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"http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000529892.6:c.697C>T" ], "proteinEffect": { "hgvs": "ENSP00000432528.2:p.Arg233Ter", "hgvsWellDefined": "ENSP00000432528.2:p.Arg233_Gln472delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914235" }, { "coordinates": [ { "allele": "T", "end": 284, "referenceAllele": "C", "start": 283 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000533178.6:c.278C>T" ], "proteinEffect": { "hgvs": "ENSP00000436430.2:p.Pro93Leu", "hgvsWellDefined": "ENSP00000436430.2:p.Pro93Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS914245" }, { "coordinates": [ { "allele": "T", "end": 1785, "referenceAllele": "C", "start": 1784 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672314.2:c.655C>T" ], "proteinEffect": { "hgvs": "ENSP00000500828.2:p.Arg219Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS914444" }, { "coordinates": [ { "allele": "T", "end": 717, "referenceAllele": "C", "start": 716 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000674679.2:c.*567C>T" ], "proteinEffect": { "hgvs": "ENSP00000501623.2:n.*567C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS914455" }, { "coordinates": [ { "allele": "T", "end": 925, "referenceAllele": "C", "start": 924 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000710952.2:c.739C>T" ], "proteinEffect": { "hgvs": "ENSP00000518552.2:p.Arg247Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS914573", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000710952.2:c.739C>T" }, "RefSeq": { "hgvs": "NM_001128425.2:c.739C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000518552.2:p.Arg247Ter" }, "RefSeq": { "hgvs": "NP_001121897.1:p.Arg247Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 916, "referenceAllele": "C", "start": 915 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672818.3:c.730C>T" ], "proteinEffect": { "hgvs": "ENSP00000500891.1:p.Arg244Ter", "hgvsWellDefined": 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"ENSP00000407590.2:p.Arg219_Gln521delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS756574", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000456914.7:c.655C>T" }, "RefSeq": { "hgvs": "NM_001048174.2:c.655C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000407590.2:p.Arg219Ter" }, "RefSeq": { "hgvs": "NP_001041639.1:p.Arg219Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 719, "referenceAllele": "C", "start": 718 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000461495.6:c.*394C>T" ], "proteinEffect": { "hgvs": "ENSP00000437166.1:n.*394C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS756715" }, { "coordinates": [ { "allele": "T", "end": 1633, "referenceAllele": "C", "start": 1632 } ], "hgvs": [ "ENST00000671898.1:c.1243C>T" ], "proteinEffect": { "hgvs": "ENSP00000499896.1:p.Arg415Ter", "hgvsWellDefined": "ENSP00000499896.1:p.Arg415_Met674delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773205" }, { "coordinates": [ { "allele": "T", "end": 1262, "referenceAllele": "C", "start": 1261 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672011.1:c.623C>T" ], "proteinEffect": { "hgvs": "ENSP00000500418.1:p.Pro208Leu", "hgvsWellDefined": "ENSP00000500418.1:p.Pro208Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS773239" }, { "coordinates": [ { "allele": "T", "end": 1785, "referenceAllele": "C", "start": 1784 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672314.1:c.655C>T" ], "proteinEffect": { "hgvs": "ENSP00000500828.1:p.Arg219Ter", "hgvsWellDefined": "ENSP00000500828.1:p.Arg219_Phe466del" }, "referenceSequence": "http://reg.genome.network/refseq/RS773342" }, { "coordinates": [ { "allele": "T", "end": 1212, "referenceAllele": "C", "start": 1211 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672593.1:c.*628C>T" ], "proteinEffect": { "hgvs": "ENSP00000500455.1:n.*628C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS773427" }, { "coordinates": [ { "allele": "T", "end": 729, "referenceAllele": "C", "start": 728 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672764.1:c.614C>T" ], "proteinEffect": { "hgvs": "ENSP00000500886.1:p.Pro205Leu", "hgvsWellDefined": "ENSP00000500886.1:p.Pro205Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS773483" }, { "coordinates": [ { "allele": "T", "end": 864, "referenceAllele": "C", "start": 863 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672818.2:c.730C>T" ], "proteinEffect": { "hgvs": "ENSP00000500891.1:p.Arg244Ter", "hgvsWellDefined": "ENSP00000500891.1:p.Arg244_Gln546delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773501" }, { "coordinates": [ { "allele": "T", "end": 517, "referenceAllele": "C", "start": 516 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000673134.1:c.*352C>T" ], "proteinEffect": { "hgvs": "ENSP00000500526.1:n.*352C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS773595" }, { "coordinates": [ { "allele": "T", "end": 683, "referenceAllele": "C", "start": 682 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000674679.1:c.683C>T" ], "proteinEffect": { "hgvs": "ENSP00000501623.1:n.683C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS774613" }, { "coordinates": [ { "allele": "T", "end": 769, "referenceAllele": "C", "start": 768 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000354383.10:c.658C>T" ], "proteinEffect": { "hgvs": "ENSP00000346354.6:p.Arg220Ter", "hgvsWellDefined": "ENSP00000346354.6:p.Arg220_Gln522delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247302" }, { "coordinates": [ { "allele": "T", "end": 801, "referenceAllele": "C", "start": 800 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000355498.6:c.655C>T" ], "proteinEffect": { "hgvs": "ENSP00000347685.2:p.Arg219Ter", "hgvsWellDefined": "ENSP00000347685.2:p.Arg219_Gln521delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247152" }, { "coordinates": [ { "allele": "T", "end": 864, "referenceAllele": "C", "start": 863 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372098.7:c.730C>T" ], "proteinEffect": { "hgvs": "ENSP00000361170.3:p.Arg244Ter", "hgvsWellDefined": "ENSP00000361170.3:p.Arg244_Gln546delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247324" }, { "coordinates": [ { "allele": "T", "end": 848, "referenceAllele": "C", "start": 847 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372104.5:c.655C>T" ], "proteinEffect": { "hgvs": "ENSP00000361176.1:p.Arg219Ter", "hgvsWellDefined": "ENSP00000361176.1:p.Arg219_Gln521delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247419" }, { "coordinates": [ { "allele": "T", "end": 834, "referenceAllele": "C", "start": 833 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372110.7:c.700C>T" ], "proteinEffect": { "hgvs": "ENSP00000361182.3:p.Arg234Ter", "hgvsWellDefined": "ENSP00000361182.3:p.Arg234_Gln536delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247212" }, { "coordinates": [ { "allele": "T", "end": 913, "referenceAllele": "C", "start": 912 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372115.7:c.697C>T" ], "proteinEffect": { "hgvs": "ENSP00000361187.3:p.Arg233Ter", "hgvsWellDefined": "ENSP00000361187.3:p.Arg233_Gln535delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247144" }, { "coordinates": [ { "allele": "T", "end": 398, "referenceAllele": "C", "start": 397 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000412971.5:c.271C>T" ], "proteinEffect": { "hgvs": "ENSP00000410263.1:p.Arg91Ter", "hgvsWellDefined": "ENSP00000410263.1:p.Arg91_Ser215del" }, "referenceSequence": "http://reg.genome.network/refseq/RS247381" }, { "coordinates": [ { "allele": "T", "end": 719, "referenceAllele": "C", "start": 718 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000435155.1:c.688C>T" ], "proteinEffect": { "hgvs": "ENSP00000403655.1:p.Arg230Ter", "hgvsWellDefined": "ENSP00000403655.1:p.Arg230_Ala291del" }, "referenceSequence": "http://reg.genome.network/refseq/RS247282" }, { "coordinates": [ { "allele": "T", "end": 731, "referenceAllele": "C", "start": 730 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000448481.5:c.688C>T" ], "proteinEffect": { "hgvs": "ENSP00000409718.1:p.Arg230Ter", "hgvsWellDefined": "ENSP00000409718.1:p.Arg230_Gln532delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS246647" }, { "coordinates": [ { "allele": "T", "end": 955, "referenceAllele": "C", "start": 954 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000450313.5:c.739C>T" ], "proteinEffect": { "hgvs": "ENSP00000408176.1:p.Arg247Ter", "hgvsWellDefined": "ENSP00000408176.1:p.Arg247_Gln549delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247417" }, { "coordinates": [ { "allele": "T", "end": 717, "referenceAllele": "C", "start": 716 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000456914.6:c.655C>T" ], "proteinEffect": { "hgvs": "ENSP00000407590.2:p.Arg219Ter", "hgvsWellDefined": "ENSP00000407590.2:p.Arg219_Gln521delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247236" }, { "coordinates": [ { "allele": "T", "end": 720, "referenceAllele": "C", "start": 719 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000461495.5:c.*394C>T" ], "proteinEffect": { "hgvs": "ENSP00000437166.1:n.*394C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS305992" }, { "coordinates": [ { "allele": "T", "end": 346, "referenceAllele": "C", "start": 345 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000462388.5:n.346C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS306657" }, { "coordinates": [ { "allele": "T", "end": 49, "referenceAllele": "C", "start": 48 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000467459.5:c.49C>T" ], "proteinEffect": { "hgvs": "ENSP00000435889.1:p.Arg17Ter", "hgvsWellDefined": "ENSP00000435889.1:p.Arg17_Pro184delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysGlyPheGlyAspLeuArgSerGlnLeuProThrLeuAspSerAlaThrCysAlaCysLeuProArgSerProGlyThrArgProTrpGluTrpSerThrSerProGluArgProAlaAlaSerProProGlyArgArgAlaLeuProProValPheTrpAsnSerLeuGlyProLeuGlyProLysPheCysTrpCysArgGlyProThrGlnValCysTrpGlnAspCysGlySerSerArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS310589" }, { "coordinates": [ { "allele": "T", "end": 849, "referenceAllele": "C", "start": 848 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000467940.5:c.*578C>T" ], "proteinEffect": { "hgvs": "ENSP00000436478.1:n.*578C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS310975" }, { "coordinates": [ { 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"http://reg.genome.network/refseq/RS319320" }, { "coordinates": [ { "allele": "T", "end": 767, "referenceAllele": "C", "start": 766 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000481571.5:c.*468C>T" ], "proteinEffect": { "hgvs": "ENSP00000436597.1:n.*468C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS321455" }, { "coordinates": [ { "allele": "T", "end": 213, "endIntronDirection": "+", "endIntronOffset": 323, "referenceAllele": "C", "start": 213, "startIntronDirection": "+", "startIntronOffset": 322 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000488731.6:c.187+323C>T" ], "proteinEffect": { "hgvs": "ENSP00000432330.1:n.187+323C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS247146" }, { "coordinates": [ { "allele": "T", "end": 634, "referenceAllele": "C", "start": 633 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000525160.5:c.*306C>T" ], "proteinEffect": { "hgvs": "ENSP00000431568.1:n.*306C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS351225" }, { "coordinates": [ { "allele": "T", "end": 751, "referenceAllele": "C", "start": 750 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000528013.6:c.697C>T" ], "proteinEffect": { "hgvs": "ENSP00000433130.2:p.Arg233Ter", "hgvsWellDefined": "ENSP00000433130.2:p.Arg233_Gln535delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247200" }, { "coordinates": [ { "allele": "T", "end": 422, "endIntronDirection": "+", "endIntronOffset": 323, "referenceAllele": "C", "start": 422, "startIntronDirection": "+", "startIntronOffset": 322 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000529984.5:c.187+323C>T" ], "proteinEffect": { "hgvs": "ENSP00000437093.1:n.187+323C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS247331" }, { "coordinates": [ { "allele": "T", "end": 309, "endIntronDirection": "+", "endIntronOffset": 1951, "referenceAllele": "C", "start": 309, "startIntronDirection": "+", "startIntronOffset": 1950 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000531105.5:c.115+1951C>T" ], "proteinEffect": { "hgvs": "ENSP00000431292.1:n.115+1951C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS246639" }, { 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"NP_001041636.1:p.Arg233_Gln535delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009856" }, { "@id": "http://reg.genome.network/allele/PA2825428078", "coordinates": [ { "allele": "T", "end": 804, "referenceAllele": "C", "start": 803 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048172.1:c.658C>T" ], "proteinEffect": { "hgvs": "NP_001041637.1:p.Arg220Ter", "hgvsWellDefined": "NP_001041637.1:p.Arg220_Gln522delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009857" }, { "@id": "http://reg.genome.network/allele/PA2825429690", "coordinates": [ { "allele": "T", "end": 801, "referenceAllele": "C", "start": 800 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048173.1:c.655C>T" ], "proteinEffect": { "hgvs": "NP_001041638.1:p.Arg219Ter", "hgvsWellDefined": "NP_001041638.1:p.Arg219_Gln521delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009858" }, { "@id": "http://reg.genome.network/allele/PA2825431301", "coordinates": [ { "allele": "T", "end": 720, "referenceAllele": "C", "start": 719 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048174.1:c.655C>T" ], "proteinEffect": { "hgvs": "NP_001041639.1:p.Arg219Ter", "hgvsWellDefined": "NP_001041639.1:p.Arg219_Gln521delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009859" }, { "@id": "http://reg.genome.network/allele/PA170000", "coordinates": [ { "allele": "T", "end": 955, "referenceAllele": "C", "start": 954 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001128425.1:c.739C>T", "LRG_220t1:c.739C>T" ], "proteinEffect": { "hgvs": "NP_001121897.1:p.Arg247Ter", "hgvsWellDefined": "NP_001121897.1:p.Arg247_Gln549delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011778" }, { "@id": "http://reg.genome.network/allele/PA2826823738", "coordinates": [ { "allele": "T", "end": 916, "referenceAllele": "C", "start": 915 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293190.1:c.700C>T" ], "proteinEffect": { "hgvs": "NP_001280119.1:p.Arg234Ter", "hgvsWellDefined": "NP_001280119.1:p.Arg234_Gln536delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024498" }, { "@id": "http://reg.genome.network/allele/PA2826825378", "coordinates": [ { "allele": "T", "end": 753, "referenceAllele": "C", "start": 752 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293191.1:c.688C>T" ], "proteinEffect": { "hgvs": "NP_001280120.1:p.Arg230Ter", "hgvsWellDefined": "NP_001280120.1:p.Arg230_Gln532delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024499" }, { "@id": "http://reg.genome.network/allele/PA2826826708", "coordinates": [ { "allele": "T", "end": 849, "referenceAllele": "C", "start": 848 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293192.1:c.379C>T" ], "proteinEffect": { "hgvs": "NP_001280121.1:p.Arg127Ter", "hgvsWellDefined": "NP_001280121.1:p.Arg127_Gln429delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024500" }, { "@id": "http://reg.genome.network/allele/PA2826828312", "coordinates": [ { "allele": "T", "end": 870, "referenceAllele": "C", "start": 869 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293195.1:c.655C>T" ], "proteinEffect": { "hgvs": "NP_001280124.1:p.Arg219Ter", "hgvsWellDefined": "NP_001280124.1:p.Arg219_Gln521delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024502" }, { "@id": "http://reg.genome.network/allele/PA2826829489", "coordinates": [ { "allele": "T", "end": 738, "referenceAllele": "C", "start": 737 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293196.1:c.379C>T" ], "proteinEffect": { "hgvs": "NP_001280125.1:p.Arg127Ter", "hgvsWellDefined": "NP_001280125.1:p.Arg127_Gln429delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024503" }, { "@id": "http://reg.genome.network/allele/PA2829726190", "coordinates": [ { "allele": "T", "end": 946, "referenceAllele": "C", "start": 945 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_012222.2:c.730C>T" ], "proteinEffect": { "hgvs": "NP_036354.1:p.Arg244Ter", "hgvsWellDefined": "NP_036354.1:p.Arg244_Gln546delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032407" }, { "coordinates": [ { "allele": "T", "end": 1018, "referenceAllele": "C", "start": 1017 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541497.1:c.715C>T" ], "proteinEffect": { "hgvs": "XP_011539799.1:p.Arg239Ter", "hgvsWellDefined": "XP_011539799.1:p.Arg239_Gln541delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108434" }, { "coordinates": [ { "allele": "T", "end": 790, "referenceAllele": "C", "start": 789 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541498.1:c.697C>T" ], "proteinEffect": { "hgvs": "XP_011539800.1:p.Arg233Ter", "hgvsWellDefined": "XP_011539800.1:p.Arg233_Gln535delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108435" }, { "coordinates": [ { "allele": "T", "end": 776, "referenceAllele": "C", "start": 775 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541499.1:c.697C>T" ], "proteinEffect": { "hgvs": "XP_011539801.1:p.Arg233Ter", "hgvsWellDefined": "XP_011539801.1:p.Arg233_Gln535delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108436" }, { "coordinates": [ { "allele": "T", "end": 953, "referenceAllele": "C", "start": 952 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541500.1:c.697C>T" ], "proteinEffect": { "hgvs": "XP_011539802.1:p.Arg233Ter", "hgvsWellDefined": "XP_011539802.1:p.Arg233_Gln535delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108437" }, { "coordinates": [ { "allele": "T", "end": 901, "referenceAllele": "C", "start": 900 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541501.1:c.697C>T" ], "proteinEffect": { "hgvs": "XP_011539803.1:p.Arg233Ter", "hgvsWellDefined": "XP_011539803.1:p.Arg233_Gln535delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108438" }, { "coordinates": [ { "allele": "T", "end": 934, "referenceAllele": "C", "start": 933 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541502.1:c.697C>T" ], "proteinEffect": { "hgvs": "XP_011539804.1:p.Arg233Ter", "hgvsWellDefined": "XP_011539804.1:p.Arg233_Gln535delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108439" }, { "coordinates": [ { "allele": "T", "end": 744, "referenceAllele": "C", "start": 743 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541503.1:c.697C>T" ], "proteinEffect": { "hgvs": "XP_011539805.1:p.Arg233Ter", "hgvsWellDefined": "XP_011539805.1:p.Arg233_Gln535delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108440" }, { "coordinates": [ { "allele": "T", "end": 810, "referenceAllele": "C", "start": 809 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541504.1:c.688C>T" ], "proteinEffect": { "hgvs": "XP_011539806.1:p.Arg230Ter", "hgvsWellDefined": "XP_011539806.1:p.Arg230_Gln532delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108441" }, { "coordinates": [ { "allele": "T", "end": 445, "referenceAllele": "C", "start": 444 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541505.1:c.277C>T" ], "proteinEffect": { "hgvs": "XP_011539807.1:p.Arg93Ter", "hgvsWellDefined": "XP_011539807.1:p.Arg93_Gln395delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108442" }, { "coordinates": [ { "allele": "T", "end": 443, "referenceAllele": "C", "start": 442 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541506.1:c.277C>T" ], "proteinEffect": { "hgvs": "XP_011539808.1:p.Arg93Ter", "hgvsWellDefined": "XP_011539808.1:p.Arg93_Gln395delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108443" }, { "coordinates": [ { "allele": "T", "end": 275, "referenceAllele": "C", "start": 274 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541507.1:c.268C>T" ], "proteinEffect": { "hgvs": "XP_011539809.1:p.Arg90Ter", "hgvsWellDefined": "XP_011539809.1:p.Arg90_Gln392delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108444" }, { "coordinates": [ { "allele": "T", "end": 308, "referenceAllele": "C", "start": 307 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541508.1:c.283C>T" ], "proteinEffect": { "hgvs": "XP_011539810.1:p.Arg95Ter", "hgvsWellDefined": "XP_011539810.1:p.Arg95_Gln397delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108445" }, { "coordinates": [ { "allele": "T", "end": 786, "referenceAllele": "C", "start": 785 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_946658.1:n.786C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS140241" }, { "@id": "http://reg.genome.network/allele/PA2827556660", "coordinates": [ { "allele": "T", "end": 839, "referenceAllele": "C", "start": 838 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350650.1:c.310C>T" ], "proteinEffect": { "hgvs": "NP_001337579.1:p.Arg104Ter", "hgvsWellDefined": "NP_001337579.1:p.Arg104_Gln406delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519533" }, { "@id": "http://reg.genome.network/allele/PA2827557873", "coordinates": [ { "allele": "T", "end": 775, "referenceAllele": "C", "start": 774 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350651.1:c.310C>T" ], "proteinEffect": { "hgvs": "NP_001337580.1:p.Arg104Ter", "hgvsWellDefined": "NP_001337580.1:p.Arg104_Gln406delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519534" }, { "coordinates": [ { "allele": "T", "end": 913, "referenceAllele": "C", "start": 912 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146882.1:n.913C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530438" }, { "coordinates": [ { "allele": "T", "end": 727, "referenceAllele": "C", "start": 726 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146883.1:n.727C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530439" }, { "coordinates": [ { "allele": "T", "end": 1013, "referenceAllele": "C", "start": 1012 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541497.3:c.715C>T" ], "proteinEffect": { "hgvs": "XP_011539799.1:p.Arg239Ter", "hgvsWellDefined": "XP_011539799.1:p.Arg239_Gln541delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554460" }, { "coordinates": [ { "allele": "T", "end": 991, "referenceAllele": "C", "start": 990 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541500.3:c.697C>T" ], "proteinEffect": { "hgvs": "XP_011539802.1:p.Arg233Ter", "hgvsWellDefined": "XP_011539802.1:p.Arg233_Gln535delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554461" }, { "coordinates": [ { "allele": "T", "end": 885, "referenceAllele": "C", "start": 884 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541501.2:c.697C>T" ], "proteinEffect": { "hgvs": "XP_011539803.1:p.Arg233Ter", "hgvsWellDefined": "XP_011539803.1:p.Arg233_Gln535delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554462" }, { "coordinates": [ { "allele": "T", "end": 790, "referenceAllele": "C", "start": 789 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541502.2:c.697C>T" ], "proteinEffect": { "hgvs": "XP_011539804.1:p.Arg233Ter", "hgvsWellDefined": "XP_011539804.1:p.Arg233_Gln535delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554463" }, { "coordinates": [ { "allele": "T", "end": 758, "referenceAllele": "C", "start": 757 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541503.2:c.697C>T" ], "proteinEffect": { "hgvs": "XP_011539805.1:p.Arg233Ter", "hgvsWellDefined": "XP_011539805.1:p.Arg233_Gln535delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554464" }, { "coordinates": [ { "allele": "T", "end": 839, "referenceAllele": "C", "start": 838 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541504.2:c.688C>T" ], "proteinEffect": { "hgvs": "XP_011539806.1:p.Arg230Ter", "hgvsWellDefined": "XP_011539806.1:p.Arg230_Gln532delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554465" }, { "coordinates": [ { "allele": "T", "end": 459, "referenceAllele": "C", "start": 458 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541505.2:c.277C>T" ], "proteinEffect": { "hgvs": "XP_011539807.1:p.Arg93Ter", "hgvsWellDefined": "XP_011539807.1:p.Arg93_Gln395delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554466" }, { "coordinates": [ { "allele": "T", "end": 501, "referenceAllele": "C", "start": 500 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541506.2:c.277C>T" ], "proteinEffect": { "hgvs": "XP_011539808.1:p.Arg93Ter", "hgvsWellDefined": "XP_011539808.1:p.Arg93_Gln395delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554467" }, { "coordinates": [ { "allele": "T", "end": 789, "referenceAllele": "C", "start": 788 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001331.1:c.697C>T" ], "proteinEffect": { "hgvs": "XP_016856820.1:p.Arg233Ter", "hgvsWellDefined": "XP_016856820.1:p.Arg233_Gln535delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557533" }, { "coordinates": [ { "allele": "T", "end": 791, "referenceAllele": "C", "start": 790 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001332.1:c.697C>T" ], "proteinEffect": { "hgvs": "XP_016856821.1:p.Arg233Ter", "hgvsWellDefined": "XP_016856821.1:p.Arg233_Gln535delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557534" }, { "coordinates": [ { "allele": "T", "end": 844, "referenceAllele": "C", "start": 843 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001333.1:c.697C>T" ], "proteinEffect": { "hgvs": "XP_016856822.1:p.Arg233Ter", "hgvsWellDefined": "XP_016856822.1:p.Arg233_Gln535delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557535" }, { "coordinates": [ { "allele": "T", "end": 737, "referenceAllele": "C", "start": 736 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001334.1:c.658C>T" ], "proteinEffect": { "hgvs": "XP_016856823.1:p.Arg220Ter", "hgvsWellDefined": "XP_016856823.1:p.Arg220_Gln522delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557536" }, { "coordinates": [ { "allele": "T", "end": 683, "referenceAllele": "C", "start": 682 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001335.1:c.379C>T" ], "proteinEffect": { "hgvs": "XP_016856824.1:p.Arg127Ter", "hgvsWellDefined": "XP_016856824.1:p.Arg127_Gln429delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557537" }, { "coordinates": [ { "allele": "T", "end": 767, "referenceAllele": "C", "start": 766 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001336.1:c.310C>T" ], "proteinEffect": { "hgvs": "XP_016856825.1:p.Arg104Ter", "hgvsWellDefined": "XP_016856825.1:p.Arg104_Gln406delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557538" }, { "coordinates": [ { "allele": "T", "end": 707, "referenceAllele": "C", "start": 706 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001337.1:c.310C>T" ], "proteinEffect": { "hgvs": "XP_016856826.1:p.Arg104Ter", "hgvsWellDefined": "XP_016856826.1:p.Arg104_Gln406delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557539" }, { "coordinates": [ { "allele": "T", "end": 732, "referenceAllele": "C", "start": 731 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447244.1:c.310C>T" ], "proteinEffect": { "hgvs": "XP_024303012.1:p.Arg104Ter", "hgvsWellDefined": "XP_024303012.1:p.Arg104_Gln406delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580832" }, { "coordinates": [ { "allele": "T", "end": 677, "referenceAllele": "C", "start": 676 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447245.1:c.310C>T" ], "proteinEffect": { "hgvs": "XP_024303013.1:p.Arg104Ter", "hgvsWellDefined": "XP_024303013.1:p.Arg104_Gln406delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580833" }, { "coordinates": [ { "allele": "T", "end": 648, "referenceAllele": "C", "start": 647 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447248.1:c.268C>T" ], "proteinEffect": { "hgvs": "XP_024303016.1:p.Arg90Ter", "hgvsWellDefined": "XP_024303016.1:p.Arg90_Gln392delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580836" }, { "coordinates": [ { "allele": "T", "end": 1000, "referenceAllele": "C", "start": 999 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447249.1:c.139C>T" ], "proteinEffect": { "hgvs": "XP_024303017.1:p.Arg47Ter", "hgvsWellDefined": "XP_024303017.1:p.Arg47_Gln349delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580837" }, { "coordinates": [ { "allele": "T", "end": 1001, "referenceAllele": "C", "start": 1000 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447250.1:c.139C>T" ], "proteinEffect": { "hgvs": "XP_024303018.1:p.Arg47Ter", "hgvsWellDefined": "XP_024303018.1:p.Arg47_Gln349delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580838" }, { "coordinates": [ { "allele": "T", "end": 635, "referenceAllele": "C", "start": 634 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447251.1:c.139C>T" ], "proteinEffect": { "hgvs": "XP_024303019.1:p.Arg47Ter", "hgvsWellDefined": "XP_024303019.1:p.Arg47_Gln349delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580839" }, { "coordinates": [ { "allele": "T", "end": 700, "referenceAllele": "C", "start": 699 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_001737190.1:n.700C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS587991" }, { "coordinates": [ { "allele": "T", "end": 512, "referenceAllele": "C", "start": 511 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_001737192.1:n.512C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS587992" }, { "coordinates": [ { "allele": "T", "end": 692, "referenceAllele": "C", "start": 691 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_002956643.1:n.692C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS602781" }, { "coordinates": [ { "allele": "T", "end": 1227, "referenceAllele": "C", "start": 1226 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_002956644.1:n.1227C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS602782" }, { "coordinates": [ { "allele": "T", "end": 800, "referenceAllele": "C", "start": 799 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_946658.2:n.800C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS614413" }, { "@id": "http://reg.genome.network/allele/PA2825426465", "coordinates": [ { "allele": "T", "end": 883, "referenceAllele": "C", "start": 882 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048171.2:c.655C>T" ], "proteinEffect": { "hgvs": "NP_001041636.2:p.Arg219Ter", "hgvsWellDefined": "NP_001041636.2:p.Arg219_Gln521delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676107" }, { "@id": "http://reg.genome.network/allele/PA170000", "coordinates": [ { "allele": "T", "end": 925, "referenceAllele": "C", "start": 924 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001128425.2:c.739C>T" ], "proteinEffect": { "hgvs": "NP_001121897.1:p.Arg247Ter", "hgvsWellDefined": "NP_001121897.1:p.Arg247_Gln549delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676985", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000710952.2:c.739C>T" }, "RefSeq": { "hgvs": "NM_001128425.2:c.739C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000518552.2:p.Arg247Ter" }, "RefSeq": { "hgvs": "NP_001121897.1:p.Arg247Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825428078", "coordinates": [ { "allele": "T", "end": 809, "referenceAllele": "C", "start": 808 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048172.2:c.658C>T" ], "proteinEffect": { "hgvs": "NP_001041637.1:p.Arg220Ter", "hgvsWellDefined": "NP_001041637.1:p.Arg220_Gln522delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711730" }, { "@id": "http://reg.genome.network/allele/PA2825429690", "coordinates": [ { "allele": "T", "end": 806, "referenceAllele": "C", "start": 805 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048173.2:c.655C>T" ], "proteinEffect": { "hgvs": "NP_001041638.1:p.Arg219Ter", "hgvsWellDefined": "NP_001041638.1:p.Arg219_Gln521delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711731" }, { "@id": "http://reg.genome.network/allele/PA2825431301", "coordinates": [ { "allele": "T", "end": 733, "referenceAllele": "C", "start": 732 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048174.2:c.655C>T" ], "proteinEffect": { "hgvs": "NP_001041639.1:p.Arg219Ter", "hgvsWellDefined": "NP_001041639.1:p.Arg219_Gln521delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711732", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000456914.7:c.655C>T" }, "RefSeq": { "hgvs": "NM_001048174.2:c.655C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000407590.2:p.Arg219Ter" }, "RefSeq": { "hgvs": "NP_001041639.1:p.Arg219Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826823738", "coordinates": [ { "allele": "T", "end": 886, "referenceAllele": "C", "start": 885 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293190.2:c.700C>T" ], "proteinEffect": { "hgvs": "NP_001280119.1:p.Arg234Ter", "hgvsWellDefined": "NP_001280119.1:p.Arg234_Gln536delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716759" }, { "@id": "http://reg.genome.network/allele/PA2826825378", "coordinates": [ { "allele": "T", "end": 766, "referenceAllele": "C", "start": 765 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293191.2:c.688C>T" ], "proteinEffect": { "hgvs": "NP_001280120.1:p.Arg230Ter", "hgvsWellDefined": "NP_001280120.1:p.Arg230_Gln532delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716760" }, { "@id": "http://reg.genome.network/allele/PA2826826708", "coordinates": [ { "allele": "T", "end": 819, "referenceAllele": "C", "start": 818 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293192.2:c.379C>T" ], "proteinEffect": { "hgvs": "NP_001280121.1:p.Arg127Ter", "hgvsWellDefined": "NP_001280121.1:p.Arg127_Gln429delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716761" }, { "@id": "http://reg.genome.network/allele/PA2826828312", "coordinates": [ { "allele": "T", "end": 883, "referenceAllele": "C", "start": 882 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293195.2:c.655C>T" ], "proteinEffect": { "hgvs": "NP_001280124.1:p.Arg219Ter", "hgvsWellDefined": "NP_001280124.1:p.Arg219_Gln521delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716762" }, { "@id": "http://reg.genome.network/allele/PA2826829489", "coordinates": [ { "allele": "T", "end": 742, "referenceAllele": "C", "start": 741 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293196.2:c.379C>T" ], "proteinEffect": { "hgvs": "NP_001280125.1:p.Arg127Ter", "hgvsWellDefined": "NP_001280125.1:p.Arg127_Gln429delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716763" }, { "@id": "http://reg.genome.network/allele/PA2827556660", "coordinates": [ { "allele": "T", "end": 809, "referenceAllele": "C", "start": 808 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350650.2:c.310C>T" ], "proteinEffect": { "hgvs": "NP_001337579.1:p.Arg104Ter", "hgvsWellDefined": "NP_001337579.1:p.Arg104_Gln406delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS719606" }, { "@id": "http://reg.genome.network/allele/PA2827557873", "coordinates": [ { "allele": "T", "end": 745, "referenceAllele": "C", "start": 744 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350651.2:c.310C>T" ], "proteinEffect": { "hgvs": "NP_001337580.1:p.Arg104Ter", "hgvsWellDefined": "NP_001337580.1:p.Arg104_Gln406delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS719607" }, { "@id": "http://reg.genome.network/allele/PA2829726190", "coordinates": [ { "allele": "T", "end": 916, "referenceAllele": "C", "start": 915 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_012222.3:c.730C>T" ], "proteinEffect": { "hgvs": "NP_036354.1:p.Arg244Ter", "hgvsWellDefined": "NP_036354.1:p.Arg244_Gln546delinsAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727852" }, { "coordinates": [ { "allele": "T", "end": 883, "referenceAllele": "C", "start": 882 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146882.2:n.883C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731326" }, { "coordinates": [ { "allele": "T", "end": 732, "referenceAllele": "C", "start": 731 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146883.2:n.732C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731327" } ], "type": "nucleotide" }