{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA340136014", "communityStandardTitle": [ "NM_001048174.2(MUTYH):c.384G>A (p.Trp128Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1685016[alleleid]", "alleleId": 1685016, "preferredName": "NM_001048174.2(MUTYH):c.384G>A (p.Trp128Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1692576", "RCV": [ "RCV002255945", "RCV003464415" ], "variationId": 1692576 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.45798626C>T?assembly=hg19", "id": "chr1:g.45798626C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.45332954C>T?assembly=hg38", "id": "chr1:g.45332954C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2149161607", "rs": 2149161607 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-45332954-C-T?dataset=gnomad_r4", "id": "1-45332954-C-T", "variant": "1:45332954 C / T" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 45332954, "referenceAllele": "C", "start": 45332953 } ], "hgvs": [ "NC_000001.11:g.45332954C>T", "CM000663.2:g.45332954C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 45798626, "referenceAllele": "C", "start": 45798625 } ], "hgvs": [ "NC_000001.10:g.45798626C>T", "CM000663.1:g.45798626C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 45571213, "referenceAllele": "C", "start": 45571212 } ], "hgvs": [ "NC_000001.9:g.45571213C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "A", "end": 12517, "referenceAllele": "G", "start": 12516 } ], "hgvs": [ "NG_008189.1:g.12517G>A", "LRG_220:g.12517G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000931" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 163, "endIntronDirection": "-", "endIntronOffset": 119, "referenceAllele": "G", "start": 163, "startIntronDirection": "-", "startIntronOffset": 120 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000412971.6:c.37-120G>A" ], "proteinEffect": { "hgvs": "ENSP00000410263.2:n.37-120G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914025" }, { "coordinates": [ { "allele": "A", "end": 568, "referenceAllele": "G", "start": 567 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000435155.2:c.417G>A" ], "proteinEffect": { "hgvs": "ENSP00000403655.2:p.Trp139Ter", "hgvsWellDefined": "ENSP00000403655.2:p.Trp139_Gln532delinsProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914061" }, { "coordinates": [ { "allele": "A", "end": 462, "referenceAllele": "G", "start": 461 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000467459.6:c.384G>A" ], "proteinEffect": { "hgvs": "ENSP00000435889.2:p.Trp128Ter", "hgvsWellDefined": "ENSP00000435889.2:p.Trp128_Pro386delinsProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysGlyPheGlyAspLeuArgSerGlnLeuProThrLeuAspSerAlaThrCysAlaCysLeuProArgSerProGlyThrArgProTrpGluTrpSerThrSerProGluArgProAlaAlaSerProProGlyArgArgAlaLeuProProValPheTrpAsnSerLeuGlyProLeuGlyProLysPheCysTrpCysArgGlyProThrGlnValCysTrpGlnAspCysGlySerSerArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914113" }, { "coordinates": [ { "allele": "A", "end": 908, "referenceAllele": "G", "start": 907 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000483127.2:c.402G>A" ], "proteinEffect": { "hgvs": "ENSP00000436469.2:p.Trp134Ter", "hgvsWellDefined": "ENSP00000436469.2:p.Trp134_Gln527delinsProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914139" }, { "coordinates": [ { "allele": "A", "end": 436, "referenceAllele": "G", "start": 435 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000485271.6:c.384G>A" ], "proteinEffect": { "hgvs": "ENSP00000431264.2:p.Trp128Ter", "hgvsWellDefined": "ENSP00000431264.2:p.Trp128_Met478delinsProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914144" }, { "coordinates": [ { "allele": "A", "end": 587, "referenceAllele": "G", "start": 586 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000529892.6:c.426G>A" ], "proteinEffect": { "hgvs": "ENSP00000432528.2:p.Trp142Ter", "hgvsWellDefined": "ENSP00000432528.2:p.Trp142_Gln472delinsProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914235" }, { "coordinates": [ { "allele": "A", "end": 121, "endIntronDirection": "-", "endIntronOffset": 266, "referenceAllele": "G", "start": 121, "startIntronDirection": "-", "startIntronOffset": 267 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000533178.6:c.116-267G>A" ], "proteinEffect": { "hgvs": "ENSP00000436430.2:n.116-267G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914245" }, { "coordinates": [ { "allele": "A", "end": 1514, "referenceAllele": "G", "start": 1513 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672314.2:c.384G>A" ], "proteinEffect": { "hgvs": "ENSP00000500828.2:p.Trp128Ter", "hgvsWellDefined": "ENSP00000500828.2:p.Trp128_Gln521delinsProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914444" }, { "coordinates": [ { "allele": "A", "end": 446, "referenceAllele": "G", "start": 445 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000674679.2:c.*296G>A" ], "proteinEffect": { "hgvs": "ENSP00000501623.2:n.*296G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914455" }, { "coordinates": [ { "allele": "A", "end": 654, "referenceAllele": "G", "start": 653 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000710952.2:c.468G>A" ], "proteinEffect": { "hgvs": "ENSP00000518552.2:p.Trp156Ter", "hgvsWellDefined": "ENSP00000518552.2:p.Trp156_Gln549delinsProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914573", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000710952.2:c.468G>A" }, "RefSeq": { "hgvs": "NM_001128425.2:c.468G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000518552.2:p.Trp156Ter" }, "RefSeq": { "hgvs": "NP_001121897.1:p.Trp156Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 645, "referenceAllele": "G", "start": 644 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672818.3:c.459G>A" ], "proteinEffect": { "hgvs": "ENSP00000500891.1:p.Trp153Ter", "hgvsWellDefined": "ENSP00000500891.1:p.Trp153_Gln546delinsProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS826866" }, { "coordinates": [ { "allele": "A", "end": 539, "referenceAllele": "G", "start": 538 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000450313.6:c.394G>A" ], "proteinEffect": { "hgvs": "ENSP00000408176.2:p.Ala132Thr", "hgvsWellDefined": "ENSP00000408176.2:p.Ala132Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS756282" }, { "coordinates": [ { "allele": "A", "end": 462, "referenceAllele": "G", "start": 461 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000456914.7:c.384G>A" ], "proteinEffect": { "hgvs": "ENSP00000407590.2:p.Trp128Ter", "hgvsWellDefined": "ENSP00000407590.2:p.Trp128_Gln521delinsProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS756574", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000456914.7:c.384G>A" }, "RefSeq": { "hgvs": "NM_001048174.2:c.384G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000407590.2:p.Trp128Ter" }, "RefSeq": { "hgvs": "NP_001041639.1:p.Trp128Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 448, "referenceAllele": "G", "start": 447 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000461495.6:c.*123G>A" ], "proteinEffect": { "hgvs": "ENSP00000437166.1:n.*123G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS756715" }, { "coordinates": [ { "allele": "A", "end": 330, "referenceAllele": "G", "start": 329 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000671856.1:n.330G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773188" }, { "coordinates": [ { "allele": "A", "end": 1362, "referenceAllele": "G", "start": 1361 } ], "hgvs": [ "ENST00000671898.1:c.972G>A" ], "proteinEffect": { "hgvs": "ENSP00000499896.1:p.Trp324Ter", "hgvsWellDefined": "ENSP00000499896.1:p.Trp324_Met674delinsProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773205" }, { "coordinates": [ { "allele": "A", "end": 991, "referenceAllele": "G", "start": 990 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672011.1:c.352G>A" ], "proteinEffect": { "hgvs": "ENSP00000500418.1:p.Ala118Thr", "hgvsWellDefined": "ENSP00000500418.1:p.Ala118Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS773239" }, { "coordinates": [ { "allele": "A", "end": 1514, "referenceAllele": "G", "start": 1513 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672314.1:c.384G>A" ], "proteinEffect": { "hgvs": "ENSP00000500828.1:p.Trp128Ter", "hgvsWellDefined": "ENSP00000500828.1:p.Trp128_Phe466del" }, "referenceSequence": "http://reg.genome.network/refseq/RS773342" }, { "coordinates": [ { "allele": "A", "end": 781, "referenceAllele": "G", "start": 780 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672593.1:c.*197G>A" ], "proteinEffect": { "hgvs": "ENSP00000500455.1:n.*197G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773427" }, { "coordinates": [ { "allele": "A", "end": 458, "referenceAllele": "G", "start": 457 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672764.1:c.343G>A" ], "proteinEffect": { "hgvs": "ENSP00000500886.1:p.Ala115Thr", "hgvsWellDefined": "ENSP00000500886.1:p.Ala115Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS773483" }, { "coordinates": [ { "allele": "A", "end": 593, "referenceAllele": "G", "start": 592 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672818.2:c.459G>A" ], "proteinEffect": { "hgvs": "ENSP00000500891.1:p.Trp153Ter", "hgvsWellDefined": "ENSP00000500891.1:p.Trp153_Gln546delinsProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773501" }, { "coordinates": [ { "allele": "A", "end": 282, "endIntronDirection": "-", "endIntronOffset": 119, "referenceAllele": "G", "start": 282, "startIntronDirection": "-", "startIntronOffset": 120 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000673134.1:c.*118-120G>A" ], "proteinEffect": { "hgvs": "ENSP00000500526.1:n.*118-120G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773595" }, { "coordinates": [ { "allele": "A", "end": 412, "referenceAllele": "G", "start": 411 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000674679.1:c.412G>A" ], "proteinEffect": { "hgvs": "ENSP00000501623.1:n.412G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS774613" }, { "coordinates": [ { "allele": "A", "end": 498, "referenceAllele": "G", "start": 497 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000354383.10:c.387G>A" ], "proteinEffect": { "hgvs": "ENSP00000346354.6:p.Trp129Ter", "hgvsWellDefined": "ENSP00000346354.6:p.Trp129_Gln522delinsProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247302" }, { "coordinates": [ { "allele": "A", "end": 530, "referenceAllele": "G", "start": 529 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000355498.6:c.384G>A" ], "proteinEffect": { "hgvs": "ENSP00000347685.2:p.Trp128Ter", "hgvsWellDefined": "ENSP00000347685.2:p.Trp128_Gln521delinsProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247152" }, { "coordinates": [ { "allele": "A", "end": 593, "referenceAllele": "G", "start": 592 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372098.7:c.459G>A" ], "proteinEffect": { "hgvs": "ENSP00000361170.3:p.Trp153Ter", "hgvsWellDefined": "ENSP00000361170.3:p.Trp153_Gln546delinsProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247324" }, { "coordinates": [ { "allele": "A", "end": 577, "referenceAllele": "G", "start": 576 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372104.5:c.384G>A" ], "proteinEffect": { "hgvs": "ENSP00000361176.1:p.Trp128Ter", "hgvsWellDefined": "ENSP00000361176.1:p.Trp128_Gln521delinsProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247419" }, { "coordinates": [ { "allele": "A", "end": 563, "referenceAllele": "G", "start": 562 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372110.7:c.429G>A" ], "proteinEffect": { "hgvs": "ENSP00000361182.3:p.Trp143Ter", "hgvsWellDefined": "ENSP00000361182.3:p.Trp143_Gln536delinsProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247212" }, { "coordinates": [ { "allele": "A", "end": 642, "referenceAllele": "G", "start": 641 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372115.7:c.426G>A" ], "proteinEffect": { "hgvs": "ENSP00000361187.3:p.Trp142Ter", "hgvsWellDefined": "ENSP00000361187.3:p.Trp142_Gln535delinsProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" 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"referenceSequence": "http://reg.genome.network/refseq/RS324499" }, { "coordinates": [ { "allele": "A", "end": 141, "endIntronDirection": "-", "endIntronOffset": 119, "referenceAllele": "G", "start": 141, "startIntronDirection": "-", "startIntronOffset": 120 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000488731.6:c.116-120G>A" ], "proteinEffect": { "hgvs": "ENSP00000432330.1:n.116-120G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS247146" }, { "coordinates": [ { "allele": "A", "end": 698, "referenceAllele": "G", "start": 697 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000492494.5:n.698G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS329864" }, { "coordinates": [ { "allele": "A", "end": 363, "referenceAllele": "G", "start": 362 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000525160.5:c.*35G>A" ], "proteinEffect": { "hgvs": "ENSP00000431568.1:n.*35G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS351225" }, { "coordinates": [ { "allele": "A", "end": 480, "referenceAllele": "G", "start": 479 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000528013.6:c.426G>A" ], "proteinEffect": { "hgvs": "ENSP00000433130.2:p.Trp142Ter", "hgvsWellDefined": "ENSP00000433130.2:p.Trp142_Gln535delinsProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247200" }, { "coordinates": [ { "allele": "A", "end": 350, "endIntronDirection": "-", "endIntronOffset": 119, "referenceAllele": "G", "start": 350, "startIntronDirection": "-", "startIntronOffset": 120 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000529984.5:c.116-120G>A" ], "proteinEffect": { "hgvs": "ENSP00000437093.1:n.116-120G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS247331" }, { "coordinates": [ { "allele": "A", "end": 309, "endIntronDirection": "+", "endIntronOffset": 1437, "referenceAllele": "G", "start": 309, "startIntronDirection": "+", "startIntronOffset": 1436 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000531105.5:c.115+1437G>A" ], "proteinEffect": { "hgvs": "ENSP00000431292.1:n.115+1437G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS246639" }, { "coordinates": [ { "allele": "A", "end": 121, "endIntronDirection": "-", "endIntronOffset": 266, "referenceAllele": "G", "start": 121, "startIntronDirection": "-", "startIntronOffset": 267 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000533178.5:c.122-267G>A" ], "proteinEffect": { "hgvs": "ENSP00000436430.1:n.122-267G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS357989" }, { "coordinates": [ { "allele": "A", "end": 642, "referenceAllele": "G", "start": 641 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048171.1:c.426G>A" ], "proteinEffect": { "hgvs": "NP_001041636.1:p.Trp142Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS009856" }, { "@id": "http://reg.genome.network/allele/PA2825427784", "coordinates": [ { "allele": "A", "end": 533, "referenceAllele": "G", "start": 532 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048172.1:c.387G>A" ], "proteinEffect": { "hgvs": "NP_001041637.1:p.Trp129Ter", "hgvsWellDefined": "NP_001041637.1:p.Trp129_Gln522delinsProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009857" }, { "@id": "http://reg.genome.network/allele/PA2825429395", "coordinates": [ { "allele": "A", "end": 530, "referenceAllele": "G", "start": 529 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048173.1:c.384G>A" ], "proteinEffect": { "hgvs": "NP_001041638.1:p.Trp128Ter", "hgvsWellDefined": "NP_001041638.1:p.Trp128_Gln521delinsProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009858" }, { "@id": "http://reg.genome.network/allele/PA2825431007", "coordinates": [ { "allele": "A", "end": 449, "referenceAllele": "G", "start": 448 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048174.1:c.384G>A" ], "proteinEffect": { "hgvs": "NP_001041639.1:p.Trp128Ter", "hgvsWellDefined": "NP_001041639.1:p.Trp128_Gln521delinsProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009859" }, { "@id": "http://reg.genome.network/allele/PA645452235", "coordinates": [ { "allele": "A", "end": 684, "referenceAllele": "G", "start": 683 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001128425.1:c.468G>A", "LRG_220t1:c.468G>A" ], "proteinEffect": { "hgvs": "NP_001121897.1:p.Trp156Ter", "hgvsWellDefined": "NP_001121897.1:p.Trp156_Gln549delinsProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011778" }, { "@id": "http://reg.genome.network/allele/PA2826823445", "coordinates": [ { "allele": "A", "end": 645, "referenceAllele": "G", "start": 644 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293190.1:c.429G>A" ], "proteinEffect": { "hgvs": "NP_001280119.1:p.Trp143Ter", "hgvsWellDefined": "NP_001280119.1:p.Trp143_Gln536delinsProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024498" }, { "@id": "http://reg.genome.network/allele/PA2826825086", "coordinates": [ { "allele": "A", "end": 482, "referenceAllele": "G", "start": 481 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293191.1:c.417G>A" ], "proteinEffect": { "hgvs": "NP_001280120.1:p.Trp139Ter", "hgvsWellDefined": "NP_001280120.1:p.Trp139_Gln532delinsProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024499" }, { "@id": "http://reg.genome.network/allele/PA2826826419", "coordinates": [ { "allele": "A", "end": 578, "referenceAllele": "G", "start": 577 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293192.1:c.108G>A" ], "proteinEffect": { "hgvs": "NP_001280121.1:p.Trp36Ter", "hgvsWellDefined": "NP_001280121.1:p.Trp36_Gln429delinsProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024500" }, { "@id": "http://reg.genome.network/allele/PA2826828018", "coordinates": [ { "allele": "A", "end": 599, "referenceAllele": "G", "start": 598 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293195.1:c.384G>A" ], "proteinEffect": { "hgvs": "NP_001280124.1:p.Trp128Ter", "hgvsWellDefined": "NP_001280124.1:p.Trp128_Gln521delinsProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024502" }, { "@id": "http://reg.genome.network/allele/PA916018691", "coordinates": [ { "allele": "A", "end": 467, "referenceAllele": "G", "start": 466 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293196.1:c.108G>A" ], "proteinEffect": { "hgvs": "NP_001280125.1:p.Trp36Ter", "hgvsWellDefined": "NP_001280125.1:p.Trp36_Gln429delinsProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024503" }, { "@id": "http://reg.genome.network/allele/PA2829725902", "coordinates": [ { "allele": "A", "end": 675, "referenceAllele": "G", "start": 674 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_012222.2:c.459G>A" ], "proteinEffect": { "hgvs": "NP_036354.1:p.Trp153Ter", "hgvsWellDefined": "NP_036354.1:p.Trp153_Gln546delinsProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032407" }, { "coordinates": [ { "allele": "A", "end": 747, "referenceAllele": "G", "start": 746 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541497.1:c.444G>A" ], "proteinEffect": { "hgvs": "XP_011539799.1:p.Trp148Ter", "hgvsWellDefined": "XP_011539799.1:p.Trp148_Gln541delinsProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108434" }, { "coordinates": [ { "allele": "A", "end": 519, "referenceAllele": "G", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541498.1:c.426G>A" ], "proteinEffect": { "hgvs": "XP_011539800.1:p.Trp142Ter", "hgvsWellDefined": "XP_011539800.1:p.Trp142_Gln535delinsProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108435" }, { "coordinates": [ { "allele": "A", "end": 505, "referenceAllele": "G", "start": 504 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541499.1:c.426G>A" ], "proteinEffect": { "hgvs": "XP_011539801.1:p.Trp142Ter", "hgvsWellDefined": "XP_011539801.1:p.Trp142_Gln535delinsProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108436" }, { "coordinates": [ { "allele": "A", "end": 682, "referenceAllele": "G", "start": 681 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541500.1:c.426G>A" ], "proteinEffect": { "hgvs": "XP_011539802.1:p.Trp142Ter", "hgvsWellDefined": "XP_011539802.1:p.Trp142_Gln535delinsProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108437" }, { "coordinates": [ { "allele": "A", "end": 630, "referenceAllele": "G", "start": 629 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541501.1:c.426G>A" ], "proteinEffect": { "hgvs": "XP_011539803.1:p.Trp142Ter", "hgvsWellDefined": "XP_011539803.1:p.Trp142_Gln535delinsProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108438" }, { "coordinates": [ { "allele": "A", "end": 663, "referenceAllele": "G", "start": 662 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541502.1:c.426G>A" ], "proteinEffect": { "hgvs": "XP_011539804.1:p.Trp142Ter", "hgvsWellDefined": "XP_011539804.1:p.Trp142_Gln535delinsProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108439" }, { "coordinates": [ { "allele": "A", "end": 509, "endIntronDirection": "-", "endIntronOffset": 119, "referenceAllele": "G", "start": 509, "startIntronDirection": "-", "startIntronOffset": 120 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541503.1:c.463-120G>A" ], "proteinEffect": { "hgvs": "XP_011539805.1:n.463-120G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS108440" }, { "coordinates": [ { "allele": "A", "end": 539, "referenceAllele": "G", "start": 538 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541504.1:c.417G>A" ], "proteinEffect": { "hgvs": "XP_011539806.1:p.Trp139Ter", "hgvsWellDefined": "XP_011539806.1:p.Trp139_Gln532delinsProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108441" }, { "coordinates": [ { "allele": "A", "end": 210, "endIntronDirection": "-", "endIntronOffset": 119, "referenceAllele": "G", "start": 210, "startIntronDirection": "-", "startIntronOffset": 120 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541505.1:c.43-120G>A" ], "proteinEffect": { "hgvs": "XP_011539807.1:n.43-120G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS108442" }, { "coordinates": [ { "allele": "A", "end": 208, "endIntronDirection": "-", "endIntronOffset": 119, "referenceAllele": "G", "start": 208, "startIntronDirection": "-", "startIntronOffset": 120 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541506.1:c.43-120G>A" ], "proteinEffect": { "hgvs": "XP_011539808.1:n.43-120G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS108443" }, { "coordinates": [ { "allele": "A", "end": 40, "endIntronDirection": "-", "endIntronOffset": 119, "referenceAllele": "G", "start": 40, "startIntronDirection": "-", "startIntronOffset": 120 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541507.1:c.34-120G>A" ], "proteinEffect": { "hgvs": "XP_011539809.1:n.34-120G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS108444" }, { "coordinates": [ { "allele": "A", "end": 37, "referenceAllele": "G", "start": 36 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541508.1:c.12G>A" ], "proteinEffect": { "hgvs": "XP_011539810.1:p.Trp4Ter", "hgvsWellDefined": "XP_011539810.1:p.Trp4_Gln397delinsProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108445" }, { "coordinates": [ { "allele": "A", "end": 515, "referenceAllele": "G", "start": 514 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_946658.1:n.515G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS140241" }, { "@id": "http://reg.genome.network/allele/PA2827556369", "coordinates": [ { "allele": "A", "end": 568, "referenceAllele": "G", "start": 567 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350650.1:c.39G>A" ], "proteinEffect": { "hgvs": "NP_001337579.1:p.Trp13Ter", "hgvsWellDefined": "NP_001337579.1:p.Trp13_Gln406delinsProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519533" }, { "@id": "http://reg.genome.network/allele/PA2827557626", "coordinates": [ { "allele": "A", "end": 504, "referenceAllele": "G", "start": 503 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350651.1:c.39G>A" ], "proteinEffect": { "hgvs": "NP_001337580.1:p.Trp13Ter", "hgvsWellDefined": "NP_001337580.1:p.Trp13_Gln406delinsProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519534" }, { "coordinates": [ { "allele": "A", "end": 642, "referenceAllele": "G", "start": 641 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146882.1:n.642G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS530438" }, { "coordinates": [ { "allele": "A", "end": 456, "referenceAllele": "G", "start": 455 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146883.1:n.456G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS530439" }, { "coordinates": [ { "allele": "A", "end": 742, "referenceAllele": "G", "start": 741 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541497.3:c.444G>A" ], "proteinEffect": { "hgvs": "XP_011539799.1:p.Trp148Ter", "hgvsWellDefined": "XP_011539799.1:p.Trp148_Gln541delinsProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554460" }, { "coordinates": [ { "allele": "A", "end": 720, "referenceAllele": "G", "start": 719 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541500.3:c.426G>A" ], "proteinEffect": { "hgvs": "XP_011539802.1:p.Trp142Ter", "hgvsWellDefined": "XP_011539802.1:p.Trp142_Gln535delinsProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554461" }, { "coordinates": [ { "allele": "A", "end": 614, "referenceAllele": "G", "start": 613 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541501.2:c.426G>A" ], "proteinEffect": { "hgvs": "XP_011539803.1:p.Trp142Ter", "hgvsWellDefined": "XP_011539803.1:p.Trp142_Gln535delinsProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554462" }, { "coordinates": [ { "allele": "A", "end": 519, "referenceAllele": "G", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541502.2:c.426G>A" ], "proteinEffect": { "hgvs": "XP_011539804.1:p.Trp142Ter", "hgvsWellDefined": "XP_011539804.1:p.Trp142_Gln535delinsProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554463" }, { "coordinates": [ { "allele": "A", "end": 523, "endIntronDirection": "-", "endIntronOffset": 119, "referenceAllele": "G", "start": 523, "startIntronDirection": "-", "startIntronOffset": 120 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541503.2:c.463-120G>A" ], "proteinEffect": { "hgvs": "XP_011539805.1:n.463-120G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS554464" }, { "coordinates": [ { "allele": "A", "end": 568, "referenceAllele": "G", "start": 567 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541504.2:c.417G>A" ], "proteinEffect": { "hgvs": "XP_011539806.1:p.Trp139Ter", "hgvsWellDefined": "XP_011539806.1:p.Trp139_Gln532delinsProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554465" }, { "coordinates": [ { "allele": "A", "end": 224, "endIntronDirection": "-", "endIntronOffset": 119, "referenceAllele": "G", "start": 224, "startIntronDirection": "-", "startIntronOffset": 120 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541505.2:c.43-120G>A" ], "proteinEffect": { "hgvs": "XP_011539807.1:n.43-120G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS554466" }, { "coordinates": [ { "allele": "A", "end": 266, "endIntronDirection": "-", "endIntronOffset": 119, "referenceAllele": "G", "start": 266, "startIntronDirection": "-", "startIntronOffset": 120 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541506.2:c.43-120G>A" ], "proteinEffect": { "hgvs": "XP_011539808.1:n.43-120G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS554467" }, { "coordinates": [ { "allele": "A", "end": 518, "referenceAllele": "G", "start": 517 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001331.1:c.426G>A" ], "proteinEffect": { "hgvs": "XP_016856820.1:p.Trp142Ter", "hgvsWellDefined": "XP_016856820.1:p.Trp142_Gln535delinsProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557533" }, { "coordinates": [ { "allele": "A", "end": 520, "referenceAllele": "G", "start": 519 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001332.1:c.426G>A" ], "proteinEffect": { "hgvs": "XP_016856821.1:p.Trp142Ter", "hgvsWellDefined": "XP_016856821.1:p.Trp142_Gln535delinsProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557534" }, { "coordinates": [ { "allele": "A", "end": 573, "referenceAllele": "G", "start": 572 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001333.1:c.426G>A" ], "proteinEffect": { "hgvs": "XP_016856822.1:p.Trp142Ter", "hgvsWellDefined": "XP_016856822.1:p.Trp142_Gln535delinsProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557535" }, { "coordinates": [ { "allele": "A", "end": 466, "referenceAllele": "G", "start": 465 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001334.1:c.387G>A" ], "proteinEffect": { "hgvs": "XP_016856823.1:p.Trp129Ter", "hgvsWellDefined": "XP_016856823.1:p.Trp129_Gln522delinsProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557536" }, { "coordinates": [ { "allele": "A", "end": 412, "referenceAllele": "G", "start": 411 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001335.1:c.108G>A" ], "proteinEffect": { "hgvs": "XP_016856824.1:p.Trp36Ter", "hgvsWellDefined": "XP_016856824.1:p.Trp36_Gln429delinsProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557537" }, { "coordinates": [ { "allele": "A", "end": 496, "referenceAllele": "G", "start": 495 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001336.1:c.39G>A" ], "proteinEffect": { "hgvs": "XP_016856825.1:p.Trp13Ter", "hgvsWellDefined": "XP_016856825.1:p.Trp13_Gln406delinsProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557538" }, { "coordinates": [ { "allele": "A", "end": 436, "referenceAllele": "G", "start": 435 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001337.1:c.39G>A" ], "proteinEffect": { "hgvs": "XP_016856826.1:p.Trp13Ter", "hgvsWellDefined": "XP_016856826.1:p.Trp13_Gln406delinsProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557539" }, { "coordinates": [ { "allele": "A", "end": 461, "referenceAllele": "G", "start": 460 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447244.1:c.39G>A" ], "proteinEffect": { "hgvs": "XP_024303012.1:p.Trp13Ter", "hgvsWellDefined": "XP_024303012.1:p.Trp13_Gln406delinsProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580832" }, { "coordinates": [ { "allele": "A", "end": 406, "referenceAllele": "G", "start": 405 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447245.1:c.39G>A" ], "proteinEffect": { "hgvs": "XP_024303013.1:p.Trp13Ter", "hgvsWellDefined": "XP_024303013.1:p.Trp13_Gln406delinsProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580833" }, { "coordinates": [ { "allele": "A", "end": 413, "endIntronDirection": "-", "endIntronOffset": 119, "referenceAllele": "G", "start": 413, "startIntronDirection": "-", "startIntronOffset": 120 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447248.1:c.34-120G>A" ], "proteinEffect": { "hgvs": "XP_024303016.1:n.34-120G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS580836" }, { "coordinates": [ { "allele": "A", "end": 729, "referenceAllele": "G", "start": 728 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447249.1:c.-133G>A" ], "proteinEffect": { "hgvs": "XP_024303017.1:n.-133G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS580837" }, { "coordinates": [ { "allele": "A", "end": 730, "referenceAllele": "G", "start": 729 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447250.1:c.-133G>A" ], "proteinEffect": { "hgvs": "XP_024303018.1:n.-133G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS580838" }, { "coordinates": [ { "allele": "A", "end": 281, "referenceAllele": "G", "start": 280 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447251.1:c.-216G>A" ], "proteinEffect": { "hgvs": "XP_024303019.1:n.-216G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS580839" }, { "coordinates": [ { "allele": "A", "end": 429, "referenceAllele": "G", "start": 428 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_001737190.1:n.429G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS587991" }, { "coordinates": [ { "allele": "A", "end": 277, "endIntronDirection": "-", "endIntronOffset": 119, "referenceAllele": "G", "start": 277, "startIntronDirection": "-", "startIntronOffset": 120 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_001737192.1:n.278-120G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS587992" }, { "coordinates": [ { "allele": "A", "end": 457, "endIntronDirection": "-", "endIntronOffset": 119, "referenceAllele": "G", "start": 457, "startIntronDirection": "-", "startIntronOffset": 120 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_002956643.1:n.458-120G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS602781" }, { "coordinates": [ { "allele": "A", "end": 873, "referenceAllele": "G", "start": 872 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_002956644.1:n.873G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS602782" }, { "coordinates": [ { "allele": "A", "end": 529, "referenceAllele": "G", "start": 528 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_946658.2:n.529G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS614413" }, { "@id": "http://reg.genome.network/allele/PA2825426172", "coordinates": [ { "allele": "A", "end": 612, "referenceAllele": "G", "start": 611 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048171.2:c.384G>A" ], "proteinEffect": { "hgvs": "NP_001041636.2:p.Trp128Ter", "hgvsWellDefined": "NP_001041636.2:p.Trp128_Gln521delinsProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676107" }, { "@id": "http://reg.genome.network/allele/PA645452235", "coordinates": [ { "allele": "A", "end": 654, "referenceAllele": "G", "start": 653 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001128425.2:c.468G>A" ], "proteinEffect": { "hgvs": "NP_001121897.1:p.Trp156Ter", "hgvsWellDefined": "NP_001121897.1:p.Trp156_Gln549delinsProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676985", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000710952.2:c.468G>A" }, "RefSeq": { "hgvs": "NM_001128425.2:c.468G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000518552.2:p.Trp156Ter" }, "RefSeq": { "hgvs": "NP_001121897.1:p.Trp156Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825427784", "coordinates": [ { "allele": "A", "end": 538, "referenceAllele": "G", "start": 537 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048172.2:c.387G>A" ], "proteinEffect": { "hgvs": "NP_001041637.1:p.Trp129Ter", "hgvsWellDefined": "NP_001041637.1:p.Trp129_Gln522delinsProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711730" }, { "@id": "http://reg.genome.network/allele/PA2825429395", "coordinates": [ { "allele": "A", "end": 535, "referenceAllele": "G", "start": 534 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048173.2:c.384G>A" ], "proteinEffect": { "hgvs": "NP_001041638.1:p.Trp128Ter", "hgvsWellDefined": "NP_001041638.1:p.Trp128_Gln521delinsProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711731" }, { "@id": "http://reg.genome.network/allele/PA2825431007", "coordinates": [ { "allele": "A", "end": 462, "referenceAllele": "G", "start": 461 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048174.2:c.384G>A" ], "proteinEffect": { "hgvs": "NP_001041639.1:p.Trp128Ter", "hgvsWellDefined": "NP_001041639.1:p.Trp128_Gln521delinsProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711732", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000456914.7:c.384G>A" }, "RefSeq": { "hgvs": "NM_001048174.2:c.384G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000407590.2:p.Trp128Ter" }, "RefSeq": { "hgvs": "NP_001041639.1:p.Trp128Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826823445", "coordinates": [ { "allele": "A", "end": 615, "referenceAllele": "G", "start": 614 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293190.2:c.429G>A" ], "proteinEffect": { "hgvs": "NP_001280119.1:p.Trp143Ter", "hgvsWellDefined": "NP_001280119.1:p.Trp143_Gln536delinsProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716759" }, { "@id": "http://reg.genome.network/allele/PA2826825086", "coordinates": [ { "allele": "A", "end": 495, "referenceAllele": "G", "start": 494 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293191.2:c.417G>A" ], "proteinEffect": { "hgvs": "NP_001280120.1:p.Trp139Ter", "hgvsWellDefined": "NP_001280120.1:p.Trp139_Gln532delinsProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716760" }, { "@id": "http://reg.genome.network/allele/PA2826826419", "coordinates": [ { "allele": "A", "end": 548, "referenceAllele": "G", "start": 547 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293192.2:c.108G>A" ], "proteinEffect": { "hgvs": "NP_001280121.1:p.Trp36Ter", "hgvsWellDefined": "NP_001280121.1:p.Trp36_Gln429delinsProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716761" }, { "@id": "http://reg.genome.network/allele/PA2826828018", "coordinates": [ { "allele": "A", "end": 612, "referenceAllele": "G", "start": 611 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293195.2:c.384G>A" ], "proteinEffect": { "hgvs": "NP_001280124.1:p.Trp128Ter", "hgvsWellDefined": "NP_001280124.1:p.Trp128_Gln521delinsProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716762" }, { "@id": "http://reg.genome.network/allele/PA916018691", "coordinates": [ { "allele": "A", "end": 471, "referenceAllele": "G", "start": 470 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293196.2:c.108G>A" ], "proteinEffect": { "hgvs": "NP_001280125.1:p.Trp36Ter", "hgvsWellDefined": "NP_001280125.1:p.Trp36_Gln429delinsProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716763" }, { "@id": "http://reg.genome.network/allele/PA2827556369", "coordinates": [ { "allele": "A", "end": 538, "referenceAllele": "G", "start": 537 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350650.2:c.39G>A" ], "proteinEffect": { "hgvs": "NP_001337579.1:p.Trp13Ter", "hgvsWellDefined": "NP_001337579.1:p.Trp13_Gln406delinsProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS719606" }, { "@id": "http://reg.genome.network/allele/PA2827557626", "coordinates": [ { "allele": "A", "end": 474, "referenceAllele": "G", "start": 473 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350651.2:c.39G>A" ], "proteinEffect": { "hgvs": "NP_001337580.1:p.Trp13Ter", "hgvsWellDefined": "NP_001337580.1:p.Trp13_Gln406delinsProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS719607" }, { "@id": "http://reg.genome.network/allele/PA2829725902", "coordinates": [ { "allele": "A", "end": 645, "referenceAllele": "G", "start": 644 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_012222.3:c.459G>A" ], "proteinEffect": { "hgvs": "NP_036354.1:p.Trp153Ter", "hgvsWellDefined": "NP_036354.1:p.Trp153_Gln546delinsProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727852" }, { "coordinates": [ { "allele": "A", "end": 612, "referenceAllele": "G", "start": 611 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146882.2:n.612G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS731326" }, { "coordinates": [ { "allele": "A", "end": 461, "referenceAllele": "G", "start": 460 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146883.2:n.461G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS731327" } ], "type": "nucleotide" }