{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA013334", "communityStandardTitle": [ "NM_001048174.2(MUTYH):c.228C>A (p.Tyr76Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20335[alleleid]", "alleleId": 20335, "preferredName": "NM_001048174.2(MUTYH):c.228C>A (p.Tyr76Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5296", "RCV": [ "RCV000005617", "RCV000163049", "RCV000486820", "RCV000661934", "RCV001353649", "RCV002496270" ], "variationId": 5296 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/1-45799121-G-T", "id": "1-45799121-G-T", "variant": "1:45799121 G / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.45799121G>T?assembly=hg19", "id": "chr1:g.45799121G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.45333449G>T?assembly=hg38", "id": "chr1:g.45333449G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121908380", "rs": 121908380 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-45799121-G-T?dataset=gnomad_r2_1", "id": "1-45799121-G-T", "variant": "1:45799121 G / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-45333449-G-T?dataset=gnomad_r3", "id": "1-45333449-G-T", "variant": "1:45333449 G / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-45333449-G-T?dataset=gnomad_r4", "id": "1-45333449-G-T", "variant": "1:45333449 G / T" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 45333449, "referenceAllele": "G", "start": 45333448 } ], "hgvs": [ "NC_000001.11:g.45333449G>T", "CM000663.2:g.45333449G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 45799121, "referenceAllele": "G", "start": 45799120 } ], "hgvs": [ "NC_000001.10:g.45799121G>T", "CM000663.1:g.45799121G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 45571708, "referenceAllele": "G", "start": 45571707 } ], "hgvs": [ "NC_000001.9:g.45571708G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "A", "end": 12022, "referenceAllele": "C", "start": 12021 } ], "hgvs": [ "NG_008189.1:g.12022C>A", "LRG_220:g.12022C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000931" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 163, "endIntronDirection": "-", "endIntronOffset": 614, "referenceAllele": "C", "start": 163, "startIntronDirection": "-", "startIntronOffset": 615 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000412971.6:c.37-615C>A" ], "proteinEffect": { "hgvs": "ENSP00000410263.2:n.37-615C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914025" }, { "coordinates": [ { "allele": "A", "end": 412, "referenceAllele": "C", "start": 411 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000435155.2:c.261C>A" ], "proteinEffect": { "hgvs": "ENSP00000403655.2:p.Tyr87Ter", "hgvsWellDefined": "ENSP00000403655.2:p.Tyr87_Gln532delinsAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914061" }, { "coordinates": [ { "allele": "A", "end": 306, "referenceAllele": "C", "start": 305 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000467459.6:c.228C>A" ], "proteinEffect": { "hgvs": "ENSP00000435889.2:p.Tyr76Ter", "hgvsWellDefined": "ENSP00000435889.2:p.Tyr76_Pro386delinsAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysGlyPheGlyAspLeuArgSerGlnLeuProThrLeuAspSerAlaThrCysAlaCysLeuProArgSerProGlyThrArgProTrpGluTrpSerThrSerProGluArgProAlaAlaSerProProGlyArgArgAlaLeuProProValPheTrpAsnSerLeuGlyProLeuGlyProLysPheCysTrpCysArgGlyProThrGlnValCysTrpGlnAspCysGlySerSerArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914113" }, { "coordinates": [ { "allele": "A", "end": 752, "referenceAllele": "C", "start": 751 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000483127.2:c.246C>A" ], "proteinEffect": { "hgvs": "ENSP00000436469.2:p.Tyr82Ter", "hgvsWellDefined": "ENSP00000436469.2:p.Tyr82_Gln527delinsAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914139" }, { "coordinates": [ { "allele": "A", "end": 280, "referenceAllele": "C", "start": 279 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000485271.6:c.228C>A" ], "proteinEffect": { "hgvs": "ENSP00000431264.2:p.Tyr76Ter", "hgvsWellDefined": "ENSP00000431264.2:p.Tyr76_Met478delinsAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914144" }, { "coordinates": [ { "allele": "A", "end": 431, "referenceAllele": "C", "start": 430 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000529892.6:c.270C>A" ], "proteinEffect": { "hgvs": "ENSP00000432528.2:p.Tyr90Ter", "hgvsWellDefined": "ENSP00000432528.2:p.Tyr90_Gln472delinsAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914235" }, { "coordinates": [ { "allele": "A", "end": 121, "endIntronDirection": "-", "endIntronOffset": 761, "referenceAllele": "C", "start": 121, "startIntronDirection": "-", "startIntronOffset": 762 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000533178.6:c.116-762C>A" ], "proteinEffect": { "hgvs": "ENSP00000436430.2:n.116-762C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914245" }, { "coordinates": [ { "allele": "A", "end": 1358, "referenceAllele": "C", "start": 1357 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672314.2:c.228C>A" ], "proteinEffect": { "hgvs": "ENSP00000500828.2:p.Tyr76Ter", "hgvsWellDefined": "ENSP00000500828.2:p.Tyr76_Gln521delinsAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914444" }, { "coordinates": [ { "allele": "A", "end": 290, "referenceAllele": "C", "start": 289 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000674679.2:c.*140C>A" ], "proteinEffect": { "hgvs": "ENSP00000501623.2:n.*140C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914455" }, { "coordinates": [ { "allele": "A", "end": 498, "referenceAllele": "C", "start": 497 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000710952.2:c.312C>A" ], "proteinEffect": { "hgvs": "ENSP00000518552.2:p.Tyr104Ter", "hgvsWellDefined": "ENSP00000518552.2:p.Tyr104_Gln549delinsAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914573", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000710952.2:c.312C>A" }, "RefSeq": { "hgvs": "NM_001128425.2:c.312C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000518552.2:p.Tyr104Ter" }, "RefSeq": { "hgvs": "NP_001121897.1:p.Tyr104Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 489, "referenceAllele": "C", "start": 488 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672818.3:c.303C>A" ], "proteinEffect": { "hgvs": "ENSP00000500891.1:p.Tyr101Ter", "hgvsWellDefined": "ENSP00000500891.1:p.Tyr101_Gln546delinsAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS826866" }, { "coordinates": [ { "allele": "A", "end": 457, "referenceAllele": "C", "start": 456 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000450313.6:c.312C>A" ], "proteinEffect": { "hgvs": "ENSP00000408176.2:p.Tyr104Ter", "hgvsWellDefined": "ENSP00000408176.2:p.Tyr104_Cys226delinsAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaGluValAlaTyrThrAlaGlyProGlyGlnCysPheProGlyGlyGlyGluSerThrLeuGlyTrpProGlyLeuLeuPheSerTrpProAlaAlaAlaGlyGlySerSerGluGlyGlyArgGlyAlaArgGlyProHisAlaThrTyrSerArgAspProAlaAlaAlaProAlaTrpArgGlyAlaLeuHisSerTrpGlyHisCysLeuTyrArgLeuTrpProGlyAsnArgCysGlyGlyTrpGlnArgSerThrGlyAlaValProCysProSerHisTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS756282" }, { "coordinates": [ { "allele": "A", "end": 306, "referenceAllele": "C", "start": 305 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000456914.7:c.228C>A" ], "proteinEffect": { "hgvs": "ENSP00000407590.2:p.Tyr76Ter", "hgvsWellDefined": "ENSP00000407590.2:p.Tyr76_Gln521delinsAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS756574", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000456914.7:c.228C>A" }, "RefSeq": { "hgvs": "NM_001048174.2:c.228C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000407590.2:p.Tyr76Ter" }, "RefSeq": { "hgvs": "NP_001041639.1:p.Tyr76Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 366, "referenceAllele": "C", "start": 365 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000461495.6:c.*41C>A" ], "proteinEffect": { "hgvs": "ENSP00000437166.1:n.*41C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS756715" }, { "coordinates": [ { "allele": "A", "end": 248, "referenceAllele": "C", "start": 247 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000671856.1:n.248C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773188" }, { "coordinates": [ { "allele": "A", "end": 1206, "referenceAllele": "C", "start": 1205 } ], "hgvs": [ "ENST00000671898.1:c.816C>A" ], "proteinEffect": { "hgvs": "ENSP00000499896.1:p.Tyr272Ter", "hgvsWellDefined": "ENSP00000499896.1:p.Tyr272_Met674delinsAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773205" }, { "coordinates": [ { "allele": "A", "end": 909, "referenceAllele": "C", "start": 908 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672011.1:c.270C>A" ], "proteinEffect": { "hgvs": "ENSP00000500418.1:p.Tyr90Ter", "hgvsWellDefined": "ENSP00000500418.1:p.Tyr90_Cys212delinsAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaGluValAlaTyrThrAlaGlyProGlyGlnCysPheProGlyGlyGlyGluSerThrLeuGlyTrpProGlyLeuLeuPheSerTrpProAlaAlaAlaGlyGlySerSerGluGlyGlyArgGlyAlaArgGlyProHisAlaThrTyrSerArgAspProAlaAlaAlaProAlaTrpArgGlyAlaLeuHisSerTrpGlyHisCysLeuTyrArgLeuTrpProGlyAsnArgCysGlyGlyTrpGlnArgSerThrGlyAlaValProCysProSerHisTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773239" }, { "coordinates": [ { "allele": "A", "end": 1358, "referenceAllele": "C", "start": 1357 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672314.1:c.228C>A" ], "proteinEffect": { "hgvs": "ENSP00000500828.1:p.Tyr76Ter", "hgvsWellDefined": "ENSP00000500828.1:p.Tyr76_Phe466del" }, "referenceSequence": "http://reg.genome.network/refseq/RS773342" }, { "coordinates": [ { "allele": "A", "end": 625, "referenceAllele": "C", "start": 624 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672593.1:c.*41C>A" ], "proteinEffect": { "hgvs": "ENSP00000500455.1:n.*41C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773427" }, { "coordinates": [ { "allele": "A", "end": 376, "referenceAllele": "C", "start": 375 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672764.1:c.261C>A" ], "proteinEffect": { "hgvs": "ENSP00000500886.1:p.Tyr87Ter", "hgvsWellDefined": "ENSP00000500886.1:p.Tyr87_Cys209delinsAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaGluValAlaTyrThrAlaGlyProGlyGlnCysPheProGlyGlyGlyGluSerThrLeuGlyTrpProGlyLeuLeuPheSerTrpProAlaAlaAlaGlyGlySerSerGluGlyGlyArgGlyAlaArgGlyProHisAlaThrTyrSerArgAspProAlaAlaAlaProAlaTrpArgGlyAlaLeuHisSerTrpGlyHisCysLeuTyrArgLeuTrpProGlyAsnArgCysGlyGlyTrpGlnArgSerThrGlyAlaValProCysProSerHisTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773483" }, { "coordinates": [ { "allele": "A", "end": 437, "referenceAllele": "C", "start": 436 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672818.2:c.303C>A" ], "proteinEffect": { "hgvs": "ENSP00000500891.1:p.Tyr101Ter", "hgvsWellDefined": "ENSP00000500891.1:p.Tyr101_Gln546delinsAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773501" }, { "coordinates": [ { "allele": "A", "end": 206, "referenceAllele": "C", "start": 205 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000673134.1:c.*41C>A" ], "proteinEffect": { "hgvs": "ENSP00000500526.1:n.*41C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773595" }, { "coordinates": [ { "allele": "A", "end": 256, "referenceAllele": "C", "start": 255 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000674679.1:c.256C>A" ], "proteinEffect": { "hgvs": "ENSP00000501623.1:n.256C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS774613" }, { "coordinates": [ { "allele": "A", "end": 342, "referenceAllele": "C", "start": 341 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000354383.10:c.231C>A" ], "proteinEffect": { "hgvs": "ENSP00000346354.6:p.Tyr77Ter", "hgvsWellDefined": "ENSP00000346354.6:p.Tyr77_Gln522delinsAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247302" }, { "coordinates": [ { "allele": "A", "end": 374, "referenceAllele": "C", "start": 373 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000355498.6:c.228C>A" ], "proteinEffect": { "hgvs": "ENSP00000347685.2:p.Tyr76Ter", "hgvsWellDefined": "ENSP00000347685.2:p.Tyr76_Gln521delinsAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247152" }, { "coordinates": [ { "allele": "A", "end": 437, "referenceAllele": "C", "start": 436 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372098.7:c.303C>A" ], "proteinEffect": { "hgvs": "ENSP00000361170.3:p.Tyr101Ter", "hgvsWellDefined": "ENSP00000361170.3:p.Tyr101_Gln546delinsAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247324" }, { "coordinates": [ { "allele": "A", "end": 421, "referenceAllele": "C", "start": 420 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372104.5:c.228C>A" ], "proteinEffect": { "hgvs": "ENSP00000361176.1:p.Tyr76Ter", "hgvsWellDefined": "ENSP00000361176.1:p.Tyr76_Gln521delinsAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247419" }, { "coordinates": [ { "allele": "A", "end": 407, "referenceAllele": "C", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372110.7:c.273C>A" ], "proteinEffect": { "hgvs": "ENSP00000361182.3:p.Tyr91Ter", "hgvsWellDefined": "ENSP00000361182.3:p.Tyr91_Gln536delinsAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247212" }, { "coordinates": [ { "allele": "A", "end": 486, "referenceAllele": "C", "start": 485 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372115.7:c.270C>A" ], "proteinEffect": { "hgvs": "ENSP00000361187.3:p.Tyr90Ter", "hgvsWellDefined": "ENSP00000361187.3:p.Tyr90_Gln535delinsAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247144" }, { "coordinates": [ { "allele": "A", "end": 163, "endIntronDirection": "-", "endIntronOffset": 614, "referenceAllele": "C", "start": 163, "startIntronDirection": "-", "startIntronOffset": 615 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000412971.5:c.37-615C>A" ], "proteinEffect": { "hgvs": "ENSP00000410263.1:n.37-615C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS247381" }, { "coordinates": [ { "allele": "A", "end": 292, "referenceAllele": "C", "start": 291 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000435155.1:c.261C>A" ], "proteinEffect": { "hgvs": "ENSP00000403655.1:p.Tyr87Ter", "hgvsWellDefined": "ENSP00000403655.1:p.Tyr87_Ala291del" }, "referenceSequence": "http://reg.genome.network/refseq/RS247282" }, { "coordinates": [ { "allele": "A", "end": 304, "referenceAllele": "C", "start": 303 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000448481.5:c.261C>A" ], "proteinEffect": { "hgvs": "ENSP00000409718.1:p.Tyr87Ter", "hgvsWellDefined": "ENSP00000409718.1:p.Tyr87_Gln532delinsAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS246647" }, { "coordinates": [ { "allele": "A", "end": 528, "referenceAllele": "C", "start": 527 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000450313.5:c.312C>A" ], "proteinEffect": { "hgvs": "ENSP00000408176.1:p.Tyr104Ter", "hgvsWellDefined": "ENSP00000408176.1:p.Tyr104_Gln549delinsAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247417" }, { "coordinates": [ { "allele": "A", "end": 290, "referenceAllele": "C", "start": 289 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000456914.6:c.228C>A" ], "proteinEffect": { "hgvs": "ENSP00000407590.2:p.Tyr76Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS247236" }, { "coordinates": [ { "allele": "A", "end": 367, "referenceAllele": "C", "start": 366 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000461495.5:c.*41C>A" ], "proteinEffect": { "hgvs": "ENSP00000437166.1:n.*41C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS305992" }, { "coordinates": [ { "allele": "A", "end": 335, "endIntronDirection": "-", "endIntronOffset": 124, "referenceAllele": "C", "start": 335, "startIntronDirection": "-", "startIntronOffset": 125 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000462387.5:n.336-125C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS306656" }, { "coordinates": [ { "allele": "A", "end": 422, "referenceAllele": "C", "start": 421 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, 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"geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000483127.1:c.246C>A" ], "proteinEffect": { "hgvs": "ENSP00000436469.1:p.Tyr82Ter", "hgvsWellDefined": "ENSP00000436469.1:p.Tyr82_Arg94del" }, "referenceSequence": "http://reg.genome.network/refseq/RS247227" }, { "coordinates": [ { "allele": "A", "end": 409, "referenceAllele": "C", "start": 408 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000483642.5:n.409C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS323061" }, { "coordinates": [ { "allele": "A", "end": 278, "referenceAllele": "C", "start": 277 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000485484.5:n.278C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS324499" }, { "coordinates": [ { "allele": "A", "end": 141, "endIntronDirection": "-", "endIntronOffset": 614, "referenceAllele": "C", "start": 141, "startIntronDirection": "-", "startIntronOffset": 615 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000488731.6:c.116-615C>A" ], "proteinEffect": { "hgvs": "ENSP00000432330.1:n.116-615C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS247146" }, { "coordinates": [ { "allele": "A", "end": 291, "referenceAllele": "C", "start": 290 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000492494.5:n.291C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS329864" }, { "coordinates": [ { "allele": "A", "end": 317, "endIntronDirection": "-", "endIntronOffset": 124, "referenceAllele": "C", "start": 317, "startIntronDirection": "-", "startIntronOffset": 125 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000525160.5:c.158-125C>A" ], "proteinEffect": { "hgvs": "ENSP00000431568.1:n.158-125C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS351225" }, { "coordinates": [ { "allele": "A", "end": 324, "referenceAllele": "C", "start": 323 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000528013.6:c.270C>A" ], "proteinEffect": { "hgvs": "ENSP00000433130.2:p.Tyr90Ter", "hgvsWellDefined": "ENSP00000433130.2:p.Tyr90_Gln535delinsAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247200" }, { "coordinates": [ { "allele": "A", "end": 350, "endIntronDirection": "-", "endIntronOffset": 614, "referenceAllele": "C", "start": 350, "startIntronDirection": "-", "startIntronOffset": 615 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000529984.5:c.116-615C>A" ], "proteinEffect": { "hgvs": "ENSP00000437093.1:n.116-615C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS247331" }, { "coordinates": [ { "allele": "A", "end": 309, "endIntronDirection": "+", "endIntronOffset": 942, "referenceAllele": "C", "start": 309, "startIntronDirection": "+", "startIntronOffset": 941 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000531105.5:c.115+942C>A" ], "proteinEffect": { "hgvs": "ENSP00000431292.1:n.115+942C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS246639" }, { "coordinates": [ { "allele": "A", "end": 121, "endIntronDirection": "-", "endIntronOffset": 761, "referenceAllele": "C", "start": 121, "startIntronDirection": "-", "startIntronOffset": 762 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000533178.5:c.122-762C>A" ], "proteinEffect": { "hgvs": "ENSP00000436430.1:n.122-762C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS357989" }, { "@id": "http://reg.genome.network/allele/PA645455559", "coordinates": [ { "allele": "A", "end": 486, "referenceAllele": "C", "start": 485 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048171.1:c.270C>A" ], "proteinEffect": { "hgvs": "NP_001041636.1:p.Tyr90Ter", "hgvsWellDefined": "NP_001041636.1:p.Tyr90_Gln535delinsAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009856" }, { "@id": "http://reg.genome.network/allele/PA2825427632", "coordinates": [ { "allele": "A", "end": 377, "referenceAllele": "C", "start": 376 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048172.1:c.231C>A" ], "proteinEffect": { "hgvs": "NP_001041637.1:p.Tyr77Ter", "hgvsWellDefined": "NP_001041637.1:p.Tyr77_Gln522delinsAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009857" }, { "@id": "http://reg.genome.network/allele/PA2825429240", "coordinates": [ { "allele": "A", "end": 374, "referenceAllele": "C", "start": 373 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048173.1:c.228C>A" ], "proteinEffect": { "hgvs": "NP_001041638.1:p.Tyr76Ter", "hgvsWellDefined": "NP_001041638.1:p.Tyr76_Gln521delinsAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009858" }, { "@id": "http://reg.genome.network/allele/PA2825430851", "coordinates": [ { "allele": "A", "end": 293, "referenceAllele": "C", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048174.1:c.228C>A" ], "proteinEffect": { "hgvs": "NP_001041639.1:p.Tyr76Ter", "hgvsWellDefined": "NP_001041639.1:p.Tyr76_Gln521delinsAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009859" }, { "@id": "http://reg.genome.network/allele/PA187322", "coordinates": [ { "allele": "A", "end": 528, "referenceAllele": "C", "start": 527 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001128425.1:c.312C>A", "LRG_220t1:c.312C>A" ], "proteinEffect": { "hgvs": "NP_001121897.1:p.Tyr104Ter", "hgvsWellDefined": "NP_001121897.1:p.Tyr104_Gln549delinsAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011778" }, { "@id": "http://reg.genome.network/allele/PA916018631", "coordinates": [ { "allele": "A", "end": 489, "referenceAllele": "C", "start": 488 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293190.1:c.273C>A" ], "proteinEffect": { "hgvs": "NP_001280119.1:p.Tyr91Ter", "hgvsWellDefined": "NP_001280119.1:p.Tyr91_Gln536delinsAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024498" }, { "@id": "http://reg.genome.network/allele/PA2826824937", "coordinates": [ { "allele": "A", "end": 326, "referenceAllele": "C", "start": 325 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293191.1:c.261C>A" ], "proteinEffect": { "hgvs": "NP_001280120.1:p.Tyr87Ter", "hgvsWellDefined": "NP_001280120.1:p.Tyr87_Gln532delinsAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024499" }, { "coordinates": [ { "allele": "A", "end": 422, "referenceAllele": "C", "start": 421 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293192.1:c.-49C>A" ], "proteinEffect": { "hgvs": "NP_001280121.1:n.-49C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS024500" }, { "@id": "http://reg.genome.network/allele/PA2826827866", "coordinates": [ { "allele": "A", "end": 443, "referenceAllele": "C", "start": 442 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293195.1:c.228C>A" ], "proteinEffect": { "hgvs": "NP_001280124.1:p.Tyr76Ter", "hgvsWellDefined": "NP_001280124.1:p.Tyr76_Gln521delinsAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024502" }, { "coordinates": [ { "allele": "A", "end": 311, "referenceAllele": "C", "start": 310 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293196.1:c.-49C>A" ], "proteinEffect": { "hgvs": "NP_001280125.1:n.-49C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS024503" }, { "@id": "http://reg.genome.network/allele/PA2829725747", "coordinates": [ { "allele": "A", "end": 519, "referenceAllele": "C", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_012222.2:c.303C>A" ], "proteinEffect": { "hgvs": "NP_036354.1:p.Tyr101Ter", "hgvsWellDefined": "NP_036354.1:p.Tyr101_Gln546delinsAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032407" }, { "coordinates": [ { "allele": "A", "end": 591, "referenceAllele": "C", "start": 590 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541497.1:c.288C>A" ], "proteinEffect": { "hgvs": "XP_011539799.1:p.Tyr96Ter", "hgvsWellDefined": "XP_011539799.1:p.Tyr96_Gln541delinsAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108434" }, { "coordinates": [ { "allele": "A", "end": 363, "referenceAllele": "C", "start": 362 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541498.1:c.270C>A" ], "proteinEffect": { "hgvs": "XP_011539800.1:p.Tyr90Ter", "hgvsWellDefined": "XP_011539800.1:p.Tyr90_Gln535delinsAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108435" }, { "coordinates": [ { "allele": "A", "end": 349, "referenceAllele": "C", "start": 348 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541499.1:c.270C>A" ], "proteinEffect": { "hgvs": "XP_011539801.1:p.Tyr90Ter", "hgvsWellDefined": "XP_011539801.1:p.Tyr90_Gln535delinsAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108436" }, { "coordinates": [ { "allele": "A", "end": 526, "referenceAllele": "C", "start": 525 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541500.1:c.270C>A" ], "proteinEffect": { "hgvs": "XP_011539802.1:p.Tyr90Ter", "hgvsWellDefined": "XP_011539802.1:p.Tyr90_Gln535delinsAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108437" }, { "coordinates": [ { "allele": "A", "end": 474, "referenceAllele": "C", "start": 473 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541501.1:c.270C>A" ], "proteinEffect": { "hgvs": "XP_011539803.1:p.Tyr90Ter", "hgvsWellDefined": "XP_011539803.1:p.Tyr90_Gln535delinsAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108438" }, { "coordinates": [ { "allele": "A", "end": 507, "referenceAllele": "C", "start": 506 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541502.1:c.270C>A" ], "proteinEffect": { "hgvs": "XP_011539804.1:p.Tyr90Ter", "hgvsWellDefined": "XP_011539804.1:p.Tyr90_Gln535delinsAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108439" }, { "coordinates": [ { "allele": "A", "end": 359, "referenceAllele": "C", "start": 358 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541503.1:c.312C>A" ], "proteinEffect": { "hgvs": "XP_011539805.1:p.Tyr104Ter", "hgvsWellDefined": "XP_011539805.1:p.Tyr104_Gln535delinsAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108440" }, { "coordinates": [ { "allele": "A", "end": 383, "referenceAllele": "C", "start": 382 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541504.1:c.261C>A" ], "proteinEffect": { "hgvs": "XP_011539806.1:p.Tyr87Ter", "hgvsWellDefined": "XP_011539806.1:p.Tyr87_Gln532delinsAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108441" }, { "coordinates": [ { "allele": "A", "end": 210, "endIntronDirection": "-", "endIntronOffset": 614, "referenceAllele": "C", "start": 210, "startIntronDirection": "-", "startIntronOffset": 615 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541505.1:c.43-615C>A" ], "proteinEffect": { "hgvs": "XP_011539807.1:n.43-615C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS108442" }, { "coordinates": [ { "allele": "A", "end": 208, "endIntronDirection": "-", "endIntronOffset": 614, "referenceAllele": "C", "start": 208, "startIntronDirection": "-", "startIntronOffset": 615 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541506.1:c.43-615C>A" ], "proteinEffect": { "hgvs": "XP_011539808.1:n.43-615C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS108443" }, { "coordinates": [ { "allele": "A", "end": 359, "referenceAllele": "C", "start": 358 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_946658.1:n.359C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS140241" }, { "coordinates": [ { "allele": "A", "end": 486, "referenceAllele": "C", "start": 485 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350650.1:c.-44C>A" ], "proteinEffect": { "hgvs": "NP_001337579.1:n.-44C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS519533" }, { "coordinates": [ { "allele": "A", "end": 422, "referenceAllele": "C", "start": 421 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350651.1:c.-44C>A" ], "proteinEffect": { "hgvs": "NP_001337580.1:n.-44C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS519534" }, { "coordinates": [ { "allele": "A", "end": 486, "referenceAllele": "C", "start": 485 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146882.1:n.486C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS530438" }, { "coordinates": [ { "allele": "A", "end": 374, "referenceAllele": "C", "start": 373 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146883.1:n.374C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS530439" }, { "coordinates": [ { "allele": "A", "end": 586, "referenceAllele": "C", "start": 585 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541497.3:c.288C>A" ], "proteinEffect": { "hgvs": "XP_011539799.1:p.Tyr96Ter", "hgvsWellDefined": "XP_011539799.1:p.Tyr96_Gln541delinsAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554460" }, { "coordinates": [ { "allele": "A", "end": 564, "referenceAllele": "C", "start": 563 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541500.3:c.270C>A" ], "proteinEffect": { "hgvs": "XP_011539802.1:p.Tyr90Ter", "hgvsWellDefined": "XP_011539802.1:p.Tyr90_Gln535delinsAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554461" }, { "coordinates": [ { "allele": "A", "end": 458, "referenceAllele": "C", "start": 457 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541501.2:c.270C>A" ], "proteinEffect": { "hgvs": "XP_011539803.1:p.Tyr90Ter", "hgvsWellDefined": "XP_011539803.1:p.Tyr90_Gln535delinsAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554462" }, { "coordinates": [ { "allele": "A", "end": 363, "referenceAllele": "C", "start": 362 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541502.2:c.270C>A" ], "proteinEffect": { "hgvs": "XP_011539804.1:p.Tyr90Ter", "hgvsWellDefined": "XP_011539804.1:p.Tyr90_Gln535delinsAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554463" }, { "coordinates": [ { "allele": "A", "end": 373, "referenceAllele": "C", "start": 372 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541503.2:c.312C>A" ], "proteinEffect": { "hgvs": "XP_011539805.1:p.Tyr104Ter", "hgvsWellDefined": "XP_011539805.1:p.Tyr104_Gln535delinsAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554464" }, { "coordinates": [ { "allele": "A", "end": 412, "referenceAllele": "C", "start": 411 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541504.2:c.261C>A" ], "proteinEffect": { "hgvs": "XP_011539806.1:p.Tyr87Ter", "hgvsWellDefined": "XP_011539806.1:p.Tyr87_Gln532delinsAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554465" }, { "coordinates": [ { "allele": "A", "end": 224, "endIntronDirection": "-", "endIntronOffset": 614, "referenceAllele": "C", "start": 224, "startIntronDirection": "-", "startIntronOffset": 615 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541505.2:c.43-615C>A" ], "proteinEffect": { "hgvs": "XP_011539807.1:n.43-615C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS554466" }, { "coordinates": [ { "allele": "A", "end": 266, "endIntronDirection": "-", "endIntronOffset": 614, "referenceAllele": "C", "start": 266, "startIntronDirection": "-", "startIntronOffset": 615 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541506.2:c.43-615C>A" ], "proteinEffect": { "hgvs": "XP_011539808.1:n.43-615C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS554467" }, { 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"XP_016856820.1:p.Tyr90_Gln535delinsAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557533" }, { "coordinates": [ { "allele": "A", "end": 364, "referenceAllele": "C", "start": 363 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001332.1:c.270C>A" ], "proteinEffect": { "hgvs": "XP_016856821.1:p.Tyr90Ter", "hgvsWellDefined": "XP_016856821.1:p.Tyr90_Gln535delinsAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557534" }, { "coordinates": [ { "allele": "A", "end": 417, "referenceAllele": "C", "start": 416 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001333.1:c.270C>A" ], "proteinEffect": { "hgvs": "XP_016856822.1:p.Tyr90Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS557535" }, { "coordinates": [ { "allele": "A", "end": 310, "referenceAllele": "C", "start": 309 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001334.1:c.231C>A" ], "proteinEffect": { "hgvs": "XP_016856823.1:p.Tyr77Ter", "hgvsWellDefined": "XP_016856823.1:p.Tyr77_Gln522delinsAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557536" }, { "coordinates": [ { "allele": "A", "end": 256, "referenceAllele": "C", "start": 255 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001335.1:c.-49C>A" ], "proteinEffect": { "hgvs": "XP_016856824.1:n.-49C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS557537" }, { "coordinates": [ { "allele": "A", "end": 414, "referenceAllele": "C", "start": 413 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001336.1:c.-44C>A" ], "proteinEffect": { "hgvs": "XP_016856825.1:n.-44C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS557538" }, { "coordinates": [ { "allele": "A", "end": 354, "referenceAllele": "C", "start": 353 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001337.1:c.-44C>A" ], "proteinEffect": { "hgvs": "XP_016856826.1:n.-44C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS557539" }, { "coordinates": [ { "allele": "A", "end": 379, "referenceAllele": "C", "start": 378 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447244.1:c.-44C>A" ], "proteinEffect": { "hgvs": "XP_024303012.1:n.-44C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS580832" }, { "coordinates": [ { "allele": "A", "end": 324, "referenceAllele": "C", "start": 323 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447245.1:c.-44C>A" ], "proteinEffect": { "hgvs": "XP_024303013.1:n.-44C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS580833" }, { "coordinates": [ { "allele": "A", "end": 337, "referenceAllele": "C", "start": 336 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447248.1:c.-44C>A" ], "proteinEffect": { "hgvs": "XP_024303016.1:n.-44C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS580836" }, { "coordinates": [ { "allele": "A", "end": 322, "referenceAllele": "C", "start": 321 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447249.1:c.-540C>A" ], "proteinEffect": { "hgvs": "XP_024303017.1:n.-540C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS580837" }, { "coordinates": [ { "allele": "A", "end": 323, "referenceAllele": "C", "start": 322 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447250.1:c.-540C>A" ], "proteinEffect": { "hgvs": "XP_024303018.1:n.-540C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS580838" }, { "coordinates": [ { "allele": "A", "end": 199, "referenceAllele": "C", "start": 198 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447251.1:c.-298C>A" ], "proteinEffect": { "hgvs": "XP_024303019.1:n.-298C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS580839" }, { "coordinates": [ { "allele": "A", "end": 273, "referenceAllele": "C", "start": 272 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_001737190.1:n.273C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS587991" }, { "coordinates": [ { "allele": "A", "end": 201, "referenceAllele": "C", "start": 200 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_001737192.1:n.201C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS587992" }, { "coordinates": [ { "allele": "A", "end": 381, "referenceAllele": "C", "start": 380 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_002956643.1:n.381C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS602781" }, { "coordinates": [ { "allele": "A", "end": 466, "referenceAllele": "C", "start": 465 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_002956644.1:n.466C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS602782" }, { "coordinates": [ { "allele": "A", "end": 373, "referenceAllele": "C", "start": 372 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_946658.2:n.373C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS614413" }, { "@id": "http://reg.genome.network/allele/PA2825426018", "coordinates": [ { "allele": "A", "end": 456, "referenceAllele": "C", "start": 455 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048171.2:c.228C>A" ], "proteinEffect": { "hgvs": "NP_001041636.2:p.Tyr76Ter", "hgvsWellDefined": "NP_001041636.2:p.Tyr76_Gln521delinsAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676107" }, { "@id": "http://reg.genome.network/allele/PA187322", "coordinates": [ { "allele": "A", "end": 498, "referenceAllele": "C", "start": 497 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001128425.2:c.312C>A" ], "proteinEffect": { "hgvs": "NP_001121897.1:p.Tyr104Ter", "hgvsWellDefined": "NP_001121897.1:p.Tyr104_Gln549delinsAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676985", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000710952.2:c.312C>A" }, "RefSeq": { "hgvs": "NM_001128425.2:c.312C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000518552.2:p.Tyr104Ter" }, "RefSeq": { "hgvs": "NP_001121897.1:p.Tyr104Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825427632", "coordinates": [ { "allele": "A", "end": 382, "referenceAllele": "C", "start": 381 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048172.2:c.231C>A" ], "proteinEffect": { "hgvs": "NP_001041637.1:p.Tyr77Ter", "hgvsWellDefined": "NP_001041637.1:p.Tyr77_Gln522delinsAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711730" }, { "@id": "http://reg.genome.network/allele/PA2825429240", "coordinates": [ { "allele": "A", "end": 379, "referenceAllele": "C", "start": 378 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048173.2:c.228C>A" ], "proteinEffect": { "hgvs": "NP_001041638.1:p.Tyr76Ter", "hgvsWellDefined": "NP_001041638.1:p.Tyr76_Gln521delinsAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711731" }, { "@id": "http://reg.genome.network/allele/PA2825430851", "coordinates": [ { "allele": "A", "end": 306, "referenceAllele": "C", "start": 305 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048174.2:c.228C>A" ], "proteinEffect": { "hgvs": "NP_001041639.1:p.Tyr76Ter", "hgvsWellDefined": "NP_001041639.1:p.Tyr76_Gln521delinsAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711732", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000456914.7:c.228C>A" }, "RefSeq": { "hgvs": "NM_001048174.2:c.228C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000407590.2:p.Tyr76Ter" }, "RefSeq": { "hgvs": "NP_001041639.1:p.Tyr76Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA916018631", "coordinates": [ { "allele": "A", "end": 459, "referenceAllele": "C", "start": 458 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293190.2:c.273C>A" ], "proteinEffect": { "hgvs": "NP_001280119.1:p.Tyr91Ter", "hgvsWellDefined": "NP_001280119.1:p.Tyr91_Gln536delinsAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716759" }, { "@id": "http://reg.genome.network/allele/PA2826824937", "coordinates": [ { "allele": "A", "end": 339, "referenceAllele": "C", "start": 338 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293191.2:c.261C>A" ], "proteinEffect": { "hgvs": "NP_001280120.1:p.Tyr87Ter", "hgvsWellDefined": "NP_001280120.1:p.Tyr87_Gln532delinsAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716760" }, { "coordinates": [ { "allele": "A", "end": 392, "referenceAllele": "C", "start": 391 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293192.2:c.-49C>A" ], "proteinEffect": { "hgvs": "NP_001280121.1:n.-49C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS716761" }, { "@id": "http://reg.genome.network/allele/PA2826827866", "coordinates": [ { "allele": "A", "end": 456, "referenceAllele": "C", "start": 455 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293195.2:c.228C>A" ], "proteinEffect": { "hgvs": "NP_001280124.1:p.Tyr76Ter", "hgvsWellDefined": "NP_001280124.1:p.Tyr76_Gln521delinsAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716762" }, { "coordinates": [ { "allele": "A", "end": 315, "referenceAllele": "C", "start": 314 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293196.2:c.-49C>A" ], "proteinEffect": { "hgvs": "NP_001280125.1:n.-49C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS716763" }, { "coordinates": [ { "allele": "A", "end": 456, "referenceAllele": "C", "start": 455 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350650.2:c.-44C>A" ], "proteinEffect": { "hgvs": "NP_001337579.1:n.-44C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS719606" }, { "coordinates": [ { "allele": "A", "end": 392, "referenceAllele": "C", "start": 391 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350651.2:c.-44C>A" ], "proteinEffect": { "hgvs": "NP_001337580.1:n.-44C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS719607" }, { "@id": "http://reg.genome.network/allele/PA2829725747", "coordinates": [ { "allele": "A", "end": 489, "referenceAllele": "C", "start": 488 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_012222.3:c.303C>A" ], "proteinEffect": { "hgvs": "NP_036354.1:p.Tyr101Ter", "hgvsWellDefined": "NP_036354.1:p.Tyr101_Gln546delinsAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727852" }, { "coordinates": [ { "allele": "A", "end": 456, "referenceAllele": "C", "start": 455 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146882.2:n.456C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS731326" }, { "coordinates": [ { "allele": "A", "end": 379, "referenceAllele": "C", "start": 378 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146883.2:n.379C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS731327" } ], "type": "nucleotide" }