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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578893"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4602,
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_016884819.1:p.Gln1469_Ile2160delinsArgLeuGlnGluSerLysMetIleLeuAspGluValLysMetHisLeuProAlaLeuGluThrLysSerValGluGlnGluValValGlnSerGlnLeuAsnHisCysValAsnLeuTyrLysSerLeuSerGluValLysSerGluValGluMetValIleLysThrGlyArgGlnIleValGlnLysLysGlnThrGluAsnProLysGluLeuAspGluArgValThrAlaLeuLysLeuHisTyrAsnGluLeuGlyAlaLysValThrGluArgLysGlnGlnLeuGluLysCysLeuLysLeuSerArgLysMetArgLysGluMetAsnValLeuThrGluTrpLeuAlaAlaThrAspMetGluLeuThrLysArgSerAlaValGluGlyMetProSerAsnLeuAspSerGluValAlaTrpGlyLysAlaThrGlnLysGluIleGluLysGlnLysValHisLeuLysSerIleThrGluValGlyGluAlaLeuLysThrValLeuGlyLysLysGluThrLeuValGluAspLysLeuSerLeuLeuAsnSerAsnTrpIleAlaValThrSerArgAlaGluGluTrpLeuAsnLeuLeuLeuGluTyrGlnLysHisMetGluThrPheAspGlnAsnValAspHisIleThrLysTrpIleIleGlnAlaAspThrLeuLeuAspGluSerGluLysLysLysProGlnGlnLysGluAspValLeuLysArgLeuLysAlaGluLeuAsnAspIleArgProLysValAspSerThrArgAspGlnAlaAlaAsnLeuMetAlaAsnArgGlyAspHisCysArgLysLeuValGluProGlnIleSerGluLeuAsnHisArgPheAlaAlaIleSerHisArgIleLysThrGlyLysAlaSerIleProLeuLysGluLeuGluGlnPheAsnSerAspIleGlnLysLeuLeuGluProLeuGluAlaGluIleGlnGlnGlyValAsnLeuLysGluGluAspPheAsnLysAspMetAsnGluAspAsnGluGlyThrValLysGluLeuLeuGlnArgGlyAspAsnLeuGlnGlnArgIleThrAspGluArgLysArgGluGluIleLysIleLysGlnGlnLeuLeuGlnThrLysHisAsnAlaLeuLysAspLeuArgSerGlnArgArgLysLysAlaLeuGluIleSerHisGlnTrpTyrGlnTyrLysArgGlnAlaAspAspLeuLeuLysCysLeuAspAspIleGluLysLysLeuAlaSerLeuProGluProArgAspGluArgLysIleLysGluIleAspArgGluLeuGlnLysLysLysGluGluLeuAsnAlaValArgArgGlnAlaGluGlyLeuSerGluAspGlyAlaAlaMetAlaValGluProThrGlnIleGlnLeuSerLysArgTrpArgGluIleGluSerLysPheAlaGlnPheArgArgLeuAsnPheAlaGlnIleHisThrValArgGluGluThrMetMetValMetThrGluAspMetProLeuGluIleSerTyrValProSerThrTyrLeuThrGluIleThrHisValSerGlnAlaLeuLeuGluValGluGlnLeuLeuAsnAlaProAspLeuCysAlaLysAspPheGluAspLeuPheLysGlnGluGluSerLeuLysAsnIleLysAspSerLeuGlnGlnSerSerGlyArgIleAspIleIleHisSerLysLysThrAlaAlaLeuGlnSerAlaThrProValGluArgValLysLeuGlnGluAlaLeuSerGlnLeuAspPheGlnTrpGluLysValAsnLysMetTyrLysAspArgGlnGlyArgPheAspArgSerValGluLysTrpArgArgPheHisTyrAspIleLysIlePheAsnGlnTrpLeuThrGluAlaGluGlnPheLeuArgLysThrGlnIleProGluAsnTrpGluHisAlaLysTyrLysTrpTyrLeuLysArgThrGlyAspArgGlyLeuIleLeuLeuAspAspValIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578894"
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        {
          "allele": "T",
          "end": 4504,
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      "proteinEffect": {
        "hgvs": "NP_000100.3:p.Gln1461Ter"
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      "referenceSequence": "http://reg.genome.network/refseq/RS674704"
    },
    {
      "coordinates": [
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          "allele": "T",
          "end": 4642,
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      "geneSymbol": "DMD",
      "hgvs": [
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS696014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.4405C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.4405C>T"
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        "protein": {
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            "hgvs": "ENSP00000354923.3:p.Gln1469Ter"
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          "RefSeq": {
            "hgvs": "NP_003997.2:p.Gln1469Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
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          "start": 400
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      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_004002.3:p.Gln128Ter"
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      "referenceSequence": "http://reg.genome.network/refseq/RS696015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 544,
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      "gene": "http://reg.genome.network/gene/GN002928",
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      "proteinEffect": {
        "hgvs": "NP_004003.2:p.Gln125Ter"
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      "referenceSequence": "http://reg.genome.network/refseq/RS696016"
    }
  ],
  "type": "nucleotide"
}