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"XP_011523254.1:p.Arg407_Pro684delinsAlaSerTrpThrLeuValArgThrProGlnTrpAsnGluLeuGlnProProPheAsnAlaAsnHisProLeuLeuLeuAlaAlaAspAlaValGlnTyrTyrGlnPheLeuLeuAlaGlyLeuValProProGlySerProGlyProIleThrArgHisGlySerTyrAspSerLeuAlaSerAspHisSerGlyGlnGluAspGluGluTrpLeuSerGlnValGluIleValThrHisThrGlyProHisArgArgLeuTrpMetGlyProGlnPheGlnPheLysThrIleHisProSerGlyGlnThrThrValIleSerSerSerSerSerValLeuGlnSerHisGlyProSerAspThrProGlnProLeuLeuAspPheAspThrAspAspLeuAspLeuAsnSerLeuArgIleGlnProValArgSerAspProValSerMetProGlySerSerArgProValSerAspArgArgGlyValSerThrValIleAspAlaAlaSerGlyThrPheAspArgSerValThrLeuLeuGluValCysGlySerTrpProGluGlyPheGlyLeuArgHisMetSerSerMetGluHisThrGluGluGlyLeuArgGluArgLeuAlaAspAlaMetAlaGluSerProSerArgAspValValGlySerGlyThrGluLeuGlnArgGluGlySerIleGluThrLeuSerAsnSerSerGlySerThrSerGlySerIleProArgAsnPheAspGlyTyrArgSerProLeuProThrAsnGluSerGlnProLeuSerLeuPheProThrGlyPheProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS092071" }, { "coordinates": [ { "allele": "T", "end": 2101, "referenceAllele": "C", "start": 2100 } ], "gene": "http://reg.genome.network/gene/GN014347", "geneNCBI_id": 54828, "geneSymbol": "BCAS3", "hgvs": [ "XR_934493.1:n.2101C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS129806" }, { "@id": "http://reg.genome.network/allele/PA2825498489", "coordinates": [ { "allele": "T", "end": 2096, "referenceAllele": "C", "start": 2095 } ], "gene": "http://reg.genome.network/gene/GN014347", "geneNCBI_id": 54828, "geneSymbol": "BCAS3", "hgvs": [ "NM_001099432.2:c.1951C>T" ], "proteinEffect": { "hgvs": "NP_001092902.1:p.Arg651Ter", "hgvsWellDefined": "NP_001092902.1:p.Arg651_Pro928delinsAlaSerTrpThrLeuValArgThrProGlnTrpAsnGluLeuGlnProProPheAsnAlaAsnHisProLeuLeuLeuAlaAlaAspAlaValGlnTyrTyrGlnPheLeuLeuAlaGlyLeuValProProGlySerProGlyProIleThrArgHisGlySerTyrAspSerLeuAlaSerAspHisSerGlyGlnGluAspGluGluTrpLeuSerGlnValGluIleValThrHisThrGlyProHisArgArgLeuTrpMetGlyProGlnPheGlnPheLysThrIleHisProSerGlyGlnThrThrValIleSerSerSerSerSerValLeuGlnSerHisGlyProSerAspThrProGlnProLeuLeuAspPheAspThrAspAspLeuAspLeuAsnSerLeuArgIleGlnProValArgSerAspProValSerMetProGlySerSerArgProValSerAspArgArgGlyValSerThrValIleAspAlaAlaSerGlyThrPheAspArgSerValThrLeuLeuGluValCysGlySerTrpProGluGlyPheGlyLeuArgHisMetSerSerMetGluHisThrGluGluGlyLeuArgGluArgLeuAlaAspAlaMetAlaGluSerProSerArgAspValValGlySerGlyThrGluLeuGlnArgGluGlySerIleGluThrLeuSerAsnSerSerGlySerThrSerGlySerIleProArgAsnPheAspGlyTyrArgSerProLeuProThrAsnGluSerGlnProLeuSerLeuPheProThrGlyPheProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511301" }, { "@id": "http://reg.genome.network/allele/PA2827045548", "coordinates": [ { "allele": "T", "end": 2051, "referenceAllele": "C", "start": 2050 } ], "gene": "http://reg.genome.network/gene/GN014347", "geneNCBI_id": 54828, "geneSymbol": "BCAS3", "hgvs": [ "NM_001320470.2:c.1906C>T" ], "proteinEffect": { "hgvs": "NP_001307399.1:p.Arg636Ter", "hgvsWellDefined": "NP_001307399.1:p.Arg636_Glu928delinsAlaSerTrpThrLeuValArgThrProGlnTrpAsnGluLeuGlnProProPheAsnAlaAsnHisProLeuLeuLeuAlaAlaAspAlaValGlnTyrTyrGlnPheLeuLeuAlaGlyLeuValProProGlySerProGlyProIleThrArgHisGlySerTyrAspSerLeuAlaSerAspHisSerGlyGlnGluAspGluGluTrpLeuSerGlnValGluIleValThrHisThrGlyProHisArgArgLeuTrpMetGlyProGlnPheGlnPheLysThrIleHisProSerGlyGlnThrThrValIleSerSerSerSerSerValLeuGlnSerHisGlyProSerAspThrProGlnProLeuLeuAspPheAspThrAspAspLeuAspLeuAsnSerLeuArgIleGlnProValArgSerAspProValSerMetProGlySerSerArgProValSerAspArgArgGlyValSerThrValIleAspAlaAlaSerGlyThrPheAspArgSerValThrLeuLeuGluValCysGlySerTrpProGluGlyPheGlyLeuArgHisMetSerSerMetGluHisThrGluGluGlyLeuArgGluArgLeuAlaAspAlaMetAlaGluSerProSerArgAspValValGlySerGlyThrAspThrAlaLeuAspValAlaValLysThrPheProProGluArgHisValAlaValLysCysPheGlyLysLysLysGlyLysLysLysGlnCysGlnGlnProSerValArgGluGlnProAsnSerAsnLysAlaCysValArgAspGlyGlyArgThrSerAlaArgGlyLysHisArgAspSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS513603" }, { "@id": "http://reg.genome.network/allele/PA2827311598", "coordinates": [ { "allele": "T", "end": 2096, "referenceAllele": "C", "start": 2095 } ], "gene": "http://reg.genome.network/gene/GN014347", "geneNCBI_id": 54828, "geneSymbol": "BCAS3", "hgvs": [ "NM_001330413.1:c.1951C>T" ], "proteinEffect": { "hgvs": "NP_001317342.1:p.Arg651Ter", "hgvsWellDefined": "NP_001317342.1:p.Arg651_Pro950delinsAlaSerTrpThrLeuValArgThrProGlnTrpAsnGluLeuGlnProProPheAsnAlaAsnHisProLeuLeuLeuAlaAlaAspAlaValGlnTyrTyrGlnPheLeuLeuAlaGlyLeuValProProGlySerProGlyProIleThrArgHisGlySerTyrAspSerLeuAlaSerAspHisSerGlyGlnGluAspGluGluTrpLeuSerGlnValGluIleValThrHisThrGlyProHisArgArgLeuTrpMetGlyProGlnPheGlnPheLysThrIleHisProSerGlyGlnThrThrValIleSerSerSerSerSerValLeuGlnSerHisGlyProSerAspThrProGlnProLeuLeuAspPheAspThrAspAspLeuAspLeuAsnSerLeuArgIleGlnProValArgSerAspProValSerMetProGlySerSerArgProValSerAspArgArgGlyValSerThrValIleAspAlaAlaSerGlyThrPheAspArgSerValThrLeuLeuGluValCysGlySerTrpProGluGlyPheGlyLeuArgHisMetSerSerMetGluHisThrGluGluGlyLeuArgGluArgLeuAlaAspAlaMetAlaGluSerProSerArgAspValValGlySerGlyThrAspThrAlaLeuAspValAlaValLysThrPheProProGluArgHisValAlaValLysCysPheGluLeuGlnArgGluGlySerIleGluThrLeuSerAsnSerSerGlySerThrSerGlySerIleProArgAsnPheAspGlyTyrArgSerProLeuProThrAsnGluSerGlnProLeuSerLeuPheProThrGlyPheProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS516794" }, { "@id": "http://reg.genome.network/allele/PA2827311701", "coordinates": [ { "allele": "T", "end": 2051, "referenceAllele": "C", "start": 2050 } ], "gene": "http://reg.genome.network/gene/GN014347", "geneNCBI_id": 54828, "geneSymbol": "BCAS3", "hgvs": [ "NM_001330414.1:c.1906C>T" ], "proteinEffect": { "hgvs": "NP_001317343.1:p.Arg636Ter", "hgvsWellDefined": "NP_001317343.1:p.Arg636_Pro935delinsAlaSerTrpThrLeuValArgThrProGlnTrpAsnGluLeuGlnProProPheAsnAlaAsnHisProLeuLeuLeuAlaAlaAspAlaValGlnTyrTyrGlnPheLeuLeuAlaGlyLeuValProProGlySerProGlyProIleThrArgHisGlySerTyrAspSerLeuAlaSerAspHisSerGlyGlnGluAspGluGluTrpLeuSerGlnValGluIleValThrHisThrGlyProHisArgArgLeuTrpMetGlyProGlnPheGlnPheLysThrIleHisProSerGlyGlnThrThrValIleSerSerSerSerSerValLeuGlnSerHisGlyProSerAspThrProGlnProLeuLeuAspPheAspThrAspAspLeuAspLeuAsnSerLeuArgIleGlnProValArgSerAspProValSerMetProGlySerSerArgProValSerAspArgArgGlyValSerThrValIleAspAlaAlaSerGlyThrPheAspArgSerValThrLeuLeuGluValCysGlySerTrpProGluGlyPheGlyLeuArgHisMetSerSerMetGluHisThrGluGluGlyLeuArgGluArgLeuAlaAspAlaMetAlaGluSerProSerArgAspValValGlySerGlyThrAspThrAlaLeuAspValAlaValLysThrPheProProGluArgHisValAlaValLysCysPheGluLeuGlnArgGluGlySerIleGluThrLeuSerAsnSerSerGlySerThrSerGlySerIleProArgAsnPheAspGlyTyrArgSerProLeuProThrAsnGluSerGlnProLeuSerLeuPheProThrGlyPheProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS516795" }, { "@id": "http://reg.genome.network/allele/PA2573203346", "coordinates": [ { "allele": "T", "end": 2186, "referenceAllele": "C", "start": 2185 } ], "gene": "http://reg.genome.network/gene/GN014347", "geneNCBI_id": 54828, "geneSymbol": "BCAS3", "hgvs": [ "NM_001353144.1:c.2041C>T" ], "proteinEffect": { "hgvs": "NP_001340073.1:p.Arg681Ter", "hgvsWellDefined": "NP_001340073.1:p.Arg681_Pro958delinsAlaSerTrpThrLeuValArgThrProGlnTrpAsnGluLeuGlnProProPheAsnAlaAsnHisProLeuLeuLeuAlaAlaAspAlaValGlnTyrTyrGlnPheLeuLeuAlaGlyLeuValProProGlySerProGlyProIleThrArgHisGlySerTyrAspSerLeuAlaSerAspHisSerGlyGlnGluAspGluGluTrpLeuSerGlnValGluIleValThrHisThrGlyProHisArgArgLeuTrpMetGlyProGlnPheGlnPheLysThrIleHisProSerGlyGlnThrThrValIleSerSerSerSerSerValLeuGlnSerHisGlyProSerAspThrProGlnProLeuLeuAspPheAspThrAspAspLeuAspLeuAsnSerLeuArgIleGlnProValArgSerAspProValSerMetProGlySerSerArgProValSerAspArgArgGlyValSerThrValIleAspAlaAlaSerGlyThrPheAspArgSerValThrLeuLeuGluValCysGlySerTrpProGluGlyPheGlyLeuArgHisMetSerSerMetGluHisThrGluGluGlyLeuArgGluArgLeuAlaAspAlaMetAlaGluSerProSerArgAspValValGlySerGlyThrGluLeuGlnArgGluGlySerIleGluThrLeuSerAsnSerSerGlySerThrSerGlySerIleProArgAsnPheAspGlyTyrArgSerProLeuProThrAsnGluSerGlnProLeuSerLeuPheProThrGlyPheProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521497" }, { "@id": "http://reg.genome.network/allele/PA2827710243", "coordinates": [ { "allele": "T", "end": 2141, "referenceAllele": "C", "start": 2140 } ], "gene": "http://reg.genome.network/gene/GN014347", "geneNCBI_id": 54828, "geneSymbol": "BCAS3", "hgvs": [ "NM_001353145.1:c.1996C>T" ], "proteinEffect": { "hgvs": "NP_001340074.1:p.Arg666Ter", "hgvsWellDefined": "NP_001340074.1:p.Arg666_Pro943delinsAlaSerTrpThrLeuValArgThrProGlnTrpAsnGluLeuGlnProProPheAsnAlaAsnHisProLeuLeuLeuAlaAlaAspAlaValGlnTyrTyrGlnPheLeuLeuAlaGlyLeuValProProGlySerProGlyProIleThrArgHisGlySerTyrAspSerLeuAlaSerAspHisSerGlyGlnGluAspGluGluTrpLeuSerGlnValGluIleValThrHisThrGlyProHisArgArgLeuTrpMetGlyProGlnPheGlnPheLysThrIleHisProSerGlyGlnThrThrValIleSerSerSerSerSerValLeuGlnSerHisGlyProSerAspThrProGlnProLeuLeuAspPheAspThrAspAspLeuAspLeuAsnSerLeuArgIleGlnProValArgSerAspProValSerMetProGlySerSerArgProValSerAspArgArgGlyValSerThrValIleAspAlaAlaSerGlyThrPheAspArgSerValThrLeuLeuGluValCysGlySerTrpProGluGlyPheGlyLeuArgHisMetSerSerMetGluHisThrGluGluGlyLeuArgGluArgLeuAlaAspAlaMetAlaGluSerProSerArgAspValValGlySerGlyThrGluLeuGlnArgGluGlySerIleGluThrLeuSerAsnSerSerGlySerThrSerGlySerIleProArgAsnPheAspGlyTyrArgSerProLeuProThrAsnGluSerGlnProLeuSerLeuPheProThrGlyPheProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521498" }, { "@id": "http://reg.genome.network/allele/PA2827710320", "coordinates": [ { "allele": "T", "end": 2096, "referenceAllele": "C", "start": 2095 } ], "gene": "http://reg.genome.network/gene/GN014347", "geneNCBI_id": 54828, "geneSymbol": "BCAS3", "hgvs": [ "NM_001353146.1:c.1951C>T" ], "proteinEffect": { "hgvs": "NP_001340075.1:p.Arg651Ter", "hgvsWellDefined": "NP_001340075.1:p.Arg651_Glu921delinsAlaSerTrpThrLeuValArgThrProGlnTrpAsnGluLeuGlnProProPheAsnAlaAsnHisProLeuLeuLeuAlaAlaAspAlaValGlnTyrTyrGlnPheLeuLeuAlaGlyLeuValProProGlySerProGlyProIleThrArgHisGlySerTyrAspSerLeuAlaSerAspHisSerGlyGlnGluAspGluGluTrpLeuSerGlnValGluIleValThrHisThrGlyProHisArgArgLeuTrpMetGlyProGlnPheGlnPheLysThrIleHisProSerGlyGlnThrThrValIleSerSerSerSerSerValLeuGlnSerHisGlyProSerAspThrProGlnProLeuLeuAspPheAspThrAspAspLeuAspLeuAsnSerLeuArgIleGlnProValArgSerAspProValSerMetProGlySerSerArgProValSerAspArgArgGlyValSerThrValIleAspAlaAlaSerGlyThrPheAspArgSerValThrLeuLeuGluValCysGlySerTrpProGluGlyPheGlyLeuArgHisMetSerSerMetGluHisThrGluGluGlyLeuArgGluArgLeuAlaAspAlaMetAlaGluSerProSerArgAspValValGlySerGlyThrGlyLysLysLysGlyLysLysLysGlnCysGlnGlnProSerValArgGluGlnProAsnSerAsnLysAlaCysValArgAspGlyGlyArgThrSerAlaArgGlyLysHisArgAspSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521499" }, { "@id": "http://reg.genome.network/allele/PA2829870405", "coordinates": [ { "allele": "T", "end": 2051, "referenceAllele": "C", "start": 2050 } ], "gene": "http://reg.genome.network/gene/GN014347", "geneNCBI_id": 54828, "geneSymbol": "BCAS3", "hgvs": [ "NM_017679.4:c.1906C>T" ], "proteinEffect": { "hgvs": "NP_060149.3:p.Arg636Ter", "hgvsWellDefined": "NP_060149.3:p.Arg636_Pro913delinsAlaSerTrpThrLeuValArgThrProGlnTrpAsnGluLeuGlnProProPheAsnAlaAsnHisProLeuLeuLeuAlaAlaAspAlaValGlnTyrTyrGlnPheLeuLeuAlaGlyLeuValProProGlySerProGlyProIleThrArgHisGlySerTyrAspSerLeuAlaSerAspHisSerGlyGlnGluAspGluGluTrpLeuSerGlnValGluIleValThrHisThrGlyProHisArgArgLeuTrpMetGlyProGlnPheGlnPheLysThrIleHisProSerGlyGlnThrThrValIleSerSerSerSerSerValLeuGlnSerHisGlyProSerAspThrProGlnProLeuLeuAspPheAspThrAspAspLeuAspLeuAsnSerLeuArgIleGlnProValArgSerAspProValSerMetProGlySerSerArgProValSerAspArgArgGlyValSerThrValIleAspAlaAlaSerGlyThrPheAspArgSerValThrLeuLeuGluValCysGlySerTrpProGluGlyPheGlyLeuArgHisMetSerSerMetGluHisThrGluGluGlyLeuArgGluArgLeuAlaAspAlaMetAlaGluSerProSerArgAspValValGlySerGlyThrGluLeuGlnArgGluGlySerIleGluThrLeuSerAsnSerSerGlySerThrSerGlySerIleProArgAsnPheAspGlyTyrArgSerProLeuProThrAsnGluSerGlnProLeuSerLeuPheProThrGlyPheProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525821" }, { "coordinates": [ { "allele": "T", "end": 2102, "referenceAllele": "C", "start": 2101 } ], "gene": "http://reg.genome.network/gene/GN014347", "geneNCBI_id": 54828, "geneSymbol": "BCAS3", "hgvs": [ "XM_011524939.2:c.2041C>T" ], "proteinEffect": { "hgvs": "XP_011523241.1:p.Arg681Ter", "hgvsWellDefined": "XP_011523241.1:p.Arg681_Pro1073delinsAlaSerTrpThrLeuValArgThrProGlnTrpAsnGluLeuGlnProProPheAsnAlaAsnHisProLeuLeuLeuAlaAlaAspAlaValGlnTyrTyrGlnPheLeuLeuAlaGlyLeuValProProGlySerProGlyProIleThrArgHisGlySerTyrAspSerLeuAlaSerAspHisSerGlyGlnGluAspGluGluTrpLeuSerGlnValGluIleValThrHisThrGlyProHisArgArgLeuTrpMetGlyProGlnPheGlnPheLysThrIleHisProSerGlyGlnThrThrValIleSerSerSerSerSerValLeuGlnSerHisGlyProSerAspThrProGlnProLeuLeuAspPheAspThrAspAspLeuAspLeuAsnSerLeuArgIleGlnProValArgSerAspProValSerMetProGlySerSerArgProValSerAspArgArgGlyValSerThrValIleAspAlaAlaSerValAspSerSerThrAlaLeuGluTrpGlyThrSerArgProSerHisSerArgSerAlaHisHisProSerValGlnGlyAlaArgSerSerAlaHisLeuLysProGlnGlyLeuMetGluThrIleHisSerHisSerArgMetSerGlnHisCysMetGlnProAlaMetAlaThrGlyArgArgValArgHisGlyProTrpSerCysArgLeuThrCysProArgLeuSerGlnAspArgAlaGlnAspLeuThrGluGluAlaSerGlnGlnGlyThrPheAspArgSerValThrLeuLeuGluValCysGlySerTrpProGluGlyPheGlyLeuArgHisMetSerSerMetGluHisThrGluGluGlyLeuArgGluArgLeuAlaAspAlaMetAlaGluSerProSerArgAspValValGlySerGlyThrAspThrAlaLeuAspValAlaValLysThrPheProProGluArgHisValAlaValLysCysPheGluLeuGlnArgGluGlySerIleGluThrLeuSerAsnSerSerGlySerThrSerGlySerIleProArgAsnPheAspGlyTyrArgSerProLeuProThrAsnGluSerGlnProLeuSerLeuPheProThrGlyPheProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547657" }, { "coordinates": [ { "allele": "T", "end": 2050, "referenceAllele": "C", "start": 2049 } ], "gene": "http://reg.genome.network/gene/GN014347", "geneNCBI_id": 54828, "geneSymbol": "BCAS3", "hgvs": [ "XM_011524940.2:c.1996C>T" ], "proteinEffect": { "hgvs": "XP_011523242.1:p.Arg666Ter", "hgvsWellDefined": "XP_011523242.1:p.Arg666_Pro1058delinsAlaSerTrpThrLeuValArgThrProGlnTrpAsnGluLeuGlnProProPheAsnAlaAsnHisProLeuLeuLeuAlaAlaAspAlaValGlnTyrTyrGlnPheLeuLeuAlaGlyLeuValProProGlySerProGlyProIleThrArgHisGlySerTyrAspSerLeuAlaSerAspHisSerGlyGlnGluAspGluGluTrpLeuSerGlnValGluIleValThrHisThrGlyProHisArgArgLeuTrpMetGlyProGlnPheGlnPheLysThrIleHisProSerGlyGlnThrThrValIleSerSerSerSerSerValLeuGlnSerHisGlyProSerAspThrProGlnProLeuLeuAspPheAspThrAspAspLeuAspLeuAsnSerLeuArgIleGlnProValArgSerAspProValSerMetProGlySerSerArgProValSerAspArgArgGlyValSerThrValIleAspAlaAlaSerValAspSerSerThrAlaLeuGluTrpGlyThrSerArgProSerHisSerArgSerAlaHisHisProSerValGlnGlyAlaArgSerSerAlaHisLeuLysProGlnGlyLeuMetGluThrIleHisSerHisSerArgMetSerGlnHisCysMetGlnProAlaMetAlaThrGlyArgArgValArgHisGlyProTrpSerCysArgLeuThrCysProArgLeuSerGlnAspArgAlaGlnAspLeuThrGluGluAlaSerGlnGlnGlyThrPheAspArgSerValThrLeuLeuGluValCysGlySerTrpProGluGlyPheGlyLeuArgHisMetSerSerMetGluHisThrGluGluGlyLeuArgGluArgLeuAlaAspAlaMetAlaGluSerProSerArgAspValValGlySerGlyThrAspThrAlaLeuAspValAlaValLysThrPheProProGluArgHisValAlaValLysCysPheGluLeuGlnArgGluGlySerIleGluThrLeuSerAsnSerSerGlySerThrSerGlySerIleProArgAsnPheAspGlyTyrArgSerProLeuProThrAsnGluSerGlnProLeuSerLeuPheProThrGlyPheProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547658" }, { "coordinates": [ { "allele": "T", "end": 1967, "referenceAllele": "C", "start": 1966 } ], "gene": "http://reg.genome.network/gene/GN014347", "geneNCBI_id": 54828, "geneSymbol": "BCAS3", "hgvs": [ "XM_011524941.2:c.1906C>T" ], "proteinEffect": { "hgvs": "XP_011523243.1:p.Arg636Ter", "hgvsWellDefined": "XP_011523243.1:p.Arg636_Pro1028delinsAlaSerTrpThrLeuValArgThrProGlnTrpAsnGluLeuGlnProProPheAsnAlaAsnHisProLeuLeuLeuAlaAlaAspAlaValGlnTyrTyrGlnPheLeuLeuAlaGlyLeuValProProGlySerProGlyProIleThrArgHisGlySerTyrAspSerLeuAlaSerAspHisSerGlyGlnGluAspGluGluTrpLeuSerGlnValGluIleValThrHisThrGlyProHisArgArgLeuTrpMetGlyProGlnPheGlnPheLysThrIleHisProSerGlyGlnThrThrValIleSerSerSerSerSerValLeuGlnSerHisGlyProSerAspThrProGlnProLeuLeuAspPheAspThrAspAspLeuAspLeuAsnSerLeuArgIleGlnProValArgSerAspProValSerMetProGlySerSerArgProValSerAspArgArgGlyValSerThrValIleAspAlaAlaSerValAspSerSerThrAlaLeuGluTrpGlyThrSerArgProSerHisSerArgSerAlaHisHisProSerValGlnGlyAlaArgSerSerAlaHisLeuLysProGlnGlyLeuMetGluThrIleHisSerHisSerArgMetSerGlnHisCysMetGlnProAlaMetAlaThrGlyArgArgValArgHisGlyProTrpSerCysArgLeuThrCysProArgLeuSerGlnAspArgAlaGlnAspLeuThrGluGluAlaSerGlnGlnGlyThrPheAspArgSerValThrLeuLeuGluValCysGlySerTrpProGluGlyPheGlyLeuArgHisMetSerSerMetGluHisThrGluGluGlyLeuArgGluArgLeuAlaAspAlaMetAlaGluSerProSerArgAspValValGlySerGlyThrAspThrAlaLeuAspValAlaValLysThrPheProProGluArgHisValAlaValLysCysPheGluLeuGlnArgGluGlySerIleGluThrLeuSerAsnSerSerGlySerThrSerGlySerIleProArgAsnPheAspGlyTyrArgSerProLeuProThrAsnGluSerGlnProLeuSerLeuPheProThrGlyPheProTer" 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"http://reg.genome.network/refseq/RS547660" }, { "coordinates": [ { "allele": "T", "end": 2050, "referenceAllele": "C", "start": 2049 } ], "gene": "http://reg.genome.network/gene/GN014347", "geneNCBI_id": 54828, "geneSymbol": "BCAS3", "hgvs": [ "XM_011524943.3:c.1996C>T" ], "proteinEffect": { "hgvs": "XP_011523245.1:p.Arg666Ter", "hgvsWellDefined": "XP_011523245.1:p.Arg666_Pro965delinsAlaSerTrpThrLeuValArgThrProGlnTrpAsnGluLeuGlnProProPheAsnAlaAsnHisProLeuLeuLeuAlaAlaAspAlaValGlnTyrTyrGlnPheLeuLeuAlaGlyLeuValProProGlySerProGlyProIleThrArgHisGlySerTyrAspSerLeuAlaSerAspHisSerGlyGlnGluAspGluGluTrpLeuSerGlnValGluIleValThrHisThrGlyProHisArgArgLeuTrpMetGlyProGlnPheGlnPheLysThrIleHisProSerGlyGlnThrThrValIleSerSerSerSerSerValLeuGlnSerHisGlyProSerAspThrProGlnProLeuLeuAspPheAspThrAspAspLeuAspLeuAsnSerLeuArgIleGlnProValArgSerAspProValSerMetProGlySerSerArgProValSerAspArgArgGlyValSerThrValIleAspAlaAlaSerGlyThrPheAspArgSerValThrLeuLeuGluValCysGlySerTrpProGluGlyPheGlyLeuArgHisMetSerSerMetGluHisThrGluGluGlyLeuArgGluArgLeuAlaAspAlaMetAlaGluSerProSerArgAspValValGlySerGlyThrAspThrAlaLeuAspValAlaValLysThrPheProProGluArgHisValAlaValLysCysPheGluLeuGlnArgGluGlySerIleGluThrLeuSerAsnSerSerGlySerThrSerGlySerIleProArgAsnPheAspGlyTyrArgSerProLeuProThrAsnGluSerGlnProLeuSerLeuPheProThrGlyPheProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547661" }, { "coordinates": [ { "allele": "T", "end": 2095, "referenceAllele": "C", "start": 2094 } ], "gene": "http://reg.genome.network/gene/GN014347", "geneNCBI_id": 54828, "geneSymbol": "BCAS3", "hgvs": [ "XM_011524946.3:c.2041C>T" ], "proteinEffect": { "hgvs": "XP_011523248.1:p.Arg681Ter", "hgvsWellDefined": "XP_011523248.1:p.Arg681_Phe865delinsAlaSerTrpThrLeuValArgThrProGlnTrpAsnGluLeuGlnProProPheAsnAlaAsnHisProLeuLeuLeuAlaAlaAspAlaValGlnTyrTyrGlnPheLeuLeuAlaGlyLeuValProProGlySerProGlyProIleThrArgHisGlySerTyrAspSerLeuAlaSerAspHisSerGlyGlnGluAspGluGluTrpLeuSerGlnValGluIleValThrHisThrGlyProHisArgArgLeuTrpMetGlyProGlnPheGlnPheLysThrIleHisProSerGlyGlnThrThrValIleSerSerSerSerSerValLeuGlnSerHisGlyProSerAspThrProGlnProLeuLeuAspPheAspThrAspAspLeuAspLeuAsnSerLeuArgIleGlnProValArgSerAspProValSerMetProGlySerSerArgProValSerAspArgArgGlyValSerThrValIleAspAlaAlaSerGlyLeuPheSerPheGlnGluAlaMetValProPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547662" }, { "coordinates": [ { "allele": "T", "end": 2095, "referenceAllele": "C", "start": 2094 } ], "gene": "http://reg.genome.network/gene/GN014347", "geneNCBI_id": 54828, "geneSymbol": "BCAS3", "hgvs": [ "XM_011524947.2:c.2041C>T" ], "proteinEffect": { "hgvs": "XP_011523249.1:p.Arg681Ter", "hgvsWellDefined": "XP_011523249.1:p.Arg681_Met862delinsAlaSerTrpThrLeuValArgThrProGlnTrpAsnGluLeuGlnProProPheAsnAlaAsnHisProLeuLeuLeuAlaAlaAspAlaValGlnTyrTyrGlnPheLeuLeuAlaGlyLeuValProProGlySerProGlyProIleThrArgHisGlySerTyrAspSerLeuAlaSerAspHisSerGlyGlnGluAspGluGluTrpLeuSerGlnValGluIleValThrHisThrGlyProHisArgArgLeuTrpMetGlyProGlnPheGlnPheLysThrIleHisProSerGlyGlnThrThrValIleSerSerSerSerSerValLeuGlnSerHisGlyProSerAspThrProGlnProLeuLeuAspPheAspThrAspAspLeuAspLeuAsnSerLeuArgIleGlnProValArgSerAspProValSerMetProGlySerSerArgProValSerAspArgArgGlyValSerThrValIleAspAlaAlaSerAspLeuAlaValLeuLeuLeuSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547663" }, { "coordinates": [ { "allele": "T", "end": 2095, "referenceAllele": "C", "start": 2094 } ], "gene": "http://reg.genome.network/gene/GN014347", "geneNCBI_id": 54828, "geneSymbol": "BCAS3", "hgvs": [ "XM_011524948.3:c.2041C>T" ], "proteinEffect": { "hgvs": "XP_011523250.1:p.Arg681Ter", "hgvsWellDefined": "XP_011523250.1:p.Arg681_Val861delinsAlaSerTrpThrLeuValArgThrProGlnTrpAsnGluLeuGlnProProPheAsnAlaAsnHisProLeuLeuLeuAlaAlaAspAlaValGlnTyrTyrGlnPheLeuLeuAlaGlyLeuValProProGlySerProGlyProIleThrArgHisGlySerTyrAspSerLeuAlaSerAspHisSerGlyGlnGluAspGluGluTrpLeuSerGlnValGluIleValThrHisThrGlyProHisArgArgLeuTrpMetGlyProGlnPheGlnPheLysThrIleHisProSerGlyGlnThrThrValIleSerSerSerSerSerValLeuGlnSerHisGlyProSerAspThrProGlnProLeuLeuAspPheAspThrAspAspLeuAspLeuAsnSerLeuArgIleGlnProValArgSerAspProValSerMetProGlySerSerArgProValSerAspArgArgGlyValSerThrValIleAspAlaAlaSerGlySerLeuProProGlyIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547664" }, { "coordinates": [ { "allele": "T", "end": 2095, "referenceAllele": "C", "start": 2094 } ], "gene": "http://reg.genome.network/gene/GN014347", "geneNCBI_id": 54828, "geneSymbol": "BCAS3", "hgvs": [ "XM_011524949.3:c.2041C>T" ], "proteinEffect": { "hgvs": "XP_011523251.1:p.Arg681Ter", "hgvsWellDefined": "XP_011523251.1:p.Arg681_Thr859delinsAlaSerTrpThrLeuValArgThrProGlnTrpAsnGluLeuGlnProProPheAsnAlaAsnHisProLeuLeuLeuAlaAlaAspAlaValGlnTyrTyrGlnPheLeuLeuAlaGlyLeuValProProGlySerProGlyProIleThrArgHisGlySerTyrAspSerLeuAlaSerAspHisSerGlyGlnGluAspGluGluTrpLeuSerGlnValGluIleValThrHisThrGlyProHisArgArgLeuTrpMetGlyProGlnPheGlnPheLysThrIleHisProSerGlyGlnThrThrValIleSerSerSerSerSerValLeuGlnSerHisGlyProSerAspThrProGlnProLeuLeuAspPheAspThrAspAspLeuAspLeuAsnSerLeuArgIleGlnProValArgSerAspProValSerMetProGlySerSerArgProValSerAspArgArgGlyValSerThrValIleAspAlaAlaSerAspCysGluValThrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547665" }, { "coordinates": [ { "allele": "T", "end": 2095, "referenceAllele": "C", "start": 2094 } ], "gene": "http://reg.genome.network/gene/GN014347", "geneNCBI_id": 54828, "geneSymbol": "BCAS3", "hgvs": [ "XM_011524950.2:c.2041C>T" ], "proteinEffect": { "hgvs": "XP_011523252.1:p.Arg681Ter", "hgvsWellDefined": "XP_011523252.1:p.Arg681_Leu856delinsAlaSerTrpThrLeuValArgThrProGlnTrpAsnGluLeuGlnProProPheAsnAlaAsnHisProLeuLeuLeuAlaAlaAspAlaValGlnTyrTyrGlnPheLeuLeuAlaGlyLeuValProProGlySerProGlyProIleThrArgHisGlySerTyrAspSerLeuAlaSerAspHisSerGlyGlnGluAspGluGluTrpLeuSerGlnValGluIleValThrHisThrGlyProHisArgArgLeuTrpMetGlyProGlnPheGlnPheLysThrIleHisProSerGlyGlnThrThrValIleSerSerSerSerSerValLeuGlnSerHisGlyProSerAspThrProGlnProLeuLeuAspPheAspThrAspAspLeuAspLeuAsnSerLeuArgIleGlnProValArgSerAspProValSerMetProGlySerSerArgProValSerAspArgArgGlyValSerThrValIleAspAlaAlaSerGlyValLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547666" }, { "coordinates": [ { "allele": "T", "end": 2095, "referenceAllele": "C", "start": 2094 } ], "gene": "http://reg.genome.network/gene/GN014347", "geneNCBI_id": 54828, "geneSymbol": "BCAS3", "hgvs": [ "XM_011524951.3:c.2041C>T" ], "proteinEffect": { "hgvs": "XP_011523253.1:p.Arg681Ter", "hgvsWellDefined": "XP_011523253.1:p.Arg681_Cys856delinsAlaSerTrpThrLeuValArgThrProGlnTrpAsnGluLeuGlnProProPheAsnAlaAsnHisProLeuLeuLeuAlaAlaAspAlaValGlnTyrTyrGlnPheLeuLeuAlaGlyLeuValProProGlySerProGlyProIleThrArgHisGlySerTyrAspSerLeuAlaSerAspHisSerGlyGlnGluAspGluGluTrpLeuSerGlnValGluIleValThrHisThrGlyProHisArgArgLeuTrpMetGlyProGlnPheGlnPheLysThrIleHisProSerGlyGlnThrThrValIleSerSerSerSerSerValLeuGlnSerHisGlyProSerAspThrProGlnProLeuLeuAspPheAspThrAspAspLeuAspLeuAsnSerLeuArgIleGlnProValArgSerAspProValSerMetProGlySerSerArgProValSerAspArgArgGlyValSerThrValIleAspAlaAlaSerGlyGlyCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547667" }, { "coordinates": [ { "allele": "T", "end": 2095, "referenceAllele": "C", "start": 2094 } ], "gene": "http://reg.genome.network/gene/GN014347", "geneNCBI_id": 54828, "geneSymbol": "BCAS3", "hgvs": [ "XM_017024783.2:c.2041C>T" ], "proteinEffect": { "hgvs": "XP_016880272.1:p.Arg681Ter", "hgvsWellDefined": "XP_016880272.1:p.Arg681_Glu1066delinsAlaSerTrpThrLeuValArgThrProGlnTrpAsnGluLeuGlnProProPheAsnAlaAsnHisProLeuLeuLeuAlaAlaAspAlaValGlnTyrTyrGlnPheLeuLeuAlaGlyLeuValProProGlySerProGlyProIleThrArgHisGlySerTyrAspSerLeuAlaSerAspHisSerGlyGlnGluAspGluGluTrpLeuSerGlnValGluIleValThrHisThrGlyProHisArgArgLeuTrpMetGlyProGlnPheGlnPheLysThrIleHisProSerGlyGlnThrThrValIleSerSerSerSerSerValLeuGlnSerHisGlyProSerAspThrProGlnProLeuLeuAspPheAspThrAspAspLeuAspLeuAsnSerLeuArgIleGlnProValArgSerAspProValSerMetProGlySerSerArgProValSerAspArgArgGlyValSerThrValIleAspAlaAlaSerValAspSerSerThrAlaLeuGluTrpGlyThrSerArgProSerHisSerArgSerAlaHisHisProSerValGlnGlyAlaArgSerSerAlaHisLeuLysProGlnGlyLeuMetGluThrIleHisSerHisSerArgMetSerGlnHisCysMetGlnProAlaMetAlaThrGlyArgArgValArgHisGlyProTrpSerCysArgLeuThrCysProArgLeuSerGlnAspArgAlaGlnAspLeuThrGluGluAlaSerGlnGlnGlyThrPheAspArgSerValThrLeuLeuGluValCysGlySerTrpProGluGlyPheGlyLeuArgHisMetSerSerMetGluHisThrGluGluGlyLeuArgGluArgLeuAlaAspAlaMetAlaGluSerProSerArgAspValValGlySerGlyThrAspThrAlaLeuAspValAlaValLysThrPheProProGluArgHisValAlaValLysCysPheGlyLysLysLysGlyLysLysLysGlnCysGlnGlnProSerValArgGluGlnProAsnSerAsnLysAlaCysValArgAspGlyGlyArgThrSerAlaArgGlyLysHisArgAspSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS575261" }, { "coordinates": [ { "allele": "T", "end": 2095, "referenceAllele": "C", "start": 2094 } ], "gene": "http://reg.genome.network/gene/GN014347", "geneNCBI_id": 54828, "geneSymbol": "BCAS3", "hgvs": [ "XM_017024784.2:c.2041C>T" ], "proteinEffect": { "hgvs": "XP_016880273.1:p.Arg681Ter", "hgvsWellDefined": "XP_016880273.1:p.Arg681_Pro1051delinsAlaSerTrpThrLeuValArgThrProGlnTrpAsnGluLeuGlnProProPheAsnAlaAsnHisProLeuLeuLeuAlaAlaAspAlaValGlnTyrTyrGlnPheLeuLeuAlaGlyLeuValProProGlySerProGlyProIleThrArgHisGlySerTyrAspSerLeuAlaSerAspHisSerGlyGlnGluAspGluGluTrpLeuSerGlnValGluIleValThrHisThrGlyProHisArgArgLeuTrpMetGlyProGlnPheGlnPheLysThrIleHisProSerGlyGlnThrThrValIleSerSerSerSerSerValLeuGlnSerHisGlyProSerAspThrProGlnProLeuLeuAspPheAspThrAspAspLeuAspLeuAsnSerLeuArgIleGlnProValArgSerAspProValSerMetProGlySerSerArgProValSerAspArgArgGlyValSerThrValIleAspAlaAlaSerValAspSerSerThrAlaLeuGluTrpGlyThrSerArgProSerHisSerArgSerAlaHisHisProSerValGlnGlyAlaArgSerSerAlaHisLeuLysProGlnGlyLeuMetGluThrIleHisSerHisSerArgMetSerGlnHisCysMetGlnProAlaMetAlaThrGlyArgArgValArgHisGlyProTrpSerCysArgLeuThrCysProArgLeuSerGlnAspArgAlaGlnAspLeuThrGluGluAlaSerGlnGlnGlyThrPheAspArgSerValThrLeuLeuGluValCysGlySerTrpProGluGlyPheGlyLeuArgHisMetSerSerMetGluHisThrGluGluGlyLeuArgGluArgLeuAlaAspAlaMetAlaGluSerProSerArgAspValValGlySerGlyThrGluLeuGlnArgGluGlySerIleGluThrLeuSerAsnSerSerGlySerThrSerGlySerIleProArgAsnPheAspGlyTyrArgSerProLeuProThrAsnGluSerGlnProLeuSerLeuPheProThrGlyPheProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS575262" }, { "coordinates": [ { "allele": "T", "end": 2095, "referenceAllele": "C", "start": 2094 } ], "gene": "http://reg.genome.network/gene/GN014347", "geneNCBI_id": 54828, "geneSymbol": "BCAS3", "hgvs": [ "XM_017024785.2:c.2041C>T" ], "proteinEffect": { "hgvs": "XP_016880274.1:p.Arg681Ter", "hgvsWellDefined": "XP_016880274.1:p.Arg681_Glu1044delinsAlaSerTrpThrLeuValArgThrProGlnTrpAsnGluLeuGlnProProPheAsnAlaAsnHisProLeuLeuLeuAlaAlaAspAlaValGlnTyrTyrGlnPheLeuLeuAlaGlyLeuValProProGlySerProGlyProIleThrArgHisGlySerTyrAspSerLeuAlaSerAspHisSerGlyGlnGluAspGluGluTrpLeuSerGlnValGluIleValThrHisThrGlyProHisArgArgLeuTrpMetGlyProGlnPheGlnPheLysThrIleHisProSerGlyGlnThrThrValIleSerSerSerSerSerValLeuGlnSerHisGlyProSerAspThrProGlnProLeuLeuAspPheAspThrAspAspLeuAspLeuAsnSerLeuArgIleGlnProValArgSerAspProValSerMetProGlySerSerArgProValSerAspArgArgGlyValSerThrValIleAspAlaAlaSerValAspSerSerThrAlaLeuGluTrpGlyThrSerArgProSerHisSerArgSerAlaHisHisProSerValGlnGlyAlaArgSerSerAlaHisLeuLysProGlnGlyLeuMetGluThrIleHisSerHisSerArgMetSerGlnHisCysMetGlnProAlaMetAlaThrGlyArgArgValArgHisGlyProTrpSerCysArgLeuThrCysProArgLeuSerGlnAspArgAlaGlnAspLeuThrGluGluAlaSerGlnGlnGlyThrPheAspArgSerValThrLeuLeuGluValCysGlySerTrpProGluGlyPheGlyLeuArgHisMetSerSerMetGluHisThrGluGluGlyLeuArgGluArgLeuAlaAspAlaMetAlaGluSerProSerArgAspValValGlySerGlyThrGlyLysLysLysGlyLysLysLysGlnCysGlnGlnProSerValArgGluGlnProAsnSerAsnLysAlaCysValArgAspGlyGlyArgThrSerAlaArgGlyLysHisArgAspSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS575263" }, { "coordinates": [ { "allele": "T", "end": 2012, "referenceAllele": "C", "start": 2011 } ], "gene": "http://reg.genome.network/gene/GN014347", "geneNCBI_id": 54828, "geneSymbol": "BCAS3", "hgvs": [ "XM_017024786.2:c.1951C>T" ], "proteinEffect": { "hgvs": "XP_016880275.1:p.Arg651Ter", "hgvsWellDefined": "XP_016880275.1:p.Arg651_Pro1043delinsAlaSerTrpThrLeuValArgThrProGlnTrpAsnGluLeuGlnProProPheAsnAlaAsnHisProLeuLeuLeuAlaAlaAspAlaValGlnTyrTyrGlnPheLeuLeuAlaGlyLeuValProProGlySerProGlyProIleThrArgHisGlySerTyrAspSerLeuAlaSerAspHisSerGlyGlnGluAspGluGluTrpLeuSerGlnValGluIleValThrHisThrGlyProHisArgArgLeuTrpMetGlyProGlnPheGlnPheLysThrIleHisProSerGlyGlnThrThrValIleSerSerSerSerSerValLeuGlnSerHisGlyProSerAspThrProGlnProLeuLeuAspPheAspThrAspAspLeuAspLeuAsnSerLeuArgIleGlnProValArgSerAspProValSerMetProGlySerSerArgProValSerAspArgArgGlyValSerThrValIleAspAlaAlaSerValAspSerSerThrAlaLeuGluTrpGlyThrSerArgProSerHisSerArgSerAlaHisHisProSerValGlnGlyAlaArgSerSerAlaHisLeuLysProGlnGlyLeuMetGluThrIleHisSerHisSerArgMetSerGlnHisCysMetGlnProAlaMetAlaThrGlyArgArgValArgHisGlyProTrpSerCysArgLeuThrCysProArgLeuSerGlnAspArgAlaGlnAspLeuThrGluGluAlaSerGlnGlnGlyThrPheAspArgSerValThrLeuLeuGluValCysGlySerTrpProGluGlyPheGlyLeuArgHisMetSerSerMetGluHisThrGluGluGlyLeuArgGluArgLeuAlaAspAlaMetAlaGluSerProSerArgAspValValGlySerGlyThrAspThrAlaLeuAspValAlaValLysThrPheProProGluArgHisValAlaValLysCysPheGluLeuGlnArgGluGlySerIleGluThrLeuSerAsnSerSerGlySerThrSerGlySerIleProArgAsnPheAspGlyTyrArgSerProLeuProThrAsnGluSerGlnProLeuSerLeuPheProThrGlyPheProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS575264" }, { "coordinates": [ { "allele": "T", "end": 2095, "referenceAllele": "C", "start": 2094 } ], "gene": "http://reg.genome.network/gene/GN014347", "geneNCBI_id": 54828, "geneSymbol": "BCAS3", "hgvs": [ "XM_017024787.2:c.2041C>T" ], "proteinEffect": { "hgvs": "XP_016880276.1:p.Arg681Ter", "hgvsWellDefined": "XP_016880276.1:p.Arg681_Pro1027delinsAlaSerTrpThrLeuValArgThrProGlnTrpAsnGluLeuGlnProProPheAsnAlaAsnHisProLeuLeuLeuAlaAlaAspAlaValGlnTyrTyrGlnPheLeuLeuAlaGlyLeuValProProGlySerProGlyProIleThrArgHisGlySerTyrAspSerLeuAlaSerAspHisSerGlyGlnGluAspGluGluTrpLeuSerGlnValGluIleValThrHisThrGlyProHisArgArgLeuTrpMetGlyProGlnPheGlnPheLysThrIleHisProSerGlyGlnThrThrValIleSerSerSerSerSerValLeuGlnSerHisGlyProSerAspThrProGlnProLeuLeuAspPheAspThrAspAspLeuAspLeuAsnSerLeuArgIleGlnProValArgSerAspProValSerMetProGlySerSerArgProValSerAspArgArgGlyValSerThrValIleAspAlaAlaSerValAspSerSerThrAlaLeuGluTrpGlyThrSerArgProSerHisSerArgSerAlaHisHisProSerValGlnGlyAlaArgSerSerAlaHisLeuLysProGlnGlyLeuMetGluThrIleHisSerHisSerSerThrPheAspArgSerValThrLeuLeuGluValCysGlySerTrpProGluGlyPheGlyLeuArgHisMetSerSerMetGluHisThrGluGluGlyLeuArgGluArgLeuAlaAspAlaMetAlaGluSerProSerArgAspValValGlySerGlyThrAspThrAlaLeuAspValAlaValLysThrPheProProGluArgHisValAlaValLysCysPheGluLeuGlnArgGluGlySerIleGluThrLeuSerAsnSerSerGlySerThrSerGlySerIleProArgAsnPheAspGlyTyrArgSerProLeuProThrAsnGluSerGlnProLeuSerLeuPheProThrGlyPheProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS575265" }, { "coordinates": [ { "allele": "T", "end": 2095, "referenceAllele": "C", "start": 2094 } ], "gene": "http://reg.genome.network/gene/GN014347", "geneNCBI_id": 54828, "geneSymbol": "BCAS3", "hgvs": [ "XM_017024788.2:c.2041C>T" ], "proteinEffect": { "hgvs": "XP_016880277.1:p.Arg681Ter", "hgvsWellDefined": 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"NP_001317343.1:p.Arg636_Pro935delinsAlaSerTrpThrLeuValArgThrProGlnTrpAsnGluLeuGlnProProPheAsnAlaAsnHisProLeuLeuLeuAlaAlaAspAlaValGlnTyrTyrGlnPheLeuLeuAlaGlyLeuValProProGlySerProGlyProIleThrArgHisGlySerTyrAspSerLeuAlaSerAspHisSerGlyGlnGluAspGluGluTrpLeuSerGlnValGluIleValThrHisThrGlyProHisArgArgLeuTrpMetGlyProGlnPheGlnPheLysThrIleHisProSerGlyGlnThrThrValIleSerSerSerSerSerValLeuGlnSerHisGlyProSerAspThrProGlnProLeuLeuAspPheAspThrAspAspLeuAspLeuAsnSerLeuArgIleGlnProValArgSerAspProValSerMetProGlySerSerArgProValSerAspArgArgGlyValSerThrValIleAspAlaAlaSerGlyThrPheAspArgSerValThrLeuLeuGluValCysGlySerTrpProGluGlyPheGlyLeuArgHisMetSerSerMetGluHisThrGluGluGlyLeuArgGluArgLeuAlaAspAlaMetAlaGluSerProSerArgAspValValGlySerGlyThrAspThrAlaLeuAspValAlaValLysThrPheProProGluArgHisValAlaValLysCysPheGluLeuGlnArgGluGlySerIleGluThrLeuSerAsnSerSerGlySerThrSerGlySerIleProArgAsnPheAspGlyTyrArgSerProLeuProThrAsnGluSerGlnProLeuSerLeuPheProThrGlyPheProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS686928" }, { "@id": "http://reg.genome.network/allele/PA2573203346", "coordinates": [ { "allele": "T", "end": 2110, "referenceAllele": "C", "start": 2109 } ], "gene": "http://reg.genome.network/gene/GN014347", "geneNCBI_id": 54828, "geneSymbol": "BCAS3", "hgvs": [ "NM_001353144.2:c.2041C>T" ], "proteinEffect": { "hgvs": "NP_001340073.1:p.Arg681Ter", "hgvsWellDefined": "NP_001340073.1:p.Arg681_Pro958delinsAlaSerTrpThrLeuValArgThrProGlnTrpAsnGluLeuGlnProProPheAsnAlaAsnHisProLeuLeuLeuAlaAlaAspAlaValGlnTyrTyrGlnPheLeuLeuAlaGlyLeuValProProGlySerProGlyProIleThrArgHisGlySerTyrAspSerLeuAlaSerAspHisSerGlyGlnGluAspGluGluTrpLeuSerGlnValGluIleValThrHisThrGlyProHisArgArgLeuTrpMetGlyProGlnPheGlnPheLysThrIleHisProSerGlyGlnThrThrValIleSerSerSerSerSerValLeuGlnSerHisGlyProSerAspThrProGlnProLeuLeuAspPheAspThrAspAspLeuAspLeuAsnSerLeuArgIleGlnProValArgSerAspProValSerMetProGlySerSerArgProValSerAspArgArgGlyValSerThrValIleAspAlaAlaSerGlyThrPheAspArgSerValThrLeuLeuGluValCysGlySerTrpProGluGlyPheGlyLeuArgHisMetSerSerMetGluHisThrGluGluGlyLeuArgGluArgLeuAlaAspAlaMetAlaGluSerProSerArgAspValValGlySerGlyThrGluLeuGlnArgGluGlySerIleGluThrLeuSerAsnSerSerGlySerThrSerGlySerIleProArgAsnPheAspGlyTyrArgSerProLeuProThrAsnGluSerGlnProLeuSerLeuPheProThrGlyPheProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689604" }, { "@id": "http://reg.genome.network/allele/PA2827710243", "coordinates": [ { "allele": "T", "end": 2065, "referenceAllele": "C", "start": 2064 } ], "gene": "http://reg.genome.network/gene/GN014347", "geneNCBI_id": 54828, "geneSymbol": "BCAS3", "hgvs": [ "NM_001353145.2:c.1996C>T" ], "proteinEffect": { "hgvs": "NP_001340074.1:p.Arg666Ter", "hgvsWellDefined": "NP_001340074.1:p.Arg666_Pro943delinsAlaSerTrpThrLeuValArgThrProGlnTrpAsnGluLeuGlnProProPheAsnAlaAsnHisProLeuLeuLeuAlaAlaAspAlaValGlnTyrTyrGlnPheLeuLeuAlaGlyLeuValProProGlySerProGlyProIleThrArgHisGlySerTyrAspSerLeuAlaSerAspHisSerGlyGlnGluAspGluGluTrpLeuSerGlnValGluIleValThrHisThrGlyProHisArgArgLeuTrpMetGlyProGlnPheGlnPheLysThrIleHisProSerGlyGlnThrThrValIleSerSerSerSerSerValLeuGlnSerHisGlyProSerAspThrProGlnProLeuLeuAspPheAspThrAspAspLeuAspLeuAsnSerLeuArgIleGlnProValArgSerAspProValSerMetProGlySerSerArgProValSerAspArgArgGlyValSerThrValIleAspAlaAlaSerGlyThrPheAspArgSerValThrLeuLeuGluValCysGlySerTrpProGluGlyPheGlyLeuArgHisMetSerSerMetGluHisThrGluGluGlyLeuArgGluArgLeuAlaAspAlaMetAlaGluSerProSerArgAspValValGlySerGlyThrGluLeuGlnArgGluGlySerIleGluThrLeuSerAsnSerSerGlySerThrSerGlySerIleProArgAsnPheAspGlyTyrArgSerProLeuProThrAsnGluSerGlnProLeuSerLeuPheProThrGlyPheProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689605" }, { "@id": "http://reg.genome.network/allele/PA2827710320", "coordinates": [ { "allele": "T", "end": 2020, "referenceAllele": "C", "start": 2019 } ], "gene": "http://reg.genome.network/gene/GN014347", "geneNCBI_id": 54828, "geneSymbol": "BCAS3", "hgvs": [ "NM_001353146.2:c.1951C>T" ], "proteinEffect": { "hgvs": "NP_001340075.1:p.Arg651Ter", "hgvsWellDefined": "NP_001340075.1:p.Arg651_Glu921delinsAlaSerTrpThrLeuValArgThrProGlnTrpAsnGluLeuGlnProProPheAsnAlaAsnHisProLeuLeuLeuAlaAlaAspAlaValGlnTyrTyrGlnPheLeuLeuAlaGlyLeuValProProGlySerProGlyProIleThrArgHisGlySerTyrAspSerLeuAlaSerAspHisSerGlyGlnGluAspGluGluTrpLeuSerGlnValGluIleValThrHisThrGlyProHisArgArgLeuTrpMetGlyProGlnPheGlnPheLysThrIleHisProSerGlyGlnThrThrValIleSerSerSerSerSerValLeuGlnSerHisGlyProSerAspThrProGlnProLeuLeuAspPheAspThrAspAspLeuAspLeuAsnSerLeuArgIleGlnProValArgSerAspProValSerMetProGlySerSerArgProValSerAspArgArgGlyValSerThrValIleAspAlaAlaSerGlyThrPheAspArgSerValThrLeuLeuGluValCysGlySerTrpProGluGlyPheGlyLeuArgHisMetSerSerMetGluHisThrGluGluGlyLeuArgGluArgLeuAlaAspAlaMetAlaGluSerProSerArgAspValValGlySerGlyThrGlyLysLysLysGlyLysLysLysGlnCysGlnGlnProSerValArgGluGlnProAsnSerAsnLysAlaCysValArgAspGlyGlyArgThrSerAlaArgGlyLysHisArgAspSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689606" }, { "@id": "http://reg.genome.network/allele/PA2829870405", "coordinates": [ { "allele": "T", "end": 1975, "referenceAllele": "C", "start": 1974 } ], "gene": "http://reg.genome.network/gene/GN014347", "geneNCBI_id": 54828, "geneSymbol": "BCAS3", "hgvs": [ "NM_017679.5:c.1906C>T" ], "proteinEffect": { "hgvs": "NP_060149.3:p.Arg636Ter", "hgvsWellDefined": "NP_060149.3:p.Arg636_Pro913delinsAlaSerTrpThrLeuValArgThrProGlnTrpAsnGluLeuGlnProProPheAsnAlaAsnHisProLeuLeuLeuAlaAlaAspAlaValGlnTyrTyrGlnPheLeuLeuAlaGlyLeuValProProGlySerProGlyProIleThrArgHisGlySerTyrAspSerLeuAlaSerAspHisSerGlyGlnGluAspGluGluTrpLeuSerGlnValGluIleValThrHisThrGlyProHisArgArgLeuTrpMetGlyProGlnPheGlnPheLysThrIleHisProSerGlyGlnThrThrValIleSerSerSerSerSerValLeuGlnSerHisGlyProSerAspThrProGlnProLeuLeuAspPheAspThrAspAspLeuAspLeuAsnSerLeuArgIleGlnProValArgSerAspProValSerMetProGlySerSerArgProValSerAspArgArgGlyValSerThrValIleAspAlaAlaSerGlyThrPheAspArgSerValThrLeuLeuGluValCysGlySerTrpProGluGlyPheGlyLeuArgHisMetSerSerMetGluHisThrGluGluGlyLeuArgGluArgLeuAlaAspAlaMetAlaGluSerProSerArgAspValValGlySerGlyThrGluLeuGlnArgGluGlySerIleGluThrLeuSerAsnSerSerGlySerThrSerGlySerIleProArgAsnPheAspGlyTyrArgSerProLeuProThrAsnGluSerGlnProLeuSerLeuPheProThrGlyPheProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697849", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000407086.8:c.1906C>T" }, "RefSeq": { "hgvs": "NM_017679.5:c.1906C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000385323.2:p.Arg636Ter" }, "RefSeq": { "hgvs": "NP_060149.3:p.Arg636Ter" } } } } ], "type": "nucleotide" }