{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA372767375",
  "communityStandardTitle": [
    "NM_203447.4(DOCK8):c.4974C>G (p.Tyr1658Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2088050[alleleid]",
        "alleleId": 2088050,
        "preferredName": "NM_203447.4(DOCK8):c.4974C>G (p.Tyr1658Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2025009",
        "RCV": [
          "RCV003764009"
        ],
        "variationId": 2025009
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.434870C>G?assembly=hg19",
        "id": "chr9:g.434870C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.434870C>G?assembly=hg38",
        "id": "chr9:g.434870C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1564065545",
        "rs": 1564065545
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 434870,
          "referenceAllele": "C",
          "start": 434869
        }
      ],
      "hgvs": [
        "NC_000009.12:g.434870C>G",
        "CM000671.2:g.434870C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 434870,
          "referenceAllele": "C",
          "start": 434869
        }
      ],
      "hgvs": [
        "NC_000009.11:g.434870C>G",
        "CM000671.1:g.434870C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 424870,
          "referenceAllele": "C",
          "start": 424869
        }
      ],
      "hgvs": [
        "NC_000009.10:g.424870C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 225006,
          "referenceAllele": "C",
          "start": 225005
        }
      ],
      "hgvs": [
        "NG_017007.1:g.225006C>G",
        "LRG_196:g.225006C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003365"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5071,
          "referenceAllele": "C",
          "start": 5070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "ENST00000382329.2:c.4674C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371766.2:p.Tyr1558Ter",
        "hgvsWellDefined": "ENSP00000371766.2:p.Tyr1558_Phe1936delinsThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgSerThrAlaSerSerAlaThrThrGlyGlnArgProPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824413"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1449,
          "referenceAllele": "C",
          "start": 1448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "ENST00000683406.1:n.1449C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828383"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3762,
          "referenceAllele": "C",
          "start": 3761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "ENST00000685949.1:n.3762C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830322"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5086,
          "referenceAllele": "C",
          "start": 5085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "ENST00000432829.7:c.4974C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394888.3:p.Tyr1658Ter",
        "hgvsWellDefined": "ENSP00000394888.3:p.Tyr1658_Ser2099delinsThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755428",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000432829.7:c.4974C>G"
          },
          "RefSeq": {
            "hgvs": "NM_203447.4:c.4974C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000394888.3:p.Tyr1658Ter"
          },
          "RefSeq": {
            "hgvs": "NP_982272.2:p.Tyr1658Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3762,
          "referenceAllele": "C",
          "start": 3761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "ENST00000382329.1:c.3375C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371766.1:p.Tyr1125Ter",
        "hgvsWellDefined": "ENSP00000371766.1:p.Tyr1125_Ser1566delinsThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273705"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5086,
          "referenceAllele": "C",
          "start": 5085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "ENST00000432829.6:c.4974C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394888.3:p.Tyr1658Ter",
        "hgvsWellDefined": "ENSP00000394888.3:p.Tyr1658_Ser2099delinsThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292259"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4871,
          "referenceAllele": "C",
          "start": 4870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "ENST00000453981.5:c.4770C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408464.2:p.Tyr1590Ter",
        "hgvsWellDefined": "ENSP00000408464.2:p.Tyr1590_Ser2031delinsThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302361"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4753,
          "referenceAllele": "C",
          "start": 4752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "ENST00000469391.5:c.4674C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419438.1:p.Tyr1558Ter",
        "hgvsWellDefined": "ENSP00000419438.1:p.Tyr1558_Ser1999delinsThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS312080"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6929,
          "referenceAllele": "C",
          "start": 6928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "ENST00000495184.5:n.6929C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331939"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826160536",
      "coordinates": [
        {
          "allele": "G",
          "end": 4775,
          "referenceAllele": "C",
          "start": 4774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "NM_001190458.1:c.4674C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177387.1:p.Tyr1558Ter",
        "hgvsWellDefined": "NP_001177387.1:p.Tyr1558_Ser1999delinsThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016185"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826190047",
      "coordinates": [
        {
          "allele": "G",
          "end": 4871,
          "referenceAllele": "C",
          "start": 4870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "NM_001193536.1:c.4770C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180465.1:p.Tyr1590Ter",
        "hgvsWellDefined": "NP_001180465.1:p.Tyr1590_Ser2031delinsThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016442"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580564230",
      "coordinates": [
        {
          "allele": "G",
          "end": 5086,
          "referenceAllele": "C",
          "start": 5085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "NM_203447.3:c.4974C>G",
        "LRG_196t1:c.4974C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_982272.2:p.Tyr1658Ter",
        "hgvsWellDefined": "NP_982272.2:p.Tyr1658_Ser2099delinsThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045213"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4825,
          "referenceAllele": "C",
          "start": 4824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "XM_011518045.1:c.4674C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516347.1:p.Tyr1558Ter",
        "hgvsWellDefined": "XP_011516347.1:p.Tyr1558_Ser1999delinsThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085227"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4984,
          "referenceAllele": "C",
          "start": 4983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "XM_011518046.1:c.4836C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516348.1:p.Tyr1612Ter",
        "hgvsWellDefined": "XP_011516348.1:p.Tyr1612_Ser2053delinsThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085228"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5228,
          "referenceAllele": "C",
          "start": 5227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "XM_011518047.1:c.4770C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516349.1:p.Tyr1590Ter",
        "hgvsWellDefined": "XP_011516349.1:p.Tyr1590_Ser2031delinsThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085229"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4911,
          "referenceAllele": "C",
          "start": 4910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "XM_011518048.1:c.4770C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516350.1:p.Tyr1590Ter",
        "hgvsWellDefined": "XP_011516350.1:p.Tyr1590_Ser2031delinsThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085230"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3646,
          "referenceAllele": "C",
          "start": 3645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "XM_011518049.1:c.3210C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516351.1:p.Tyr1070Ter",
        "hgvsWellDefined": "XP_011516351.1:p.Tyr1070_Ser1511delinsThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085231"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4846,
          "referenceAllele": "C",
          "start": 4845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "XM_011518045.3:c.4674C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516347.1:p.Tyr1558Ter",
        "hgvsWellDefined": "XP_011516347.1:p.Tyr1558_Ser1999delinsThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544747"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4984,
          "referenceAllele": "C",
          "start": 4983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "XM_011518046.2:c.4836C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516348.1:p.Tyr1612Ter",
        "hgvsWellDefined": "XP_011516348.1:p.Tyr1612_Ser2053delinsThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544748"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5035,
          "referenceAllele": "C",
          "start": 5034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "XM_011518047.3:c.4770C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516349.1:p.Tyr1590Ter",
        "hgvsWellDefined": "XP_011516349.1:p.Tyr1590_Ser2031delinsThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544749"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4906,
          "referenceAllele": "C",
          "start": 4905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "XM_011518048.2:c.4770C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516350.1:p.Tyr1590Ter",
        "hgvsWellDefined": "XP_011516350.1:p.Tyr1590_Ser2031delinsThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544750"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3646,
          "referenceAllele": "C",
          "start": 3645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "XM_011518049.2:c.3210C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516351.1:p.Tyr1070Ter",
        "hgvsWellDefined": "XP_011516351.1:p.Tyr1070_Ser1511delinsThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544751"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4941,
          "referenceAllele": "C",
          "start": 4940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "XM_017015173.1:c.4770C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870662.1:p.Tyr1590Ter",
        "hgvsWellDefined": "XP_016870662.1:p.Tyr1590_Ser2031delinsThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567954"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5021,
          "referenceAllele": "C",
          "start": 5020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "XM_017015174.1:c.4836C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870663.1:p.Tyr1612Ter",
        "hgvsWellDefined": "XP_016870663.1:p.Tyr1612_Ser2053delinsThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567955"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826160536",
      "coordinates": [
        {
          "allele": "G",
          "end": 4777,
          "referenceAllele": "C",
          "start": 4776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "NM_001190458.2:c.4674C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177387.1:p.Tyr1558Ter",
        "hgvsWellDefined": "NP_001177387.1:p.Tyr1558_Ser1999delinsThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679115"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826190047",
      "coordinates": [
        {
          "allele": "G",
          "end": 4873,
          "referenceAllele": "C",
          "start": 4872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "NM_001193536.2:c.4770C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180465.1:p.Tyr1590Ter",
        "hgvsWellDefined": "NP_001180465.1:p.Tyr1590_Ser2031delinsThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713758"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580564230",
      "coordinates": [
        {
          "allele": "G",
          "end": 5086,
          "referenceAllele": "C",
          "start": 5085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "NM_203447.4:c.4974C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_982272.2:p.Tyr1658Ter",
        "hgvsWellDefined": "NP_982272.2:p.Tyr1658_Ser2099delinsThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS730068",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000432829.7:c.4974C>G"
          },
          "RefSeq": {
            "hgvs": "NM_203447.4:c.4974C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000394888.3:p.Tyr1658Ter"
          },
          "RefSeq": {
            "hgvs": "NP_982272.2:p.Tyr1658Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}