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      "referenceSequence": "http://reg.genome.network/refseq/RS685282"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 460,
          "referenceAllele": "C",
          "start": 459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "NM_001321269.2:c.435del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308198.1:p.Thr146LeufsTer?",
        "hgvsWellDefined": "NP_001308198.1:p.[Thr146_Ala147delinsLeuGlnPro;Ser149_Pro152delinsArgCysLeuHis;Phe154_Val156delinsTrpSerSer;Arg158delinsTrpGln;Ala160_Asn161delinsSerGly;Arg163_Arg164delinsAlaGly;Arg166_Arg170delinsThrGlyGlu;Met172_Gly175delinsTrpArgAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685283"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 460,
          "referenceAllele": "C",
          "start": 459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "NM_001330397.2:c.435del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317326.1:p.Thr146LeufsTer?",
        "hgvsWellDefined": "NP_001317326.1:p.[Thr146_Ala147delinsLeuGlnPro;Ser149_Pro152delinsArgCysLeuHis;Phe154_Val156delinsTrpSerSer;Arg158delinsTrpGln;Ala160_Asn161delinsSerGly;Arg163_Arg164delinsAlaGly;Arg166_Arg170delinsThrGlyGlu;Met172_Gly175delinsTrpArgAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686913"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 460,
          "referenceAllele": "C",
          "start": 459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "NM_017777.4:c.435del"
      ],
      "proteinEffect": {
        "hgvs": "NP_060247.2:p.Thr146LeufsTer?",
        "hgvsWellDefined": "NP_060247.2:p.[Thr146_Ala147delinsLeuGlnPro;Ser149_Pro152delinsArgCysLeuHis;Phe154_Val156delinsTrpSerSer;Arg158delinsTrpGln;Ala160_Asn161delinsSerGly;Arg163_Arg164delinsAlaGly;Arg166_Arg170delinsThrGlyGlu;Met172_Gly175delinsTrpArgAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697873",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393119.7:c.435del"
          },
          "RefSeq": {
            "hgvs": "NM_017777.4:c.435del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376827.2:p.Thr146LeufsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_060247.2:p.Thr146LeufsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}