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}, "referenceSequence": "http://reg.genome.network/refseq/RS907122" }, { "coordinates": [ { "allele": "T", "end": 853, "referenceAllele": "A", "start": 852 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695618.1:c.*344A>T" ], "proteinEffect": { "hgvs": "ENSP00000512058.1:n.*344A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS907123" }, { "coordinates": [ { "allele": "T", "end": 746, "referenceAllele": "A", "start": 745 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695619.1:c.*440A>T" ], "proteinEffect": { "hgvs": "ENSP00000512059.1:n.*440A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS907124" }, { "coordinates": [ { "allele": "T", "end": 765, "referenceAllele": "A", "start": 764 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695620.1:c.*440A>T" ], "proteinEffect": { "hgvs": "ENSP00000512060.1:n.*440A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS907125" }, { "coordinates": [ { "allele": "T", "end": 747, "referenceAllele": "A", "start": 746 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695621.1:c.595A>T" ], "proteinEffect": { "hgvs": "ENSP00000512061.1:p.Lys199Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS907126" }, { "coordinates": [ { "allele": "T", "end": 747, "referenceAllele": "A", "start": 746 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695622.1:c.595A>T" ], "proteinEffect": { "hgvs": "ENSP00000512062.1:p.Lys199Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS907127" }, { "coordinates": [ { "allele": "T", "end": 747, "referenceAllele": "A", "start": 746 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000695623.1:c.595A>T" ], "proteinEffect": { "hgvs": "ENSP00000512063.1:p.Lys199Ter", "hgvsWellDefined": 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"ENSP00000512057.1:p.Lys200_Ser483delinsProLeuProProGluProAlaAlaAlaProValSerThrSerGluLeuLysLysValValAlaLeuTyrAspTyrMetProMetAsnAlaAsnAspLeuGlnLeuArgLysGlyAspGluTyrPheIleLeuGluGluSerAsnLeuProTrpTrpArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS911688" }, { "coordinates": [ { "allele": "T", "end": 755, "referenceAllele": "A", "start": 754 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000308731.8:c.595A>T" ], "proteinEffect": { "hgvs": "ENSP00000308176.8:p.Lys199Ter", "hgvsWellDefined": "ENSP00000308176.8:p.Lys200_Ser659delinsProLeuProProGluProAlaAlaAlaProValSerThrSerGluLeuLysLysValValAlaLeuTyrAspTyrMetProMetAsnAlaAsnAspLeuGlnLeuArgLysGlyAspGluTyrPheIleLeuGluGluSerAsnLeuProTrpTrpArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS745484", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000308731.8:c.595A>T" }, "RefSeq": { "hgvs": "NM_000061.3:c.595A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000308176.8:p.Lys199Ter" }, "RefSeq": { "hgvs": "NP_000052.1:p.Lys199Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 759, "referenceAllele": "A", "start": 758 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000308731.7:c.595A>T" ], "proteinEffect": { "hgvs": "ENSP00000308176.7:p.Lys199Ter", "hgvsWellDefined": "ENSP00000308176.7:p.Lys200_Ser659delinsProLeuProProGluProAlaAlaAlaProValSerThrSerGluLeuLysLysValValAlaLeuTyrAspTyrMetProMetAsnAlaAsnAspLeuGlnLeuArgLysGlyAspGluTyrPheIleLeuGluGluSerAsnLeuProTrpTrpArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS256097" }, { "coordinates": [ { "allele": "T", "end": 953, "referenceAllele": "A", "start": 952 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000372880.5:c.595A>T" ], "proteinEffect": { "hgvs": "ENSP00000361971.1:p.Lys199Ter", "hgvsWellDefined": "ENSP00000361971.1:p.Lys200_Ser483delinsProLeuProProGluProAlaAlaAlaProValSerThrSerGluLeuLysLysValValAlaLeuTyrAspTyrMetProMetAsnAlaAsnAspLeuGlnLeuArgLysGlyAspGluTyrPheIleLeuGluGluSerAsnLeuProTrpTrpArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS269361" }, { "coordinates": [ { "allele": "T", "end": 595, "referenceAllele": "A", "start": 594 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000618050.4:c.595A>T" ], "proteinEffect": { "hgvs": "ENSP00000479125.1:p.Lys199Ter", "hgvsWellDefined": "ENSP00000479125.1:p.Lys200_Ser568delinsProLeuProProGluProAlaAlaAlaProValSerThrSerGluLeuLysLysValValAlaLeuTyrAspTyrMetProMetAsnAlaAsnAspLeuGlnLeuArgLysGlyAspGluTyrPheIleLeuGluGluSerAsnLeuProTrpTrpArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS403762" }, { "coordinates": [ { "allele": "T", "end": 944, "referenceAllele": "A", "start": 943 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "ENST00000621635.4:c.697A>T" ], "proteinEffect": { "hgvs": "ENSP00000483570.1:p.Lys233Ter", "hgvsWellDefined": "ENSP00000483570.1:p.Lys234_Ser693delinsProLeuProProGluProAlaAlaAlaProValSerThrSerGluLeuLysLysValValAlaLeuTyrAspTyrMetProMetAsnAlaAsnAspLeuGlnLeuArgLysGlyAspGluTyrPheIleLeuGluGluSerAsnLeuProTrpTrpArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS405360" }, { "@id": "http://reg.genome.network/allele/PA2825028742", "coordinates": [ { "allele": "T", "end": 788, "referenceAllele": "A", "start": 787 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "NM_000061.2:c.595A>T", "LRG_128t1:c.595A>T" ], "proteinEffect": { "hgvs": "NP_000052.1:p.Lys199Ter", "hgvsWellDefined": "NP_000052.1:p.Lys200_Ser659delinsProLeuProProGluProAlaAlaAlaProValSerThrSerGluLeuLysLysValValAlaLeuTyrAspTyrMetProMetAsnAlaAsnAspLeuGlnLeuArgLysGlyAspGluTyrPheIleLeuGluGluSerAsnLeuProTrpTrpArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006125" }, { "@id": "http://reg.genome.network/allele/PA2573192153", "coordinates": [ { "allele": "T", "end": 944, "referenceAllele": "A", "start": 943 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "NM_001287344.1:c.697A>T" ], "proteinEffect": { "hgvs": "NP_001274273.1:p.Lys233Ter", "hgvsWellDefined": "NP_001274273.1:p.Lys234_Ser693delinsProLeuProProGluProAlaAlaAlaProValSerThrSerGluLeuLysLysValValAlaLeuTyrAspTyrMetProMetAsnAlaAsnAspLeuGlnLeuArgLysGlyAspGluTyrPheIleLeuGluGluSerAsnLeuProTrpTrpArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS023307" }, { "@id": "http://reg.genome.network/allele/PA2826742729", "coordinates": [ { "allele": "T", "end": 953, "referenceAllele": "A", "start": 952 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "NM_001287345.1:c.595A>T" ], "proteinEffect": { "hgvs": "NP_001274274.1:p.Lys199Ter", "hgvsWellDefined": "NP_001274274.1:p.Lys200_Ser483delinsProLeuProProGluProAlaAlaAlaProValSerThrSerGluLeuLysLysValValAlaLeuTyrAspTyrMetProMetAsnAlaAsnAspLeuGlnLeuArgLysGlyAspGluTyrPheIleLeuGluGluSerAsnLeuProTrpTrpArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS023308" }, { "@id": "http://reg.genome.network/allele/PA2825028742", "coordinates": [ { "allele": "T", "end": 755, "referenceAllele": "A", "start": 754 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "NM_000061.3:c.595A>T" ], "proteinEffect": { "hgvs": "NP_000052.1:p.Lys199Ter", "hgvsWellDefined": "NP_000052.1:p.Lys200_Ser659delinsProLeuProProGluProAlaAlaAlaProValSerThrSerGluLeuLysLysValValAlaLeuTyrAspTyrMetProMetAsnAlaAsnAspLeuGlnLeuArgLysGlyAspGluTyrPheIleLeuGluGluSerAsnLeuProTrpTrpArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674681", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000308731.8:c.595A>T" }, "RefSeq": { "hgvs": "NM_000061.3:c.595A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000308176.8:p.Lys199Ter" }, "RefSeq": { "hgvs": "NP_000052.1:p.Lys199Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2573192153", "coordinates": [ { "allele": "T", "end": 944, "referenceAllele": "A", "start": 943 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "NM_001287344.2:c.697A>T" ], "proteinEffect": { "hgvs": "NP_001274273.1:p.Lys233Ter", "hgvsWellDefined": "NP_001274273.1:p.Lys234_Ser693delinsProLeuProProGluProAlaAlaAlaProValSerThrSerGluLeuLysLysValValAlaLeuTyrAspTyrMetProMetAsnAlaAsnAspLeuGlnLeuArgLysGlyAspGluTyrPheIleLeuGluGluSerAsnLeuProTrpTrpArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaGluLysHisLeuPheSerThrIleProGluLeuIleAsnTyrHisGlnHisAsnSerAlaGlyLeuIleSerArgLeuLysTyrProValSerGlnGlnAsnLysAsnAlaProSerThrAlaGlyLeuGlyTyrGlySerTrpGluIleAspProLysAspLeuThrPheLeuLysGluLeuGlyThrGlyGlnPheGlyValValLysTyrGlyLysTrpArgGlyGlnTyrAspValAlaIleLysMetIleLysGluGlySerMetSerGluAspGluPheIleGluGluAlaLysValMetMetAsnLeuSerHisGluLysLeuValGlnLeuTyrGlyValCysThrLysGlnArgProIlePheIleIleThrGluTyrMetAlaAsnGlyCysLeuLeuAsnTyrLeuArgGluMetArgHisArgPheGlnThrGlnGlnLeuLeuGluMetCysLysAspValCysGluAlaMetGluTyrLeuGluSerLysGlnPheLeuHisArgAspLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716364" }, { "@id": "http://reg.genome.network/allele/PA2826742729", "coordinates": [ { "allele": "T", "end": 920, "referenceAllele": "A", "start": 919 } ], "gene": "http://reg.genome.network/gene/GN001133", "geneNCBI_id": 695, "geneSymbol": "BTK", "hgvs": [ "NM_001287345.2:c.595A>T" ], "proteinEffect": { "hgvs": "NP_001274274.1:p.Lys199Ter", "hgvsWellDefined": "NP_001274274.1:p.Lys200_Ser483delinsProLeuProProGluProAlaAlaAlaProValSerThrSerGluLeuLysLysValValAlaLeuTyrAspTyrMetProMetAsnAlaAsnAspLeuGlnLeuArgLysGlyAspGluTyrPheIleLeuGluGluSerAsnLeuProTrpTrpArgAlaArgAspLysAsnGlyGlnGluGlyTyrIleProSerAsnTyrValThrGluAlaGluAspSerIleGluMetTyrGluTrpTyrSerLysHisMetThrArgSerGlnAlaGluGlnLeuLeuLysGlnGluGlyLysGluGlyGlyPheIleValArgAspSerSerLysAlaGlyLysTyrThrValSerValPheAlaLysSerThrGlyAspProGlnGlyValIleArgHisTyrValValCysSerThrProGlnSerGlnTyrTyrLeuAlaAlaArgAsnCysLeuValAsnAspGlnGlyValValLysValSerAspPheGlyLeuSerArgTyrValLeuAspAspGluTyrThrSerSerValGlySerLysPheProValArgTrpSerProProGluValLeuMetTyrSerLysPheSerSerLysSerAspIleTrpAlaPheGlyValLeuMetTrpGluIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716365" } ], "type": "nucleotide" }