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        "hgvsWellDefined": "XP_011516350.1:p.Gln1971_Ser2031delinsArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544750"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "C",
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      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "XP_011516351.1:p.Gln1451Ter",
        "hgvsWellDefined": "XP_011516351.1:p.Gln1451_Ser1511delinsArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544751"
    },
    {
      "coordinates": [
        {
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        "hgvsWellDefined": "XP_016870662.1:p.Gln1971_Ser2031delinsArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567954"
    },
    {
      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN019191",
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      "hgvs": [
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        "hgvsWellDefined": "XP_016870663.1:p.Gln1993_Ser2053delinsArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567955"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826160749",
      "coordinates": [
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          "allele": "T",
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      "gene": "http://reg.genome.network/gene/GN019191",
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      "geneSymbol": "DOCK8",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001177387.1:p.Gln1939_Ser1999delinsArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679115"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826190259",
      "coordinates": [
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          "allele": "T",
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          "referenceAllele": "C",
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      "gene": "http://reg.genome.network/gene/GN019191",
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      "geneSymbol": "DOCK8",
      "hgvs": [
        "NM_001193536.2:c.5911C>T"
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      "proteinEffect": {
        "hgvs": "NP_001180465.1:p.Gln1971Ter",
        "hgvsWellDefined": "NP_001180465.1:p.Gln1971_Ser2031delinsArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713758"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573317354",
      "coordinates": [
        {
          "allele": "T",
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      "gene": "http://reg.genome.network/gene/GN019191",
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      "geneSymbol": "DOCK8",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_982272.2:p.Gln2039Ter",
        "hgvsWellDefined": "NP_982272.2:p.Gln2039_Ser2099delinsArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS730068",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000432829.7:c.6115C>T"
          },
          "RefSeq": {
            "hgvs": "NM_203447.4:c.6115C>T"
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        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000394888.3:p.Gln2039Ter"
          },
          "RefSeq": {
            "hgvs": "NP_982272.2:p.Gln2039Ter"
          }
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      }
    }
  ],
  "type": "nucleotide"
}