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}, "referenceSequence": "http://reg.genome.network/refseq/RS251429" }, { "coordinates": [ { "allele": "A", "end": 529, "referenceAllele": "G", "start": 528 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "ENST00000442034.5:c.519G>A" ], "proteinEffect": { "hgvs": "ENSP00000411418.1:p.Trp173Ter", "hgvsWellDefined": "ENSP00000411418.1:p.Trp173_Phe988delinsArgArgMetTyrValGlyGluCysGlnGlyProGlyValArgThrAspPheGluMetValHisLeuArgLysValProAsnGlnTyrThrHisLeuSerGlyLeuLeuAspIlePheLysSerLysIleGlyCysProLeuThrProLeuProProValSerIleAlaIleArgPheThrTyrValLeuGlnAspTrpGlnGlnTyrPheTrpProGlnGlnProProAspIleAspAlaLeuValGlyGlyGluValGlyGlyLeuGluPheGlyLysLeuProPheGlyAlaCysGluAspProIleSerGluLeuHisLeuAlaThrThrTrpProHisLeuThrGluGlyIleIleValAspAsnAspValTyrSerAspLeuAspProIleGlnAlaProHisTrpSerValArgValArgLysAlaGluAsnProGlnCysLeuLeuGlyAspPheValThrGluPhePheLysIleCysArgArgLysGluSerThrAspGluIleLeuGlyArgSerAlaPheGluGluGluGlyLysGluThrAlaAspIleThrHisAlaLeuSerLysLeuThrGluProAlaSerValProIleHisLysLeuSerValSerAsnMetValHisThrAlaLysLysLysIleArgLysHisArgGlyValGluGluSerProLeuAsnAsnAspValLeuAsnThrIleLeuLeuPheLeuPheProAspAlaValSerGluLysProLeuAspGlyThrThrSerThrAspAsnAsnAsnProProSerGluSerGluAspTyrAsnLeuTyrAsnGlnPheLysSerAlaProSerAspSerLeuThrTyrLysLeuAlaLeuCysLeuCysMetIleAsnPheTyrHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgLeuThrGluSerSerAspGluAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaGlyAlaPheSerSerAspThrSerPhePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS296694" }, { "coordinates": [ { "allele": "A", "end": 588, "referenceAllele": "G", "start": 587 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "ENST00000487003.5:n.588G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS325672" }, { "coordinates": [ { "allele": "A", "end": 387, "referenceAllele": "G", "start": 386 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "ENST00000539493.2:c.387G>A" ], "proteinEffect": { "hgvs": "ENSP00000444306.1:p.Trp129Ter", "hgvsWellDefined": "ENSP00000444306.1:p.Trp129_Val935delinsArgArgMetTyrValGlyGluCysGlnGlyProGlyValArgThrAspPheGluMetValHisLeuArgLysValProAsnGlnTyrThrHisLeuSerGlyLeuLeuAspIlePheLysSerLysIleGlyCysProLeuThrProLeuProProValSerIleAlaIleArgPheThrTyrValLeuGlnAspTrpGlnGlnTyrPheTrpProGlnGlnProProAspIleAspAlaLeuValGlyGlyGluValGlyGlyLeuGluPheGlyLysLeuProPheGlyAlaCysGluAspProIleSerGluLeuHisLeuAlaThrThrTrpProHisLeuThrGluGlyIleIleValAspAsnAspValTyrSerAspLeuAspProIleGlnAlaProHisTrpSerValArgValArgLysAlaGluAsnProGlnCysLeuLeuGlyAspPheValThrGluPhePheLysIleCysArgArgLysGluSerThrAspGluIleLeuGlyArgSerAlaPheGluGluGluGlyLysGluThrAlaAspIleThrHisAlaLeuSerLysLeuThrGluProAlaSerValProIleHisLysLeuSerValSerAsnMetValHisThrAlaLysLysLysIleArgLysHisArgGlyValGluGluSerProLeuAsnAsnAspValLeuAsnThrIleLeuLeuPheLeuPheProAspAlaValSerGluLysProLeuAspGlyThrThrSerThrAspAsnAsnAsnProProSerGluSerGluAspTyrAsnLeuTyrAsnGlnPheLysSerAlaProSerAspSerLeuThrTyrLysLeuAlaLeuCysLeuCysMetIleAsnPheTyrHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaValLysIleIleAspGlyAspValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS361888" }, { "@id": "http://reg.genome.network/allele/PA2826065023", "coordinates": [ { "allele": "A", "end": 562, "referenceAllele": "G", "start": 561 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "NM_001172435.1:c.519G>A" ], "proteinEffect": { "hgvs": "NP_001165906.1:p.Trp173Ter", "hgvsWellDefined": "NP_001165906.1:p.Trp173_Phe988delinsArgArgMetTyrValGlyGluCysGlnGlyProGlyValArgThrAspPheGluMetValHisLeuArgLysValProAsnGlnTyrThrHisLeuSerGlyLeuLeuAspIlePheLysSerLysIleGlyCysProLeuThrProLeuProProValSerIleAlaIleArgPheThrTyrValLeuGlnAspTrpGlnGlnTyrPheTrpProGlnGlnProProAspIleAspAlaLeuValGlyGlyGluValGlyGlyLeuGluPheGlyLysLeuProPheGlyAlaCysGluAspProIleSerGluLeuHisLeuAlaThrThrTrpProHisLeuThrGluGlyIleIleValAspAsnAspValTyrSerAspLeuAspProIleGlnAlaProHisTrpSerValArgValArgLysAlaGluAsnProGlnCysLeuLeuGlyAspPheValThrGluPhePheLysIleCysArgArgLysGluSerThrAspGluIleLeuGlyArgSerAlaPheGluGluGluGlyLysGluThrAlaAspIleThrHisAlaLeuSerLysLeuThrGluProAlaSerValProIleHisLysLeuSerValSerAsnMetValHisThrAlaLysLysLysIleArgLysHisArgGlyValGluGluSerProLeuAsnAsnAspValLeuAsnThrIleLeuLeuPheLeuPheProAspAlaValSerGluLysProLeuAspGlyThrThrSerThrAspAsnAsnAsnProProSerGluSerGluAspTyrAsnLeuTyrAsnGlnPheLysSerAlaProSerAspSerLeuThrTyrLysLeuAlaLeuCysLeuCysMetIleAsnPheTyrHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgLeuThrGluSerSerAspGluAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaGlyAlaPheSerSerAspThrSerPhePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS015463" }, { "@id": "http://reg.genome.network/allele/PA2580373653", "coordinates": [ { "allele": "A", "end": 562, "referenceAllele": "G", "start": 561 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "NM_012233.2:c.519G>A" ], "proteinEffect": { "hgvs": "NP_036365.1:p.Trp173Ter", "hgvsWellDefined": "NP_036365.1:p.Trp173_Phe981delinsArgArgMetTyrValGlyGluCysGlnGlyProGlyValArgThrAspPheGluMetValHisLeuArgLysValProAsnGlnTyrThrHisLeuSerGlyLeuLeuAspIlePheLysSerLysIleGlyCysProLeuThrProLeuProProValSerIleAlaIleArgPheThrTyrValLeuGlnAspTrpGlnGlnTyrPheTrpProGlnGlnProProAspIleAspAlaLeuValGlyGlyGluValGlyGlyLeuGluPheGlyLysLeuProPheGlyAlaCysGluAspProIleSerGluLeuHisLeuAlaThrThrTrpProHisLeuThrGluGlyIleIleValAspAsnAspValTyrSerAspLeuAspProIleGlnAlaProHisTrpSerValArgValArgLysAlaGluAsnProGlnCysLeuLeuGlyAspPheValThrGluPhePheLysIleCysArgArgLysGluSerThrAspGluIleLeuGlyArgSerAlaPheGluGluGluGlyLysGluThrAlaAspIleThrHisAlaLeuSerLysLeuThrGluProAlaSerValProIleHisLysLeuSerValSerAsnMetValHisThrAlaLysLysLysIleArgLysHisArgGlyValGluGluSerProLeuAsnAsnAspValLeuAsnThrIleLeuLeuPheLeuPheProAspAlaValSerGluLysProLeuAspGlyThrThrSerThrAspAsnAsnAsnProProSerGluSerGluAspTyrAsnLeuTyrAsnGlnPheLysSerAlaProSerAspSerLeuThrTyrLysLeuAlaLeuCysLeuCysMetIleAsnPheTyrHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaGlyAlaPheSerSerAspThrSerPhePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032418" }, { "coordinates": [ { "allele": "A", "end": 562, "referenceAllele": "G", "start": 561 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "XM_011510822.1:c.519G>A" ], "proteinEffect": { "hgvs": "XP_011509124.1:p.Trp173Ter", "hgvsWellDefined": "XP_011509124.1:p.Trp173_Pro1031delinsArgArgMetTyrValGlyGluCysGlnGlyProGlyValArgThrAspPheGluMetValHisLeuArgLysValProAsnGlnTyrThrHisLeuSerGlyLeuLeuAspIlePheLysSerLysIleGlyCysProLeuThrProLeuProProValSerIleAlaIleArgPheThrTyrValLeuGlnAspTrpGlnGlnTyrPheTrpProGlnGlnProProAspIleAspAlaLeuValGlyGlyGluValGlyGlyLeuGluPheGlyLysLeuProPheGlyAlaCysGluAspProIleSerGluLeuHisLeuAlaThrThrTrpProHisLeuThrGluGlyIleIleValAspAsnAspValTyrSerAspLeuAspProIleGlnAlaProHisTrpSerValArgValArgLysAlaGluAsnProGlnCysLeuLeuGlyAspPheValThrGluPhePheLysIleCysArgArgLysGluSerThrAspGluIleLeuGlyArgSerAlaPheGluGluGluGlyLysGluThrAlaAspIleThrHisAlaLeuSerLysLeuThrGluProAlaSerValProIleHisLysLeuSerValSerAsnMetValHisThrAlaLysLysLysIleArgLysHisArgGlyValGluGluSerProLeuAsnAsnAspValLeuAsnThrIleLeuLeuPheLeuPheProAspAlaValSerGluLysProLeuAspGlyThrThrSerThrAspAsnAsnAsnProProSerGluSerGluAspTyrAsnLeuTyrAsnGlnPheLysSerAlaProSerAspSerLeuThrTyrLysLeuAlaLeuCysLeuCysMetIleAsnPheTyrHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgLeuThrGluSerSerAspGluAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaAlaProGlnValCysProGlyArgGlnLeuLeuProGlyAlaGlyIleGluAlaAsnLeuGlnGluLysProThrHisSerArgCysValGluAlaAlaGlyArgAsnProAlaArgIleGlnLeuGlyCysAsnGlyAsnAsnAlaThrAsnAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078083" }, { "coordinates": [ { "allele": "A", "end": 562, "referenceAllele": "G", "start": 561 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "XM_011510823.1:c.519G>A" ], "proteinEffect": { "hgvs": "XP_011509125.1:p.Trp173Ter", "hgvsWellDefined": "XP_011509125.1:p.Trp173_Pro1024delinsArgArgMetTyrValGlyGluCysGlnGlyProGlyValArgThrAspPheGluMetValHisLeuArgLysValProAsnGlnTyrThrHisLeuSerGlyLeuLeuAspIlePheLysSerLysIleGlyCysProLeuThrProLeuProProValSerIleAlaIleArgPheThrTyrValLeuGlnAspTrpGlnGlnTyrPheTrpProGlnGlnProProAspIleAspAlaLeuValGlyGlyGluValGlyGlyLeuGluPheGlyLysLeuProPheGlyAlaCysGluAspProIleSerGluLeuHisLeuAlaThrThrTrpProHisLeuThrGluGlyIleIleValAspAsnAspValTyrSerAspLeuAspProIleGlnAlaProHisTrpSerValArgValArgLysAlaGluAsnProGlnCysLeuLeuGlyAspPheValThrGluPhePheLysIleCysArgArgLysGluSerThrAspGluIleLeuGlyArgSerAlaPheGluGluGluGlyLysGluThrAlaAspIleThrHisAlaLeuSerLysLeuThrGluProAlaSerValProIleHisLysLeuSerValSerAsnMetValHisThrAlaLysLysLysIleArgLysHisArgGlyValGluGluSerProLeuAsnAsnAspValLeuAsnThrIleLeuLeuPheLeuPheProAspAlaValSerGluLysProLeuAspGlyThrThrSerThrAspAsnAsnAsnProProSerGluSerGluAspTyrAsnLeuTyrAsnGlnPheLysSerAlaProSerAspSerLeuThrTyrLysLeuAlaLeuCysLeuCysMetIleAsnPheTyrHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaAlaProGlnValCysProGlyArgGlnLeuLeuProGlyAlaGlyIleGluAlaAsnLeuGlnGluLysProThrHisSerArgCysValGluAlaAlaGlyArgAsnProAlaArgIleGlnLeuGlyCysAsnGlyAsnAsnAlaThrAsnAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078084" }, { "coordinates": [ { "allele": "A", "end": 562, "referenceAllele": "G", "start": 561 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "XM_011510824.1:c.519G>A" ], "proteinEffect": { "hgvs": "XP_011509126.1:p.Trp173Ter", "hgvsWellDefined": "XP_011509126.1:p.Trp173_Val986delinsArgArgMetTyrValGlyGluCysGlnGlyProGlyValArgThrAspPheGluMetValHisLeuArgLysValProAsnGlnTyrThrHisLeuSerGlyLeuLeuAspIlePheLysSerLysIleGlyCysProLeuThrProLeuProProValSerIleAlaIleArgPheThrTyrValLeuGlnAspTrpGlnGlnTyrPheTrpProGlnGlnProProAspIleAspAlaLeuValGlyGlyGluValGlyGlyLeuGluPheGlyLysLeuProPheGlyAlaCysGluAspProIleSerGluLeuHisLeuAlaThrThrTrpProHisLeuThrGluGlyIleIleValAspAsnAspValTyrSerAspLeuAspProIleGlnAlaProHisTrpSerValArgValArgLysAlaGluAsnProGlnCysLeuLeuGlyAspPheValThrGluPhePheLysIleCysArgArgLysGluSerThrAspGluIleLeuGlyArgSerAlaPheGluGluGluGlyLysGluThrAlaAspIleThrHisAlaLeuSerLysLeuThrGluProAlaSerValProIleHisLysLeuSerValSerAsnMetValHisThrAlaLysLysLysIleArgLysHisArgGlyValGluGluSerProLeuAsnAsnAspValLeuAsnThrIleLeuLeuPheLeuPheProAspAlaValSerGluLysProLeuAspGlyThrThrSerThrAspAsnAsnAsnProProSerGluSerGluAspTyrAsnLeuTyrAsnGlnPheLysSerAlaProSerAspSerLeuThrTyrLysLeuAlaLeuCysLeuCysMetIleAsnPheTyrHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgLeuThrGluSerSerAspGluAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaValLysIleIleAspGlyAspValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078085" }, { "coordinates": [ { "allele": "A", "end": 562, "referenceAllele": "G", "start": 561 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "XM_011510825.1:c.519G>A" ], "proteinEffect": { "hgvs": "XP_011509127.1:p.Trp173Ter", "hgvsWellDefined": "XP_011509127.1:p.Trp173_Val979delinsArgArgMetTyrValGlyGluCysGlnGlyProGlyValArgThrAspPheGluMetValHisLeuArgLysValProAsnGlnTyrThrHisLeuSerGlyLeuLeuAspIlePheLysSerLysIleGlyCysProLeuThrProLeuProProValSerIleAlaIleArgPheThrTyrValLeuGlnAspTrpGlnGlnTyrPheTrpProGlnGlnProProAspIleAspAlaLeuValGlyGlyGluValGlyGlyLeuGluPheGlyLysLeuProPheGlyAlaCysGluAspProIleSerGluLeuHisLeuAlaThrThrTrpProHisLeuThrGluGlyIleIleValAspAsnAspValTyrSerAspLeuAspProIleGlnAlaProHisTrpSerValArgValArgLysAlaGluAsnProGlnCysLeuLeuGlyAspPheValThrGluPhePheLysIleCysArgArgLysGluSerThrAspGluIleLeuGlyArgSerAlaPheGluGluGluGlyLysGluThrAlaAspIleThrHisAlaLeuSerLysLeuThrGluProAlaSerValProIleHisLysLeuSerValSerAsnMetValHisThrAlaLysLysLysIleArgLysHisArgGlyValGluGluSerProLeuAsnAsnAspValLeuAsnThrIleLeuLeuPheLeuPheProAspAlaValSerGluLysProLeuAspGlyThrThrSerThrAspAsnAsnAsnProProSerGluSerGluAspTyrAsnLeuTyrAsnGlnPheLysSerAlaProSerAspSerLeuThrTyrLysLeuAlaLeuCysLeuCysMetIleAsnPheTyrHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaValLysIleIleAspGlyAspValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078086" }, { "coordinates": [ { "allele": "A", "end": 546, "referenceAllele": "G", "start": 545 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "XM_011510823.3:c.519G>A" ], "proteinEffect": { "hgvs": "XP_011509125.1:p.Trp173Ter", "hgvsWellDefined": "XP_011509125.1:p.Trp173_Pro1024delinsArgArgMetTyrValGlyGluCysGlnGlyProGlyValArgThrAspPheGluMetValHisLeuArgLysValProAsnGlnTyrThrHisLeuSerGlyLeuLeuAspIlePheLysSerLysIleGlyCysProLeuThrProLeuProProValSerIleAlaIleArgPheThrTyrValLeuGlnAspTrpGlnGlnTyrPheTrpProGlnGlnProProAspIleAspAlaLeuValGlyGlyGluValGlyGlyLeuGluPheGlyLysLeuProPheGlyAlaCysGluAspProIleSerGluLeuHisLeuAlaThrThrTrpProHisLeuThrGluGlyIleIleValAspAsnAspValTyrSerAspLeuAspProIleGlnAlaProHisTrpSerValArgValArgLysAlaGluAsnProGlnCysLeuLeuGlyAspPheValThrGluPhePheLysIleCysArgArgLysGluSerThrAspGluIleLeuGlyArgSerAlaPheGluGluGluGlyLysGluThrAlaAspIleThrHisAlaLeuSerLysLeuThrGluProAlaSerValProIleHisLysLeuSerValSerAsnMetValHisThrAlaLysLysLysIleArgLysHisArgGlyValGluGluSerProLeuAsnAsnAspValLeuAsnThrIleLeuLeuPheLeuPheProAspAlaValSerGluLysProLeuAspGlyThrThrSerThrAspAsnAsnAsnProProSerGluSerGluAspTyrAsnLeuTyrAsnGlnPheLysSerAlaProSerAspSerLeuThrTyrLysLeuAlaLeuCysLeuCysMetIleAsnPheTyrHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaAlaProGlnValCysProGlyArgGlnLeuLeuProGlyAlaGlyIleGluAlaAsnLeuGlnGluLysProThrHisSerArgCysValGluAlaAlaGlyArgAsnProAlaArgIleGlnLeuGlyCysAsnGlyAsnAsnAlaThrAsnAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541905" }, { "coordinates": [ { "allele": "A", "end": 546, "referenceAllele": "G", "start": 545 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "XM_011510825.3:c.519G>A" ], "proteinEffect": { "hgvs": "XP_011509127.1:p.Trp173Ter", "hgvsWellDefined": "XP_011509127.1:p.Trp173_Val979delinsArgArgMetTyrValGlyGluCysGlnGlyProGlyValArgThrAspPheGluMetValHisLeuArgLysValProAsnGlnTyrThrHisLeuSerGlyLeuLeuAspIlePheLysSerLysIleGlyCysProLeuThrProLeuProProValSerIleAlaIleArgPheThrTyrValLeuGlnAspTrpGlnGlnTyrPheTrpProGlnGlnProProAspIleAspAlaLeuValGlyGlyGluValGlyGlyLeuGluPheGlyLysLeuProPheGlyAlaCysGluAspProIleSerGluLeuHisLeuAlaThrThrTrpProHisLeuThrGluGlyIleIleValAspAsnAspValTyrSerAspLeuAspProIleGlnAlaProHisTrpSerValArgValArgLysAlaGluAsnProGlnCysLeuLeuGlyAspPheValThrGluPhePheLysIleCysArgArgLysGluSerThrAspGluIleLeuGlyArgSerAlaPheGluGluGluGlyLysGluThrAlaAspIleThrHisAlaLeuSerLysLeuThrGluProAlaSerValProIleHisLysLeuSerValSerAsnMetValHisThrAlaLysLysLysIleArgLysHisArgGlyValGluGluSerProLeuAsnAsnAspValLeuAsnThrIleLeuLeuPheLeuPheProAspAlaValSerGluLysProLeuAspGlyThrThrSerThrAspAsnAsnAsnProProSerGluSerGluAspTyrAsnLeuTyrAsnGlnPheLysSerAlaProSerAspSerLeuThrTyrLysLeuAlaLeuCysLeuCysMetIleAsnPheTyrHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaValLysIleIleAspGlyAspValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541906" }, { "coordinates": [ { "allele": "A", "end": 546, "referenceAllele": "G", "start": 545 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "XR_001738674.2:n.546G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS589149" }, { "@id": "http://reg.genome.network/allele/PA2826065023", "coordinates": [ { "allele": "A", "end": 535, "referenceAllele": "G", "start": 534 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "NM_001172435.2:c.519G>A" ], "proteinEffect": { "hgvs": "NP_001165906.1:p.Trp173Ter", "hgvsWellDefined": "NP_001165906.1:p.Trp173_Phe988delinsArgArgMetTyrValGlyGluCysGlnGlyProGlyValArgThrAspPheGluMetValHisLeuArgLysValProAsnGlnTyrThrHisLeuSerGlyLeuLeuAspIlePheLysSerLysIleGlyCysProLeuThrProLeuProProValSerIleAlaIleArgPheThrTyrValLeuGlnAspTrpGlnGlnTyrPheTrpProGlnGlnProProAspIleAspAlaLeuValGlyGlyGluValGlyGlyLeuGluPheGlyLysLeuProPheGlyAlaCysGluAspProIleSerGluLeuHisLeuAlaThrThrTrpProHisLeuThrGluGlyIleIleValAspAsnAspValTyrSerAspLeuAspProIleGlnAlaProHisTrpSerValArgValArgLysAlaGluAsnProGlnCysLeuLeuGlyAspPheValThrGluPhePheLysIleCysArgArgLysGluSerThrAspGluIleLeuGlyArgSerAlaPheGluGluGluGlyLysGluThrAlaAspIleThrHisAlaLeuSerLysLeuThrGluProAlaSerValProIleHisLysLeuSerValSerAsnMetValHisThrAlaLysLysLysIleArgLysHisArgGlyValGluGluSerProLeuAsnAsnAspValLeuAsnThrIleLeuLeuPheLeuPheProAspAlaValSerGluLysProLeuAspGlyThrThrSerThrAspAsnAsnAsnProProSerGluSerGluAspTyrAsnLeuTyrAsnGlnPheLysSerAlaProSerAspSerLeuThrTyrLysLeuAlaLeuCysLeuCysMetIleAsnPheTyrHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgLeuThrGluSerSerAspGluAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaGlyAlaPheSerSerAspThrSerPhePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678754" }, { "@id": "http://reg.genome.network/allele/PA2580373653", "coordinates": [ { "allele": "A", "end": 535, "referenceAllele": "G", "start": 534 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "NM_012233.3:c.519G>A" ], "proteinEffect": { "hgvs": "NP_036365.1:p.Trp173Ter", "hgvsWellDefined": "NP_036365.1:p.Trp173_Phe981delinsArgArgMetTyrValGlyGluCysGlnGlyProGlyValArgThrAspPheGluMetValHisLeuArgLysValProAsnGlnTyrThrHisLeuSerGlyLeuLeuAspIlePheLysSerLysIleGlyCysProLeuThrProLeuProProValSerIleAlaIleArgPheThrTyrValLeuGlnAspTrpGlnGlnTyrPheTrpProGlnGlnProProAspIleAspAlaLeuValGlyGlyGluValGlyGlyLeuGluPheGlyLysLeuProPheGlyAlaCysGluAspProIleSerGluLeuHisLeuAlaThrThrTrpProHisLeuThrGluGlyIleIleValAspAsnAspValTyrSerAspLeuAspProIleGlnAlaProHisTrpSerValArgValArgLysAlaGluAsnProGlnCysLeuLeuGlyAspPheValThrGluPhePheLysIleCysArgArgLysGluSerThrAspGluIleLeuGlyArgSerAlaPheGluGluGluGlyLysGluThrAlaAspIleThrHisAlaLeuSerLysLeuThrGluProAlaSerValProIleHisLysLeuSerValSerAsnMetValHisThrAlaLysLysLysIleArgLysHisArgGlyValGluGluSerProLeuAsnAsnAspValLeuAsnThrIleLeuLeuPheLeuPheProAspAlaValSerGluLysProLeuAspGlyThrThrSerThrAspAsnAsnAsnProProSerGluSerGluAspTyrAsnLeuTyrAsnGlnPheLysSerAlaProSerAspSerLeuThrTyrLysLeuAlaLeuCysLeuCysMetIleAsnPheTyrHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaGlyAlaPheSerSerAspThrSerPhePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697025", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000264158.13:c.519G>A" }, "RefSeq": { "hgvs": "NM_012233.3:c.519G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000264158.8:p.Trp173Ter" }, "RefSeq": { "hgvs": "NP_036365.1:p.Trp173Ter" } } } } ], "type": "nucleotide" }