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        "hgvsWellDefined": "XP_016884818.1:p.Arg1968_Lys2166delinsLeuAsnPheAlaGlnIleHisThrValArgGluGluThrMetMetValMetThrGluAspMetProLeuGluIleSerTyrValProSerThrTyrLeuThrGluIleThrHisValSerGlnAlaLeuLeuGluValGluGlnLeuLeuAsnAlaProAspLeuCysAlaLysAspPheGluAspLeuPheLysGlnGluGluSerLeuLysAsnIleLysAspSerLeuGlnGlnSerSerGlyArgIleAspIleIleHisSerLysLysThrAlaAlaLeuGlnSerAlaThrProValGluArgValLysLeuGlnGluAlaLeuSerGlnLeuAspPheGlnTrpGluLysValAsnLysMetTyrLysAspArgGlnGlyArgPheAspArgSerValGluLysTrpArgArgPheHisTyrAspIleLysIlePheAsnGlnTrpLeuThrGluAlaGluGlnPheLeuArgLysThrGlnIleProGluAsnTrpGluHisAlaLysTyrLysTrpTyrLeuLysIleSerGluArgGlnLysLysGlyAsnCysAlaThrLeuLeuSerPheTrpIleSerLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578893"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6096,
          "referenceAllele": "C",
          "start": 6095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029330.2:c.5899C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884819.1:p.Arg1967Ter",
        "hgvsWellDefined": "XP_016884819.1:p.Arg1968_Ile2160delinsLeuAsnPheAlaGlnIleHisThrValArgGluGluThrMetMetValMetThrGluAspMetProLeuGluIleSerTyrValProSerThrTyrLeuThrGluIleThrHisValSerGlnAlaLeuLeuGluValGluGlnLeuLeuAsnAlaProAspLeuCysAlaLysAspPheGluAspLeuPheLysGlnGluGluSerLeuLysAsnIleLysAspSerLeuGlnGlnSerSerGlyArgIleAspIleIleHisSerLysLysThrAlaAlaLeuGlnSerAlaThrProValGluArgValLysLeuGlnGluAlaLeuSerGlnLeuAspPheGlnTrpGluLysValAsnLysMetTyrLysAspArgGlnGlyArgPheAspArgSerValGluLysTrpArgArgPheHisTyrAspIleLysIlePheAsnGlnTrpLeuThrGluAlaGluGlnPheLeuArgLysThrGlnIleProGluAsnTrpGluHisAlaLysTyrLysTrpTyrLeuLysArgThrGlyAspArgGlyLeuIleLeuLeuAspAspValIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578894"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 672,
          "referenceAllele": "C",
          "start": 671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029331.1:c.73C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884820.1:p.Arg25Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578895"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5998,
          "referenceAllele": "C",
          "start": 5997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.4:c.5875C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.3:p.Arg1959Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674704"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6136,
          "referenceAllele": "C",
          "start": 6135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.3:c.5899C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.2:p.Arg1967Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.5899C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.5899C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Arg1967Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Arg1967Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1895,
          "referenceAllele": "C",
          "start": 1894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004011.4:c.1876C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004002.3:p.Arg626Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2038,
          "referenceAllele": "C",
          "start": 2037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004012.4:c.1867C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004003.2:p.Arg623Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696016"
    }
  ],
  "type": "nucleotide"
}