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64240, "geneSymbol": "ABCG5", "hgvs": [ "XM_011533026.2:c.952C>T" ], "proteinEffect": { "hgvs": "XP_011531328.1:p.Arg318Ter", "hgvsWellDefined": "XP_011531328.1:p.Arg318_Arg561delinsSerAsnValLeuLysGlyAlaIleGlnAspArgValGlyLeuLeuTyrGlnPheValGlyAlaThrProTyrThrGlyMetLeuAsnAlaValAsnLeuPheProValLeuArgAlaValSerAspGlnGluSerGlnAspGlyLeuTyrGlnLysTrpGlnMetMetLeuAlaTyrAlaLeuHisValLeuProPheSerValValAlaThrMetIlePheSerSerValCysTyrTrpThrLeuGlyLeuHisProGluValAlaArgPheGlyTyrPheSerAlaAlaLeuLeuAlaProHisLeuIleGlyGluPheLeuThrLeuValLeuLeuGlyIleValGlnAsnProAsnIleValAsnSerValValAlaLeuLeuSerIleAlaGlyValLeuValGlySerGlyPheLeuArgAsnIleGlnGluMetProIleProPheLysIleIleSerTyrPheThrPheGlnLysTyrCysSerGluIleLeuValValAsnGluPheTyrGlyLeuAsnPheThrCysGlySerSerAsnValSerValThrThrAsnProMetCysAlaPheThrGlnGlyIleGlnPheIleGluLysThrCysProGlyAlaThrSerArgPheThrMetAsnPheLeuIleLeuTyrSerPheIleProAlaLeuValIleLeuGlyIleValValPheLysIleArgAspHisLeuIleSerArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS551080" }, { "coordinates": [ { "allele": "T", "end": 1728, "referenceAllele": "C", "start": 1727 } ], "gene": "http://reg.genome.network/gene/GN013886", "geneNCBI_id": 64240, "geneSymbol": "ABCG5", "hgvs": [ "XM_011533027.3:c.709C>T" ], "proteinEffect": { "hgvs": "XP_011531329.1:p.Arg237Ter", "hgvsWellDefined": "XP_011531329.1:p.Arg237_Arg480delinsSerAsnValLeuLysGlyAlaIleGlnAspArgValGlyLeuLeuTyrGlnPheValGlyAlaThrProTyrThrGlyMetLeuAsnAlaValAsnLeuPheProValLeuArgAlaValSerAspGlnGluSerGlnAspGlyLeuTyrGlnLysTrpGlnMetMetLeuAlaTyrAlaLeuHisValLeuProPheSerValValAlaThrMetIlePheSerSerValCysTyrTrpThrLeuGlyLeuHisProGluValAlaArgPheGlyTyrPheSerAlaAlaLeuLeuAlaProHisLeuIleGlyGluPheLeuThrLeuValLeuLeuGlyIleValGlnAsnProAsnIleValAsnSerValValAlaLeuLeuSerIleAlaGlyValLeuValGlySerGlyPheLeuArgAsnIleGlnGluMetProIleProPheLysIleIleSerTyrPheThrPheGlnLysTyrCysSerGluIleLeuValValAsnGluPheTyrGlyLeuAsnPheThrCysGlySerSerAsnValSerValThrThrAsnProMetCysAlaPheThrGlnGlyIleGlnPheIleGluLysThrCysProGlyAlaThrSerArgPheThrMetAsnPheLeuIleLeuTyrSerPheIleProAlaLeuValIleLeuGlyIleValValPheLysIleArgAspHisLeuIleSerArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS551081" }, { "coordinates": [ { "allele": "T", "end": 537, "referenceAllele": "C", "start": 536 } ], "gene": "http://reg.genome.network/gene/GN013886", "geneNCBI_id": 64240, "geneSymbol": "ABCG5", "hgvs": [ "XM_011533028.2:c.385C>T" ], "proteinEffect": { "hgvs": "XP_011531330.1:p.Arg129Ter", "hgvsWellDefined": "XP_011531330.1:p.Arg129_Arg372delinsSerAsnValLeuLysGlyAlaIleGlnAspArgValGlyLeuLeuTyrGlnPheValGlyAlaThrProTyrThrGlyMetLeuAsnAlaValAsnLeuPheProValLeuArgAlaValSerAspGlnGluSerGlnAspGlyLeuTyrGlnLysTrpGlnMetMetLeuAlaTyrAlaLeuHisValLeuProPheSerValValAlaThrMetIlePheSerSerValCysTyrTrpThrLeuGlyLeuHisProGluValAlaArgPheGlyTyrPheSerAlaAlaLeuLeuAlaProHisLeuIleGlyGluPheLeuThrLeuValLeuLeuGlyIleValGlnAsnProAsnIleValAsnSerValValAlaLeuLeuSerIleAlaGlyValLeuValGlySerGlyPheLeuArgAsnIleGlnGluMetProIleProPheLysIleIleSerTyrPheThrPheGlnLysTyrCysSerGluIleLeuValValAsnGluPheTyrGlyLeuAsnPheThrCysGlySerSerAsnValSerValThrThrAsnProMetCysAlaPheThrGlnGlyIleGlnPheIleGluLysThrCysProGlyAlaThrSerArgPheThrMetAsnPheLeuIleLeuTyrSerPheIleProAlaLeuValIleLeuGlyIleValValPheLysIleArgAspHisLeuIleSerArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS551082" }, { "@id": "http://reg.genome.network/allele/PA253371", "coordinates": [ { "allele": "T", "end": 1382, "referenceAllele": "C", "start": 1381 } ], "gene": "http://reg.genome.network/gene/GN013886", "geneNCBI_id": 64240, "geneSymbol": "ABCG5", "hgvs": [ "NM_022436.3:c.1222C>T" ], "proteinEffect": { "hgvs": "NP_071881.1:p.Arg408Ter", "hgvsWellDefined": 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"NM_022436.3:c.1222C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000384513.2:p.Arg408Ter" }, "RefSeq": { "hgvs": "NP_071881.1:p.Arg408Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1237, "endIntronDirection": "-", "endIntronOffset": 3370, "referenceAllele": "G", "start": 1237, "startIntronDirection": "-", "startIntronOffset": 3371 } ], "gene": "http://reg.genome.network/gene/GN024595", "geneNCBI_id": 51626, "geneSymbol": "DYNC2LI1", "hgvs": [ "NM_001348912.2:c.*16-3371G>A" ], "proteinEffect": { "hgvs": "NP_001335841.1:n.*16-3371G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS719198" }, { "coordinates": [ { "allele": "A", "end": 1240, "endIntronDirection": "-", "endIntronOffset": 3370, "referenceAllele": "G", "start": 1240, "startIntronDirection": "-", "startIntronOffset": 3371 } ], "gene": "http://reg.genome.network/gene/GN024595", "geneNCBI_id": 51626, "geneSymbol": "DYNC2LI1", "hgvs": [ "NM_001348913.2:c.*16-3371G>A" ], "proteinEffect": { "hgvs": "NP_001335842.1:n.*16-3371G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS719199" } ], "type": "nucleotide" }