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          "RefSeq": {
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          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1072,
          "referenceAllele": "C",
          "start": 1071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NM_001399969.1:c.328C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001386898.1:p.Arg110Ter",
        "hgvsWellDefined": "NP_001386898.1:p.Arg110_Lys301delinsGluGluLeuLysProIleAlaPheAlaArgGlyIleLysLeuSerPheMetProPhePheLeuLysAlaAlaSerLeuGlyLeuLeuGlnPheProIleLeuAsnAlaSerValAspGluAsnCysGlnAsnIleThrTyrLysAlaSerHisAsnIleGlyIleAlaMetAspThrGluGlnGlyLeuIleValProAsnValLysAsnValGlnIleCysSerIlePheAspIleAlaThrGluLeuAsnArgLeuGlnLysLeuGlySerValSerGlnLeuSerThrThrAspLeuThrGlyGlyThrPheThrLeuSerAsnIleGlySerIleGlyGlyThrPheAlaLysProValIleMetProProGluValAlaIleGlyAlaLeuGlySerIleLysAlaIleProArgPheAsnGlnLysGlyGluValTyrLysAlaGlnIleMetAsnValSerTrpSerAlaAspHisArgValIleAspGlyAlaThrMetSerArgPheSerAsnLeuTrpLysSerTyrLeuGluAsnProAlaPheMetLeuLeuAspLeuLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783390"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 945,
          "referenceAllele": "C",
          "start": 944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NM_001399972.1:c.328C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001386901.1:p.Arg110Ter",
        "hgvsWellDefined": "NP_001386901.1:p.Arg110_Lys301delinsGluGluLeuLysProIleAlaPheAlaArgGlyIleLysLeuSerPheMetProPhePheLeuLysAlaAlaSerLeuGlyLeuLeuGlnPheProIleLeuAsnAlaSerValAspGluAsnCysGlnAsnIleThrTyrLysAlaSerHisAsnIleGlyIleAlaMetAspThrGluGlnGlyLeuIleValProAsnValLysAsnValGlnIleCysSerIlePheAspIleAlaThrGluLeuAsnArgLeuGlnLysLeuGlySerValSerGlnLeuSerThrThrAspLeuThrGlyGlyThrPheThrLeuSerAsnIleGlySerIleGlyGlyThrPheAlaLysProValIleMetProProGluValAlaIleGlyAlaLeuGlySerIleLysAlaIleProArgPheAsnGlnLysGlyGluValTyrLysAlaGlnIleMetAsnValSerTrpSerAlaAspHisArgValIleAspGlyAlaThrMetSerArgPheSerAsnLeuTrpLysSerTyrLeuGluAsnProAlaPheMetLeuLeuAspLeuLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783393"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 703,
          "referenceAllele": "C",
          "start": 702
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NR_174363.1:n.703C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS784817"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 885,
          "referenceAllele": "C",
          "start": 884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NR_174364.1:n.885C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS784818"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 668,
          "referenceAllele": "C",
          "start": 667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NR_174365.1:n.668C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS784819"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 885,
          "referenceAllele": "C",
          "start": 884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NR_174366.1:n.885C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS784820"
    }
  ],
  "type": "nucleotide"
}