{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA340136412", "communityStandardTitle": [ "NM_001048174.2(MUTYH):c.224G>A (p.Trp75Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=472477[alleleid]", "alleleId": 472477, "preferredName": "NM_001048174.2(MUTYH):c.224G>A (p.Trp75Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/485909", "RCV": [ "RCV000657695", "RCV000571879", "RCV000697243" ], "variationId": 485909 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.45799125C>T?assembly=hg19", "id": "chr1:g.45799125C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.45333453C>T?assembly=hg38", "id": "chr1:g.45333453C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1553130185", "rs": 1553130185 } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 45333453, "referenceAllele": "C", "start": 45333452 } ], "hgvs": [ "NC_000001.11:g.45333453C>T", "CM000663.2:g.45333453C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 45799125, "referenceAllele": "C", "start": 45799124 } ], "hgvs": [ "NC_000001.10:g.45799125C>T", "CM000663.1:g.45799125C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 45571712, "referenceAllele": "C", "start": 45571711 } ], "hgvs": [ "NC_000001.9:g.45571712C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "A", "end": 12018, "referenceAllele": "G", "start": 12017 } ], "hgvs": [ "NG_008189.1:g.12018G>A", "LRG_220:g.12018G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000931" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 163, "endIntronDirection": "-", "endIntronOffset": 618, "referenceAllele": "G", "start": 163, "startIntronDirection": "-", "startIntronOffset": 619 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000412971.6:c.37-619G>A" ], "proteinEffect": { "hgvs": "ENSP00000410263.2:n.37-619G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914025" }, { "coordinates": [ { "allele": "A", "end": 408, "referenceAllele": "G", "start": 407 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000435155.2:c.257G>A" ], "proteinEffect": { "hgvs": "ENSP00000403655.2:p.Trp86Ter", "hgvsWellDefined": "ENSP00000403655.2:p.Trp86_Gln532delinsTyrAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914061" }, { "coordinates": [ { "allele": "A", "end": 302, "referenceAllele": "G", "start": 301 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000467459.6:c.224G>A" ], "proteinEffect": { "hgvs": "ENSP00000435889.2:p.Trp75Ter", "hgvsWellDefined": "ENSP00000435889.2:p.Trp75_Pro386delinsTyrAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysGlyPheGlyAspLeuArgSerGlnLeuProThrLeuAspSerAlaThrCysAlaCysLeuProArgSerProGlyThrArgProTrpGluTrpSerThrSerProGluArgProAlaAlaSerProProGlyArgArgAlaLeuProProValPheTrpAsnSerLeuGlyProLeuGlyProLysPheCysTrpCysArgGlyProThrGlnValCysTrpGlnAspCysGlySerSerArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914113" }, { "coordinates": [ { "allele": "A", "end": 748, "referenceAllele": "G", "start": 747 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000483127.2:c.242G>A" ], "proteinEffect": { "hgvs": "ENSP00000436469.2:p.Trp81Ter", "hgvsWellDefined": "ENSP00000436469.2:p.Trp81_Gln527delinsTyrAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914139" }, { "coordinates": [ { "allele": "A", "end": 276, "referenceAllele": "G", "start": 275 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000485271.6:c.224G>A" ], "proteinEffect": { "hgvs": "ENSP00000431264.2:p.Trp75Ter", "hgvsWellDefined": "ENSP00000431264.2:p.Trp75_Met478delinsTyrAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914144" }, { "coordinates": [ { "allele": "A", "end": 427, "referenceAllele": "G", "start": 426 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000529892.6:c.266G>A" ], "proteinEffect": { "hgvs": "ENSP00000432528.2:p.Trp89Ter", "hgvsWellDefined": "ENSP00000432528.2:p.Trp89_Gln472delinsTyrAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914235" }, { "coordinates": [ { "allele": "A", "end": 121, "endIntronDirection": "-", "endIntronOffset": 765, "referenceAllele": "G", "start": 121, "startIntronDirection": "-", "startIntronOffset": 766 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000533178.6:c.116-766G>A" ], "proteinEffect": { "hgvs": "ENSP00000436430.2:n.116-766G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914245" }, { "coordinates": [ { "allele": "A", "end": 1354, "referenceAllele": "G", "start": 1353 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672314.2:c.224G>A" ], "proteinEffect": { "hgvs": "ENSP00000500828.2:p.Trp75Ter", "hgvsWellDefined": "ENSP00000500828.2:p.Trp75_Gln521delinsTyrAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914444" }, { "coordinates": [ { "allele": "A", "end": 286, "referenceAllele": "G", "start": 285 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000674679.2:c.*136G>A" ], "proteinEffect": { "hgvs": "ENSP00000501623.2:n.*136G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914455" }, { "coordinates": [ { "allele": "A", "end": 494, "referenceAllele": "G", "start": 493 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000710952.2:c.308G>A" ], "proteinEffect": { "hgvs": "ENSP00000518552.2:p.Trp103Ter", "hgvsWellDefined": "ENSP00000518552.2:p.Trp103_Gln549delinsTyrAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914573", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000710952.2:c.308G>A" }, "RefSeq": { "hgvs": "NM_001128425.2:c.308G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000518552.2:p.Trp103Ter" }, "RefSeq": { "hgvs": "NP_001121897.1:p.Trp103Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 485, "referenceAllele": "G", "start": 484 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672818.3:c.299G>A" ], "proteinEffect": { "hgvs": "ENSP00000500891.1:p.Trp100Ter", "hgvsWellDefined": "ENSP00000500891.1:p.Trp100_Gln546delinsTyrAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS826866" }, { "coordinates": [ { "allele": "A", "end": 453, "referenceAllele": "G", "start": 452 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000450313.6:c.308G>A" ], "proteinEffect": { "hgvs": "ENSP00000408176.2:p.Trp103Ter", "hgvsWellDefined": "ENSP00000408176.2:p.Trp103_Cys226delinsTyrAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaGluValAlaTyrThrAlaGlyProGlyGlnCysPheProGlyGlyGlyGluSerThrLeuGlyTrpProGlyLeuLeuPheSerTrpProAlaAlaAlaGlyGlySerSerGluGlyGlyArgGlyAlaArgGlyProHisAlaThrTyrSerArgAspProAlaAlaAlaProAlaTrpArgGlyAlaLeuHisSerTrpGlyHisCysLeuTyrArgLeuTrpProGlyAsnArgCysGlyGlyTrpGlnArgSerThrGlyAlaValProCysProSerHisTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS756282" }, { "coordinates": [ { "allele": "A", "end": 302, "referenceAllele": "G", "start": 301 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000456914.7:c.224G>A" ], "proteinEffect": { "hgvs": "ENSP00000407590.2:p.Trp75Ter", "hgvsWellDefined": "ENSP00000407590.2:p.Trp75_Gln521delinsTyrAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS756574", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000456914.7:c.224G>A" }, "RefSeq": { "hgvs": "NM_001048174.2:c.224G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000407590.2:p.Trp75Ter" }, "RefSeq": { "hgvs": "NP_001041639.1:p.Trp75Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 362, "referenceAllele": "G", "start": 361 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000461495.6:c.*37G>A" ], "proteinEffect": { "hgvs": "ENSP00000437166.1:n.*37G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS756715" }, { "coordinates": [ { "allele": "A", "end": 244, "referenceAllele": "G", "start": 243 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000671856.1:n.244G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773188" }, { "coordinates": [ { "allele": "A", "end": 1202, "referenceAllele": "G", "start": 1201 } ], "hgvs": [ "ENST00000671898.1:c.812G>A" ], "proteinEffect": { "hgvs": "ENSP00000499896.1:p.Trp271Ter", "hgvsWellDefined": "ENSP00000499896.1:p.Trp271_Met674delinsTyrAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773205" }, { "coordinates": [ { "allele": "A", "end": 905, "referenceAllele": "G", "start": 904 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672011.1:c.266G>A" ], "proteinEffect": { "hgvs": "ENSP00000500418.1:p.Trp89Ter", "hgvsWellDefined": "ENSP00000500418.1:p.Trp89_Cys212delinsTyrAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaGluValAlaTyrThrAlaGlyProGlyGlnCysPheProGlyGlyGlyGluSerThrLeuGlyTrpProGlyLeuLeuPheSerTrpProAlaAlaAlaGlyGlySerSerGluGlyGlyArgGlyAlaArgGlyProHisAlaThrTyrSerArgAspProAlaAlaAlaProAlaTrpArgGlyAlaLeuHisSerTrpGlyHisCysLeuTyrArgLeuTrpProGlyAsnArgCysGlyGlyTrpGlnArgSerThrGlyAlaValProCysProSerHisTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773239" }, { "coordinates": [ { "allele": "A", "end": 1354, "referenceAllele": "G", "start": 1353 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672314.1:c.224G>A" ], "proteinEffect": { "hgvs": "ENSP00000500828.1:p.Trp75Ter", "hgvsWellDefined": "ENSP00000500828.1:p.Trp75_Phe466del" }, "referenceSequence": "http://reg.genome.network/refseq/RS773342" }, { "coordinates": [ { "allele": "A", "end": 621, "referenceAllele": "G", "start": 620 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672593.1:c.*37G>A" ], "proteinEffect": { "hgvs": "ENSP00000500455.1:n.*37G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773427" }, { "coordinates": [ { "allele": "A", "end": 372, "referenceAllele": "G", "start": 371 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672764.1:c.257G>A" ], "proteinEffect": { "hgvs": "ENSP00000500886.1:p.Trp86Ter", "hgvsWellDefined": "ENSP00000500886.1:p.Trp86_Cys209delinsTyrAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaGluValAlaTyrThrAlaGlyProGlyGlnCysPheProGlyGlyGlyGluSerThrLeuGlyTrpProGlyLeuLeuPheSerTrpProAlaAlaAlaGlyGlySerSerGluGlyGlyArgGlyAlaArgGlyProHisAlaThrTyrSerArgAspProAlaAlaAlaProAlaTrpArgGlyAlaLeuHisSerTrpGlyHisCysLeuTyrArgLeuTrpProGlyAsnArgCysGlyGlyTrpGlnArgSerThrGlyAlaValProCysProSerHisTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773483" }, { "coordinates": [ { "allele": "A", "end": 433, "referenceAllele": "G", "start": 432 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672818.2:c.299G>A" ], "proteinEffect": { "hgvs": "ENSP00000500891.1:p.Trp100Ter", "hgvsWellDefined": "ENSP00000500891.1:p.Trp100_Gln546delinsTyrAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773501" }, { "coordinates": [ { "allele": "A", "end": 202, "referenceAllele": "G", "start": 201 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000673134.1:c.*37G>A" ], "proteinEffect": { "hgvs": "ENSP00000500526.1:n.*37G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773595" }, { "coordinates": [ { "allele": "A", "end": 252, "referenceAllele": "G", "start": 251 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000674679.1:c.252G>A" ], "proteinEffect": { "hgvs": "ENSP00000501623.1:n.252G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS774613" }, { "coordinates": [ { "allele": "A", "end": 338, "referenceAllele": "G", "start": 337 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000354383.10:c.227G>A" ], "proteinEffect": { "hgvs": "ENSP00000346354.6:p.Trp76Ter", "hgvsWellDefined": "ENSP00000346354.6:p.Trp76_Gln522delinsTyrAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247302" }, { "coordinates": [ { "allele": "A", "end": 370, "referenceAllele": "G", "start": 369 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000355498.6:c.224G>A" ], "proteinEffect": { "hgvs": "ENSP00000347685.2:p.Trp75Ter", "hgvsWellDefined": "ENSP00000347685.2:p.Trp75_Gln521delinsTyrAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247152" }, { "coordinates": [ { "allele": "A", "end": 433, "referenceAllele": "G", "start": 432 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372098.7:c.299G>A" ], "proteinEffect": { "hgvs": "ENSP00000361170.3:p.Trp100Ter", "hgvsWellDefined": "ENSP00000361170.3:p.Trp100_Gln546delinsTyrAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247324" }, { "coordinates": [ { "allele": "A", "end": 417, "referenceAllele": "G", "start": 416 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372104.5:c.224G>A" ], "proteinEffect": { "hgvs": "ENSP00000361176.1:p.Trp75Ter", "hgvsWellDefined": "ENSP00000361176.1:p.Trp75_Gln521delinsTyrAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247419" }, { "coordinates": [ { "allele": "A", "end": 403, "referenceAllele": "G", "start": 402 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372110.7:c.269G>A" ], "proteinEffect": { "hgvs": "ENSP00000361182.3:p.Trp90Ter", "hgvsWellDefined": "ENSP00000361182.3:p.Trp90_Gln536delinsTyrAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247212" }, { "coordinates": [ { "allele": "A", "end": 482, "referenceAllele": "G", "start": 481 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372115.7:c.266G>A" ], "proteinEffect": { "hgvs": "ENSP00000361187.3:p.Trp89Ter", "hgvsWellDefined": "ENSP00000361187.3:p.Trp89_Gln535delinsTyrAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" 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"ENSP00000409718.1:p.Trp86_Gln532delinsTyrAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS246647" }, { "coordinates": [ { "allele": "A", "end": 524, "referenceAllele": "G", "start": 523 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000450313.5:c.308G>A" ], "proteinEffect": { "hgvs": "ENSP00000408176.1:p.Trp103Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS247417" }, { "coordinates": [ { "allele": "A", "end": 286, "referenceAllele": "G", "start": 285 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000456914.6:c.224G>A" ], "proteinEffect": { "hgvs": "ENSP00000407590.2:p.Trp75Ter", "hgvsWellDefined": 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"startIntronDirection": "-", "startIntronOffset": 619 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000488731.6:c.116-619G>A" ], "proteinEffect": { "hgvs": "ENSP00000432330.1:n.116-619G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS247146" }, { "coordinates": [ { "allele": "A", "end": 287, "referenceAllele": "G", "start": 286 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000492494.5:n.287G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS329864" }, { "coordinates": [ { "allele": "A", "end": 317, "endIntronDirection": "-", "endIntronOffset": 128, "referenceAllele": "G", "start": 317, "startIntronDirection": "-", "startIntronOffset": 129 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000525160.5:c.158-129G>A" ], "proteinEffect": { "hgvs": "ENSP00000431568.1:n.158-129G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS351225" }, { "coordinates": [ { "allele": "A", "end": 320, "referenceAllele": "G", "start": 319 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000528013.6:c.266G>A" ], "proteinEffect": { "hgvs": "ENSP00000433130.2:p.Trp89Ter", "hgvsWellDefined": "ENSP00000433130.2:p.Trp89_Gln535delinsTyrAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247200" }, { "coordinates": [ { "allele": "A", "end": 350, "endIntronDirection": "-", "endIntronOffset": 618, "referenceAllele": "G", "start": 350, "startIntronDirection": "-", "startIntronOffset": 619 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000529984.5:c.116-619G>A" ], "proteinEffect": { "hgvs": "ENSP00000437093.1:n.116-619G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS247331" }, { "coordinates": [ { "allele": "A", "end": 309, "endIntronDirection": "+", "endIntronOffset": 938, "referenceAllele": "G", "start": 309, "startIntronDirection": "+", "startIntronOffset": 937 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000531105.5:c.115+938G>A" ], "proteinEffect": { "hgvs": "ENSP00000431292.1:n.115+938G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS246639" }, { "coordinates": [ { "allele": "A", "end": 121, "endIntronDirection": "-", "endIntronOffset": 765, "referenceAllele": "G", "start": 121, "startIntronDirection": "-", "startIntronOffset": 766 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000533178.5:c.122-766G>A" ], "proteinEffect": { "hgvs": "ENSP00000436430.1:n.122-766G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS357989" }, { "@id": "http://reg.genome.network/allele/PA658677156", "coordinates": [ { "allele": "A", "end": 482, "referenceAllele": "G", "start": 481 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048171.1:c.266G>A" ], "proteinEffect": { "hgvs": "NP_001041636.1:p.Trp89Ter", "hgvsWellDefined": "NP_001041636.1:p.Trp89_Gln535delinsTyrAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009856" }, { "@id": "http://reg.genome.network/allele/PA2825427630", "coordinates": [ { "allele": "A", "end": 373, "referenceAllele": "G", "start": 372 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048172.1:c.227G>A" ], "proteinEffect": { "hgvs": "NP_001041637.1:p.Trp76Ter", "hgvsWellDefined": "NP_001041637.1:p.Trp76_Gln522delinsTyrAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009857" }, { "@id": "http://reg.genome.network/allele/PA2825429236", "coordinates": [ { "allele": "A", "end": 370, "referenceAllele": "G", "start": 369 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048173.1:c.224G>A" ], "proteinEffect": { "hgvs": "NP_001041638.1:p.Trp75Ter", "hgvsWellDefined": "NP_001041638.1:p.Trp75_Gln521delinsTyrAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009858" }, { "@id": "http://reg.genome.network/allele/PA2825430847", "coordinates": [ { "allele": "A", "end": 289, "referenceAllele": "G", "start": 288 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048174.1:c.224G>A" ], "proteinEffect": { "hgvs": "NP_001041639.1:p.Trp75Ter", "hgvsWellDefined": "NP_001041639.1:p.Trp75_Gln521delinsTyrAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009859" }, { "@id": "http://reg.genome.network/allele/PA190649", "coordinates": [ { "allele": "A", "end": 524, "referenceAllele": "G", "start": 523 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001128425.1:c.308G>A", "LRG_220t1:c.308G>A" ], "proteinEffect": { "hgvs": "NP_001121897.1:p.Trp103Ter", "hgvsWellDefined": "NP_001121897.1:p.Trp103_Gln549delinsTyrAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011778" }, { "@id": "http://reg.genome.network/allele/PA916018630", "coordinates": [ { "allele": "A", "end": 485, "referenceAllele": "G", "start": 484 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293190.1:c.269G>A" ], "proteinEffect": { "hgvs": "NP_001280119.1:p.Trp90Ter", "hgvsWellDefined": "NP_001280119.1:p.Trp90_Gln536delinsTyrAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024498" }, { "@id": "http://reg.genome.network/allele/PA2826824933", "coordinates": [ { "allele": "A", "end": 322, "referenceAllele": "G", "start": 321 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293191.1:c.257G>A" ], "proteinEffect": { "hgvs": "NP_001280120.1:p.Trp86Ter", "hgvsWellDefined": "NP_001280120.1:p.Trp86_Gln532delinsTyrAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024499" }, { "coordinates": [ { "allele": "A", "end": 418, "referenceAllele": "G", "start": 417 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293192.1:c.-53G>A" ], "proteinEffect": { "hgvs": "NP_001280121.1:n.-53G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS024500" }, { "@id": "http://reg.genome.network/allele/PA2826827860", "coordinates": [ { "allele": "A", "end": 439, "referenceAllele": "G", "start": 438 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293195.1:c.224G>A" ], "proteinEffect": { "hgvs": "NP_001280124.1:p.Trp75Ter", "hgvsWellDefined": "NP_001280124.1:p.Trp75_Gln521delinsTyrAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024502" }, { "coordinates": [ { "allele": "A", "end": 307, "referenceAllele": "G", "start": 306 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293196.1:c.-53G>A" ], "proteinEffect": { "hgvs": "NP_001280125.1:n.-53G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS024503" }, { "@id": "http://reg.genome.network/allele/PA2829725745", "coordinates": [ { "allele": "A", "end": 515, "referenceAllele": "G", "start": 514 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_012222.2:c.299G>A" ], "proteinEffect": { "hgvs": "NP_036354.1:p.Trp100Ter", "hgvsWellDefined": "NP_036354.1:p.Trp100_Gln546delinsTyrAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032407" }, { "coordinates": [ { "allele": "A", "end": 587, "referenceAllele": "G", "start": 586 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541497.1:c.284G>A" ], "proteinEffect": { "hgvs": "XP_011539799.1:p.Trp95Ter", "hgvsWellDefined": "XP_011539799.1:p.Trp95_Gln541delinsTyrAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108434" }, { "coordinates": [ { "allele": "A", "end": 359, "referenceAllele": "G", "start": 358 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541498.1:c.266G>A" ], "proteinEffect": { "hgvs": "XP_011539800.1:p.Trp89Ter", "hgvsWellDefined": "XP_011539800.1:p.Trp89_Gln535delinsTyrAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108435" }, { "coordinates": [ { "allele": "A", "end": 345, "referenceAllele": "G", "start": 344 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541499.1:c.266G>A" ], "proteinEffect": { "hgvs": "XP_011539801.1:p.Trp89Ter", "hgvsWellDefined": "XP_011539801.1:p.Trp89_Gln535delinsTyrAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108436" }, { "coordinates": [ { "allele": "A", "end": 522, "referenceAllele": "G", "start": 521 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541500.1:c.266G>A" ], "proteinEffect": { "hgvs": "XP_011539802.1:p.Trp89Ter", "hgvsWellDefined": "XP_011539802.1:p.Trp89_Gln535delinsTyrAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108437" }, { "coordinates": [ { "allele": "A", "end": 470, "referenceAllele": "G", "start": 469 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541501.1:c.266G>A" ], "proteinEffect": { "hgvs": "XP_011539803.1:p.Trp89Ter", "hgvsWellDefined": "XP_011539803.1:p.Trp89_Gln535delinsTyrAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108438" }, { "coordinates": [ { "allele": "A", "end": 503, "referenceAllele": "G", "start": 502 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541502.1:c.266G>A" ], "proteinEffect": { "hgvs": "XP_011539804.1:p.Trp89Ter", "hgvsWellDefined": "XP_011539804.1:p.Trp89_Gln535delinsTyrAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108439" }, { "coordinates": [ { "allele": "A", "end": 355, "referenceAllele": "G", "start": 354 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541503.1:c.308G>A" ], "proteinEffect": { "hgvs": "XP_011539805.1:p.Trp103Ter", "hgvsWellDefined": "XP_011539805.1:p.Trp103_Gln535delinsTyrAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108440" }, { "coordinates": [ { "allele": "A", "end": 379, "referenceAllele": "G", "start": 378 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541504.1:c.257G>A" ], "proteinEffect": { "hgvs": "XP_011539806.1:p.Trp86Ter", "hgvsWellDefined": "XP_011539806.1:p.Trp86_Gln532delinsTyrAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108441" }, { "coordinates": [ { "allele": "A", "end": 210, "endIntronDirection": "-", "endIntronOffset": 618, "referenceAllele": "G", "start": 210, "startIntronDirection": "-", "startIntronOffset": 619 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541505.1:c.43-619G>A" ], "proteinEffect": { "hgvs": "XP_011539807.1:n.43-619G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS108442" }, { "coordinates": [ { "allele": "A", "end": 208, "endIntronDirection": "-", "endIntronOffset": 618, "referenceAllele": "G", "start": 208, "startIntronDirection": "-", "startIntronOffset": 619 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541506.1:c.43-619G>A" ], "proteinEffect": { "hgvs": "XP_011539808.1:n.43-619G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS108443" }, { "coordinates": [ { "allele": "A", "end": 355, "referenceAllele": "G", "start": 354 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_946658.1:n.355G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS140241" }, { "coordinates": [ { "allele": "A", "end": 482, "referenceAllele": "G", "start": 481 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350650.1:c.-48G>A" ], "proteinEffect": { "hgvs": "NP_001337579.1:n.-48G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS519533" }, { "coordinates": [ { "allele": "A", "end": 418, "referenceAllele": "G", "start": 417 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350651.1:c.-48G>A" ], "proteinEffect": { "hgvs": "NP_001337580.1:n.-48G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS519534" }, { "coordinates": [ { "allele": "A", "end": 482, "referenceAllele": "G", "start": 481 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146882.1:n.482G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS530438" }, { "coordinates": [ { "allele": "A", "end": 370, "referenceAllele": "G", "start": 369 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146883.1:n.370G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS530439" }, { "coordinates": [ { "allele": "A", "end": 582, "referenceAllele": "G", "start": 581 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541497.3:c.284G>A" ], "proteinEffect": { "hgvs": "XP_011539799.1:p.Trp95Ter", "hgvsWellDefined": "XP_011539799.1:p.Trp95_Gln541delinsTyrAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554460" }, { "coordinates": [ { "allele": "A", "end": 560, "referenceAllele": "G", "start": 559 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541500.3:c.266G>A" ], "proteinEffect": { "hgvs": "XP_011539802.1:p.Trp89Ter", "hgvsWellDefined": "XP_011539802.1:p.Trp89_Gln535delinsTyrAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554461" }, { "coordinates": [ { "allele": "A", "end": 454, "referenceAllele": "G", "start": 453 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541501.2:c.266G>A" ], "proteinEffect": { "hgvs": "XP_011539803.1:p.Trp89Ter", "hgvsWellDefined": "XP_011539803.1:p.Trp89_Gln535delinsTyrAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554462" }, { "coordinates": [ { "allele": "A", "end": 359, "referenceAllele": "G", "start": 358 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541502.2:c.266G>A" ], "proteinEffect": { "hgvs": "XP_011539804.1:p.Trp89Ter", "hgvsWellDefined": "XP_011539804.1:p.Trp89_Gln535delinsTyrAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554463" }, { "coordinates": [ { "allele": "A", "end": 369, "referenceAllele": "G", "start": 368 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541503.2:c.308G>A" ], "proteinEffect": { "hgvs": "XP_011539805.1:p.Trp103Ter", "hgvsWellDefined": "XP_011539805.1:p.Trp103_Gln535delinsTyrAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554464" }, { "coordinates": [ { "allele": "A", "end": 408, "referenceAllele": "G", "start": 407 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541504.2:c.257G>A" ], "proteinEffect": { "hgvs": "XP_011539806.1:p.Trp86Ter", "hgvsWellDefined": "XP_011539806.1:p.Trp86_Gln532delinsTyrAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554465" }, { "coordinates": [ { "allele": "A", "end": 224, "endIntronDirection": "-", "endIntronOffset": 618, "referenceAllele": "G", "start": 224, "startIntronDirection": "-", "startIntronOffset": 619 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541505.2:c.43-619G>A" ], "proteinEffect": { "hgvs": "XP_011539807.1:n.43-619G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS554466" }, { "coordinates": [ { "allele": "A", "end": 266, "endIntronDirection": "-", "endIntronOffset": 618, "referenceAllele": "G", "start": 266, "startIntronDirection": "-", "startIntronOffset": 619 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541506.2:c.43-619G>A" ], "proteinEffect": { "hgvs": "XP_011539808.1:n.43-619G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS554467" }, { "coordinates": [ { "allele": "A", "end": 358, "referenceAllele": "G", "start": 357 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001331.1:c.266G>A" ], "proteinEffect": { "hgvs": "XP_016856820.1:p.Trp89Ter", "hgvsWellDefined": "XP_016856820.1:p.Trp89_Gln535delinsTyrAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557533" }, { "coordinates": [ { "allele": "A", "end": 360, "referenceAllele": "G", "start": 359 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001332.1:c.266G>A" ], "proteinEffect": { "hgvs": "XP_016856821.1:p.Trp89Ter", "hgvsWellDefined": "XP_016856821.1:p.Trp89_Gln535delinsTyrAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557534" }, { "coordinates": [ { "allele": "A", "end": 413, "referenceAllele": "G", "start": 412 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001333.1:c.266G>A" ], "proteinEffect": { "hgvs": "XP_016856822.1:p.Trp89Ter", "hgvsWellDefined": "XP_016856822.1:p.Trp89_Gln535delinsTyrAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557535" }, { "coordinates": [ { "allele": "A", "end": 306, "referenceAllele": "G", "start": 305 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001334.1:c.227G>A" ], "proteinEffect": { "hgvs": "XP_016856823.1:p.Trp76Ter", "hgvsWellDefined": "XP_016856823.1:p.Trp76_Gln522delinsTyrAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557536" }, { "coordinates": [ { "allele": "A", "end": 252, "referenceAllele": "G", "start": 251 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001335.1:c.-53G>A" ], "proteinEffect": { "hgvs": "XP_016856824.1:n.-53G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS557537" }, { "coordinates": [ { "allele": "A", "end": 410, "referenceAllele": "G", "start": 409 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001336.1:c.-48G>A" ], "proteinEffect": { "hgvs": "XP_016856825.1:n.-48G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS557538" }, { "coordinates": [ { "allele": "A", "end": 350, "referenceAllele": "G", "start": 349 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001337.1:c.-48G>A" ], "proteinEffect": { "hgvs": "XP_016856826.1:n.-48G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS557539" }, { "coordinates": [ { "allele": "A", "end": 375, "referenceAllele": "G", "start": 374 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447244.1:c.-48G>A" ], "proteinEffect": { "hgvs": "XP_024303012.1:n.-48G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS580832" }, { "coordinates": [ { "allele": "A", "end": 320, "referenceAllele": "G", "start": 319 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447245.1:c.-48G>A" ], "proteinEffect": { "hgvs": "XP_024303013.1:n.-48G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS580833" }, { "coordinates": [ { "allele": "A", "end": 333, "referenceAllele": "G", "start": 332 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447248.1:c.-48G>A" ], "proteinEffect": { "hgvs": "XP_024303016.1:n.-48G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS580836" }, { "coordinates": [ { "allele": "A", "end": 318, "referenceAllele": "G", "start": 317 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447249.1:c.-544G>A" ], "proteinEffect": { "hgvs": "XP_024303017.1:n.-544G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS580837" }, { "coordinates": [ { "allele": "A", "end": 319, "referenceAllele": "G", "start": 318 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447250.1:c.-544G>A" ], "proteinEffect": { "hgvs": "XP_024303018.1:n.-544G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS580838" }, { "coordinates": [ { "allele": "A", "end": 195, "referenceAllele": "G", "start": 194 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447251.1:c.-302G>A" ], "proteinEffect": { "hgvs": "XP_024303019.1:n.-302G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS580839" }, { "coordinates": [ { "allele": "A", "end": 269, "referenceAllele": "G", "start": 268 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_001737190.1:n.269G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS587991" }, { "coordinates": [ { "allele": "A", "end": 197, "referenceAllele": "G", "start": 196 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_001737192.1:n.197G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS587992" }, { "coordinates": [ { "allele": "A", "end": 377, "referenceAllele": "G", "start": 376 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_002956643.1:n.377G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS602781" }, { "coordinates": [ { "allele": "A", "end": 462, "referenceAllele": "G", "start": 461 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_002956644.1:n.462G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS602782" }, { "coordinates": [ { "allele": "A", "end": 369, "referenceAllele": "G", "start": 368 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_946658.2:n.369G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS614413" }, { "@id": "http://reg.genome.network/allele/PA2825426014", "coordinates": [ { "allele": "A", "end": 452, "referenceAllele": "G", "start": 451 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048171.2:c.224G>A" ], "proteinEffect": { "hgvs": "NP_001041636.2:p.Trp75Ter", "hgvsWellDefined": "NP_001041636.2:p.Trp75_Gln521delinsTyrAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676107" }, { "@id": "http://reg.genome.network/allele/PA190649", "coordinates": [ { "allele": "A", "end": 494, "referenceAllele": "G", "start": 493 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001128425.2:c.308G>A" ], "proteinEffect": { "hgvs": "NP_001121897.1:p.Trp103Ter", "hgvsWellDefined": "NP_001121897.1:p.Trp103_Gln549delinsTyrAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676985", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000710952.2:c.308G>A" }, "RefSeq": { "hgvs": "NM_001128425.2:c.308G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000518552.2:p.Trp103Ter" }, "RefSeq": { "hgvs": "NP_001121897.1:p.Trp103Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825427630", "coordinates": [ { "allele": "A", "end": 378, "referenceAllele": "G", "start": 377 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048172.2:c.227G>A" ], "proteinEffect": { "hgvs": "NP_001041637.1:p.Trp76Ter", "hgvsWellDefined": "NP_001041637.1:p.Trp76_Gln522delinsTyrAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711730" }, { "@id": "http://reg.genome.network/allele/PA2825429236", "coordinates": [ { "allele": "A", "end": 375, "referenceAllele": "G", "start": 374 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048173.2:c.224G>A" ], "proteinEffect": { "hgvs": "NP_001041638.1:p.Trp75Ter", "hgvsWellDefined": "NP_001041638.1:p.Trp75_Gln521delinsTyrAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711731" }, { "@id": "http://reg.genome.network/allele/PA2825430847", "coordinates": [ { "allele": "A", "end": 302, "referenceAllele": "G", "start": 301 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048174.2:c.224G>A" ], "proteinEffect": { "hgvs": "NP_001041639.1:p.Trp75Ter", "hgvsWellDefined": "NP_001041639.1:p.Trp75_Gln521delinsTyrAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711732", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000456914.7:c.224G>A" }, "RefSeq": { "hgvs": "NM_001048174.2:c.224G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000407590.2:p.Trp75Ter" }, "RefSeq": { "hgvs": "NP_001041639.1:p.Trp75Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA916018630", "coordinates": [ { "allele": "A", "end": 455, "referenceAllele": "G", "start": 454 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293190.2:c.269G>A" ], "proteinEffect": { "hgvs": "NP_001280119.1:p.Trp90Ter", "hgvsWellDefined": "NP_001280119.1:p.Trp90_Gln536delinsTyrAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716759" }, { "@id": "http://reg.genome.network/allele/PA2826824933", "coordinates": [ { "allele": "A", "end": 335, "referenceAllele": "G", "start": 334 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293191.2:c.257G>A" ], "proteinEffect": { "hgvs": "NP_001280120.1:p.Trp86Ter", "hgvsWellDefined": "NP_001280120.1:p.Trp86_Gln532delinsTyrAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716760" }, { "coordinates": [ { "allele": "A", "end": 388, "referenceAllele": "G", "start": 387 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293192.2:c.-53G>A" ], "proteinEffect": { "hgvs": "NP_001280121.1:n.-53G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS716761" }, { "@id": "http://reg.genome.network/allele/PA2826827860", "coordinates": [ { "allele": "A", "end": 452, "referenceAllele": "G", "start": 451 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293195.2:c.224G>A" ], "proteinEffect": { "hgvs": "NP_001280124.1:p.Trp75Ter", "hgvsWellDefined": "NP_001280124.1:p.Trp75_Gln521delinsTyrAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716762" }, { "coordinates": [ { "allele": "A", "end": 311, "referenceAllele": "G", "start": 310 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293196.2:c.-53G>A" ], "proteinEffect": { "hgvs": "NP_001280125.1:n.-53G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS716763" }, { "coordinates": [ { "allele": "A", "end": 452, "referenceAllele": "G", "start": 451 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350650.2:c.-48G>A" ], "proteinEffect": { "hgvs": "NP_001337579.1:n.-48G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS719606" }, { "coordinates": [ { "allele": "A", "end": 388, "referenceAllele": "G", "start": 387 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350651.2:c.-48G>A" ], "proteinEffect": { "hgvs": "NP_001337580.1:n.-48G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS719607" }, { "@id": "http://reg.genome.network/allele/PA2829725745", "coordinates": [ { "allele": "A", "end": 485, "referenceAllele": "G", "start": 484 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_012222.3:c.299G>A" ], "proteinEffect": { "hgvs": "NP_036354.1:p.Trp100Ter", "hgvsWellDefined": "NP_036354.1:p.Trp100_Gln546delinsTyrAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727852" }, { "coordinates": [ { "allele": "A", "end": 452, "referenceAllele": "G", "start": 451 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146882.2:n.452G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS731326" }, { "coordinates": [ { "allele": "A", "end": 375, "referenceAllele": "G", "start": 374 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146883.2:n.375G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS731327" } ], "type": "nucleotide" }