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      "proteinEffect": {
        "hgvs": "NP_001387265.1:p.Arg220Ter",
        "hgvsWellDefined": "NP_001387265.1:p.Arg220_Asn448delinsGlnValAlaLeuArgHisLeuIleHisPheLeuLysGluIleGlyAspGlnLysLeuLeuLeuAspLeuPheArgPheLeuAspArgThrGluGluLeuAlaLeuSerHisTyrArgGluHisLeuAsnIleGlnAspProAspLysArgLysGluPheLeuLysThrCysValGlyLeuProPheSerAlaGluAspSerAlaHisIleGlnAspHisTyrThrLeuLeuGluArgGlnIleIleIleGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysAsnTrpLeuGlyTyrThrLysLysArgAlaProIleGlyPheHisArgValValGluIleLeuHisLysAsnAsnAlaProValGlnIleLeuGlnGluTyrValAsnLeuValGluAspValAspThrLysLeuAsnLeuAlaThrLysPheLysCysHisAspValValIleAspThrTyrArgAspLeuLysAspArgGlnGlnLeuLeuAlaTyrArgSerLysValAspLysGlySerAlaGluGluGluLysIleAspAlaLeuLeuSerSerSerGlnIleArgTrpLysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783688"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 525,
          "referenceAllele": "C",
          "start": 524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020347",
      "geneNCBI_id": 63894,
      "geneSymbol": "VIPAS39",
      "hgvs": [
        "NM_001400337.1:c.418C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001387266.1:p.Arg140Ter",
        "hgvsWellDefined": "NP_001387266.1:p.Arg140_Asn413delinsGlnValAlaLeuArgHisLeuIleHisPheLeuLysGluIleGlyAspGlnLysLeuLeuLeuAspLeuPheArgPheLeuAspArgThrGluGluLeuAlaLeuSerHisTyrArgGluHisLeuAsnIleGlnAspProAspLysArgLysGluPheLeuLysThrCysValGlyLeuProPheSerAlaGluAspSerAlaHisIleGlnAspHisTyrThrLeuLeuGluArgGlnIleIleIleGluAlaAsnAspArgHisLeuGluSerAlaGlyGlnThrGluIlePheArgLysHisProArgLysAlaSerIleLeuAsnMetProLeuValThrThrLeuPheTyrSerCysPheTyrHisTyrThrGluAlaGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysAsnTrpLeuGlyTyrThrLysLysArgAlaProIleGlyPheHisArgValValGluIleLeuHisLysAsnAsnAlaProValGlnIleLeuGlnGluTyrValAsnLeuValGluAspValAspThrLysLeuAsnLeuAlaThrLysPheLysCysHisAspValValIleAspThrTyrArgAspLeuLysAspArgGlnGlnLeuLeuAlaTyrArgSerLysValAspLysGlySerAlaGluGluGluLysIleAspAlaLeuLeuSerSerSerGlnIleArgTrpLysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783689"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 765,
          "referenceAllele": "C",
          "start": 764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020347",
      "geneNCBI_id": 63894,
      "geneSymbol": "VIPAS39",
      "hgvs": [
        "NM_001400338.1:c.658C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001387267.1:p.Arg220Ter",
        "hgvsWellDefined": "NP_001387267.1:p.Arg220_Asn400delinsGlnValAlaLeuArgHisLeuIleHisPheLeuLysGluIleGlyAspGlnLysLeuLeuLeuAspLeuPheSerLeuProPheSerAlaGluAspSerAlaHisIleGlnAspHisTyrThrLeuLeuGluArgGlnIleIleIleGluAlaAsnAspArgHisLeuGluSerAlaGlyGlnThrGluIlePheArgLysHisProArgLysAlaSerIleLeuAsnMetProLeuValThrThrLeuPheTyrSerCysPheTyrHisTyrThrGluAlaGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleLeuGlnGluTyrValAsnLeuValGluAspValAspThrLysLeuAsnLeuAlaThrLysPheLysCysHisAspValValIleAspThrTyrArgAspLeuLysAspArgGlnGlnLeuLeuAlaTyrArgSerLysValAspLysGlySerAlaGluGluGluLysIleAspAlaLeuLeuSerSerSerGlnIleArgTrpLysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783690"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 765,
          "referenceAllele": "C",
          "start": 764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020347",
      "geneNCBI_id": 63894,
      "geneSymbol": "VIPAS39",
      "hgvs": [
        "NM_001400339.1:c.658C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001387268.1:p.Arg220Ter",
        "hgvsWellDefined": "NP_001387268.1:p.Arg220_Asn398delinsGlnValAlaLeuArgHisLeuIleHisPheLeuLysGluIleGlyAspGlnLysLeuLeuLeuAspLeuPheArgPheLeuAspArgThrGluGluLeuAlaGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysAsnTrpLeuGlyTyrThrLysLysArgAlaProIleGlyPheHisArgValValGluIleLeuHisLysAsnAsnAlaProValGlnIleLeuGlnGluTyrValAsnLeuValGluAspValAspThrLysLeuAsnLeuAlaThrLysPheLysCysHisAspValValIleAspThrTyrArgAspLeuLysAspArgGlnGlnLeuLeuAlaTyrArgSerLysValAspLysGlySerAlaGluGluGluLysIleAspAlaLeuLeuSerSerSerGlnIleArgTrpLysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783691"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 765,
          "referenceAllele": "C",
          "start": 764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020347",
      "geneNCBI_id": 63894,
      "geneSymbol": "VIPAS39",
      "hgvs": [
        "NR_174476.1:n.765C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS784919"
    }
  ],
  "type": "nucleotide"
}