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  "communityStandardTitle": [
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        "hgvsWellDefined": "ENSP00000264158.7:p.Arg187_Phe981delinsThrAspPheGluMetValHisLeuArgLysValProAsnGlnTyrThrHisLeuSerGlyLeuLeuAspIlePheLysSerLysIleGlyCysProLeuThrProLeuProProValSerIleAlaIleArgPheThrTyrValLeuGlnAspTrpGlnGlnTyrPheTrpProGlnGlnProProAspIleAspAlaLeuValGlyGlyGluValGlyGlyLeuGluPheGlyLysLeuProPheGlyAlaCysGluAspProIleSerGluLeuHisLeuAlaThrThrTrpProHisLeuThrGluGlyIleIleValAspAsnAspValTyrSerAspLeuAspProIleGlnAlaProHisTrpSerValArgValArgLysAlaGluAsnProGlnCysLeuLeuGlyAspPheValThrGluPhePheLysIleCysArgArgLysGluSerThrAspGluIleLeuGlyArgSerAlaPheGluGluGluGlyLysGluThrAlaAspIleThrHisAlaLeuSerLysLeuThrGluProAlaSerValProIleHisLysLeuSerValSerAsnMetValHisThrAlaLysLysLysIleArgLysHisArgGlyValGluGluSerProLeuAsnAsnAspValLeuAsnThrIleLeuLeuPheLeuPheProAspAlaValSerGluLysProLeuAspGlyThrThrSerThrAspAsnAsnAsnProProSerGluSerGluAspTyrAsnLeuTyrAsnGlnPheLysSerAlaProSerAspSerLeuThrTyrLysLeuAlaLeuCysLeuCysMetIleAsnPheTyrHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaGlyAlaPheSerSerAspThrSerPhePheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251429"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 569,
          "referenceAllele": "C",
          "start": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "ENST00000442034.5:c.559C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411418.1:p.Arg187Ter",
        "hgvsWellDefined": "ENSP00000411418.1:p.Arg187_Phe988delinsThrAspPheGluMetValHisLeuArgLysValProAsnGlnTyrThrHisLeuSerGlyLeuLeuAspIlePheLysSerLysIleGlyCysProLeuThrProLeuProProValSerIleAlaIleArgPheThrTyrValLeuGlnAspTrpGlnGlnTyrPheTrpProGlnGlnProProAspIleAspAlaLeuValGlyGlyGluValGlyGlyLeuGluPheGlyLysLeuProPheGlyAlaCysGluAspProIleSerGluLeuHisLeuAlaThrThrTrpProHisLeuThrGluGlyIleIleValAspAsnAspValTyrSerAspLeuAspProIleGlnAlaProHisTrpSerValArgValArgLysAlaGluAsnProGlnCysLeuLeuGlyAspPheValThrGluPhePheLysIleCysArgArgLysGluSerThrAspGluIleLeuGlyArgSerAlaPheGluGluGluGlyLysGluThrAlaAspIleThrHisAlaLeuSerLysLeuThrGluProAlaSerValProIleHisLysLeuSerValSerAsnMetValHisThrAlaLysLysLysIleArgLysHisArgGlyValGluGluSerProLeuAsnAsnAspValLeuAsnThrIleLeuLeuPheLeuPheProAspAlaValSerGluLysProLeuAspGlyThrThrSerThrAspAsnAsnAsnProProSerGluSerGluAspTyrAsnLeuTyrAsnGlnPheLysSerAlaProSerAspSerLeuThrTyrLysLeuAlaLeuCysLeuCysMetIleAsnPheTyrHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgLeuThrGluSerSerAspGluAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaGlyAlaPheSerSerAspThrSerPhePheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296694"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 628,
          "referenceAllele": "C",
          "start": 627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "ENST00000487003.5:n.628C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325672"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 427,
          "referenceAllele": "C",
          "start": 426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "ENST00000539493.2:c.427C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444306.1:p.Arg143Ter",
        "hgvsWellDefined": "ENSP00000444306.1:p.Arg143_Val935delinsThrAspPheGluMetValHisLeuArgLysValProAsnGlnTyrThrHisLeuSerGlyLeuLeuAspIlePheLysSerLysIleGlyCysProLeuThrProLeuProProValSerIleAlaIleArgPheThrTyrValLeuGlnAspTrpGlnGlnTyrPheTrpProGlnGlnProProAspIleAspAlaLeuValGlyGlyGluValGlyGlyLeuGluPheGlyLysLeuProPheGlyAlaCysGluAspProIleSerGluLeuHisLeuAlaThrThrTrpProHisLeuThrGluGlyIleIleValAspAsnAspValTyrSerAspLeuAspProIleGlnAlaProHisTrpSerValArgValArgLysAlaGluAsnProGlnCysLeuLeuGlyAspPheValThrGluPhePheLysIleCysArgArgLysGluSerThrAspGluIleLeuGlyArgSerAlaPheGluGluGluGlyLysGluThrAlaAspIleThrHisAlaLeuSerLysLeuThrGluProAlaSerValProIleHisLysLeuSerValSerAsnMetValHisThrAlaLysLysLysIleArgLysHisArgGlyValGluGluSerProLeuAsnAsnAspValLeuAsnThrIleLeuLeuPheLeuPheProAspAlaValSerGluLysProLeuAspGlyThrThrSerThrAspAsnAsnAsnProProSerGluSerGluAspTyrAsnLeuTyrAsnGlnPheLysSerAlaProSerAspSerLeuThrTyrLysLeuAlaLeuCysLeuCysMetIleAsnPheTyrHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaValLysIleIleAspGlyAspValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361888"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826065030",
      "coordinates": [
        {
          "allele": "T",
          "end": 602,
          "referenceAllele": "C",
          "start": 601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "NM_001172435.1:c.559C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165906.1:p.Arg187Ter",
        "hgvsWellDefined": "NP_001165906.1:p.Arg187_Phe988delinsThrAspPheGluMetValHisLeuArgLysValProAsnGlnTyrThrHisLeuSerGlyLeuLeuAspIlePheLysSerLysIleGlyCysProLeuThrProLeuProProValSerIleAlaIleArgPheThrTyrValLeuGlnAspTrpGlnGlnTyrPheTrpProGlnGlnProProAspIleAspAlaLeuValGlyGlyGluValGlyGlyLeuGluPheGlyLysLeuProPheGlyAlaCysGluAspProIleSerGluLeuHisLeuAlaThrThrTrpProHisLeuThrGluGlyIleIleValAspAsnAspValTyrSerAspLeuAspProIleGlnAlaProHisTrpSerValArgValArgLysAlaGluAsnProGlnCysLeuLeuGlyAspPheValThrGluPhePheLysIleCysArgArgLysGluSerThrAspGluIleLeuGlyArgSerAlaPheGluGluGluGlyLysGluThrAlaAspIleThrHisAlaLeuSerLysLeuThrGluProAlaSerValProIleHisLysLeuSerValSerAsnMetValHisThrAlaLysLysLysIleArgLysHisArgGlyValGluGluSerProLeuAsnAsnAspValLeuAsnThrIleLeuLeuPheLeuPheProAspAlaValSerGluLysProLeuAspGlyThrThrSerThrAspAsnAsnAsnProProSerGluSerGluAspTyrAsnLeuTyrAsnGlnPheLysSerAlaProSerAspSerLeuThrTyrLysLeuAlaLeuCysLeuCysMetIleAsnPheTyrHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgLeuThrGluSerSerAspGluAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaGlyAlaPheSerSerAspThrSerPhePheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015463"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916004425",
      "coordinates": [
        {
          "allele": "T",
          "end": 602,
          "referenceAllele": "C",
          "start": 601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "NM_012233.2:c.559C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_036365.1:p.Arg187Ter",
        "hgvsWellDefined": "NP_036365.1:p.Arg187_Phe981delinsThrAspPheGluMetValHisLeuArgLysValProAsnGlnTyrThrHisLeuSerGlyLeuLeuAspIlePheLysSerLysIleGlyCysProLeuThrProLeuProProValSerIleAlaIleArgPheThrTyrValLeuGlnAspTrpGlnGlnTyrPheTrpProGlnGlnProProAspIleAspAlaLeuValGlyGlyGluValGlyGlyLeuGluPheGlyLysLeuProPheGlyAlaCysGluAspProIleSerGluLeuHisLeuAlaThrThrTrpProHisLeuThrGluGlyIleIleValAspAsnAspValTyrSerAspLeuAspProIleGlnAlaProHisTrpSerValArgValArgLysAlaGluAsnProGlnCysLeuLeuGlyAspPheValThrGluPhePheLysIleCysArgArgLysGluSerThrAspGluIleLeuGlyArgSerAlaPheGluGluGluGlyLysGluThrAlaAspIleThrHisAlaLeuSerLysLeuThrGluProAlaSerValProIleHisLysLeuSerValSerAsnMetValHisThrAlaLysLysLysIleArgLysHisArgGlyValGluGluSerProLeuAsnAsnAspValLeuAsnThrIleLeuLeuPheLeuPheProAspAlaValSerGluLysProLeuAspGlyThrThrSerThrAspAsnAsnAsnProProSerGluSerGluAspTyrAsnLeuTyrAsnGlnPheLysSerAlaProSerAspSerLeuThrTyrLysLeuAlaLeuCysLeuCysMetIleAsnPheTyrHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaGlyAlaPheSerSerAspThrSerPhePheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032418"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 602,
          "referenceAllele": "C",
          "start": 601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "XM_011510822.1:c.559C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509124.1:p.Arg187Ter",
        "hgvsWellDefined": "XP_011509124.1:p.Arg187_Pro1031delinsThrAspPheGluMetValHisLeuArgLysValProAsnGlnTyrThrHisLeuSerGlyLeuLeuAspIlePheLysSerLysIleGlyCysProLeuThrProLeuProProValSerIleAlaIleArgPheThrTyrValLeuGlnAspTrpGlnGlnTyrPheTrpProGlnGlnProProAspIleAspAlaLeuValGlyGlyGluValGlyGlyLeuGluPheGlyLysLeuProPheGlyAlaCysGluAspProIleSerGluLeuHisLeuAlaThrThrTrpProHisLeuThrGluGlyIleIleValAspAsnAspValTyrSerAspLeuAspProIleGlnAlaProHisTrpSerValArgValArgLysAlaGluAsnProGlnCysLeuLeuGlyAspPheValThrGluPhePheLysIleCysArgArgLysGluSerThrAspGluIleLeuGlyArgSerAlaPheGluGluGluGlyLysGluThrAlaAspIleThrHisAlaLeuSerLysLeuThrGluProAlaSerValProIleHisLysLeuSerValSerAsnMetValHisThrAlaLysLysLysIleArgLysHisArgGlyValGluGluSerProLeuAsnAsnAspValLeuAsnThrIleLeuLeuPheLeuPheProAspAlaValSerGluLysProLeuAspGlyThrThrSerThrAspAsnAsnAsnProProSerGluSerGluAspTyrAsnLeuTyrAsnGlnPheLysSerAlaProSerAspSerLeuThrTyrLysLeuAlaLeuCysLeuCysMetIleAsnPheTyrHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgLeuThrGluSerSerAspGluAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaAlaProGlnValCysProGlyArgGlnLeuLeuProGlyAlaGlyIleGluAlaAsnLeuGlnGluLysProThrHisSerArgCysValGluAlaAlaGlyArgAsnProAlaArgIleGlnLeuGlyCysAsnGlyAsnAsnAlaThrAsnAsnProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078083"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 602,
          "referenceAllele": "C",
          "start": 601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "XM_011510823.1:c.559C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509125.1:p.Arg187Ter",
        "hgvsWellDefined": "XP_011509125.1:p.Arg187_Pro1024delinsThrAspPheGluMetValHisLeuArgLysValProAsnGlnTyrThrHisLeuSerGlyLeuLeuAspIlePheLysSerLysIleGlyCysProLeuThrProLeuProProValSerIleAlaIleArgPheThrTyrValLeuGlnAspTrpGlnGlnTyrPheTrpProGlnGlnProProAspIleAspAlaLeuValGlyGlyGluValGlyGlyLeuGluPheGlyLysLeuProPheGlyAlaCysGluAspProIleSerGluLeuHisLeuAlaThrThrTrpProHisLeuThrGluGlyIleIleValAspAsnAspValTyrSerAspLeuAspProIleGlnAlaProHisTrpSerValArgValArgLysAlaGluAsnProGlnCysLeuLeuGlyAspPheValThrGluPhePheLysIleCysArgArgLysGluSerThrAspGluIleLeuGlyArgSerAlaPheGluGluGluGlyLysGluThrAlaAspIleThrHisAlaLeuSerLysLeuThrGluProAlaSerValProIleHisLysLeuSerValSerAsnMetValHisThrAlaLysLysLysIleArgLysHisArgGlyValGluGluSerProLeuAsnAsnAspValLeuAsnThrIleLeuLeuPheLeuPheProAspAlaValSerGluLysProLeuAspGlyThrThrSerThrAspAsnAsnAsnProProSerGluSerGluAspTyrAsnLeuTyrAsnGlnPheLysSerAlaProSerAspSerLeuThrTyrLysLeuAlaLeuCysLeuCysMetIleAsnPheTyrHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaAlaProGlnValCysProGlyArgGlnLeuLeuProGlyAlaGlyIleGluAlaAsnLeuGlnGluLysProThrHisSerArgCysValGluAlaAlaGlyArgAsnProAlaArgIleGlnLeuGlyCysAsnGlyAsnAsnAlaThrAsnAsnProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078084"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 602,
          "referenceAllele": "C",
          "start": 601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "XM_011510824.1:c.559C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509126.1:p.Arg187Ter",
        "hgvsWellDefined": "XP_011509126.1:p.Arg187_Val986delinsThrAspPheGluMetValHisLeuArgLysValProAsnGlnTyrThrHisLeuSerGlyLeuLeuAspIlePheLysSerLysIleGlyCysProLeuThrProLeuProProValSerIleAlaIleArgPheThrTyrValLeuGlnAspTrpGlnGlnTyrPheTrpProGlnGlnProProAspIleAspAlaLeuValGlyGlyGluValGlyGlyLeuGluPheGlyLysLeuProPheGlyAlaCysGluAspProIleSerGluLeuHisLeuAlaThrThrTrpProHisLeuThrGluGlyIleIleValAspAsnAspValTyrSerAspLeuAspProIleGlnAlaProHisTrpSerValArgValArgLysAlaGluAsnProGlnCysLeuLeuGlyAspPheValThrGluPhePheLysIleCysArgArgLysGluSerThrAspGluIleLeuGlyArgSerAlaPheGluGluGluGlyLysGluThrAlaAspIleThrHisAlaLeuSerLysLeuThrGluProAlaSerValProIleHisLysLeuSerValSerAsnMetValHisThrAlaLysLysLysIleArgLysHisArgGlyValGluGluSerProLeuAsnAsnAspValLeuAsnThrIleLeuLeuPheLeuPheProAspAlaValSerGluLysProLeuAspGlyThrThrSerThrAspAsnAsnAsnProProSerGluSerGluAspTyrAsnLeuTyrAsnGlnPheLysSerAlaProSerAspSerLeuThrTyrLysLeuAlaLeuCysLeuCysMetIleAsnPheTyrHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgLeuThrGluSerSerAspGluAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaValLysIleIleAspGlyAspValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078085"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 602,
          "referenceAllele": "C",
          "start": 601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "XM_011510825.1:c.559C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509127.1:p.Arg187Ter",
        "hgvsWellDefined": "XP_011509127.1:p.Arg187_Val979delinsThrAspPheGluMetValHisLeuArgLysValProAsnGlnTyrThrHisLeuSerGlyLeuLeuAspIlePheLysSerLysIleGlyCysProLeuThrProLeuProProValSerIleAlaIleArgPheThrTyrValLeuGlnAspTrpGlnGlnTyrPheTrpProGlnGlnProProAspIleAspAlaLeuValGlyGlyGluValGlyGlyLeuGluPheGlyLysLeuProPheGlyAlaCysGluAspProIleSerGluLeuHisLeuAlaThrThrTrpProHisLeuThrGluGlyIleIleValAspAsnAspValTyrSerAspLeuAspProIleGlnAlaProHisTrpSerValArgValArgLysAlaGluAsnProGlnCysLeuLeuGlyAspPheValThrGluPhePheLysIleCysArgArgLysGluSerThrAspGluIleLeuGlyArgSerAlaPheGluGluGluGlyLysGluThrAlaAspIleThrHisAlaLeuSerLysLeuThrGluProAlaSerValProIleHisLysLeuSerValSerAsnMetValHisThrAlaLysLysLysIleArgLysHisArgGlyValGluGluSerProLeuAsnAsnAspValLeuAsnThrIleLeuLeuPheLeuPheProAspAlaValSerGluLysProLeuAspGlyThrThrSerThrAspAsnAsnAsnProProSerGluSerGluAspTyrAsnLeuTyrAsnGlnPheLysSerAlaProSerAspSerLeuThrTyrLysLeuAlaLeuCysLeuCysMetIleAsnPheTyrHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaValLysIleIleAspGlyAspValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078086"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 586,
          "referenceAllele": "C",
          "start": 585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "XM_011510823.3:c.559C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509125.1:p.Arg187Ter",
        "hgvsWellDefined": "XP_011509125.1:p.Arg187_Pro1024delinsThrAspPheGluMetValHisLeuArgLysValProAsnGlnTyrThrHisLeuSerGlyLeuLeuAspIlePheLysSerLysIleGlyCysProLeuThrProLeuProProValSerIleAlaIleArgPheThrTyrValLeuGlnAspTrpGlnGlnTyrPheTrpProGlnGlnProProAspIleAspAlaLeuValGlyGlyGluValGlyGlyLeuGluPheGlyLysLeuProPheGlyAlaCysGluAspProIleSerGluLeuHisLeuAlaThrThrTrpProHisLeuThrGluGlyIleIleValAspAsnAspValTyrSerAspLeuAspProIleGlnAlaProHisTrpSerValArgValArgLysAlaGluAsnProGlnCysLeuLeuGlyAspPheValThrGluPhePheLysIleCysArgArgLysGluSerThrAspGluIleLeuGlyArgSerAlaPheGluGluGluGlyLysGluThrAlaAspIleThrHisAlaLeuSerLysLeuThrGluProAlaSerValProIleHisLysLeuSerValSerAsnMetValHisThrAlaLysLysLysIleArgLysHisArgGlyValGluGluSerProLeuAsnAsnAspValLeuAsnThrIleLeuLeuPheLeuPheProAspAlaValSerGluLysProLeuAspGlyThrThrSerThrAspAsnAsnAsnProProSerGluSerGluAspTyrAsnLeuTyrAsnGlnPheLysSerAlaProSerAspSerLeuThrTyrLysLeuAlaLeuCysLeuCysMetIleAsnPheTyrHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaAlaProGlnValCysProGlyArgGlnLeuLeuProGlyAlaGlyIleGluAlaAsnLeuGlnGluLysProThrHisSerArgCysValGluAlaAlaGlyArgAsnProAlaArgIleGlnLeuGlyCysAsnGlyAsnAsnAlaThrAsnAsnProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541905"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 586,
          "referenceAllele": "C",
          "start": 585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "XM_011510825.3:c.559C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509127.1:p.Arg187Ter",
        "hgvsWellDefined": "XP_011509127.1:p.Arg187_Val979delinsThrAspPheGluMetValHisLeuArgLysValProAsnGlnTyrThrHisLeuSerGlyLeuLeuAspIlePheLysSerLysIleGlyCysProLeuThrProLeuProProValSerIleAlaIleArgPheThrTyrValLeuGlnAspTrpGlnGlnTyrPheTrpProGlnGlnProProAspIleAspAlaLeuValGlyGlyGluValGlyGlyLeuGluPheGlyLysLeuProPheGlyAlaCysGluAspProIleSerGluLeuHisLeuAlaThrThrTrpProHisLeuThrGluGlyIleIleValAspAsnAspValTyrSerAspLeuAspProIleGlnAlaProHisTrpSerValArgValArgLysAlaGluAsnProGlnCysLeuLeuGlyAspPheValThrGluPhePheLysIleCysArgArgLysGluSerThrAspGluIleLeuGlyArgSerAlaPheGluGluGluGlyLysGluThrAlaAspIleThrHisAlaLeuSerLysLeuThrGluProAlaSerValProIleHisLysLeuSerValSerAsnMetValHisThrAlaLysLysLysIleArgLysHisArgGlyValGluGluSerProLeuAsnAsnAspValLeuAsnThrIleLeuLeuPheLeuPheProAspAlaValSerGluLysProLeuAspGlyThrThrSerThrAspAsnAsnAsnProProSerGluSerGluAspTyrAsnLeuTyrAsnGlnPheLysSerAlaProSerAspSerLeuThrTyrLysLeuAlaLeuCysLeuCysMetIleAsnPheTyrHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaValLysIleIleAspGlyAspValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541906"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 586,
          "referenceAllele": "C",
          "start": 585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "XR_001738674.2:n.586C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589149"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826065030",
      "coordinates": [
        {
          "allele": "T",
          "end": 575,
          "referenceAllele": "C",
          "start": 574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "NM_001172435.2:c.559C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165906.1:p.Arg187Ter",
        "hgvsWellDefined": "NP_001165906.1:p.Arg187_Phe988delinsThrAspPheGluMetValHisLeuArgLysValProAsnGlnTyrThrHisLeuSerGlyLeuLeuAspIlePheLysSerLysIleGlyCysProLeuThrProLeuProProValSerIleAlaIleArgPheThrTyrValLeuGlnAspTrpGlnGlnTyrPheTrpProGlnGlnProProAspIleAspAlaLeuValGlyGlyGluValGlyGlyLeuGluPheGlyLysLeuProPheGlyAlaCysGluAspProIleSerGluLeuHisLeuAlaThrThrTrpProHisLeuThrGluGlyIleIleValAspAsnAspValTyrSerAspLeuAspProIleGlnAlaProHisTrpSerValArgValArgLysAlaGluAsnProGlnCysLeuLeuGlyAspPheValThrGluPhePheLysIleCysArgArgLysGluSerThrAspGluIleLeuGlyArgSerAlaPheGluGluGluGlyLysGluThrAlaAspIleThrHisAlaLeuSerLysLeuThrGluProAlaSerValProIleHisLysLeuSerValSerAsnMetValHisThrAlaLysLysLysIleArgLysHisArgGlyValGluGluSerProLeuAsnAsnAspValLeuAsnThrIleLeuLeuPheLeuPheProAspAlaValSerGluLysProLeuAspGlyThrThrSerThrAspAsnAsnAsnProProSerGluSerGluAspTyrAsnLeuTyrAsnGlnPheLysSerAlaProSerAspSerLeuThrTyrLysLeuAlaLeuCysLeuCysMetIleAsnPheTyrHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgLeuThrGluSerSerAspGluAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaGlyAlaPheSerSerAspThrSerPhePheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678754"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916004425",
      "coordinates": [
        {
          "allele": "T",
          "end": 575,
          "referenceAllele": "C",
          "start": 574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "NM_012233.3:c.559C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_036365.1:p.Arg187Ter",
        "hgvsWellDefined": "NP_036365.1:p.Arg187_Phe981delinsThrAspPheGluMetValHisLeuArgLysValProAsnGlnTyrThrHisLeuSerGlyLeuLeuAspIlePheLysSerLysIleGlyCysProLeuThrProLeuProProValSerIleAlaIleArgPheThrTyrValLeuGlnAspTrpGlnGlnTyrPheTrpProGlnGlnProProAspIleAspAlaLeuValGlyGlyGluValGlyGlyLeuGluPheGlyLysLeuProPheGlyAlaCysGluAspProIleSerGluLeuHisLeuAlaThrThrTrpProHisLeuThrGluGlyIleIleValAspAsnAspValTyrSerAspLeuAspProIleGlnAlaProHisTrpSerValArgValArgLysAlaGluAsnProGlnCysLeuLeuGlyAspPheValThrGluPhePheLysIleCysArgArgLysGluSerThrAspGluIleLeuGlyArgSerAlaPheGluGluGluGlyLysGluThrAlaAspIleThrHisAlaLeuSerLysLeuThrGluProAlaSerValProIleHisLysLeuSerValSerAsnMetValHisThrAlaLysLysLysIleArgLysHisArgGlyValGluGluSerProLeuAsnAsnAspValLeuAsnThrIleLeuLeuPheLeuPheProAspAlaValSerGluLysProLeuAspGlyThrThrSerThrAspAsnAsnAsnProProSerGluSerGluAspTyrAsnLeuTyrAsnGlnPheLysSerAlaProSerAspSerLeuThrTyrLysLeuAlaLeuCysLeuCysMetIleAsnPheTyrHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaGlyAlaPheSerSerAspThrSerPhePheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697025",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264158.13:c.559C>T"
          },
          "RefSeq": {
            "hgvs": "NM_012233.3:c.559C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264158.8:p.Arg187Ter"
          },
          "RefSeq": {
            "hgvs": "NP_036365.1:p.Arg187Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}