{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA340137829", "communityStandardTitle": [ "NM_025077.4(TOE1):c.-34C>T" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=472481[alleleid]", "alleleId": 472481, "preferredName": "NM_001128425.2(MUTYH):c.36G>A (p.Trp12Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/483936", "RCV": [ "RCV000569145", "RCV001853721" ], "variationId": 483936 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.45805891C>T?assembly=hg19", "id": "chr1:g.45805891C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.45340219C>T?assembly=hg38", "id": "chr1:g.45340219C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/767402084", "rs": 767402084 } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 45340219, "referenceAllele": "C", "start": 45340218 } ], "hgvs": [ "NC_000001.11:g.45340219C>T", "CM000663.2:g.45340219C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 45805891, "referenceAllele": "C", "start": 45805890 } ], "hgvs": [ "NC_000001.10:g.45805891C>T", "CM000663.1:g.45805891C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 45578478, "referenceAllele": "C", "start": 45578477 } ], "hgvs": [ "NC_000001.9:g.45578478C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "A", "end": 5252, "referenceAllele": "G", "start": 5251 } ], "hgvs": [ "NG_008189.1:g.5252G>A", "LRG_220:g.5252G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000931" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 163, "referenceAllele": "G", "start": 162 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000412971.6:c.36G>A" ], "proteinEffect": { "hgvs": "ENSP00000410263.2:p.Trp12Ter", "hgvsWellDefined": "ENSP00000410263.2:p.Trp12_Gln393delinsGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914025" }, { "coordinates": [ { "allele": "A", "end": 197, "referenceAllele": "G", "start": 196 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000529892.6:c.36G>A" ], "proteinEffect": { "hgvs": "ENSP00000432528.2:p.Trp12Ter", "hgvsWellDefined": "ENSP00000432528.2:p.Trp12_Gln472delinsAlaIleMetArgLysProArgAlaAlaValGlySerGlyHisArgLysGlnAlaAlaSerGlnGluGlyArgGlnLysHisAlaLysAsnAsnSerGlnAlaLysProSerAlaCysAspGlyLeuAlaArgGlnProGluGluValValLeuGlnAlaSerValSerSerTyrHisLeuPheArgAspValAlaGluValThrAlaPheArgGlySerLeuLeuSerTrpTyrAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914235" }, { "coordinates": [ { "allele": "A", "end": 222, "referenceAllele": "G", "start": 221 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000710952.2:c.36G>A" ], "proteinEffect": { "hgvs": "ENSP00000518552.2:p.Trp12Ter", "hgvsWellDefined": "ENSP00000518552.2:p.Trp12_Gln549delinsAlaIleMetArgLysProArgAlaAlaValGlySerGlyHisArgLysGlnAlaAlaSerGlnGluGlyArgGlnLysHisAlaLysAsnAsnSerGlnAlaLysProSerAlaCysAspAlaCysAlaGlyMetIleAlaGluCysProGlyAlaProAlaGlyLeuAlaArgGlnProGluGluValValLeuGlnAlaSerValSerSerTyrHisLeuPheArgAspValAlaGluValThrAlaPheArgGlySerLeuLeuSerTrpTyrAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914573", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000710952.2:c.36G>A" }, "RefSeq": { "hgvs": "NM_001128425.2:c.36G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000518552.2:p.Trp12Ter" }, "RefSeq": { "hgvs": "NP_001121897.1:p.Trp12Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 222, "referenceAllele": "G", "start": 221 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672818.3:c.36G>A" ], "proteinEffect": { "hgvs": "ENSP00000500891.1:p.Trp12Ter", "hgvsWellDefined": "ENSP00000500891.1:p.Trp12_Gln546delinsAlaIleMetArgLysProArgAlaAlaValGlySerGlyHisArgLysGlnAlaAlaSerGlnGluGlyArgGlnLysHisAlaLysAsnAsnSerGlnAlaLysProSerAlaCysAspGlyMetIleAlaGluCysProGlyAlaProAlaGlyLeuAlaArgGlnProGluGluValValLeuGlnAlaSerValSerSerTyrHisLeuPheArgAspValAlaGluValThrAlaPheArgGlySerLeuLeuSerTrpTyrAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS826866" }, { "coordinates": [ { "allele": "T", "end": 50, "referenceAllele": "C", "start": 49 } ], "gene": "http://reg.genome.network/gene/GN015954", "geneNCBI_id": 114034, "geneSymbol": "TOE1", "hgvs": [ "ENST00000372090.6:c.-34C>T" ], "proteinEffect": { "hgvs": "ENSP00000361162.5:n.-34C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS750935", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000372090.6:c.-34C>T" }, "RefSeq": { "hgvs": "NM_025077.4:c.-34C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000361162.5:n.-34C>T" }, "RefSeq": { "hgvs": "NP_079353.3:n.-34C>T" } } } }, { "coordinates": [ { "allele": "A", "end": 181, "referenceAllele": "G", "start": 180 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000450313.6:c.36G>A" ], "proteinEffect": { "hgvs": "ENSP00000408176.2:p.Trp12Ter", "hgvsWellDefined": "ENSP00000408176.2:p.Trp12_Cys226delinsAlaIleMetArgLysProArgAlaAlaValGlySerGlyHisArgLysGlnAlaAlaSerGlnGluGlyArgGlnLysHisAlaLysAsnAsnSerGlnAlaLysProSerAlaCysAspAlaCysAlaGlyMetIleAlaGluCysProGlyAlaProAlaGlyLeuAlaArgGlnProGluGluValValLeuGlnAlaSerValSerSerTyrHisLeuPheArgAspValAlaGluValThrAlaPheArgGlySerLeuLeuSerTrpTyrAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaGluValAlaTyrThrAlaGlyProGlyGlnCysPheProGlyGlyGlyGluSerThrLeuGlyTrpProGlyLeuLeuPheSerTrpProAlaAlaAlaGlyGlySerSerGluGlyGlyArgGlyAlaArgGlyProHisAlaThrTyrSerArgAspProAlaAlaAlaProAlaTrpArgGlyAlaLeuHisSerTrpGlyHisCysLeuTyrArgLeuTrpProGlyAsnArgCysGlyGlyTrpGlnArgSerThrGlyAlaValProCysProSerHisTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS756282" }, { "coordinates": [ { "allele": "A", "end": 196, "referenceAllele": "G", "start": 195 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000461495.6:c.36G>A" ], "proteinEffect": { "hgvs": "ENSP00000437166.1:p.Trp12Ter", "hgvsWellDefined": "ENSP00000437166.1:p.Trp12_Thr54delinsAlaIleMetArgLysProArgAlaAlaValGlySerGlyHisArgLysGlnAlaAlaSerGlnGluGlyArgGlnLysHisAlaLysAsnAsnSerGlnAlaLysProSerAlaCysAspGluThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS756715" }, { "coordinates": [ { "allele": "A", "end": 14, "referenceAllele": "G", "start": 13 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000671856.1:n.14G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773188" }, { "coordinates": [ { "allele": "A", "end": 930, "endIntronDirection": "-", "endIntronOffset": 5707, "referenceAllele": "G", "start": 930, "startIntronDirection": "-", "startIntronOffset": 5708 } ], "hgvs": [ "ENST00000671898.1:c.541-5708G>A" ], "proteinEffect": { "hgvs": "ENSP00000499896.1:n.541-5708G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773205" }, { "coordinates": [ { "allele": "A", "end": 675, "referenceAllele": "G", "start": 674 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672011.1:c.36G>A" ], "proteinEffect": { "hgvs": "ENSP00000500418.1:p.Trp12Ter", "hgvsWellDefined": "ENSP00000500418.1:p.Trp12_Cys212delinsAlaIleMetArgLysProArgAlaAlaValGlySerGlyHisArgLysGlnAlaAlaSerGlnGluGlyArgGlnLysHisAlaLysAsnAsnSerGlnAlaLysProSerAlaCysAspGlyLeuAlaArgGlnProGluGluValValLeuGlnAlaSerValSerSerTyrHisLeuPheArgAspValAlaGluValThrAlaPheArgGlySerLeuLeuSerTrpTyrAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaGluValAlaTyrThrAlaGlyProGlyGlnCysPheProGlyGlyGlyGluSerThrLeuGlyTrpProGlyLeuLeuPheSerTrpProAlaAlaAlaGlyGlySerSerGluGlyGlyArgGlyAlaArgGlyProHisAlaThrTyrSerArgAspProAlaAlaAlaProAlaTrpArgGlyAlaLeuHisSerTrpGlyHisCysLeuTyrArgLeuTrpProGlyAsnArgCysGlyGlyTrpGlnArgSerThrGlyAlaValProCysProSerHisTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773239" }, { "coordinates": [ { "allele": "A", "end": 170, "referenceAllele": "G", "start": 169 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672818.2:c.36G>A" ], "proteinEffect": { "hgvs": "ENSP00000500891.1:p.Trp12Ter", "hgvsWellDefined": "ENSP00000500891.1:p.Trp12_Gln546delinsAlaIleMetArgLysProArgAlaAlaValGlySerGlyHisArgLysGlnAlaAlaSerGlnGluGlyArgGlnLysHisAlaLysAsnAsnSerGlnAlaLysProSerAlaCysAspGlyMetIleAlaGluCysProGlyAlaProAlaGlyLeuAlaArgGlnProGluGluValValLeuGlnAlaSerValSerSerTyrHisLeuPheArgAspValAlaGluValThrAlaPheArgGlySerLeuLeuSerTrpTyrAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773501" }, { "coordinates": [ { "allele": "T", "end": 550, "referenceAllele": "C", "start": 549 } ], "gene": "http://reg.genome.network/gene/GN015954", "geneNCBI_id": 114034, "geneSymbol": "TOE1", "hgvs": [ "ENST00000372090.5:c.-34C>T" ], "proteinEffect": { "hgvs": "ENSP00000361162.5:n.-34C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS247154" }, { "coordinates": [ { "allele": "A", "end": 170, "referenceAllele": "G", "start": 169 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372098.7:c.36G>A" ], "proteinEffect": { "hgvs": "ENSP00000361170.3:p.Trp12Ter", "hgvsWellDefined": "ENSP00000361170.3:p.Trp12_Gln546delinsAlaIleMetArgLysProArgAlaAlaValGlySerGlyHisArgLysGlnAlaAlaSerGlnGluGlyArgGlnLysHisAlaLysAsnAsnSerGlnAlaLysProSerAlaCysAspGlyMetIleAlaGluCysProGlyAlaProAlaGlyLeuAlaArgGlnProGluGluValValLeuGlnAlaSerValSerSerTyrHisLeuPheArgAspValAlaGluValThrAlaPheArgGlySerLeuLeuSerTrpTyrAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247324" }, { "coordinates": [ { "allele": "A", "end": 170, "referenceAllele": "G", "start": 169 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372110.7:c.36G>A" ], "proteinEffect": { "hgvs": "ENSP00000361182.3:p.Trp12Ter", "hgvsWellDefined": "ENSP00000361182.3:p.Trp12_Gln536delinsAlaIleMetArgLysProArgAlaAlaValGlySerGlyHisArgLysGlnAlaAlaSerGlnGluGlyArgGlnLysHisAlaLysAsnAsnSerGlnAlaLysProSerAlaCysAspAlaGlyLeuAlaArgGlnProGluGluValValLeuGlnAlaSerValSerSerTyrHisLeuPheArgAspValAlaGluValThrAlaPheArgGlySerLeuLeuSerTrpTyrAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247212" }, { "coordinates": [ { "allele": "A", "end": 252, "referenceAllele": "G", "start": 251 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372115.7:c.36G>A" ], "proteinEffect": { "hgvs": "ENSP00000361187.3:p.Trp12Ter", "hgvsWellDefined": "ENSP00000361187.3:p.Trp12_Gln535delinsAlaIleMetArgLysProArgAlaAlaValGlySerGlyHisArgLysGlnAlaAlaSerGlnGluGlyArgGlnLysHisAlaLysAsnAsnSerGlnAlaLysProSerAlaCysAspGlyLeuAlaArgGlnProGluGluValValLeuGlnAlaSerValSerSerTyrHisLeuPheArgAspValAlaGluValThrAlaPheArgGlySerLeuLeuSerTrpTyrAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247144" }, { "coordinates": [ { "allele": "A", "end": 163, "referenceAllele": "G", "start": 162 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000412971.5:c.36G>A" ], "proteinEffect": { "hgvs": "ENSP00000410263.1:p.Trp12Ter", "hgvsWellDefined": "ENSP00000410263.1:p.Trp12_Ser215del" }, "referenceSequence": "http://reg.genome.network/refseq/RS247381" }, { "coordinates": [ { "allele": "A", "end": 252, "referenceAllele": "G", "start": 251 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000450313.5:c.36G>A" ], "proteinEffect": { "hgvs": "ENSP00000408176.1:p.Trp12Ter", "hgvsWellDefined": "ENSP00000408176.1:p.Trp12_Gln549delinsAlaIleMetArgLysProArgAlaAlaValGlySerGlyHisArgLysGlnAlaAlaSerGlnGluGlyArgGlnLysHisAlaLysAsnAsnSerGlnAlaLysProSerAlaCysAspAlaCysAlaGlyMetIleAlaGluCysProGlyAlaProAlaGlyLeuAlaArgGlnProGluGluValValLeuGlnAlaSerValSerSerTyrHisLeuPheArgAspValAlaGluValThrAlaPheArgGlySerLeuLeuSerTrpTyrAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247417" }, { "coordinates": [ { "allele": "A", "end": 197, "referenceAllele": "G", "start": 196 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000461495.5:c.36G>A" ], "proteinEffect": { "hgvs": "ENSP00000437166.1:p.Trp12Ter", "hgvsWellDefined": "ENSP00000437166.1:p.Trp12_Thr54delinsAlaIleMetArgLysProArgAlaAlaValGlySerGlyHisArgLysGlnAlaAlaSerGlnGluGlyArgGlnLysHisAlaLysAsnAsnSerGlnAlaLysProSerAlaCysAspGluThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS305992" }, { "coordinates": [ { "allele": "A", "end": 214, "referenceAllele": "G", "start": 213 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000462387.5:n.214G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS306656" }, { "coordinates": [ { "allele": "A", "end": 169, "referenceAllele": "G", "start": 168 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000467940.5:c.36G>A" ], "proteinEffect": { "hgvs": "ENSP00000436478.1:p.Trp12Ter", "hgvsWellDefined": "ENSP00000436478.1:p.Trp12_Cys45delinsValArgTrpThrCysGlyHisHisGluGluAlaThrSerSerArgGlyLysTrpSerGlnGluAlaGlySerGlnProGlyArgGluAlaGluAlaCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS310975" }, { "coordinates": [ { "allele": "T", "end": 45, "referenceAllele": "C", "start": 44 } ], "gene": "http://reg.genome.network/gene/GN015954", "geneNCBI_id": 114034, "geneSymbol": "TOE1", "hgvs": [ "ENST00000471337.5:n.45C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS313558" }, { "coordinates": [ { "allele": "A", "end": 214, "referenceAllele": "G", "start": 213 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000476789.5:n.214G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS317757" }, { "coordinates": [ { "allele": "T", "end": 168, "referenceAllele": "C", "start": 167 } ], "gene": "http://reg.genome.network/gene/GN015954", "geneNCBI_id": 114034, "geneSymbol": "TOE1", "hgvs": [ "ENST00000477731.5:n.168C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS318482" }, { "coordinates": [ { "allele": "A", "end": 197, "referenceAllele": "G", "start": 196 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000481139.5:n.197G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS321134" }, { "coordinates": [ { "allele": "A", "end": 170, "referenceAllele": "G", "start": 169 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000481571.5:c.36G>A" ], "proteinEffect": { "hgvs": "ENSP00000436597.1:p.Trp12Ter", "hgvsWellDefined": "ENSP00000436597.1:p.Trp12_Thr54delinsAlaIleMetArgLysProArgAlaAlaValGlySerGlyHisArgLysGlnAlaAlaSerGlnGluGlyArgGlnLysHisAlaLysAsnAsnSerGlnAlaLysProSerAlaCysAspGluThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS321455" }, { "coordinates": [ { "allele": "A", "end": 175, "endIntronDirection": "+", "endIntronOffset": 4, "referenceAllele": "G", "start": 175, "startIntronDirection": "+", "startIntronOffset": 3 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000483642.5:n.175+4G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS323061" }, { "coordinates": [ { "allele": "A", "end": 196, "referenceAllele": "G", "start": 195 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000525160.5:c.36G>A" ], "proteinEffect": { "hgvs": "ENSP00000431568.1:p.Trp12Ter", "hgvsWellDefined": "ENSP00000431568.1:p.Trp12_Arg55delinsAlaIleMetArgLysProArgAlaAlaValGlySerGlyHisArgLysGlnAlaAlaSerGlnGluGlyArgGlnLysHisAlaLysAsnAsnSerGlnAlaLysProSerAlaCysAspGlyArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS351225" }, { "coordinates": [ { "allele": "A", "end": 229, "referenceAllele": "G", "start": 228 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000529984.5:c.-7G>A" ], "proteinEffect": { "hgvs": "ENSP00000437093.1:n.-7G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS247331" }, { "coordinates": [ { "allele": "A", "end": 17, "referenceAllele": "G", "start": 16 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000534453.1:n.17G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS359063" }, { "coordinates": [ { "allele": "A", "end": 252, "referenceAllele": "G", "start": 251 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048171.1:c.36G>A" ], "proteinEffect": { "hgvs": "NP_001041636.1:p.Trp12Ter", "hgvsWellDefined": "NP_001041636.1:p.Trp12_Gln535delinsAlaIleMetArgLysProArgAlaAlaValGlySerGlyHisArgLysGlnAlaAlaSerGlnGluGlyArgGlnLysHisAlaLysAsnAsnSerGlnAlaLysProSerAlaCysAspGlyLeuAlaArgGlnProGluGluValValLeuGlnAlaSerValSerSerTyrHisLeuPheArgAspValAlaGluValThrAlaPheArgGlySerLeuLeuSerTrpTyrAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009856" }, { "@id": "http://reg.genome.network/allele/PA645451720", "coordinates": [ { "allele": "A", "end": 252, "referenceAllele": "G", "start": 251 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001128425.1:c.36G>A", "LRG_220t1:c.36G>A" ], "proteinEffect": { "hgvs": "NP_001121897.1:p.Trp12Ter", "hgvsWellDefined": "NP_001121897.1:p.Trp12_Gln549delinsAlaIleMetArgLysProArgAlaAlaValGlySerGlyHisArgLysGlnAlaAlaSerGlnGluGlyArgGlnLysHisAlaLysAsnAsnSerGlnAlaLysProSerAlaCysAspAlaCysAlaGlyMetIleAlaGluCysProGlyAlaProAlaGlyLeuAlaArgGlnProGluGluValValLeuGlnAlaSerValSerSerTyrHisLeuPheArgAspValAlaGluValThrAlaPheArgGlySerLeuLeuSerTrpTyrAspGlnGluLysArgAspLeuProTrpArgArgArgAlaGluAspGluMetAspLeuAspArgArgAlaTyrAlaValTrpValSerGluValMetLeuGlnGlnThrGlnValAlaThrValIleAsnTyrTyrThrGlyTrpMetGlnLysTrpProThrLeuGlnAspLeuAlaSerAlaSerLeuGluGluValAsnGlnLeuTrpAlaGlyLeuGlyTyrTyrSerArgGlyArgArgLeuGlnGluGlyAlaArgLysValValGluGluLeuGlyGlyHisMetProArgThrAlaGluThrLeuGlnGlnLeuLeuProGlyValGlyArgTyrThrAlaGlyAlaIleAlaSerIleAlaPheGlyGlnAlaThrGlyValValAspGlyAsnValAlaArgValLeuCysArgValArgAlaIleGlyAlaAspProSerSerThrLeuValSerGlnGlnLeuTrpGlyLeuAlaGlnGlnLeuValAspProAlaArgProGlyAspPheAsnGlnAlaAlaMetGluLeuGlyAlaThrValCysThrProGlnArgProLeuCysSerGlnCysProValGluSerLeuCysArgAlaArgGlnArgValGluGlnGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011778" }, { "@id": "http://reg.genome.network/allele/PA2826823090", "coordinates": [ { "allele": "A", "end": 252, "referenceAllele": "G", "start": 251 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293190.1:c.36G>A" ], "proteinEffect": { "hgvs": "NP_001280119.1:p.Trp12Ter", "hgvsWellDefined": 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