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        "hgvs": "XP_016884817.1:p.Glu1782Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578892"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5541,
          "referenceAllele": "G",
          "start": 5540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029329.1:c.5344G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884818.1:p.Glu1782Ter",
        "hgvsWellDefined": "XP_016884818.1:p.Glu1782_Lys2166delinsLeuGluGlnPheAsnSerAspIleGlnLysLeuLeuGluProLeuGluAlaGluIleGlnGlnGlyValAsnLeuLysGluGluAspPheAsnLysAspMetAsnGluAspAsnGluGlyThrValLysGluLeuLeuGlnArgGlyAspAsnLeuGlnGlnArgIleThrAspGluArgLysArgGluGluIleLysIleLysGlnGlnLeuLeuGlnThrLysHisAsnAlaLeuLysAspLeuArgSerGlnArgArgLysLysAlaLeuGluIleSerHisGlnTrpTyrGlnTyrLysArgGlnAlaAspAspLeuLeuLysCysLeuAspAspIleGluLysLysLeuAlaSerLeuProGluProArgAspGluArgLysIleLysGluIleAspArgGluLeuGlnLysLysLysGluGluLeuAsnAlaValArgArgGlnAlaGluGlyLeuSerGluAspGlyAlaAlaMetAlaValGluProThrGlnIleGlnLeuSerLysArgTrpArgGluIleGluSerLysPheAlaGlnPheArgArgLeuAsnPheAlaGlnIleHisThrValArgGluGluThrMetMetValMetThrGluAspMetProLeuGluIleSerTyrValProSerThrTyrLeuThrGluIleThrHisValSerGlnAlaLeuLeuGluValGluGlnLeuLeuAsnAlaProAspLeuCysAlaLysAspPheGluAspLeuPheLysGlnGluGluSerLeuLysAsnIleLysAspSerLeuGlnGlnSerSerGlyArgIleAspIleIleHisSerLysLysThrAlaAlaLeuGlnSerAlaThrProValGluArgValLysLeuGlnGluAlaLeuSerGlnLeuAspPheGlnTrpGluLysValAsnLysMetTyrLysAspArgGlnGlyArgPheAspArgSerValGluLysTrpArgArgPheHisTyrAspIleLysIlePheAsnGlnTrpLeuThrGluAlaGluGlnPheLeuArgLysThrGlnIleProGluAsnTrpGluHisAlaLysTyrLysTrpTyrLeuLysIleSerGluArgGlnLysLysGlyAsnCysAlaThrLeuLeuSerPheTrpIleSerLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578893"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5541,
          "referenceAllele": "G",
          "start": 5540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029330.2:c.5344G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884819.1:p.Glu1782Ter",
        "hgvsWellDefined": "XP_016884819.1:p.Glu1782_Ile2160delinsLeuGluGlnPheAsnSerAspIleGlnLysLeuLeuGluProLeuGluAlaGluIleGlnGlnGlyValAsnLeuLysGluGluAspPheAsnLysAspMetAsnGluAspAsnGluGlyThrValLysGluLeuLeuGlnArgGlyAspAsnLeuGlnGlnArgIleThrAspGluArgLysArgGluGluIleLysIleLysGlnGlnLeuLeuGlnThrLysHisAsnAlaLeuLysAspLeuArgSerGlnArgArgLysLysAlaLeuGluIleSerHisGlnTrpTyrGlnTyrLysArgGlnAlaAspAspLeuLeuLysCysLeuAspAspIleGluLysLysLeuAlaSerLeuProGluProArgAspGluArgLysIleLysGluIleAspArgGluLeuGlnLysLysLysGluGluLeuAsnAlaValArgArgGlnAlaGluGlyLeuSerGluAspGlyAlaAlaMetAlaValGluProThrGlnIleGlnLeuSerLysArgTrpArgGluIleGluSerLysPheAlaGlnPheArgArgLeuAsnPheAlaGlnIleHisThrValArgGluGluThrMetMetValMetThrGluAspMetProLeuGluIleSerTyrValProSerThrTyrLeuThrGluIleThrHisValSerGlnAlaLeuLeuGluValGluGlnLeuLeuAsnAlaProAspLeuCysAlaLysAspPheGluAspLeuPheLysGlnGluGluSerLeuLysAsnIleLysAspSerLeuGlnGlnSerSerGlyArgIleAspIleIleHisSerLysLysThrAlaAlaLeuGlnSerAlaThrProValGluArgValLysLeuGlnGluAlaLeuSerGlnLeuAspPheGlnTrpGluLysValAsnLysMetTyrLysAspArgGlnGlyArgPheAspArgSerValGluLysTrpArgArgPheHisTyrAspIleLysIlePheAsnGlnTrpLeuThrGluAlaGluGlnPheLeuArgLysThrGlnIleProGluAsnTrpGluHisAlaLysTyrLysTrpTyrLeuLysArgThrGlyAspArgGlyLeuIleLeuLeuAspAspValIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578894"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5443,
          "referenceAllele": "G",
          "start": 5442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.4:c.5320G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.3:p.Glu1774Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674704"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5581,
          "referenceAllele": "G",
          "start": 5580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.3:c.5344G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.2:p.Glu1782Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.5344G>T"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.5344G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Glu1782Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Glu1782Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1340,
          "referenceAllele": "G",
          "start": 1339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004011.4:c.1321G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004002.3:p.Glu441Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1483,
          "referenceAllele": "G",
          "start": 1482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004012.4:c.1312G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004003.2:p.Glu438Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696016"
    }
  ],
  "type": "nucleotide"
}