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"http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "ENST00000689880.1:n.488G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS832421" }, { "coordinates": [ { "allele": "T", "end": 350, "referenceAllele": "G", "start": 349 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "ENST00000690208.1:c.*147G>T" ], "proteinEffect": { "hgvs": "ENSP00000510746.1:n.*147G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS832586" }, { "coordinates": [ { "allele": "T", "end": 488, "referenceAllele": "G", "start": 487 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "ENST00000690785.1:n.488G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS832874" }, { "coordinates": [ { "allele": "T", "end": 259, "referenceAllele": "G", "start": 258 } ], "gene": "http://reg.genome.network/gene/GN017063", 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}, "referenceSequence": "http://reg.genome.network/refseq/RS834305" }, { "coordinates": [ { "allele": "T", "end": 485, "referenceAllele": "G", "start": 484 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "ENST00000264158.13:c.469G>T" ], "proteinEffect": { "hgvs": "ENSP00000264158.8:p.Gly157Ter", "hgvsWellDefined": 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"ENSP00000264158.7:p.Gly157_Phe981delinsAsnThrGlyCysGlnValProLeuPheValGlnIleHisHisLysTrpArgArgMetTyrValGlyGluCysGlnGlyProGlyValArgThrAspPheGluMetValHisLeuArgLysValProAsnGlnTyrThrHisLeuSerGlyLeuLeuAspIlePheLysSerLysIleGlyCysProLeuThrProLeuProProValSerIleAlaIleArgPheThrTyrValLeuGlnAspTrpGlnGlnTyrPheTrpProGlnGlnProProAspIleAspAlaLeuValGlyGlyGluValGlyGlyLeuGluPheGlyLysLeuProPheGlyAlaCysGluAspProIleSerGluLeuHisLeuAlaThrThrTrpProHisLeuThrGluGlyIleIleValAspAsnAspValTyrSerAspLeuAspProIleGlnAlaProHisTrpSerValArgValArgLysAlaGluAsnProGlnCysLeuLeuGlyAspPheValThrGluPhePheLysIleCysArgArgLysGluSerThrAspGluIleLeuGlyArgSerAlaPheGluGluGluGlyLysGluThrAlaAspIleThrHisAlaLeuSerLysLeuThrGluProAlaSerValProIleHisLysLeuSerValSerAsnMetValHisThrAlaLysLysLysIleArgLysHisArgGlyValGluGluSerProLeuAsnAsnAspValLeuAsnThrIleLeuLeuPheLeuPheProAspAlaValSerGluLysProLeuAspGlyThrThrSerThrAspAsnAsnAsnProProSerGluSerGluAspTyrAsnLeuTyrAsnGlnPheLysSerAlaProSerAspSerLeuThrTyrLysLeuAlaLeuCysLeuCysMetIleAsnPheTyrHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaGlyAlaPheSerSerAspThrSerPhePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS251429" }, { "coordinates": [ { "allele": "T", "end": 479, "referenceAllele": "G", "start": 478 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "ENST00000442034.5:c.469G>T" ], "proteinEffect": { "hgvs": "ENSP00000411418.1:p.Gly157Ter", "hgvsWellDefined": "ENSP00000411418.1:p.Gly157_Phe988delinsAsnThrGlyCysGlnValProLeuPheValGlnIleHisHisLysTrpArgArgMetTyrValGlyGluCysGlnGlyProGlyValArgThrAspPheGluMetValHisLeuArgLysValProAsnGlnTyrThrHisLeuSerGlyLeuLeuAspIlePheLysSerLysIleGlyCysProLeuThrProLeuProProValSerIleAlaIleArgPheThrTyrValLeuGlnAspTrpGlnGlnTyrPheTrpProGlnGlnProProAspIleAspAlaLeuValGlyGlyGluValGlyGlyLeuGluPheGlyLysLeuProPheGlyAlaCysGluAspProIleSerGluLeuHisLeuAlaThrThrTrpProHisLeuThrGluGlyIleIleValAspAsnAspValTyrSerAspLeuAspProIleGlnAlaProHisTrpSerValArgValArgLysAlaGluAsnProGlnCysLeuLeuGlyAspPheValThrGluPhePheLysIleCysArgArgLysGluSerThrAspGluIleLeuGlyArgSerAlaPheGluGluGluGlyLysGluThrAlaAspIleThrHisAlaLeuSerLysLeuThrGluProAlaSerValProIleHisLysLeuSerValSerAsnMetValHisThrAlaLysLysLysIleArgLysHisArgGlyValGluGluSerProLeuAsnAsnAspValLeuAsnThrIleLeuLeuPheLeuPheProAspAlaValSerGluLysProLeuAspGlyThrThrSerThrAspAsnAsnAsnProProSerGluSerGluAspTyrAsnLeuTyrAsnGlnPheLysSerAlaProSerAspSerLeuThrTyrLysLeuAlaLeuCysLeuCysMetIleAsnPheTyrHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgLeuThrGluSerSerAspGluAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaGlyAlaPheSerSerAspThrSerPhePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS296694" }, { "coordinates": [ { "allele": "T", "end": 538, "referenceAllele": "G", "start": 537 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "ENST00000487003.5:n.538G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS325672" }, { "coordinates": [ { "allele": "T", "end": 337, "referenceAllele": "G", "start": 336 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "ENST00000539493.2:c.337G>T" ], "proteinEffect": { "hgvs": "ENSP00000444306.1:p.Gly113Ter", "hgvsWellDefined": "ENSP00000444306.1:p.Gly113_Val935delinsAsnThrGlyCysGlnValProLeuPheValGlnIleHisHisLysTrpArgArgMetTyrValGlyGluCysGlnGlyProGlyValArgThrAspPheGluMetValHisLeuArgLysValProAsnGlnTyrThrHisLeuSerGlyLeuLeuAspIlePheLysSerLysIleGlyCysProLeuThrProLeuProProValSerIleAlaIleArgPheThrTyrValLeuGlnAspTrpGlnGlnTyrPheTrpProGlnGlnProProAspIleAspAlaLeuValGlyGlyGluValGlyGlyLeuGluPheGlyLysLeuProPheGlyAlaCysGluAspProIleSerGluLeuHisLeuAlaThrThrTrpProHisLeuThrGluGlyIleIleValAspAsnAspValTyrSerAspLeuAspProIleGlnAlaProHisTrpSerValArgValArgLysAlaGluAsnProGlnCysLeuLeuGlyAspPheValThrGluPhePheLysIleCysArgArgLysGluSerThrAspGluIleLeuGlyArgSerAlaPheGluGluGluGlyLysGluThrAlaAspIleThrHisAlaLeuSerLysLeuThrGluProAlaSerValProIleHisLysLeuSerValSerAsnMetValHisThrAlaLysLysLysIleArgLysHisArgGlyValGluGluSerProLeuAsnAsnAspValLeuAsnThrIleLeuLeuPheLeuPheProAspAlaValSerGluLysProLeuAspGlyThrThrSerThrAspAsnAsnAsnProProSerGluSerGluAspTyrAsnLeuTyrAsnGlnPheLysSerAlaProSerAspSerLeuThrTyrLysLeuAlaLeuCysLeuCysMetIleAsnPheTyrHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaValLysIleIleAspGlyAspValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS361888" }, { "@id": "http://reg.genome.network/allele/PA2826065018", "coordinates": [ { "allele": "T", "end": 512, "referenceAllele": "G", "start": 511 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "NM_001172435.1:c.469G>T" ], "proteinEffect": { "hgvs": "NP_001165906.1:p.Gly157Ter", "hgvsWellDefined": "NP_001165906.1:p.Gly157_Phe988delinsAsnThrGlyCysGlnValProLeuPheValGlnIleHisHisLysTrpArgArgMetTyrValGlyGluCysGlnGlyProGlyValArgThrAspPheGluMetValHisLeuArgLysValProAsnGlnTyrThrHisLeuSerGlyLeuLeuAspIlePheLysSerLysIleGlyCysProLeuThrProLeuProProValSerIleAlaIleArgPheThrTyrValLeuGlnAspTrpGlnGlnTyrPheTrpProGlnGlnProProAspIleAspAlaLeuValGlyGlyGluValGlyGlyLeuGluPheGlyLysLeuProPheGlyAlaCysGluAspProIleSerGluLeuHisLeuAlaThrThrTrpProHisLeuThrGluGlyIleIleValAspAsnAspValTyrSerAspLeuAspProIleGlnAlaProHisTrpSerValArgValArgLysAlaGluAsnProGlnCysLeuLeuGlyAspPheValThrGluPhePheLysIleCysArgArgLysGluSerThrAspGluIleLeuGlyArgSerAlaPheGluGluGluGlyLysGluThrAlaAspIleThrHisAlaLeuSerLysLeuThrGluProAlaSerValProIleHisLysLeuSerValSerAsnMetValHisThrAlaLysLysLysIleArgLysHisArgGlyValGluGluSerProLeuAsnAsnAspValLeuAsnThrIleLeuLeuPheLeuPheProAspAlaValSerGluLysProLeuAspGlyThrThrSerThrAspAsnAsnAsnProProSerGluSerGluAspTyrAsnLeuTyrAsnGlnPheLysSerAlaProSerAspSerLeuThrTyrLysLeuAlaLeuCysLeuCysMetIleAsnPheTyrHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgLeuThrGluSerSerAspGluAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaGlyAlaPheSerSerAspThrSerPhePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS015463" }, { "@id": "http://reg.genome.network/allele/PA658830513", "coordinates": [ { "allele": "T", "end": 512, "referenceAllele": "G", "start": 511 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "NM_012233.2:c.469G>T" ], "proteinEffect": { "hgvs": "NP_036365.1:p.Gly157Ter", "hgvsWellDefined": "NP_036365.1:p.Gly157_Phe981delinsAsnThrGlyCysGlnValProLeuPheValGlnIleHisHisLysTrpArgArgMetTyrValGlyGluCysGlnGlyProGlyValArgThrAspPheGluMetValHisLeuArgLysValProAsnGlnTyrThrHisLeuSerGlyLeuLeuAspIlePheLysSerLysIleGlyCysProLeuThrProLeuProProValSerIleAlaIleArgPheThrTyrValLeuGlnAspTrpGlnGlnTyrPheTrpProGlnGlnProProAspIleAspAlaLeuValGlyGlyGluValGlyGlyLeuGluPheGlyLysLeuProPheGlyAlaCysGluAspProIleSerGluLeuHisLeuAlaThrThrTrpProHisLeuThrGluGlyIleIleValAspAsnAspValTyrSerAspLeuAspProIleGlnAlaProHisTrpSerValArgValArgLysAlaGluAsnProGlnCysLeuLeuGlyAspPheValThrGluPhePheLysIleCysArgArgLysGluSerThrAspGluIleLeuGlyArgSerAlaPheGluGluGluGlyLysGluThrAlaAspIleThrHisAlaLeuSerLysLeuThrGluProAlaSerValProIleHisLysLeuSerValSerAsnMetValHisThrAlaLysLysLysIleArgLysHisArgGlyValGluGluSerProLeuAsnAsnAspValLeuAsnThrIleLeuLeuPheLeuPheProAspAlaValSerGluLysProLeuAspGlyThrThrSerThrAspAsnAsnAsnProProSerGluSerGluAspTyrAsnLeuTyrAsnGlnPheLysSerAlaProSerAspSerLeuThrTyrLysLeuAlaLeuCysLeuCysMetIleAsnPheTyrHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaGlyAlaPheSerSerAspThrSerPhePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032418" }, { "coordinates": [ { "allele": "T", "end": 512, "referenceAllele": "G", "start": 511 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "XM_011510822.1:c.469G>T" ], "proteinEffect": { "hgvs": "XP_011509124.1:p.Gly157Ter", "hgvsWellDefined": "XP_011509124.1:p.Gly157_Pro1031delinsAsnThrGlyCysGlnValProLeuPheValGlnIleHisHisLysTrpArgArgMetTyrValGlyGluCysGlnGlyProGlyValArgThrAspPheGluMetValHisLeuArgLysValProAsnGlnTyrThrHisLeuSerGlyLeuLeuAspIlePheLysSerLysIleGlyCysProLeuThrProLeuProProValSerIleAlaIleArgPheThrTyrValLeuGlnAspTrpGlnGlnTyrPheTrpProGlnGlnProProAspIleAspAlaLeuValGlyGlyGluValGlyGlyLeuGluPheGlyLysLeuProPheGlyAlaCysGluAspProIleSerGluLeuHisLeuAlaThrThrTrpProHisLeuThrGluGlyIleIleValAspAsnAspValTyrSerAspLeuAspProIleGlnAlaProHisTrpSerValArgValArgLysAlaGluAsnProGlnCysLeuLeuGlyAspPheValThrGluPhePheLysIleCysArgArgLysGluSerThrAspGluIleLeuGlyArgSerAlaPheGluGluGluGlyLysGluThrAlaAspIleThrHisAlaLeuSerLysLeuThrGluProAlaSerValProIleHisLysLeuSerValSerAsnMetValHisThrAlaLysLysLysIleArgLysHisArgGlyValGluGluSerProLeuAsnAsnAspValLeuAsnThrIleLeuLeuPheLeuPheProAspAlaValSerGluLysProLeuAspGlyThrThrSerThrAspAsnAsnAsnProProSerGluSerGluAspTyrAsnLeuTyrAsnGlnPheLysSerAlaProSerAspSerLeuThrTyrLysLeuAlaLeuCysLeuCysMetIleAsnPheTyrHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgLeuThrGluSerSerAspGluAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaAlaProGlnValCysProGlyArgGlnLeuLeuProGlyAlaGlyIleGluAlaAsnLeuGlnGluLysProThrHisSerArgCysValGluAlaAlaGlyArgAsnProAlaArgIleGlnLeuGlyCysAsnGlyAsnAsnAlaThrAsnAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078083" }, { "coordinates": [ { "allele": "T", "end": 512, "referenceAllele": "G", "start": 511 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "XM_011510823.1:c.469G>T" ], "proteinEffect": { "hgvs": "XP_011509125.1:p.Gly157Ter", "hgvsWellDefined": "XP_011509125.1:p.Gly157_Pro1024delinsAsnThrGlyCysGlnValProLeuPheValGlnIleHisHisLysTrpArgArgMetTyrValGlyGluCysGlnGlyProGlyValArgThrAspPheGluMetValHisLeuArgLysValProAsnGlnTyrThrHisLeuSerGlyLeuLeuAspIlePheLysSerLysIleGlyCysProLeuThrProLeuProProValSerIleAlaIleArgPheThrTyrValLeuGlnAspTrpGlnGlnTyrPheTrpProGlnGlnProProAspIleAspAlaLeuValGlyGlyGluValGlyGlyLeuGluPheGlyLysLeuProPheGlyAlaCysGluAspProIleSerGluLeuHisLeuAlaThrThrTrpProHisLeuThrGluGlyIleIleValAspAsnAspValTyrSerAspLeuAspProIleGlnAlaProHisTrpSerValArgValArgLysAlaGluAsnProGlnCysLeuLeuGlyAspPheValThrGluPhePheLysIleCysArgArgLysGluSerThrAspGluIleLeuGlyArgSerAlaPheGluGluGluGlyLysGluThrAlaAspIleThrHisAlaLeuSerLysLeuThrGluProAlaSerValProIleHisLysLeuSerValSerAsnMetValHisThrAlaLysLysLysIleArgLysHisArgGlyValGluGluSerProLeuAsnAsnAspValLeuAsnThrIleLeuLeuPheLeuPheProAspAlaValSerGluLysProLeuAspGlyThrThrSerThrAspAsnAsnAsnProProSerGluSerGluAspTyrAsnLeuTyrAsnGlnPheLysSerAlaProSerAspSerLeuThrTyrLysLeuAlaLeuCysLeuCysMetIleAsnPheTyrHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaAlaProGlnValCysProGlyArgGlnLeuLeuProGlyAlaGlyIleGluAlaAsnLeuGlnGluLysProThrHisSerArgCysValGluAlaAlaGlyArgAsnProAlaArgIleGlnLeuGlyCysAsnGlyAsnAsnAlaThrAsnAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078084" }, { "coordinates": [ { "allele": "T", "end": 512, "referenceAllele": "G", "start": 511 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "XM_011510824.1:c.469G>T" ], "proteinEffect": { "hgvs": "XP_011509126.1:p.Gly157Ter", "hgvsWellDefined": "XP_011509126.1:p.Gly157_Val986delinsAsnThrGlyCysGlnValProLeuPheValGlnIleHisHisLysTrpArgArgMetTyrValGlyGluCysGlnGlyProGlyValArgThrAspPheGluMetValHisLeuArgLysValProAsnGlnTyrThrHisLeuSerGlyLeuLeuAspIlePheLysSerLysIleGlyCysProLeuThrProLeuProProValSerIleAlaIleArgPheThrTyrValLeuGlnAspTrpGlnGlnTyrPheTrpProGlnGlnProProAspIleAspAlaLeuValGlyGlyGluValGlyGlyLeuGluPheGlyLysLeuProPheGlyAlaCysGluAspProIleSerGluLeuHisLeuAlaThrThrTrpProHisLeuThrGluGlyIleIleValAspAsnAspValTyrSerAspLeuAspProIleGlnAlaProHisTrpSerValArgValArgLysAlaGluAsnProGlnCysLeuLeuGlyAspPheValThrGluPhePheLysIleCysArgArgLysGluSerThrAspGluIleLeuGlyArgSerAlaPheGluGluGluGlyLysGluThrAlaAspIleThrHisAlaLeuSerLysLeuThrGluProAlaSerValProIleHisLysLeuSerValSerAsnMetValHisThrAlaLysLysLysIleArgLysHisArgGlyValGluGluSerProLeuAsnAsnAspValLeuAsnThrIleLeuLeuPheLeuPheProAspAlaValSerGluLysProLeuAspGlyThrThrSerThrAspAsnAsnAsnProProSerGluSerGluAspTyrAsnLeuTyrAsnGlnPheLysSerAlaProSerAspSerLeuThrTyrLysLeuAlaLeuCysLeuCysMetIleAsnPheTyrHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgLeuThrGluSerSerAspGluAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaValLysIleIleAspGlyAspValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078085" }, { "coordinates": [ { "allele": "T", "end": 512, "referenceAllele": "G", "start": 511 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "XM_011510825.1:c.469G>T" ], "proteinEffect": { "hgvs": "XP_011509127.1:p.Gly157Ter", "hgvsWellDefined": "XP_011509127.1:p.Gly157_Val979delinsAsnThrGlyCysGlnValProLeuPheValGlnIleHisHisLysTrpArgArgMetTyrValGlyGluCysGlnGlyProGlyValArgThrAspPheGluMetValHisLeuArgLysValProAsnGlnTyrThrHisLeuSerGlyLeuLeuAspIlePheLysSerLysIleGlyCysProLeuThrProLeuProProValSerIleAlaIleArgPheThrTyrValLeuGlnAspTrpGlnGlnTyrPheTrpProGlnGlnProProAspIleAspAlaLeuValGlyGlyGluValGlyGlyLeuGluPheGlyLysLeuProPheGlyAlaCysGluAspProIleSerGluLeuHisLeuAlaThrThrTrpProHisLeuThrGluGlyIleIleValAspAsnAspValTyrSerAspLeuAspProIleGlnAlaProHisTrpSerValArgValArgLysAlaGluAsnProGlnCysLeuLeuGlyAspPheValThrGluPhePheLysIleCysArgArgLysGluSerThrAspGluIleLeuGlyArgSerAlaPheGluGluGluGlyLysGluThrAlaAspIleThrHisAlaLeuSerLysLeuThrGluProAlaSerValProIleHisLysLeuSerValSerAsnMetValHisThrAlaLysLysLysIleArgLysHisArgGlyValGluGluSerProLeuAsnAsnAspValLeuAsnThrIleLeuLeuPheLeuPheProAspAlaValSerGluLysProLeuAspGlyThrThrSerThrAspAsnAsnAsnProProSerGluSerGluAspTyrAsnLeuTyrAsnGlnPheLysSerAlaProSerAspSerLeuThrTyrLysLeuAlaLeuCysLeuCysMetIleAsnPheTyrHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaValLysIleIleAspGlyAspValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078086" }, { "coordinates": [ { "allele": "T", "end": 496, "referenceAllele": "G", "start": 495 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "XM_011510823.3:c.469G>T" ], "proteinEffect": { "hgvs": "XP_011509125.1:p.Gly157Ter", "hgvsWellDefined": "XP_011509125.1:p.Gly157_Pro1024delinsAsnThrGlyCysGlnValProLeuPheValGlnIleHisHisLysTrpArgArgMetTyrValGlyGluCysGlnGlyProGlyValArgThrAspPheGluMetValHisLeuArgLysValProAsnGlnTyrThrHisLeuSerGlyLeuLeuAspIlePheLysSerLysIleGlyCysProLeuThrProLeuProProValSerIleAlaIleArgPheThrTyrValLeuGlnAspTrpGlnGlnTyrPheTrpProGlnGlnProProAspIleAspAlaLeuValGlyGlyGluValGlyGlyLeuGluPheGlyLysLeuProPheGlyAlaCysGluAspProIleSerGluLeuHisLeuAlaThrThrTrpProHisLeuThrGluGlyIleIleValAspAsnAspValTyrSerAspLeuAspProIleGlnAlaProHisTrpSerValArgValArgLysAlaGluAsnProGlnCysLeuLeuGlyAspPheValThrGluPhePheLysIleCysArgArgLysGluSerThrAspGluIleLeuGlyArgSerAlaPheGluGluGluGlyLysGluThrAlaAspIleThrHisAlaLeuSerLysLeuThrGluProAlaSerValProIleHisLysLeuSerValSerAsnMetValHisThrAlaLysLysLysIleArgLysHisArgGlyValGluGluSerProLeuAsnAsnAspValLeuAsnThrIleLeuLeuPheLeuPheProAspAlaValSerGluLysProLeuAspGlyThrThrSerThrAspAsnAsnAsnProProSerGluSerGluAspTyrAsnLeuTyrAsnGlnPheLysSerAlaProSerAspSerLeuThrTyrLysLeuAlaLeuCysLeuCysMetIleAsnPheTyrHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaAlaProGlnValCysProGlyArgGlnLeuLeuProGlyAlaGlyIleGluAlaAsnLeuGlnGluLysProThrHisSerArgCysValGluAlaAlaGlyArgAsnProAlaArgIleGlnLeuGlyCysAsnGlyAsnAsnAlaThrAsnAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541905" }, { "coordinates": [ { "allele": "T", "end": 496, "referenceAllele": "G", "start": 495 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "XM_011510825.3:c.469G>T" ], "proteinEffect": { "hgvs": "XP_011509127.1:p.Gly157Ter", "hgvsWellDefined": "XP_011509127.1:p.Gly157_Val979delinsAsnThrGlyCysGlnValProLeuPheValGlnIleHisHisLysTrpArgArgMetTyrValGlyGluCysGlnGlyProGlyValArgThrAspPheGluMetValHisLeuArgLysValProAsnGlnTyrThrHisLeuSerGlyLeuLeuAspIlePheLysSerLysIleGlyCysProLeuThrProLeuProProValSerIleAlaIleArgPheThrTyrValLeuGlnAspTrpGlnGlnTyrPheTrpProGlnGlnProProAspIleAspAlaLeuValGlyGlyGluValGlyGlyLeuGluPheGlyLysLeuProPheGlyAlaCysGluAspProIleSerGluLeuHisLeuAlaThrThrTrpProHisLeuThrGluGlyIleIleValAspAsnAspValTyrSerAspLeuAspProIleGlnAlaProHisTrpSerValArgValArgLysAlaGluAsnProGlnCysLeuLeuGlyAspPheValThrGluPhePheLysIleCysArgArgLysGluSerThrAspGluIleLeuGlyArgSerAlaPheGluGluGluGlyLysGluThrAlaAspIleThrHisAlaLeuSerLysLeuThrGluProAlaSerValProIleHisLysLeuSerValSerAsnMetValHisThrAlaLysLysLysIleArgLysHisArgGlyValGluGluSerProLeuAsnAsnAspValLeuAsnThrIleLeuLeuPheLeuPheProAspAlaValSerGluLysProLeuAspGlyThrThrSerThrAspAsnAsnAsnProProSerGluSerGluAspTyrAsnLeuTyrAsnGlnPheLysSerAlaProSerAspSerLeuThrTyrLysLeuAlaLeuCysLeuCysMetIleAsnPheTyrHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaValLysIleIleAspGlyAspValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541906" }, { "coordinates": [ { "allele": "T", "end": 496, "referenceAllele": "G", "start": 495 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "XR_001738674.2:n.496G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS589149" }, { "@id": "http://reg.genome.network/allele/PA2826065018", "coordinates": [ { "allele": "T", "end": 485, "referenceAllele": "G", "start": 484 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "NM_001172435.2:c.469G>T" ], "proteinEffect": { "hgvs": "NP_001165906.1:p.Gly157Ter", "hgvsWellDefined": "NP_001165906.1:p.Gly157_Phe988delinsAsnThrGlyCysGlnValProLeuPheValGlnIleHisHisLysTrpArgArgMetTyrValGlyGluCysGlnGlyProGlyValArgThrAspPheGluMetValHisLeuArgLysValProAsnGlnTyrThrHisLeuSerGlyLeuLeuAspIlePheLysSerLysIleGlyCysProLeuThrProLeuProProValSerIleAlaIleArgPheThrTyrValLeuGlnAspTrpGlnGlnTyrPheTrpProGlnGlnProProAspIleAspAlaLeuValGlyGlyGluValGlyGlyLeuGluPheGlyLysLeuProPheGlyAlaCysGluAspProIleSerGluLeuHisLeuAlaThrThrTrpProHisLeuThrGluGlyIleIleValAspAsnAspValTyrSerAspLeuAspProIleGlnAlaProHisTrpSerValArgValArgLysAlaGluAsnProGlnCysLeuLeuGlyAspPheValThrGluPhePheLysIleCysArgArgLysGluSerThrAspGluIleLeuGlyArgSerAlaPheGluGluGluGlyLysGluThrAlaAspIleThrHisAlaLeuSerLysLeuThrGluProAlaSerValProIleHisLysLeuSerValSerAsnMetValHisThrAlaLysLysLysIleArgLysHisArgGlyValGluGluSerProLeuAsnAsnAspValLeuAsnThrIleLeuLeuPheLeuPheProAspAlaValSerGluLysProLeuAspGlyThrThrSerThrAspAsnAsnAsnProProSerGluSerGluAspTyrAsnLeuTyrAsnGlnPheLysSerAlaProSerAspSerLeuThrTyrLysLeuAlaLeuCysLeuCysMetIleAsnPheTyrHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgLeuThrGluSerSerAspGluAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaGlyAlaPheSerSerAspThrSerPhePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678754" }, { "@id": "http://reg.genome.network/allele/PA658830513", "coordinates": [ { "allele": "T", "end": 485, "referenceAllele": "G", "start": 484 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "NM_012233.3:c.469G>T" ], "proteinEffect": { "hgvs": "NP_036365.1:p.Gly157Ter", "hgvsWellDefined": "NP_036365.1:p.Gly157_Phe981delinsAsnThrGlyCysGlnValProLeuPheValGlnIleHisHisLysTrpArgArgMetTyrValGlyGluCysGlnGlyProGlyValArgThrAspPheGluMetValHisLeuArgLysValProAsnGlnTyrThrHisLeuSerGlyLeuLeuAspIlePheLysSerLysIleGlyCysProLeuThrProLeuProProValSerIleAlaIleArgPheThrTyrValLeuGlnAspTrpGlnGlnTyrPheTrpProGlnGlnProProAspIleAspAlaLeuValGlyGlyGluValGlyGlyLeuGluPheGlyLysLeuProPheGlyAlaCysGluAspProIleSerGluLeuHisLeuAlaThrThrTrpProHisLeuThrGluGlyIleIleValAspAsnAspValTyrSerAspLeuAspProIleGlnAlaProHisTrpSerValArgValArgLysAlaGluAsnProGlnCysLeuLeuGlyAspPheValThrGluPhePheLysIleCysArgArgLysGluSerThrAspGluIleLeuGlyArgSerAlaPheGluGluGluGlyLysGluThrAlaAspIleThrHisAlaLeuSerLysLeuThrGluProAlaSerValProIleHisLysLeuSerValSerAsnMetValHisThrAlaLysLysLysIleArgLysHisArgGlyValGluGluSerProLeuAsnAsnAspValLeuAsnThrIleLeuLeuPheLeuPheProAspAlaValSerGluLysProLeuAspGlyThrThrSerThrAspAsnAsnAsnProProSerGluSerGluAspTyrAsnLeuTyrAsnGlnPheLysSerAlaProSerAspSerLeuThrTyrLysLeuAlaLeuCysLeuCysMetIleAsnPheTyrHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaGlyAlaPheSerSerAspThrSerPhePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697025", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000264158.13:c.469G>T" }, "RefSeq": { "hgvs": "NM_012233.3:c.469G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000264158.8:p.Gly157Ter" }, "RefSeq": { "hgvs": "NP_036365.1:p.Gly157Ter" } } } } ], "type": "nucleotide" }