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        "hgvsWellDefined": "XP_016884819.1:p.Glu1925_Ile2160delinsLeuAsnAlaValArgArgGlnAlaGluGlyLeuSerGluAspGlyAlaAlaMetAlaValGluProThrGlnIleGlnLeuSerLysArgTrpArgGluIleGluSerLysPheAlaGlnPheArgArgLeuAsnPheAlaGlnIleHisThrValArgGluGluThrMetMetValMetThrGluAspMetProLeuGluIleSerTyrValProSerThrTyrLeuThrGluIleThrHisValSerGlnAlaLeuLeuGluValGluGlnLeuLeuAsnAlaProAspLeuCysAlaLysAspPheGluAspLeuPheLysGlnGluGluSerLeuLysAsnIleLysAspSerLeuGlnGlnSerSerGlyArgIleAspIleIleHisSerLysLysThrAlaAlaLeuGlnSerAlaThrProValGluArgValLysLeuGlnGluAlaLeuSerGlnLeuAspPheGlnTrpGluLysValAsnLysMetTyrLysAspArgGlnGlyArgPheAspArgSerValGluLysTrpArgArgPheHisTyrAspIleLysIlePheAsnGlnTrpLeuThrGluAlaGluGlnPheLeuArgLysThrGlnIleProGluAsnTrpGluHisAlaLysTyrLysTrpTyrLeuLysArgThrGlyAspArgGlyLeuIleLeuLeuAspAspValIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578894"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 546,
          "referenceAllele": "G",
          "start": 545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029331.1:c.-54G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884820.1:n.-54G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578895"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5872,
          "referenceAllele": "G",
          "start": 5871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.4:c.5749G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.3:p.Glu1917Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674704"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6010,
          "referenceAllele": "G",
          "start": 6009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.3:c.5773G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.2:p.Glu1925Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.5773G>T"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.5773G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Glu1925Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Glu1925Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1769,
          "referenceAllele": "G",
          "start": 1768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004011.4:c.1750G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004002.3:p.Glu584Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1912,
          "referenceAllele": "G",
          "start": 1911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004012.4:c.1741G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004003.2:p.Glu581Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696016"
    }
  ],
  "type": "nucleotide"
}