "C", "start": 355 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, 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"ENSP00000402564.1:p.Tyr32_Cys658delinsSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" 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"MLH1", "hgvs": [ "NM_001354617.1:c.-334C>A" ], "proteinEffect": { "hgvs": "NP_001341546.1:n.-334C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522558" }, { "coordinates": [ { "allele": "A", "end": 815, "referenceAllele": "C", "start": 814 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354618.1:c.-334C>A" ], "proteinEffect": { "hgvs": "NP_001341547.1:n.-334C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522559" }, { "coordinates": [ { "allele": "A", "end": 939, "referenceAllele": "C", "start": 938 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354619.1:c.-334C>A" ], "proteinEffect": { "hgvs": "NP_001341548.1:n.-334C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522560" }, { "@id": "http://reg.genome.network/allele/PA2827894007", "coordinates": [ { "allele": "A", "end": 578, "referenceAllele": "C", 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"NP_001341549.1:p.Tyr32_Cys658delinsSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522561" }, { "coordinates": [ { "allele": "A", "end": 815, "referenceAllele": "C", "start": 814 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354621.1:c.-427C>A" ], "proteinEffect": { "hgvs": "NP_001341550.1:n.-427C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522562" }, { "coordinates": [ { "allele": "A", "end": 815, "referenceAllele": "C", "start": 814 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354622.1:c.-540C>A" ], "proteinEffect": { "hgvs": "NP_001341551.1:n.-540C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522563" }, { "coordinates": [ { "allele": "A", "end": 724, "referenceAllele": "C", "start": 723 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354623.1:c.-540C>A" ], "proteinEffect": { "hgvs": "NP_001341552.1:n.-540C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522564" }, { "coordinates": [ { "allele": "A", "end": 588, "referenceAllele": "C", "start": 587 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354624.1:c.-437C>A" ], "proteinEffect": { "hgvs": "NP_001341553.1:n.-437C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522565" }, { "coordinates": [ { "allele": "A", "end": 578, "referenceAllele": "C", "start": 577 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354625.1:c.-345C>A" ], "proteinEffect": { "hgvs": "NP_001341554.1:n.-345C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522566" }, { "coordinates": [ { "allele": "A", "end": 583, "referenceAllele": "C", "start": 582 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354626.1:c.-437C>A" ], "proteinEffect": { "hgvs": "NP_001341555.1:n.-437C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522567" }, { "coordinates": [ { "allele": "A", "end": 815, "referenceAllele": "C", "start": 814 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354627.1:c.-437C>A" ], "proteinEffect": { "hgvs": "NP_001341556.1:n.-437C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522568" }, { "@id": "http://reg.genome.network/allele/PA2827906448", "coordinates": [ { "allele": "A", "end": 588, "referenceAllele": "C", "start": 587 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354628.1:c.390C>A" ], "proteinEffect": { "hgvs": "NP_001341557.1:p.Tyr130Ter", "hgvsWellDefined": "NP_001341557.1:p.Tyr130_Cys725delinsSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522569" }, { "@id": "http://reg.genome.network/allele/PA916038526", "coordinates": [ { "allele": "A", "end": 489, "referenceAllele": "C", "start": 488 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354629.1:c.291C>A" ], "proteinEffect": { "hgvs": "NP_001341558.1:p.Tyr97Ter", "hgvsWellDefined": "NP_001341558.1:p.Tyr97_Cys723delinsSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522570" }, { "@id": "http://reg.genome.network/allele/PA2827911203", "coordinates": [ { "allele": "A", "end": 588, "referenceAllele": "C", "start": 587 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354630.1:c.390C>A" ], "proteinEffect": { "hgvs": "NP_001341559.1:p.Tyr130Ter", "hgvsWellDefined": "NP_001341559.1:p.Tyr130_Cys701delinsSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522571" }, { "coordinates": [ { "allele": "A", "end": 451, "referenceAllele": "C", "start": 450 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "XM_005265161.2:c.390C>A" ], "proteinEffect": { "hgvs": "XP_005265218.1:p.Tyr130Ter", "hgvsWellDefined": "XP_005265218.1:p.Tyr130_Cys687delinsSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536007" }, { "coordinates": [ { "allele": "A", "end": 427, "referenceAllele": "C", "start": 426 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "XM_017006450.2:c.-427C>A" ], "proteinEffect": { "hgvs": "XP_016861939.1:n.-427C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS561484" }, { "@id": "http://reg.genome.network/allele/PA645416930", "coordinates": [ { "allele": "A", "end": 420, "referenceAllele": "C", "start": 419 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_000249.4:c.390C>A" ], "proteinEffect": { "hgvs": "NP_000240.1:p.Tyr130Ter", "hgvsWellDefined": "NP_000240.1:p.Tyr130_Cys756delinsSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674761", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000231790.8:c.390C>A" }, "RefSeq": { "hgvs": "NM_000249.4:c.390C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000231790.3:p.Tyr130Ter" }, "RefSeq": { "hgvs": "NP_000240.1:p.Tyr130Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826037463", "coordinates": [ { "allele": "A", "end": 642, "referenceAllele": "C", "start": 641 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167617.3:c.96C>A" ], "proteinEffect": { "hgvs": "NP_001161089.1:p.Tyr32Ter", "hgvsWellDefined": "NP_001161089.1:p.Tyr32_Cys658delinsSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713242" }, { "coordinates": [ { "allele": "A", "end": 642, "referenceAllele": "C", "start": 641 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167618.3:c.-334C>A" ], "proteinEffect": { "hgvs": "NP_001161090.1:n.-334C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS713243" }, { "coordinates": [ { "allele": "A", "end": 647, "referenceAllele": "C", "start": 646 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167619.3:c.-242C>A" ], "proteinEffect": { "hgvs": "NP_001161091.1:n.-242C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS713244" }, { "@id": "http://reg.genome.network/allele/PA2826456930", "coordinates": [ { "allele": "A", "end": 420, "referenceAllele": "C", "start": 419 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001258271.2:c.390C>A" ], "proteinEffect": { "hgvs": "NP_001245200.1:p.Tyr130Ter", "hgvsWellDefined": "NP_001245200.1:p.Tyr130_Cys687delinsSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714924" }, { "coordinates": [ { "allele": "A", "end": 329, "referenceAllele": "C", "start": 328 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001258273.2:c.-334C>A" ], "proteinEffect": { "hgvs": "NP_001245202.1:n.-334C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS714925" }, { "coordinates": [ { "allele": "A", "end": 792, "referenceAllele": "C", "start": 791 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001258274.3:c.-334C>A" ], "proteinEffect": { "hgvs": "NP_001245203.1:n.-334C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS714926" }, { "coordinates": [ { "allele": "A", "end": 415, "referenceAllele": "C", "start": 414 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354615.2:c.-242C>A" ], "proteinEffect": { "hgvs": "NP_001341544.1:n.-242C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720517" }, { "coordinates": [ { "allele": "A", "end": 415, "referenceAllele": "C", "start": 414 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354616.2:c.-242C>A" ], "proteinEffect": { "hgvs": "NP_001341545.1:n.-242C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720518" }, { "coordinates": [ { "allele": "A", "end": 415, "referenceAllele": "C", "start": 414 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354617.2:c.-334C>A" ], "proteinEffect": { "hgvs": "NP_001341546.1:n.-334C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720519" }, { "coordinates": [ { "allele": "A", "end": 647, "referenceAllele": "C", "start": 646 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354618.2:c.-334C>A" ], "proteinEffect": { "hgvs": "NP_001341547.1:n.-334C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720520" }, { "coordinates": [ { "allele": "A", "end": 771, "referenceAllele": "C", "start": 770 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354619.2:c.-334C>A" ], "proteinEffect": { "hgvs": "NP_001341548.1:n.-334C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720521" }, { "@id": "http://reg.genome.network/allele/PA2827894007", "coordinates": [ { "allele": "A", "end": 410, "referenceAllele": "C", "start": 409 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354620.2:c.96C>A" ], "proteinEffect": { "hgvs": "NP_001341549.1:p.Tyr32Ter", "hgvsWellDefined": "NP_001341549.1:p.Tyr32_Cys658delinsSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720522" }, { "coordinates": [ { "allele": "A", "end": 647, "referenceAllele": "C", "start": 646 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354621.2:c.-427C>A" ], "proteinEffect": { "hgvs": "NP_001341550.1:n.-427C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720523" }, { "coordinates": [ { "allele": "A", "end": 647, "referenceAllele": "C", "start": 646 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354622.2:c.-540C>A" ], "proteinEffect": { "hgvs": "NP_001341551.1:n.-540C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720524" }, { "coordinates": [ { "allele": "A", "end": 556, "referenceAllele": "C", "start": 555 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354623.2:c.-540C>A" ], "proteinEffect": { "hgvs": "NP_001341552.1:n.-540C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720525" }, { "coordinates": [ { "allele": "A", "end": 420, "referenceAllele": "C", "start": 419 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354624.2:c.-437C>A" ], "proteinEffect": { "hgvs": "NP_001341553.1:n.-437C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720526" }, { "coordinates": [ { "allele": "A", "end": 410, "referenceAllele": "C", "start": 409 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354625.2:c.-345C>A" ], "proteinEffect": { "hgvs": "NP_001341554.1:n.-345C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720527" }, { "coordinates": [ { "allele": "A", "end": 415, "referenceAllele": "C", "start": 414 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354626.2:c.-437C>A" ], "proteinEffect": { "hgvs": "NP_001341555.1:n.-437C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720528" }, { "coordinates": [ { "allele": "A", "end": 647, "referenceAllele": "C", "start": 646 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354627.2:c.-437C>A" ], "proteinEffect": { "hgvs": "NP_001341556.1:n.-437C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720529" }, { "@id": "http://reg.genome.network/allele/PA2827906448", "coordinates": [ { "allele": "A", "end": 420, "referenceAllele": "C", "start": 419 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354628.2:c.390C>A" ], "proteinEffect": { "hgvs": "NP_001341557.1:p.Tyr130Ter", "hgvsWellDefined": "NP_001341557.1:p.Tyr130_Cys725delinsSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720530" }, { "@id": "http://reg.genome.network/allele/PA916038526", "coordinates": [ { "allele": "A", "end": 321, "referenceAllele": "C", "start": 320 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354629.2:c.291C>A" ], "proteinEffect": { "hgvs": "NP_001341558.1:p.Tyr97Ter", "hgvsWellDefined": "NP_001341558.1:p.Tyr97_Cys723delinsSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720531" }, { "@id": "http://reg.genome.network/allele/PA2827911203", "coordinates": [ { "allele": "A", "end": 420, "referenceAllele": "C", "start": 419 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354630.2:c.390C>A" ], "proteinEffect": { "hgvs": "NP_001341559.1:p.Tyr130Ter", "hgvsWellDefined": "NP_001341559.1:p.Tyr130_Cys701delinsSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720532" } ], "type": "nucleotide" }