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"http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "ENST00000691339.1:c.*1033C>A" ], "proteinEffect": { "hgvs": "ENSP00000509953.1:n.*1033C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS833164" }, { "coordinates": [ { "allele": "A", "end": 1633, "referenceAllele": "C", "start": 1632 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "ENST00000691478.1:c.*1509C>A" ], "proteinEffect": { "hgvs": "ENSP00000509081.1:n.*1509C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS833237" }, { "coordinates": [ { "allele": "A", "end": 1429, "referenceAllele": "C", "start": 1428 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "ENST00000693554.1:c.1410C>A" ], "proteinEffect": { "hgvs": "ENSP00000509030.1:p.Tyr470Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS834305" }, { "coordinates": [ { "allele": "A", "end": 1426, "referenceAllele": "C", "start": 1425 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "ENST00000264158.13:c.1410C>A" ], "proteinEffect": { "hgvs": "ENSP00000264158.8:p.Tyr470Ter", "hgvsWellDefined": "ENSP00000264158.8:p.Tyr470_Phe981delinsHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaGlyAlaPheSerSerAspThrSerPhePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS742627", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000264158.13:c.1410C>A" }, "RefSeq": { "hgvs": "NM_012233.3:c.1410C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000264158.8:p.Tyr470Ter" }, "RefSeq": { "hgvs": "NP_036365.1:p.Tyr470Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1453, "referenceAllele": "C", "start": 1452 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "ENST00000264158.12:c.1410C>A" ], "proteinEffect": { "hgvs": "ENSP00000264158.7:p.Tyr470Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS251429" }, { "coordinates": [ { "allele": "A", "end": 1420, "referenceAllele": "C", "start": 1419 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "ENST00000442034.5:c.1410C>A" ], "proteinEffect": { "hgvs": "ENSP00000411418.1:p.Tyr470Ter", "hgvsWellDefined": "ENSP00000411418.1:p.Tyr470_Phe988delinsHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgLeuThrGluSerSerAspGluAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaGlyAlaPheSerSerAspThrSerPhePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS296694" }, { "coordinates": [ { "allele": "A", "end": 1479, "referenceAllele": "C", "start": 1478 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "ENST00000487003.5:n.1479C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS325672" }, { "coordinates": [ { "allele": "A", "end": 1278, "referenceAllele": "C", "start": 1277 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "ENST00000539493.2:c.1278C>A" ], "proteinEffect": { "hgvs": "ENSP00000444306.1:p.Tyr426Ter", "hgvsWellDefined": "ENSP00000444306.1:p.Tyr426_Val935delinsHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaValLysIleIleAspGlyAspValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS361888" }, { "@id": "http://reg.genome.network/allele/PA118606", "coordinates": [ { "allele": "A", "end": 1453, "referenceAllele": "C", "start": 1452 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "NM_001172435.1:c.1410C>A" ], "proteinEffect": { "hgvs": "NP_001165906.1:p.Tyr470Ter", "hgvsWellDefined": "NP_001165906.1:p.Tyr470_Phe988delinsHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgLeuThrGluSerSerAspGluAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaGlyAlaPheSerSerAspThrSerPhePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS015463" }, { "@id": "http://reg.genome.network/allele/PA916004504", "coordinates": [ { "allele": "A", "end": 1453, "referenceAllele": "C", "start": 1452 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "NM_012233.2:c.1410C>A" ], "proteinEffect": { "hgvs": "NP_036365.1:p.Tyr470Ter", "hgvsWellDefined": "NP_036365.1:p.Tyr470_Phe981delinsHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaGlyAlaPheSerSerAspThrSerPhePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032418" }, { "coordinates": [ { "allele": "A", "end": 1453, "referenceAllele": "C", "start": 1452 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "XM_011510822.1:c.1410C>A" ], "proteinEffect": { "hgvs": "XP_011509124.1:p.Tyr470Ter", "hgvsWellDefined": "XP_011509124.1:p.Tyr470_Pro1031delinsHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgLeuThrGluSerSerAspGluAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaAlaProGlnValCysProGlyArgGlnLeuLeuProGlyAlaGlyIleGluAlaAsnLeuGlnGluLysProThrHisSerArgCysValGluAlaAlaGlyArgAsnProAlaArgIleGlnLeuGlyCysAsnGlyAsnAsnAlaThrAsnAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078083" }, { "coordinates": [ { "allele": "A", "end": 1453, "referenceAllele": "C", "start": 1452 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "XM_011510823.1:c.1410C>A" ], "proteinEffect": { "hgvs": "XP_011509125.1:p.Tyr470Ter", "hgvsWellDefined": "XP_011509125.1:p.Tyr470_Pro1024delinsHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaAlaProGlnValCysProGlyArgGlnLeuLeuProGlyAlaGlyIleGluAlaAsnLeuGlnGluLysProThrHisSerArgCysValGluAlaAlaGlyArgAsnProAlaArgIleGlnLeuGlyCysAsnGlyAsnAsnAlaThrAsnAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078084" }, { "coordinates": [ { "allele": "A", "end": 1453, "referenceAllele": "C", "start": 1452 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "XM_011510824.1:c.1410C>A" ], "proteinEffect": { "hgvs": "XP_011509126.1:p.Tyr470Ter", "hgvsWellDefined": "XP_011509126.1:p.Tyr470_Val986delinsHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgLeuThrGluSerSerAspGluAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaValLysIleIleAspGlyAspValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078085" }, { "coordinates": [ { "allele": "A", "end": 1453, "referenceAllele": "C", "start": 1452 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "XM_011510825.1:c.1410C>A" ], "proteinEffect": { "hgvs": "XP_011509127.1:p.Tyr470Ter", "hgvsWellDefined": "XP_011509127.1:p.Tyr470_Val979delinsHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaValLysIleIleAspGlyAspValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078086" }, { "coordinates": [ { "allele": "A", "end": 1437, "referenceAllele": "C", "start": 1436 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "XM_011510823.3:c.1410C>A" ], "proteinEffect": { "hgvs": "XP_011509125.1:p.Tyr470Ter", "hgvsWellDefined": "XP_011509125.1:p.Tyr470_Pro1024delinsHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaAlaProGlnValCysProGlyArgGlnLeuLeuProGlyAlaGlyIleGluAlaAsnLeuGlnGluLysProThrHisSerArgCysValGluAlaAlaGlyArgAsnProAlaArgIleGlnLeuGlyCysAsnGlyAsnAsnAlaThrAsnAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541905" }, { "coordinates": [ { "allele": "A", "end": 1437, "referenceAllele": "C", "start": 1436 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "XM_011510825.3:c.1410C>A" ], "proteinEffect": { "hgvs": "XP_011509127.1:p.Tyr470Ter", "hgvsWellDefined": "XP_011509127.1:p.Tyr470_Val979delinsHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaValLysIleIleAspGlyAspValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541906" }, { "coordinates": [ { "allele": "A", "end": 1437, "referenceAllele": "C", "start": 1436 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "XR_001738674.2:n.1437C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS589149" }, { "@id": "http://reg.genome.network/allele/PA118606", "coordinates": [ { "allele": "A", "end": 1426, "referenceAllele": "C", "start": 1425 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "NM_001172435.2:c.1410C>A" ], "proteinEffect": { "hgvs": "NP_001165906.1:p.Tyr470Ter", "hgvsWellDefined": "NP_001165906.1:p.Tyr470_Phe988delinsHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgLeuThrGluSerSerAspGluAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaGlyAlaPheSerSerAspThrSerPhePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678754" }, { "@id": "http://reg.genome.network/allele/PA916004504", "coordinates": [ { "allele": "A", "end": 1426, "referenceAllele": "C", "start": 1425 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "NM_012233.3:c.1410C>A" ], "proteinEffect": { "hgvs": "NP_036365.1:p.Tyr470Ter", "hgvsWellDefined": "NP_036365.1:p.Tyr470_Phe981delinsHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaGlyAlaPheSerSerAspThrSerPhePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697025", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000264158.13:c.1410C>A" }, "RefSeq": { "hgvs": "NM_012233.3:c.1410C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000264158.8:p.Tyr470Ter" }, "RefSeq": { "hgvs": "NP_036365.1:p.Tyr470Ter" } } } } ], "type": "nucleotide" }