{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA340133771", "communityStandardTitle": [ "NM_001048174.2(MUTYH):c.962G>A (p.Trp321Ter)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.45797473C>T?assembly=hg19", "id": "chr1:g.45797473C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.45331801C>T?assembly=hg38", "id": "chr1:g.45331801C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1570386733", "rs": 1570386733 } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 45331801, "referenceAllele": "C", "start": 45331800 } ], "hgvs": [ "NC_000001.11:g.45331801C>T", "CM000663.2:g.45331801C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 45797473, "referenceAllele": "C", "start": 45797472 } ], "hgvs": [ "NC_000001.10:g.45797473C>T", "CM000663.1:g.45797473C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 45570060, "referenceAllele": "C", "start": 45570059 } ], "hgvs": [ "NC_000001.9:g.45570060C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "A", "end": 13670, "referenceAllele": "G", "start": 13669 } ], "hgvs": [ "NG_008189.1:g.13670G>A", "LRG_220:g.13670G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000931" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 705, "referenceAllele": "G", "start": 704 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000412971.6:c.578G>A" ], "proteinEffect": { "hgvs": "ENSP00000410263.2:p.Trp193Ter", "hgvsWellDefined": "ENSP00000410263.2:p.Trp193_Gln393delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914025" }, { "coordinates": [ { "allele": "A", "end": 1146, "referenceAllele": "G", "start": 1145 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000435155.2:c.995G>A" ], "proteinEffect": { "hgvs": "ENSP00000403655.2:p.Trp332Ter", "hgvsWellDefined": "ENSP00000403655.2:p.Trp332_Gln532delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914061" }, { "coordinates": [ { "allele": "A", "end": 1063, "referenceAllele": "G", "start": 1062 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000467459.6:c.985G>A" ], "proteinEffect": { "hgvs": "ENSP00000435889.2:p.Gly329Arg", "hgvsWellDefined": "ENSP00000435889.2:p.Gly329Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS914113" }, { "coordinates": [ { "allele": "A", "end": 1486, "referenceAllele": "G", "start": 1485 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000483127.2:c.980G>A" ], "proteinEffect": { "hgvs": "ENSP00000436469.2:p.Trp327Ter", "hgvsWellDefined": "ENSP00000436469.2:p.Trp327_Gln527delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914139" }, { "coordinates": [ { "allele": "A", "end": 1014, "referenceAllele": "G", "start": 1013 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000485271.6:c.962G>A" ], "proteinEffect": { "hgvs": "ENSP00000431264.2:p.Trp321Ter", "hgvsWellDefined": "ENSP00000431264.2:p.Trp321_Met478delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914144" }, { "coordinates": [ { "allele": "A", "end": 1116, "endIntronDirection": "+", "endIntronOffset": 222, "referenceAllele": "G", "start": 1116, "startIntronDirection": "+", "startIntronOffset": 221 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000529892.6:c.955+222G>A" ], "proteinEffect": { "hgvs": "ENSP00000432528.2:n.955+222G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914235" }, { "coordinates": [ { "allele": "A", "end": 591, "referenceAllele": "G", "start": 590 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000533178.6:c.*291G>A" ], "proteinEffect": { "hgvs": "ENSP00000436430.2:n.*291G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914245" }, { "coordinates": [ { "allele": "A", "end": 2092, "referenceAllele": "G", "start": 2091 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672314.2:c.962G>A" ], "proteinEffect": { "hgvs": "ENSP00000500828.2:p.Trp321Ter", "hgvsWellDefined": "ENSP00000500828.2:p.Trp321_Gln521delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914444" }, { "coordinates": [ { "allele": "A", "end": 1232, "referenceAllele": "G", "start": 1231 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000710952.2:c.1046G>A" ], "proteinEffect": { "hgvs": "ENSP00000518552.2:p.Trp349Ter", "hgvsWellDefined": "ENSP00000518552.2:p.Trp349_Gln549delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914573", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000710952.2:c.1046G>A" }, "RefSeq": { "hgvs": "NM_001128425.2:c.1046G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000518552.2:p.Trp349Ter" }, "RefSeq": { "hgvs": "NP_001121897.1:p.Trp349Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1223, "referenceAllele": "G", "start": 1222 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672818.3:c.1037G>A" ], "proteinEffect": { "hgvs": "ENSP00000500891.1:p.Trp346Ter", "hgvsWellDefined": "ENSP00000500891.1:p.Trp346_Gln546delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS826866" }, { "coordinates": [ { "allele": "A", "end": 1040, "referenceAllele": "G", "start": 1039 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000456914.7:c.962G>A" ], "proteinEffect": { "hgvs": "ENSP00000407590.2:p.Trp321Ter", "hgvsWellDefined": "ENSP00000407590.2:p.Trp321_Gln521delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS756574", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000456914.7:c.962G>A" }, "RefSeq": { "hgvs": "NM_001048174.2:c.962G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000407590.2:p.Trp321Ter" }, "RefSeq": { "hgvs": "NP_001041639.1:p.Trp321Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1940, "referenceAllele": "G", "start": 1939 } ], "hgvs": [ "ENST00000671898.1:c.1550G>A" ], "proteinEffect": { "hgvs": "ENSP00000499896.1:p.Trp517Ter", "hgvsWellDefined": "ENSP00000499896.1:p.Trp517_Met674delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773205" }, { "coordinates": [ { "allele": "A", "end": 1569, "referenceAllele": "G", "start": 1568 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672011.1:c.*291G>A" ], "proteinEffect": { "hgvs": "ENSP00000500418.1:n.*291G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773239" }, { "coordinates": [ { "allele": "A", "end": 2092, "referenceAllele": "G", "start": 2091 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672314.1:c.962G>A" ], "proteinEffect": { "hgvs": "ENSP00000500828.1:p.Trp321Ter", "hgvsWellDefined": "ENSP00000500828.1:p.Trp321_Phe466del" }, "referenceSequence": "http://reg.genome.network/refseq/RS773342" }, { "coordinates": [ { "allele": "A", "end": 1772, "referenceAllele": "G", "start": 1771 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672593.1:c.*1188G>A" ], "proteinEffect": { "hgvs": "ENSP00000500455.1:n.*1188G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773427" }, { "coordinates": [ { "allele": "A", "end": 1036, "referenceAllele": "G", "start": 1035 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672764.1:c.*291G>A" ], "proteinEffect": { "hgvs": "ENSP00000500886.1:n.*291G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773483" }, { "coordinates": [ { "allele": "A", "end": 1171, "referenceAllele": "G", "start": 1170 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672818.2:c.1037G>A" ], "proteinEffect": { "hgvs": "ENSP00000500891.1:p.Trp346Ter", "hgvsWellDefined": "ENSP00000500891.1:p.Trp346_Gln546delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773501" }, { "coordinates": [ { "allele": "A", "end": 824, "referenceAllele": "G", "start": 823 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000673134.1:c.*659G>A" ], "proteinEffect": { "hgvs": "ENSP00000500526.1:n.*659G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773595" }, { "coordinates": [ { "allele": "A", "end": 1076, "referenceAllele": "G", "start": 1075 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000354383.10:c.965G>A" ], "proteinEffect": { "hgvs": "ENSP00000346354.6:p.Trp322Ter", "hgvsWellDefined": "ENSP00000346354.6:p.Trp322_Gln522delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247302" }, { "coordinates": [ { "allele": "A", "end": 1108, "referenceAllele": "G", "start": 1107 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000355498.6:c.962G>A" ], "proteinEffect": { "hgvs": "ENSP00000347685.2:p.Trp321Ter", "hgvsWellDefined": "ENSP00000347685.2:p.Trp321_Gln521delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247152" }, { "coordinates": [ { "allele": "A", "end": 1171, "referenceAllele": "G", "start": 1170 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372098.7:c.1037G>A" ], "proteinEffect": { "hgvs": "ENSP00000361170.3:p.Trp346Ter", "hgvsWellDefined": "ENSP00000361170.3:p.Trp346_Gln546delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247324" }, { "coordinates": [ { "allele": "A", "end": 1155, "referenceAllele": "G", "start": 1154 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372104.5:c.962G>A" ], "proteinEffect": { "hgvs": "ENSP00000361176.1:p.Trp321Ter", "hgvsWellDefined": "ENSP00000361176.1:p.Trp321_Gln521delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247419" }, { "coordinates": [ { "allele": "A", "end": 1141, "referenceAllele": "G", "start": 1140 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372110.7:c.1007G>A" ], "proteinEffect": { "hgvs": "ENSP00000361182.3:p.Trp336Ter", "hgvsWellDefined": "ENSP00000361182.3:p.Trp336_Gln536delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247212" }, { "coordinates": [ { "allele": "A", "end": 1220, "referenceAllele": "G", "start": 1219 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372115.7:c.1004G>A" ], "proteinEffect": { "hgvs": "ENSP00000361187.3:p.Trp335Ter", "hgvsWellDefined": "ENSP00000361187.3:p.Trp335_Gln535delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247144" }, { "coordinates": [ { "allele": "A", "end": 705, "referenceAllele": "G", "start": 704 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000412971.5:c.578G>A" ], "proteinEffect": { "hgvs": "ENSP00000410263.1:p.Trp193Ter", "hgvsWellDefined": "ENSP00000410263.1:p.Trp193_Ser215del" }, "referenceSequence": "http://reg.genome.network/refseq/RS247381" }, { "coordinates": [ { "allele": "A", "end": 1038, "referenceAllele": "G", "start": 1037 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000448481.5:c.995G>A" ], "proteinEffect": { "hgvs": "ENSP00000409718.1:p.Trp332Ter", "hgvsWellDefined": "ENSP00000409718.1:p.Trp332_Gln532delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS246647" }, { "coordinates": [ { "allele": "A", "end": 1262, "referenceAllele": "G", "start": 1261 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000450313.5:c.1046G>A" ], "proteinEffect": { "hgvs": "ENSP00000408176.1:p.Trp349Ter", "hgvsWellDefined": "ENSP00000408176.1:p.Trp349_Gln549delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247417" }, { "coordinates": [ { "allele": "A", "end": 1024, "referenceAllele": "G", "start": 1023 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000456914.6:c.962G>A" ], "proteinEffect": { "hgvs": "ENSP00000407590.2:p.Trp321Ter", "hgvsWellDefined": "ENSP00000407590.2:p.Trp321_Gln521delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247236" }, { "coordinates": [ { "allele": "A", "end": 826, "referenceAllele": "G", "start": 825 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000462388.5:n.826G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS306657" }, { "coordinates": [ { "allele": "A", "end": 327, "referenceAllele": "G", "start": 326 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000466231.1:n.327G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS309653" }, { "coordinates": [ { "allele": "A", "end": 379, "referenceAllele": "G", "start": 378 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000467459.5:c.379G>A" ], "proteinEffect": { "hgvs": "ENSP00000435889.1:p.Gly127Arg", "hgvsWellDefined": "ENSP00000435889.1:p.Gly127Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS310589" }, { "coordinates": [ { "allele": "A", "end": 1009, "referenceAllele": "G", "start": 1008 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000475516.5:c.*775G>A" ], "proteinEffect": { "hgvs": "ENSP00000433843.1:n.*775G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS316785" }, { "coordinates": [ { "allele": "A", "end": 1074, "referenceAllele": "G", "start": 1073 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000481571.5:c.*775G>A" ], "proteinEffect": { "hgvs": "ENSP00000436597.1:n.*775G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS321455" }, { "coordinates": [ { "allele": "A", "end": 283, "referenceAllele": "G", "start": 282 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000482094.5:n.283G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS321874" }, { "coordinates": [ { "allele": "A", "end": 213, "endIntronDirection": "-", "endIntronOffset": 244, "referenceAllele": "G", "start": 213, "startIntronDirection": "-", "startIntronOffset": 245 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000488731.6:c.188-245G>A" ], "proteinEffect": { "hgvs": "ENSP00000432330.1:n.188-245G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS247146" }, { "coordinates": [ { "allele": "A", "end": 1058, "referenceAllele": "G", "start": 1057 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000528013.6:c.1004G>A" ], "proteinEffect": { "hgvs": "ENSP00000433130.2:p.Trp335Ter", "hgvsWellDefined": "ENSP00000433130.2:p.Trp335_Gln535delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247200" }, { "coordinates": [ { "allele": "A", "end": 177, "endIntronDirection": "+", "endIntronOffset": 222, "referenceAllele": "G", "start": 177, "startIntronDirection": "+", "startIntronOffset": 221 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000529892.5:c.177+222G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS247332" }, { "coordinates": [ { "allele": "A", "end": 422, "endIntronDirection": "-", "endIntronOffset": 244, "referenceAllele": "G", "start": 422, "startIntronDirection": "-", "startIntronOffset": 245 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000529984.5:c.188-245G>A" ], "proteinEffect": { "hgvs": "ENSP00000437093.1:n.188-245G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS247331" }, { "coordinates": [ { "allele": "A", "end": 309, "endIntronDirection": "-", "endIntronOffset": 2363, "referenceAllele": "G", "start": 309, "startIntronDirection": "-", "startIntronOffset": 2364 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000531105.5:c.116-2364G>A" ], "proteinEffect": { "hgvs": "ENSP00000431292.1:n.116-2364G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS246639" }, { "coordinates": [ { "allele": "A", "end": 591, "referenceAllele": "G", "start": 590 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000533178.5:c.591G>A" ], "proteinEffect": { "hgvs": "ENSP00000436430.1:n.591G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS357989" }, { "coordinates": [ { "allele": "A", "end": 1220, "referenceAllele": "G", "start": 1219 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048171.1:c.1004G>A" ], "proteinEffect": { "hgvs": "NP_001041636.1:p.Trp335Ter", "hgvsWellDefined": "NP_001041636.1:p.Trp335_Gln535delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009856" }, { "@id": "http://reg.genome.network/allele/PA2825428384", "coordinates": [ { "allele": "A", "end": 1111, "referenceAllele": "G", "start": 1110 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048172.1:c.965G>A" ], "proteinEffect": { "hgvs": "NP_001041637.1:p.Trp322Ter", "hgvsWellDefined": "NP_001041637.1:p.Trp322_Gln522delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009857" }, { "@id": "http://reg.genome.network/allele/PA2825429996", "coordinates": [ { "allele": "A", "end": 1108, "referenceAllele": "G", "start": 1107 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048173.1:c.962G>A" ], "proteinEffect": { "hgvs": "NP_001041638.1:p.Trp321Ter", "hgvsWellDefined": "NP_001041638.1:p.Trp321_Gln521delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009858" }, { "@id": "http://reg.genome.network/allele/PA2825431607", "coordinates": [ { "allele": "A", "end": 1027, "referenceAllele": "G", "start": 1026 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048174.1:c.962G>A" ], "proteinEffect": { "hgvs": "NP_001041639.1:p.Trp321Ter", "hgvsWellDefined": "NP_001041639.1:p.Trp321_Gln521delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009859" }, { "@id": "http://reg.genome.network/allele/PA645453290", "coordinates": [ { "allele": "A", "end": 1262, "referenceAllele": "G", "start": 1261 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001128425.1:c.1046G>A", "LRG_220t1:c.1046G>A" ], "proteinEffect": { "hgvs": "NP_001121897.1:p.Trp349Ter", "hgvsWellDefined": "NP_001121897.1:p.Trp349_Gln549delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011778" }, { "@id": "http://reg.genome.network/allele/PA2826824044", "coordinates": [ { "allele": "A", "end": 1223, "referenceAllele": "G", "start": 1222 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293190.1:c.1007G>A" ], "proteinEffect": { "hgvs": "NP_001280119.1:p.Trp336Ter", "hgvsWellDefined": "NP_001280119.1:p.Trp336_Gln536delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024498" }, { "@id": "http://reg.genome.network/allele/PA2826825685", "coordinates": [ { "allele": "A", "end": 1060, "referenceAllele": "G", "start": 1059 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293191.1:c.995G>A" ], "proteinEffect": { "hgvs": "NP_001280120.1:p.Trp332Ter", "hgvsWellDefined": "NP_001280120.1:p.Trp332_Gln532delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024499" }, { "@id": "http://reg.genome.network/allele/PA2826827017", "coordinates": [ { "allele": "A", "end": 1156, "referenceAllele": "G", "start": 1155 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293192.1:c.686G>A" ], "proteinEffect": { "hgvs": "NP_001280121.1:p.Trp229Ter", "hgvsWellDefined": "NP_001280121.1:p.Trp229_Gln429delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024500" }, { "@id": "http://reg.genome.network/allele/PA2826828621", "coordinates": [ { "allele": "A", "end": 1177, "referenceAllele": "G", "start": 1176 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293195.1:c.962G>A" ], "proteinEffect": { "hgvs": "NP_001280124.1:p.Trp321Ter", "hgvsWellDefined": "NP_001280124.1:p.Trp321_Gln521delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024502" }, { "@id": "http://reg.genome.network/allele/PA2826829797", "coordinates": [ { "allele": "A", "end": 1045, "referenceAllele": "G", "start": 1044 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293196.1:c.686G>A" ], "proteinEffect": { "hgvs": "NP_001280125.1:p.Trp229Ter", "hgvsWellDefined": "NP_001280125.1:p.Trp229_Gln429delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024503" }, { "@id": "http://reg.genome.network/allele/PA2829726495", "coordinates": [ { "allele": "A", "end": 1253, "referenceAllele": "G", "start": 1252 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_012222.2:c.1037G>A" ], "proteinEffect": { "hgvs": "NP_036354.1:p.Trp346Ter", "hgvsWellDefined": "NP_036354.1:p.Trp346_Gln546delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032407" }, { "coordinates": [ { "allele": "A", "end": 1325, "referenceAllele": "G", "start": 1324 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541497.1:c.1022G>A" ], "proteinEffect": { "hgvs": "XP_011539799.1:p.Trp341Ter", "hgvsWellDefined": "XP_011539799.1:p.Trp341_Gln541delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108434" }, { "coordinates": [ { "allele": "A", "end": 1097, "referenceAllele": "G", "start": 1096 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541498.1:c.1004G>A" ], "proteinEffect": { "hgvs": "XP_011539800.1:p.Trp335Ter", "hgvsWellDefined": "XP_011539800.1:p.Trp335_Gln535delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108435" }, { "coordinates": [ { "allele": "A", "end": 1083, "referenceAllele": "G", "start": 1082 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541499.1:c.1004G>A" ], "proteinEffect": { "hgvs": "XP_011539801.1:p.Trp335Ter", "hgvsWellDefined": "XP_011539801.1:p.Trp335_Gln535delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108436" }, { "coordinates": [ { "allele": "A", "end": 1260, "referenceAllele": "G", "start": 1259 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541500.1:c.1004G>A" ], "proteinEffect": { "hgvs": "XP_011539802.1:p.Trp335Ter", "hgvsWellDefined": "XP_011539802.1:p.Trp335_Gln535delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108437" }, { "coordinates": [ { "allele": "A", "end": 1208, "referenceAllele": "G", "start": 1207 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541501.1:c.1004G>A" ], "proteinEffect": { "hgvs": "XP_011539803.1:p.Trp335Ter", "hgvsWellDefined": "XP_011539803.1:p.Trp335_Gln535delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108438" }, { "coordinates": [ { "allele": "A", "end": 1241, "referenceAllele": "G", "start": 1240 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541502.1:c.1004G>A" ], "proteinEffect": { "hgvs": "XP_011539804.1:p.Trp335Ter", "hgvsWellDefined": "XP_011539804.1:p.Trp335_Gln535delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108439" }, { "coordinates": [ { "allele": "A", "end": 1051, "referenceAllele": "G", "start": 1050 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541503.1:c.1004G>A" ], "proteinEffect": { "hgvs": "XP_011539805.1:p.Trp335Ter", "hgvsWellDefined": "XP_011539805.1:p.Trp335_Gln535delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108440" }, { "coordinates": [ { "allele": "A", "end": 1117, "referenceAllele": "G", "start": 1116 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541504.1:c.995G>A" ], "proteinEffect": { "hgvs": "XP_011539806.1:p.Trp332Ter", "hgvsWellDefined": "XP_011539806.1:p.Trp332_Gln532delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108441" }, { "coordinates": [ { "allele": "A", "end": 752, "referenceAllele": "G", "start": 751 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541505.1:c.584G>A" ], "proteinEffect": { "hgvs": "XP_011539807.1:p.Trp195Ter", "hgvsWellDefined": "XP_011539807.1:p.Trp195_Gln395delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108442" }, { "coordinates": [ { "allele": "A", "end": 750, "referenceAllele": "G", "start": 749 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541506.1:c.584G>A" ], "proteinEffect": { "hgvs": "XP_011539808.1:p.Trp195Ter", "hgvsWellDefined": "XP_011539808.1:p.Trp195_Gln395delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108443" }, { "coordinates": [ { "allele": "A", "end": 582, "referenceAllele": "G", "start": 581 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541507.1:c.575G>A" ], "proteinEffect": { "hgvs": "XP_011539809.1:p.Trp192Ter", "hgvsWellDefined": "XP_011539809.1:p.Trp192_Gln392delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108444" }, { "coordinates": [ { "allele": "A", "end": 615, "referenceAllele": "G", "start": 614 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541508.1:c.590G>A" ], "proteinEffect": { "hgvs": "XP_011539810.1:p.Trp197Ter", "hgvsWellDefined": "XP_011539810.1:p.Trp197_Gln397delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108445" }, { "coordinates": [ { "allele": "A", "end": 1093, "referenceAllele": "G", "start": 1092 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_946658.1:n.1093G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS140241" }, { "@id": "http://reg.genome.network/allele/PA2827556970", "coordinates": [ { "allele": "A", "end": 1146, "referenceAllele": "G", "start": 1145 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350650.1:c.617G>A" ], "proteinEffect": { "hgvs": "NP_001337579.1:p.Trp206Ter", "hgvsWellDefined": "NP_001337579.1:p.Trp206_Gln406delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519533" }, { "@id": "http://reg.genome.network/allele/PA2827558183", "coordinates": [ { "allele": "A", "end": 1082, "referenceAllele": "G", "start": 1081 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350651.1:c.617G>A" ], "proteinEffect": { "hgvs": "NP_001337580.1:p.Trp206Ter", "hgvsWellDefined": "NP_001337580.1:p.Trp206_Gln406delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519534" }, { "coordinates": [ { "allele": "A", "end": 1220, "referenceAllele": "G", "start": 1219 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146882.1:n.1220G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS530438" }, { "coordinates": [ { "allele": "A", "end": 1034, "referenceAllele": "G", "start": 1033 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146883.1:n.1034G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS530439" }, { "coordinates": [ { "allele": "A", "end": 1320, "referenceAllele": "G", "start": 1319 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541497.3:c.1022G>A" ], "proteinEffect": { "hgvs": "XP_011539799.1:p.Trp341Ter", "hgvsWellDefined": "XP_011539799.1:p.Trp341_Gln541delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554460" }, { "coordinates": [ { "allele": "A", "end": 1298, "referenceAllele": "G", "start": 1297 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541500.3:c.1004G>A" ], "proteinEffect": { "hgvs": "XP_011539802.1:p.Trp335Ter", "hgvsWellDefined": "XP_011539802.1:p.Trp335_Gln535delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554461" }, { "coordinates": [ { "allele": "A", "end": 1192, "referenceAllele": "G", "start": 1191 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541501.2:c.1004G>A" ], "proteinEffect": { "hgvs": "XP_011539803.1:p.Trp335Ter", "hgvsWellDefined": "XP_011539803.1:p.Trp335_Gln535delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554462" }, { "coordinates": [ { "allele": "A", "end": 1097, "referenceAllele": "G", "start": 1096 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541502.2:c.1004G>A" ], "proteinEffect": { "hgvs": "XP_011539804.1:p.Trp335Ter", "hgvsWellDefined": "XP_011539804.1:p.Trp335_Gln535delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554463" }, { "coordinates": [ { "allele": "A", "end": 1065, "referenceAllele": "G", "start": 1064 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541503.2:c.1004G>A" ], "proteinEffect": { "hgvs": "XP_011539805.1:p.Trp335Ter", "hgvsWellDefined": "XP_011539805.1:p.Trp335_Gln535delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554464" }, { "coordinates": [ { "allele": "A", "end": 1146, "referenceAllele": "G", "start": 1145 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541504.2:c.995G>A" ], "proteinEffect": { "hgvs": "XP_011539806.1:p.Trp332Ter", "hgvsWellDefined": "XP_011539806.1:p.Trp332_Gln532delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554465" }, { "coordinates": [ { "allele": "A", "end": 766, "referenceAllele": "G", "start": 765 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541505.2:c.584G>A" ], "proteinEffect": { "hgvs": "XP_011539807.1:p.Trp195Ter", "hgvsWellDefined": "XP_011539807.1:p.Trp195_Gln395delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554466" }, { "coordinates": [ { "allele": "A", "end": 808, "referenceAllele": "G", "start": 807 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541506.2:c.584G>A" ], "proteinEffect": { "hgvs": "XP_011539808.1:p.Trp195Ter", "hgvsWellDefined": "XP_011539808.1:p.Trp195_Gln395delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554467" }, { "coordinates": [ { "allele": "A", "end": 1096, "referenceAllele": "G", "start": 1095 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001331.1:c.1004G>A" ], "proteinEffect": { "hgvs": "XP_016856820.1:p.Trp335Ter", "hgvsWellDefined": "XP_016856820.1:p.Trp335_Gln535delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557533" }, { "coordinates": [ { "allele": "A", "end": 1098, "referenceAllele": "G", "start": 1097 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001332.1:c.1004G>A" ], "proteinEffect": { "hgvs": "XP_016856821.1:p.Trp335Ter", "hgvsWellDefined": "XP_016856821.1:p.Trp335_Gln535delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557534" }, { "coordinates": [ { "allele": "A", "end": 1151, "referenceAllele": "G", "start": 1150 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001333.1:c.1004G>A" ], "proteinEffect": { "hgvs": "XP_016856822.1:p.Trp335Ter", "hgvsWellDefined": "XP_016856822.1:p.Trp335_Gln535delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557535" }, { "coordinates": [ { "allele": "A", "end": 1044, "referenceAllele": "G", "start": 1043 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001334.1:c.965G>A" ], "proteinEffect": { "hgvs": "XP_016856823.1:p.Trp322Ter", "hgvsWellDefined": "XP_016856823.1:p.Trp322_Gln522delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557536" }, { "coordinates": [ { "allele": "A", "end": 990, "referenceAllele": "G", "start": 989 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001335.1:c.686G>A" ], "proteinEffect": { "hgvs": "XP_016856824.1:p.Trp229Ter", "hgvsWellDefined": "XP_016856824.1:p.Trp229_Gln429delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557537" }, { "coordinates": [ { "allele": "A", "end": 1074, "referenceAllele": "G", "start": 1073 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001336.1:c.617G>A" ], "proteinEffect": { "hgvs": "XP_016856825.1:p.Trp206Ter", "hgvsWellDefined": "XP_016856825.1:p.Trp206_Gln406delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557538" }, { "coordinates": [ { "allele": "A", "end": 1014, "referenceAllele": "G", "start": 1013 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001337.1:c.617G>A" ], "proteinEffect": { "hgvs": "XP_016856826.1:p.Trp206Ter", "hgvsWellDefined": "XP_016856826.1:p.Trp206_Gln406delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557539" }, { "coordinates": [ { "allele": "A", "end": 1039, "referenceAllele": "G", "start": 1038 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447244.1:c.617G>A" ], "proteinEffect": { "hgvs": "XP_024303012.1:p.Trp206Ter", "hgvsWellDefined": "XP_024303012.1:p.Trp206_Gln406delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580832" }, { "coordinates": [ { "allele": "A", "end": 984, "referenceAllele": "G", "start": 983 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447245.1:c.617G>A" ], "proteinEffect": { "hgvs": "XP_024303013.1:p.Trp206Ter", "hgvsWellDefined": "XP_024303013.1:p.Trp206_Gln406delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580833" }, { "coordinates": [ { "allele": "A", "end": 955, "referenceAllele": "G", "start": 954 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447248.1:c.575G>A" ], "proteinEffect": { "hgvs": "XP_024303016.1:p.Trp192Ter", "hgvsWellDefined": "XP_024303016.1:p.Trp192_Gln392delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580836" }, { "coordinates": [ { "allele": "A", "end": 1307, "referenceAllele": "G", "start": 1306 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447249.1:c.446G>A" ], "proteinEffect": { "hgvs": "XP_024303017.1:p.Trp149Ter", "hgvsWellDefined": "XP_024303017.1:p.Trp149_Gln349delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580837" }, { "coordinates": [ { "allele": "A", "end": 1308, "referenceAllele": "G", "start": 1307 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447250.1:c.446G>A" ], "proteinEffect": { "hgvs": "XP_024303018.1:p.Trp149Ter", "hgvsWellDefined": "XP_024303018.1:p.Trp149_Gln349delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580838" }, { "coordinates": [ { "allele": "A", "end": 942, "referenceAllele": "G", "start": 941 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447251.1:c.446G>A" ], "proteinEffect": { "hgvs": "XP_024303019.1:p.Trp149Ter", "hgvsWellDefined": "XP_024303019.1:p.Trp149_Gln349delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580839" }, { "coordinates": [ { "allele": "A", "end": 1007, "referenceAllele": "G", "start": 1006 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_001737190.1:n.1007G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS587991" }, { "coordinates": [ { "allele": "A", "end": 819, "referenceAllele": "G", "start": 818 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_001737192.1:n.819G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS587992" }, { "coordinates": [ { "allele": "A", "end": 999, "referenceAllele": "G", "start": 998 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_002956643.1:n.999G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS602781" }, { "coordinates": [ { "allele": "A", "end": 1534, "referenceAllele": "G", "start": 1533 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_002956644.1:n.1534G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS602782" }, { "coordinates": [ { "allele": "A", "end": 1107, "referenceAllele": "G", "start": 1106 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_946658.2:n.1107G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS614413" }, { "@id": "http://reg.genome.network/allele/PA2825426774", "coordinates": [ { "allele": "A", "end": 1190, "referenceAllele": "G", "start": 1189 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048171.2:c.962G>A" ], "proteinEffect": { "hgvs": "NP_001041636.2:p.Trp321Ter", "hgvsWellDefined": "NP_001041636.2:p.Trp321_Gln521delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676107" }, { "@id": "http://reg.genome.network/allele/PA645453290", "coordinates": [ { "allele": "A", "end": 1232, "referenceAllele": "G", "start": 1231 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001128425.2:c.1046G>A" ], "proteinEffect": { "hgvs": "NP_001121897.1:p.Trp349Ter", "hgvsWellDefined": "NP_001121897.1:p.Trp349_Gln549delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676985", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000710952.2:c.1046G>A" }, "RefSeq": { "hgvs": "NM_001128425.2:c.1046G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000518552.2:p.Trp349Ter" }, "RefSeq": { "hgvs": "NP_001121897.1:p.Trp349Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825428384", "coordinates": [ { "allele": "A", "end": 1116, "referenceAllele": "G", "start": 1115 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048172.2:c.965G>A" ], "proteinEffect": { "hgvs": "NP_001041637.1:p.Trp322Ter", "hgvsWellDefined": "NP_001041637.1:p.Trp322_Gln522delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711730" }, { "@id": "http://reg.genome.network/allele/PA2825429996", "coordinates": [ { "allele": "A", "end": 1113, "referenceAllele": "G", "start": 1112 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048173.2:c.962G>A" ], "proteinEffect": { "hgvs": "NP_001041638.1:p.Trp321Ter", "hgvsWellDefined": "NP_001041638.1:p.Trp321_Gln521delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711731" }, { "@id": "http://reg.genome.network/allele/PA2825431607", "coordinates": [ { "allele": "A", "end": 1040, "referenceAllele": "G", "start": 1039 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048174.2:c.962G>A" ], "proteinEffect": { "hgvs": "NP_001041639.1:p.Trp321Ter", "hgvsWellDefined": "NP_001041639.1:p.Trp321_Gln521delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711732", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000456914.7:c.962G>A" }, "RefSeq": { "hgvs": "NM_001048174.2:c.962G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000407590.2:p.Trp321Ter" }, "RefSeq": { "hgvs": "NP_001041639.1:p.Trp321Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826824044", "coordinates": [ { "allele": "A", "end": 1193, "referenceAllele": "G", "start": 1192 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293190.2:c.1007G>A" ], "proteinEffect": { "hgvs": "NP_001280119.1:p.Trp336Ter", "hgvsWellDefined": "NP_001280119.1:p.Trp336_Gln536delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716759" }, { "@id": "http://reg.genome.network/allele/PA2826825685", "coordinates": [ { "allele": "A", "end": 1073, "referenceAllele": "G", "start": 1072 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293191.2:c.995G>A" ], "proteinEffect": { "hgvs": "NP_001280120.1:p.Trp332Ter", "hgvsWellDefined": "NP_001280120.1:p.Trp332_Gln532delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716760" }, { "@id": "http://reg.genome.network/allele/PA2826827017", "coordinates": [ { "allele": "A", "end": 1126, "referenceAllele": "G", "start": 1125 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293192.2:c.686G>A" ], "proteinEffect": { "hgvs": "NP_001280121.1:p.Trp229Ter", "hgvsWellDefined": "NP_001280121.1:p.Trp229_Gln429delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716761" }, { "@id": "http://reg.genome.network/allele/PA2826828621", "coordinates": [ { "allele": "A", "end": 1190, "referenceAllele": "G", "start": 1189 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293195.2:c.962G>A" ], "proteinEffect": { "hgvs": "NP_001280124.1:p.Trp321Ter", "hgvsWellDefined": "NP_001280124.1:p.Trp321_Gln521delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716762" }, { "@id": "http://reg.genome.network/allele/PA2826829797", "coordinates": [ { "allele": "A", "end": 1049, "referenceAllele": "G", "start": 1048 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293196.2:c.686G>A" ], "proteinEffect": { "hgvs": "NP_001280125.1:p.Trp229Ter", "hgvsWellDefined": "NP_001280125.1:p.Trp229_Gln429delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716763" }, { "@id": "http://reg.genome.network/allele/PA2827556970", "coordinates": [ { "allele": "A", "end": 1116, "referenceAllele": "G", "start": 1115 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350650.2:c.617G>A" ], "proteinEffect": { "hgvs": "NP_001337579.1:p.Trp206Ter", "hgvsWellDefined": "NP_001337579.1:p.Trp206_Gln406delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS719606" }, { "@id": "http://reg.genome.network/allele/PA2827558183", "coordinates": [ { "allele": "A", "end": 1052, "referenceAllele": "G", "start": 1051 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350651.2:c.617G>A" ], "proteinEffect": { "hgvs": "NP_001337580.1:p.Trp206Ter", "hgvsWellDefined": "NP_001337580.1:p.Trp206_Gln406delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS719607" }, { "@id": "http://reg.genome.network/allele/PA2829726495", "coordinates": [ { "allele": "A", "end": 1223, "referenceAllele": "G", "start": 1222 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_012222.3:c.1037G>A" ], "proteinEffect": { "hgvs": "NP_036354.1:p.Trp346Ter", "hgvsWellDefined": "NP_036354.1:p.Trp346_Gln546delinsAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727852" }, { "coordinates": [ { "allele": "A", "end": 1190, "referenceAllele": "G", "start": 1189 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146882.2:n.1190G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS731326" }, { "coordinates": [ { "allele": "A", "end": 1039, "referenceAllele": "G", "start": 1038 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146883.2:n.1039G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS731327" } ], "type": "nucleotide" }