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        "hgvsWellDefined": "NP_001373617.1:p.Gln182_Leu337delinsLysGluAsnGlyThrValThrAlaAlaAsnAlaSerThrLeuAsnAspGlyAlaAlaAlaLeuValLeuMetThrAlaAspAlaAlaLysArgLeuAsnValThrProLeuAlaArgIleValAlaPheAlaAspAlaAlaValGluProIleAspPheProIleAlaProValTyrAlaAlaSerMetValLeuLysAspValGlyLeuLysLysGluAspIleAlaMetTrpGluValAsnGluAlaPheSerLeuValValLeuAlaAsnIleLysMetLeuGluIleAspProGlnLysValAsnIleAsnGlyGlyAlaValSerLeuGlyHisProIleGlyMetSerGlyAlaArgIleValGlyHisLeuThrHisAlaLeuLysGlnGlyGluTyrGlyLeuAlaSerIleCysAsnGlyGlyGlyGlyAlaSerAlaMetLeuIleGlnLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724575"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 840,
          "referenceAllele": "C",
          "start": 839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "NM_001386689.1:c.544C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373618.1:p.Gln182Ter",
        "hgvsWellDefined": "NP_001373618.1:p.Gln182_Leu337delinsLysGluAsnGlyThrValThrAlaAlaAsnAlaSerThrLeuAsnAspGlyAlaAlaAlaLeuValLeuMetThrAlaAspAlaAlaLysArgLeuAsnValThrProLeuAlaArgIleValAlaPheAlaAspAlaAlaValGluProIleAspPheProIleAlaProValTyrAlaAlaSerMetValLeuLysAspValGlyLeuLysLysGluAspIleAlaMetTrpGluValAsnGluAlaPheSerLeuValValLeuAlaAsnIleLysMetLeuGluIleAspProGlnLysValAsnIleAsnGlyGlyAlaValSerLeuGlyHisProIleGlyMetSerGlyAlaArgIleValGlyHisLeuThrHisAlaLeuLysGlnGlyGluTyrGlyLeuAlaSerIleCysAsnGlyGlyGlyGlyAlaSerAlaMetLeuIleGlnLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724576"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 873,
          "referenceAllele": "C",
          "start": 872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "NM_001386690.1:c.544C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373619.1:p.Gln182Ter",
        "hgvsWellDefined": "NP_001373619.1:p.Gln182_Leu337delinsLysGluAsnGlyThrValThrAlaAlaAsnAlaSerThrLeuAsnAspGlyAlaAlaAlaLeuValLeuMetThrAlaAspAlaAlaLysArgLeuAsnValThrProLeuAlaArgIleValAlaPheAlaAspAlaAlaValGluProIleAspPheProIleAlaProValTyrAlaAlaSerMetValLeuLysAspValGlyLeuLysLysGluAspIleAlaMetTrpGluValAsnGluAlaPheSerLeuValValLeuAlaAsnIleLysMetLeuGluIleAspProGlnLysValAsnIleAsnGlyGlyAlaValSerLeuGlyHisProIleGlyMetSerGlyAlaArgIleValGlyHisLeuThrHisAlaLeuLysGlnGlyGluTyrGlyLeuAlaSerIleCysAsnGlyGlyGlyGlyAlaSerAlaMetLeuIleGlnLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724577"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1151,
          "referenceAllele": "C",
          "start": 1150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "NM_001386691.1:c.544C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373620.1:p.Gln182Ter",
        "hgvsWellDefined": "NP_001373620.1:p.Gln182_Leu337delinsLysGluAsnGlyThrValThrAlaAlaAsnAlaSerThrLeuAsnAspGlyAlaAlaAlaLeuValLeuMetThrAlaAspAlaAlaLysArgLeuAsnValThrProLeuAlaArgIleValAlaPheAlaAspAlaAlaValGluProIleAspPheProIleAlaProValTyrAlaAlaSerMetValLeuLysAspValGlyLeuLysLysGluAspIleAlaMetTrpGluValAsnGluAlaPheSerLeuValValLeuAlaAsnIleLysMetLeuGluIleAspProGlnLysValAsnIleAsnGlyGlyAlaValSerLeuGlyHisProIleGlyMetSerGlyAlaArgIleValGlyHisLeuThrHisAlaLeuLysGlnGlyGluTyrGlyLeuAlaSerIleCysAsnGlyGlyGlyGlyAlaSerAlaMetLeuIleGlnLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724578"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 854,
          "referenceAllele": "C",
          "start": 853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "NR_170162.1:n.854C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS732463"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 847,
          "referenceAllele": "C",
          "start": 846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "NR_170163.1:n.847C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS732464"
    }
  ],
  "type": "nucleotide"
}