{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA352044162", "communityStandardTitle": [ "NM_000249.4(MLH1):c.755C>G (p.Ser252Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1309064", "active": true, "id": "COSM1309064" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=807560[alleleid]", "alleleId": 807560, "preferredName": "NM_000249.4(MLH1):c.755C>G (p.Ser252Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/827123", "RCV": [ "RCV001026562", "RCV003455137", "RCV003594086" ], "variationId": 827123 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.37056000C>G?assembly=hg19", "id": "chr3:g.37056000C>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.37014509C>G?assembly=hg38", "id": "chr3:g.37014509C>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/63750198", "rs": 63750198 } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "G", "end": 37014509, "referenceAllele": "C", "start": 37014508 } ], "hgvs": [ "NC_000003.12:g.37014509C>G", "CM000665.2:g.37014509C>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "G", "end": 37056000, "referenceAllele": "C", "start": 37055999 } ], "hgvs": [ "NC_000003.11:g.37056000C>G", "CM000665.1:g.37056000C>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "G", "end": 37031004, "referenceAllele": "C", "start": 37031003 } ], "hgvs": [ "NC_000003.10:g.37031004C>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "G", "end": 26160, "referenceAllele": "C", "start": 26159 } ], "hgvs": [ "NG_007109.2:g.26160C>G", "LRG_216:g.26160C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS000485" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 946, "referenceAllele": "C", "start": 945 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000413740.2:c.755C>G" ], "proteinEffect": { "hgvs": "ENSP00000416476.2:p.Ser252Ter", "hgvsWellDefined": "ENSP00000416476.2:p.Ser252_Lys612del" }, "referenceSequence": "http://reg.genome.network/refseq/RS914028" }, { "coordinates": [ { "allele": "G", "end": 773, "referenceAllele": "C", "start": 772 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000429117.6:c.461C>G" ], "proteinEffect": { "hgvs": "ENSP00000407019.2:p.Ser154Ter", "hgvsWellDefined": "ENSP00000407019.2:p.Ser154_Cys658delinsValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914050" }, { "coordinates": [ { "allele": "G", "end": 785, "referenceAllele": "C", "start": 784 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000450420.6:c.755C>G" ], "proteinEffect": { "hgvs": "ENSP00000393006.2:p.Ser252Ter", "hgvsWellDefined": "ENSP00000393006.2:p.Ser252_Glu520delinsValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914085" }, { "coordinates": [ { "allele": "G", "end": 785, "referenceAllele": "C", "start": 784 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000456676.7:c.755C>G" ], "proteinEffect": { "hgvs": "ENSP00000416687.3:p.Ser252Ter", "hgvsWellDefined": "ENSP00000416687.3:p.Ser252_Cys687delinsValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914097" }, { "coordinates": [ { "allele": "G", "end": 785, "referenceAllele": "C", "start": 784 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000458009.6:c.755C>G" ], "proteinEffect": { "hgvs": "ENSP00000411066.2:p.Ser252Ter", "hgvsWellDefined": "ENSP00000411066.2:p.Ser252_Val314delinsValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuArgLeuCysTyrGlnAspLeuLeuAlaProLeuGlyArgTrpLeuAsnProGlnGlnValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914099" }, { "coordinates": [ { "allele": "G", "end": 813, "referenceAllele": "C", "start": 812 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000492474.6:c.32C>G" ], "proteinEffect": { "hgvs": "ENSP00000518393.1:p.Ser11Ter", "hgvsWellDefined": "ENSP00000518393.1:p.Ser11_Cys515delinsValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914167" }, { "coordinates": [ { "allele": "G", "end": 831, "referenceAllele": "C", "start": 830 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000616768.6:c.755C>G" ], "proteinEffect": { "hgvs": "ENSP00000480669.3:p.Ser252Ter", "hgvsWellDefined": "ENSP00000480669.3:p.Ser252_Cys725delinsValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914365" }, { "coordinates": [ { "allele": "G", "end": 1077, "referenceAllele": "C", "start": 1076 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000673673.2:c.755C>G" ], "proteinEffect": { "hgvs": "ENSP00000500979.2:p.Ser252Ter", "hgvsWellDefined": "ENSP00000500979.2:p.Ser252_Cys701delinsValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914447" }, { "coordinates": [ { "allele": "G", "end": 785, "referenceAllele": "C", "start": 784 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000231790.8:c.755C>G" ], "proteinEffect": { "hgvs": "ENSP00000231790.3:p.Ser252Ter", "hgvsWellDefined": "ENSP00000231790.3:p.Ser252_Cys756delinsValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS740875", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000231790.8:c.755C>G" }, "RefSeq": { "hgvs": "NM_000249.4:c.755C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000231790.3:p.Ser252Ter" }, "RefSeq": { "hgvs": "NP_000240.1:p.Ser252Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 745, "referenceAllele": "C", "start": 744 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000413212.2:c.32C>G" ], "proteinEffect": { "hgvs": "ENSP00000400844.2:p.Ser11Ter", "hgvsWellDefined": "ENSP00000400844.2:p.Ser11_Gly36delinsValLysLysCysIlePheLeuLeuPheIleAsnHisPheAlaThrArgThrCysTrpProLeuTrpGlyAspGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS754523" }, { "coordinates": [ { "allele": "G", "end": 1006, "referenceAllele": "C", "start": 1005 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000432299.6:c.*835C>G" ], "proteinEffect": { "hgvs": "ENSP00000416783.1:n.*835C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS755407" }, { "coordinates": [ { "allele": "G", "end": 851, "referenceAllele": "C", "start": 850 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000441265.6:c.32C>G" ], "proteinEffect": { "hgvs": "ENSP00000398392.2:p.Ser11Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS247390" }, { "coordinates": [ { "allele": "G", "end": 634, "referenceAllele": "C", "start": 633 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000441265.5:c.32C>G" ], "proteinEffect": { "hgvs": "ENSP00000398392.1:p.Ser11Ter", "hgvsWellDefined": "ENSP00000398392.1:p.Ser11_Gln105del" }, "referenceSequence": "http://reg.genome.network/refseq/RS247125" }, { "coordinates": [ { "allele": "G", "end": 136, "referenceAllele": "C", "start": 135 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000447829.5:c.136C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS299445" }, { "coordinates": [ { "allele": "G", "end": 727, "referenceAllele": "C", "start": 726 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000455445.6:c.32C>G" ], "proteinEffect": { "hgvs": "ENSP00000398272.2:p.Ser11Ter", "hgvsWellDefined": "ENSP00000398272.2:p.Ser11_Cys515delinsValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247178" }, { "coordinates": [ { "allele": "G", "end": 730, "referenceAllele": "C", "start": 729 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000456676.6:c.730C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS247416" }, { "coordinates": [ { "allele": "G", "end": 96, "referenceAllele": "C", "start": 95 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000458009.5:c.96C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS304207" }, { "coordinates": [ { "allele": "G", "end": 899, "referenceAllele": "C", "start": 898 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000458205.6:c.32C>G" ], "proteinEffect": { "hgvs": "ENSP00000402667.2:p.Ser11Ter", "hgvsWellDefined": "ENSP00000402667.2:p.Ser11_Cys515delinsValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247365" }, { "coordinates": [ { "allele": "G", "end": 862, "referenceAllele": "C", "start": 861 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000536378.5:c.32C>G" ], "proteinEffect": { "hgvs": "ENSP00000444286.2:p.Ser11Ter", "hgvsWellDefined": "ENSP00000444286.2:p.Ser11_Cys515delinsValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247118" }, { "coordinates": [ { "allele": "G", "end": 661, "referenceAllele": "C", "start": 660 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000539477.5:c.32C>G" ], "proteinEffect": { "hgvs": "ENSP00000443665.1:p.Ser11Ter", "hgvsWellDefined": "ENSP00000443665.1:p.Ser11_Cys515delinsValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247348" }, { "@id": "http://reg.genome.network/allele/PA167410", "coordinates": [ { "allele": "G", "end": 953, "referenceAllele": "C", "start": 952 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_000249.3:c.755C>G", "LRG_216t1:c.755C>G" ], "proteinEffect": { "hgvs": "NP_000240.1:p.Ser252Ter", "hgvsWellDefined": "NP_000240.1:p.Ser252_Cys756delinsValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006311" }, { "@id": "http://reg.genome.network/allele/PA2826037900", "coordinates": [ { "allele": "G", "end": 748, "referenceAllele": "C", "start": 747 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167617.1:c.461C>G" ], "proteinEffect": { "hgvs": "NP_001161089.1:p.Ser154Ter", "hgvsWellDefined": "NP_001161089.1:p.Ser154_Cys658delinsValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014972" }, { "@id": "http://reg.genome.network/allele/PA2826039743", "coordinates": [ { "allele": "G", "end": 748, "referenceAllele": "C", "start": 747 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167618.1:c.32C>G" ], "proteinEffect": { "hgvs": "NP_001161090.1:p.Ser11Ter", "hgvsWellDefined": "NP_001161090.1:p.Ser11_Cys515delinsValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014973" }, { "@id": "http://reg.genome.network/allele/PA2826041584", "coordinates": [ { "allele": "G", "end": 661, "referenceAllele": "C", "start": 660 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167619.1:c.32C>G" ], "proteinEffect": { "hgvs": "NP_001161091.1:p.Ser11Ter", "hgvsWellDefined": "NP_001161091.1:p.Ser11_Cys515delinsValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014974" }, { "@id": "http://reg.genome.network/allele/PA2826457369", "coordinates": [ { "allele": "G", "end": 953, "referenceAllele": "C", "start": 952 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001258271.1:c.755C>G" ], "proteinEffect": { "hgvs": "NP_001245200.1:p.Ser252Ter", "hgvsWellDefined": "NP_001245200.1:p.Ser252_Cys687delinsValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019757" }, { "@id": "http://reg.genome.network/allele/PA2826458956", "coordinates": [ { "allele": "G", "end": 862, "referenceAllele": "C", "start": 861 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001258273.1:c.32C>G" ], "proteinEffect": { "hgvs": "NP_001245202.1:p.Ser11Ter", "hgvsWellDefined": "NP_001245202.1:p.Ser11_Cys515delinsValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019759" }, { "@id": "http://reg.genome.network/allele/PA2826460798", "coordinates": [ { "allele": "G", "end": 898, "referenceAllele": "C", "start": 897 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001258274.1:c.32C>G" ], "proteinEffect": { "hgvs": "NP_001245203.1:p.Ser11Ter", "hgvsWellDefined": "NP_001245203.1:p.Ser11_Cys515delinsValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019760" }, { "coordinates": [ { "allele": "G", "end": 765, "endIntronDirection": "+", "endIntronOffset": 2410, "referenceAllele": "C", "start": 765, "startIntronDirection": "+", "startIntronOffset": 2409 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "XM_005265161.1:c.677+2410C>G" ], "proteinEffect": { "hgvs": "XP_005265218.1:n.677+2410C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS064527" }, { "coordinates": [ { "allele": "G", "end": 753, "referenceAllele": "C", "start": 752 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "XM_005265163.1:c.32C>G" ], "proteinEffect": { "hgvs": "XP_005265220.1:p.Ser11Ter", "hgvsWellDefined": "XP_005265220.1:p.Ser11_Cys515delinsValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064528" }, { "coordinates": [ { "allele": "G", "end": 806, "referenceAllele": "C", "start": 805 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "XM_005265164.1:c.32C>G" ], "proteinEffect": { "hgvs": "XP_005265221.1:p.Ser11Ter", "hgvsWellDefined": "XP_005265221.1:p.Ser11_Cys515delinsValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064529" }, { "coordinates": [ { "allele": "G", "end": 761, "referenceAllele": "C", "start": 760 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "XM_005265166.1:c.-175C>G" ], "proteinEffect": { "hgvs": "XP_005265223.1:n.-175C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS064530" }, { "coordinates": [ { "allele": "G", "end": 761, "referenceAllele": "C", "start": 760 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "XM_011533727.1:c.-72C>G" ], "proteinEffect": { "hgvs": "XP_011532029.1:n.-72C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS100748" }, { "@id": "http://reg.genome.network/allele/PA2826037900", "coordinates": [ { "allele": "G", "end": 1175, "referenceAllele": "C", "start": 1174 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167617.2:c.461C>G" ], "proteinEffect": { "hgvs": "NP_001161089.1:p.Ser154Ter", "hgvsWellDefined": "NP_001161089.1:p.Ser154_Cys658delinsValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511683" }, { "@id": "http://reg.genome.network/allele/PA2826039743", "coordinates": [ { "allele": "G", "end": 1175, "referenceAllele": "C", "start": 1174 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167618.2:c.32C>G" ], "proteinEffect": { "hgvs": "NP_001161090.1:p.Ser11Ter", "hgvsWellDefined": "NP_001161090.1:p.Ser11_Cys515delinsValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511684" }, { "@id": "http://reg.genome.network/allele/PA2826041584", "coordinates": [ { "allele": "G", "end": 1088, "referenceAllele": "C", "start": 1087 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167619.2:c.32C>G" ], "proteinEffect": { "hgvs": "NP_001161091.1:p.Ser11Ter", "hgvsWellDefined": "NP_001161091.1:p.Ser11_Cys515delinsValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511685" }, { "@id": "http://reg.genome.network/allele/PA2826460798", "coordinates": [ { "allele": "G", "end": 1325, "referenceAllele": "C", "start": 1324 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001258274.2:c.32C>G" ], "proteinEffect": { "hgvs": "NP_001245203.1:p.Ser11Ter", "hgvsWellDefined": "NP_001245203.1:p.Ser11_Cys515delinsValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511992" }, { "@id": "http://reg.genome.network/allele/PA2827884961", "coordinates": [ { "allele": "G", "end": 856, "referenceAllele": "C", "start": 855 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354615.1:c.32C>G" ], "proteinEffect": { "hgvs": "NP_001341544.1:p.Ser11Ter", "hgvsWellDefined": "NP_001341544.1:p.Ser11_Cys515delinsValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522556" }, { "@id": "http://reg.genome.network/allele/PA2827886804", "coordinates": [ { "allele": "G", "end": 856, "referenceAllele": "C", "start": 855 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354616.1:c.32C>G" ], "proteinEffect": { "hgvs": "NP_001341545.1:p.Ser11Ter", "hgvsWellDefined": "NP_001341545.1:p.Ser11_Cys515delinsValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522557" }, { "@id": "http://reg.genome.network/allele/PA2827888647", "coordinates": [ { "allele": "G", "end": 948, "referenceAllele": "C", "start": 947 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354617.1:c.32C>G" ], "proteinEffect": { "hgvs": "NP_001341546.1:p.Ser11Ter", "hgvsWellDefined": "NP_001341546.1:p.Ser11_Cys515delinsValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522558" }, { "@id": "http://reg.genome.network/allele/PA2827890490", "coordinates": [ { "allele": "G", "end": 1180, "referenceAllele": "C", "start": 1179 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354618.1:c.32C>G" ], "proteinEffect": { "hgvs": "NP_001341547.1:p.Ser11Ter", "hgvsWellDefined": "NP_001341547.1:p.Ser11_Cys515delinsValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522559" }, { "@id": "http://reg.genome.network/allele/PA2827892308", "coordinates": [ { "allele": "G", "end": 1304, "referenceAllele": "C", "start": 1303 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354619.1:c.32C>G" ], "proteinEffect": { "hgvs": "NP_001341548.1:p.Ser11Ter", "hgvsWellDefined": "NP_001341548.1:p.Ser11_Cys515delinsValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522560" }, { "@id": "http://reg.genome.network/allele/PA2827894263", "coordinates": [ { "allele": "G", "end": 943, "referenceAllele": "C", "start": 942 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354620.1:c.461C>G" ], "proteinEffect": { "hgvs": "NP_001341549.1:p.Ser154Ter", "hgvsWellDefined": "NP_001341549.1:p.Ser154_Cys658delinsValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522561" }, { "coordinates": [ { "allele": "G", "end": 1102, "endIntronDirection": "+", "endIntronOffset": 2410, "referenceAllele": "C", "start": 1102, "startIntronDirection": "+", "startIntronOffset": 2409 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354621.1:c.-140+2410C>G" ], "proteinEffect": { "hgvs": "NP_001341550.1:n.-140+2410C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS522562" }, { "coordinates": [ { "allele": "G", "end": 1180, "referenceAllele": "C", "start": 1179 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354622.1:c.-175C>G" ], "proteinEffect": { "hgvs": "NP_001341551.1:n.-175C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS522563" }, { "coordinates": [ { "allele": "G", "end": 1089, "referenceAllele": "C", "start": 1088 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354623.1:c.-175C>G" ], "proteinEffect": { "hgvs": "NP_001341552.1:n.-175C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS522564" }, { "coordinates": [ { "allele": "G", "end": 953, "referenceAllele": "C", "start": 952 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354624.1:c.-72C>G" ], "proteinEffect": { "hgvs": "NP_001341553.1:n.-72C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS522565" }, { "coordinates": [ { "allele": "G", "end": 851, "referenceAllele": "C", "start": 850 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354625.1:c.-72C>G" ], "proteinEffect": { "hgvs": "NP_001341554.1:n.-72C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS522566" }, { "coordinates": [ { "allele": "G", "end": 948, "referenceAllele": "C", "start": 947 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354626.1:c.-72C>G" ], "proteinEffect": { "hgvs": "NP_001341555.1:n.-72C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS522567" }, { "coordinates": [ { "allele": "G", "end": 1180, "referenceAllele": "C", "start": 1179 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354627.1:c.-72C>G" ], "proteinEffect": { "hgvs": "NP_001341556.1:n.-72C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS522568" }, { "@id": "http://reg.genome.network/allele/PA2827906882", "coordinates": [ { "allele": "G", "end": 953, "referenceAllele": "C", "start": 952 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354628.1:c.755C>G" ], "proteinEffect": { "hgvs": "NP_001341557.1:p.Ser252Ter", "hgvsWellDefined": "NP_001341557.1:p.Ser252_Cys725delinsValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522569" }, { "@id": "http://reg.genome.network/allele/PA2827909188", "coordinates": [ { "allele": "G", "end": 854, "referenceAllele": "C", "start": 853 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354629.1:c.656C>G" ], "proteinEffect": { "hgvs": "NP_001341558.1:p.Ser219Ter", "hgvsWellDefined": "NP_001341558.1:p.Ser219_Cys723delinsValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522570" }, { "@id": "http://reg.genome.network/allele/PA916038796", "coordinates": [ { "allele": "G", "end": 953, "referenceAllele": "C", "start": 952 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354630.1:c.755C>G" ], "proteinEffect": { "hgvs": "NP_001341559.1:p.Ser252Ter", "hgvsWellDefined": "NP_001341559.1:p.Ser252_Cys701delinsValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522571" }, { "coordinates": [ { "allele": "G", "end": 738, "endIntronDirection": "+", "endIntronOffset": 2410, "referenceAllele": "C", "start": 738, "startIntronDirection": "+", "startIntronOffset": 2409 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "XM_005265161.2:c.677+2410C>G" ], "proteinEffect": { "hgvs": "XP_005265218.1:n.677+2410C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS536007" }, { "coordinates": [ { "allele": "G", "end": 714, "endIntronDirection": "+", "endIntronOffset": 2410, "referenceAllele": "C", "start": 714, "startIntronDirection": "+", "startIntronOffset": 2409 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "XM_017006450.2:c.-140+2410C>G" ], "proteinEffect": { "hgvs": "XP_016861939.1:n.-140+2410C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS561484" }, { "@id": "http://reg.genome.network/allele/PA167410", "coordinates": [ { "allele": "G", "end": 785, "referenceAllele": "C", "start": 784 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_000249.4:c.755C>G" ], "proteinEffect": { "hgvs": "NP_000240.1:p.Ser252Ter", "hgvsWellDefined": "NP_000240.1:p.Ser252_Cys756delinsValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674761", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000231790.8:c.755C>G" }, "RefSeq": { "hgvs": "NM_000249.4:c.755C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000231790.3:p.Ser252Ter" }, "RefSeq": { "hgvs": "NP_000240.1:p.Ser252Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826037900", "coordinates": [ { "allele": "G", "end": 1007, "referenceAllele": "C", "start": 1006 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167617.3:c.461C>G" ], "proteinEffect": { "hgvs": "NP_001161089.1:p.Ser154Ter", "hgvsWellDefined": "NP_001161089.1:p.Ser154_Cys658delinsValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713242" }, { "@id": "http://reg.genome.network/allele/PA2826039743", "coordinates": [ { "allele": "G", "end": 1007, "referenceAllele": "C", "start": 1006 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167618.3:c.32C>G" ], "proteinEffect": { "hgvs": "NP_001161090.1:p.Ser11Ter", "hgvsWellDefined": "NP_001161090.1:p.Ser11_Cys515delinsValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713243" }, { "@id": "http://reg.genome.network/allele/PA2826041584", "coordinates": [ { "allele": "G", "end": 920, "referenceAllele": "C", "start": 919 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167619.3:c.32C>G" ], "proteinEffect": { "hgvs": "NP_001161091.1:p.Ser11Ter", "hgvsWellDefined": "NP_001161091.1:p.Ser11_Cys515delinsValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713244" }, { "@id": "http://reg.genome.network/allele/PA2826457369", "coordinates": [ { "allele": "G", "end": 785, "referenceAllele": "C", "start": 784 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001258271.2:c.755C>G" ], "proteinEffect": { "hgvs": "NP_001245200.1:p.Ser252Ter", "hgvsWellDefined": "NP_001245200.1:p.Ser252_Cys687delinsValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714924" }, { "@id": "http://reg.genome.network/allele/PA2826458956", "coordinates": [ { "allele": "G", "end": 694, "referenceAllele": "C", "start": 693 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001258273.2:c.32C>G" ], "proteinEffect": { "hgvs": "NP_001245202.1:p.Ser11Ter", "hgvsWellDefined": "NP_001245202.1:p.Ser11_Cys515delinsValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714925" }, { "@id": "http://reg.genome.network/allele/PA2826460798", "coordinates": [ { "allele": "G", "end": 1157, "referenceAllele": "C", "start": 1156 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001258274.3:c.32C>G" ], "proteinEffect": { "hgvs": "NP_001245203.1:p.Ser11Ter", "hgvsWellDefined": "NP_001245203.1:p.Ser11_Cys515delinsValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714926" }, { "@id": "http://reg.genome.network/allele/PA2827884961", "coordinates": [ { "allele": "G", "end": 688, "referenceAllele": "C", "start": 687 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354615.2:c.32C>G" ], "proteinEffect": { "hgvs": "NP_001341544.1:p.Ser11Ter", "hgvsWellDefined": "NP_001341544.1:p.Ser11_Cys515delinsValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720517" }, { "@id": "http://reg.genome.network/allele/PA2827886804", "coordinates": [ { "allele": "G", "end": 688, "referenceAllele": "C", "start": 687 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354616.2:c.32C>G" ], "proteinEffect": { "hgvs": "NP_001341545.1:p.Ser11Ter", "hgvsWellDefined": "NP_001341545.1:p.Ser11_Cys515delinsValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720518" }, { "@id": "http://reg.genome.network/allele/PA2827888647", "coordinates": [ { "allele": "G", "end": 780, "referenceAllele": "C", "start": 779 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354617.2:c.32C>G" ], "proteinEffect": { "hgvs": "NP_001341546.1:p.Ser11Ter", "hgvsWellDefined": "NP_001341546.1:p.Ser11_Cys515delinsValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720519" }, { "@id": "http://reg.genome.network/allele/PA2827890490", "coordinates": [ { "allele": "G", "end": 1012, "referenceAllele": "C", "start": 1011 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354618.2:c.32C>G" ], "proteinEffect": { "hgvs": "NP_001341547.1:p.Ser11Ter", "hgvsWellDefined": "NP_001341547.1:p.Ser11_Cys515delinsValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720520" }, { "@id": "http://reg.genome.network/allele/PA2827892308", "coordinates": [ { "allele": "G", "end": 1136, "referenceAllele": "C", "start": 1135 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354619.2:c.32C>G" ], "proteinEffect": { "hgvs": "NP_001341548.1:p.Ser11Ter", "hgvsWellDefined": "NP_001341548.1:p.Ser11_Cys515delinsValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720521" }, { "@id": "http://reg.genome.network/allele/PA2827894263", "coordinates": [ { "allele": "G", "end": 775, "referenceAllele": "C", "start": 774 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354620.2:c.461C>G" ], "proteinEffect": { "hgvs": "NP_001341549.1:p.Ser154Ter", "hgvsWellDefined": "NP_001341549.1:p.Ser154_Cys658delinsValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720522" }, { "coordinates": [ { "allele": "G", "end": 934, "endIntronDirection": "+", "endIntronOffset": 2410, "referenceAllele": "C", "start": 934, "startIntronDirection": "+", "startIntronOffset": 2409 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354621.2:c.-140+2410C>G" ], "proteinEffect": { "hgvs": "NP_001341550.1:n.-140+2410C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS720523" }, { "coordinates": [ { "allele": "G", "end": 1012, "referenceAllele": "C", "start": 1011 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354622.2:c.-175C>G" ], "proteinEffect": { "hgvs": "NP_001341551.1:n.-175C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS720524" }, { "coordinates": [ { "allele": "G", "end": 921, "referenceAllele": "C", "start": 920 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354623.2:c.-175C>G" ], "proteinEffect": { "hgvs": "NP_001341552.1:n.-175C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS720525" }, { "coordinates": [ { "allele": "G", "end": 785, "referenceAllele": "C", "start": 784 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354624.2:c.-72C>G" ], "proteinEffect": { "hgvs": "NP_001341553.1:n.-72C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS720526" }, { "coordinates": [ { "allele": "G", "end": 683, "referenceAllele": "C", "start": 682 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354625.2:c.-72C>G" ], "proteinEffect": { "hgvs": "NP_001341554.1:n.-72C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS720527" }, { "coordinates": [ { "allele": "G", "end": 780, "referenceAllele": "C", "start": 779 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354626.2:c.-72C>G" ], "proteinEffect": { "hgvs": "NP_001341555.1:n.-72C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS720528" }, { "coordinates": [ { "allele": "G", "end": 1012, "referenceAllele": "C", "start": 1011 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354627.2:c.-72C>G" ], "proteinEffect": { "hgvs": "NP_001341556.1:n.-72C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS720529" }, { "@id": "http://reg.genome.network/allele/PA2827906882", "coordinates": [ { "allele": "G", "end": 785, "referenceAllele": "C", "start": 784 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354628.2:c.755C>G" ], "proteinEffect": { "hgvs": "NP_001341557.1:p.Ser252Ter", "hgvsWellDefined": "NP_001341557.1:p.Ser252_Cys725delinsValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720530" }, { "@id": "http://reg.genome.network/allele/PA2827909188", "coordinates": [ { "allele": "G", "end": 686, "referenceAllele": "C", "start": 685 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354629.2:c.656C>G" ], "proteinEffect": { "hgvs": "NP_001341558.1:p.Ser219Ter", "hgvsWellDefined": "NP_001341558.1:p.Ser219_Cys723delinsValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720531" }, { "@id": "http://reg.genome.network/allele/PA916038796", "coordinates": [ { "allele": "G", "end": 785, "referenceAllele": "C", "start": 784 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354630.2:c.755C>G" ], "proteinEffect": { "hgvs": "NP_001341559.1:p.Ser252Ter", "hgvsWellDefined": "NP_001341559.1:p.Ser252_Cys701delinsValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720532" } ], "type": "nucleotide" }