{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA10577735", "communityStandardTitle": [ "NM_001048174.2(MUTYH):c.379A>T (p.Lys127Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=232267[alleleid]", "alleleId": 232267, "preferredName": "NM_001048174.2(MUTYH):c.379A>T (p.Lys127Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/234000", "RCV": [ "RCV000216618", "RCV000485126", "RCV000707329" ], "variationId": 234000 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.45798631T>A?assembly=hg19", "id": "chr1:g.45798631T>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.45332959T>A?assembly=hg38", "id": "chr1:g.45332959T>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/876660787", "rs": 876660787 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-45798631-T-A?dataset=gnomad_r2_1", "id": "1-45798631-T-A", "variant": "1:45798631 T / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-45332959-T-A?dataset=gnomad_r4", "id": "1-45332959-T-A", "variant": "1:45332959 T / A" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 45332959, "referenceAllele": "T", "start": 45332958 } ], "hgvs": [ "NC_000001.11:g.45332959T>A", "CM000663.2:g.45332959T>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 45798631, "referenceAllele": "T", "start": 45798630 } ], "hgvs": [ "NC_000001.10:g.45798631T>A", "CM000663.1:g.45798631T>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 45571218, "referenceAllele": "T", "start": 45571217 } ], "hgvs": [ "NC_000001.9:g.45571218T>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "T", "end": 12512, "referenceAllele": "A", "start": 12511 } ], "hgvs": [ "NG_008189.1:g.12512A>T", "LRG_220:g.12512A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000931" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 163, "endIntronDirection": "-", "endIntronOffset": 124, "referenceAllele": "A", "start": 163, "startIntronDirection": "-", "startIntronOffset": 125 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000412971.6:c.37-125A>T" ], "proteinEffect": { "hgvs": "ENSP00000410263.2:n.37-125A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS914025" }, { "coordinates": [ { "allele": "T", "end": 563, "referenceAllele": "A", "start": 562 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000435155.2:c.412A>T" ], "proteinEffect": { "hgvs": "ENSP00000403655.2:p.Lys138Ter", "hgvsWellDefined": "ENSP00000403655.2:p.Lys138_Gln532delinsTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914061" }, { "coordinates": [ { "allele": "T", "end": 457, "referenceAllele": "A", "start": 456 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000467459.6:c.379A>T" ], "proteinEffect": { "hgvs": "ENSP00000435889.2:p.Lys127Ter", "hgvsWellDefined": "ENSP00000435889.2:p.Lys127_Pro386delinsTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysGlyPheGlyAspLeuArgSerGlnLeuProThrLeuAspSerAlaThrCysAlaCysLeuProArgSerProGlyThrArgProTrpGluTrpSerThrSerProGluArgProAlaAlaSerProProGlyArgArgAlaLeuProProValPheTrpAsnSerLeuGlyProLeuGlyProLysPheCysTrpCysArgGlyProThrGlnValCysTrpGlnAspCysGlySerSerArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914113" }, { "coordinates": [ { "allele": "T", "end": 903, "referenceAllele": "A", "start": 902 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000483127.2:c.397A>T" ], "proteinEffect": { "hgvs": "ENSP00000436469.2:p.Lys133Ter", "hgvsWellDefined": "ENSP00000436469.2:p.Lys133_Gln527delinsTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914139" }, { "coordinates": [ { "allele": "T", "end": 431, "referenceAllele": "A", "start": 430 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000485271.6:c.379A>T" ], "proteinEffect": { "hgvs": "ENSP00000431264.2:p.Lys127Ter", "hgvsWellDefined": "ENSP00000431264.2:p.Lys127_Met478delinsTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914144" }, { "coordinates": [ { "allele": "T", "end": 582, "referenceAllele": "A", "start": 581 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000529892.6:c.421A>T" ], "proteinEffect": { "hgvs": "ENSP00000432528.2:p.Lys141Ter", "hgvsWellDefined": "ENSP00000432528.2:p.Lys141_Gln472delinsTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914235" }, { "coordinates": [ { "allele": "T", "end": 121, "endIntronDirection": "-", "endIntronOffset": 271, "referenceAllele": "A", "start": 121, "startIntronDirection": "-", "startIntronOffset": 272 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000533178.6:c.116-272A>T" ], "proteinEffect": { "hgvs": "ENSP00000436430.2:n.116-272A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS914245" }, { "coordinates": [ { "allele": "T", "end": 1509, "referenceAllele": "A", "start": 1508 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672314.2:c.379A>T" ], "proteinEffect": { "hgvs": "ENSP00000500828.2:p.Lys127Ter", "hgvsWellDefined": "ENSP00000500828.2:p.Lys127_Gln521delinsTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914444" }, { "coordinates": [ { "allele": "T", "end": 441, "referenceAllele": "A", "start": 440 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000674679.2:c.*291A>T" ], "proteinEffect": { "hgvs": "ENSP00000501623.2:n.*291A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS914455" }, { "coordinates": [ { "allele": "T", "end": 649, "referenceAllele": "A", "start": 648 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000710952.2:c.463A>T" ], "proteinEffect": { "hgvs": "ENSP00000518552.2:p.Lys155Ter", "hgvsWellDefined": "ENSP00000518552.2:p.Lys155_Gln549delinsTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914573", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000710952.2:c.463A>T" }, "RefSeq": { "hgvs": "NM_001128425.2:c.463A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000518552.2:p.Lys155Ter" }, "RefSeq": { "hgvs": "NP_001121897.1:p.Lys155Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 640, "referenceAllele": "A", "start": 639 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672818.3:c.454A>T" ], "proteinEffect": { "hgvs": "ENSP00000500891.1:p.Lys152Ter", "hgvsWellDefined": "ENSP00000500891.1:p.Lys152_Gln546delinsTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS826866" }, { "coordinates": [ { "allele": "T", "end": 534, "referenceAllele": "A", "start": 533 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000450313.6:c.389A>T" ], "proteinEffect": { "hgvs": "ENSP00000408176.2:p.Glu130Val", "hgvsWellDefined": "ENSP00000408176.2:p.Glu130Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS756282" }, { "coordinates": [ { "allele": "T", "end": 457, "referenceAllele": "A", "start": 456 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000456914.7:c.379A>T" ], "proteinEffect": { "hgvs": "ENSP00000407590.2:p.Lys127Ter", "hgvsWellDefined": "ENSP00000407590.2:p.Lys127_Gln521delinsTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS756574", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000456914.7:c.379A>T" }, "RefSeq": { "hgvs": "NM_001048174.2:c.379A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000407590.2:p.Lys127Ter" }, "RefSeq": { "hgvs": "NP_001041639.1:p.Lys127Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 443, "referenceAllele": "A", "start": 442 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000461495.6:c.*118A>T" ], "proteinEffect": { "hgvs": "ENSP00000437166.1:n.*118A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS756715" }, { "coordinates": [ { "allele": "T", "end": 325, "referenceAllele": "A", "start": 324 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000671856.1:n.325A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS773188" }, { "coordinates": [ { "allele": "T", "end": 1357, "referenceAllele": "A", "start": 1356 } ], "hgvs": [ "ENST00000671898.1:c.967A>T" ], "proteinEffect": { "hgvs": "ENSP00000499896.1:p.Lys323Ter", "hgvsWellDefined": "ENSP00000499896.1:p.Lys323_Met674delinsTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773205" }, { "coordinates": [ { "allele": "T", "end": 986, "referenceAllele": "A", "start": 985 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672011.1:c.347A>T" ], "proteinEffect": { "hgvs": "ENSP00000500418.1:p.Glu116Val", "hgvsWellDefined": "ENSP00000500418.1:p.Glu116Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS773239" }, { "coordinates": [ { "allele": "T", "end": 1509, "referenceAllele": "A", "start": 1508 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672314.1:c.379A>T" ], "proteinEffect": { "hgvs": "ENSP00000500828.1:p.Lys127Ter", "hgvsWellDefined": "ENSP00000500828.1:p.Lys127_Phe466del" }, "referenceSequence": "http://reg.genome.network/refseq/RS773342" }, { "coordinates": [ { "allele": "T", "end": 776, "referenceAllele": "A", "start": 775 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672593.1:c.*192A>T" ], "proteinEffect": { "hgvs": "ENSP00000500455.1:n.*192A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS773427" }, { "coordinates": [ { "allele": "T", "end": 453, "referenceAllele": "A", "start": 452 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672764.1:c.338A>T" ], "proteinEffect": { "hgvs": "ENSP00000500886.1:p.Glu113Val", "hgvsWellDefined": "ENSP00000500886.1:p.Glu113Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS773483" }, { "coordinates": [ { "allele": "T", "end": 588, "referenceAllele": "A", "start": 587 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672818.2:c.454A>T" ], "proteinEffect": { "hgvs": "ENSP00000500891.1:p.Lys152Ter", "hgvsWellDefined": "ENSP00000500891.1:p.Lys152_Gln546delinsTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773501" }, { "coordinates": [ { "allele": "T", "end": 282, "endIntronDirection": "-", "endIntronOffset": 124, "referenceAllele": "A", "start": 282, "startIntronDirection": "-", "startIntronOffset": 125 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000673134.1:c.*118-125A>T" ], "proteinEffect": { "hgvs": "ENSP00000500526.1:n.*118-125A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS773595" }, { "coordinates": [ { "allele": "T", "end": 407, "referenceAllele": "A", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000674679.1:c.407A>T" ], "proteinEffect": { "hgvs": "ENSP00000501623.1:n.407A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS774613" }, { "coordinates": [ { "allele": "T", "end": 493, "referenceAllele": "A", "start": 492 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000354383.10:c.382A>T" ], "proteinEffect": { "hgvs": "ENSP00000346354.6:p.Lys128Ter", "hgvsWellDefined": "ENSP00000346354.6:p.Lys128_Gln522delinsTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247302" }, { "coordinates": [ { "allele": "T", "end": 525, "referenceAllele": "A", "start": 524 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000355498.6:c.379A>T" ], "proteinEffect": { "hgvs": "ENSP00000347685.2:p.Lys127Ter", "hgvsWellDefined": "ENSP00000347685.2:p.Lys127_Gln521delinsTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247152" }, { "coordinates": [ { "allele": "T", "end": 588, "referenceAllele": "A", "start": 587 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372098.7:c.454A>T" ], "proteinEffect": { "hgvs": "ENSP00000361170.3:p.Lys152Ter", "hgvsWellDefined": "ENSP00000361170.3:p.Lys152_Gln546delinsTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247324" }, { "coordinates": [ { "allele": "T", "end": 572, "referenceAllele": "A", "start": 571 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372104.5:c.379A>T" ], "proteinEffect": { "hgvs": "ENSP00000361176.1:p.Lys127Ter", "hgvsWellDefined": "ENSP00000361176.1:p.Lys127_Gln521delinsTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247419" }, { "coordinates": [ { "allele": "T", "end": 558, "referenceAllele": "A", "start": 557 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372110.7:c.424A>T" ], "proteinEffect": { "hgvs": "ENSP00000361182.3:p.Lys142Ter", "hgvsWellDefined": "ENSP00000361182.3:p.Lys142_Gln536delinsTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247212" }, { "coordinates": [ { "allele": "T", "end": 637, "referenceAllele": "A", "start": 636 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372115.7:c.421A>T" ], "proteinEffect": { "hgvs": "ENSP00000361187.3:p.Lys141Ter", "hgvsWellDefined": "ENSP00000361187.3:p.Lys141_Gln535delinsTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" 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"referenceSequence": "http://reg.genome.network/refseq/RS324499" }, { "coordinates": [ { "allele": "T", "end": 141, "endIntronDirection": "-", "endIntronOffset": 124, "referenceAllele": "A", "start": 141, "startIntronDirection": "-", "startIntronOffset": 125 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000488731.6:c.116-125A>T" ], "proteinEffect": { "hgvs": "ENSP00000432330.1:n.116-125A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS247146" }, { "coordinates": [ { "allele": "T", "end": 693, "referenceAllele": "A", "start": 692 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000492494.5:n.693A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS329864" }, { "coordinates": [ { "allele": "T", "end": 358, "referenceAllele": "A", "start": 357 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000525160.5:c.*30A>T" ], "proteinEffect": { "hgvs": "ENSP00000431568.1:n.*30A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS351225" }, { "coordinates": [ { "allele": "T", "end": 475, "referenceAllele": "A", "start": 474 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000528013.6:c.421A>T" ], "proteinEffect": { "hgvs": "ENSP00000433130.2:p.Lys141Ter", "hgvsWellDefined": "ENSP00000433130.2:p.Lys141_Gln535delinsTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247200" }, { "coordinates": [ { "allele": "T", "end": 350, "endIntronDirection": "-", "endIntronOffset": 124, "referenceAllele": "A", "start": 350, "startIntronDirection": "-", "startIntronOffset": 125 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000529984.5:c.116-125A>T" ], "proteinEffect": { "hgvs": "ENSP00000437093.1:n.116-125A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS247331" }, { "coordinates": [ { "allele": "T", "end": 309, "endIntronDirection": "+", "endIntronOffset": 1432, "referenceAllele": "A", "start": 309, "startIntronDirection": "+", "startIntronOffset": 1431 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000531105.5:c.115+1432A>T" ], "proteinEffect": { "hgvs": "ENSP00000431292.1:n.115+1432A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS246639" }, { "coordinates": [ { "allele": "T", "end": 121, "endIntronDirection": "-", "endIntronOffset": 271, "referenceAllele": "A", "start": 121, "startIntronDirection": "-", "startIntronOffset": 272 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000533178.5:c.122-272A>T" ], "proteinEffect": { "hgvs": "ENSP00000436430.1:n.122-272A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS357989" }, { "coordinates": [ { "allele": "T", "end": 637, "referenceAllele": "A", "start": 636 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048171.1:c.421A>T" ], "proteinEffect": { "hgvs": "NP_001041636.1:p.Lys141Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS009856" }, { "@id": "http://reg.genome.network/allele/PA2825427774", "coordinates": [ { "allele": "T", "end": 528, "referenceAllele": "A", "start": 527 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048172.1:c.382A>T" ], "proteinEffect": { "hgvs": "NP_001041637.1:p.Lys128Ter", "hgvsWellDefined": "NP_001041637.1:p.Lys128_Gln522delinsTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009857" }, { "@id": "http://reg.genome.network/allele/PA2825429389", "coordinates": [ { "allele": "T", "end": 525, "referenceAllele": "A", "start": 524 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048173.1:c.379A>T" ], "proteinEffect": { "hgvs": "NP_001041638.1:p.Lys127Ter", "hgvsWellDefined": "NP_001041638.1:p.Lys127_Gln521delinsTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009858" }, { "@id": "http://reg.genome.network/allele/PA2825430997", "coordinates": [ { "allele": "T", "end": 444, "referenceAllele": "A", "start": 443 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048174.1:c.379A>T" ], "proteinEffect": { "hgvs": "NP_001041639.1:p.Lys127Ter", "hgvsWellDefined": "NP_001041639.1:p.Lys127_Gln521delinsTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009859" }, { "@id": "http://reg.genome.network/allele/PA645509936", "coordinates": [ { "allele": "T", "end": 679, "referenceAllele": "A", "start": 678 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001128425.1:c.463A>T", "LRG_220t1:c.463A>T" ], "proteinEffect": { "hgvs": "NP_001121897.1:p.Lys155Ter", "hgvsWellDefined": "NP_001121897.1:p.Lys155_Gln549delinsTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011778" }, { "@id": "http://reg.genome.network/allele/PA2826823435", "coordinates": [ { "allele": "T", "end": 640, "referenceAllele": "A", "start": 639 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293190.1:c.424A>T" ], "proteinEffect": { "hgvs": "NP_001280119.1:p.Lys142Ter", "hgvsWellDefined": "NP_001280119.1:p.Lys142_Gln536delinsTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024498" }, { "@id": "http://reg.genome.network/allele/PA2826825076", "coordinates": [ { "allele": "T", "end": 477, "referenceAllele": "A", "start": 476 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293191.1:c.412A>T" ], "proteinEffect": { "hgvs": "NP_001280120.1:p.Lys138Ter", "hgvsWellDefined": "NP_001280120.1:p.Lys138_Gln532delinsTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024499" }, { "@id": "http://reg.genome.network/allele/PA2826826412", "coordinates": [ { "allele": "T", "end": 573, "referenceAllele": "A", "start": 572 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293192.1:c.103A>T" ], "proteinEffect": { "hgvs": "NP_001280121.1:p.Lys35Ter", "hgvsWellDefined": "NP_001280121.1:p.Lys35_Gln429delinsTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024500" }, { "@id": "http://reg.genome.network/allele/PA2826828013", "coordinates": [ { "allele": "T", "end": 594, "referenceAllele": "A", "start": 593 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293195.1:c.379A>T" ], "proteinEffect": { "hgvs": "NP_001280124.1:p.Lys127Ter", "hgvsWellDefined": "NP_001280124.1:p.Lys127_Gln521delinsTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024502" }, { "@id": "http://reg.genome.network/allele/PA916018688", "coordinates": [ { "allele": "T", "end": 462, "referenceAllele": "A", "start": 461 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293196.1:c.103A>T" ], "proteinEffect": { "hgvs": "NP_001280125.1:p.Lys35Ter", "hgvsWellDefined": "NP_001280125.1:p.Lys35_Gln429delinsTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024503" }, { "@id": "http://reg.genome.network/allele/PA2829725894", "coordinates": [ { "allele": "T", "end": 670, "referenceAllele": "A", "start": 669 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_012222.2:c.454A>T" ], "proteinEffect": { "hgvs": "NP_036354.1:p.Lys152Ter", "hgvsWellDefined": "NP_036354.1:p.Lys152_Gln546delinsTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032407" }, { "coordinates": [ { "allele": "T", "end": 742, "referenceAllele": "A", "start": 741 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541497.1:c.439A>T" ], "proteinEffect": { "hgvs": "XP_011539799.1:p.Lys147Ter", "hgvsWellDefined": "XP_011539799.1:p.Lys147_Gln541delinsTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108434" }, { "coordinates": [ { "allele": "T", "end": 514, "referenceAllele": "A", "start": 513 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541498.1:c.421A>T" ], "proteinEffect": { "hgvs": "XP_011539800.1:p.Lys141Ter", "hgvsWellDefined": "XP_011539800.1:p.Lys141_Gln535delinsTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108435" }, { "coordinates": [ { "allele": "T", "end": 500, "referenceAllele": "A", "start": 499 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541499.1:c.421A>T" ], "proteinEffect": { "hgvs": "XP_011539801.1:p.Lys141Ter", "hgvsWellDefined": "XP_011539801.1:p.Lys141_Gln535delinsTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108436" }, { "coordinates": [ { "allele": "T", "end": 677, "referenceAllele": "A", "start": 676 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541500.1:c.421A>T" ], "proteinEffect": { "hgvs": "XP_011539802.1:p.Lys141Ter", "hgvsWellDefined": "XP_011539802.1:p.Lys141_Gln535delinsTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108437" }, { "coordinates": [ { "allele": "T", "end": 625, "referenceAllele": "A", "start": 624 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541501.1:c.421A>T" ], "proteinEffect": { "hgvs": "XP_011539803.1:p.Lys141Ter", "hgvsWellDefined": "XP_011539803.1:p.Lys141_Gln535delinsTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108438" }, { "coordinates": [ { "allele": "T", "end": 658, "referenceAllele": "A", "start": 657 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541502.1:c.421A>T" ], "proteinEffect": { "hgvs": "XP_011539804.1:p.Lys141Ter", "hgvsWellDefined": "XP_011539804.1:p.Lys141_Gln535delinsTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108439" }, { "coordinates": [ { "allele": "T", "end": 509, "endIntronDirection": "-", "endIntronOffset": 124, "referenceAllele": "A", "start": 509, "startIntronDirection": "-", "startIntronOffset": 125 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541503.1:c.463-125A>T" ], "proteinEffect": { "hgvs": "XP_011539805.1:n.463-125A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS108440" }, { "coordinates": [ { "allele": "T", "end": 534, "referenceAllele": "A", "start": 533 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541504.1:c.412A>T" ], "proteinEffect": { "hgvs": "XP_011539806.1:p.Lys138Ter", "hgvsWellDefined": "XP_011539806.1:p.Lys138_Gln532delinsTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108441" }, { "coordinates": [ { "allele": "T", "end": 210, "endIntronDirection": "-", "endIntronOffset": 124, "referenceAllele": "A", "start": 210, "startIntronDirection": "-", "startIntronOffset": 125 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541505.1:c.43-125A>T" ], "proteinEffect": { "hgvs": "XP_011539807.1:n.43-125A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS108442" }, { "coordinates": [ { "allele": "T", "end": 208, "endIntronDirection": "-", "endIntronOffset": 124, "referenceAllele": "A", "start": 208, "startIntronDirection": "-", "startIntronOffset": 125 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541506.1:c.43-125A>T" ], "proteinEffect": { "hgvs": "XP_011539808.1:n.43-125A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS108443" }, { "coordinates": [ { "allele": "T", "end": 40, "endIntronDirection": "-", "endIntronOffset": 124, "referenceAllele": "A", "start": 40, "startIntronDirection": "-", "startIntronOffset": 125 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541507.1:c.34-125A>T" ], "proteinEffect": { "hgvs": "XP_011539809.1:n.34-125A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS108444" }, { "coordinates": [ { "allele": "T", "end": 32, "referenceAllele": "A", "start": 31 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541508.1:c.7A>T" ], "proteinEffect": { "hgvs": "XP_011539810.1:p.Lys3Ter", "hgvsWellDefined": "XP_011539810.1:p.Lys3_Gln397delinsTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108445" }, { "coordinates": [ { "allele": "T", "end": 510, "referenceAllele": "A", "start": 509 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_946658.1:n.510A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS140241" }, { "@id": "http://reg.genome.network/allele/PA2827556364", "coordinates": [ { "allele": "T", "end": 563, "referenceAllele": "A", "start": 562 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350650.1:c.34A>T" ], "proteinEffect": { "hgvs": "NP_001337579.1:p.Lys12Ter", "hgvsWellDefined": "NP_001337579.1:p.Lys12_Gln406delinsTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519533" }, { "@id": "http://reg.genome.network/allele/PA2827557623", "coordinates": [ { "allele": "T", "end": 499, "referenceAllele": "A", "start": 498 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350651.1:c.34A>T" ], "proteinEffect": { "hgvs": "NP_001337580.1:p.Lys12Ter", "hgvsWellDefined": "NP_001337580.1:p.Lys12_Gln406delinsTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519534" }, { "coordinates": [ { "allele": "T", "end": 637, "referenceAllele": "A", "start": 636 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146882.1:n.637A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530438" }, { "coordinates": [ { "allele": "T", "end": 451, "referenceAllele": "A", "start": 450 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146883.1:n.451A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530439" }, { "coordinates": [ { "allele": "T", "end": 737, "referenceAllele": "A", "start": 736 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541497.3:c.439A>T" ], "proteinEffect": { "hgvs": "XP_011539799.1:p.Lys147Ter", "hgvsWellDefined": "XP_011539799.1:p.Lys147_Gln541delinsTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554460" }, { "coordinates": [ { "allele": "T", "end": 715, "referenceAllele": "A", "start": 714 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541500.3:c.421A>T" ], "proteinEffect": { "hgvs": "XP_011539802.1:p.Lys141Ter", "hgvsWellDefined": "XP_011539802.1:p.Lys141_Gln535delinsTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554461" }, { "coordinates": [ { "allele": "T", "end": 609, "referenceAllele": "A", "start": 608 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541501.2:c.421A>T" ], "proteinEffect": { "hgvs": "XP_011539803.1:p.Lys141Ter", "hgvsWellDefined": "XP_011539803.1:p.Lys141_Gln535delinsTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554462" }, { "coordinates": [ { "allele": "T", "end": 514, "referenceAllele": "A", "start": 513 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541502.2:c.421A>T" ], "proteinEffect": { "hgvs": "XP_011539804.1:p.Lys141Ter", "hgvsWellDefined": "XP_011539804.1:p.Lys141_Gln535delinsTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554463" }, { "coordinates": [ { "allele": "T", "end": 523, "endIntronDirection": "-", "endIntronOffset": 124, "referenceAllele": "A", "start": 523, "startIntronDirection": "-", "startIntronOffset": 125 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541503.2:c.463-125A>T" ], "proteinEffect": { "hgvs": "XP_011539805.1:n.463-125A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS554464" }, { "coordinates": [ { "allele": "T", "end": 563, "referenceAllele": "A", "start": 562 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541504.2:c.412A>T" ], "proteinEffect": { "hgvs": "XP_011539806.1:p.Lys138Ter", "hgvsWellDefined": "XP_011539806.1:p.Lys138_Gln532delinsTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554465" }, { "coordinates": [ { "allele": "T", "end": 224, "endIntronDirection": "-", "endIntronOffset": 124, "referenceAllele": "A", "start": 224, "startIntronDirection": "-", "startIntronOffset": 125 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541505.2:c.43-125A>T" ], "proteinEffect": { "hgvs": "XP_011539807.1:n.43-125A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS554466" }, { "coordinates": [ { "allele": "T", "end": 266, "endIntronDirection": "-", "endIntronOffset": 124, "referenceAllele": "A", "start": 266, "startIntronDirection": "-", "startIntronOffset": 125 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541506.2:c.43-125A>T" ], "proteinEffect": { "hgvs": "XP_011539808.1:n.43-125A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS554467" }, { "coordinates": [ { "allele": "T", "end": 513, "referenceAllele": "A", "start": 512 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001331.1:c.421A>T" ], "proteinEffect": { "hgvs": "XP_016856820.1:p.Lys141Ter", "hgvsWellDefined": "XP_016856820.1:p.Lys141_Gln535delinsTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557533" }, { "coordinates": [ { "allele": "T", "end": 515, "referenceAllele": "A", "start": 514 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001332.1:c.421A>T" ], "proteinEffect": { "hgvs": "XP_016856821.1:p.Lys141Ter", "hgvsWellDefined": "XP_016856821.1:p.Lys141_Gln535delinsTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557534" }, { "coordinates": [ { "allele": "T", "end": 568, "referenceAllele": "A", "start": 567 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001333.1:c.421A>T" ], "proteinEffect": { "hgvs": "XP_016856822.1:p.Lys141Ter", "hgvsWellDefined": "XP_016856822.1:p.Lys141_Gln535delinsTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557535" }, { "coordinates": [ { "allele": "T", "end": 461, "referenceAllele": "A", "start": 460 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001334.1:c.382A>T" ], "proteinEffect": { "hgvs": "XP_016856823.1:p.Lys128Ter", "hgvsWellDefined": "XP_016856823.1:p.Lys128_Gln522delinsTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557536" }, { "coordinates": [ { "allele": "T", "end": 407, "referenceAllele": "A", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001335.1:c.103A>T" ], "proteinEffect": { "hgvs": "XP_016856824.1:p.Lys35Ter", "hgvsWellDefined": "XP_016856824.1:p.Lys35_Gln429delinsTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557537" }, { "coordinates": [ { "allele": "T", "end": 491, "referenceAllele": "A", "start": 490 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001336.1:c.34A>T" ], "proteinEffect": { "hgvs": "XP_016856825.1:p.Lys12Ter", "hgvsWellDefined": "XP_016856825.1:p.Lys12_Gln406delinsTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557538" }, { "coordinates": [ { "allele": "T", "end": 431, "referenceAllele": "A", "start": 430 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001337.1:c.34A>T" ], "proteinEffect": { "hgvs": "XP_016856826.1:p.Lys12Ter", "hgvsWellDefined": "XP_016856826.1:p.Lys12_Gln406delinsTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557539" }, { "coordinates": [ { "allele": "T", "end": 456, "referenceAllele": "A", "start": 455 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447244.1:c.34A>T" ], "proteinEffect": { "hgvs": "XP_024303012.1:p.Lys12Ter", "hgvsWellDefined": "XP_024303012.1:p.Lys12_Gln406delinsTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580832" }, { "coordinates": [ { "allele": "T", "end": 401, "referenceAllele": "A", "start": 400 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447245.1:c.34A>T" ], "proteinEffect": { "hgvs": "XP_024303013.1:p.Lys12Ter", "hgvsWellDefined": "XP_024303013.1:p.Lys12_Gln406delinsTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580833" }, { "coordinates": [ { "allele": "T", "end": 413, "endIntronDirection": "-", "endIntronOffset": 124, "referenceAllele": "A", "start": 413, "startIntronDirection": "-", "startIntronOffset": 125 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447248.1:c.34-125A>T" ], "proteinEffect": { "hgvs": "XP_024303016.1:n.34-125A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS580836" }, { "coordinates": [ { "allele": "T", "end": 724, "referenceAllele": "A", "start": 723 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447249.1:c.-138A>T" ], "proteinEffect": { "hgvs": "XP_024303017.1:n.-138A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS580837" }, { "coordinates": [ { "allele": "T", "end": 725, "referenceAllele": "A", "start": 724 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447250.1:c.-138A>T" ], "proteinEffect": { "hgvs": "XP_024303018.1:n.-138A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS580838" }, { "coordinates": [ { "allele": "T", "end": 276, "referenceAllele": "A", "start": 275 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447251.1:c.-221A>T" ], "proteinEffect": { "hgvs": "XP_024303019.1:n.-221A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS580839" }, { "coordinates": [ { "allele": "T", "end": 424, "referenceAllele": "A", "start": 423 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_001737190.1:n.424A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS587991" }, { "coordinates": [ { "allele": "T", "end": 277, "endIntronDirection": "-", "endIntronOffset": 124, "referenceAllele": "A", "start": 277, "startIntronDirection": "-", "startIntronOffset": 125 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_001737192.1:n.278-125A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS587992" }, { "coordinates": [ { "allele": "T", "end": 457, "endIntronDirection": "-", "endIntronOffset": 124, "referenceAllele": "A", "start": 457, "startIntronDirection": "-", "startIntronOffset": 125 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_002956643.1:n.458-125A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS602781" }, { "coordinates": [ { "allele": "T", "end": 868, "referenceAllele": "A", "start": 867 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_002956644.1:n.868A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS602782" }, { "coordinates": [ { "allele": "T", "end": 524, "referenceAllele": "A", "start": 523 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_946658.2:n.524A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS614413" }, { "@id": "http://reg.genome.network/allele/PA2825426164", "coordinates": [ { "allele": "T", "end": 607, "referenceAllele": "A", "start": 606 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048171.2:c.379A>T" ], "proteinEffect": { "hgvs": "NP_001041636.2:p.Lys127Ter", "hgvsWellDefined": "NP_001041636.2:p.Lys127_Gln521delinsTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676107" }, { "@id": "http://reg.genome.network/allele/PA645509936", "coordinates": [ { "allele": "T", "end": 649, "referenceAllele": "A", "start": 648 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001128425.2:c.463A>T" ], "proteinEffect": { "hgvs": "NP_001121897.1:p.Lys155Ter", "hgvsWellDefined": "NP_001121897.1:p.Lys155_Gln549delinsTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676985", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000710952.2:c.463A>T" }, "RefSeq": { "hgvs": "NM_001128425.2:c.463A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000518552.2:p.Lys155Ter" }, "RefSeq": { "hgvs": "NP_001121897.1:p.Lys155Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825427774", "coordinates": [ { "allele": "T", "end": 533, "referenceAllele": "A", "start": 532 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048172.2:c.382A>T" ], "proteinEffect": { "hgvs": "NP_001041637.1:p.Lys128Ter", "hgvsWellDefined": "NP_001041637.1:p.Lys128_Gln522delinsTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711730" }, { "@id": "http://reg.genome.network/allele/PA2825429389", "coordinates": [ { "allele": "T", "end": 530, "referenceAllele": "A", "start": 529 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048173.2:c.379A>T" ], "proteinEffect": { "hgvs": "NP_001041638.1:p.Lys127Ter", "hgvsWellDefined": "NP_001041638.1:p.Lys127_Gln521delinsTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711731" }, { "@id": "http://reg.genome.network/allele/PA2825430997", "coordinates": [ { "allele": "T", "end": 457, "referenceAllele": "A", "start": 456 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048174.2:c.379A>T" ], "proteinEffect": { "hgvs": "NP_001041639.1:p.Lys127Ter", "hgvsWellDefined": "NP_001041639.1:p.Lys127_Gln521delinsTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711732", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000456914.7:c.379A>T" }, "RefSeq": { "hgvs": "NM_001048174.2:c.379A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000407590.2:p.Lys127Ter" }, "RefSeq": { "hgvs": "NP_001041639.1:p.Lys127Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826823435", "coordinates": [ { "allele": "T", "end": 610, "referenceAllele": "A", "start": 609 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293190.2:c.424A>T" ], "proteinEffect": { "hgvs": "NP_001280119.1:p.Lys142Ter", "hgvsWellDefined": "NP_001280119.1:p.Lys142_Gln536delinsTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716759" }, { "@id": "http://reg.genome.network/allele/PA2826825076", "coordinates": [ { "allele": "T", "end": 490, "referenceAllele": "A", "start": 489 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293191.2:c.412A>T" ], "proteinEffect": { "hgvs": "NP_001280120.1:p.Lys138Ter", "hgvsWellDefined": "NP_001280120.1:p.Lys138_Gln532delinsTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716760" }, { "@id": "http://reg.genome.network/allele/PA2826826412", "coordinates": [ { "allele": "T", "end": 543, "referenceAllele": "A", "start": 542 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293192.2:c.103A>T" ], "proteinEffect": { "hgvs": "NP_001280121.1:p.Lys35Ter", "hgvsWellDefined": "NP_001280121.1:p.Lys35_Gln429delinsTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716761" }, { "@id": "http://reg.genome.network/allele/PA2826828013", "coordinates": [ { "allele": "T", "end": 607, "referenceAllele": "A", "start": 606 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293195.2:c.379A>T" ], "proteinEffect": { "hgvs": "NP_001280124.1:p.Lys127Ter", "hgvsWellDefined": "NP_001280124.1:p.Lys127_Gln521delinsTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716762" }, { "@id": "http://reg.genome.network/allele/PA916018688", "coordinates": [ { "allele": "T", "end": 466, "referenceAllele": "A", "start": 465 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293196.2:c.103A>T" ], "proteinEffect": { "hgvs": "NP_001280125.1:p.Lys35Ter", "hgvsWellDefined": "NP_001280125.1:p.Lys35_Gln429delinsTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716763" }, { "@id": "http://reg.genome.network/allele/PA2827556364", "coordinates": [ { "allele": "T", "end": 533, "referenceAllele": "A", "start": 532 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350650.2:c.34A>T" ], "proteinEffect": { "hgvs": "NP_001337579.1:p.Lys12Ter", "hgvsWellDefined": "NP_001337579.1:p.Lys12_Gln406delinsTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS719606" }, { "@id": "http://reg.genome.network/allele/PA2827557623", "coordinates": [ { "allele": "T", "end": 469, "referenceAllele": "A", "start": 468 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350651.2:c.34A>T" ], "proteinEffect": { "hgvs": "NP_001337580.1:p.Lys12Ter", "hgvsWellDefined": "NP_001337580.1:p.Lys12_Gln406delinsTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS719607" }, { "@id": "http://reg.genome.network/allele/PA2829725894", "coordinates": [ { "allele": "T", "end": 640, "referenceAllele": "A", "start": 639 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_012222.3:c.454A>T" ], "proteinEffect": { "hgvs": "NP_036354.1:p.Lys152Ter", "hgvsWellDefined": "NP_036354.1:p.Lys152_Gln546delinsTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727852" }, { "coordinates": [ { "allele": "T", "end": 607, "referenceAllele": "A", "start": 606 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146882.2:n.607A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731326" }, { "coordinates": [ { "allele": "T", "end": 456, "referenceAllele": "A", "start": 455 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146883.2:n.456A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731327" } ], "type": "nucleotide" }