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          "start": 1544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NM_001318087.2:c.1420_1421del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305016.1:p.Leu474GlufsTer20",
        "hgvsWellDefined": "NP_001305016.1:p.[Leu474_Arg476delinsGlu;Leu478Ala;Val480_Phe482delinsGlyCysSer;Ala484del;Ser486_Ala487delinsGly;Thr489_Gly492delinsGlnCysAsnTyr;Asn494_Ser497delinsHisArg;Ser500_Thr504del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684426"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1586,
          "referenceAllele": "CT",
          "start": 1584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NM_001318088.2:c.499_500del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305017.1:p.Leu167GlufsTer20",
        "hgvsWellDefined": "NP_001305017.1:p.[Leu167_Arg169delinsGlu;Leu171Ala;Val173_Phe175delinsGlyCysSer;Ala177del;Ser179_Ala180delinsGly;Thr182_Gly185delinsGlnCysAsnTyr;Asn187_Tyr190delinsHis;Val192_Asp196delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684427"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1414,
          "referenceAllele": "CT",
          "start": 1412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NM_001365135.2:c.1288_1289del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352064.1:p.Leu430GlufsTer20",
        "hgvsWellDefined": "NP_001352064.1:p.[Leu430_Arg432delinsGlu;Leu434Ala;Val436_Phe438delinsGlyCysSer;Ala440del;Ser442_Ala443delinsGly;Thr445_Gly448delinsGlnCysAsnTyr;Asn450_Tyr453delinsHis;Val455_Asp459delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690988"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1374,
          "referenceAllele": "CT",
          "start": 1372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NR_027400.3:n.1373_1374del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701945"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 893,
          "referenceAllele": "CT",
          "start": 891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NR_134502.2:n.892_893del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703473"
    }
  ],
  "type": "nucleotide"
}