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        "hgvsWellDefined": "XP_016884818.1:p.Ser1705_Lys2166delinsGluLysLysLysProGlnGlnLysGluAspValLeuLysArgLeuLysAlaGluLeuAsnAspIleArgProLysValAspSerThrArgAspGlnAlaAlaAsnLeuMetAlaAsnArgGlyAspHisCysArgLysLeuValGluProGlnIleSerGluLeuAsnHisArgPheAlaAlaIleSerHisArgIleLysThrGlyLysAlaSerIleProLeuLysGluLeuGluGlnPheAsnSerAspIleGlnLysLeuLeuGluProLeuGluAlaGluIleGlnGlnGlyValAsnLeuLysGluGluAspPheAsnLysAspMetAsnGluAspAsnGluGlyThrValLysGluLeuLeuGlnArgGlyAspAsnLeuGlnGlnArgIleThrAspGluArgLysArgGluGluIleLysIleLysGlnGlnLeuLeuGlnThrLysHisAsnAlaLeuLysAspLeuArgSerGlnArgArgLysLysAlaLeuGluIleSerHisGlnTrpTyrGlnTyrLysArgGlnAlaAspAspLeuLeuLysCysLeuAspAspIleGluLysLysLeuAlaSerLeuProGluProArgAspGluArgLysIleLysGluIleAspArgGluLeuGlnLysLysLysGluGluLeuAsnAlaValArgArgGlnAlaGluGlyLeuSerGluAspGlyAlaAlaMetAlaValGluProThrGlnIleGlnLeuSerLysArgTrpArgGluIleGluSerLysPheAlaGlnPheArgArgLeuAsnPheAlaGlnIleHisThrValArgGluGluThrMetMetValMetThrGluAspMetProLeuGluIleSerTyrValProSerThrTyrLeuThrGluIleThrHisValSerGlnAlaLeuLeuGluValGluGlnLeuLeuAsnAlaProAspLeuCysAlaLysAspPheGluAspLeuPheLysGlnGluGluSerLeuLysAsnIleLysAspSerLeuGlnGlnSerSerGlyArgIleAspIleIleHisSerLysLysThrAlaAlaLeuGlnSerAlaThrProValGluArgValLysLeuGlnGluAlaLeuSerGlnLeuAspPheGlnTrpGluLysValAsnLysMetTyrLysAspArgGlnGlyArgPheAspArgSerValGluLysTrpArgArgPheHisTyrAspIleLysIlePheAsnGlnTrpLeuThrGluAlaGluGlnPheLeuArgLysThrGlnIleProGluAsnTrpGluHisAlaLysTyrLysTrpTyrLeuLysIleSerGluArgGlnLysLysGlyAsnCysAlaThrLeuLeuSerPheTrpIleSerLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578893"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5311,
          "referenceAllele": "C",
          "start": 5310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029330.2:c.5114C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884819.1:p.Ser1705Ter",
        "hgvsWellDefined": "XP_016884819.1:p.Ser1705_Ile2160delinsGluLysLysLysProGlnGlnLysGluAspValLeuLysArgLeuLysAlaGluLeuAsnAspIleArgProLysValAspSerThrArgAspGlnAlaAlaAsnLeuMetAlaAsnArgGlyAspHisCysArgLysLeuValGluProGlnIleSerGluLeuAsnHisArgPheAlaAlaIleSerHisArgIleLysThrGlyLysAlaSerIleProLeuLysGluLeuGluGlnPheAsnSerAspIleGlnLysLeuLeuGluProLeuGluAlaGluIleGlnGlnGlyValAsnLeuLysGluGluAspPheAsnLysAspMetAsnGluAspAsnGluGlyThrValLysGluLeuLeuGlnArgGlyAspAsnLeuGlnGlnArgIleThrAspGluArgLysArgGluGluIleLysIleLysGlnGlnLeuLeuGlnThrLysHisAsnAlaLeuLysAspLeuArgSerGlnArgArgLysLysAlaLeuGluIleSerHisGlnTrpTyrGlnTyrLysArgGlnAlaAspAspLeuLeuLysCysLeuAspAspIleGluLysLysLeuAlaSerLeuProGluProArgAspGluArgLysIleLysGluIleAspArgGluLeuGlnLysLysLysGluGluLeuAsnAlaValArgArgGlnAlaGluGlyLeuSerGluAspGlyAlaAlaMetAlaValGluProThrGlnIleGlnLeuSerLysArgTrpArgGluIleGluSerLysPheAlaGlnPheArgArgLeuAsnPheAlaGlnIleHisThrValArgGluGluThrMetMetValMetThrGluAspMetProLeuGluIleSerTyrValProSerThrTyrLeuThrGluIleThrHisValSerGlnAlaLeuLeuGluValGluGlnLeuLeuAsnAlaProAspLeuCysAlaLysAspPheGluAspLeuPheLysGlnGluGluSerLeuLysAsnIleLysAspSerLeuGlnGlnSerSerGlyArgIleAspIleIleHisSerLysLysThrAlaAlaLeuGlnSerAlaThrProValGluArgValLysLeuGlnGluAlaLeuSerGlnLeuAspPheGlnTrpGluLysValAsnLysMetTyrLysAspArgGlnGlyArgPheAspArgSerValGluLysTrpArgArgPheHisTyrAspIleLysIlePheAsnGlnTrpLeuThrGluAlaGluGlnPheLeuArgLysThrGlnIleProGluAsnTrpGluHisAlaLysTyrLysTrpTyrLeuLysArgThrGlyAspArgGlyLeuIleLeuLeuAspAspValIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578894"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5213,
          "referenceAllele": "C",
          "start": 5212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.4:c.5090C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.3:p.Ser1697Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674704"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5351,
          "referenceAllele": "C",
          "start": 5350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.3:c.5114C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.2:p.Ser1705Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.5114C>G"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.5114C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Ser1705Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Ser1705Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1110,
          "referenceAllele": "C",
          "start": 1109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004011.4:c.1091C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004002.3:p.Ser364Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1253,
          "referenceAllele": "C",
          "start": 1252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004012.4:c.1082C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004003.2:p.Ser361Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696016"
    }
  ],
  "type": "nucleotide"
}