{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA011228", "communityStandardTitle": [ "NM_000249.4(MLH1):c.5C>A (p.Ser2Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=330644", "active": true, "id": "COSM330644" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=95769[alleleid]", "alleleId": 95769, "preferredName": "NM_000249.4(MLH1):c.5C>A (p.Ser2Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/90295", "RCV": [ "RCV000075784", "RCV003456001" ], "variationId": 90295 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.37035043C>A?assembly=hg19", "id": "chr3:g.37035043C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.36993552C>A?assembly=hg38", "id": "chr3:g.36993552C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/587779029", "rs": 587779029 } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 36993552, "referenceAllele": "C", "start": 36993551 } ], "hgvs": [ "NC_000003.12:g.36993552C>A", "CM000665.2:g.36993552C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 37035043, "referenceAllele": "C", "start": 37035042 } ], "hgvs": [ "NC_000003.11:g.37035043C>A", "CM000665.1:g.37035043C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 37010047, "referenceAllele": "C", "start": 37010046 } ], "hgvs": [ "NC_000003.10:g.37010047C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "A", "end": 5203, "referenceAllele": "C", "start": 5202 } ], "hgvs": [ "NG_007109.2:g.5203C>A", "LRG_216:g.5203C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000485" }, { "coordinates": [ { "allele": "T", "end": 4753, "referenceAllele": "G", "start": 4752 } ], "hgvs": [ "NG_008418.1:g.4753G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001090" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 196, "referenceAllele": "C", "start": 195 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000413740.2:c.5C>A" ], "proteinEffect": { "hgvs": "ENSP00000416476.2:p.Ser2Ter", "hgvsWellDefined": "ENSP00000416476.2:p.Ser2_Lys612del" }, "referenceSequence": "http://reg.genome.network/refseq/RS914028" }, { "coordinates": [ { "allele": "A", "end": 35, "referenceAllele": "C", "start": 34 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000450420.6:c.5C>A" ], "proteinEffect": { "hgvs": "ENSP00000393006.2:p.Ser2Ter", "hgvsWellDefined": "ENSP00000393006.2:p.Ser2_Glu520delinsPheValAlaGlyValIleArgArgLeuAspGluThrValValAsnArgIleAlaAlaGlyGluValIleGlnArgProAlaAsnAlaIleLysGluMetIleGluAsnCysLeuAspAlaLysSerThrSerIleGlnValIleValLysGluGlyGlyLeuLysLeuIleGlnIleGlnAspAsnGlyThrGlyIleArgLysGluAspLeuAspIleValCysGluArgPheThrThrSerLysLeuGlnSerPheGluAspLeuAlaSerIleSerThrTyrGlyPheArgGlyGluAlaLeuAlaSerIleSerHisValAlaHisValThrIleThrThrLysThrAlaAspGlyLysCysAlaTyrArgAlaSerTyrSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914085" }, { "coordinates": [ { "allele": "A", "end": 35, "referenceAllele": "C", "start": 34 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000456676.7:c.5C>A" ], "proteinEffect": { "hgvs": "ENSP00000416687.3:p.Ser2Ter", "hgvsWellDefined": "ENSP00000416687.3:p.Ser2_Cys687delinsPheValAlaGlyValIleArgArgLeuAspGluThrValValAsnArgIleAlaAlaGlyGluValIleGlnArgProAlaAsnAlaIleLysGluMetIleGluAsnCysLeuAspAlaLysSerThrSerIleGlnValIleValLysGluGlyGlyLeuLysLeuIleGlnIleGlnAspAsnGlyThrGlyIleArgLysGluAspLeuAspIleValCysGluArgPheThrThrSerLysLeuGlnSerPheGluAspLeuAlaSerIleSerThrTyrGlyPheArgGlyGluAlaLeuAlaSerIleSerHisValAlaHisValThrIleThrThrLysThrAlaAspGlyLysCysAlaTyrArgAlaSerTyrSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914097" }, { "coordinates": [ { "allele": "A", "end": 35, "referenceAllele": "C", "start": 34 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000458009.6:c.5C>A" ], "proteinEffect": { "hgvs": "ENSP00000411066.2:p.Ser2Ter", "hgvsWellDefined": "ENSP00000411066.2:p.Ser2_Val314delinsPheValAlaGlyValIleArgArgLeuAspGluThrValValAsnArgIleAlaAlaGlyGluValIleGlnArgProAlaAsnAlaIleLysGluMetIleGluAsnCysLeuAspAlaLysSerThrSerIleGlnValIleValLysGluGlyGlyLeuLysLeuIleGlnIleGlnAspAsnGlyThrGlyIleArgLysGluAspLeuAspIleValCysGluArgPheThrThrSerLysLeuGlnSerPheGluAspLeuAlaSerIleSerThrTyrGlyPheArgGlyGluAlaLeuAlaSerIleSerHisValAlaHisValThrIleThrThrLysThrAlaAspGlyLysCysAlaTyrArgAlaSerTyrSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuArgLeuCysTyrGlnAspLeuLeuAlaProLeuGlyArgTrpLeuAsnProGlnGlnValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914099" }, { "coordinates": [ { "allele": "A", "end": 81, "referenceAllele": "C", "start": 80 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000616768.6:c.5C>A" ], "proteinEffect": { "hgvs": "ENSP00000480669.3:p.Ser2Ter", "hgvsWellDefined": "ENSP00000480669.3:p.Ser2_Cys725delinsPheValAlaGlyValIleArgArgLeuAspGluThrValValAsnArgIleAlaAlaGlyGluValIleGlnArgProAlaAsnAlaIleLysGluMetIleGluAsnCysLeuAspAlaLysSerThrSerIleGlnValIleValLysGluGlyGlyLeuLysLeuIleGlnIleGlnAspAsnGlyThrGlyIleArgLysGluAspLeuAspIleValCysGluArgPheThrThrSerLysLeuGlnSerPheGluAspLeuAlaSerIleSerThrTyrGlyPheArgGlyGluAlaLeuAlaSerIleSerHisValAlaHisValThrIleThrThrLysThrAlaAspGlyLysCysAlaTyrArgAlaSerTyrSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914365" }, { "coordinates": [ { "allele": "A", "end": 327, "referenceAllele": "C", "start": 326 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000673673.2:c.5C>A" ], "proteinEffect": { "hgvs": "ENSP00000500979.2:p.Ser2Ter", "hgvsWellDefined": "ENSP00000500979.2:p.Ser2_Cys701delinsPheValAlaGlyValIleArgArgLeuAspGluThrValValAsnArgIleAlaAlaGlyGluValIleGlnArgProAlaAsnAlaIleLysGluMetIleGluAsnCysLeuAspAlaLysSerThrSerIleGlnValIleValLysGluGlyGlyLeuLysLeuIleGlnIleGlnAspAsnGlyThrGlyIleArgLysGluAspLeuAspIleValCysGluArgPheThrThrSerLysLeuGlnSerPheGluAspLeuAlaSerIleSerThrTyrGlyPheArgGlyGluAlaLeuAlaSerIleSerHisValAlaHisValThrIleThrThrLysThrAlaAspGlyLysCysAlaTyrArgAlaSerTyrSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914447" }, { "coordinates": [ { "allele": "A", "end": 35, "referenceAllele": "C", "start": 34 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000231790.8:c.5C>A" ], "proteinEffect": { "hgvs": "ENSP00000231790.3:p.Ser2Ter", "hgvsWellDefined": "ENSP00000231790.3:p.Ser2_Cys756delinsPheValAlaGlyValIleArgArgLeuAspGluThrValValAsnArgIleAlaAlaGlyGluValIleGlnArgProAlaAsnAlaIleLysGluMetIleGluAsnCysLeuAspAlaLysSerThrSerIleGlnValIleValLysGluGlyGlyLeuLysLeuIleGlnIleGlnAspAsnGlyThrGlyIleArgLysGluAspLeuAspIleValCysGluArgPheThrThrSerLysLeuGlnSerPheGluAspLeuAlaSerIleSerThrTyrGlyPheArgGlyGluAlaLeuAlaSerIleSerHisValAlaHisValThrIleThrThrLysThrAlaAspGlyLysCysAlaTyrArgAlaSerTyrSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS740875", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000231790.8:c.5C>A" }, "RefSeq": { "hgvs": "NM_000249.4:c.5C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000231790.3:p.Ser2Ter" }, "RefSeq": { "hgvs": "NP_000240.1:p.Ser2Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 29, "referenceAllele": "C", "start": 28 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000432299.6:c.5C>A" ], "proteinEffect": { "hgvs": "ENSP00000416783.1:p.Ser2Ter", "hgvsWellDefined": "ENSP00000416783.1:p.Ser2_Thr48delinsPheValAlaGlyValIleArgArgLeuAspGluThrValValAsnArgIleAlaAlaGlyGluValIleGlnArgProAlaAsnAlaIleLysGluMetIleGluAsnTrpTyrGlyGlySerArgAlaGlyLeuThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS755407" }, { "coordinates": [ { "allele": "A", "end": 20, "referenceAllele": "C", "start": 19 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000442249.6:n.20C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS755895" }, { "coordinates": [ { "allele": "A", "end": 36, "referenceAllele": "C", "start": 35 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000673713.1:n.36C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773810" }, { "coordinates": [ { "allele": "A", "end": 30, "referenceAllele": "C", "start": 29 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000673715.1:c.5C>A" ], "proteinEffect": { "hgvs": "ENSP00000501301.1:p.Ser2Ter", "hgvsWellDefined": "ENSP00000501301.1:p.Ser2_Val633delinsPheValAlaGlyValIleArgArgLeuAspGluThrValValAsnArgIleAlaAlaGlyGluValIleGlnArgProAlaAsnAlaIleLysGluMetIleGluAsnCysLeuAspAlaLysSerThrSerIleGlnValIleValLysGluGlyGlyLeuLysLeuIleGlnIleGlnAspAsnGlyThrGlyIleArgLysGluAspLeuAspIleValCysGluArgPheThrThrSerLysLeuGlnSerPheGluAspLeuAlaSerIleSerThrTyrGlyPheArgGlyGluAlaLeuAlaSerIleSerHisValAlaHisValThrIleThrThrLysThrAlaAspGlyLysCysAlaTyrArgAlaSerTyrSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773811" }, { "coordinates": [ { "allele": "A", "end": 22, "referenceAllele": "C", "start": 21 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000673897.1:c.5C>A" ], "proteinEffect": { "hgvs": "ENSP00000501109.1:p.Ser2Ter", "hgvsWellDefined": "ENSP00000501109.1:p.Ser2_Asn38delinsPheValAlaGlyValIleArgArgLeuAspGluThrValValAsnArgIleAlaAlaGlyGluValIleGlnArgProAlaAsnAlaIleLysGluMetIleGluAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773953" }, { "coordinates": [ { "allele": "A", "end": 64, "referenceAllele": "C", "start": 63 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000673899.1:c.5C>A" ], "proteinEffect": { "hgvs": "ENSP00000501030.1:p.Ser2Ter", "hgvsWellDefined": "ENSP00000501030.1:p.Ser2_Cys512delinsPheValAlaGlyValIleArgArgLeuAspGluThrValValAsnArgIleAlaAlaGlyGluValIleGlnArgProAlaAsnAlaIleLysGluMetIleGluAsnCysLeuAspAlaLysSerThrSerIleGlnValIleValLysGluGlyGlyLeuLysLeuIleGlnIleGlnAspAsnGlyThrGlyIleArgLysGluAspLeuAspIleValCysGluArgPheThrThrSerLysLeuGlnSerPheGluAspLeuAlaSerIleSerThrTyrGlyPheArgGlyGluAlaLeuAlaSerIleSerHisValAlaHisValThrIleThrThrLysThrAlaAspGlyLysCysAlaTyrArgAlaSerTyrSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773955" }, { "coordinates": [ { "allele": "A", "end": 14, "referenceAllele": "C", "start": 13 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000673947.1:c.5C>A" ], "proteinEffect": { "hgvs": "ENSP00000501304.1:p.Ser2Ter", "hgvsWellDefined": "ENSP00000501304.1:p.Ser2_Asn38delinsPheValAlaGlyValIleArgArgLeuAspGluThrValValAsnArgIleAlaAlaGlyGluValIleGlnArgProAlaAsnAlaIleLysGluMetIleGluAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773999" }, { "coordinates": [ { "allele": "A", "end": 38, "referenceAllele": "C", "start": 37 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000673972.1:c.5C>A" ], "proteinEffect": { "hgvs": "ENSP00000501281.1:p.Ser2Ter", "hgvsWellDefined": "ENSP00000501281.1:p.Ser2_Asn38delinsPheValAlaGlyValIleArgArgLeuAspGluThrValValAsnArgIleAlaAlaGlyGluValIleGlnArgProAlaAsnAlaIleLysGluMetIleGluAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774014" }, { "coordinates": [ { "allele": "A", "end": 58, "referenceAllele": "C", "start": 57 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000674111.1:c.5C>A" ], "proteinEffect": { "hgvs": "ENSP00000501162.1:p.Ser2Ter", "hgvsWellDefined": "ENSP00000501162.1:p.Ser2_Pro568delinsPheValAlaGlyValIleArgArgLeuAspGluThrValValAsnArgIleAlaAlaGlyGluValIleGlnArgProAlaAsnAlaIleLysGluMetIleGluAsnCysLeuAspAlaLysSerThrSerIleGlnValIleValLysGluGlyGlyLeuLysLeuIleGlnIleGlnAspAsnGlyThrGlyIleArgLysGluAspLeuAspIleValCysGluArgPheThrThrSerLysLeuGlnSerPheGluAspLeuAlaSerIleSerThrTyrGlyPheArgGlyGluAlaLeuAlaSerIleSerHisValAlaHisValThrIleThrThrLysThrAlaAspGlyLysCysAlaTyrArgAlaSerTyrSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuArgSerGlnHisArgSerLeuThrLeuProCysLeuProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774130" }, { "coordinates": [ { "allele": "A", "end": 221, "referenceAllele": "C", "start": 220 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000231790.6:c.5C>A" ], "proteinEffect": { "hgvs": "ENSP00000231790.2:p.Ser2Ter", "hgvsWellDefined": "ENSP00000231790.2:p.Ser2_Cys756delinsPheValAlaGlyValIleArgArgLeuAspGluThrValValAsnArgIleAlaAlaGlyGluValIleGlnArgProAlaAsnAlaIleLysGluMetIleGluAsnCysLeuAspAlaLysSerThrSerIleGlnValIleValLysGluGlyGlyLeuLysLeuIleGlnIleGlnAspAsnGlyThrGlyIleArgLysGluAspLeuAspIleValCysGluArgPheThrThrSerLysLeuGlnSerPheGluAspLeuAlaSerIleSerThrTyrGlyPheArgGlyGluAlaLeuAlaSerIleSerHisValAlaHisValThrIleThrThrLysThrAlaAspGlyLysCysAlaTyrArgAlaSerTyrSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS246728" }, { "coordinates": [ { "allele": "A", "end": 29, "referenceAllele": "C", "start": 28 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000432299.5:c.5C>A" ], "proteinEffect": { "hgvs": "ENSP00000416783.1:p.Ser2Ter", "hgvsWellDefined": "ENSP00000416783.1:p.Ser2_Thr48delinsPheValAlaGlyValIleArgArgLeuAspGluThrValValAsnArgIleAlaAlaGlyGluValIleGlnArgProAlaAsnAlaIleLysGluMetIleGluAsnTrpTyrGlyGlySerArgAlaGlyLeuThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS292022" }, { "coordinates": [ { "allele": "A", "end": 20, "referenceAllele": "C", "start": 19 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000442249.5:c.5C>A" ], "proteinEffect": { "hgvs": "ENSP00000387511.1:p.Ser2Ter", "hgvsWellDefined": "ENSP00000387511.1:p.Ser2_Asn38delinsPheValAlaGlyValIleArgArgLeuAspGluThrValValAsnArgIleAlaAlaGlyGluValIleGlnArgProAlaAsnAlaIleLysGluMetIleGluAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS296790" }, { "coordinates": [ { "allele": "A", "end": 19, "referenceAllele": "C", "start": 18 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000454028.5:c.5C>A" ], "proteinEffect": { "hgvs": "ENSP00000392649.1:p.Ser2Ter", "hgvsWellDefined": "ENSP00000392649.1:p.Ser2_Asn38delinsPheValAlaGlyValIleArgArgLeuAspGluThrValValAsnArgIleAlaAlaGlyGluValIleGlnArgProAlaAsnAlaIleLysGluMetIleGluAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS302384" }, { "coordinates": [ { "allele": "A", "end": 37, "referenceAllele": "C", "start": 36 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000457004.5:c.5C>A" ], "proteinEffect": { "hgvs": "ENSP00000407773.1:p.Ser2Ter", "hgvsWellDefined": "ENSP00000407773.1:p.Ser2_Asn38delinsPheValAlaGlyValIleArgArgLeuAspGluThrValValAsnArgIleAlaAlaGlyGluValIleGlnArgProAlaAsnAlaIleLysGluMetIleGluAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS303743" }, { "coordinates": [ { "allele": "A", "end": 203, "referenceAllele": "C", "start": 202 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000536378.5:c.-628C>A" ], "proteinEffect": { "hgvs": "ENSP00000444286.2:n.-628C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS247118" }, { "@id": "http://reg.genome.network/allele/PA331088", "coordinates": [ { "allele": "A", "end": 203, "referenceAllele": "C", "start": 202 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_000249.3:c.5C>A", "LRG_216t1:c.5C>A" ], "proteinEffect": { "hgvs": "NP_000240.1:p.Ser2Ter", "hgvsWellDefined": 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"NP_001341557.1:p.Ser2_Cys725delinsPheValAlaGlyValIleArgArgLeuAspGluThrValValAsnArgIleAlaAlaGlyGluValIleGlnArgProAlaAsnAlaIleLysGluMetIleGluAsnCysLeuAspAlaLysSerThrSerIleGlnValIleValLysGluGlyGlyLeuLysLeuIleGlnIleGlnAspAsnGlyThrGlyIleArgLysGluAspLeuAspIleValCysGluArgPheThrThrSerLysLeuGlnSerPheGluAspLeuAlaSerIleSerThrTyrGlyPheArgGlyGluAlaLeuAlaSerIleSerHisValAlaHisValThrIleThrThrLysThrAlaAspGlyLysCysAlaTyrArgAlaSerTyrSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522569" }, { "@id": "http://reg.genome.network/allele/PA2827908404", "coordinates": [ { "allele": "A", "end": 203, "referenceAllele": "C", "start": 202 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354629.1:c.5C>A" ], "proteinEffect": { "hgvs": "NP_001341558.1:p.Ser2Ter", "hgvsWellDefined": "NP_001341558.1:p.Ser2_Cys723delinsPheValAlaGlyValIleArgArgLeuAspGluThrValValAsnArgIleAlaAlaGlyGluValIleGlnArgProAlaAsnAlaIleLysGluMetIleGluAsnCysLeuAspAlaLysSerThrSerIleGlnValIleValLysGluGlyGlyLeuLysLeuIleGlnIleGlnAspAsnGlyThrGlyIleArgAlaLeuAlaSerIleSerHisValAlaHisValThrIleThrThrLysThrAlaAspGlyLysCysAlaTyrArgAlaSerTyrSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522570" }, { "@id": "http://reg.genome.network/allele/PA916038538", "coordinates": [ { "allele": "A", "end": 203, "referenceAllele": "C", "start": 202 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354630.1:c.5C>A" ], "proteinEffect": { "hgvs": "NP_001341559.1:p.Ser2Ter", "hgvsWellDefined": "NP_001341559.1:p.Ser2_Cys701delinsPheValAlaGlyValIleArgArgLeuAspGluThrValValAsnArgIleAlaAlaGlyGluValIleGlnArgProAlaAsnAlaIleLysGluMetIleGluAsnCysLeuAspAlaLysSerThrSerIleGlnValIleValLysGluGlyGlyLeuLysLeuIleGlnIleGlnAspAsnGlyThrGlyIleArgLysGluAspLeuAspIleValCysGluArgPheThrThrSerLysLeuGlnSerPheGluAspLeuAlaSerIleSerThrTyrGlyPheArgGlyGluAlaLeuAlaSerIleSerHisValAlaHisValThrIleThrThrLysThrAlaAspGlyLysCysAlaTyrArgAlaSerTyrSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522571" }, { "coordinates": [ { "allele": "A", "end": 66, "referenceAllele": "C", "start": 65 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "XM_005265161.2:c.5C>A" ], "proteinEffect": { "hgvs": "XP_005265218.1:p.Ser2Ter", "hgvsWellDefined": "XP_005265218.1:p.Ser2_Cys687delinsPheValAlaGlyValIleArgArgLeuAspGluThrValValAsnArgIleAlaAlaGlyGluValIleGlnArgProAlaAsnAlaIleLysGluMetIleGluAsnCysLeuAspAlaLysSerThrSerIleGlnValIleValLysGluGlyGlyLeuLysLeuIleGlnIleGlnAspAsnGlyThrGlyIleArgLysGluAspLeuAspIleValCysGluArgPheThrThrSerLysLeuGlnSerPheGluAspLeuAlaSerIleSerThrTyrGlyPheArgGlyGluAlaLeuAlaSerIleSerHisValAlaHisValThrIleThrThrLysThrAlaAspGlyLysCysAlaTyrArgAlaSerTyrSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536007" }, { "coordinates": [ { "allele": "A", "end": 47, "referenceAllele": "C", "start": 46 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "XM_017006450.2:c.-807C>A" ], "proteinEffect": { "hgvs": "XP_016861939.1:n.-807C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS561484" }, { "@id": "http://reg.genome.network/allele/PA331088", "coordinates": [ { "allele": "A", "end": 35, "referenceAllele": "C", "start": 34 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_000249.4:c.5C>A" ], "proteinEffect": { "hgvs": "NP_000240.1:p.Ser2Ter", "hgvsWellDefined": "NP_000240.1:p.Ser2_Cys756delinsPheValAlaGlyValIleArgArgLeuAspGluThrValValAsnArgIleAlaAlaGlyGluValIleGlnArgProAlaAsnAlaIleLysGluMetIleGluAsnCysLeuAspAlaLysSerThrSerIleGlnValIleValLysGluGlyGlyLeuLysLeuIleGlnIleGlnAspAsnGlyThrGlyIleArgLysGluAspLeuAspIleValCysGluArgPheThrThrSerLysLeuGlnSerPheGluAspLeuAlaSerIleSerThrTyrGlyPheArgGlyGluAlaLeuAlaSerIleSerHisValAlaHisValThrIleThrThrLysThrAlaAspGlyLysCysAlaTyrArgAlaSerTyrSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674761", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000231790.8:c.5C>A" }, "RefSeq": { "hgvs": "NM_000249.4:c.5C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000231790.3:p.Ser2Ter" }, "RefSeq": { "hgvs": "NP_000240.1:p.Ser2Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 35, "referenceAllele": "C", "start": 34 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167617.3:c.-512C>A" ], "proteinEffect": { "hgvs": "NP_001161089.1:n.-512C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS713242" }, { "coordinates": [ { "allele": "A", "end": 35, "referenceAllele": "C", "start": 34 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167618.3:c.-941C>A" ], "proteinEffect": { "hgvs": "NP_001161090.1:n.-941C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS713243" }, { "coordinates": [ { "allele": "A", "end": 35, "referenceAllele": "C", "start": 34 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167619.3:c.-854C>A" ], "proteinEffect": { "hgvs": "NP_001161091.1:n.-854C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS713244" }, { "@id": "http://reg.genome.network/allele/PA2826456376", "coordinates": [ { "allele": "A", "end": 35, "referenceAllele": "C", "start": 34 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001258271.2:c.5C>A" ], "proteinEffect": { "hgvs": "NP_001245200.1:p.Ser2Ter", "hgvsWellDefined": "NP_001245200.1:p.Ser2_Cys687delinsPheValAlaGlyValIleArgArgLeuAspGluThrValValAsnArgIleAlaAlaGlyGluValIleGlnArgProAlaAsnAlaIleLysGluMetIleGluAsnCysLeuAspAlaLysSerThrSerIleGlnValIleValLysGluGlyGlyLeuLysLeuIleGlnIleGlnAspAsnGlyThrGlyIleArgLysGluAspLeuAspIleValCysGluArgPheThrThrSerLysLeuGlnSerPheGluAspLeuAlaSerIleSerThrTyrGlyPheArgGlyGluAlaLeuAlaSerIleSerHisValAlaHisValThrIleThrThrLysThrAlaAspGlyLysCysAlaTyrArgAlaSerTyrSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714924" }, { "coordinates": [ { "allele": "A", "end": 35, "referenceAllele": "C", "start": 34 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001258273.2:c.-628C>A" ], "proteinEffect": { "hgvs": "NP_001245202.1:n.-628C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS714925" }, { "coordinates": [ { "allele": "A", "end": 35, "referenceAllele": "C", "start": 34 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001258274.3:c.-1091C>A" ], "proteinEffect": { "hgvs": "NP_001245203.1:n.-1091C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS714926" }, { "coordinates": [ { "allele": "A", "end": 35, "referenceAllele": "C", "start": 34 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354615.2:c.-622C>A" ], "proteinEffect": { "hgvs": "NP_001341544.1:n.-622C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720517" }, { "coordinates": [ { "allele": "A", "end": 35, "referenceAllele": "C", "start": 34 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354616.2:c.-622C>A" ], "proteinEffect": { "hgvs": "NP_001341545.1:n.-622C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720518" }, { "coordinates": [ { "allele": "A", "end": 35, "referenceAllele": "C", "start": 34 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354617.2:c.-714C>A" ], "proteinEffect": { "hgvs": "NP_001341546.1:n.-714C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720519" }, { "coordinates": [ { "allele": "A", "end": 35, "referenceAllele": "C", "start": 34 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354618.2:c.-946C>A" ], "proteinEffect": { "hgvs": "NP_001341547.1:n.-946C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720520" }, { "coordinates": [ { "allele": "A", "end": 35, "referenceAllele": "C", "start": 34 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354619.2:c.-1070C>A" ], "proteinEffect": { "hgvs": "NP_001341548.1:n.-1070C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720521" }, { "coordinates": [ { "allele": "A", "end": 35, "referenceAllele": "C", "start": 34 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354620.2:c.-280C>A" ], "proteinEffect": { "hgvs": "NP_001341549.1:n.-280C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720522" }, { "coordinates": [ { "allele": "A", "end": 35, "referenceAllele": "C", "start": 34 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354621.2:c.-1039C>A" ], "proteinEffect": { "hgvs": "NP_001341550.1:n.-1039C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720523" }, { "coordinates": [ { "allele": "A", "end": 35, "referenceAllele": "C", "start": 34 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354622.2:c.-1152C>A" ], "proteinEffect": { "hgvs": "NP_001341551.1:n.-1152C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720524" }, { "coordinates": [ { "allele": "A", "end": 35, "referenceAllele": "C", "start": 34 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354623.2:c.-1061C>A" ], "proteinEffect": { "hgvs": "NP_001341552.1:n.-1061C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720525" }, { "coordinates": [ { "allele": "A", "end": 35, "referenceAllele": "C", "start": 34 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354624.2:c.-822C>A" ], "proteinEffect": { "hgvs": "NP_001341553.1:n.-822C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720526" }, { "coordinates": [ { "allele": "A", "end": 35, "referenceAllele": "C", "start": 34 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354625.2:c.-720C>A" ], "proteinEffect": { "hgvs": "NP_001341554.1:n.-720C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720527" }, { "coordinates": [ { "allele": "A", "end": 35, "referenceAllele": "C", "start": 34 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354626.2:c.-817C>A" ], "proteinEffect": { "hgvs": "NP_001341555.1:n.-817C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720528" }, { "coordinates": [ { "allele": "A", "end": 35, "referenceAllele": "C", "start": 34 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354627.2:c.-1049C>A" ], "proteinEffect": { "hgvs": "NP_001341556.1:n.-1049C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720529" }, { "@id": "http://reg.genome.network/allele/PA2827905886", "coordinates": [ { "allele": "A", "end": 35, "referenceAllele": "C", "start": 34 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354628.2:c.5C>A" ], "proteinEffect": { "hgvs": "NP_001341557.1:p.Ser2Ter", "hgvsWellDefined": "NP_001341557.1:p.Ser2_Cys725delinsPheValAlaGlyValIleArgArgLeuAspGluThrValValAsnArgIleAlaAlaGlyGluValIleGlnArgProAlaAsnAlaIleLysGluMetIleGluAsnCysLeuAspAlaLysSerThrSerIleGlnValIleValLysGluGlyGlyLeuLysLeuIleGlnIleGlnAspAsnGlyThrGlyIleArgLysGluAspLeuAspIleValCysGluArgPheThrThrSerLysLeuGlnSerPheGluAspLeuAlaSerIleSerThrTyrGlyPheArgGlyGluAlaLeuAlaSerIleSerHisValAlaHisValThrIleThrThrLysThrAlaAspGlyLysCysAlaTyrArgAlaSerTyrSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720530" }, { "@id": "http://reg.genome.network/allele/PA2827908404", "coordinates": [ { "allele": "A", "end": 35, "referenceAllele": "C", "start": 34 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354629.2:c.5C>A" ], "proteinEffect": { "hgvs": "NP_001341558.1:p.Ser2Ter", "hgvsWellDefined": "NP_001341558.1:p.Ser2_Cys723delinsPheValAlaGlyValIleArgArgLeuAspGluThrValValAsnArgIleAlaAlaGlyGluValIleGlnArgProAlaAsnAlaIleLysGluMetIleGluAsnCysLeuAspAlaLysSerThrSerIleGlnValIleValLysGluGlyGlyLeuLysLeuIleGlnIleGlnAspAsnGlyThrGlyIleArgAlaLeuAlaSerIleSerHisValAlaHisValThrIleThrThrLysThrAlaAspGlyLysCysAlaTyrArgAlaSerTyrSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluProAlaProLeuPheAspLeuAlaMetLeuAlaLeuAspSerProGluSerGlyTrpThrGluGluAspGlyProLysGluGlyLeuAlaGluTyrIleValGluPheLeuLysLysLysAlaGluMetLeuAlaAspTyrPheSerLeuGluIleAspGluGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720531" }, { "@id": "http://reg.genome.network/allele/PA916038538", "coordinates": [ { "allele": "A", "end": 35, "referenceAllele": "C", "start": 34 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354630.2:c.5C>A" ], "proteinEffect": { "hgvs": "NP_001341559.1:p.Ser2Ter", "hgvsWellDefined": "NP_001341559.1:p.Ser2_Cys701delinsPheValAlaGlyValIleArgArgLeuAspGluThrValValAsnArgIleAlaAlaGlyGluValIleGlnArgProAlaAsnAlaIleLysGluMetIleGluAsnCysLeuAspAlaLysSerThrSerIleGlnValIleValLysGluGlyGlyLeuLysLeuIleGlnIleGlnAspAsnGlyThrGlyIleArgLysGluAspLeuAspIleValCysGluArgPheThrThrSerLysLeuGlnSerPheGluAspLeuAlaSerIleSerThrTyrGlyPheArgGlyGluAlaLeuAlaSerIleSerHisValAlaHisValThrIleThrThrLysThrAlaAspGlyLysCysAlaTyrArgAlaSerTyrSerAspGlyLysLeuLysAlaProProLysProCysAlaGlyAsnGlnGlyThrGlnIleThrValGluAspLeuPheTyrAsnIleAlaThrArgArgLysAlaLeuLysAsnProSerGluGluTyrGlyLysIleLeuGluValValGlyArgTyrSerValHisAsnAlaGlyIleSerPheSerValLysLysGlnGlyGluThrValAlaAspValArgThrLeuProAsnAlaSerThrValAspAsnIleArgSerIlePheGlyAsnAlaValSerArgGluLeuIleGluIleGlyCysGluAspLysThrLeuAlaPheLysMetAsnGlyTyrIleSerAsnAlaAsnTyrSerValLysLysCysIlePheLeuLeuPheIleAsnHisArgLeuValGluSerThrSerLeuArgLysAlaIleGluThrValTyrAlaAlaTyrLeuProLysAsnThrHisProPheLeuTyrLeuSerLeuGluIleSerProGlnAsnValAspValAsnValHisProThrLysHisGluValHisPheLeuHisGluGluSerIleLeuGluArgValGlnGlnHisIleGluSerLysLeuLeuGlySerAsnSerSerArgMetTyrPheThrGlnThrLeuLeuProGlyLeuAlaGlyProSerGlyGluMetValLysSerThrThrSerLeuThrSerSerSerThrSerGlySerSerAspLysValTyrAlaHisGlnMetValArgThrAspSerArgGluGlnLysLeuAspAlaPheLeuGlnProLeuSerLysProLeuSerSerGlnProGlnAlaIleValThrGluAspLysThrAspIleSerSerGlyArgAlaArgGlnGlnAspGluGluMetLeuGluLeuProAlaProAlaGluValAlaAlaLysAsnGlnSerLeuGluGlyAspThrThrLysGlyThrSerGluMetSerGluLysArgGlyProThrSerSerAsnProArgLysArgHisArgGluAspSerAspValGluMetValGluAspAspSerArgLysGluMetThrAlaAlaCysThrProArgArgArgIleIleAsnLeuThrSerValLeuSerLeuGlnGluGluIleAsnGluGlnGlyHisGluValLeuArgGluMetLeuHisAsnHisSerPheValGlyCysValAsnProGlnTrpAlaLeuAlaGlnHisGlnThrLysLeuTyrLeuLeuAsnThrThrLysLeuSerGluGluLeuPheTyrGlnIleLeuIleTyrAspPheAlaAsnPheGlyValLeuArgLeuSerGluGlyAsnLeuIleGlyLeuProLeuLeuIleAspAsnTyrValProProLeuGluGlyLeuProIlePheIleLeuArgLeuAlaThrGluValAsnTrpAspGluGluLysGluCysPheGluSerLeuSerLysGluCysAlaMetPheTyrSerIleArgLysGlnTyrIleSerGluGluSerThrLeuSerGlyGlnGlnSerGluValProGlySerIleProAsnSerTrpLysTrpThrValGluHisIleValTyrLysAlaLeuArgSerHisIleLeuProProLysHisPheThrGluAspGlyAsnIleLeuGlnLeuAlaAsnLeuProAspLeuTyrLysValPheGluArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720532" } ], "type": "nucleotide" }