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      "geneSymbol": "KMT2D",
      "hgvs": [
        "NM_003482.4:c.16154C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003473.3:p.Ser5385Ter",
        "hgvsWellDefined": "NP_003473.3:p.Ser5386_Asn5537delinsGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695846",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301067.12:c.16154C>G"
          },
          "RefSeq": {
            "hgvs": "NM_003482.4:c.16154C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301067.7:p.Ser5385Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003473.3:p.Ser5385Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}