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"NP_001041636.1:p.Gln300_Gln535delinsGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009856" }, { "@id": "http://reg.genome.network/allele/PA2825428283", "coordinates": [ { "allele": "T", "end": 1005, "referenceAllele": "C", "start": 1004 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048172.1:c.859C>T" ], "proteinEffect": { "hgvs": "NP_001041637.1:p.Gln287Ter", "hgvsWellDefined": "NP_001041637.1:p.Gln287_Gln522delinsGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009857" }, { "@id": "http://reg.genome.network/allele/PA2825429895", "coordinates": [ { "allele": "T", "end": 1002, "referenceAllele": "C", "start": 1001 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048173.1:c.856C>T" ], "proteinEffect": { "hgvs": "NP_001041638.1:p.Gln286Ter", "hgvsWellDefined": "NP_001041638.1:p.Gln286_Gln521delinsGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009858" }, { "@id": "http://reg.genome.network/allele/PA2825431506", "coordinates": [ { "allele": "T", "end": 921, "referenceAllele": "C", "start": 920 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048174.1:c.856C>T" ], "proteinEffect": { "hgvs": "NP_001041639.1:p.Gln286Ter", "hgvsWellDefined": "NP_001041639.1:p.Gln286_Gln521delinsGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009859" }, { "@id": "http://reg.genome.network/allele/PA163809", "coordinates": [ { "allele": "T", "end": 1156, "referenceAllele": "C", "start": 1155 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001128425.1:c.940C>T", "LRG_220t1:c.940C>T" ], "proteinEffect": { "hgvs": "NP_001121897.1:p.Gln314Ter", "hgvsWellDefined": "NP_001121897.1:p.Gln314_Gln549delinsGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011778" }, { "@id": "http://reg.genome.network/allele/PA2826823943", "coordinates": [ { "allele": "T", "end": 1117, "referenceAllele": "C", "start": 1116 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293190.1:c.901C>T" ], "proteinEffect": { "hgvs": "NP_001280119.1:p.Gln301Ter", "hgvsWellDefined": "NP_001280119.1:p.Gln301_Gln536delinsGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024498" }, { "@id": "http://reg.genome.network/allele/PA2826825584", "coordinates": [ { "allele": "T", "end": 954, "referenceAllele": "C", "start": 953 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293191.1:c.889C>T" ], "proteinEffect": { "hgvs": "NP_001280120.1:p.Gln297Ter", "hgvsWellDefined": "NP_001280120.1:p.Gln297_Gln532delinsGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024499" }, { "@id": "http://reg.genome.network/allele/PA2826826914", "coordinates": [ { "allele": "T", "end": 1050, "referenceAllele": "C", "start": 1049 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293192.1:c.580C>T" ], "proteinEffect": { "hgvs": "NP_001280121.1:p.Gln194Ter", "hgvsWellDefined": "NP_001280121.1:p.Gln194_Gln429delinsGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024500" }, { "@id": "http://reg.genome.network/allele/PA2826828518", "coordinates": [ { "allele": "T", "end": 1071, "referenceAllele": "C", "start": 1070 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293195.1:c.856C>T" ], "proteinEffect": { "hgvs": "NP_001280124.1:p.Gln286Ter", "hgvsWellDefined": "NP_001280124.1:p.Gln286_Gln521delinsGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024502" }, { "@id": "http://reg.genome.network/allele/PA2826829694", "coordinates": [ { "allele": "T", "end": 939, "referenceAllele": "C", "start": 938 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293196.1:c.580C>T" ], "proteinEffect": { "hgvs": "NP_001280125.1:p.Gln194Ter", "hgvsWellDefined": "NP_001280125.1:p.Gln194_Gln429delinsGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024503" }, { "@id": "http://reg.genome.network/allele/PA2829726394", "coordinates": [ { "allele": "T", "end": 1147, "referenceAllele": "C", "start": 1146 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_012222.2:c.931C>T" ], "proteinEffect": { "hgvs": "NP_036354.1:p.Gln311Ter", "hgvsWellDefined": "NP_036354.1:p.Gln311_Gln546delinsGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032407" }, { "coordinates": [ { "allele": "T", "end": 1219, "referenceAllele": "C", "start": 1218 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541497.1:c.916C>T" ], "proteinEffect": { "hgvs": "XP_011539799.1:p.Gln306Ter", "hgvsWellDefined": "XP_011539799.1:p.Gln306_Gln541delinsGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108434" }, { "coordinates": [ { "allele": "T", "end": 991, "referenceAllele": "C", "start": 990 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541498.1:c.898C>T" ], "proteinEffect": { "hgvs": "XP_011539800.1:p.Gln300Ter", "hgvsWellDefined": "XP_011539800.1:p.Gln300_Gln535delinsGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108435" }, { "coordinates": [ { "allele": "T", "end": 977, "referenceAllele": "C", "start": 976 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541499.1:c.898C>T" ], "proteinEffect": { "hgvs": "XP_011539801.1:p.Gln300Ter", "hgvsWellDefined": "XP_011539801.1:p.Gln300_Gln535delinsGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108436" }, { "coordinates": [ { "allele": "T", "end": 1154, "referenceAllele": "C", "start": 1153 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541500.1:c.898C>T" ], "proteinEffect": { "hgvs": "XP_011539802.1:p.Gln300Ter", "hgvsWellDefined": "XP_011539802.1:p.Gln300_Gln535delinsGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108437" }, { "coordinates": [ { "allele": "T", "end": 1102, "referenceAllele": "C", "start": 1101 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541501.1:c.898C>T" ], "proteinEffect": { "hgvs": "XP_011539803.1:p.Gln300Ter", "hgvsWellDefined": "XP_011539803.1:p.Gln300_Gln535delinsGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108438" }, { "coordinates": [ { "allele": "T", "end": 1135, "referenceAllele": "C", "start": 1134 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541502.1:c.898C>T" ], "proteinEffect": { "hgvs": "XP_011539804.1:p.Gln300Ter", "hgvsWellDefined": "XP_011539804.1:p.Gln300_Gln535delinsGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108439" }, { "coordinates": [ { "allele": "T", "end": 945, "referenceAllele": "C", "start": 944 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541503.1:c.898C>T" ], "proteinEffect": { "hgvs": "XP_011539805.1:p.Gln300Ter", "hgvsWellDefined": "XP_011539805.1:p.Gln300_Gln535delinsGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108440" }, { "coordinates": [ { "allele": "T", "end": 1011, "referenceAllele": "C", "start": 1010 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541504.1:c.889C>T" ], "proteinEffect": { "hgvs": "XP_011539806.1:p.Gln297Ter", "hgvsWellDefined": "XP_011539806.1:p.Gln297_Gln532delinsGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108441" }, { "coordinates": [ { "allele": "T", "end": 646, "referenceAllele": "C", "start": 645 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541505.1:c.478C>T" ], "proteinEffect": { "hgvs": "XP_011539807.1:p.Gln160Ter", "hgvsWellDefined": "XP_011539807.1:p.Gln160_Gln395delinsGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108442" }, { "coordinates": [ { "allele": "T", "end": 644, "referenceAllele": "C", "start": 643 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541506.1:c.478C>T" ], "proteinEffect": { "hgvs": "XP_011539808.1:p.Gln160Ter", "hgvsWellDefined": "XP_011539808.1:p.Gln160_Gln395delinsGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108443" }, { "coordinates": [ { "allele": "T", "end": 476, "referenceAllele": "C", "start": 475 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541507.1:c.469C>T" ], "proteinEffect": { "hgvs": "XP_011539809.1:p.Gln157Ter", "hgvsWellDefined": "XP_011539809.1:p.Gln157_Gln392delinsGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108444" }, { "coordinates": [ { "allele": "T", "end": 509, "referenceAllele": "C", "start": 508 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541508.1:c.484C>T" ], "proteinEffect": { "hgvs": "XP_011539810.1:p.Gln162Ter", "hgvsWellDefined": "XP_011539810.1:p.Gln162_Gln397delinsGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108445" }, { "coordinates": [ { "allele": "T", "end": 987, "referenceAllele": "C", "start": 986 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_946658.1:n.987C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS140241" }, { "@id": "http://reg.genome.network/allele/PA2827556867", "coordinates": [ { "allele": "T", "end": 1040, "referenceAllele": "C", "start": 1039 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350650.1:c.511C>T" ], "proteinEffect": { "hgvs": "NP_001337579.1:p.Gln171Ter", "hgvsWellDefined": "NP_001337579.1:p.Gln171_Gln406delinsGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519533" }, { "@id": "http://reg.genome.network/allele/PA2827558080", "coordinates": [ { "allele": "T", "end": 976, "referenceAllele": "C", "start": 975 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350651.1:c.511C>T" ], "proteinEffect": { "hgvs": "NP_001337580.1:p.Gln171Ter", "hgvsWellDefined": "NP_001337580.1:p.Gln171_Gln406delinsGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519534" }, { "coordinates": [ { "allele": "T", "end": 1114, "referenceAllele": "C", "start": 1113 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146882.1:n.1114C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530438" }, { "coordinates": [ { "allele": "T", "end": 928, "referenceAllele": "C", "start": 927 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146883.1:n.928C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530439" }, { "coordinates": [ { "allele": "T", "end": 1214, "referenceAllele": "C", "start": 1213 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541497.3:c.916C>T" ], "proteinEffect": { "hgvs": "XP_011539799.1:p.Gln306Ter", "hgvsWellDefined": "XP_011539799.1:p.Gln306_Gln541delinsGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554460" }, { "coordinates": [ { "allele": "T", "end": 1192, "referenceAllele": "C", "start": 1191 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541500.3:c.898C>T" ], "proteinEffect": { "hgvs": "XP_011539802.1:p.Gln300Ter", "hgvsWellDefined": "XP_011539802.1:p.Gln300_Gln535delinsGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554461" }, { "coordinates": [ { "allele": "T", "end": 1086, "referenceAllele": "C", "start": 1085 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541501.2:c.898C>T" ], "proteinEffect": { "hgvs": "XP_011539803.1:p.Gln300Ter", "hgvsWellDefined": "XP_011539803.1:p.Gln300_Gln535delinsGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554462" }, { "coordinates": [ { "allele": "T", "end": 991, "referenceAllele": "C", "start": 990 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541502.2:c.898C>T" ], "proteinEffect": { "hgvs": "XP_011539804.1:p.Gln300Ter", "hgvsWellDefined": "XP_011539804.1:p.Gln300_Gln535delinsGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554463" }, { "coordinates": [ { "allele": "T", "end": 959, "referenceAllele": "C", "start": 958 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541503.2:c.898C>T" ], "proteinEffect": { "hgvs": "XP_011539805.1:p.Gln300Ter", "hgvsWellDefined": "XP_011539805.1:p.Gln300_Gln535delinsGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554464" }, { "coordinates": [ { "allele": "T", "end": 1040, "referenceAllele": "C", "start": 1039 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541504.2:c.889C>T" ], "proteinEffect": { "hgvs": "XP_011539806.1:p.Gln297Ter", "hgvsWellDefined": "XP_011539806.1:p.Gln297_Gln532delinsGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554465" }, { "coordinates": [ { "allele": "T", "end": 660, "referenceAllele": "C", "start": 659 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541505.2:c.478C>T" ], "proteinEffect": { "hgvs": "XP_011539807.1:p.Gln160Ter", "hgvsWellDefined": "XP_011539807.1:p.Gln160_Gln395delinsGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554466" }, { "coordinates": [ { "allele": "T", "end": 702, "referenceAllele": "C", "start": 701 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541506.2:c.478C>T" ], "proteinEffect": { "hgvs": "XP_011539808.1:p.Gln160Ter", "hgvsWellDefined": "XP_011539808.1:p.Gln160_Gln395delinsGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554467" }, { "coordinates": [ { "allele": "T", "end": 990, "referenceAllele": "C", "start": 989 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001331.1:c.898C>T" ], "proteinEffect": { "hgvs": "XP_016856820.1:p.Gln300Ter", "hgvsWellDefined": "XP_016856820.1:p.Gln300_Gln535delinsGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557533" }, { "coordinates": [ { "allele": "T", "end": 992, "referenceAllele": "C", "start": 991 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001332.1:c.898C>T" ], "proteinEffect": { "hgvs": "XP_016856821.1:p.Gln300Ter", "hgvsWellDefined": "XP_016856821.1:p.Gln300_Gln535delinsGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557534" }, { "coordinates": [ { "allele": "T", "end": 1045, "referenceAllele": "C", "start": 1044 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001333.1:c.898C>T" ], "proteinEffect": { "hgvs": "XP_016856822.1:p.Gln300Ter", "hgvsWellDefined": "XP_016856822.1:p.Gln300_Gln535delinsGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557535" }, { "coordinates": [ { "allele": "T", "end": 938, "referenceAllele": "C", "start": 937 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001334.1:c.859C>T" ], "proteinEffect": { "hgvs": "XP_016856823.1:p.Gln287Ter", "hgvsWellDefined": "XP_016856823.1:p.Gln287_Gln522delinsGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557536" }, { "coordinates": [ { "allele": "T", "end": 884, "referenceAllele": "C", "start": 883 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001335.1:c.580C>T" ], "proteinEffect": { "hgvs": "XP_016856824.1:p.Gln194Ter", "hgvsWellDefined": "XP_016856824.1:p.Gln194_Gln429delinsGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557537" }, { "coordinates": [ { "allele": "T", "end": 968, "referenceAllele": "C", "start": 967 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001336.1:c.511C>T" ], "proteinEffect": { "hgvs": "XP_016856825.1:p.Gln171Ter", "hgvsWellDefined": "XP_016856825.1:p.Gln171_Gln406delinsGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557538" }, { "coordinates": [ { "allele": "T", "end": 908, "referenceAllele": "C", "start": 907 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001337.1:c.511C>T" ], "proteinEffect": { "hgvs": "XP_016856826.1:p.Gln171Ter", "hgvsWellDefined": "XP_016856826.1:p.Gln171_Gln406delinsGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557539" }, { "coordinates": [ { "allele": "T", "end": 933, "referenceAllele": "C", "start": 932 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447244.1:c.511C>T" ], "proteinEffect": { "hgvs": "XP_024303012.1:p.Gln171Ter", "hgvsWellDefined": "XP_024303012.1:p.Gln171_Gln406delinsGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580832" }, { "coordinates": [ { "allele": "T", "end": 878, "referenceAllele": "C", "start": 877 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447245.1:c.511C>T" ], "proteinEffect": { "hgvs": "XP_024303013.1:p.Gln171Ter", "hgvsWellDefined": "XP_024303013.1:p.Gln171_Gln406delinsGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580833" }, { "coordinates": [ { "allele": "T", "end": 849, "referenceAllele": "C", "start": 848 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447248.1:c.469C>T" ], "proteinEffect": { "hgvs": "XP_024303016.1:p.Gln157Ter", "hgvsWellDefined": "XP_024303016.1:p.Gln157_Gln392delinsGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580836" }, { "coordinates": [ { "allele": "T", "end": 1201, "referenceAllele": "C", "start": 1200 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447249.1:c.340C>T" ], "proteinEffect": { "hgvs": "XP_024303017.1:p.Gln114Ter", "hgvsWellDefined": "XP_024303017.1:p.Gln114_Gln349delinsGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580837" }, { "coordinates": [ { "allele": "T", "end": 1202, "referenceAllele": "C", "start": 1201 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447250.1:c.340C>T" ], "proteinEffect": { "hgvs": "XP_024303018.1:p.Gln114Ter", "hgvsWellDefined": "XP_024303018.1:p.Gln114_Gln349delinsGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580838" }, { "coordinates": [ { "allele": "T", "end": 836, "referenceAllele": "C", "start": 835 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447251.1:c.340C>T" ], "proteinEffect": { "hgvs": "XP_024303019.1:p.Gln114Ter", "hgvsWellDefined": "XP_024303019.1:p.Gln114_Gln349delinsGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580839" }, { "coordinates": [ { "allele": "T", "end": 901, "referenceAllele": "C", "start": 900 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_001737190.1:n.901C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS587991" }, { "coordinates": [ { "allele": "T", "end": 713, "referenceAllele": "C", "start": 712 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_001737192.1:n.713C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS587992" }, { "coordinates": [ { "allele": "T", "end": 893, "referenceAllele": "C", "start": 892 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_002956643.1:n.893C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS602781" }, { "coordinates": [ { "allele": "T", "end": 1428, "referenceAllele": "C", "start": 1427 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_002956644.1:n.1428C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS602782" }, { "coordinates": [ { "allele": "T", "end": 1001, "referenceAllele": "C", "start": 1000 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_946658.2:n.1001C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS614413" }, { "@id": "http://reg.genome.network/allele/PA2825426673", "coordinates": [ { "allele": "T", "end": 1084, "referenceAllele": "C", "start": 1083 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048171.2:c.856C>T" ], "proteinEffect": { "hgvs": "NP_001041636.2:p.Gln286Ter", "hgvsWellDefined": "NP_001041636.2:p.Gln286_Gln521delinsGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676107" }, { "@id": "http://reg.genome.network/allele/PA163809", "coordinates": [ { "allele": "T", "end": 1126, "referenceAllele": "C", "start": 1125 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001128425.2:c.940C>T" ], "proteinEffect": { "hgvs": "NP_001121897.1:p.Gln314Ter", "hgvsWellDefined": "NP_001121897.1:p.Gln314_Gln549delinsGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676985", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000710952.2:c.940C>T" }, "RefSeq": { "hgvs": "NM_001128425.2:c.940C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000518552.2:p.Gln314Ter" }, "RefSeq": { "hgvs": "NP_001121897.1:p.Gln314Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825428283", "coordinates": [ { "allele": "T", "end": 1010, "referenceAllele": "C", "start": 1009 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048172.2:c.859C>T" ], "proteinEffect": { "hgvs": "NP_001041637.1:p.Gln287Ter", "hgvsWellDefined": "NP_001041637.1:p.Gln287_Gln522delinsGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711730" }, { "@id": "http://reg.genome.network/allele/PA2825429895", "coordinates": [ { "allele": "T", "end": 1007, "referenceAllele": "C", "start": 1006 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048173.2:c.856C>T" ], "proteinEffect": { "hgvs": "NP_001041638.1:p.Gln286Ter", "hgvsWellDefined": "NP_001041638.1:p.Gln286_Gln521delinsGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711731" }, { "@id": "http://reg.genome.network/allele/PA2825431506", "coordinates": [ { "allele": "T", "end": 934, "referenceAllele": "C", "start": 933 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048174.2:c.856C>T" ], "proteinEffect": { "hgvs": "NP_001041639.1:p.Gln286Ter", "hgvsWellDefined": "NP_001041639.1:p.Gln286_Gln521delinsGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711732", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000456914.7:c.856C>T" }, "RefSeq": { "hgvs": "NM_001048174.2:c.856C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000407590.2:p.Gln286Ter" }, "RefSeq": { "hgvs": "NP_001041639.1:p.Gln286Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826823943", "coordinates": [ { "allele": "T", "end": 1087, "referenceAllele": "C", "start": 1086 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293190.2:c.901C>T" ], "proteinEffect": { "hgvs": "NP_001280119.1:p.Gln301Ter", "hgvsWellDefined": "NP_001280119.1:p.Gln301_Gln536delinsGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716759" }, { "@id": "http://reg.genome.network/allele/PA2826825584", "coordinates": [ { "allele": "T", "end": 967, "referenceAllele": "C", "start": 966 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293191.2:c.889C>T" ], "proteinEffect": { "hgvs": "NP_001280120.1:p.Gln297Ter", "hgvsWellDefined": "NP_001280120.1:p.Gln297_Gln532delinsGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716760" }, { "@id": "http://reg.genome.network/allele/PA2826826914", "coordinates": [ { "allele": "T", "end": 1020, "referenceAllele": "C", "start": 1019 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293192.2:c.580C>T" ], "proteinEffect": { "hgvs": "NP_001280121.1:p.Gln194Ter", "hgvsWellDefined": "NP_001280121.1:p.Gln194_Gln429delinsGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716761" }, { "@id": "http://reg.genome.network/allele/PA2826828518", "coordinates": [ { "allele": "T", "end": 1084, "referenceAllele": "C", "start": 1083 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293195.2:c.856C>T" ], "proteinEffect": { "hgvs": "NP_001280124.1:p.Gln286Ter", "hgvsWellDefined": "NP_001280124.1:p.Gln286_Gln521delinsGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716762" }, { "@id": "http://reg.genome.network/allele/PA2826829694", "coordinates": [ { "allele": "T", "end": 943, "referenceAllele": "C", "start": 942 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293196.2:c.580C>T" ], "proteinEffect": { "hgvs": "NP_001280125.1:p.Gln194Ter", "hgvsWellDefined": "NP_001280125.1:p.Gln194_Gln429delinsGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716763" }, { "@id": "http://reg.genome.network/allele/PA2827556867", "coordinates": [ { "allele": "T", "end": 1010, "referenceAllele": "C", "start": 1009 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350650.2:c.511C>T" ], "proteinEffect": { "hgvs": "NP_001337579.1:p.Gln171Ter", "hgvsWellDefined": "NP_001337579.1:p.Gln171_Gln406delinsGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS719606" }, { "@id": "http://reg.genome.network/allele/PA2827558080", "coordinates": [ { "allele": "T", "end": 946, "referenceAllele": "C", "start": 945 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350651.2:c.511C>T" ], "proteinEffect": { "hgvs": "NP_001337580.1:p.Gln171Ter", "hgvsWellDefined": "NP_001337580.1:p.Gln171_Gln406delinsGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS719607" }, { "@id": "http://reg.genome.network/allele/PA2829726394", "coordinates": [ { "allele": "T", "end": 1117, "referenceAllele": "C", "start": 1116 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_012222.3:c.931C>T" ], "proteinEffect": { "hgvs": "NP_036354.1:p.Gln311Ter", "hgvsWellDefined": "NP_036354.1:p.Gln311_Gln546delinsGluGlnLeuLeuAlaSerGlySerLeuSerGlySerProAspValGluGluCysAlaProAsnThrGlyGlnCysHisLeuCysLeuProProSerGluProTrpAspGlnThrLeuGlyValValAsnPheProArgLysAlaSerArgLysProProArgGluGluSerSerAlaThrCysValLeuGluGlnProGlyAlaLeuGlyAlaGlnIleLeuLeuValGlnArgProAsnSerGlyLeuLeuAlaGlyLeuTrpGluPheProSerValThrTrpGluProSerGluGlnLeuGlnArgLysAlaLeuLeuGlnGluLeuGlnArgTrpAlaGlyProLeuProAlaThrHisLeuArgHisLeuGlyGluValValHisThrPheSerHisIleLysLeuThrTyrGlnValTyrGlyLeuAlaLeuGluGlyGlnThrProValThrThrValProProGlyAlaArgTrpLeuThrGlnGluGluPheHisThrAlaAlaValSerThrAlaMetLysLysValPheArgValTyrGlnGlyGlnGlnProGlyThrCysMetGlySerLysArgSerGlnValSerSerProCysSerArgLysLysProArgMetGlyGlnGlnValLeuAspAsnPhePheArgSerHisIleSerThrAspAlaHisSerLeuAsnSerAlaAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727852" }, { "coordinates": [ { "allele": "T", "end": 1084, "referenceAllele": "C", "start": 1083 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146882.2:n.1084C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731326" }, { "coordinates": [ { "allele": "T", "end": 933, "referenceAllele": "C", "start": 932 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146883.2:n.933C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731327" } ], "type": "nucleotide" }