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  "communityStandardTitle": [
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        "NM_203447.3:c.5287C>T",
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_982272.2:p.Arg1763_Ser2099delinsGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045213"
    },
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      "coordinates": [
        {
          "allele": "T",
          "end": 5138,
          "referenceAllele": "C",
          "start": 5137
        }
      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085227"
    },
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        {
          "allele": "T",
          "end": 5297,
          "referenceAllele": "C",
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085228"
    },
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      "coordinates": [
        {
          "allele": "T",
          "end": 5541,
          "referenceAllele": "C",
          "start": 5540
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      ],
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085229"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5224,
          "referenceAllele": "C",
          "start": 5223
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      ],
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085230"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3959,
          "referenceAllele": "C",
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085231"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5159,
          "referenceAllele": "C",
          "start": 5158
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      ],
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544747"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5297,
          "referenceAllele": "C",
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544748"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5348,
          "referenceAllele": "C",
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      ],
      "gene": "http://reg.genome.network/gene/GN019191",
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544749"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5219,
          "referenceAllele": "C",
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      ],
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544750"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      ],
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544751"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5254,
          "referenceAllele": "C",
          "start": 5253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "XM_017015173.1:c.5083C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870662.1:p.Arg1695Ter",
        "hgvsWellDefined": "XP_016870662.1:p.Arg1695_Ser2031delinsGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567954"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5334,
          "referenceAllele": "C",
          "start": 5333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "XM_017015174.1:c.5149C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870663.1:p.Arg1717Ter",
        "hgvsWellDefined": "XP_016870663.1:p.Arg1717_Ser2053delinsGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567955"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826160603",
      "coordinates": [
        {
          "allele": "T",
          "end": 5090,
          "referenceAllele": "C",
          "start": 5089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "NM_001190458.2:c.4987C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177387.1:p.Arg1663Ter",
        "hgvsWellDefined": "NP_001177387.1:p.Arg1663_Ser1999delinsGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679115"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826190114",
      "coordinates": [
        {
          "allele": "T",
          "end": 5186,
          "referenceAllele": "C",
          "start": 5185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "NM_001193536.2:c.5083C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180465.1:p.Arg1695Ter",
        "hgvsWellDefined": "NP_001180465.1:p.Arg1695_Ser2031delinsGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713758"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580564253",
      "coordinates": [
        {
          "allele": "T",
          "end": 5399,
          "referenceAllele": "C",
          "start": 5398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "NM_203447.4:c.5287C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_982272.2:p.Arg1763Ter",
        "hgvsWellDefined": "NP_982272.2:p.Arg1763_Ser2099delinsGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS730068",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000432829.7:c.5287C>T"
          },
          "RefSeq": {
            "hgvs": "NM_203447.4:c.5287C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000394888.3:p.Arg1763Ter"
          },
          "RefSeq": {
            "hgvs": "NP_982272.2:p.Arg1763Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}