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}, "referenceSequence": "http://reg.genome.network/refseq/RS089994" }, { "coordinates": [ { "allele": "A", "end": 972, "referenceAllele": "C", "start": 971 } ], "gene": "http://reg.genome.network/gene/GN030539", "geneNCBI_id": 123872, "geneSymbol": "DNAAF1", "hgvs": [ "XM_011522853.1:c.792C>A" ], "proteinEffect": { "hgvs": "XP_011521155.1:p.Tyr264Ter", "hgvsWellDefined": "XP_011521155.1:p.Tyr264_Ser772delinsArgArgThrValThrValArgLeuLysHisLeuThrTyrLeuAspAspArgProValPheProLysAspArgAlaCysAlaGluAlaTrpAlaArgGlyGlyTyrAlaAlaGluLysGluGluArgGlnGlnTrpGluSerArgGluArgLysLysIleThrAspSerIleGluAlaLeuAlaMetIleLysGlnArgAlaGluGluArgLysArgGlnArgGluSerGlnGluArgGlyMetArgSerAlaGluAspAsnSerProArgValProLeuArgLeuGlyGluMetThrSerSerAspAspGlyGluAsnValProAlaSerAlaGluGlyLysGluGluProProGlyAspArgGluThrArgGlnLysMetGluLeuPheValLysGluSerPheGluAlaLysAspGluLeuCysProGluLysProSerGlyGluGluProProValGluAlaLysArgGluAspGlyGlyProGluProGluGlyThrLeuProAlaGluThrLeuLeuLeuSerSerProValGluValLysGlyGluAspGlyAspGlyGluProGluGlyThrLeuProAlaGluAlaProProProProProProValGluValLysGlyGluAspGlyAspGlnGluProGluGlyThrLeuProAlaGluThrLeuLeuLeuSerProProValLysValLysGlyGluAspGlyAspArgGluProGluGlyThrLeuProAlaGluAlaProProProProProLeuGlyAlaAlaArgGluGluProThrProGlnAlaValAlaThrGluGlyValPheValThrGluLeuAspGlyThrArgThrGluAspLeuGluThrIleArgLeuGluThrLysGluThrPheCysIleAspAspLeuProAspLeuGluAspAspAspGluThrGlyLysSerLeuGluAspGlnAsnMetCysPheProLysIleGluValIleSerSerLeuSerAspAspSerAspProGluLeuAspTyrThrSerLeuProValLeuGluAsnLeuProThrAspThrLeuSerAsnIlePheAlaValSerLysAspThrSerLysAlaAlaArgValProPheThrAspIlePheLysLysGluAlaLysArgAspLeuGluIleArgLysGlnAspThrLysSerProArgProLeuIleGlnGluLeuSerAspGluAspProSerGlyGlnLeuLeuMetProProThrCysGlnArgAspAlaAlaProLeuThrSerSerGlyAspArgAspSerAspPheLeuAlaAlaSerSerProGluMetGlyPheHisHisValAspGlnAlaGlyLeuGluLeuLeuThrSerGlyAspLeuPheAlaSerAlaSerGlnSerAlaGlyIleThrValProThrGluSerAlaAlaThrProProGluThrCysValGlyValAlaGlnProSerGlnAlaLeuProThrTrpAspLeuThrAlaPheProAlaProLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089995" }, { "coordinates": [ { "allele": "A", "end": 972, "referenceAllele": "C", "start": 971 } ], "gene": "http://reg.genome.network/gene/GN030539", "geneNCBI_id": 123872, "geneSymbol": "DNAAF1", "hgvs": [ "XM_011522854.1:c.792C>A" ], "proteinEffect": { "hgvs": "XP_011521156.1:p.Tyr264Ter", "hgvsWellDefined": "XP_011521156.1:p.Tyr264_Ser743delinsArgArgThrValThrValArgLeuLysHisLeuThrTyrLeuAspAspArgProValPheProLysAspArgAlaCysAlaGluAlaTrpAlaArgGlyGlyTyrAlaAlaGluLysGluGluArgGlnGlnTrpGluSerArgGluArgLysLysIleThrAspSerIleGluAlaLeuAlaMetIleLysGlnArgAlaGluGluArgLysArgGlnArgGluSerGlnGluArgGlyMetArgSerAlaGluAspAsnSerProArgValProLeuArgLeuGlyGluMetThrSerSerAspAspGlyGluAsnValProAlaSerAlaGluGlyLysGluGluProProGlyAspArgGluThrArgGlnLysMetGluLeuPheValLysGluSerPheGluAlaLysAspGluLeuCysProGluLysProSerGlyGluGluProProValGluAlaLysArgGluAspGlyGlyProGluProGluGlyThrLeuProAlaGluThrLeuLeuLeuSerSerProValGluValLysGlyGluAspGlyAspGlyGluProGluGlyThrLeuProAlaGluAlaProProProProProProValGluValLysGlyGluAspGlyAspGlnGluProGluGlyThrLeuProAlaGluThrLeuLeuLeuSerProProValLysValLysGlyGluAspGlyAspArgGluProGluGlyThrLeuProAlaGluAlaProProProProProLeuGlyAlaAlaArgGluGluProThrProGlnAlaValAlaThrGluGlyValPheValThrGluLeuAspGlyThrArgThrGluAspLeuGluThrIleArgLeuGluThrLysGluThrPheCysIleAspAspLeuProAspLeuGluAspAspAspGluThrGlyLysSerLeuGluAspGlnValLysAsnMetCysPheProLysIleGluValIleSerSerLeuSerAspAspSerAspProGluLeuAspTyrThrSerLeuProValLeuGluAsnLeuProThrAspThrLeuSerAsnIlePheAlaValSerLysAspThrSerLysAlaAlaArgValProPheThrAspIlePheLysLysGluAlaLysArgAspLeuGluIleArgLysGlnAspThrLysSerProArgProLeuIleGlnGluLeuSerAspGluAspProSerGlyGlnLeuLeuMetProProThrCysGlnArgAspAlaAlaProLeuThrSerSerGlyAspArgAspSerAspPheLeuAlaAlaSerSerProValProThrGluSerAlaAlaThrProProGluThrCysValGlyValAlaGlnProSerGlnAlaLeuProThrTrpAspLeuThrAlaPheProAlaProLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089996" }, { "coordinates": [ { "allele": "A", "end": 972, "referenceAllele": "C", "start": 971 } ], "gene": "http://reg.genome.network/gene/GN030539", "geneNCBI_id": 123872, "geneSymbol": "DNAAF1", "hgvs": [ "XM_011522855.1:c.792C>A" ], "proteinEffect": { "hgvs": "XP_011521157.1:p.Tyr264Ter", "hgvsWellDefined": "XP_011521157.1:p.Tyr264_Ser741delinsArgArgThrValThrValArgLeuLysHisLeuThrTyrLeuAspAspArgProValPheProLysAspArgAlaCysAlaGluAlaTrpAlaArgGlyGlyTyrAlaAlaGluLysGluGluArgGlnGlnTrpGluSerArgGluArgLysLysIleThrAspSerIleGluAlaLeuAlaMetIleLysGlnArgAlaGluGluArgLysArgGlnArgGluSerGlnGluArgGlyMetArgSerAlaGluAspAsnSerProArgValProLeuArgLeuGlyGluMetThrSerSerAspAspGlyGluAsnValProAlaSerAlaGluGlyLysGluGluProProGlyAspArgGluThrArgGlnLysMetGluLeuPheValLysGluSerPheGluAlaLysAspGluLeuCysProGluLysProSerGlyGluGluProProValGluAlaLysArgGluAspGlyGlyProGluProGluGlyThrLeuProAlaGluThrLeuLeuLeuSerSerProValGluValLysGlyGluAspGlyAspGlyGluProGluGlyThrLeuProAlaGluAlaProProProProProProValGluValLysGlyGluAspGlyAspGlnGluProGluGlyThrLeuProAlaGluThrLeuLeuLeuSerProProValLysValLysGlyGluAspGlyAspArgGluProGluGlyThrLeuProAlaGluAlaProProProProProLeuGlyAlaAlaArgGluGluProThrProGlnAlaValAlaThrGluGlyValPheValThrGluLeuAspGlyThrArgThrGluAspLeuGluThrIleArgLeuGluThrLysGluThrPheCysIleAspAspLeuProAspLeuGluAspAspAspGluThrGlyLysSerLeuGluAspGlnAsnMetCysPheProLysIleGluValIleSerSerLeuSerAspAspSerAspProGluLeuAspTyrThrSerLeuProValLeuGluAsnLeuProThrAspThrLeuSerAsnIlePheAlaValSerLysAspThrSerLysAlaAlaArgValProPheThrAspIlePheLysLysGluAlaLysArgAspLeuGluIleArgLysGlnAspThrLysSerProArgProLeuIleGlnGluLeuSerAspGluAspProSerGlyGlnLeuLeuMetProProThrCysGlnArgAspAlaAlaProLeuThrSerSerGlyAspArgAspSerAspPheLeuAlaAlaSerSerProValProThrGluSerAlaAlaThrProProGluThrCysValGlyValAlaGlnProSerGlnAlaLeuProThrTrpAspLeuThrAlaPheProAlaProLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089997" }, { "coordinates": [ { "allele": "A", "end": 1279, "referenceAllele": "C", "start": 1278 } ], "gene": "http://reg.genome.network/gene/GN030539", "geneNCBI_id": 123872, "geneSymbol": "DNAAF1", "hgvs": [ "XM_011522856.1:c.531C>A" ], "proteinEffect": { "hgvs": "XP_011521158.1:p.Tyr177Ter", "hgvsWellDefined": "XP_011521158.1:p.Tyr177_Ser732delinsArgArgThrValThrValArgLeuLysHisLeuThrTyrLeuAspAspArgProValPheProLysAspArgAlaCysAlaGluAlaTrpAlaArgGlyGlyTyrAlaAlaGluLysGluGluArgGlnGlnTrpGluSerArgGluArgLysLysIleThrAspSerIleGluAlaLeuAlaMetIleLysGlnArgAlaGluGluArgLysArgGlnArgGluSerGlnGluArgGlyMetArgSerAlaGluAspAsnSerProArgValProLeuArgLeuGlyGluMetThrSerSerAspAspGlyGluAsnValProAlaSerAlaGluGlyLysGluGluProProGlyAspArgGluThrArgGlnLysMetGluLeuPheValLysGluSerPheGluAlaLysAspGluLeuCysProGluLysProSerGlyGluGluProProValGluAlaLysArgGluAspGlyGlyProGluProGluGlyThrLeuProAlaGluThrLeuLeuLeuSerSerProValGluValLysGlyGluAspGlyAspGlyGluProGluGlyThrLeuProAlaGluAlaProProProProProProValGluValLysGlyGluAspGlyAspGlnGluProGluGlyThrLeuProAlaGluThrLeuLeuLeuSerProProValLysValLysGlyGluAspGlyAspArgGluProGluGlyThrLeuProAlaGluAlaProProProProProLeuGlyAlaAlaArgGluGluProThrProGlnAlaValAlaThrGluGlyValPheValThrGluLeuAspGlyThrArgThrGluAspLeuGluThrIleArgLeuGluThrLysGluThrPheCysIleAspAspLeuProAspLeuGluAspAspAspGluThrGlyLysSerLeuGluAspGlnValLysArgProLeuLeuAlaLeuProGlyAlaHisThrCysGlnThrArgThrLeuArgGluLysGluAlaSerAlaIleIleSerGluHisGluLeuSerSerLysGluAsnArgHisSerTyrCysGlyGlyProAlaValGlnGlyAlaLysSerGlnArgValCysGluGlyAsnGlyValGlnGlyHisAlaLysGlnSerProGlyLeuArgGlyAlaProSerGlnAsnMetCysPheProLysIleGluValIleSerSerLeuSerAspAspSerAspProGluLeuAspTyrThrSerLeuProValLeuGluAsnLeuProThrAspThrLeuSerAsnIlePheAlaValSerLysAspThrSerLysAlaAlaArgValProPheThrAspIlePheLysLysGluAlaLysArgAspLeuGluIleArgLysGlnAspThrLysSerProArgProLeuIleGlnGluLeuSerAspGluAspProSerGlyGlnLeuLeuMetProProThrCysGlnArgAspAlaAlaProLeuThrSerSerGlyAspArgAspSerAspPheLeuAlaAlaSerSerProValProThrGluSerAlaAlaThrProProGluThrCysValGlyValAlaGlnProSerGlnAlaLeuProThrTrpAspLeuThrAlaPheProAlaProLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089998" }, { "coordinates": [ { "allele": "A", "end": 972, "referenceAllele": "C", "start": 971 } ], "gene": "http://reg.genome.network/gene/GN030539", "geneNCBI_id": 123872, "geneSymbol": "DNAAF1", "hgvs": [ "XM_011522857.1:c.792C>A" ], "proteinEffect": { "hgvs": "XP_011521159.1:p.Tyr264Ter", "hgvsWellDefined": "XP_011521159.1:p.Tyr264_Leu643delinsArgArgThrValThrValArgLeuLysHisLeuThrTyrLeuAspAspArgProValPheProLysAspArgAlaCysAlaGluAlaTrpAlaArgGlyGlyTyrAlaAlaGluLysGluGluArgGlnGlnTrpGluSerArgGluArgLysLysIleThrAspSerIleGluAlaLeuAlaMetIleLysGlnArgAlaGluGluArgLysArgGlnArgGluSerGlnGluArgGlyMetArgSerAlaGluAspAsnSerProArgValProLeuArgLeuGlyGluMetThrSerSerAspAspGlyGluAsnValProAlaSerAlaGluGlyLysGluGluProProGlyAspArgGluThrArgGlnLysMetGluLeuPheValLysGluSerPheGluAlaLysAspGluLeuCysProGluLysProSerGlyGluGluProProValGluAlaLysArgGluAspGlyGlyProGluProGluGlyThrLeuProAlaGluThrLeuLeuLeuSerSerProValGluValLysGlyGluAspGlyAspGlyGluProGluGlyThrLeuProAlaGluAlaProProProProProProValGluValLysGlyGluAspGlyAspGlnGluProGluGlyThrLeuProAlaGluThrLeuLeuLeuSerProProValLysValLysGlyGluAspGlyAspArgGluProGluGlyThrLeuProAlaGluAlaProProProProProLeuGlyAlaAlaArgGluGluProThrProGlnAlaValAlaThrGluGlyValPheValThrGluLeuAspGlyThrArgThrGluAspLeuGluThrIleArgLeuGluThrLysGluThrPheCysIleAspAspLeuProAspLeuGluAspAspAspGluThrGlyLysSerLeuGluAspGlnValLysGlyLysGluMetLysThrGlyGluGlyLysGluArgGlyGluSerValArgHisAsnGlyGluPheSerGlnSerAspValThrLeuLeuHisProGluAlaIleThrGlyIleThrArgSerProHisValProAspProTyrProGluGlyGluGlyGlyIleSerHisHisLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089999" }, { "coordinates": [ { "allele": "A", "end": 972, "referenceAllele": "C", "start": 971 } ], "gene": "http://reg.genome.network/gene/GN030539", "geneNCBI_id": 123872, "geneSymbol": "DNAAF1", "hgvs": [ "XM_011522858.1:c.792C>A" ], "proteinEffect": { "hgvs": "XP_011521160.1:p.Tyr264Ter", "hgvsWellDefined": "XP_011521160.1:p.Tyr264_Leu641delinsArgArgThrValThrValArgLeuLysHisLeuThrTyrLeuAspAspArgProValPheProLysAspArgAlaCysAlaGluAlaTrpAlaArgGlyGlyTyrAlaAlaGluLysGluGluArgGlnGlnTrpGluSerArgGluArgLysLysIleThrAspSerIleGluAlaLeuAlaMetIleLysGlnArgAlaGluGluArgLysArgGlnArgGluSerGlnGluArgGlyMetArgSerAlaGluAspAsnSerProArgValProLeuArgLeuGlyGluMetThrSerSerAspAspGlyGluAsnValProAlaSerAlaGluGlyLysGluGluProProGlyAspArgGluThrArgGlnLysMetGluLeuPheValLysGluSerPheGluAlaLysAspGluLeuCysProGluLysProSerGlyGluGluProProValGluAlaLysArgGluAspGlyGlyProGluProGluGlyThrLeuProAlaGluThrLeuLeuLeuSerSerProValGluValLysGlyGluAspGlyAspGlyGluProGluGlyThrLeuProAlaGluAlaProProProProProProValGluValLysGlyGluAspGlyAspGlnGluProGluGlyThrLeuProAlaGluThrLeuLeuLeuSerProProValLysValLysGlyGluAspGlyAspArgGluProGluGlyThrLeuProAlaGluAlaProProProProProLeuGlyAlaAlaArgGluGluProThrProGlnAlaValAlaThrGluGlyValPheValThrGluLeuAspGlyThrArgThrGluAspLeuGluThrIleArgLeuGluThrLysGluThrPheCysIleAspAspLeuProAspLeuGluAspAspAspGluThrGlyLysSerLeuGluAspGlnGlyLysGluMetLysThrGlyGluGlyLysGluArgGlyGluSerValArgHisAsnGlyGluPheSerGlnSerAspValThrLeuLeuHisProGluAlaIleThrGlyIleThrArgSerProHisValProAspProTyrProGluGlyGluGlyGlyIleSerHisHisLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090000" }, { "coordinates": [ { "allele": "A", "end": 421, "referenceAllele": "C", "start": 420 } ], "gene": "http://reg.genome.network/gene/GN030539", "geneNCBI_id": 123872, "geneSymbol": "DNAAF1", "hgvs": [ "XM_011522859.1:c.36C>A" ], "proteinEffect": { "hgvs": "XP_011521161.1:p.Tyr12Ter", "hgvsWellDefined": "XP_011521161.1:p.Tyr12_Ser567delinsArgArgThrValThrValArgLeuLysHisLeuThrTyrLeuAspAspArgProValPheProLysAspArgAlaCysAlaGluAlaTrpAlaArgGlyGlyTyrAlaAlaGluLysGluGluArgGlnGlnTrpGluSerArgGluArgLysLysIleThrAspSerIleGluAlaLeuAlaMetIleLysGlnArgAlaGluGluArgLysArgGlnArgGluSerGlnGluArgGlyMetArgSerAlaGluAspAsnSerProArgValProLeuArgLeuGlyGluMetThrSerSerAspAspGlyGluAsnValProAlaSerAlaGluGlyLysGluGluProProGlyAspArgGluThrArgGlnLysMetGluLeuPheValLysGluSerPheGluAlaLysAspGluLeuCysProGluLysProSerGlyGluGluProProValGluAlaLysArgGluAspGlyGlyProGluProGluGlyThrLeuProAlaGluThrLeuLeuLeuSerSerProValGluValLysGlyGluAspGlyAspGlyGluProGluGlyThrLeuProAlaGluAlaProProProProProProValGluValLysGlyGluAspGlyAspGlnGluProGluGlyThrLeuProAlaGluThrLeuLeuLeuSerProProValLysValLysGlyGluAspGlyAspArgGluProGluGlyThrLeuProAlaGluAlaProProProProProLeuGlyAlaAlaArgGluGluProThrProGlnAlaValAlaThrGluGlyValPheValThrGluLeuAspGlyThrArgThrGluAspLeuGluThrIleArgLeuGluThrLysGluThrPheCysIleAspAspLeuProAspLeuGluAspAspAspGluThrGlyLysSerLeuGluAspGlnValLysArgProLeuLeuAlaLeuProGlyAlaHisThrCysGlnThrArgThrLeuArgGluLysGluAlaSerAlaIleIleSerGluHisGluLeuSerSerLysGluAsnArgHisSerTyrCysGlyGlyProAlaValGlnGlyAlaLysSerGlnArgValCysGluGlyAsnGlyValGlnGlyHisAlaLysGlnSerProGlyLeuArgGlyAlaProSerGlnAsnMetCysPheProLysIleGluValIleSerSerLeuSerAspAspSerAspProGluLeuAspTyrThrSerLeuProValLeuGluAsnLeuProThrAspThrLeuSerAsnIlePheAlaValSerLysAspThrSerLysAlaAlaArgValProPheThrAspIlePheLysLysGluAlaLysArgAspLeuGluIleArgLysGlnAspThrLysSerProArgProLeuIleGlnGluLeuSerAspGluAspProSerGlyGlnLeuLeuMetProProThrCysGlnArgAspAlaAlaProLeuThrSerSerGlyAspArgAspSerAspPheLeuAlaAlaSerSerProValProThrGluSerAlaAlaThrProProGluThrCysValGlyValAlaGlnProSerGlnAlaLeuProThrTrpAspLeuThrAlaPheProAlaProLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090001" }, { "coordinates": [ { "allele": "A", "end": 421, "referenceAllele": "C", "start": 420 } ], "gene": "http://reg.genome.network/gene/GN030539", "geneNCBI_id": 123872, "geneSymbol": "DNAAF1", "hgvs": [ "XM_011522860.1:c.36C>A" ], "proteinEffect": { "hgvs": "XP_011521162.1:p.Tyr12Ter", "hgvsWellDefined": "XP_011521162.1:p.Tyr12_Ser489delinsArgArgThrValThrValArgLeuLysHisLeuThrTyrLeuAspAspArgProValPheProLysAspArgAlaCysAlaGluAlaTrpAlaArgGlyGlyTyrAlaAlaGluLysGluGluArgGlnGlnTrpGluSerArgGluArgLysLysIleThrAspSerIleGluAlaLeuAlaMetIleLysGlnArgAlaGluGluArgLysArgGlnArgGluSerGlnGluArgGlyMetArgSerAlaGluAspAsnSerProArgValProLeuArgLeuGlyGluMetThrSerSerAspAspGlyGluAsnValProAlaSerAlaGluGlyLysGluGluProProGlyAspArgGluThrArgGlnLysMetGluLeuPheValLysGluSerPheGluAlaLysAspGluLeuCysProGluLysProSerGlyGluGluProProValGluAlaLysArgGluAspGlyGlyProGluProGluGlyThrLeuProAlaGluThrLeuLeuLeuSerSerProValGluValLysGlyGluAspGlyAspGlyGluProGluGlyThrLeuProAlaGluAlaProProProProProProValGluValLysGlyGluAspGlyAspGlnGluProGluGlyThrLeuProAlaGluThrLeuLeuLeuSerProProValLysValLysGlyGluAspGlyAspArgGluProGluGlyThrLeuProAlaGluAlaProProProProProLeuGlyAlaAlaArgGluGluProThrProGlnAlaValAlaThrGluGlyValPheValThrGluLeuAspGlyThrArgThrGluAspLeuGluThrIleArgLeuGluThrLysGluThrPheCysIleAspAspLeuProAspLeuGluAspAspAspGluThrGlyLysSerLeuGluAspGlnAsnMetCysPheProLysIleGluValIleSerSerLeuSerAspAspSerAspProGluLeuAspTyrThrSerLeuProValLeuGluAsnLeuProThrAspThrLeuSerAsnIlePheAlaValSerLysAspThrSerLysAlaAlaArgValProPheThrAspIlePheLysLysGluAlaLysArgAspLeuGluIleArgLysGlnAspThrLysSerProArgProLeuIleGlnGluLeuSerAspGluAspProSerGlyGlnLeuLeuMetProProThrCysGlnArgAspAlaAlaProLeuThrSerSerGlyAspArgAspSerAspPheLeuAlaAlaSerSerProValProThrGluSerAlaAlaThrProProGluThrCysValGlyValAlaGlnProSerGlnAlaLeuProThrTrpAspLeuThrAlaPheProAlaProLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090002" }, { "@id": "http://reg.genome.network/allele/PA2826997158", "coordinates": [ { "allele": "A", "end": 223, "referenceAllele": "C", "start": 222 } ], "gene": "http://reg.genome.network/gene/GN030539", "geneNCBI_id": 123872, "geneSymbol": "DNAAF1", "hgvs": [ "NM_001318756.1:c.36C>A" ], "proteinEffect": { "hgvs": "NP_001305685.1:p.Tyr12Ter", "hgvsWellDefined": "NP_001305685.1:p.Tyr12_Ser489delinsArgArgThrValThrValArgLeuLysHisLeuThrTyrLeuAspAspArgProValPheProLysAspArgAlaCysAlaGluAlaTrpAlaArgGlyGlyTyrAlaAlaGluLysGluGluArgGlnGlnTrpGluSerArgGluArgLysLysIleThrAspSerIleGluAlaLeuAlaMetIleLysGlnArgAlaGluGluArgLysArgGlnArgGluSerGlnGluArgGlyMetArgSerAlaGluAspAsnSerProArgValProLeuArgLeuGlyGluMetThrSerSerAspAspGlyGluAsnValProAlaSerAlaGluGlyLysGluGluProProGlyAspArgGluThrArgGlnLysMetGluLeuPheValLysGluSerPheGluAlaLysAspGluLeuCysProGluLysProSerGlyGluGluProProValGluAlaLysArgGluAspGlyGlyProGluProGluGlyThrLeuProAlaGluThrLeuLeuLeuSerSerProValGluValLysGlyGluAspGlyAspGlyGluProGluGlyThrLeuProAlaGluAlaProProProProProProValGluValLysGlyGluAspGlyAspGlnGluProGluGlyThrLeuProAlaGluThrLeuLeuLeuSerProProValLysValLysGlyGluAspGlyAspArgGluProGluGlyThrLeuProAlaGluAlaProProProProProLeuGlyAlaAlaArgGluGluProThrProGlnAlaValAlaThrGluGlyValPheValThrGluLeuAspGlyThrArgThrGluAspLeuGluThrIleArgLeuGluThrLysGluThrPheCysIleAspAspLeuProAspLeuGluAspAspAspGluThrGlyLysSerLeuGluAspGlnAsnMetCysPheProLysIleGluValIleSerSerLeuSerAspAspSerAspProGluLeuAspTyrThrSerLeuProValLeuGluAsnLeuProThrAspThrLeuSerAsnIlePheAlaValSerLysAspThrSerLysAlaAlaArgValProPheThrAspIlePheLysLysGluAlaLysArgAspLeuGluIleArgLysGlnAspThrLysSerProArgProLeuIleGlnGluLeuSerAspGluAspProSerGlyGlnLeuLeuMetProProThrCysGlnArgAspAlaAlaProLeuThrSerSerGlyAspArgAspSerAspPheLeuAlaAlaSerSerProValProThrGluSerAlaAlaThrProProGluThrCysValGlyValAlaGlnProSerGlnAlaLeuProThrTrpAspLeuThrAlaPheProAlaProLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS512999" }, { "@id": "http://reg.genome.network/allele/PA251403", "coordinates": [ { "allele": "A", "end": 973, "referenceAllele": "C", "start": 972 } ], "gene": "http://reg.genome.network/gene/GN030539", "geneNCBI_id": 123872, "geneSymbol": "DNAAF1", "hgvs": [ "NM_178452.5:c.792C>A" ], "proteinEffect": { "hgvs": "NP_848547.4:p.Tyr264Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS526835" }, { "coordinates": [ { "allele": "A", "end": 966, "referenceAllele": "C", "start": 965 } ], "gene": "http://reg.genome.network/gene/GN030539", "geneNCBI_id": 123872, "geneSymbol": "DNAAF1", "hgvs": [ "XM_006721129.3:c.792C>A" ], "proteinEffect": { "hgvs": "XP_006721192.1:p.Tyr264Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS540240" }, { "coordinates": [ { "allele": "A", "end": 966, "referenceAllele": "C", "start": 965 } ], "gene": "http://reg.genome.network/gene/GN030539", "geneNCBI_id": 123872, "geneSymbol": "DNAAF1", "hgvs": [ "XM_011522853.3:c.792C>A" ], "proteinEffect": { "hgvs": "XP_011521155.1:p.Tyr264Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS546784" }, { "coordinates": [ { "allele": "A", "end": 966, "referenceAllele": "C", "start": 965 } ], "gene": "http://reg.genome.network/gene/GN030539", "geneNCBI_id": 123872, "geneSymbol": "DNAAF1", "hgvs": [ "XM_011522854.3:c.792C>A" ], "proteinEffect": { "hgvs": "XP_011521156.1:p.Tyr264Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS546785" }, { "coordinates": [ { "allele": "A", "end": 966, "referenceAllele": "C", "start": 965 } ], "gene": "http://reg.genome.network/gene/GN030539", "geneNCBI_id": 123872, "geneSymbol": "DNAAF1", "hgvs": [ "XM_011522855.3:c.792C>A" ], "proteinEffect": { "hgvs": "XP_011521157.1:p.Tyr264Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS546786" }, { "coordinates": [ { "allele": "A", "end": 966, "referenceAllele": "C", "start": 965 } ], "gene": "http://reg.genome.network/gene/GN030539", "geneNCBI_id": 123872, "geneSymbol": "DNAAF1", "hgvs": [ "XM_011522857.3:c.792C>A" ], "proteinEffect": { "hgvs": "XP_011521159.1:p.Tyr264Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS546787" }, { "coordinates": [ { "allele": "A", "end": 966, "referenceAllele": "C", "start": 965 } ], "gene": "http://reg.genome.network/gene/GN030539", "geneNCBI_id": 123872, "geneSymbol": "DNAAF1", "hgvs": [ "XM_011522858.3:c.792C>A" ], "proteinEffect": { "hgvs": "XP_011521160.1:p.Tyr264Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS546788" }, { "coordinates": [ { "allele": "A", "end": 966, "referenceAllele": "C", "start": 965 } ], "gene": "http://reg.genome.network/gene/GN030539", "geneNCBI_id": 123872, "geneSymbol": "DNAAF1", "hgvs": [ "XM_017022918.2:c.792C>A" ], "proteinEffect": { "hgvs": "XP_016878407.1:p.Tyr264Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS573761" }, { "coordinates": [ { "allele": "A", "end": 1281, "referenceAllele": "C", "start": 1280 } ], "gene": "http://reg.genome.network/gene/GN030539", "geneNCBI_id": 123872, "geneSymbol": "DNAAF1", "hgvs": [ "XM_017022919.1:c.531C>A" ], "proteinEffect": { "hgvs": "XP_016878408.1:p.Tyr177Ter", "hgvsWellDefined": "XP_016878408.1:p.Tyr177_Ser685delinsArgArgThrValThrValArgLeuLysHisLeuThrTyrLeuAspAspArgProValPheProLysAspArgAlaCysAlaGluAlaTrpAlaArgGlyGlyTyrAlaAlaGluLysGluGluArgGlnGlnTrpGluSerArgGluArgLysLysIleThrAspSerIleGluAlaLeuAlaMetIleLysGlnArgAlaGluGluArgLysArgGlnArgGluSerGlnGluArgGlyMetArgSerAlaGluAspAsnSerProArgValProLeuArgLeuGlyGluMetThrSerSerAspAspGlyGluAsnValProAlaSerAlaGluGlyLysGluGluProProGlyAspArgGluThrArgGlnLysMetGluLeuPheValLysGluSerPheGluAlaLysAspGluLeuCysProGluLysProSerGlyGluGluProProValGluAlaLysArgGluAspGlyGlyProGluProGluGlyThrLeuProAlaGluThrLeuLeuLeuSerSerProValGluValLysGlyGluAspGlyAspGlyGluProGluGlyThrLeuProAlaGluAlaProProProProProProValGluValLysGlyGluAspGlyAspGlnGluProGluGlyThrLeuProAlaGluThrLeuLeuLeuSerProProValLysValLysGlyGluAspGlyAspArgGluProGluGlyThrLeuProAlaGluAlaProProProProProLeuGlyAlaAlaArgGluGluProThrProGlnAlaValAlaThrGluGlyValPheValThrGluLeuAspGlyThrArgThrGluAspLeuGluThrIleArgLeuGluThrLysGluThrPheCysIleAspAspLeuProAspLeuGluAspAspAspGluThrGlyLysSerLeuGluAspGlnAsnMetCysPheProLysIleGluValIleSerSerLeuSerAspAspSerAspProGluLeuAspTyrThrSerLeuProValLeuGluAsnLeuProThrAspThrLeuSerAsnIlePheAlaValSerLysAspThrSerLysAlaAlaArgValProPheThrAspIlePheLysLysGluAlaLysArgAspLeuGluIleArgLysGlnAspThrLysSerProArgProLeuIleGlnGluLeuSerAspGluAspProSerGlyGlnLeuLeuMetProProThrCysGlnArgAspAlaAlaProLeuThrSerSerGlyAspArgAspSerAspPheLeuAlaAlaSerSerProGluMetGlyPheHisHisValAspGlnAlaGlyLeuGluLeuLeuThrSerGlyAspLeuPheAlaSerAlaSerGlnSerAlaGlyIleThrValProThrGluSerAlaAlaThrProProGluThrCysValGlyValAlaGlnProSerGlnAlaLeuProThrTrpAspLeuThrAlaPheProAlaProLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573762" }, { "coordinates": [ { "allele": "A", "end": 346, "referenceAllele": "C", "start": 345 } ], "gene": "http://reg.genome.network/gene/GN030539", "geneNCBI_id": 123872, "geneSymbol": "DNAAF1", "hgvs": [ "XM_017022920.2:c.36C>A" ], "proteinEffect": { "hgvs": "XP_016878409.1:p.Tyr12Ter", "hgvsWellDefined": "XP_016878409.1:p.Tyr12_Ser520delinsArgArgThrValThrValArgLeuLysHisLeuThrTyrLeuAspAspArgProValPheProLysAspArgAlaCysAlaGluAlaTrpAlaArgGlyGlyTyrAlaAlaGluLysGluGluArgGlnGlnTrpGluSerArgGluArgLysLysIleThrAspSerIleGluAlaLeuAlaMetIleLysGlnArgAlaGluGluArgLysArgGlnArgGluSerGlnGluArgGlyMetArgSerAlaGluAspAsnSerProArgValProLeuArgLeuGlyGluMetThrSerSerAspAspGlyGluAsnValProAlaSerAlaGluGlyLysGluGluProProGlyAspArgGluThrArgGlnLysMetGluLeuPheValLysGluSerPheGluAlaLysAspGluLeuCysProGluLysProSerGlyGluGluProProValGluAlaLysArgGluAspGlyGlyProGluProGluGlyThrLeuProAlaGluThrLeuLeuLeuSerSerProValGluValLysGlyGluAspGlyAspGlyGluProGluGlyThrLeuProAlaGluAlaProProProProProProValGluValLysGlyGluAspGlyAspGlnGluProGluGlyThrLeuProAlaGluThrLeuLeuLeuSerProProValLysValLysGlyGluAspGlyAspArgGluProGluGlyThrLeuProAlaGluAlaProProProProProLeuGlyAlaAlaArgGluGluProThrProGlnAlaValAlaThrGluGlyValPheValThrGluLeuAspGlyThrArgThrGluAspLeuGluThrIleArgLeuGluThrLysGluThrPheCysIleAspAspLeuProAspLeuGluAspAspAspGluThrGlyLysSerLeuGluAspGlnAsnMetCysPheProLysIleGluValIleSerSerLeuSerAspAspSerAspProGluLeuAspTyrThrSerLeuProValLeuGluAsnLeuProThrAspThrLeuSerAsnIlePheAlaValSerLysAspThrSerLysAlaAlaArgValProPheThrAspIlePheLysLysGluAlaLysArgAspLeuGluIleArgLysGlnAspThrLysSerProArgProLeuIleGlnGluLeuSerAspGluAspProSerGlyGlnLeuLeuMetProProThrCysGlnArgAspAlaAlaProLeuThrSerSerGlyAspArgAspSerAspPheLeuAlaAlaSerSerProGluMetGlyPheHisHisValAspGlnAlaGlyLeuGluLeuLeuThrSerGlyAspLeuPheAlaSerAlaSerGlnSerAlaGlyIleThrValProThrGluSerAlaAlaThrProProGluThrCysValGlyValAlaGlnProSerGlnAlaLeuProThrTrpAspLeuThrAlaPheProAlaProLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573763" }, { "coordinates": [ { "allele": "A", "end": 346, "referenceAllele": "C", "start": 345 } ], "gene": "http://reg.genome.network/gene/GN030539", "geneNCBI_id": 123872, "geneSymbol": "DNAAF1", "hgvs": [ "XM_017022921.2:c.36C>A" ], "proteinEffect": { "hgvs": "XP_016878410.1:p.Tyr12Ter", "hgvsWellDefined": "XP_016878410.1:p.Tyr12_Ser504delinsArgArgThrValThrValArgLeuLysHisLeuThrTyrLeuAspAspArgProValPheProLysAspArgAlaCysAlaGluAlaTrpAlaArgGlyGlyTyrAlaAlaGluLysGluGluArgGlnGlnTrpGluSerArgGluArgLysLysIleThrAspSerIleGluAlaLeuAlaMetIleLysGlnArgAlaGluGluArgLysArgGlnArgGluSerGlnGluArgGlyGluMetThrSerSerAspAspGlyGluAsnValProAlaSerAlaGluGlyLysGluGluProProGlyAspArgGluThrArgGlnLysMetGluLeuPheValLysGluSerPheGluAlaLysAspGluLeuCysProGluLysProSerGlyGluGluProProValGluAlaLysArgGluAspGlyGlyProGluProGluGlyThrLeuProAlaGluThrLeuLeuLeuSerSerProValGluValLysGlyGluAspGlyAspGlyGluProGluGlyThrLeuProAlaGluAlaProProProProProProValGluValLysGlyGluAspGlyAspGlnGluProGluGlyThrLeuProAlaGluThrLeuLeuLeuSerProProValLysValLysGlyGluAspGlyAspArgGluProGluGlyThrLeuProAlaGluAlaProProProProProLeuGlyAlaAlaArgGluGluProThrProGlnAlaValAlaThrGluGlyValPheValThrGluLeuAspGlyThrArgThrGluAspLeuGluThrIleArgLeuGluThrLysGluThrPheCysIleAspAspLeuProAspLeuGluAspAspAspGluThrGlyLysSerLeuGluAspGlnAsnMetCysPheProLysIleGluValIleSerSerLeuSerAspAspSerAspProGluLeuAspTyrThrSerLeuProValLeuGluAsnLeuProThrAspThrLeuSerAsnIlePheAlaValSerLysAspThrSerLysAlaAlaArgValProPheThrAspIlePheLysLysGluAlaLysArgAspLeuGluIleArgLysGlnAspThrLysSerProArgProLeuIleGlnGluLeuSerAspGluAspProSerGlyGlnLeuLeuMetProProThrCysGlnArgAspAlaAlaProLeuThrSerSerGlyAspArgAspSerAspPheLeuAlaAlaSerSerProGluMetGlyPheHisHisValAspGlnAlaGlyLeuGluLeuLeuThrSerGlyAspLeuPheAlaSerAlaSerGlnSerAlaGlyIleThrValProThrGluSerAlaAlaThrProProGluThrCysValGlyValAlaGlnProSerGlnAlaLeuProThrTrpAspLeuThrAlaPheProAlaProLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573764" }, { "coordinates": [ { "allele": "A", "end": 346, "referenceAllele": "C", "start": 345 } ], "gene": "http://reg.genome.network/gene/GN030539", "geneNCBI_id": 123872, "geneSymbol": "DNAAF1", "hgvs": [ "XM_017022922.2:c.36C>A" ], "proteinEffect": { "hgvs": "XP_016878411.1:p.Tyr12Ter", "hgvsWellDefined": "XP_016878411.1:p.Tyr12_Ser473delinsArgArgThrValThrValArgLeuLysHisLeuThrTyrLeuAspAspArgProValPheProLysAspArgAlaCysAlaGluAlaTrpAlaArgGlyGlyTyrAlaAlaGluLysGluGluArgGlnGlnTrpGluSerArgGluArgLysLysIleThrAspSerIleGluAlaLeuAlaMetIleLysGlnArgAlaGluGluArgLysArgGlnArgGluSerGlnGluArgGlyGluMetThrSerSerAspAspGlyGluAsnValProAlaSerAlaGluGlyLysGluGluProProGlyAspArgGluThrArgGlnLysMetGluLeuPheValLysGluSerPheGluAlaLysAspGluLeuCysProGluLysProSerGlyGluGluProProValGluAlaLysArgGluAspGlyGlyProGluProGluGlyThrLeuProAlaGluThrLeuLeuLeuSerSerProValGluValLysGlyGluAspGlyAspGlyGluProGluGlyThrLeuProAlaGluAlaProProProProProProValGluValLysGlyGluAspGlyAspGlnGluProGluGlyThrLeuProAlaGluThrLeuLeuLeuSerProProValLysValLysGlyGluAspGlyAspArgGluProGluGlyThrLeuProAlaGluAlaProProProProProLeuGlyAlaAlaArgGluGluProThrProGlnAlaValAlaThrGluGlyValPheValThrGluLeuAspGlyThrArgThrGluAspLeuGluThrIleArgLeuGluThrLysGluThrPheCysIleAspAspLeuProAspLeuGluAspAspAspGluThrGlyLysSerLeuGluAspGlnAsnMetCysPheProLysIleGluValIleSerSerLeuSerAspAspSerAspProGluLeuAspTyrThrSerLeuProValLeuGluAsnLeuProThrAspThrLeuSerAsnIlePheAlaValSerLysAspThrSerLysAlaAlaArgValProPheThrAspIlePheLysLysGluAlaLysArgAspLeuGluIleArgLysGlnAspThrLysSerProArgProLeuIleGlnGluLeuSerAspGluAspProSerGlyGlnLeuLeuMetProProThrCysGlnArgAspAlaAlaProLeuThrSerSerGlyAspArgAspSerAspPheLeuAlaAlaSerSerProValProThrGluSerAlaAlaThrProProGluThrCysValGlyValAlaGlnProSerGlnAlaLeuProThrTrpAspLeuThrAlaPheProAlaProLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573765" }, { "coordinates": [ { "allele": "A", "end": 966, "referenceAllele": "C", "start": 965 } ], "gene": "http://reg.genome.network/gene/GN030539", "geneNCBI_id": 123872, "geneSymbol": "DNAAF1", "hgvs": [ "XR_001751829.2:n.966C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS598629" }, { "coordinates": [ { "allele": "A", "end": 966, "referenceAllele": "C", "start": 965 } ], "gene": "http://reg.genome.network/gene/GN030539", "geneNCBI_id": 123872, "geneSymbol": "DNAAF1", "hgvs": [ "XR_001751830.2:n.966C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS598630" }, { "coordinates": [ { "allele": "A", "end": 966, "referenceAllele": "C", "start": 965 } ], "gene": "http://reg.genome.network/gene/GN030539", "geneNCBI_id": 123872, "geneSymbol": "DNAAF1", "hgvs": [ "XR_001751831.2:n.966C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS598631" }, { "coordinates": [ { "allele": "A", "end": 1275, "referenceAllele": "C", "start": 1274 } ], "gene": "http://reg.genome.network/gene/GN030539", "geneNCBI_id": 123872, "geneSymbol": "DNAAF1", "hgvs": [ "XR_001751832.1:n.1275C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS598632" }, { "@id": "http://reg.genome.network/allele/PA251403", "coordinates": [ { "allele": "A", "end": 925, "referenceAllele": "C", "start": 924 } ], "gene": "http://reg.genome.network/gene/GN030539", "geneNCBI_id": 123872, "geneSymbol": "DNAAF1", "hgvs": [ "NM_178452.6:c.792C>A" ], "proteinEffect": { "hgvs": "NP_848547.4:p.Tyr264Ter", "hgvsWellDefined": "NP_848547.4:p.Tyr264_Ser725delinsArgArgThrValThrValArgLeuLysHisLeuThrTyrLeuAspAspArgProValPheProLysAspArgAlaCysAlaGluAlaTrpAlaArgGlyGlyTyrAlaAlaGluLysGluGluArgGlnGlnTrpGluSerArgGluArgLysLysIleThrAspSerIleGluAlaLeuAlaMetIleLysGlnArgAlaGluGluArgLysArgGlnArgGluSerGlnGluArgGlyGluMetThrSerSerAspAspGlyGluAsnValProAlaSerAlaGluGlyLysGluGluProProGlyAspArgGluThrArgGlnLysMetGluLeuPheValLysGluSerPheGluAlaLysAspGluLeuCysProGluLysProSerGlyGluGluProProValGluAlaLysArgGluAspGlyGlyProGluProGluGlyThrLeuProAlaGluThrLeuLeuLeuSerSerProValGluValLysGlyGluAspGlyAspGlyGluProGluGlyThrLeuProAlaGluAlaProProProProProProValGluValLysGlyGluAspGlyAspGlnGluProGluGlyThrLeuProAlaGluThrLeuLeuLeuSerProProValLysValLysGlyGluAspGlyAspArgGluProGluGlyThrLeuProAlaGluAlaProProProProProLeuGlyAlaAlaArgGluGluProThrProGlnAlaValAlaThrGluGlyValPheValThrGluLeuAspGlyThrArgThrGluAspLeuGluThrIleArgLeuGluThrLysGluThrPheCysIleAspAspLeuProAspLeuGluAspAspAspGluThrGlyLysSerLeuGluAspGlnAsnMetCysPheProLysIleGluValIleSerSerLeuSerAspAspSerAspProGluLeuAspTyrThrSerLeuProValLeuGluAsnLeuProThrAspThrLeuSerAsnIlePheAlaValSerLysAspThrSerLysAlaAlaArgValProPheThrAspIlePheLysLysGluAlaLysArgAspLeuGluIleArgLysGlnAspThrLysSerProArgProLeuIleGlnGluLeuSerAspGluAspProSerGlyGlnLeuLeuMetProProThrCysGlnArgAspAlaAlaProLeuThrSerSerGlyAspArgAspSerAspPheLeuAlaAlaSerSerProValProThrGluSerAlaAlaThrProProGluThrCysValGlyValAlaGlnProSerGlnAlaLeuProThrTrpAspLeuThrAlaPheProAlaProLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS672860", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000378553.10:c.792C>A" }, "RefSeq": { "hgvs": "NM_178452.6:c.792C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000367815.5:p.Tyr264Ter" }, "RefSeq": { "hgvs": "NP_848547.4:p.Tyr264Ter" } } } } ], "type": "nucleotide" }