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      "proteinEffect": {
        "hgvs": "NP_001269606.1:p.Trp265Ter",
        "hgvsWellDefined": "NP_001269606.1:p.Trp265_Ala1226delinsGlyLeuThrGluIleAsnAlaPheLysAsnMetGlnSerLysValValProLeuAspAsnIlePheArgValCysLysSerGlnProProSerIleTyrAsnAlaSerAlaThrSerValPheHisLysHisCysAlaIleHisValPheProTrpAspGlnGluTyrPheAspValGluProSerPheThrValThrTyrGlyLysLeuValLysLeuLeuSerProLysGlnGlnGlnSerLysThrLysGlnAsnValLeuSerProGluLysGluLysGlnMetSerGluProLeuAspGlnLysLysIleArgSerAspHisAsnGluGluAspGluLysAlaCysValLeuGlnValValTrpAsnGlyLeuGluGluLeuAsnAsnAlaIleLysTyrThrLysAsnValGluValLeuHisLeuGlyLysValTrpIleProAspAspLeuArgLysArgLeuAsnIleGluMetHisAlaValValArgIleThrProValGluValThrProLysIleProArgSerLeuLysLeuGlnProArgGluAsnLeuProLysAspIleSerGluGluAspIleLysThrValPheTyrSerTrpLeuGlnGlnSerThrThrThrMetLeuProLeuValIleSerGluGluGluPheIleLysLeuGluThrLysAspGlyLeuLysGluPheSerLeuSerIleValHisSerTrpGluLysGluLysAspLysAsnIlePheLeuLeuSerProAsnLeuLeuGlnLysThrThrIleGlnValLeuLeuAspProMetValLysGluGluAsnSerGluGluIleAspPheIleLeuProPheLeuLysLeuSerSerLeuGlyGlyValAsnSerLeuGlyValSerSerLeuGluHisIleThrHisSerLeuLeuGlyArgProLeuSerArgGlnLeuMetSerLeuValAlaGlyLeuArgAsnGlyAlaLeuLeuLeuThrGlyGlyLysGlySerGlyLysSerThrLeuAlaLysAlaIleCysLysGluAlaPheAspLysLeuAspAlaHisValGluArgValAspCysLysAlaLeuArgAlaLeuAsnAspMetIleLysGluPheIleSerMetGlySerLeuValAlaLeuIleAlaThrSerGlnSerGlnGlnSerLeuHisProLeuLeuValSerAlaGlnGlyValHisIlePheGlnCysValGlnHisIleGlnProProAsnGlnGluGlnArgCysGluIleLeuCysAsnValIleLysAsnLysLeuAspCysAspIleAsnLysPheThrAspLeuAspLeuGlnHisValAlaLysGluThrGlyGlyPheValAlaArgAspPheThrValLeuValAspArgAlaIleHisSerArgLeuSerArgGlnSerIleSerThrArgGluLysLeuValLeuThrThrLeuAspPheGlnLysAlaLeuArgGlyPheLeuProAlaSerLeuArgSerValAsnLeuHisLysProArgAspLeuGlyTrpAspLysIleGlyGlyLeuHisGluValArgGlnIleLeuMetAspThrIleGlnLeuProAlaLysTyrProGluLeuPheAlaAsnLeuProIleArgGlnArgThrGlyIleLeuLeuTyrGlyProProGlyThrGlyLysThrLeuLeuAlaGlyValIleAlaArgGluSerArgMetAsnPheIleSerValLysGlyProGluLeuLeuSerLysTyrIleGlyAlaSerGluGlnAlaValArgAspIlePheIleArgAlaGlnAlaAlaLysProCysIleLeuPhePheAspGluPheGluSerIleAlaProArgArgGlyHisAspAsnThrGlyValThrAspArgValValAsnGlnLeuLeuThrGlnLeuAspGlyValGluGlyLeuGlnGlyValTyrValLeuAlaAlaThrSerArgProAspLeuIleAspProAlaLeuLeuArgProGlyArgLeuAspLysCysValTyrCysProProProAspGlnValSerArgLeuGluIleLeuAsnValLeuSerAspSerLeuProLeuAlaAspAspValAspLeuGlnHisValAlaSerValThrAspSerPheThrGlyAlaAspLeuLysAlaLeuLeuTyrAsnAlaGlnLeuGluAlaLeuHisGlyMetLeuLeuSerSerGlyLeuGlnAspGlySerSerSerSerAspSerAspLeuSerLeuSerSerMetValPheLeuAsnHisSerSerGlySerAspAspSerAlaGlyAspGlyGluCysGlyLeuAspGlnSerLeuValSerLeuGluMetSerGluIleLeuProAspGluSerLysPheAsnMetTyrArgLeuTyrPheGlySerSerTyrGluSerGluLeuGlyAsnGlyThrSerSerAspLeuSerSerGlnCysLeuSerAlaProSerSerMetThrGlnAspLeuProGlyValProGlyLysAspGlnLeuPheSerGlnProProValLeuArgThrAlaSerGlnGluGlyCysGlnGluLeuThrGlnGluGlnArgAspGlnLeuArgAlaAspIleSerIleIleLysGlyArgTyrArgSerGlnSerGlyGluAspGluSerMetAsnGlnProGlyProIleLysThrArgLeuAlaIleSerGlnSerHisLeuMetThrAlaLeuGlyHisThrArgProSerIleSerGluAspAspTrpLysAsnPheAlaGluLeuTyrGluSerPheGlnAsnProLysArgArgLysAsnGlnSerGlyThrMetPheArgProGlyGlnLysValThrLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681861"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 914,
          "referenceAllele": "G",
          "start": 913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_001282678.2:c.170G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269607.1:p.Trp57Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681862"
    }
  ],
  "type": "nucleotide"
}