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  "communityStandardTitle": [
    "NM_203447.4(DOCK8):c.5161C>T (p.Gln1721Ter)"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016442"
    },
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      "@id": "http://reg.genome.network/allele/PA2499305220",
      "coordinates": [
        {
          "allele": "T",
          "end": 5273,
          "referenceAllele": "C",
          "start": 5272
        }
      ],
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      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
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      "referenceSequence": "http://reg.genome.network/refseq/RS045213"
    },
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      "coordinates": [
        {
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          "start": 5011
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085227"
    },
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      "coordinates": [
        {
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085228"
    },
    {
      "coordinates": [
        {
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          "end": 5415,
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          "start": 5414
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      ],
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085229"
    },
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      "coordinates": [
        {
          "allele": "T",
          "end": 5098,
          "referenceAllele": "C",
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS085230"
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        {
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085231"
    },
    {
      "coordinates": [
        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544747"
    },
    {
      "coordinates": [
        {
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544748"
    },
    {
      "coordinates": [
        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544749"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5093,
          "referenceAllele": "C",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
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      "proteinEffect": {
        "hgvs": "XP_011516350.1:p.Gln1653Ter",
        "hgvsWellDefined": "XP_011516350.1:p.Gln1653_Ser2031delinsTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544750"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3833,
          "referenceAllele": "C",
          "start": 3832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "XM_011518049.2:c.3397C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516351.1:p.Gln1133Ter",
        "hgvsWellDefined": "XP_011516351.1:p.Gln1133_Ser1511delinsTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544751"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5128,
          "referenceAllele": "C",
          "start": 5127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "XM_017015173.1:c.4957C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870662.1:p.Gln1653Ter",
        "hgvsWellDefined": "XP_016870662.1:p.Gln1653_Ser2031delinsTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567954"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5208,
          "referenceAllele": "C",
          "start": 5207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "XM_017015174.1:c.5023C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870663.1:p.Gln1675Ter",
        "hgvsWellDefined": "XP_016870663.1:p.Gln1675_Ser2053delinsTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567955"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826160569",
      "coordinates": [
        {
          "allele": "T",
          "end": 4964,
          "referenceAllele": "C",
          "start": 4963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "NM_001190458.2:c.4861C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177387.1:p.Gln1621Ter",
        "hgvsWellDefined": "NP_001177387.1:p.Gln1621_Ser1999delinsTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679115"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826190080",
      "coordinates": [
        {
          "allele": "T",
          "end": 5060,
          "referenceAllele": "C",
          "start": 5059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "NM_001193536.2:c.4957C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180465.1:p.Gln1653Ter",
        "hgvsWellDefined": "NP_001180465.1:p.Gln1653_Ser2031delinsTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713758"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499305220",
      "coordinates": [
        {
          "allele": "T",
          "end": 5273,
          "referenceAllele": "C",
          "start": 5272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "NM_203447.4:c.5161C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_982272.2:p.Gln1721Ter",
        "hgvsWellDefined": "NP_982272.2:p.Gln1721_Ser2099delinsTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS730068",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000432829.7:c.5161C>T"
          },
          "RefSeq": {
            "hgvs": "NM_203447.4:c.5161C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000394888.3:p.Gln1721Ter"
          },
          "RefSeq": {
            "hgvs": "NP_982272.2:p.Gln1721Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}